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
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TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACT
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TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGTGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACT
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Task1_train_23003
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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.
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Pathogenic; Blood group, ER
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TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACT
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TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGTGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACT
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Task1_train_23004
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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?
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Pathogenic; Non-immune hydrops fetalis
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TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACT
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TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGTGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACT
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Task1_train_23005
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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?
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Pathogenic; Lymphatic malformation 6
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ATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACTGCTGGGTGTGGCGGCTCACACTTGTCATCCCAGCACTTTGAGGTCAGGAGTTTGAGACGAACCTGGCCAAAAATACAAAAGACTAGCCAGGCCTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCT
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ATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCAGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACTGCTGGGTGTGGCGGCTCACACTTGTCATCCCAGCACTTTGAGGTCAGGAGTTTGAGACGAACCTGGCCAAAAATACAAAAGACTAGCCAGGCCTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCT
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Task1_train_23006
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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?
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Pathogenic; not provided
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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
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GCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGAAGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACTGCTGGGTGTGGCGGCTCACACTTGTCATCCCAGCACTTTGAGGTCAGGAGTTTGAGACGAACCTGGCCAAAAATACAAAAGACTAGCCAGGCCTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTACAGTGAGTGAAGGTCATGCCACTGCACTTCAGCCTGAGATCCTATCTCAAAAGCCCAACTAAACTATGGAGAAAGGATTTGAATAGACATTTCCCCAGAGAAGATACACAAATGGCCAAGCACATGAAAAGACGCTCAGCGTCGGTCAACAGGGAACTGAGAAGAGCCCACAGCAAGCCACCCGTTCAGCAGCATGGCCAGAACAAAAAAGACATAGTAACAGGTTGTTGAGGATGTGGAGAAACCGCAACCTCGTGTTGGTGGTGGGAACCTTAGATGGTGGAGCTGCTATGGAAAACCAGCAGCTCCTCATGATGGAAACCACCACCAGCACTTCCGGCCCTGGCGTGCAGCCACAGGACCAGGGGCACGGGCACACAGACGTGTACACCGGCGTGCCTGGCAGCATCACGGGCAACAGCCCATCAACAGATGAGCATGTTGTGGTCCATCCATGCCACAGAATATCATTTGCCCATAAACAGGAAGGCCATACTGCCACGTGGGTGGACCTCAGAGACACCATGCTGAGCAAGGAAAGCTGATTACAAAAGGACAAACGCTGTCTGAGCCTGTTTTCATGAAATATCCACTGTAGGCAAATCTCATAGAACCAGGACCTAGACAAGGGGTTACTAGGGGCCAGGGGAGGGGAAACCGAGTGACAGCCAATGGGCACTGGGTTTCTTCTTTTTACTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCAGGCTTAATGCAGCCCTGTACTCCTGGCCTCAAGCCATCCTCCCACCTCAGCCTCCAGAGTAGCTGGGAGCACAAGTGTGCACCATCACACCCAGCTAACGTTTATTTTTTTGTAGAGAGAGTCTCACTCACTATGTTGCCCAGGCTGGTCTTAAAACTCCTGGCCTCAACTGATCCTCCTCCTTTGGCCTCCCAAAGTGCTGGGACCATAGGCATGAGCTGCCATTGCCAGCTAATTGTTTTATTTTTACATTTGCTGAGGCAGGGTCTCGCTTGTGGCCGTGCAGATCTTGAACTCCTGGCCTTGAGCAGTACCTCCCTCCTGGGTCTCTTACAGTGCTGGGATGATAGGGGTGAGCCGCTGTGCCCGGCCCGGGGTTTCTTTTTGAAGTGGTGAGAAGGCAGATGCTCAACTGTGAATCCACTAGAAACCCCTGAGTTGTA
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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?
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Pathogenic; Lymphatic malformation 6
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GCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACTGCTGGGTGTGGCGGCTCACACTTGTCATCCCAGCACTTTGAGGTCAGGAGTTTGAGACGAACCTGGCCAAAAATACAAAAGACTAGCCAGGCCTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTACAGTGAGTGAAGGTCATGCCACTGCACTTCAGCCTGAGATCCTATCTCAAAAGCCCAACTAAACTATGGAGAAAGGATTTGAATAGACATTTCCCCAGAGAAGATACACAAATGGCCAAGCACATGAAAAGACGCTCAGCGTCGGTCAACAGGGAACTGAGAAGAGCCCACAGCAAGCCACCCGTTCAGCAGCATGGCCAGAACAAAAAAGACATAGTAACAGGTTGTTGAGGATGTGGAGAAACCGCAACCTCGTGTTGGTGGTGGGAACCTTAGATGGTGGAGCTGCTATGGAAAACCAGCAGCTCCTCATGATGGAAACCACCACCAGCACTTCCGGCCCTGGCGTGCAGCCACAGGACCAGGGGCACGGGCACACAGACGTGTACACCGGCGTGCCTGGCAGCATCACGGGCAACAGCCCATCAACAGATGAGCATGTTGTGGTCCATCCATGCCACAGAATATCATTTGCCCATAAACAGGAAGGCCATACTGCCACGTGGGTGGACCTCAGAGACACCATGCTGAGCAAGGAAAGCTGATTACAAAAGGACAAACGCTGTCTGAGCCTGTTTTCATGAAATATCCACTGTAGGCAAATCTCATAGAACCAGGACCTAGACAAGGGGTTACTAGGGGCCAGGGGAGGGGAAACCGAGTGACAGCCAATGGGCACTGGGTTTCTTCTTTTTACTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCAGGCTTAATGCAGCCCTGTACTCCTGGCCTCAAGCCATCCTCCCACCTCAGCCTCCAGAGTAGCTGGGAGCACAAGTGTGCACCATCACACCCAGCTAACGTTTATTTTTTTGTAGAGAGAGTCTCACTCACTATGTTGCCCAGGCTGGTCTTAAAACTCCTGGCCTCAACTGATCCTCCTCCTTTGGCCTCCCAAAGTGCTGGGACCATAGGCATGAGCTGCCATTGCCAGCTAATTGTTTTATTTTTACATTTGCTGAGGCAGGGTCTCGCTTGTGGCCGTGCAGATCTTGAACTCCTGGCCTTGAGCAGTACCTCCCTCCTGGGTCTCTTACAGTGCTGGGATGATAGGGGTGAGCCGCTGTGCCCGGCCCGGGGTTTCTTTTTGAAGTGGTGAGAAGGCAGATGCTCAACTGTGAATCCACTAGAAACCCCTGAGTTGTA
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GCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGAAGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACTGCTGGGTGTGGCGGCTCACACTTGTCATCCCAGCACTTTGAGGTCAGGAGTTTGAGACGAACCTGGCCAAAAATACAAAAGACTAGCCAGGCCTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTACAGTGAGTGAAGGTCATGCCACTGCACTTCAGCCTGAGATCCTATCTCAAAAGCCCAACTAAACTATGGAGAAAGGATTTGAATAGACATTTCCCCAGAGAAGATACACAAATGGCCAAGCACATGAAAAGACGCTCAGCGTCGGTCAACAGGGAACTGAGAAGAGCCCACAGCAAGCCACCCGTTCAGCAGCATGGCCAGAACAAAAAAGACATAGTAACAGGTTGTTGAGGATGTGGAGAAACCGCAACCTCGTGTTGGTGGTGGGAACCTTAGATGGTGGAGCTGCTATGGAAAACCAGCAGCTCCTCATGATGGAAACCACCACCAGCACTTCCGGCCCTGGCGTGCAGCCACAGGACCAGGGGCACGGGCACACAGACGTGTACACCGGCGTGCCTGGCAGCATCACGGGCAACAGCCCATCAACAGATGAGCATGTTGTGGTCCATCCATGCCACAGAATATCATTTGCCCATAAACAGGAAGGCCATACTGCCACGTGGGTGGACCTCAGAGACACCATGCTGAGCAAGGAAAGCTGATTACAAAAGGACAAACGCTGTCTGAGCCTGTTTTCATGAAATATCCACTGTAGGCAAATCTCATAGAACCAGGACCTAGACAAGGGGTTACTAGGGGCCAGGGGAGGGGAAACCGAGTGACAGCCAATGGGCACTGGGTTTCTTCTTTTTACTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCAGGCTTAATGCAGCCCTGTACTCCTGGCCTCAAGCCATCCTCCCACCTCAGCCTCCAGAGTAGCTGGGAGCACAAGTGTGCACCATCACACCCAGCTAACGTTTATTTTTTTGTAGAGAGAGTCTCACTCACTATGTTGCCCAGGCTGGTCTTAAAACTCCTGGCCTCAACTGATCCTCCTCCTTTGGCCTCCCAAAGTGCTGGGACCATAGGCATGAGCTGCCATTGCCAGCTAATTGTTTTATTTTTACATTTGCTGAGGCAGGGTCTCGCTTGTGGCCGTGCAGATCTTGAACTCCTGGCCTTGAGCAGTACCTCCCTCCTGGGTCTCTTACAGTGCTGGGATGATAGGGGTGAGCCGCTGTGCCCGGCCCGGGGTTTCTTTTTGAAGTGGTGAGAAGGCAGATGCTCAACTGTGAATCCACTAGAAACCCCTGAGTTGTA
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Task1_train_23009
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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.
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Pathogenic; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
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CTGAGCCCCTCCCGGATGGGGACCCTGAGGGGCTGTGGGGGAAGACTCCCACCCATTCAGGAGTTGGGTGGGCTGGTCTAACACCAAGAGCCAGGGGCCCAAAGATGGACCCAGGACAGCCAGGCGGCCAGCACAAAGGTGTTGGGCCGGTCTCACAGGTCAGGCCACGGGCAGCCACCAGAACCTGGGTGGTCAGAGCCAAGACCGTGGGGCAGCAGGCTACACATGACCCATGTCCCTGTAGCCTGGTTTCCCATGGGACTTGGGAGGCCTGGATGGGGCGGGGTGGGCTAACTGGAGGTGGAGGAGCTCGGCTCCCAGGCCCTGGGGGCATCTGACACCCTCTATGCTGCCCTGGTCCAGGACCACAAGCTCTGTGGTTGGAGTGGGGCCGACGGGGCTCTCCCACCTCACCTGGAAGGCACTCTGTGCCGACGGCCTCGGGTCTTCAGGAACAGCCTCCTCCTCTTCCTCACTGTCGGACTCAAACAGGAAGTAGTCCCCGGAGTGGATGACTGTGGGCAGGCAGCACTGAGAGCCAGCCTTCCATGCAGGGAGACTCCCAGCCAGACCCCCTCCGCCTGCATGGGCCAAGGCCCGAGAGCCACCCTTCCCATGCGGAGTAGCCGGGAGCAGTGCAGGCACAAGACACAGGCCAGCGCGGTGGGACAAGACAGAGGTGGGCAGGGCAGCTGAGGAGCAGAGCCAGCGCGGGCTGGGGTGCAGAGTGGGCCGACTGCAGAGGACCGGGGAAAACCCAGGAGGCTGTGTGAGAGTTAGAAAAACAGAACAGGCCGGGCACGGTGGCTGACGCCTGTAATCCCAGCACTGTGGGAGGCTGAGGCGGGCGGATCACCTGAAGTCAGAGGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCCTTTGAACCTGGGAGGTGGGGGTTGTAGTGAGCCGCAATCACGCCATTGCACTGTAGCCTGGGCGACAGGGCAAGACACCGTCTCCAAAAAAAAAAAAAAAAGGCCTGGAGTGGGGCACATGCTTGTAGTCTCAGTTACTTGGGAGGCTGAGGCAGGAGGATCACTTGAACCCGGGAGGTAGAGATTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGCAGTGACAGAGCGAGACTCCATCTCAAAAAGAAACAAAAACAGAATAACGCAGTGCTGCTGGGTCCCAGGTGAGATCGCTGCTCGACCACCATGTGTCATCGGGGCAAGCTCCGAGACTCCCACTGTTGGAAGGGCTGGGGCATAGCCAGGAGAGGACATAGTCAGCCCAGGGGTCTGCAGCCAGTGAGGCACCCCCCGACCCAGGAGGCCTGAGCACGTCCTGACGCTCAGGGCCTGGGAGTCGGGGGAAGGGAGGGGAAGATAGCAGGCCAGGCAGAGGACAGATGGGGGCACAGAGGGCCTGAGAGGGTGGCCACAGGCGGCCTAATTGGGGGTACCTGTGGCGTGGTCCAGCCAGGGCCGCCACCACTGCCTCCGTGGCGGGGAGGAGCCCCCTGGACTGTCGGGCCCTGTGGAGGGGCAGGGTGAGCATGAGGCAGCAGTCAAGCCACCAGGAGGGGTCGGGGCTGTGAGTGCTCCCGTCTTGGAGACAGGATAGGTGGAGACAGACACGGACACCCACAGTGACGGGGGCCGTGTGGGGCCATGGGGCTCAGAGCCCATGTGCGTGGACGGACAGTCACAGGGCGGCCATGGGGCCTGCCAGACAGAGGGTGATCATGCGGACAGGACAGGCGGGCTGGGAGCCCTGTGGGACGTCACATGGGCACAGACGCAGCACACGCCAGCAGGCACAGACATGCTGGACACGGGGCCCTGGGTGCCCGACTCCAGCTGCACTCACCTGGCTCCAGGCCGGGGTCCTTGGGGCCCAGGGTGTCCTGGGGGCGACTGCGGTCCACCCGGCCCTGCCTGTGCTTCTCCTGCTTGGCACGGATACGCTCCATCCTGTGGTGGGGAAAGGTGGGGTATGCTGAGCATTGGGGGGAGGAGCCGGGGAGTCCCCGCCCCAGAGGCACCTACTGTCTTTTCAGCTGGGCCAGGGACTTCTCCTCTATCCTGCGGTGAAAGTCAATGCTCTTGAGGTTGGCAGCGTTGTAGAGGGCGAAGCCCCTGTAGGGAGGCGGGGATGGGGTGTGAGCACCAGGCACTCGACCCCAGCAACATGGGCAGCCGCCGCTCCCCGCTCAGCCCGGGACAGCTCAGCCTGCTCCTCTCTGCCCACGCTGGACAAGAGGCACCCACGGGGGAGGCATCTGCTGCCCCCACCCTCCGTGCTGTCTGCGGCGAGGACAGGCCCTTCTGCCGTACAGATGCAGGGGCGTCTGGTGGCACCCACCCCACCACAGCTGCAGGGAAGAAGGCAAAGCTGGCCCCAAGCCAGAACCCCTCCCTGGGGCAGTCGTGACACCACACAGTGGCCCTCCCGCTGGTGGAGAAACTTAGCCCTTAGTGGGAAAGTTGGCTGGGGGTGAGACACCAGCCACCGTCAGCACTGCAGCCTGTGGTCTCTGACAGACCCAGCACTGGGGCAGAGTGTGATGGTGCCGGGGATCTGCCGGCCTTCATTCTCCCTCTAGATGACACGCCCATGTCACAGAGTGGCAGAGCCTGCCCTCCACGGGCCGGGGCCTGAGACAGTGAGGAACCTCCCATTGCCCCCTCCCAGCCCCAAGACGGGAGCTCTGGGCTGTGTCTGGGCCCAAGCTTGCCTGGAGGCTAGCAGGGCGGTGGCCTGGAGGTCGGCCCTGACGTGCAGGTAGTAATGGCTAAGGAAGACGCGGCGCTGCAGCAGCAGGAAGAAGAAGCAGACGCTGTCCCAGATGATGCCAGCCTCCTCCACAGGCAGCAGGCAGTCCTGGTCTCTGTCCATCATCTCCTTGGCTGCAAGGCAGGCACCGGCAAGGGTCAGGCCCAGGGCCCAGGAGCAGGGGGCTTCCCCACGCCCTCCCCCGCCACCGTCCTGGCCACTCACGGTCATAGTAGCCCTTGACGGTGCATACAAGGCTGAAGAGCTGGATGACCCAGCAGAAGCCGGTCTGCATCTGCTCCACGAAGACGCAGGCCAGGAGCTGGGGGAGAGCAGGGTCAGCGGGGCCAGCGGGGCCCCAGGGCGGTGGGTGCGGGGGGGCCGGAGGCTCACCGACAGCATGTTCTTGGAGATGATGACGGTGACGTTGTACAGAATGAGGCAGTCCCACAGCACGAGGCGGGCCCGTGTGTCCCTCTGCAGCAGGGCCGTGCCGAAGAGCAGCAGGTAGAAGCAGGCCAGCAGGTAGCCCAGCCCGAAGATGCTGATGCGGGTGGCCCCCGTGACAAACACCACCACCAGCACCAGCCAGAACAGGTATCGGAAGACGGCCACCTTCAGCATGTCAAGGTAGGACCTGCCAGGCCGGAGCGTCAGGGCGGGCGCCCCGGCCACCCCTCCCAGAAGGTTCCCCGTGGAGGGTGACGTGGAACCCACCTGCAGTGGATAAAGTTGGGCACGGGGTTGGGCTCCCCCCGCAGCGGCTCCAGGCGGTCGGTGTTGACGCCAGCCATGCGCTGCCACTCCTCTGTGCGCTCAGCTGAGAACACCTGCCACTGCTGGGAGGCGCACAGCAGCAGGAGAAAGTCGCCTGCAGGACACAGGAGCCGCCGCTGTGCCACACGGGGACCCACACGAGGTGGGCACGGCGCATAAATCCCACCTCCCACCCCAGGCCTGTCGGCGTGCAGCCGCTGGGAGCGGACACACGTCTGCCTGGGTGAGTGGCCGGGTGTCCCTGGGGGAGCCCCGGTGTGAGGGCATCTGCACAAGGGCTGCCGTGCACACAGGCTGAGGTCTGCGTGCGTGCGTGCGAGGTCAGGGCCTGCAGGCCGCCATGTGCCTGACCACACCTCCGCCCGTGCACGCCTGTGTGCACACTTGTGAGCAGATTTGGGGGCGTGAATGTACTCTGAGGGTCCTCTGCAGAGGCGGGGGTGGTGGGGGGCAC
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CTGAGCCCCTCCCGGATGGGGACCCTGAGGGGCTGTGGGGGAAGACTCCCACCCATTCAGGAGTTGGGTGGGCTGGTCTAACACCAAGAGCCAGGGGCCCAAAGATGGACCCAGGACAGCCAGGCGGCCAGCACAAAGGTGTTGGGCCGGTCTCACAGGTCAGGCCACGGGCAGCCACCAGAACCTGGGTGGTCAGAGCCAAGACCGTGGGGCAGCAGGCTACACATGACCCATGTCCCTGTAGCCTGGTTTCCCATGGGACTTGGGAGGCCTGGATGGGGCGGGGTGGGCTAACTGGAGGTGGAGGAGCTCGGCTCCCAGGCCCTGGGGGCATCTGACACCCTCTATGCTGCCCTGGTCCAGGACCACAAGCTCTGTGGTTGGAGTGGGGCCGACGGGGCTCTCCCACCTCACCTGGAAGGCACTCTGTGCCGACGGCCTCGGGTCTTCAGGAACAGCCTCCTCCTCTTCCTCACTGTCGGACTCAAACAGGAAGTAGTCCCCGGAGTGGATGACTGTGGGCAGGCAGCACTGAGAGCCAGCCTTCCATGCAGGGAGACTCCCAGCCAGACCCCCTCCGCCTGCATGGGCCAAGGCCCGAGAGCCACCCTTCCCATGCGGAGTAGCCGGGAGCAGTGCAGGCACAAGACACAGGCCAGCGCGGTGGGACAAGACAGAGGTGGGCAGGGCAGCTGAGGAGCAGAGCCAGCGCGGGCTGGGGTGCAGAGTGGGCCGACTGCAGAGGACCGGGGAAAACCCAGGAGGCTGTGTGAGAGTTAGAAAAACAGAACAGGCCGGGCACGGTGGCTGACGCCTGTAATCCCAGCACTGTGGGAGGCTGAGGCGGGCGGATCACCTGAAGTCAGAGGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCCTTTGAACCTGGGAGGTGGGGGTTGTAGTGAGCCGCAATCACGCCATTGCACTGTAGCCTGGGCGACAGGGCAAGACACCGTCTCCAAAAAAAAAAAAAAAAGGCCTGGAGTGGGGCACATGCTTGTAGTCTCAGTTACTTGGGAGGCTGAGGCAGGAGGATCACTTGAACCCGGGAGGTAGAGATTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGCAGTGACAGAGCGAGACTCCATCTCAAAAAGAAACAAAAACAGAATAACGCAGTGCTGCTGGGTCCCAGGTGAGATCGCTGCTCGACCACCATGTGTCATCGGGGCAAGCTCCGAGACTCCCACTGTTGGAAGGGCTGGGGCATAGCCAGGAGAGGACATAGTCAGCCCAGGGGTCTGCAGCCAGTGAGGCACCCCCCGACCCAGGAGGCCTGAGCACGTCCTGACGCTCAGGGCCTGGGAGTCGGGGGAAGGGAGGGGAAGATAGCAGGCCAGGCAGAGGACAGATGGGGGCACAGAGGGCCTGAGAGGGTGGCCACAGGCGGCCTAATTGGGGGTACCTGTGGCGTGGTCCAGCCAGGGCCGCCACCACTGCCTCCGTGGCGGGGAGGAGCCCCCTGGACTGTCGGGCCCTGTGGAGGGGCAGGGTGAGCATGAGGCAGCAGTCAAGCCACCAGGAGGGGTCGGGGCTGTGAGTGCTCCCGTCTTGGAGACAGGATAGGTGGAGACAGACACGGACACCCACAGTGACGGGGGCCGTGTGGGGCCATGGGGCTCAGAGCCCATGTGCGTGGACGGACAGTCACAGGGCGGCCATGGGGCCTGCCAGACAGAGGGTGATCATGCGGACAGGACAGGCGGGCTGGGAGCCCTGTGGGACGTCACATGGGCACAGACGCAGCACACGCCAGCAGGCACAGACATGCTGGACACGGGGCCCTGGGTGCCCGACTCCAGCTGCACTCACCTGGCTCCAGGCCGGGGTCCTTGGGGCCCAGGGTGTCCTGGGGGCGACTGCGGTCCACCCGGCCCTGCCTGTGCTTCTCCTGCTTGGCAGGGATACGCTCCATCCTGTGGTGGGGAAAGGTGGGGTATGCTGAGCATTGGGGGGAGGAGCCGGGGAGTCCCCGCCCCAGAGGCACCTACTGTCTTTTCAGCTGGGCCAGGGACTTCTCCTCTATCCTGCGGTGAAAGTCAATGCTCTTGAGGTTGGCAGCGTTGTAGAGGGCGAAGCCCCTGTAGGGAGGCGGGGATGGGGTGTGAGCACCAGGCACTCGACCCCAGCAACATGGGCAGCCGCCGCTCCCCGCTCAGCCCGGGACAGCTCAGCCTGCTCCTCTCTGCCCACGCTGGACAAGAGGCACCCACGGGGGAGGCATCTGCTGCCCCCACCCTCCGTGCTGTCTGCGGCGAGGACAGGCCCTTCTGCCGTACAGATGCAGGGGCGTCTGGTGGCACCCACCCCACCACAGCTGCAGGGAAGAAGGCAAAGCTGGCCCCAAGCCAGAACCCCTCCCTGGGGCAGTCGTGACACCACACAGTGGCCCTCCCGCTGGTGGAGAAACTTAGCCCTTAGTGGGAAAGTTGGCTGGGGGTGAGACACCAGCCACCGTCAGCACTGCAGCCTGTGGTCTCTGACAGACCCAGCACTGGGGCAGAGTGTGATGGTGCCGGGGATCTGCCGGCCTTCATTCTCCCTCTAGATGACACGCCCATGTCACAGAGTGGCAGAGCCTGCCCTCCACGGGCCGGGGCCTGAGACAGTGAGGAACCTCCCATTGCCCCCTCCCAGCCCCAAGACGGGAGCTCTGGGCTGTGTCTGGGCCCAAGCTTGCCTGGAGGCTAGCAGGGCGGTGGCCTGGAGGTCGGCCCTGACGTGCAGGTAGTAATGGCTAAGGAAGACGCGGCGCTGCAGCAGCAGGAAGAAGAAGCAGACGCTGTCCCAGATGATGCCAGCCTCCTCCACAGGCAGCAGGCAGTCCTGGTCTCTGTCCATCATCTCCTTGGCTGCAAGGCAGGCACCGGCAAGGGTCAGGCCCAGGGCCCAGGAGCAGGGGGCTTCCCCACGCCCTCCCCCGCCACCGTCCTGGCCACTCACGGTCATAGTAGCCCTTGACGGTGCATACAAGGCTGAAGAGCTGGATGACCCAGCAGAAGCCGGTCTGCATCTGCTCCACGAAGACGCAGGCCAGGAGCTGGGGGAGAGCAGGGTCAGCGGGGCCAGCGGGGCCCCAGGGCGGTGGGTGCGGGGGGGCCGGAGGCTCACCGACAGCATGTTCTTGGAGATGATGACGGTGACGTTGTACAGAATGAGGCAGTCCCACAGCACGAGGCGGGCCCGTGTGTCCCTCTGCAGCAGGGCCGTGCCGAAGAGCAGCAGGTAGAAGCAGGCCAGCAGGTAGCCCAGCCCGAAGATGCTGATGCGGGTGGCCCCCGTGACAAACACCACCACCAGCACCAGCCAGAACAGGTATCGGAAGACGGCCACCTTCAGCATGTCAAGGTAGGACCTGCCAGGCCGGAGCGTCAGGGCGGGCGCCCCGGCCACCCCTCCCAGAAGGTTCCCCGTGGAGGGTGACGTGGAACCCACCTGCAGTGGATAAAGTTGGGCACGGGGTTGGGCTCCCCCCGCAGCGGCTCCAGGCGGTCGGTGTTGACGCCAGCCATGCGCTGCCACTCCTCTGTGCGCTCAGCTGAGAACACCTGCCACTGCTGGGAGGCGCACAGCAGCAGGAGAAAGTCGCCTGCAGGACACAGGAGCCGCCGCTGTGCCACACGGGGACCCACACGAGGTGGGCACGGCGCATAAATCCCACCTCCCACCCCAGGCCTGTCGGCGTGCAGCCGCTGGGAGCGGACACACGTCTGCCTGGGTGAGTGGCCGGGTGTCCCTGGGGGAGCCCCGGTGTGAGGGCATCTGCACAAGGGCTGCCGTGCACACAGGCTGAGGTCTGCGTGCGTGCGTGCGAGGTCAGGGCCTGCAGGCCGCCATGTGCCTGACCACACCTCCGCCCGTGCACGCCTGTGTGCACACTTGTGAGCAGATTTGGGGGCGTGAATGTACTCTGAGGGTCCTCTGCAGAGGCGGGGGTGGTGGGGGGCAC
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Task1_train_23010
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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.
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Pathogenic; Meier-Gorlin syndrome 4
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GGATCCTGAGTAGCAGAGATTACAGGTGCCTGCCATCACGTCCGGCTAATTTTTGTATTTATTGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCAGGCCACCTTTGAGGTATTTTGCAAGCACCAGTTGCATCATCAAACCGGTTTCTATTCCTTTAACTTAAAAAAAAATAGGCACAATTCACGCTTTTTACAGAAAACTTGGAAAATGGGAAAACAGAAGCCCTCCTCTGAGCCCTGGCCGCCTCCACCCGCGTCCCCTTCCCTCGCAGGCCTCCAGGCCCCGGCGGCCCGCATTGCTTTGCGGGGGACTTCCGCAGCGCTGCGCCTGGCCCTGCTTATTGGCGTCTCTGGAAGGAGTGGCTGTGGCTCGGGCTCTCCAGATAAACCGCGCTCTAGGCCGTTTCCCAGATAGGAGCGCTATAGGTTTTAAGAACTAAAACTTTAAAATCTCAGCCCTCAGCCATGCTAAAGGCAGTTTCTTTTCTTTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCTCGCTCTTTCGCTCAGGCTGAAGTGCAGTGGCGCCATTTCGCCTCCCGGGTTCAAGCGATTCTGCTGCCTCAGCCCCCCAAGCAGTTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTTTCAAAGTGCTGGGATTACAGGCGTGAACCATCGCGCCCGGCCCCTTTTCTTCGTTTCCATGTAATAGCTTGATTGAGAAATAATTCACATATCAAATCCACCCTTTTAAAAAGCGAGCAACGCGGATCGCGGAGGCCACGCCTGTGATCGCAGCGCTTTGGGAGGGGGCAGTTCCAAGAGAGCGGATCACTGAACCGGGGAGTTCGAGACCACCCGGCAACGTAATCTCCGCCTCGATAGAAATAGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGGCTCCGCCCCACGGGGTTCACGCCATTCTCAGGCCTCAGCCTTTTGAGTAGCTGGGACCACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAGAAATAGTTTTAAAAAAAGAAATAAGGAGCGTGCGGCCCGCGGGGGAAGCGCCTTTACCAGCTCGAGCCTGCAGCCCCCCAGGCCGCGCCGTCCTCGGCTCCCCCGGGCAGCGCCGGGGTTTTGTCAGGCGCGCGCTGCTGTTTGCCTGGATTGCGCTCATTCTGACCCTGAAGCCAGCGGCCCCACTGACACGCCCTGAAAAGTGGGAGCCACACGCGGGATCCGGAGACCGCGCTAAAGTCCCACGCACGACGGCGCCCGCCGGCGAGTCCACGCCCGCACGTCGGCGCATGCGCGCGGCCAAGCCGGTGCCCGCGCCCACCAGCGCGCATGCGCGCCCCGTCCCTTCCCTCCCCCCGTGCTCTGCCCCGATGGTTCGGTCCGCGCCGGGGGCGGGGCCAGGGCGCCCGCGGGAAATTTGGCGGGAACCGCGCCCGCCTCTTCCTCCCTTCCTTCTTTCCTTGCTTTCGCCGCGCACTCCGCCGCCATGGAGCAGCGCCGCGTCACCGACTTCTTCGCGCGCCGCCGCCCCGGGCCCCCCCGCATCGCGCCGCCCAAGCTGGCCTGCCGCACCCCCAGCCCCGCCAGGCCCGCACTCCGCGCCCCGGCCTCCGCTACCAGTGGCAGCCGCAAGCGCGCCCGCCCGCCCGCCGCCCCCGGACGCGACCAGGCCAGGCCACCGGCCCGCAGGAGACTGCGGCTGTCGGTGGACGAGGTGAGGGGCGTGGGGAGACTGAGGCCGGGGAGTTGGGGGCGGGGAGACTGAGGCCCGGGGGGCAGGGCTCGGGGAAACTGAGGCGGAGGGACGGGGGCGGGGAAACAGGCGGGGGGGACGGGGCGCAGGGAACTCTGGGACAGGCCGGGGGATCCTGGGGGCGCCCTGCCACCACTGGGGACTTGGCTGGCTCCTGAGATGAGCAGGAGGCACTGGGGGGCTTGCACCGGGATCCGATGATGGGGCTGGAAGTCCAGCTTCTCTGCGAGGCCAGGGCAGGGGTCCGACCTGGAAACGGCCCCGGAAGACGAGAGCAAGGCTGTGTCCCCGGCCTTAGCACAGACCACCATCTACGGGAAGTCCTAAGCCCCCCAGCCATGCCCGTCCCAGTTAACTCAGAGCGGCTTCTGATCCTTCGGGGTCCTCTGCAGAGCCAGGAGCACCAGGTCTTGTCATGAGTTCACCCTTGGGGTCCCTCCCACCAGGTTTCCAGCCCCAGTACCCCCGAGGCCCCAGACATCCCAGCCTGCCCTTCTCCGGGCCAGAAGATAAAGAAATCCACCCCGGCAGCAGGTCAGCCGCCCCACCTGACATCCGCGCAGGACCAGGTGAGGGGCGGGGCCTGGGGCAGATGCGGGAGGGCTGAGTGGTGCCGGCCTGCCTGCCTGCCTGACGGCACCGTGTCCCCTGATCCCCCTGAAGGACACCATCTCTGAGCTTGCGTCATGCCTGCAACGGGCCCGGGAGCTGGGGGCAAGAGTCCGGGCGCTGAAGGCCAGTGCCCAGGATGCTGGGGAGTCCTGCACCCCAGAGGCCGAGGGCCGCCCTGAGGAGCCATGGTGAGTGCTGGGTGGGCGGCCACGAGGCCCCGGCAAAGGCCGGGTTGGTGGCAGGCGTGGCCCAGCGAGCCTGTCAGAGGCCCAGGTCTGCTCCTTCCAGGGAGGGTGGTGGTGAGGTCACCAGGGCGCGGACCCAGACCCCTGAGAAAAAGGTCCCGGGCACTGCTGGCGCTGTGCCCTCAGTCCCTCCTGCGGGGGGCAGCTCCTGCCTCGGGGACTCTGGCAGGTTTCAAATGCTCCTGATGCATTGGTGTGTTGTCTGCCTCTGCCCCTGAGAGCTGACGAAACTGCGCTGGGGAGAGGGCAGAGCTTCCCTGGGGGAGCTGCGTGGACACAGCAGAGCTGGGGTGTGGAGCCGGGCTTTCCCGTCACCACTGCTACCCCTAACGGTGCCAGTGCTGGTGGGTGTGCAAGGGCCGCGAAAGCCATCGTGTGTGGCATGGCAGGCCCCATCGGAGGGTCTCCCTGGCCGAGGGGCCTGCTGTGGCGTTGGAGGGGTAGGGGCCTACTGCTTCTCATGAGGCTCCTCCCTCCCTGACAGTGGCGAGAAGGCGCCCGCCTACCAGCGCTTCCATGCCCTGGCCCAGCCCGGCCTGCCGGGACTCGTGCTGCCCTACAAGTACCAGGTGCTGGCGGAGATGTTCCGCAGCATGGACACCATCGTGGGCATGCTCCACAACCGCTCCGAGACGCCCACCTTTGCCAAGGTCCAGCGGGGCGTCCAGGACATGATGCGTAGGTGAGTGGCCGGGGGTGGGCTGTGGCTGTCCTGGAGTTGGGGGTGGGCCCGGGCCTGCCTCCTGAGCCGCCCCCATCCTCCCATAGGCGTTTTGAGGAGTGCAATGTTGGCCAGATCAAAACCGTGTACCCGGCCTCCTACCGCTTCCGCCAGGAGCGCAGTGTCCCCACCTTCAAGGATGGCACCAGGAGGTCAGATTACCAGCTCACCATCGAGCCACTGCTGGAGCAGGGTGAGTGCTGGGTGCGGGACCTCGGTTTCCCCATCTGTGAGCCGCACAGTTTCCAGGGTGGGTGTGAGGTGCTGGGCATCTGGCCCAGGACTGGTCACGGGTGGGTGGCTGGGTGGCCTGGTGGGGACTTAGGCCTGGACTCGTCCCACAGAGGCTGACGGAGCAGCCCCCCAGCTCACGGCCTCGCGCCTCCTGCAGCGACGGC
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GGATCCTGAGTAGCAGAGATTACAGGTGCCTGCCATCACGTCCGGCTAATTTTTGTATTTATTGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCAGGCCACCTTTGAGGTATTTTGCAAGCACCAGTTGCATCATCAAACCGGTTTCTATTCCTTTAACTTAAAAAAAAATAGGCACAATTCACGCTTTTTACAGAAAACTTGGAAAATGGGAAAACAGAAGCCCTCCTCTGAGCCCTGGCCGCCTCCACCCGCGTCCCCTTCCCTCGCAGGCCTCCAGGCCCCGGCGGCCCGCATTGCTTTGCGGGGGACTTCCGCAGCGCTGCGCCTGGCCCTGCTTATTGGCGTCTCTGGAAGGAGTGGCTGTGGCTCGGGCTCTCCAGATAAACCGCGCTCTAGGCCGTTTCCCAGATAGGAGCGCTATAGGTTTTAAGAACTAAAACTTTAAAATCTCAGCCCTCAGCCATGCTAAAGGCAGTTTCTTTTCTTTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCTCGCTCTTTCGCTCAGGCTGAAGTGCAGTGGCGCCATTTCGCCTCCCGGGTTCAAGCGATTCTGCTGCCTCAGCCCCCCAAGCAGTTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTTTCAAAGTGCTGGGATTACAGGCGTGAACCATCGCGCCCGGCCCCTTTTCTTCGTTTCCATGTAATAGCTTGATTGAGAAATAATTCACATATCAAATCCACCCTTTTAAAAAGCGAGCAACGCGGATCGCGGAGGCCACGCCTGTGATCGCAGCGCTTTGGGAGGGGGCAGTTCCAAGAGAGCGGATCACTGAACCGGGGAGTTCGAGACCACCCGGCAACGTAATCTCCGCCTCGATAGAAATAGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGGCTCCGCCCCACGGGGTTCACGCCATTCTCAGGCCTCAGCCTTTTGAGTAGCTGGGACCACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAGAAATAGTTTTAAAAAAAGAAATAAGGAGCGTGCGGCCCGCGGGGGAAGCGCCTTTACCAGCTCGAGCCTGCAGCCCCCCAGGCCGCGCCGTCCTCGGCTCCCCCGGGCAGCGCCGGGGTTTTGTCAGGCGCGCGCTGCTGTTTGCCTGGATTGCGCTCATTCTGACCCTGAAGCCAGCGGCCCCACTGACACGCCCTGAAAAGTGGGAGCCACACGCGGGATCCGGAGACCGCGCTAAAGTCCCACGCACGACGGCGCCCGCCGGCGAGTCCACGCCCGCACGTCGGCGCATGCGCGCGGCCAAGCCGGTGCCCGCGCCCACCAGCGCGCATGCGCGCCCCGTCCCTTCCCTCCCCCCGTGCTCTGCCCCGATGGTTCGGTCCGCGCCGGGGGCGGGGCCAGGGCGCCCGCGGGAAATTTGGCGGGAACCGCGCCCGCCTCTTCCTCCCTTCCTTCTTTCCTTGCTTTCGCCGCGCACTCCGCCGCCATGGAGCAGCGCCGCGTCACCGACTTCTTCGCGCGCCGCCGCCCCGGGCCCCCCCGCATCGCGCCGCCCAAGCTGGCCTGCCGCACCCCCAGCCCCGCCAGGCCCGCACTCCGCGCCCCGGCCTCCGCTACCAGTGGCAGCCGCAAGCGCGCCCGCCCGCCCGCCGCCCCCGGACGCGACCAGGCCAGGCCACCGACCCGCAGGAGACTGCGGCTGTCGGTGGACGAGGTGAGGGGCGTGGGGAGACTGAGGCCGGGGAGTTGGGGGCGGGGAGACTGAGGCCCGGGGGGCAGGGCTCGGGGAAACTGAGGCGGAGGGACGGGGGCGGGGAAACAGGCGGGGGGGACGGGGCGCAGGGAACTCTGGGACAGGCCGGGGGATCCTGGGGGCGCCCTGCCACCACTGGGGACTTGGCTGGCTCCTGAGATGAGCAGGAGGCACTGGGGGGCTTGCACCGGGATCCGATGATGGGGCTGGAAGTCCAGCTTCTCTGCGAGGCCAGGGCAGGGGTCCGACCTGGAAACGGCCCCGGAAGACGAGAGCAAGGCTGTGTCCCCGGCCTTAGCACAGACCACCATCTACGGGAAGTCCTAAGCCCCCCAGCCATGCCCGTCCCAGTTAACTCAGAGCGGCTTCTGATCCTTCGGGGTCCTCTGCAGAGCCAGGAGCACCAGGTCTTGTCATGAGTTCACCCTTGGGGTCCCTCCCACCAGGTTTCCAGCCCCAGTACCCCCGAGGCCCCAGACATCCCAGCCTGCCCTTCTCCGGGCCAGAAGATAAAGAAATCCACCCCGGCAGCAGGTCAGCCGCCCCACCTGACATCCGCGCAGGACCAGGTGAGGGGCGGGGCCTGGGGCAGATGCGGGAGGGCTGAGTGGTGCCGGCCTGCCTGCCTGCCTGACGGCACCGTGTCCCCTGATCCCCCTGAAGGACACCATCTCTGAGCTTGCGTCATGCCTGCAACGGGCCCGGGAGCTGGGGGCAAGAGTCCGGGCGCTGAAGGCCAGTGCCCAGGATGCTGGGGAGTCCTGCACCCCAGAGGCCGAGGGCCGCCCTGAGGAGCCATGGTGAGTGCTGGGTGGGCGGCCACGAGGCCCCGGCAAAGGCCGGGTTGGTGGCAGGCGTGGCCCAGCGAGCCTGTCAGAGGCCCAGGTCTGCTCCTTCCAGGGAGGGTGGTGGTGAGGTCACCAGGGCGCGGACCCAGACCCCTGAGAAAAAGGTCCCGGGCACTGCTGGCGCTGTGCCCTCAGTCCCTCCTGCGGGGGGCAGCTCCTGCCTCGGGGACTCTGGCAGGTTTCAAATGCTCCTGATGCATTGGTGTGTTGTCTGCCTCTGCCCCTGAGAGCTGACGAAACTGCGCTGGGGAGAGGGCAGAGCTTCCCTGGGGGAGCTGCGTGGACACAGCAGAGCTGGGGTGTGGAGCCGGGCTTTCCCGTCACCACTGCTACCCCTAACGGTGCCAGTGCTGGTGGGTGTGCAAGGGCCGCGAAAGCCATCGTGTGTGGCATGGCAGGCCCCATCGGAGGGTCTCCCTGGCCGAGGGGCCTGCTGTGGCGTTGGAGGGGTAGGGGCCTACTGCTTCTCATGAGGCTCCTCCCTCCCTGACAGTGGCGAGAAGGCGCCCGCCTACCAGCGCTTCCATGCCCTGGCCCAGCCCGGCCTGCCGGGACTCGTGCTGCCCTACAAGTACCAGGTGCTGGCGGAGATGTTCCGCAGCATGGACACCATCGTGGGCATGCTCCACAACCGCTCCGAGACGCCCACCTTTGCCAAGGTCCAGCGGGGCGTCCAGGACATGATGCGTAGGTGAGTGGCCGGGGGTGGGCTGTGGCTGTCCTGGAGTTGGGGGTGGGCCCGGGCCTGCCTCCTGAGCCGCCCCCATCCTCCCATAGGCGTTTTGAGGAGTGCAATGTTGGCCAGATCAAAACCGTGTACCCGGCCTCCTACCGCTTCCGCCAGGAGCGCAGTGTCCCCACCTTCAAGGATGGCACCAGGAGGTCAGATTACCAGCTCACCATCGAGCCACTGCTGGAGCAGGGTGAGTGCTGGGTGCGGGACCTCGGTTTCCCCATCTGTGAGCCGCACAGTTTCCAGGGTGGGTGTGAGGTGCTGGGCATCTGGCCCAGGACTGGTCACGGGTGGGTGGCTGGGTGGCCTGGTGGGGACTTAGGCCTGGACTCGTCCCACAGAGGCTGACGGAGCAGCCCCCCAGCTCACGGCCTCGCGCCTCCTGCAGCGACGGC
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Task1_train_23011
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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.
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Pathogenic; Meier-Gorlin syndrome 4
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GCGCCATTTCGCCTCCCGGGTTCAAGCGATTCTGCTGCCTCAGCCCCCCAAGCAGTTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTTTCAAAGTGCTGGGATTACAGGCGTGAACCATCGCGCCCGGCCCCTTTTCTTCGTTTCCATGTAATAGCTTGATTGAGAAATAATTCACATATCAAATCCACCCTTTTAAAAAGCGAGCAACGCGGATCGCGGAGGCCACGCCTGTGATCGCAGCGCTTTGGGAGGGGGCAGTTCCAAGAGAGCGGATCACTGAACCGGGGAGTTCGAGACCACCCGGCAACGTAATCTCCGCCTCGATAGAAATAGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGGCTCCGCCCCACGGGGTTCACGCCATTCTCAGGCCTCAGCCTTTTGAGTAGCTGGGACCACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAGAAATAGTTTTAAAAAAAGAAATAAGGAGCGTGCGGCCCGCGGGGGAAGCGCCTTTACCAGCTCGAGCCTGCAGCCCCCCAGGCCGCGCCGTCCTCGGCTCCCCCGGGCAGCGCCGGGGTTTTGTCAGGCGCGCGCTGCTGTTTGCCTGGATTGCGCTCATTCTGACCCTGAAGCCAGCGGCCCCACTGACACGCCCTGAAAAGTGGGAGCCACACGCGGGATCCGGAGACCGCGCTAAAGTCCCACGCACGACGGCGCCCGCCGGCGAGTCCACGCCCGCACGTCGGCGCATGCGCGCGGCCAAGCCGGTGCCCGCGCCCACCAGCGCGCATGCGCGCCCCGTCCCTTCCCTCCCCCCGTGCTCTGCCCCGATGGTTCGGTCCGCGCCGGGGGCGGGGCCAGGGCGCCCGCGGGAAATTTGGCGGGAACCGCGCCCGCCTCTTCCTCCCTTCCTTCTTTCCTTGCTTTCGCCGCGCACTCCGCCGCCATGGAGCAGCGCCGCGTCACCGACTTCTTCGCGCGCCGCCGCCCCGGGCCCCCCCGCATCGCGCCGCCCAAGCTGGCCTGCCGCACCCCCAGCCCCGCCAGGCCCGCACTCCGCGCCCCGGCCTCCGCTACCAGTGGCAGCCGCAAGCGCGCCCGCCCGCCCGCCGCCCCCGGACGCGACCAGGCCAGGCCACCGGCCCGCAGGAGACTGCGGCTGTCGGTGGACGAGGTGAGGGGCGTGGGGAGACTGAGGCCGGGGAGTTGGGGGCGGGGAGACTGAGGCCCGGGGGGCAGGGCTCGGGGAAACTGAGGCGGAGGGACGGGGGCGGGGAAACAGGCGGGGGGGACGGGGCGCAGGGAACTCTGGGACAGGCCGGGGGATCCTGGGGGCGCCCTGCCACCACTGGGGACTTGGCTGGCTCCTGAGATGAGCAGGAGGCACTGGGGGGCTTGCACCGGGATCCGATGATGGGGCTGGAAGTCCAGCTTCTCTGCGAGGCCAGGGCAGGGGTCCGACCTGGAAACGGCCCCGGAAGACGAGAGCAAGGCTGTGTCCCCGGCCTTAGCACAGACCACCATCTACGGGAAGTCCTAAGCCCCCCAGCCATGCCCGTCCCAGTTAACTCAGAGCGGCTTCTGATCCTTCGGGGTCCTCTGCAGAGCCAGGAGCACCAGGTCTTGTCATGAGTTCACCCTTGGGGTCCCTCCCACCAGGTTTCCAGCCCCAGTACCCCCGAGGCCCCAGACATCCCAGCCTGCCCTTCTCCGGGCCAGAAGATAAAGAAATCCACCCCGGCAGCAGGTCAGCCGCCCCACCTGACATCCGCGCAGGACCAGGTGAGGGGCGGGGCCTGGGGCAGATGCGGGAGGGCTGAGTGGTGCCGGCCTGCCTGCCTGCCTGACGGCACCGTGTCCCCTGATCCCCCTGAAGGACACCATCTCTGAGCTTGCGTCATGCCTGCAACGGGCCCGGGAGCTGGGGGCAAGAGTCCGGGCGCTGAAGGCCAGTGCCCAGGATGCTGGGGAGTCCTGCACCCCAGAGGCCGAGGGCCGCCCTGAGGAGCCATGGTGAGTGCTGGGTGGGCGGCCACGAGGCCCCGGCAAAGGCCGGGTTGGTGGCAGGCGTGGCCCAGCGAGCCTGTCAGAGGCCCAGGTCTGCTCCTTCCAGGGAGGGTGGTGGTGAGGTCACCAGGGCGCGGACCCAGACCCCTGAGAAAAAGGTCCCGGGCACTGCTGGCGCTGTGCCCTCAGTCCCTCCTGCGGGGGGCAGCTCCTGCCTCGGGGACTCTGGCAGGTTTCAAATGCTCCTGATGCATTGGTGTGTTGTCTGCCTCTGCCCCTGAGAGCTGACGAAACTGCGCTGGGGAGAGGGCAGAGCTTCCCTGGGGGAGCTGCGTGGACACAGCAGAGCTGGGGTGTGGAGCCGGGCTTTCCCGTCACCACTGCTACCCCTAACGGTGCCAGTGCTGGTGGGTGTGCAAGGGCCGCGAAAGCCATCGTGTGTGGCATGGCAGGCCCCATCGGAGGGTCTCCCTGGCCGAGGGGCCTGCTGTGGCGTTGGAGGGGTAGGGGCCTACTGCTTCTCATGAGGCTCCTCCCTCCCTGACAGTGGCGAGAAGGCGCCCGCCTACCAGCGCTTCCATGCCCTGGCCCAGCCCGGCCTGCCGGGACTCGTGCTGCCCTACAAGTACCAGGTGCTGGCGGAGATGTTCCGCAGCATGGACACCATCGTGGGCATGCTCCACAACCGCTCCGAGACGCCCACCTTTGCCAAGGTCCAGCGGGGCGTCCAGGACATGATGCGTAGGTGAGTGGCCGGGGGTGGGCTGTGGCTGTCCTGGAGTTGGGGGTGGGCCCGGGCCTGCCTCCTGAGCCGCCCCCATCCTCCCATAGGCGTTTTGAGGAGTGCAATGTTGGCCAGATCAAAACCGTGTACCCGGCCTCCTACCGCTTCCGCCAGGAGCGCAGTGTCCCCACCTTCAAGGATGGCACCAGGAGGTCAGATTACCAGCTCACCATCGAGCCACTGCTGGAGCAGGGTGAGTGCTGGGTGCGGGACCTCGGTTTCCCCATCTGTGAGCCGCACAGTTTCCAGGGTGGGTGTGAGGTGCTGGGCATCTGGCCCAGGACTGGTCACGGGTGGGTGGCTGGGTGGCCTGGTGGGGACTTAGGCCTGGACTCGTCCCACAGAGGCTGACGGAGCAGCCCCCCAGCTCACGGCCTCGCGCCTCCTGCAGCGACGGCAGATCTTCAGCCAGAAGCTGGTGGAGCATGTCAAGGAGCACCACAAGGTGAGCGGCCCCCGGCCCCGCTGTGTGAAGATGGTGGCACCAGCACTGCCTCAGCACCTAACCCTGTGCTTGGAGCATCCCTGCCACTCACAGCTTCTCCCGGGATGGAACTGGGCTGGGTTCACCCTGAGCTGAGGGCTGGTGTGCTCAGGGTGCAGCCGCAGGCACTGAGGAGGTCCCCAAGGCGTTCAGCGAGCGCGGACCATGGGAGGCCTTGTGCTCTCCCTCCAAGCTGAGCACTGGGCAGAGGCTGAGTGACTTGCCCGAGGCGGCCCGGCTGGGACGTAAGCACAGGCCTACCTCACATGCAGTCTGCCCTTGTCTCAGATGTGCCCAGGGTCACCCATCTACTCCTTCTCCCCAGGCCTTCCTGGCCTCCCTGAGCCCCGCCATGGTGGTGCCGGAGGACCAGCTGACCCGCTGGCACCCGCGCTTCAACGTGGATGAAGTACCCGACATCGAGCCGGCCGCGCTGCCCCAGCCACCCGCCACGGAGAAGCTCACCACTGCTCAGGAGGTGCTGGCCCGGGCCCGCAACCTGATTTCACCCAGGGTGAGACTGCGAGGCTTGGGCAGCCCATTTCTCCCGGGTG
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GCGCCATTTCGCCTCCCGGGTTCAAGCGATTCTGCTGCCTCAGCCCCCCAAGCAGTTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTTTCAAAGTGCTGGGATTACAGGCGTGAACCATCGCGCCCGGCCCCTTTTCTTCGTTTCCATGTAATAGCTTGATTGAGAAATAATTCACATATCAAATCCACCCTTTTAAAAAGCGAGCAACGCGGATCGCGGAGGCCACGCCTGTGATCGCAGCGCTTTGGGAGGGGGCAGTTCCAAGAGAGCGGATCACTGAACCGGGGAGTTCGAGACCACCCGGCAACGTAATCTCCGCCTCGATAGAAATAGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGGCTCCGCCCCACGGGGTTCACGCCATTCTCAGGCCTCAGCCTTTTGAGTAGCTGGGACCACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAGAAATAGTTTTAAAAAAAGAAATAAGGAGCGTGCGGCCCGCGGGGGAAGCGCCTTTACCAGCTCGAGCCTGCAGCCCCCCAGGCCGCGCCGTCCTCGGCTCCCCCGGGCAGCGCCGGGGTTTTGTCAGGCGCGCGCTGCTGTTTGCCTGGATTGCGCTCATTCTGACCCTGAAGCCAGCGGCCCCACTGACACGCCCTGAAAAGTGGGAGCCACACGCGGGATCCGGAGACCGCGCTAAAGTCCCACGCACGACGGCGCCCGCCGGCGAGTCCACGCCCGCACGTCGGCGCATGCGCGCGGCCAAGCCGGTGCCCGCGCCCACCAGCGCGCATGCGCGCCCCGTCCCTTCCCTCCCCCCGTGCTCTGCCCCGATGGTTCGGTCCGCGCCGGGGGCGGGGCCAGGGCGCCCGCGGGAAATTTGGCGGGAACCGCGCCCGCCTCTTCCTCCCTTCCTTCTTTCCTTGCTTTCGCCGCGCACTCCGCCGCCATGGAGCAGCGCCGCGTCACCGACTTCTTCGCGCGCCGCCGCCCCGGGCCCCCCCGCATCGCGCCGCCCAAGCTGGCCTGCCGCACCCCCAGCCCCGCCAGGCCCGCACTCCGCGCCCCGGCCTCCGCTACCAGTGGCAGCCGCAAGCGCGCCCGCCCGCCCGCCGCCCCCGGACGCGACCAGGCCAGGCCACCGGCCCGCAGGAGACTGCGGCTGTCGGTGGACGAGGTGAGGGGCGTGGGGAGACTGAGGCCGGGGAGTTGGGGGCGGGGAGACTGAGGCCCGGGGGGCAGGGCTCGGGGAAACTGAGGCGGAGGGACGGGGGCGGGGAAACAGGCGGGGGGGACGGGGCGCAGGGAACTCTGGGACAGGCCGGGGGATCCTGGGGGCGCCCTGCCACCACTGGGGACTTGGCTGGCTCCTGAGATGAGCAGGAGGCACTGGGGGGCTTGCACCGGGATCCGATGATGGGGCTGGAAGTCCAGCTTCTCTGCGAGGCCAGGGCAGGGGTCCGACCTGGAAACGGCCCCGGAAGACGAGAGCAAGGCTGTGTCCCCGGCCTTAGCACAGACCACCATCTACGGGAAGTCCTAAGCCCCCCAGCCATGCCCGTCCCAGTTAACTCAGAGCGGCTTCTGATCCTTCGGGGTCCTCTGCAGAGCCAGGAGCACCAGGTCTTGTCATGAGTTCACCCTTGGGGTCCCTCCCACCAGGTTTCCAGCCCCAGTACCCCCGAGGCCCCAGACATCCCAGCCTGCCCTTCTCCGGGCCAGAAGATAAAGAAATCCACCCCGGCAGCAGGTCAGCCGCCCCACCTGACATCCGCGCAGGACCACGTGAGGGGCGGGGCCTGGGGCAGATGCGGGAGGGCTGAGTGGTGCCGGCCTGCCTGCCTGCCTGACGGCACCGTGTCCCCTGATCCCCCTGAAGGACACCATCTCTGAGCTTGCGTCATGCCTGCAACGGGCCCGGGAGCTGGGGGCAAGAGTCCGGGCGCTGAAGGCCAGTGCCCAGGATGCTGGGGAGTCCTGCACCCCAGAGGCCGAGGGCCGCCCTGAGGAGCCATGGTGAGTGCTGGGTGGGCGGCCACGAGGCCCCGGCAAAGGCCGGGTTGGTGGCAGGCGTGGCCCAGCGAGCCTGTCAGAGGCCCAGGTCTGCTCCTTCCAGGGAGGGTGGTGGTGAGGTCACCAGGGCGCGGACCCAGACCCCTGAGAAAAAGGTCCCGGGCACTGCTGGCGCTGTGCCCTCAGTCCCTCCTGCGGGGGGCAGCTCCTGCCTCGGGGACTCTGGCAGGTTTCAAATGCTCCTGATGCATTGGTGTGTTGTCTGCCTCTGCCCCTGAGAGCTGACGAAACTGCGCTGGGGAGAGGGCAGAGCTTCCCTGGGGGAGCTGCGTGGACACAGCAGAGCTGGGGTGTGGAGCCGGGCTTTCCCGTCACCACTGCTACCCCTAACGGTGCCAGTGCTGGTGGGTGTGCAAGGGCCGCGAAAGCCATCGTGTGTGGCATGGCAGGCCCCATCGGAGGGTCTCCCTGGCCGAGGGGCCTGCTGTGGCGTTGGAGGGGTAGGGGCCTACTGCTTCTCATGAGGCTCCTCCCTCCCTGACAGTGGCGAGAAGGCGCCCGCCTACCAGCGCTTCCATGCCCTGGCCCAGCCCGGCCTGCCGGGACTCGTGCTGCCCTACAAGTACCAGGTGCTGGCGGAGATGTTCCGCAGCATGGACACCATCGTGGGCATGCTCCACAACCGCTCCGAGACGCCCACCTTTGCCAAGGTCCAGCGGGGCGTCCAGGACATGATGCGTAGGTGAGTGGCCGGGGGTGGGCTGTGGCTGTCCTGGAGTTGGGGGTGGGCCCGGGCCTGCCTCCTGAGCCGCCCCCATCCTCCCATAGGCGTTTTGAGGAGTGCAATGTTGGCCAGATCAAAACCGTGTACCCGGCCTCCTACCGCTTCCGCCAGGAGCGCAGTGTCCCCACCTTCAAGGATGGCACCAGGAGGTCAGATTACCAGCTCACCATCGAGCCACTGCTGGAGCAGGGTGAGTGCTGGGTGCGGGACCTCGGTTTCCCCATCTGTGAGCCGCACAGTTTCCAGGGTGGGTGTGAGGTGCTGGGCATCTGGCCCAGGACTGGTCACGGGTGGGTGGCTGGGTGGCCTGGTGGGGACTTAGGCCTGGACTCGTCCCACAGAGGCTGACGGAGCAGCCCCCCAGCTCACGGCCTCGCGCCTCCTGCAGCGACGGCAGATCTTCAGCCAGAAGCTGGTGGAGCATGTCAAGGAGCACCACAAGGTGAGCGGCCCCCGGCCCCGCTGTGTGAAGATGGTGGCACCAGCACTGCCTCAGCACCTAACCCTGTGCTTGGAGCATCCCTGCCACTCACAGCTTCTCCCGGGATGGAACTGGGCTGGGTTCACCCTGAGCTGAGGGCTGGTGTGCTCAGGGTGCAGCCGCAGGCACTGAGGAGGTCCCCAAGGCGTTCAGCGAGCGCGGACCATGGGAGGCCTTGTGCTCTCCCTCCAAGCTGAGCACTGGGCAGAGGCTGAGTGACTTGCCCGAGGCGGCCCGGCTGGGACGTAAGCACAGGCCTACCTCACATGCAGTCTGCCCTTGTCTCAGATGTGCCCAGGGTCACCCATCTACTCCTTCTCCCCAGGCCTTCCTGGCCTCCCTGAGCCCCGCCATGGTGGTGCCGGAGGACCAGCTGACCCGCTGGCACCCGCGCTTCAACGTGGATGAAGTACCCGACATCGAGCCGGCCGCGCTGCCCCAGCCACCCGCCACGGAGAAGCTCACCACTGCTCAGGAGGTGCTGGCCCGGGCCCGCAACCTGATTTCACCCAGGGTGAGACTGCGAGGCTTGGGCAGCCCATTTCTCCCGGGTG
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Task1_train_23012
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A change on Chromosome 16 affects gene APRT (adenine phosphoribosyltransferase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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CCGCCCGGCCCCTCCACACCTGCAGCCTCTGGAGGCAGCTTCCCCCTCACAGCTCTGGCCCTTTCCCTGACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACG
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CCGCCCGGCCCCTCCACACCTGCAGCCTCTGGAGGCAGCTTCCCCCTCACAGCTCTGGCCCTTTCCCTGACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAAAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACG
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Task1_train_23013
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A sequence alteration has been identified in APRT (adenine phosphoribosyltransferase) on Chromosome 16. Is it disease-inducing or harmless?
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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CAGCTTCCCCCTCACAGCTCTGGCCCTTTCCCTGACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCA
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CAGCTTCCCCCTCACAGCTCTGGCCCTTTCCCTGACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGTCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCA
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Task1_train_23014
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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.
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Pathogenic; APRT-related disorder
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CAGCTTCCCCCTCACAGCTCTGGCCCTTTCCCTGACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCA
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CAGCTTCCCCCTCACAGCTCTGGCCCTTTCCCTGACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGTCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCA
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Task1_train_23015
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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?
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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ACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACG
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ACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCGCTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACG
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Task1_train_23016
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A variant has been detected on Chromosome 16 in APRT (adenine phosphoribosyltransferase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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AGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTG
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AGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGAACTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTG
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Task1_train_23017
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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.
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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CCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCG
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CCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCGGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCG
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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?
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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CTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTG
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CTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCGTGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTG
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Task1_train_23019
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This mutation occurs in APRT (adenine phosphoribosyltransferase) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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ACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAA
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ACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCATCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAA
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Task1_train_23020
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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.
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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GGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGC
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GGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCACCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGC
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Task1_train_23021
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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.
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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CAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTG
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CAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGCCCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTG
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Task1_train_23022
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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?
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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GTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACG
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GTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTACTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACG
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Task1_train_23023
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A variant affecting Chromosome 16, within the gene APRT (adenine phosphoribosyltransferase), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; not provided
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GCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGA
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GCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTGCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGA
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Task1_train_23024
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Gene APRT (adenine phosphoribosyltransferase) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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CCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGT
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CCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAAACTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGT
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Task1_train_23025
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An alteration has been detected in APRT (adenine phosphoribosyltransferase) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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GTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCC
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GTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCGGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCC
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Task1_train_23026
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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?
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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CGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCC
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CGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACCCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCC
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Task1_train_23027
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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.
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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GAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGC
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GAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGATTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGC
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Task1_train_23028
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A variant affecting Chromosome 16, within the gene APRT (adenine phosphoribosyltransferase), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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GCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCC
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GCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCATGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCC
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Task1_train_23029
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This mutation occurs in APRT (adenine phosphoribosyltransferase) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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GGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAG
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GGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGACCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAG
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Task1_train_23030
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Consider a variant on Chromosome 16 in gene APRT (adenine phosphoribosyltransferase). Determine its clinical classification and disease relevance.
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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CTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGA
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CTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGACTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGA
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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?
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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AACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAG
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AACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTCGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAG
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Task1_train_23032
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Consider this mutation in APRT (adenine phosphoribosyltransferase) on Chromosome 16. Is this a benign change or a disease-causing variant?
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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AGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGG
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AGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGGGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGG
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Task1_train_23033
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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.
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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AGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAA
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AGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCGGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAA
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Task1_train_23034
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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.
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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TGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAAAGGAAAATAAATCTCC
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TGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTGCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAAAGGAAAATAAATCTCC
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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
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GGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAAAGGAAAATAAATCTCCGGACCCCAAAATCACTCAGCCAAGAGAAAAATCAAGCTGGGAATTAGGCAAACCTGCCTCCCGTTTTATTTCTAAATAACATAGTTACAATGATAAGAAGCTACACGCCTCCCTCATAATTAGCGTCCAGGGAAATTCCTTGTGGACAAAGGACAGACGGAACTGGAAGTCATCCCTCTGGGGCTCCCCTGAGACAAACGCTTATATGATTGCCCCGTTCCCTTACTGTTTACATAAAAATG
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GGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCTATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAAAGGAAAATAAATCTCCGGACCCCAAAATCACTCAGCCAAGAGAAAAATCAAGCTGGGAATTAGGCAAACCTGCCTCCCGTTTTATTTCTAAATAACATAGTTACAATGATAAGAAGCTACACGCCTCCCTCATAATTAGCGTCCAGGGAAATTCCTTGTGGACAAAGGACAGACGGAACTGGAAGTCATCCCTCTGGGGCTCCCCTGAGACAAACGCTTATATGATTGCCCCGTTCCCTTACTGTTTACATAAAAATG
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Task1_train_23036
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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?
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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GGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAAAGGAAAATAAATCTCCGGACCCCAAAATCACTCAGCCAAGAGAAAAATCAAGCTGGGAATTAGGCAAACCTGCCTCCCGTTTTATTTCTAAATAACATAGTTACAATGATAAGAAGCTACACGCCTCCCTCATAATTAGCGTCCAGGGAAATTCCTTGTGGACAAAGGACAGACGGAACTGGAAGTCATCCCTCTGGGGCTCCCCTGAGACAAACGCTTATATGATTGCCCCGTTCCCTTACTGTTTACATAAAAATGC
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GGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCGTGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAAAGGAAAATAAATCTCCGGACCCCAAAATCACTCAGCCAAGAGAAAAATCAAGCTGGGAATTAGGCAAACCTGCCTCCCGTTTTATTTCTAAATAACATAGTTACAATGATAAGAAGCTACACGCCTCCCTCATAATTAGCGTCCAGGGAAATTCCTTGTGGACAAAGGACAGACGGAACTGGAAGTCATCCCTCTGGGGCTCCCCTGAGACAAACGCTTATATGATTGCCCCGTTCCCTTACTGTTTACATAAAAATGC
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Task1_train_23037
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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.
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Pathogenic; Adenine phosphoribosyltransferase deficiency
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GAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAAAGGAAAATAAATCTCCGGACCCCAAAATCACTCAGCCAAGAGAAAAATCAAGCTGGGAATTAGGCAAACCTGCCTCCCGTTTTATTTCTAAATAACATAGTTACAATGATAAGAAGCTACACGCCTCCCTCATAATTAGCGTCCAGGGAAATTCCTTGTGGACAAAGGACAGACGGAACTGGAAGTCATCCCTCTGGGGCTCCCCTGAGACAAACGCTTATATGATTGCCCCGTTCCCTTACTGTTTACATAAAAATGCG
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GAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCACGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAAAGGAAAATAAATCTCCGGACCCCAAAATCACTCAGCCAAGAGAAAAATCAAGCTGGGAATTAGGCAAACCTGCCTCCCGTTTTATTTCTAAATAACATAGTTACAATGATAAGAAGCTACACGCCTCCCTCATAATTAGCGTCCAGGGAAATTCCTTGTGGACAAAGGACAGACGGAACTGGAAGTCATCCCTCTGGGGCTCCCCTGAGACAAACGCTTATATGATTGCCCCGTTCCCTTACTGTTTACATAAAAATGCG
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Task1_train_23038
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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?
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Pathogenic; Mucopolysaccharidosis, MPS-IV-A
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TGGAGCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTTCATGGAGGAAAGCCCCTTTTAACAGCCTACTCTCTGCTGGGGAAGGGAGGGGAGGGAAAGGGACGGGAAGGGAGGCCCTGCCCTGGGAGAAGGGAGAGCCACAACGCTCAGAATCCCTACAGAAACCCTAAGACAGGGAGGAGCAGGACCAACATGTGAAAGGCAAGAGAAAACACAGAAAACAAAAACAGACCCAGGGAGCTGACACAGATTCACACACTCAAGAAGGGCAAGGATTTTACAGTAACCACAATTCTCTTTCTGCTGCCCCTGGGCCTCCTGATTCGGGAAAGGCGAGGTATGCCTCTAACATTCCCAGAGCGGGTGCTGCAGGCCAAGGGGCTCGTCCGAGGACTGTGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGAACGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCACAGGCGGCAATGCCGGGGACCGATGCCCAGGATGGCCCTTGCAGGTGACAGTGCTGGGTAAAACCCGAAAGAAGAGCGGGTGCGGGGCCTGCACAGGGTGGGGAGGAGCCAAAACACTCCTGGGCATCATTGCCCTCCAGACACTGCCCCACGAGCAGCTTCCCTCCTCAGCCTGGGTGCTCAGCCCTCAGCCCCAGTTCTCACTTCCAGTCTTTAGACTCTCCATTACACTAAATGATTTTCTTCCCAATTAAGGCAGATTAGCAGGGGGTTCATATCTCAAGACTTTGATGCTGGGAGTGGGTGGGGCTGAGAGAGACCTCTCAGGAGGGGCTGGGGGATGCTGGAGCGTAGGGGTCAGCAGGGGCCAGAAAAGACCGTGGGGAGGGAGCAGGAGGCTTGAGGCGAGGGCTCGTGGGAGAAAGCCTGGCGCTGACAATGCTGGGGTAGCCTGGGGCGGCAGGAGCCCCAGGCCCTGTGCGTGTGGCGTTTCACCCTCCCACACTGGGGGTTGCTGTGGTGATGCCAATGCTGCGGCCCCCATGTAGCACCTGGGCCAAGCAGGCCACGTCTCTGTCGCCTCCAGCCTGGGGTGTGGGGGAGGCTCAGATGCCCTGGCAGGATGGAGAGGCCCATGGGGGCCACCTGACCAGGGTCTAGGCCACGCCTGTAGCTATGCCGCGGGGCTACTGTCATCACGCGGGGCAGGAAGAGGTCCCTCCCTCCTCTCCAGCCTGTCAGCTGCCATGCCCTAGGCCACGCTGAACGACTGGGGGCCACACAGAGAAGGCTGTGGAGGGGGTGGAGTTCCTGCCTGTCTCACCCTCCTGTGCCTCCCCCAGGACGGTGCTCAGGGGCCACGTCTGGATAGAGATGGGGGCAGCTCCGCCTGCGCCCACGTCCCGAGCCCTGTACCTGTCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCGCCATCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGGGCTGGGGTGACTGGGTATCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCGGCCGGGGCTGGGGTGACTGGGTGTTTGGGCGGCCGGGGCTGGGGTGACTGGGTGTCTAGGGTGCCTGGGTGTCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGTGGCCAGGGCTGGGGTGCCTGGGTGTTTGGGCAGCCGGGGCTGGGGTGCCTGGGTGGCCGGGGCGACTGGGTATCTGGGGTGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCAACCGGGGCTGGGGTGGCTGGGTGTCTGGGTGGCCGGGGCTGGGGTGACTGGGTGTCTGGGGTGCCTGGGTGTCTAGGGCTGGAGTGCCTGGGCGGCCAGGGCTGGGGTACCTGGGTGTCTGGGCGGCCGGGGCTGGGGTGCCTGGATGTCTGGGGCTGGGGTTTCTGGGCAGCCGGGGCTGGGGTGCCTGGGTGTCCGGGACTGGGATTCCTGGGCAGCTGGGGCTGGGGTGCCTGGGTGTCTGGGGTGCCTGGGCGGCCGGGGCTAGGGTGCCTGGGCGTCCCCTCATTGCTGGTCCTTGGCAAGGCTGGGCCAGACCCTGGGGAGGGTGGGCAGACAAGAGGATAAGCAGGCGGCACGGGGTCTCCTGACCATGTTGGGCCTGCGAGTCAGGAACGGGGAGTGGGGGACGCAGCTGGGCACCGTCTCTCCCCACAGTGACCAACCACTTGTGCCAGGTCTCGAGAGGGGACAAGTGAGCAAAACTCCCTCTACCCGGCCCCAGATAGCCGGAGGCGGCAGCTGCCTTGGGCCGTCCCCACCTTGCTTCCCGTTGAGCCTTTGGAATCCTCATCCCTTCAGGACCACCCAGGAAACGTGGTTTGAGTGGAATGGTGGCTGCTCTCAGGGGGTAGGAAATGGACTTTGGACACTAAGGATTTGGACAGAAGGTAAGAGCTGGGCCATGGACTTGGCAGAGCAGCGACTTGGATGGAAGGAAGAAGGAAGCTACAGGAAGCCATGAGGCACCAAAAACCAGGCTGGGCAGGGAACAGGGGTGGGGCAGACAGGGGCAGCGTGTGCCCGGGCTACAGACAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCGTGTGCCCAGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCATGTGCCCGGGTACAGGCAGGGATGAGGCCCCTCTCCTGGCCTTGCCCTCCCTCCTAAGGCTTTCTTGAAAGCCAGGGCCTCGCTGTGCTTGGACCCTCCCAGGATGGCCCCTGCCCCACAGGCAGGTCCCCAGGTCCTCTCGTCTCAGGCACCCCTGCCTCCTCCTGCCCTGGGCACGAGCACGCCTGTGTCCAGAACCAGGAGGGCTGCTGGGCCTGGGGGTTGCACCTGATTAGCAGCTCTGGGCTTCACTACTTGGATCGGGGGAAGGGGCCGGGGCAGGTCTAGCACCAACCTGTCCATCAGCCGGCCCTGCAGGAGGGTGGGGAGGAGGTTGAGGCCATCAATGGCCCTGTCGCTGGGCGGCGTCAGGCCCGCAAGGGCCAGGCTGGTGGTGAAGAGGTCCATGATGCTGCCCAGCTGGTGGCTCACCTGAAACACATGGCAGCAACACGGTCAGGGCACTCTGCACCGA
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TGGAGCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTTCATGGAGGAAAGCCCCTTTTAACAGCCTACTCTCTGCTGGGGAAGGGAGGGGAGGGAAAGGGACGGGAAGGGAGGCCCTGCCCTGGGAGAAGGGAGAGCCACAACGCTCAGAATCCCTACAGAAACCCTAAGACAGGGAGGAGCAGGACCAACATGTGAAAGGCAAGAGAAAACACAGAAAACAAAAACAGACCCAGGGAGCTGACACAGATTCACACACTCAAGAAGGGCAAGGATTTTACAGTAACCACAATTCTCTTTCTGCTGCCCCTGGGCCTCCTGATTCGGGAAAGGCGAGGTATGCCTCTAACATTCCCAGAGCGGGTGCTGCAGGCCAAGGGGCTCGTCCGAGGACTGTGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGAACGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCACAGGCGGCAATGCCGGGGACCGATGCCCAGGATGGCCCTTGCAGGTGACAGTGCTGGGTAAAACCCGAAAGAAGAGCGGGTGCGGGGCCTGCACAGGGTGGGGAGGAGCCAAAACACTCCTGGGCATCATTGCCCTCCAGACACTGCCCCACGAGCAGCTTCCCTCCTCAGCCTGGGTGCTCAGCCCTCAGCCCCAGTTCTCACTTCCAGTCTTTAGACTCTCCATTACACTAAATGATTTTCTTCCCAATTAAGGCAGATTAGCAGGGGGTTCATATCTCAAGACTTTGATGCTGGGAGTGGGTGGGGCTGAGAGAGACCTCTCAGGAGGGGCTGGGGGATGCTGGAGCGTAGGGGTCAGCAGGGGCCAGAAAAGACCGTGGGGAGGGAGCAGGAGGCTTGAGGCGAGGGCTCGTGGGAGAAAGCCTGGCGCTGACAATGCTGGGGTAGCCTGGGGCGGCAGGAGCCCCAGGCCCTGTGCGTGTGGCGTTTCACCCTCCCACACTGGGGGTTGCTGTGGTGATGCCAATGCTGCGGCCCCCATGTAGCACCTGGGCCAAGCAGGCCACGTCTCTGTCGCCTCCAGCCTGGGGTGTGGGGGAGGCTCAGATGCCCTGGCAGGATGGAGAGGCCCATGGGGGCCACCTGACCAGGGTCTAGGCCACGCCTGTAGCTATGCCGCGGGGCTACTGTCATCACGCGGGGCAGGAAGAGGTCCCTCCCTCCTCTCCAGCCTGTCAGCTGCCATGCCCTAGGCCACGCTGAACGACTGGGGGCCACACAGAGAAGGCTGTGGAGGGGGTGGAGTTCCTGCCTGTCTCACCCTCCTGTGCCTCCCCCAGGACGGTGCTCAGGGGCCACGTCTGGATAGAGATGGGGGCAGCTCCGCCTGCGCCCACGTCCCGAGCCCTGTACCTGTCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCACCATCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGGGCTGGGGTGACTGGGTATCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCGGCCGGGGCTGGGGTGACTGGGTGTTTGGGCGGCCGGGGCTGGGGTGACTGGGTGTCTAGGGTGCCTGGGTGTCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGTGGCCAGGGCTGGGGTGCCTGGGTGTTTGGGCAGCCGGGGCTGGGGTGCCTGGGTGGCCGGGGCGACTGGGTATCTGGGGTGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCAACCGGGGCTGGGGTGGCTGGGTGTCTGGGTGGCCGGGGCTGGGGTGACTGGGTGTCTGGGGTGCCTGGGTGTCTAGGGCTGGAGTGCCTGGGCGGCCAGGGCTGGGGTACCTGGGTGTCTGGGCGGCCGGGGCTGGGGTGCCTGGATGTCTGGGGCTGGGGTTTCTGGGCAGCCGGGGCTGGGGTGCCTGGGTGTCCGGGACTGGGATTCCTGGGCAGCTGGGGCTGGGGTGCCTGGGTGTCTGGGGTGCCTGGGCGGCCGGGGCTAGGGTGCCTGGGCGTCCCCTCATTGCTGGTCCTTGGCAAGGCTGGGCCAGACCCTGGGGAGGGTGGGCAGACAAGAGGATAAGCAGGCGGCACGGGGTCTCCTGACCATGTTGGGCCTGCGAGTCAGGAACGGGGAGTGGGGGACGCAGCTGGGCACCGTCTCTCCCCACAGTGACCAACCACTTGTGCCAGGTCTCGAGAGGGGACAAGTGAGCAAAACTCCCTCTACCCGGCCCCAGATAGCCGGAGGCGGCAGCTGCCTTGGGCCGTCCCCACCTTGCTTCCCGTTGAGCCTTTGGAATCCTCATCCCTTCAGGACCACCCAGGAAACGTGGTTTGAGTGGAATGGTGGCTGCTCTCAGGGGGTAGGAAATGGACTTTGGACACTAAGGATTTGGACAGAAGGTAAGAGCTGGGCCATGGACTTGGCAGAGCAGCGACTTGGATGGAAGGAAGAAGGAAGCTACAGGAAGCCATGAGGCACCAAAAACCAGGCTGGGCAGGGAACAGGGGTGGGGCAGACAGGGGCAGCGTGTGCCCGGGCTACAGACAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCGTGTGCCCAGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCATGTGCCCGGGTACAGGCAGGGATGAGGCCCCTCTCCTGGCCTTGCCCTCCCTCCTAAGGCTTTCTTGAAAGCCAGGGCCTCGCTGTGCTTGGACCCTCCCAGGATGGCCCCTGCCCCACAGGCAGGTCCCCAGGTCCTCTCGTCTCAGGCACCCCTGCCTCCTCCTGCCCTGGGCACGAGCACGCCTGTGTCCAGAACCAGGAGGGCTGCTGGGCCTGGGGGTTGCACCTGATTAGCAGCTCTGGGCTTCACTACTTGGATCGGGGGAAGGGGCCGGGGCAGGTCTAGCACCAACCTGTCCATCAGCCGGCCCTGCAGGAGGGTGGGGAGGAGGTTGAGGCCATCAATGGCCCTGTCGCTGGGCGGCGTCAGGCCCGCAAGGGCCAGGCTGGTGGTGAAGAGGTCCATGATGCTGCCCAGCTGGTGGCTCACCTGAAACACATGGCAGCAACACGGTCAGGGCACTCTGCACCGA
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Task1_train_23039
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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?
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Pathogenic; Morquio syndrome
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GCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTTCATGGAGGAAAGCCCCTTTTAACAGCCTACTCTCTGCTGGGGAAGGGAGGGGAGGGAAAGGGACGGGAAGGGAGGCCCTGCCCTGGGAGAAGGGAGAGCCACAACGCTCAGAATCCCTACAGAAACCCTAAGACAGGGAGGAGCAGGACCAACATGTGAAAGGCAAGAGAAAACACAGAAAACAAAAACAGACCCAGGGAGCTGACACAGATTCACACACTCAAGAAGGGCAAGGATTTTACAGTAACCACAATTCTCTTTCTGCTGCCCCTGGGCCTCCTGATTCGGGAAAGGCGAGGTATGCCTCTAACATTCCCAGAGCGGGTGCTGCAGGCCAAGGGGCTCGTCCGAGGACTGTGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGAACGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCACAGGCGGCAATGCCGGGGACCGATGCCCAGGATGGCCCTTGCAGGTGACAGTGCTGGGTAAAACCCGAAAGAAGAGCGGGTGCGGGGCCTGCACAGGGTGGGGAGGAGCCAAAACACTCCTGGGCATCATTGCCCTCCAGACACTGCCCCACGAGCAGCTTCCCTCCTCAGCCTGGGTGCTCAGCCCTCAGCCCCAGTTCTCACTTCCAGTCTTTAGACTCTCCATTACACTAAATGATTTTCTTCCCAATTAAGGCAGATTAGCAGGGGGTTCATATCTCAAGACTTTGATGCTGGGAGTGGGTGGGGCTGAGAGAGACCTCTCAGGAGGGGCTGGGGGATGCTGGAGCGTAGGGGTCAGCAGGGGCCAGAAAAGACCGTGGGGAGGGAGCAGGAGGCTTGAGGCGAGGGCTCGTGGGAGAAAGCCTGGCGCTGACAATGCTGGGGTAGCCTGGGGCGGCAGGAGCCCCAGGCCCTGTGCGTGTGGCGTTTCACCCTCCCACACTGGGGGTTGCTGTGGTGATGCCAATGCTGCGGCCCCCATGTAGCACCTGGGCCAAGCAGGCCACGTCTCTGTCGCCTCCAGCCTGGGGTGTGGGGGAGGCTCAGATGCCCTGGCAGGATGGAGAGGCCCATGGGGGCCACCTGACCAGGGTCTAGGCCACGCCTGTAGCTATGCCGCGGGGCTACTGTCATCACGCGGGGCAGGAAGAGGTCCCTCCCTCCTCTCCAGCCTGTCAGCTGCCATGCCCTAGGCCACGCTGAACGACTGGGGGCCACACAGAGAAGGCTGTGGAGGGGGTGGAGTTCCTGCCTGTCTCACCCTCCTGTGCCTCCCCCAGGACGGTGCTCAGGGGCCACGTCTGGATAGAGATGGGGGCAGCTCCGCCTGCGCCCACGTCCCGAGCCCTGTACCTGTCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCGCCATCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGGGCTGGGGTGACTGGGTATCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCGGCCGGGGCTGGGGTGACTGGGTGTTTGGGCGGCCGGGGCTGGGGTGACTGGGTGTCTAGGGTGCCTGGGTGTCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGTGGCCAGGGCTGGGGTGCCTGGGTGTTTGGGCAGCCGGGGCTGGGGTGCCTGGGTGGCCGGGGCGACTGGGTATCTGGGGTGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCAACCGGGGCTGGGGTGGCTGGGTGTCTGGGTGGCCGGGGCTGGGGTGACTGGGTGTCTGGGGTGCCTGGGTGTCTAGGGCTGGAGTGCCTGGGCGGCCAGGGCTGGGGTACCTGGGTGTCTGGGCGGCCGGGGCTGGGGTGCCTGGATGTCTGGGGCTGGGGTTTCTGGGCAGCCGGGGCTGGGGTGCCTGGGTGTCCGGGACTGGGATTCCTGGGCAGCTGGGGCTGGGGTGCCTGGGTGTCTGGGGTGCCTGGGCGGCCGGGGCTAGGGTGCCTGGGCGTCCCCTCATTGCTGGTCCTTGGCAAGGCTGGGCCAGACCCTGGGGAGGGTGGGCAGACAAGAGGATAAGCAGGCGGCACGGGGTCTCCTGACCATGTTGGGCCTGCGAGTCAGGAACGGGGAGTGGGGGACGCAGCTGGGCACCGTCTCTCCCCACAGTGACCAACCACTTGTGCCAGGTCTCGAGAGGGGACAAGTGAGCAAAACTCCCTCTACCCGGCCCCAGATAGCCGGAGGCGGCAGCTGCCTTGGGCCGTCCCCACCTTGCTTCCCGTTGAGCCTTTGGAATCCTCATCCCTTCAGGACCACCCAGGAAACGTGGTTTGAGTGGAATGGTGGCTGCTCTCAGGGGGTAGGAAATGGACTTTGGACACTAAGGATTTGGACAGAAGGTAAGAGCTGGGCCATGGACTTGGCAGAGCAGCGACTTGGATGGAAGGAAGAAGGAAGCTACAGGAAGCCATGAGGCACCAAAAACCAGGCTGGGCAGGGAACAGGGGTGGGGCAGACAGGGGCAGCGTGTGCCCGGGCTACAGACAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCGTGTGCCCAGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCATGTGCCCGGGTACAGGCAGGGATGAGGCCCCTCTCCTGGCCTTGCCCTCCCTCCTAAGGCTTTCTTGAAAGCCAGGGCCTCGCTGTGCTTGGACCCTCCCAGGATGGCCCCTGCCCCACAGGCAGGTCCCCAGGTCCTCTCGTCTCAGGCACCCCTGCCTCCTCCTGCCCTGGGCACGAGCACGCCTGTGTCCAGAACCAGGAGGGCTGCTGGGCCTGGGGGTTGCACCTGATTAGCAGCTCTGGGCTTCACTACTTGGATCGGGGGAAGGGGCCGGGGCAGGTCTAGCACCAACCTGTCCATCAGCCGGCCCTGCAGGAGGGTGGGGAGGAGGTTGAGGCCATCAATGGCCCTGTCGCTGGGCGGCGTCAGGCCCGCAAGGGCCAGGCTGGTGGTGAAGAGGTCCATGATGCTGCCCAGCTGGTGGCTCACCTGAAACACATGGCAGCAACACGGTCAGGGCACTCTGCACCGACCCG
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GCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTTCATGGAGGAAAGCCCCTTTTAACAGCCTACTCTCTGCTGGGGAAGGGAGGGGAGGGAAAGGGACGGGAAGGGAGGCCCTGCCCTGGGAGAAGGGAGAGCCACAACGCTCAGAATCCCTACAGAAACCCTAAGACAGGGAGGAGCAGGACCAACATGTGAAAGGCAAGAGAAAACACAGAAAACAAAAACAGACCCAGGGAGCTGACACAGATTCACACACTCAAGAAGGGCAAGGATTTTACAGTAACCACAATTCTCTTTCTGCTGCCCCTGGGCCTCCTGATTCGGGAAAGGCGAGGTATGCCTCTAACATTCCCAGAGCGGGTGCTGCAGGCCAAGGGGCTCGTCCGAGGACTGTGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGAACGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCACAGGCGGCAATGCCGGGGACCGATGCCCAGGATGGCCCTTGCAGGTGACAGTGCTGGGTAAAACCCGAAAGAAGAGCGGGTGCGGGGCCTGCACAGGGTGGGGAGGAGCCAAAACACTCCTGGGCATCATTGCCCTCCAGACACTGCCCCACGAGCAGCTTCCCTCCTCAGCCTGGGTGCTCAGCCCTCAGCCCCAGTTCTCACTTCCAGTCTTTAGACTCTCCATTACACTAAATGATTTTCTTCCCAATTAAGGCAGATTAGCAGGGGGTTCATATCTCAAGACTTTGATGCTGGGAGTGGGTGGGGCTGAGAGAGACCTCTCAGGAGGGGCTGGGGGATGCTGGAGCGTAGGGGTCAGCAGGGGCCAGAAAAGACCGTGGGGAGGGAGCAGGAGGCTTGAGGCGAGGGCTCGTGGGAGAAAGCCTGGCGCTGACAATGCTGGGGTAGCCTGGGGCGGCAGGAGCCCCAGGCCCTGTGCGTGTGGCGTTTCACCCTCCCACACTGGGGGTTGCTGTGGTGATGCCAATGCTGCGGCCCCCATGTAGCACCTGGGCCAAGCAGGCCACGTCTCTGTCGCCTCCAGCCTGGGGTGTGGGGGAGGCTCAGATGCCCTGGCAGGATGGAGAGGCCCATGGGGGCCACCTGACCAGGGTCTAGGCCACGCCTGTAGCTATGCCGCGGGGCTACTGTCATCACGCGGGGCAGGAAGAGGTCCCTCCCTCCTCTCCAGCCTGTCAGCTGCCATGCCCTAGGCCACGCTGAACGACTGGGGGCCACACAGAGAAGGCTGTGGAGGGGGTGGAGTTCCTGCCTGTCTCACCCTCCTGTGCCTCCCCCAGGACGGTGCTCAGGGGCCACGTCTGGATAGAGATGGGGGCAGCTCCGCCTGCGCCCACGTCCCGAGCCCTGTACCTGTCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCGCCACCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGGGCTGGGGTGACTGGGTATCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCGGCCGGGGCTGGGGTGACTGGGTGTTTGGGCGGCCGGGGCTGGGGTGACTGGGTGTCTAGGGTGCCTGGGTGTCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGTGGCCAGGGCTGGGGTGCCTGGGTGTTTGGGCAGCCGGGGCTGGGGTGCCTGGGTGGCCGGGGCGACTGGGTATCTGGGGTGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCAACCGGGGCTGGGGTGGCTGGGTGTCTGGGTGGCCGGGGCTGGGGTGACTGGGTGTCTGGGGTGCCTGGGTGTCTAGGGCTGGAGTGCCTGGGCGGCCAGGGCTGGGGTACCTGGGTGTCTGGGCGGCCGGGGCTGGGGTGCCTGGATGTCTGGGGCTGGGGTTTCTGGGCAGCCGGGGCTGGGGTGCCTGGGTGTCCGGGACTGGGATTCCTGGGCAGCTGGGGCTGGGGTGCCTGGGTGTCTGGGGTGCCTGGGCGGCCGGGGCTAGGGTGCCTGGGCGTCCCCTCATTGCTGGTCCTTGGCAAGGCTGGGCCAGACCCTGGGGAGGGTGGGCAGACAAGAGGATAAGCAGGCGGCACGGGGTCTCCTGACCATGTTGGGCCTGCGAGTCAGGAACGGGGAGTGGGGGACGCAGCTGGGCACCGTCTCTCCCCACAGTGACCAACCACTTGTGCCAGGTCTCGAGAGGGGACAAGTGAGCAAAACTCCCTCTACCCGGCCCCAGATAGCCGGAGGCGGCAGCTGCCTTGGGCCGTCCCCACCTTGCTTCCCGTTGAGCCTTTGGAATCCTCATCCCTTCAGGACCACCCAGGAAACGTGGTTTGAGTGGAATGGTGGCTGCTCTCAGGGGGTAGGAAATGGACTTTGGACACTAAGGATTTGGACAGAAGGTAAGAGCTGGGCCATGGACTTGGCAGAGCAGCGACTTGGATGGAAGGAAGAAGGAAGCTACAGGAAGCCATGAGGCACCAAAAACCAGGCTGGGCAGGGAACAGGGGTGGGGCAGACAGGGGCAGCGTGTGCCCGGGCTACAGACAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCGTGTGCCCAGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCATGTGCCCGGGTACAGGCAGGGATGAGGCCCCTCTCCTGGCCTTGCCCTCCCTCCTAAGGCTTTCTTGAAAGCCAGGGCCTCGCTGTGCTTGGACCCTCCCAGGATGGCCCCTGCCCCACAGGCAGGTCCCCAGGTCCTCTCGTCTCAGGCACCCCTGCCTCCTCCTGCCCTGGGCACGAGCACGCCTGTGTCCAGAACCAGGAGGGCTGCTGGGCCTGGGGGTTGCACCTGATTAGCAGCTCTGGGCTTCACTACTTGGATCGGGGGAAGGGGCCGGGGCAGGTCTAGCACCAACCTGTCCATCAGCCGGCCCTGCAGGAGGGTGGGGAGGAGGTTGAGGCCATCAATGGCCCTGTCGCTGGGCGGCGTCAGGCCCGCAAGGGCCAGGCTGGTGGTGAAGAGGTCCATGATGCTGCCCAGCTGGTGGCTCACCTGAAACACATGGCAGCAACACGGTCAGGGCACTCTGCACCGACCCG
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Task1_train_23040
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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.
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Pathogenic; Mucopolysaccharidosis, MPS-IV-A
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GCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTTCATGGAGGAAAGCCCCTTTTAACAGCCTACTCTCTGCTGGGGAAGGGAGGGGAGGGAAAGGGACGGGAAGGGAGGCCCTGCCCTGGGAGAAGGGAGAGCCACAACGCTCAGAATCCCTACAGAAACCCTAAGACAGGGAGGAGCAGGACCAACATGTGAAAGGCAAGAGAAAACACAGAAAACAAAAACAGACCCAGGGAGCTGACACAGATTCACACACTCAAGAAGGGCAAGGATTTTACAGTAACCACAATTCTCTTTCTGCTGCCCCTGGGCCTCCTGATTCGGGAAAGGCGAGGTATGCCTCTAACATTCCCAGAGCGGGTGCTGCAGGCCAAGGGGCTCGTCCGAGGACTGTGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGAACGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCACAGGCGGCAATGCCGGGGACCGATGCCCAGGATGGCCCTTGCAGGTGACAGTGCTGGGTAAAACCCGAAAGAAGAGCGGGTGCGGGGCCTGCACAGGGTGGGGAGGAGCCAAAACACTCCTGGGCATCATTGCCCTCCAGACACTGCCCCACGAGCAGCTTCCCTCCTCAGCCTGGGTGCTCAGCCCTCAGCCCCAGTTCTCACTTCCAGTCTTTAGACTCTCCATTACACTAAATGATTTTCTTCCCAATTAAGGCAGATTAGCAGGGGGTTCATATCTCAAGACTTTGATGCTGGGAGTGGGTGGGGCTGAGAGAGACCTCTCAGGAGGGGCTGGGGGATGCTGGAGCGTAGGGGTCAGCAGGGGCCAGAAAAGACCGTGGGGAGGGAGCAGGAGGCTTGAGGCGAGGGCTCGTGGGAGAAAGCCTGGCGCTGACAATGCTGGGGTAGCCTGGGGCGGCAGGAGCCCCAGGCCCTGTGCGTGTGGCGTTTCACCCTCCCACACTGGGGGTTGCTGTGGTGATGCCAATGCTGCGGCCCCCATGTAGCACCTGGGCCAAGCAGGCCACGTCTCTGTCGCCTCCAGCCTGGGGTGTGGGGGAGGCTCAGATGCCCTGGCAGGATGGAGAGGCCCATGGGGGCCACCTGACCAGGGTCTAGGCCACGCCTGTAGCTATGCCGCGGGGCTACTGTCATCACGCGGGGCAGGAAGAGGTCCCTCCCTCCTCTCCAGCCTGTCAGCTGCCATGCCCTAGGCCACGCTGAACGACTGGGGGCCACACAGAGAAGGCTGTGGAGGGGGTGGAGTTCCTGCCTGTCTCACCCTCCTGTGCCTCCCCCAGGACGGTGCTCAGGGGCCACGTCTGGATAGAGATGGGGGCAGCTCCGCCTGCGCCCACGTCCCGAGCCCTGTACCTGTCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCGCCATCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGGGCTGGGGTGACTGGGTATCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCGGCCGGGGCTGGGGTGACTGGGTGTTTGGGCGGCCGGGGCTGGGGTGACTGGGTGTCTAGGGTGCCTGGGTGTCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGTGGCCAGGGCTGGGGTGCCTGGGTGTTTGGGCAGCCGGGGCTGGGGTGCCTGGGTGGCCGGGGCGACTGGGTATCTGGGGTGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCAACCGGGGCTGGGGTGGCTGGGTGTCTGGGTGGCCGGGGCTGGGGTGACTGGGTGTCTGGGGTGCCTGGGTGTCTAGGGCTGGAGTGCCTGGGCGGCCAGGGCTGGGGTACCTGGGTGTCTGGGCGGCCGGGGCTGGGGTGCCTGGATGTCTGGGGCTGGGGTTTCTGGGCAGCCGGGGCTGGGGTGCCTGGGTGTCCGGGACTGGGATTCCTGGGCAGCTGGGGCTGGGGTGCCTGGGTGTCTGGGGTGCCTGGGCGGCCGGGGCTAGGGTGCCTGGGCGTCCCCTCATTGCTGGTCCTTGGCAAGGCTGGGCCAGACCCTGGGGAGGGTGGGCAGACAAGAGGATAAGCAGGCGGCACGGGGTCTCCTGACCATGTTGGGCCTGCGAGTCAGGAACGGGGAGTGGGGGACGCAGCTGGGCACCGTCTCTCCCCACAGTGACCAACCACTTGTGCCAGGTCTCGAGAGGGGACAAGTGAGCAAAACTCCCTCTACCCGGCCCCAGATAGCCGGAGGCGGCAGCTGCCTTGGGCCGTCCCCACCTTGCTTCCCGTTGAGCCTTTGGAATCCTCATCCCTTCAGGACCACCCAGGAAACGTGGTTTGAGTGGAATGGTGGCTGCTCTCAGGGGGTAGGAAATGGACTTTGGACACTAAGGATTTGGACAGAAGGTAAGAGCTGGGCCATGGACTTGGCAGAGCAGCGACTTGGATGGAAGGAAGAAGGAAGCTACAGGAAGCCATGAGGCACCAAAAACCAGGCTGGGCAGGGAACAGGGGTGGGGCAGACAGGGGCAGCGTGTGCCCGGGCTACAGACAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCGTGTGCCCAGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCATGTGCCCGGGTACAGGCAGGGATGAGGCCCCTCTCCTGGCCTTGCCCTCCCTCCTAAGGCTTTCTTGAAAGCCAGGGCCTCGCTGTGCTTGGACCCTCCCAGGATGGCCCCTGCCCCACAGGCAGGTCCCCAGGTCCTCTCGTCTCAGGCACCCCTGCCTCCTCCTGCCCTGGGCACGAGCACGCCTGTGTCCAGAACCAGGAGGGCTGCTGGGCCTGGGGGTTGCACCTGATTAGCAGCTCTGGGCTTCACTACTTGGATCGGGGGAAGGGGCCGGGGCAGGTCTAGCACCAACCTGTCCATCAGCCGGCCCTGCAGGAGGGTGGGGAGGAGGTTGAGGCCATCAATGGCCCTGTCGCTGGGCGGCGTCAGGCCCGCAAGGGCCAGGCTGGTGGTGAAGAGGTCCATGATGCTGCCCAGCTGGTGGCTCACCTGAAACACATGGCAGCAACACGGTCAGGGCACTCTGCACCGACCCG
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GCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTTCATGGAGGAAAGCCCCTTTTAACAGCCTACTCTCTGCTGGGGAAGGGAGGGGAGGGAAAGGGACGGGAAGGGAGGCCCTGCCCTGGGAGAAGGGAGAGCCACAACGCTCAGAATCCCTACAGAAACCCTAAGACAGGGAGGAGCAGGACCAACATGTGAAAGGCAAGAGAAAACACAGAAAACAAAAACAGACCCAGGGAGCTGACACAGATTCACACACTCAAGAAGGGCAAGGATTTTACAGTAACCACAATTCTCTTTCTGCTGCCCCTGGGCCTCCTGATTCGGGAAAGGCGAGGTATGCCTCTAACATTCCCAGAGCGGGTGCTGCAGGCCAAGGGGCTCGTCCGAGGACTGTGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGAACGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCACAGGCGGCAATGCCGGGGACCGATGCCCAGGATGGCCCTTGCAGGTGACAGTGCTGGGTAAAACCCGAAAGAAGAGCGGGTGCGGGGCCTGCACAGGGTGGGGAGGAGCCAAAACACTCCTGGGCATCATTGCCCTCCAGACACTGCCCCACGAGCAGCTTCCCTCCTCAGCCTGGGTGCTCAGCCCTCAGCCCCAGTTCTCACTTCCAGTCTTTAGACTCTCCATTACACTAAATGATTTTCTTCCCAATTAAGGCAGATTAGCAGGGGGTTCATATCTCAAGACTTTGATGCTGGGAGTGGGTGGGGCTGAGAGAGACCTCTCAGGAGGGGCTGGGGGATGCTGGAGCGTAGGGGTCAGCAGGGGCCAGAAAAGACCGTGGGGAGGGAGCAGGAGGCTTGAGGCGAGGGCTCGTGGGAGAAAGCCTGGCGCTGACAATGCTGGGGTAGCCTGGGGCGGCAGGAGCCCCAGGCCCTGTGCGTGTGGCGTTTCACCCTCCCACACTGGGGGTTGCTGTGGTGATGCCAATGCTGCGGCCCCCATGTAGCACCTGGGCCAAGCAGGCCACGTCTCTGTCGCCTCCAGCCTGGGGTGTGGGGGAGGCTCAGATGCCCTGGCAGGATGGAGAGGCCCATGGGGGCCACCTGACCAGGGTCTAGGCCACGCCTGTAGCTATGCCGCGGGGCTACTGTCATCACGCGGGGCAGGAAGAGGTCCCTCCCTCCTCTCCAGCCTGTCAGCTGCCATGCCCTAGGCCACGCTGAACGACTGGGGGCCACACAGAGAAGGCTGTGGAGGGGGTGGAGTTCCTGCCTGTCTCACCCTCCTGTGCCTCCCCCAGGACGGTGCTCAGGGGCCACGTCTGGATAGAGATGGGGGCAGCTCCGCCTGCGCCCACGTCCCGAGCCCTGTACCTGTCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCGCCACCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGGGCTGGGGTGACTGGGTATCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCGGCCGGGGCTGGGGTGACTGGGTGTTTGGGCGGCCGGGGCTGGGGTGACTGGGTGTCTAGGGTGCCTGGGTGTCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGTGGCCAGGGCTGGGGTGCCTGGGTGTTTGGGCAGCCGGGGCTGGGGTGCCTGGGTGGCCGGGGCGACTGGGTATCTGGGGTGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCAACCGGGGCTGGGGTGGCTGGGTGTCTGGGTGGCCGGGGCTGGGGTGACTGGGTGTCTGGGGTGCCTGGGTGTCTAGGGCTGGAGTGCCTGGGCGGCCAGGGCTGGGGTACCTGGGTGTCTGGGCGGCCGGGGCTGGGGTGCCTGGATGTCTGGGGCTGGGGTTTCTGGGCAGCCGGGGCTGGGGTGCCTGGGTGTCCGGGACTGGGATTCCTGGGCAGCTGGGGCTGGGGTGCCTGGGTGTCTGGGGTGCCTGGGCGGCCGGGGCTAGGGTGCCTGGGCGTCCCCTCATTGCTGGTCCTTGGCAAGGCTGGGCCAGACCCTGGGGAGGGTGGGCAGACAAGAGGATAAGCAGGCGGCACGGGGTCTCCTGACCATGTTGGGCCTGCGAGTCAGGAACGGGGAGTGGGGGACGCAGCTGGGCACCGTCTCTCCCCACAGTGACCAACCACTTGTGCCAGGTCTCGAGAGGGGACAAGTGAGCAAAACTCCCTCTACCCGGCCCCAGATAGCCGGAGGCGGCAGCTGCCTTGGGCCGTCCCCACCTTGCTTCCCGTTGAGCCTTTGGAATCCTCATCCCTTCAGGACCACCCAGGAAACGTGGTTTGAGTGGAATGGTGGCTGCTCTCAGGGGGTAGGAAATGGACTTTGGACACTAAGGATTTGGACAGAAGGTAAGAGCTGGGCCATGGACTTGGCAGAGCAGCGACTTGGATGGAAGGAAGAAGGAAGCTACAGGAAGCCATGAGGCACCAAAAACCAGGCTGGGCAGGGAACAGGGGTGGGGCAGACAGGGGCAGCGTGTGCCCGGGCTACAGACAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCGTGTGCCCAGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCATGTGCCCGGGTACAGGCAGGGATGAGGCCCCTCTCCTGGCCTTGCCCTCCCTCCTAAGGCTTTCTTGAAAGCCAGGGCCTCGCTGTGCTTGGACCCTCCCAGGATGGCCCCTGCCCCACAGGCAGGTCCCCAGGTCCTCTCGTCTCAGGCACCCCTGCCTCCTCCTGCCCTGGGCACGAGCACGCCTGTGTCCAGAACCAGGAGGGCTGCTGGGCCTGGGGGTTGCACCTGATTAGCAGCTCTGGGCTTCACTACTTGGATCGGGGGAAGGGGCCGGGGCAGGTCTAGCACCAACCTGTCCATCAGCCGGCCCTGCAGGAGGGTGGGGAGGAGGTTGAGGCCATCAATGGCCCTGTCGCTGGGCGGCGTCAGGCCCGCAAGGGCCAGGCTGGTGGTGAAGAGGTCCATGATGCTGCCCAGCTGGTGGCTCACCTGAAACACATGGCAGCAACACGGTCAGGGCACTCTGCACCGACCCG
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Task1_train_23041
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Gene GALNS (galactosamine (N-acetyl)-6-sulfatase), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Mucopolysaccharidosis, MPS-IV-A
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TCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCGCCATCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGGGCTGGGGTGACTGGGTATCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCGGCCGGGGCTGGGGTGACTGGGTGTTTGGGCGGCCGGGGCTGGGGTGACTGGGTGTCTAGGGTGCCTGGGTGTCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGTGGCCAGGGCTGGGGTGCCTGGGTGTTTGGGCAGCCGGGGCTGGGGTGCCTGGGTGGCCGGGGCGACTGGGTATCTGGGGTGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCAACCGGGGCTGGGGTGGCTGGGTGTCTGGGTGGCCGGGGCTGGGGTGACTGGGTGTCTGGGGTGCCTGGGTGTCTAGGGCTGGAGTGCCTGGGCGGCCAGGGCTGGGGTACCTGGGTGTCTGGGCGGCCGGGGCTGGGGTGCCTGGATGTCTGGGGCTGGGGTTTCTGGGCAGCCGGGGCTGGGGTGCCTGGGTGTCCGGGACTGGGATTCCTGGGCAGCTGGGGCTGGGGTGCCTGGGTGTCTGGGGTGCCTGGGCGGCCGGGGCTAGGGTGCCTGGGCGTCCCCTCATTGCTGGTCCTTGGCAAGGCTGGGCCAGACCCTGGGGAGGGTGGGCAGACAAGAGGATAAGCAGGCGGCACGGGGTCTCCTGACCATGTTGGGCCTGCGAGTCAGGAACGGGGAGTGGGGGACGCAGCTGGGCACCGTCTCTCCCCACAGTGACCAACCACTTGTGCCAGGTCTCGAGAGGGGACAAGTGAGCAAAACTCCCTCTACCCGGCCCCAGATAGCCGGAGGCGGCAGCTGCCTTGGGCCGTCCCCACCTTGCTTCCCGTTGAGCCTTTGGAATCCTCATCCCTTCAGGACCACCCAGGAAACGTGGTTTGAGTGGAATGGTGGCTGCTCTCAGGGGGTAGGAAATGGACTTTGGACACTAAGGATTTGGACAGAAGGTAAGAGCTGGGCCATGGACTTGGCAGAGCAGCGACTTGGATGGAAGGAAGAAGGAAGCTACAGGAAGCCATGAGGCACCAAAAACCAGGCTGGGCAGGGAACAGGGGTGGGGCAGACAGGGGCAGCGTGTGCCCGGGCTACAGACAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCGTGTGCCCAGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCATGTGCCCGGGTACAGGCAGGGATGAGGCCCCTCTCCTGGCCTTGCCCTCCCTCCTAAGGCTTTCTTGAAAGCCAGGGCCTCGCTGTGCTTGGACCCTCCCAGGATGGCCCCTGCCCCACAGGCAGGTCCCCAGGTCCTCTCGTCTCAGGCACCCCTGCCTCCTCCTGCCCTGGGCACGAGCACGCCTGTGTCCAGAACCAGGAGGGCTGCTGGGCCTGGGGGTTGCACCTGATTAGCAGCTCTGGGCTTCACTACTTGGATCGGGGGAAGGGGCCGGGGCAGGTCTAGCACCAACCTGTCCATCAGCCGGCCCTGCAGGAGGGTGGGGAGGAGGTTGAGGCCATCAATGGCCCTGTCGCTGGGCGGCGTCAGGCCCGCAAGGGCCAGGCTGGTGGTGAAGAGGTCCATGATGCTGCCCAGCTGGTGGCTCACCTGAAACACATGGCAGCAACACGGTCAGGGCACTCTGCACCGACCCGATGGGGCTGGGGGCCAATCCCTGGGGGGGCGTGAGCCCCGCTGCCCAGCTGGGTCTACAGATATGCATACATGCTCACACGCCCACAGCAGGGACTGAGCGGGGTCACAAGGCCTGTGAGAGACAGAGGAGCCTCAAACCAGGCCCAAAGACCCCAGAGCCAGGCCACGCCCTCACTCCCTGGCACCCTTCTCTGCCTCTGTGGATCAGATGAAAGGAGAATCACAGCCCTCCCAGGGAGATGCCCCTCCAGGCCCACCTGTCCGGAGAGGATCAGCCTCGCTCTAACACTGAATGCCCTAAGGCCACTGTGAGCCCTGCCCCTTAAGTCAGAGGAGCAGGTGGAGAAAAACCAGATGTGGAGGGGCAGCTGAGGCTGGACAGGAGCAGCTCCGAGTGGCTGGGGTGGGGACGGCTCCTGACACACCCAGAGAGCTCCAGGACAGGCAGGAGGCTGTCTTTCCCGCCGTGCCTTGACCTCCGGAGGGCGTGGGCACTGCTGACCAGCCATGAGCAGAGCGTGCCATCTGGCTTCCCTCAGTGGCCCTGTCTGCTTCTTGTTTTTTGTTTTTGTTTTTTGAGATGGAGTTTTGTTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCACAACCTCTGCCTTCCAGGTTCAAGTGATTCTCCTGACTCAGTCTCCCGAGAAGCTGGGATTACAGGTATGTGTCACTACGCCCGGCTAATTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCCGGCGGCCCTGTCTCTTTCTTAACTCGGGGGCTCCAGGCTTGGGTCACTCGACGGGGAGACTGGGGTGGGGCTGGAGAGACACCCCTGCCTGGCAAGCTCAGCCCCTGGGGCAGCTGGGCAGGGACCGCCATCCGCTGCCAGGCCCTGGAGCTCCCACCCAGTGTCGACAGCCCTCCCCACGGTCCAGGGGCACCCTCGCCGCCTGCAGCCAGCTCCTCGCTAGGGCAGACGGCGATCGCCAGCTTCTCCAACAGAGGAGCCCTGGCCTCACAGGGACACTCACTCCGCGCTGCAGCCGCTCACGGGATGTGGGGTCTGCAGCGCCCAGTGTGGGGCAGGGAATGCAAAGCTCAGCGTTTGCCAGGAAAGTTCAGGAAGCTTTGCAGAAGGTGAGAAGCTTCCCCAGGTCTGGTCAGCAGTGTCTGTGCGACTGCTTCCCGTCCTTCCCGTGTCCTTTAAAGGACAGAATAATAAAGGAAAGAAATCCAGATGCTTTTGTCATCTGAAAAAATAACTGCGGAGCAGTGCTTGTGGTGCCGGCAGGGCGGGCGGGCGGGAGTGGTGTCAGCACAGGCAGGGTCCTCGTGGAGCGTTTTCGAAGAACTCTCCAGGCAGCGATGCCTTCCAGAAACATCCAGAAATGCAGTGGGCAGCTGCGGCTGTGGGAGAAGTCACTGAAACCGTTATCAGCGCTTTCGAGACTTCACTCAGAATCCAGGGCTGCAGGGACTAAAGCCTCCCCTGCCCAGAGGGAACTGTCGGGACAGACGTCAGGCGCTTTCACTGAAACCCCGTCGTGGTGTCCTGGTGCACAGGCCTGATGCCATCGAATTCAATTTCACTTTGTGGCCCACGGGAAAAGGCAACTTGGTGGCTCTGGGAAGAGGGTTTCCCTTCCTCAGGTGGGGAGAGGGTTTCCCTTCTTCAGGGAGCGAGGCAGATGGCAAGGTTCCAAAACGCTGAAATTGGCATTTTTCTCAGCTGGAGCCTTTCCGTGGGCAGGTGGGTGGGGAGGTCTGTGGGGTACAGACGTCCCTGAACCCACTACGCATGGAGCCGGGCGGCGCTGGGGTGGCTCCCCTCACCTTTTCCAGGCTGCTGCTGAGCACAGCCACGGGTGGCTCCCAGCCTG
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TCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCGCCATCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGGGCTGGGGTGACTGGGTATCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCGGCCGGGGCTGGGGTGACTGGGTGTTTGGGCGGCCGGGGCTGGGGTGACTGGGTGTCTAGGGTGCCTGGGTGTCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGTGGCCAGGGCTGGGGTGCCTGGGTGTTTGGGCAGCCGGGGCTGGGGTGCCTGGGTGGCCGGGGCGACTGGGTATCTGGGGTGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCAACCGGGGCTGGGGTGGCTGGGTGTCTGGGTGGCCGGGGCTGGGGTGACTGGGTGTCTGGGGTGCCTGGGTGTCTAGGGCTGGAGTGCCTGGGCGGCCAGGGCTGGGGTACCTGGGTGTCTGGGCGGCCGGGGCTGGGGTGCCTGGATGTCTGGGGCTGGGGTTTCTGGGCAGCCGGGGCTGGGGTGCCTGGGTGTCCGGGACTGGGATTCCTGGGCAGCTGGGGCTGGGGTGCCTGGGTGTCTGGGGTGCCTGGGCGGCCGGGGCTAGGGTGCCTGGGCGTCCCCTCATTGCTGGTCCTTGGCAAGGCTGGGCCAGACCCTGGGGAGGGTGGGCAGACAAGAGGATAAGCAGGCGGCACGGGGTCTCCTGACCATGTTGGGCCTGCGAGTCAGGAACGGGGAGTGGGGGACGCAGCTGGGCACCGTCTCTCCCCACAGTGACCAACCACTTGTGCCAGGTCTCGAGAGGGGACAAGTGAGCAAAACTCCCTCTACCCGGCCCCAGATAGCCGGAGGCGGCAGCTGCCTTGGGCCGTCCCCACCTTGCTTCCCGTTGAGCCTTTGGAATCCTCATCCCTTCAGGACCACCCAGGAAACGTGGTTTGAGTGGAATGGTGGCTGCTCTCAGGGGGTAGGAAATGGACTTTGGACACTAAGGATTTGGACAGAAGGTAAGAGCTGGGCCATGGACTTGGCAGAGCAGCGACTTGGATGGAAGGAAGAAGGAAGCTACAGGAAGCCATGAGGCACCAAAAACCAGGCTGGGCAGGGAACAGGGGTGGGGCAGACAGGGGCAGCGTGTGCCCGGGCTACAGACAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCGTGTGCCCAGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCATGTGCCCGGGTACAGGCAGGGATGAGGCCCCTCTCCTGGCCTTGCCCTCCCTCCTAAGGCTTTCTTGAAAGCCAGGGCCTCGCTGTGCTTGGACCCTCCCAGGATGGCCCCTGCCCCACAGGCAGGTCCCCAGGTCCTCTCGTCTCAGGCACCCCTGCCTCCTCCTGCCCTGGGCACGAGCACGCCTGTGTCCAGAACCAGGAGGGCTGCTGGGCCTGGGGGTTGCACCTGATTAGCAGCTCTGGGCTTCACTACTTGGATCGGGGGAAGGGGCCGGGGCAGGTCTAGCACCAACCTGTCCATCAGCCGGCCCTGCAGGAGGGTGGGGAGGAGGTTGAGGCCATCAATGGCCCTGTCGCTGGGCGGCGTCAGGCCCGCAAGGGCCAGGCTGGTGGTGAAGAGGTCCATGATTCTGCCCAGCTGGTGGCTCACCTGAAACACATGGCAGCAACACGGTCAGGGCACTCTGCACCGACCCGATGGGGCTGGGGGCCAATCCCTGGGGGGGCGTGAGCCCCGCTGCCCAGCTGGGTCTACAGATATGCATACATGCTCACACGCCCACAGCAGGGACTGAGCGGGGTCACAAGGCCTGTGAGAGACAGAGGAGCCTCAAACCAGGCCCAAAGACCCCAGAGCCAGGCCACGCCCTCACTCCCTGGCACCCTTCTCTGCCTCTGTGGATCAGATGAAAGGAGAATCACAGCCCTCCCAGGGAGATGCCCCTCCAGGCCCACCTGTCCGGAGAGGATCAGCCTCGCTCTAACACTGAATGCCCTAAGGCCACTGTGAGCCCTGCCCCTTAAGTCAGAGGAGCAGGTGGAGAAAAACCAGATGTGGAGGGGCAGCTGAGGCTGGACAGGAGCAGCTCCGAGTGGCTGGGGTGGGGACGGCTCCTGACACACCCAGAGAGCTCCAGGACAGGCAGGAGGCTGTCTTTCCCGCCGTGCCTTGACCTCCGGAGGGCGTGGGCACTGCTGACCAGCCATGAGCAGAGCGTGCCATCTGGCTTCCCTCAGTGGCCCTGTCTGCTTCTTGTTTTTTGTTTTTGTTTTTTGAGATGGAGTTTTGTTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCACAACCTCTGCCTTCCAGGTTCAAGTGATTCTCCTGACTCAGTCTCCCGAGAAGCTGGGATTACAGGTATGTGTCACTACGCCCGGCTAATTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCCGGCGGCCCTGTCTCTTTCTTAACTCGGGGGCTCCAGGCTTGGGTCACTCGACGGGGAGACTGGGGTGGGGCTGGAGAGACACCCCTGCCTGGCAAGCTCAGCCCCTGGGGCAGCTGGGCAGGGACCGCCATCCGCTGCCAGGCCCTGGAGCTCCCACCCAGTGTCGACAGCCCTCCCCACGGTCCAGGGGCACCCTCGCCGCCTGCAGCCAGCTCCTCGCTAGGGCAGACGGCGATCGCCAGCTTCTCCAACAGAGGAGCCCTGGCCTCACAGGGACACTCACTCCGCGCTGCAGCCGCTCACGGGATGTGGGGTCTGCAGCGCCCAGTGTGGGGCAGGGAATGCAAAGCTCAGCGTTTGCCAGGAAAGTTCAGGAAGCTTTGCAGAAGGTGAGAAGCTTCCCCAGGTCTGGTCAGCAGTGTCTGTGCGACTGCTTCCCGTCCTTCCCGTGTCCTTTAAAGGACAGAATAATAAAGGAAAGAAATCCAGATGCTTTTGTCATCTGAAAAAATAACTGCGGAGCAGTGCTTGTGGTGCCGGCAGGGCGGGCGGGCGGGAGTGGTGTCAGCACAGGCAGGGTCCTCGTGGAGCGTTTTCGAAGAACTCTCCAGGCAGCGATGCCTTCCAGAAACATCCAGAAATGCAGTGGGCAGCTGCGGCTGTGGGAGAAGTCACTGAAACCGTTATCAGCGCTTTCGAGACTTCACTCAGAATCCAGGGCTGCAGGGACTAAAGCCTCCCCTGCCCAGAGGGAACTGTCGGGACAGACGTCAGGCGCTTTCACTGAAACCCCGTCGTGGTGTCCTGGTGCACAGGCCTGATGCCATCGAATTCAATTTCACTTTGTGGCCCACGGGAAAAGGCAACTTGGTGGCTCTGGGAAGAGGGTTTCCCTTCCTCAGGTGGGGAGAGGGTTTCCCTTCTTCAGGGAGCGAGGCAGATGGCAAGGTTCCAAAACGCTGAAATTGGCATTTTTCTCAGCTGGAGCCTTTCCGTGGGCAGGTGGGTGGGGAGGTCTGTGGGGTACAGACGTCCCTGAACCCACTACGCATGGAGCCGGGCGGCGCTGGGGTGGCTCCCCTCACCTTTTCCAGGCTGCTGCTGAGCACAGCCACGGGTGGCTCCCAGCCTG
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Task1_train_23042
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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.
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Pathogenic; Inborn genetic diseases
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GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCATCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTG
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GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCCTCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTG
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Task1_train_23043
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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.
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Pathogenic; Morquio syndrome
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GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCATCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTG
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GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCCTCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTG
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Task1_train_23044
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This gene mutation involves GALNS (galactosamine (N-acetyl)-6-sulfatase) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Mucopolysaccharidosis, MPS-IV-A
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GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCATCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTG
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GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCCTCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTG
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Task1_train_23045
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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?
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Pathogenic; Mucopolysaccharidosis, MPS-IV-A
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AGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCATCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGG
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AGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCACCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGG
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Task1_train_23046
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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.
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Pathogenic; Mucopolysaccharidosis, MPS-IV-A
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TGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCATCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGGGTCTGACTCCAGTGGGCGGGAGATGGAGCTGTCCGGAGGGCCTGCACGAGA
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TGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCATCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCAACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGGGTCTGACTCCAGTGGGCGGGAGATGGAGCTGTCCGGAGGGCCTGCACGAGA
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Task1_train_23047
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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.
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Pathogenic; Morquio syndrome
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TGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCATCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGGGTCTGACTCCAGTGGGCGGGAGATGGAGCTGTCCGGAGGGCCTGCACGAGA
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TGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCATCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCAACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGGGTCTGACTCCAGTGGGCGGGAGATGGAGCTGTCCGGAGGGCCTGCACGAGA
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Task1_train_23048
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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.
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Pathogenic; Morquio syndrome
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AAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGGGTCTGACTCCAGTGGGCGGGAGATGGAGCTGTCCGGAGGGCCTGCACGAGAGCCAGGCTCACCCAGGGGAGCTATCTGGTGGGACGTGGCGCGAGGGAGCCTATGCTTCTGTTTTGGCTTTCAGCTGTGCTGGTTTCTATCACTTGAAACTCTGAAGCCCCCAATCCCCGCAGCACACTGGGCTGTAGGCGCCCCCCGACATGGTCTGGGACGAGGCTGTAGGGCTCTCCCCACCACGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCTCTCCCCACCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCGGGTTCAGGTTTGTTGGCGCTGGGGATGGGTCAGGCATTCATCAGTGCCGAGCGGGGGAAAGGCTGAAGCTCCATCCCAGGAACCACTTGACAGGGCTGTGGTGGGGGCAGGAGTCCATCTTCATGGAGGCAGCCCGGCCCCTGGGTGACCAGGTCCAGGCCACACTCACAGGGCTGCTCGGGGTCTGGGGTGCCGGCCCCCACCTCAGCAGGGACACCCTGCTCCACCGGCCCTGCTGTTTCCATGCGGCCTCCAAAGCCTCCGGCCTCCGGGGTCACCCTTCGGGAGGCGTCAGCCTCTTCCAAGACAAACCCTCTCCCCTGTGTCACCTCCTCCCCACCCCCAAGTTCAAGGTCACTCCTGCTTCCAGGTTAGTCCTGGGCCAGAAGGGCCTTGCTCGAGGCTCGGTGACATCTGCTCCTCCCGCTGGACCCAGAGGGACCCTTCATGCTCTGCCCACCACAGACCCCGTGGGCACAGCCGGTCCAGGCACTCTTCGCTGACACGCTGGCTGTGGGGAAACCGTGAGAAGTGACAGCGAGCACTCACCTTGTTCGGGGGCGGAAATGAGGGCAGCGCCGTTGTCCGACGTGAAGAAGACGAAGGTGTTGTCCGCGACGTGCAGGTCTTGGAGGAGCTCCAGTATCTTCCCAATGCTGTCATCAATCTCCCGGACGGCGTCTCCATACCTGCAGGATGGTGACAAAAGGCATCTCCATACCTGGAGGATGGTGACAAATGGATCAGGCAGCCAACGGCATACTGTGATTCACGGAGTTCATTAAATCATAACTTCACAGACCACAGTGAAACTGGCCGGCCTCTTCCCAGAAGAGGAATGGCCTCAGTTCAAGTTCATGTGGCTTATGAAGGACAGAGCCAGCACCCCCACCACAGCCCTCCTCTGCTGATCCCAGGCCAGTGGACGGCTTCAAAGGGGTGGGGTTGCTCTGGCCTTTCCATAATTGGCCTAAATGCCACGGTACTGAGTGTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACAGGGCGAGGATGGTGCGGTCCCCATCACCTGCAGGTAGATCTGGGTGAGGTTGGCTTCCCCCGTCTTCAGATTAATAGGAAATTCTTCATAATATCTGAAAAGAACACAGATCCAGACAGACTTCAGAATTTAGGCCAAGAAAGTCCCGTTCTCCCTGATTTCACCAGCAAAGCCATGGGCTTCATTTAAAAGAAGGCTAGGGCTGGGCGTCATGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGAAGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCACCCTGGGTGACAGAGCAAGATCCTGTCTCAAGAAAAAAAAAAAAAAGGAAGCCTGGAAATGAAATGTCCACTCAGGGAACAACCAAGCTGGACGCATCCCTCGCTCCCCCAGGGCACGGTCTTGCATCTGATGACCTGGCTGAGGCCGGTGCTGCAATAACCTGCCACATGGGAAGATGGGGGAATGGGGCTGAGGGCACGACACCAAGGTGAAGGCAGTGAGGCGGCTGTGGTCACTCGGCTGGGGCTGGGGAGCCGCCGCTCAGGCCATGGGGCTCGTTCTGAAGCAGCTACAGTGCTGGTTGTCCCAGCCTGTGACTAATGCCAACCACAGAACTGCACACTTCAAATGGGGGCTGCGTGGTGCGACTCCCACACCTCCACGGGGCTCTATCTAGAAAGAGGCAGCAAGCTGGTGCTGCTTCTGGTCACCGTCATGTAATGAATGAGCACTTCCGCCAAGAAGAGTCAAGTTAAGCAAAATAAAATTCACAAAAGATGAGGGTCCCGGACCCGGCACTGCCGTGTCAAGAGGTGCTGCCCCCACGCCCGGGCACCAGGACGGCTCTGTCTGGACAGCGGCTTTTGCTCCTGGTGTGGCTCCCAGTGGGGGTTTCATCCCACCTCCTGTCCTGCCCATGTCCCTGGATGTCTGGAGCACAGCCGGCCTCCCC
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AAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGGGTCTGACTCCAGTGGGCGGGAGATGGAGCTGTCCGGAGGGCCTGCACGAGAGCCAGGCTCACCCAGGGGAGCTATCTGGTGGGACGTGGCGCGAGGGAGCCTATGCTTCTGTTTTGGCTTTCAGCTGTGCTGGTTTCTATCACTTGAAACTCTGAAGCCCCCAATCCCCGCAGCACACTGGGCTGTAGGCGCCCCCCGACATGGTCTGGGACGAGGCTGTAGGGCTCTCCCCACCACGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCTCTCCCCACCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCGGGTTCAGGTTTGTTGGCGCTGGGGATGGGTCAGGCATTCATCAGTGCCGAGCGGGGGAAAGGCTGAAGCTCCATCCCAGGAACCACTTGACAGGGCTGTGGTGGGGGCAGGAGTCCATCTTCATGGAGGCAGCCCGGCCCCTGGGTGACCAGGTCCAGGCCACACTCACAGGGCTGCTCGGGGTCTGGGGTGCCGGCCCCCACCTCAGCAGGGACACCCTGCTCCACCGGCCCTGCTGTTTCCATGCGGCCTCCAAAGCCTCCGGCCTCCGGGGTCACCCTTCGGGAGGCGTCAGCCTCTTCCAAGACAAACCCTCTCCCCTGTGTCACCTCCTCCCCACCCCCAAGTTCAAGGTCACTCCTGCTTCCAGGTTAGTCCTGGGCCAGAAGGGCCTTGCTCGAGGCTCGGTGACATCTGCTCCTCCCGCTGGACCCAGAGGGACCCTTCATGCTCTGCCCACCACAGACCCCGTGGGCACAGCCGGTCCAGGCACTCTTCGCTGACACGCTGGCTGTGGGGAAACCGTGAGAAGTGACAGCGAGCACTCACCTTGTTCGGGGGCGGAAATGAGGGCAGCGCCGTTGTCCAACGTGAAGAAGACGAAGGTGTTGTCCGCGACGTGCAGGTCTTGGAGGAGCTCCAGTATCTTCCCAATGCTGTCATCAATCTCCCGGACGGCGTCTCCATACCTGCAGGATGGTGACAAAAGGCATCTCCATACCTGGAGGATGGTGACAAATGGATCAGGCAGCCAACGGCATACTGTGATTCACGGAGTTCATTAAATCATAACTTCACAGACCACAGTGAAACTGGCCGGCCTCTTCCCAGAAGAGGAATGGCCTCAGTTCAAGTTCATGTGGCTTATGAAGGACAGAGCCAGCACCCCCACCACAGCCCTCCTCTGCTGATCCCAGGCCAGTGGACGGCTTCAAAGGGGTGGGGTTGCTCTGGCCTTTCCATAATTGGCCTAAATGCCACGGTACTGAGTGTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACAGGGCGAGGATGGTGCGGTCCCCATCACCTGCAGGTAGATCTGGGTGAGGTTGGCTTCCCCCGTCTTCAGATTAATAGGAAATTCTTCATAATATCTGAAAAGAACACAGATCCAGACAGACTTCAGAATTTAGGCCAAGAAAGTCCCGTTCTCCCTGATTTCACCAGCAAAGCCATGGGCTTCATTTAAAAGAAGGCTAGGGCTGGGCGTCATGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGAAGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCACCCTGGGTGACAGAGCAAGATCCTGTCTCAAGAAAAAAAAAAAAAAGGAAGCCTGGAAATGAAATGTCCACTCAGGGAACAACCAAGCTGGACGCATCCCTCGCTCCCCCAGGGCACGGTCTTGCATCTGATGACCTGGCTGAGGCCGGTGCTGCAATAACCTGCCACATGGGAAGATGGGGGAATGGGGCTGAGGGCACGACACCAAGGTGAAGGCAGTGAGGCGGCTGTGGTCACTCGGCTGGGGCTGGGGAGCCGCCGCTCAGGCCATGGGGCTCGTTCTGAAGCAGCTACAGTGCTGGTTGTCCCAGCCTGTGACTAATGCCAACCACAGAACTGCACACTTCAAATGGGGGCTGCGTGGTGCGACTCCCACACCTCCACGGGGCTCTATCTAGAAAGAGGCAGCAAGCTGGTGCTGCTTCTGGTCACCGTCATGTAATGAATGAGCACTTCCGCCAAGAAGAGTCAAGTTAAGCAAAATAAAATTCACAAAAGATGAGGGTCCCGGACCCGGCACTGCCGTGTCAAGAGGTGCTGCCCCCACGCCCGGGCACCAGGACGGCTCTGTCTGGACAGCGGCTTTTGCTCCTGGTGTGGCTCCCAGTGGGGGTTTCATCCCACCTCCTGTCCTGCCCATGTCCCTGGATGTCTGGAGCACAGCCGGCCTCCCC
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Task1_train_23049
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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?
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Pathogenic; Mucopolysaccharidosis, MPS-IV-A
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AAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGGGTCTGACTCCAGTGGGCGGGAGATGGAGCTGTCCGGAGGGCCTGCACGAGAGCCAGGCTCACCCAGGGGAGCTATCTGGTGGGACGTGGCGCGAGGGAGCCTATGCTTCTGTTTTGGCTTTCAGCTGTGCTGGTTTCTATCACTTGAAACTCTGAAGCCCCCAATCCCCGCAGCACACTGGGCTGTAGGCGCCCCCCGACATGGTCTGGGACGAGGCTGTAGGGCTCTCCCCACCACGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCTCTCCCCACCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCGGGTTCAGGTTTGTTGGCGCTGGGGATGGGTCAGGCATTCATCAGTGCCGAGCGGGGGAAAGGCTGAAGCTCCATCCCAGGAACCACTTGACAGGGCTGTGGTGGGGGCAGGAGTCCATCTTCATGGAGGCAGCCCGGCCCCTGGGTGACCAGGTCCAGGCCACACTCACAGGGCTGCTCGGGGTCTGGGGTGCCGGCCCCCACCTCAGCAGGGACACCCTGCTCCACCGGCCCTGCTGTTTCCATGCGGCCTCCAAAGCCTCCGGCCTCCGGGGTCACCCTTCGGGAGGCGTCAGCCTCTTCCAAGACAAACCCTCTCCCCTGTGTCACCTCCTCCCCACCCCCAAGTTCAAGGTCACTCCTGCTTCCAGGTTAGTCCTGGGCCAGAAGGGCCTTGCTCGAGGCTCGGTGACATCTGCTCCTCCCGCTGGACCCAGAGGGACCCTTCATGCTCTGCCCACCACAGACCCCGTGGGCACAGCCGGTCCAGGCACTCTTCGCTGACACGCTGGCTGTGGGGAAACCGTGAGAAGTGACAGCGAGCACTCACCTTGTTCGGGGGCGGAAATGAGGGCAGCGCCGTTGTCCGACGTGAAGAAGACGAAGGTGTTGTCCGCGACGTGCAGGTCTTGGAGGAGCTCCAGTATCTTCCCAATGCTGTCATCAATCTCCCGGACGGCGTCTCCATACCTGCAGGATGGTGACAAAAGGCATCTCCATACCTGGAGGATGGTGACAAATGGATCAGGCAGCCAACGGCATACTGTGATTCACGGAGTTCATTAAATCATAACTTCACAGACCACAGTGAAACTGGCCGGCCTCTTCCCAGAAGAGGAATGGCCTCAGTTCAAGTTCATGTGGCTTATGAAGGACAGAGCCAGCACCCCCACCACAGCCCTCCTCTGCTGATCCCAGGCCAGTGGACGGCTTCAAAGGGGTGGGGTTGCTCTGGCCTTTCCATAATTGGCCTAAATGCCACGGTACTGAGTGTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACAGGGCGAGGATGGTGCGGTCCCCATCACCTGCAGGTAGATCTGGGTGAGGTTGGCTTCCCCCGTCTTCAGATTAATAGGAAATTCTTCATAATATCTGAAAAGAACACAGATCCAGACAGACTTCAGAATTTAGGCCAAGAAAGTCCCGTTCTCCCTGATTTCACCAGCAAAGCCATGGGCTTCATTTAAAAGAAGGCTAGGGCTGGGCGTCATGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGAAGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCACCCTGGGTGACAGAGCAAGATCCTGTCTCAAGAAAAAAAAAAAAAAGGAAGCCTGGAAATGAAATGTCCACTCAGGGAACAACCAAGCTGGACGCATCCCTCGCTCCCCCAGGGCACGGTCTTGCATCTGATGACCTGGCTGAGGCCGGTGCTGCAATAACCTGCCACATGGGAAGATGGGGGAATGGGGCTGAGGGCACGACACCAAGGTGAAGGCAGTGAGGCGGCTGTGGTCACTCGGCTGGGGCTGGGGAGCCGCCGCTCAGGCCATGGGGCTCGTTCTGAAGCAGCTACAGTGCTGGTTGTCCCAGCCTGTGACTAATGCCAACCACAGAACTGCACACTTCAAATGGGGGCTGCGTGGTGCGACTCCCACACCTCCACGGGGCTCTATCTAGAAAGAGGCAGCAAGCTGGTGCTGCTTCTGGTCACCGTCATGTAATGAATGAGCACTTCCGCCAAGAAGAGTCAAGTTAAGCAAAATAAAATTCACAAAAGATGAGGGTCCCGGACCCGGCACTGCCGTGTCAAGAGGTGCTGCCCCCACGCCCGGGCACCAGGACGGCTCTGTCTGGACAGCGGCTTTTGCTCCTGGTGTGGCTCCCAGTGGGGGTTTCATCCCACCTCCTGTCCTGCCCATGTCCCTGGATGTCTGGAGCACAGCCGGCCTCCCC
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AAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGGGTCTGACTCCAGTGGGCGGGAGATGGAGCTGTCCGGAGGGCCTGCACGAGAGCCAGGCTCACCCAGGGGAGCTATCTGGTGGGACGTGGCGCGAGGGAGCCTATGCTTCTGTTTTGGCTTTCAGCTGTGCTGGTTTCTATCACTTGAAACTCTGAAGCCCCCAATCCCCGCAGCACACTGGGCTGTAGGCGCCCCCCGACATGGTCTGGGACGAGGCTGTAGGGCTCTCCCCACCACGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCTCTCCCCACCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCGGGTTCAGGTTTGTTGGCGCTGGGGATGGGTCAGGCATTCATCAGTGCCGAGCGGGGGAAAGGCTGAAGCTCCATCCCAGGAACCACTTGACAGGGCTGTGGTGGGGGCAGGAGTCCATCTTCATGGAGGCAGCCCGGCCCCTGGGTGACCAGGTCCAGGCCACACTCACAGGGCTGCTCGGGGTCTGGGGTGCCGGCCCCCACCTCAGCAGGGACACCCTGCTCCACCGGCCCTGCTGTTTCCATGCGGCCTCCAAAGCCTCCGGCCTCCGGGGTCACCCTTCGGGAGGCGTCAGCCTCTTCCAAGACAAACCCTCTCCCCTGTGTCACCTCCTCCCCACCCCCAAGTTCAAGGTCACTCCTGCTTCCAGGTTAGTCCTGGGCCAGAAGGGCCTTGCTCGAGGCTCGGTGACATCTGCTCCTCCCGCTGGACCCAGAGGGACCCTTCATGCTCTGCCCACCACAGACCCCGTGGGCACAGCCGGTCCAGGCACTCTTCGCTGACACGCTGGCTGTGGGGAAACCGTGAGAAGTGACAGCGAGCACTCACCTTGTTCGGGGGCGGAAATGAGGGCAGCGCCGTTGTCCAACGTGAAGAAGACGAAGGTGTTGTCCGCGACGTGCAGGTCTTGGAGGAGCTCCAGTATCTTCCCAATGCTGTCATCAATCTCCCGGACGGCGTCTCCATACCTGCAGGATGGTGACAAAAGGCATCTCCATACCTGGAGGATGGTGACAAATGGATCAGGCAGCCAACGGCATACTGTGATTCACGGAGTTCATTAAATCATAACTTCACAGACCACAGTGAAACTGGCCGGCCTCTTCCCAGAAGAGGAATGGCCTCAGTTCAAGTTCATGTGGCTTATGAAGGACAGAGCCAGCACCCCCACCACAGCCCTCCTCTGCTGATCCCAGGCCAGTGGACGGCTTCAAAGGGGTGGGGTTGCTCTGGCCTTTCCATAATTGGCCTAAATGCCACGGTACTGAGTGTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACAGGGCGAGGATGGTGCGGTCCCCATCACCTGCAGGTAGATCTGGGTGAGGTTGGCTTCCCCCGTCTTCAGATTAATAGGAAATTCTTCATAATATCTGAAAAGAACACAGATCCAGACAGACTTCAGAATTTAGGCCAAGAAAGTCCCGTTCTCCCTGATTTCACCAGCAAAGCCATGGGCTTCATTTAAAAGAAGGCTAGGGCTGGGCGTCATGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGAAGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCACCCTGGGTGACAGAGCAAGATCCTGTCTCAAGAAAAAAAAAAAAAAGGAAGCCTGGAAATGAAATGTCCACTCAGGGAACAACCAAGCTGGACGCATCCCTCGCTCCCCCAGGGCACGGTCTTGCATCTGATGACCTGGCTGAGGCCGGTGCTGCAATAACCTGCCACATGGGAAGATGGGGGAATGGGGCTGAGGGCACGACACCAAGGTGAAGGCAGTGAGGCGGCTGTGGTCACTCGGCTGGGGCTGGGGAGCCGCCGCTCAGGCCATGGGGCTCGTTCTGAAGCAGCTACAGTGCTGGTTGTCCCAGCCTGTGACTAATGCCAACCACAGAACTGCACACTTCAAATGGGGGCTGCGTGGTGCGACTCCCACACCTCCACGGGGCTCTATCTAGAAAGAGGCAGCAAGCTGGTGCTGCTTCTGGTCACCGTCATGTAATGAATGAGCACTTCCGCCAAGAAGAGTCAAGTTAAGCAAAATAAAATTCACAAAAGATGAGGGTCCCGGACCCGGCACTGCCGTGTCAAGAGGTGCTGCCCCCACGCCCGGGCACCAGGACGGCTCTGTCTGGACAGCGGCTTTTGCTCCTGGTGTGGCTCCCAGTGGGGGTTTCATCCCACCTCCTGTCCTGCCCATGTCCCTGGATGTCTGGAGCACAGCCGGCCTCCCC
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Task1_train_23050
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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.
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Pathogenic; Mucopolysaccharidosis, MPS-IV-A
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GTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACAGGGCGAGGATGGTGCGGTCCCCATCACCTGCAGGTAGATCTGGGTGAGGTTGGCTTCCCCCGTCTTCAGATTAATAGGAAATTCTTCATAATATCTGAAAAGAACACAGATCCAGACAGACTTCAGAATTTAGGCCAAGAAAGTCCCGTTCTCCCTGATTTCACCAGCAAAGCCATGGGCTTCATTTAAAAGAAGGCTAGGGCTGGGCGTCATGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGAAGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCACCCTGGGTGACAGAGCAAGATCCTGTCTCAAGAAAAAAAAAAAAAAGGAAGCCTGGAAATGAAATGTCCACTCAGGGAACAACCAAGCTGGACGCATCCCTCGCTCCCCCAGGGCACGGTCTTGCATCTGATGACCTGGCTGAGGCCGGTGCTGCAATAACCTGCCACATGGGAAGATGGGGGAATGGGGCTGAGGGCACGACACCAAGGTGAAGGCAGTGAGGCGGCTGTGGTCACTCGGCTGGGGCTGGGGAGCCGCCGCTCAGGCCATGGGGCTCGTTCTGAAGCAGCTACAGTGCTGGTTGTCCCAGCCTGTGACTAATGCCAACCACAGAACTGCACACTTCAAATGGGGGCTGCGTGGTGCGACTCCCACACCTCCACGGGGCTCTATCTAGAAAGAGGCAGCAAGCTGGTGCTGCTTCTGGTCACCGTCATGTAATGAATGAGCACTTCCGCCAAGAAGAGTCAAGTTAAGCAAAATAAAATTCACAAAAGATGAGGGTCCCGGACCCGGCACTGCCGTGTCAAGAGGTGCTGCCCCCACGCCCGGGCACCAGGACGGCTCTGTCTGGACAGCGGCTTTTGCTCCTGGTGTGGCTCCCAGTGGGGGTTTCATCCCACCTCCTGTCCTGCCCATGTCCCTGGATGTCTGGAGCACAGCCGGCCTCCCCACCCGTAGACCACATGGGCAGTACCCTGACAGCTAGGGCAGACCGTGTGGGCTCGCTCTGCTGGGGGCCTTCCTCTCTCAGGACAGCTACAGGGATCTACGACCCTGAAAAGGTGGGAAACCCCAGGCAGGAGTCTCATAGGCTCTGGGGCAAAACTTGGTGGGACAGAAGCCACCAAACCAAAGCCCTCGGTGCCCGGGGACCCAGGGACAGACCAGCCCTCATGAGTGGCGACTTGAGCCCACCAGTGCTAGAGGCGGGGGGCAGGCACGCCGGGCACAGCAGTTCAGGACGTGGGAGGGGAAGGGGTGGGGCTCCATTACCTGCCAACCATCTCCCAGTCCCTGTACACAGGGATGTTGGGCCTGGCCTTGTTGTCATAAGGTCCAAAGTGGCAGTTGGGGGATCCAAACCACTCATCAAATCCGTGCTTCAGGGGGTGGAACTGGGGCCTGTGACCCAGATGCCTGGAAACAGGAACCCAGGACACTTCAGGGACCCCACGTGGGGACACTCGGAAGTTCTGAGCAGCAACAGATACCACCTTCACAAAATTCTTGGTAAGACGAGCACCCTCCAGCACTGAGTATGGGCTATGCCTGGGCACGGCAGGGACAAAAGACCAAGGCCTCACCCGAGGAGGGTGCTGGCACTGCCCGCCTACCCTGCAGAGCGTCTGGGCACAACCGAGGGCGGCAGGCATGGCGGCGGCCGGGGTTCCCTGCACGGTGAAGGGTGGTGCATCGTGAGGAGCCTCCCAGCCGCCTGGAACCCGCCTGACATGCCCCTCGTGGCCCCGGCTCCTTCCTTCCACGTTTTCTGAACTCCCAGGAGAGTTTTGCGGGTCATGCCTCGAACCCAAGTGTGTCTCCTCTGGGTTTTCCAGGGCAGAAAATATTTCCTGCCAGGTAATTACTGGGTCTCTCCACACCGAGGCGCTCAGAGTCTCATCTCCCAGTTCAGGGCAATGGCCCCAGGATGACGACTGGGCGGGGCGTTGTGTGCCGTGCGGGAGCCCCGGGGCCTGCCAGCTGTACCCACATCCCCAGGACCCTGGCAGAGGCAGGGATTAGAGTGACGACAAGAGAACGTGACAGTGTGGCCACACTGGTGACCTCCACCAACCGCTCTCCTGGGACCGGGGTTCACCTGCTGGGAATGGCCATCGCCAGGCATCACACCCCAGGCCTGTGGGAACCCCTCCAGACCCCGTCCCGCACTCCCCTTCTGACAATCCCCCGCAGACCTTGTGCTCCCACCCTCTGGTGGCACCTAATCTCATCCTCCGGCCCACAGCAGCCCTGCAGGCCACACCTCTGTGCCCACTCGCCCTGGCCCCCAGGCCAGCTGTCCGGGTTTCCTTGCGCAGCCTGTCCTGTCCTGGAACGAATCCAGCTTGCGGCTGCTCTTCAGAACGGGCTGCAGGAGAGGTGGTATGAGATGGCTTCTAGGCACGGCCGTGGGCGGGTCTCACGTCAGTTGCGTGTCGTCTGAGGAAAGTTCTTCTGCAGCTACGGCTTTGAAAGCAGCATCCCCGACGCAGATTTCCCCGAGGCAGATTTCACCACAGCAGATTTCTGCTGCCTCCCTGGACATGGCCTCTGTACCCTGGACCTCCCGAGCTGCCTCTCCCCATCTCCTCTCTCAGGTAAGCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACT
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GTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACAGGGCGAGGATGGTGCGGTCCCCATCACCTGCAGGTAGATCTGGGTGAGGTTGGCTTCCCCCGTCTTCAGATTAATAGGAAATTCTTCATAATATCTGAAAAGAACACAGATCCAGACAGACTTCAGAATTTAGGCCAAGAAAGTCCCGTTCTCCCTGATTTCACCAGCAAAGCCATGGGCTTCATTTAAAAGAAGGCTAGGGCTGGGCGTCATGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGAAGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCACCCTGGGTGACAGAGCAAGATCCTGTCTCAAGAAAAAAAAAAAAAAGGAAGCCTGGAAATGAAATGTCCACTCAGGGAACAACCAAGCTGGACGCATCCCTCGCTCCCCCAGGGCACGGTCTTGCATCTGATGACCTGGCTGAGGCCGGTGCTGCAATAACCTGCCACATGGGAAGATGGGGGAATGGGGCTGAGGGCACGACACCAAGGTGAAGGCAGTGAGGCGGCTGTGGTCACTCGGCTGGGGCTGGGGAGCCGCCGCTCAGGCCATGGGGCTCGTTCTGAAGCAGCTACAGTGCTGGTTGTCCCAGCCTGTGACTAATGCCAACCACAGAACTGCACACTTCAAATGGGGGCTGCGTGGTGCGACTCCCACACCTCCACGGGGCTCTATCTAGAAAGAGGCAGCAAGCTGGTGCTGCTTCTGGTCACCGTCATGTAATGAATGAGCACTTCCGCCAAGAAGAGTCAAGTTAAGCAAAATAAAATTCACAAAAGATGAGGGTCCCGGACCCGGCACTGCCGTGTCAAGAGGTGCTGCCCCCACGCCCGGGCACCAGGACGGCTCTGTCTGGACAGCGGCTTTTGCTCCTGGTGTGGCTCCCAGTGGGGGTTTCATCCCACCTCCTGTCCTGCCCATGTCCCTGGATGTCTGGAGCACAGCCGGCCTCCCCACCCGTAGACCACATGGGCAGTACCCTGACAGCTAGGGCAGACCGTGTGGGCTCGCTCTGCTGGGGGCCTTCCTCTCTCAGGACAGCTACAGGGATCTACGACCCTGAAAAGGTGGGAAACCCCAGGCAGGAGTCTCATAGGCTCTGGGGCAAAACTTGGTGGGACAGAAGCCACCAAACCAAAGCCCTCGGTGCCCGGGGACCCAGGGACAGACCAGCCCTCATGAGTGGCGACTTGAGCCCACCAGTGCTAGAGGCGGGGGGCAGGCACGCCGGGCACAGCAGTTCAGGACGTGGGAGGGGAAGGGGTGGGGCTCCATTACCTGCCAACCATCTCCCAGTCCCTGTACACAGGGATGTTGGGCCTGGCCTTGTTGTCATAAGGTCCAAAGTGGCAGTTGGGGAATCCAAACCACTCATCAAATCCGTGCTTCAGGGGGTGGAACTGGGGCCTGTGACCCAGATGCCTGGAAACAGGAACCCAGGACACTTCAGGGACCCCACGTGGGGACACTCGGAAGTTCTGAGCAGCAACAGATACCACCTTCACAAAATTCTTGGTAAGACGAGCACCCTCCAGCACTGAGTATGGGCTATGCCTGGGCACGGCAGGGACAAAAGACCAAGGCCTCACCCGAGGAGGGTGCTGGCACTGCCCGCCTACCCTGCAGAGCGTCTGGGCACAACCGAGGGCGGCAGGCATGGCGGCGGCCGGGGTTCCCTGCACGGTGAAGGGTGGTGCATCGTGAGGAGCCTCCCAGCCGCCTGGAACCCGCCTGACATGCCCCTCGTGGCCCCGGCTCCTTCCTTCCACGTTTTCTGAACTCCCAGGAGAGTTTTGCGGGTCATGCCTCGAACCCAAGTGTGTCTCCTCTGGGTTTTCCAGGGCAGAAAATATTTCCTGCCAGGTAATTACTGGGTCTCTCCACACCGAGGCGCTCAGAGTCTCATCTCCCAGTTCAGGGCAATGGCCCCAGGATGACGACTGGGCGGGGCGTTGTGTGCCGTGCGGGAGCCCCGGGGCCTGCCAGCTGTACCCACATCCCCAGGACCCTGGCAGAGGCAGGGATTAGAGTGACGACAAGAGAACGTGACAGTGTGGCCACACTGGTGACCTCCACCAACCGCTCTCCTGGGACCGGGGTTCACCTGCTGGGAATGGCCATCGCCAGGCATCACACCCCAGGCCTGTGGGAACCCCTCCAGACCCCGTCCCGCACTCCCCTTCTGACAATCCCCCGCAGACCTTGTGCTCCCACCCTCTGGTGGCACCTAATCTCATCCTCCGGCCCACAGCAGCCCTGCAGGCCACACCTCTGTGCCCACTCGCCCTGGCCCCCAGGCCAGCTGTCCGGGTTTCCTTGCGCAGCCTGTCCTGTCCTGGAACGAATCCAGCTTGCGGCTGCTCTTCAGAACGGGCTGCAGGAGAGGTGGTATGAGATGGCTTCTAGGCACGGCCGTGGGCGGGTCTCACGTCAGTTGCGTGTCGTCTGAGGAAAGTTCTTCTGCAGCTACGGCTTTGAAAGCAGCATCCCCGACGCAGATTTCCCCGAGGCAGATTTCACCACAGCAGATTTCTGCTGCCTCCCTGGACATGGCCTCTGTACCCTGGACCTCCCGAGCTGCCTCTCCCCATCTCCTCTCTCAGGTAAGCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACT
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Task1_train_23051
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This gene mutation involves GALNS (galactosamine (N-acetyl)-6-sulfatase) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Mucopolysaccharidosis, MPS-IV-A
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GTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACAGGGCGAGGATGGTGCGGTCCCCATCACCTGCAGGTAGATCTGGGTGAGGTTGGCTTCCCCCGTCTTCAGATTAATAGGAAATTCTTCATAATATCTGAAAAGAACACAGATCCAGACAGACTTCAGAATTTAGGCCAAGAAAGTCCCGTTCTCCCTGATTTCACCAGCAAAGCCATGGGCTTCATTTAAAAGAAGGCTAGGGCTGGGCGTCATGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGAAGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCACCCTGGGTGACAGAGCAAGATCCTGTCTCAAGAAAAAAAAAAAAAAGGAAGCCTGGAAATGAAATGTCCACTCAGGGAACAACCAAGCTGGACGCATCCCTCGCTCCCCCAGGGCACGGTCTTGCATCTGATGACCTGGCTGAGGCCGGTGCTGCAATAACCTGCCACATGGGAAGATGGGGGAATGGGGCTGAGGGCACGACACCAAGGTGAAGGCAGTGAGGCGGCTGTGGTCACTCGGCTGGGGCTGGGGAGCCGCCGCTCAGGCCATGGGGCTCGTTCTGAAGCAGCTACAGTGCTGGTTGTCCCAGCCTGTGACTAATGCCAACCACAGAACTGCACACTTCAAATGGGGGCTGCGTGGTGCGACTCCCACACCTCCACGGGGCTCTATCTAGAAAGAGGCAGCAAGCTGGTGCTGCTTCTGGTCACCGTCATGTAATGAATGAGCACTTCCGCCAAGAAGAGTCAAGTTAAGCAAAATAAAATTCACAAAAGATGAGGGTCCCGGACCCGGCACTGCCGTGTCAAGAGGTGCTGCCCCCACGCCCGGGCACCAGGACGGCTCTGTCTGGACAGCGGCTTTTGCTCCTGGTGTGGCTCCCAGTGGGGGTTTCATCCCACCTCCTGTCCTGCCCATGTCCCTGGATGTCTGGAGCACAGCCGGCCTCCCCACCCGTAGACCACATGGGCAGTACCCTGACAGCTAGGGCAGACCGTGTGGGCTCGCTCTGCTGGGGGCCTTCCTCTCTCAGGACAGCTACAGGGATCTACGACCCTGAAAAGGTGGGAAACCCCAGGCAGGAGTCTCATAGGCTCTGGGGCAAAACTTGGTGGGACAGAAGCCACCAAACCAAAGCCCTCGGTGCCCGGGGACCCAGGGACAGACCAGCCCTCATGAGTGGCGACTTGAGCCCACCAGTGCTAGAGGCGGGGGGCAGGCACGCCGGGCACAGCAGTTCAGGACGTGGGAGGGGAAGGGGTGGGGCTCCATTACCTGCCAACCATCTCCCAGTCCCTGTACACAGGGATGTTGGGCCTGGCCTTGTTGTCATAAGGTCCAAAGTGGCAGTTGGGGGATCCAAACCACTCATCAAATCCGTGCTTCAGGGGGTGGAACTGGGGCCTGTGACCCAGATGCCTGGAAACAGGAACCCAGGACACTTCAGGGACCCCACGTGGGGACACTCGGAAGTTCTGAGCAGCAACAGATACCACCTTCACAAAATTCTTGGTAAGACGAGCACCCTCCAGCACTGAGTATGGGCTATGCCTGGGCACGGCAGGGACAAAAGACCAAGGCCTCACCCGAGGAGGGTGCTGGCACTGCCCGCCTACCCTGCAGAGCGTCTGGGCACAACCGAGGGCGGCAGGCATGGCGGCGGCCGGGGTTCCCTGCACGGTGAAGGGTGGTGCATCGTGAGGAGCCTCCCAGCCGCCTGGAACCCGCCTGACATGCCCCTCGTGGCCCCGGCTCCTTCCTTCCACGTTTTCTGAACTCCCAGGAGAGTTTTGCGGGTCATGCCTCGAACCCAAGTGTGTCTCCTCTGGGTTTTCCAGGGCAGAAAATATTTCCTGCCAGGTAATTACTGGGTCTCTCCACACCGAGGCGCTCAGAGTCTCATCTCCCAGTTCAGGGCAATGGCCCCAGGATGACGACTGGGCGGGGCGTTGTGTGCCGTGCGGGAGCCCCGGGGCCTGCCAGCTGTACCCACATCCCCAGGACCCTGGCAGAGGCAGGGATTAGAGTGACGACAAGAGAACGTGACAGTGTGGCCACACTGGTGACCTCCACCAACCGCTCTCCTGGGACCGGGGTTCACCTGCTGGGAATGGCCATCGCCAGGCATCACACCCCAGGCCTGTGGGAACCCCTCCAGACCCCGTCCCGCACTCCCCTTCTGACAATCCCCCGCAGACCTTGTGCTCCCACCCTCTGGTGGCACCTAATCTCATCCTCCGGCCCACAGCAGCCCTGCAGGCCACACCTCTGTGCCCACTCGCCCTGGCCCCCAGGCCAGCTGTCCGGGTTTCCTTGCGCAGCCTGTCCTGTCCTGGAACGAATCCAGCTTGCGGCTGCTCTTCAGAACGGGCTGCAGGAGAGGTGGTATGAGATGGCTTCTAGGCACGGCCGTGGGCGGGTCTCACGTCAGTTGCGTGTCGTCTGAGGAAAGTTCTTCTGCAGCTACGGCTTTGAAAGCAGCATCCCCGACGCAGATTTCCCCGAGGCAGATTTCACCACAGCAGATTTCTGCTGCCTCCCTGGACATGGCCTCTGTACCCTGGACCTCCCGAGCTGCCTCTCCCCATCTCCTCTCTCAGGTAAGCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACT
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GTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACAGGGCGAGGATGGTGCGGTCCCCATCACCTGCAGGTAGATCTGGGTGAGGTTGGCTTCCCCCGTCTTCAGATTAATAGGAAATTCTTCATAATATCTGAAAAGAACACAGATCCAGACAGACTTCAGAATTTAGGCCAAGAAAGTCCCGTTCTCCCTGATTTCACCAGCAAAGCCATGGGCTTCATTTAAAAGAAGGCTAGGGCTGGGCGTCATGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGAAGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCACCCTGGGTGACAGAGCAAGATCCTGTCTCAAGAAAAAAAAAAAAAAGGAAGCCTGGAAATGAAATGTCCACTCAGGGAACAACCAAGCTGGACGCATCCCTCGCTCCCCCAGGGCACGGTCTTGCATCTGATGACCTGGCTGAGGCCGGTGCTGCAATAACCTGCCACATGGGAAGATGGGGGAATGGGGCTGAGGGCACGACACCAAGGTGAAGGCAGTGAGGCGGCTGTGGTCACTCGGCTGGGGCTGGGGAGCCGCCGCTCAGGCCATGGGGCTCGTTCTGAAGCAGCTACAGTGCTGGTTGTCCCAGCCTGTGACTAATGCCAACCACAGAACTGCACACTTCAAATGGGGGCTGCGTGGTGCGACTCCCACACCTCCACGGGGCTCTATCTAGAAAGAGGCAGCAAGCTGGTGCTGCTTCTGGTCACCGTCATGTAATGAATGAGCACTTCCGCCAAGAAGAGTCAAGTTAAGCAAAATAAAATTCACAAAAGATGAGGGTCCCGGACCCGGCACTGCCGTGTCAAGAGGTGCTGCCCCCACGCCCGGGCACCAGGACGGCTCTGTCTGGACAGCGGCTTTTGCTCCTGGTGTGGCTCCCAGTGGGGGTTTCATCCCACCTCCTGTCCTGCCCATGTCCCTGGATGTCTGGAGCACAGCCGGCCTCCCCACCCGTAGACCACATGGGCAGTACCCTGACAGCTAGGGCAGACCGTGTGGGCTCGCTCTGCTGGGGGCCTTCCTCTCTCAGGACAGCTACAGGGATCTACGACCCTGAAAAGGTGGGAAACCCCAGGCAGGAGTCTCATAGGCTCTGGGGCAAAACTTGGTGGGACAGAAGCCACCAAACCAAAGCCCTCGGTGCCCGGGGACCCAGGGACAGACCAGCCCTCATGAGTGGCGACTTGAGCCCACCAGTGCTAGAGGCGGGGGGCAGGCACGCCGGGCACAGCAGTTCAGGACGTGGGAGGGGAAGGGGTGGGGCTCCATTACCTGCCAACCATCTCCCAGTCCCTGTACACAGGGATGTTGGGCCTGGCCTTGTTGTCATAAGGTCCAAAGTGGCAGTTGGGGTATCCAAACCACTCATCAAATCCGTGCTTCAGGGGGTGGAACTGGGGCCTGTGACCCAGATGCCTGGAAACAGGAACCCAGGACACTTCAGGGACCCCACGTGGGGACACTCGGAAGTTCTGAGCAGCAACAGATACCACCTTCACAAAATTCTTGGTAAGACGAGCACCCTCCAGCACTGAGTATGGGCTATGCCTGGGCACGGCAGGGACAAAAGACCAAGGCCTCACCCGAGGAGGGTGCTGGCACTGCCCGCCTACCCTGCAGAGCGTCTGGGCACAACCGAGGGCGGCAGGCATGGCGGCGGCCGGGGTTCCCTGCACGGTGAAGGGTGGTGCATCGTGAGGAGCCTCCCAGCCGCCTGGAACCCGCCTGACATGCCCCTCGTGGCCCCGGCTCCTTCCTTCCACGTTTTCTGAACTCCCAGGAGAGTTTTGCGGGTCATGCCTCGAACCCAAGTGTGTCTCCTCTGGGTTTTCCAGGGCAGAAAATATTTCCTGCCAGGTAATTACTGGGTCTCTCCACACCGAGGCGCTCAGAGTCTCATCTCCCAGTTCAGGGCAATGGCCCCAGGATGACGACTGGGCGGGGCGTTGTGTGCCGTGCGGGAGCCCCGGGGCCTGCCAGCTGTACCCACATCCCCAGGACCCTGGCAGAGGCAGGGATTAGAGTGACGACAAGAGAACGTGACAGTGTGGCCACACTGGTGACCTCCACCAACCGCTCTCCTGGGACCGGGGTTCACCTGCTGGGAATGGCCATCGCCAGGCATCACACCCCAGGCCTGTGGGAACCCCTCCAGACCCCGTCCCGCACTCCCCTTCTGACAATCCCCCGCAGACCTTGTGCTCCCACCCTCTGGTGGCACCTAATCTCATCCTCCGGCCCACAGCAGCCCTGCAGGCCACACCTCTGTGCCCACTCGCCCTGGCCCCCAGGCCAGCTGTCCGGGTTTCCTTGCGCAGCCTGTCCTGTCCTGGAACGAATCCAGCTTGCGGCTGCTCTTCAGAACGGGCTGCAGGAGAGGTGGTATGAGATGGCTTCTAGGCACGGCCGTGGGCGGGTCTCACGTCAGTTGCGTGTCGTCTGAGGAAAGTTCTTCTGCAGCTACGGCTTTGAAAGCAGCATCCCCGACGCAGATTTCCCCGAGGCAGATTTCACCACAGCAGATTTCTGCTGCCTCCCTGGACATGGCCTCTGTACCCTGGACCTCCCGAGCTGCCTCTCCCCATCTCCTCTCTCAGGTAAGCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACT
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Task1_train_23052
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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?
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Pathogenic; Morquio syndrome
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GCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACTCCTTGGGGTCCCCTCTCTCCCGTCGACAGCTGTTCAGGAGCCTCGAGGCCTCTATGGAGACCCACTCCCTGTCTAGCTCTGGCCACCGGCACCAATGACCATGCATAGGAGGCCGCTGGGCCCAAGACAGAGCTGCCAGGCCAGGCGGAGAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGT
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GCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACTCCTTGGGGTCCCCTCTCTCCCGTCGACAGCTGTTCAGGAGCCTCGAGGCCTCTATGGAGACCCACTCCCTGTCTAGCTCTGGCCACCGGCACCAATGACCATGCATAGGAGGCCGCTGGGCCCAAGACAGAGCTGCCAGGCCAGGCGGAGAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCTGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGT
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Task1_train_23053
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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.
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Pathogenic; Mucopolysaccharidosis, MPS-IV-A
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GCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACTCCTTGGGGTCCCCTCTCTCCCGTCGACAGCTGTTCAGGAGCCTCGAGGCCTCTATGGAGACCCACTCCCTGTCTAGCTCTGGCCACCGGCACCAATGACCATGCATAGGAGGCCGCTGGGCCCAAGACAGAGCTGCCAGGCCAGGCGGAGAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGT
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GCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACTCCTTGGGGTCCCCTCTCTCCCGTCGACAGCTGTTCAGGAGCCTCGAGGCCTCTATGGAGACCCACTCCCTGTCTAGCTCTGGCCACCGGCACCAATGACCATGCATAGGAGGCCGCTGGGCCCAAGACAGAGCTGCCAGGCCAGGCGGAGAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCTGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGT
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Task1_train_23054
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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.
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Pathogenic; Mucopolysaccharidosis, MPS-IV-A
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TTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACTCCTTGGGGTCCCCTCTCTCCCGTCGACAGCTGTTCAGGAGCCTCGAGGCCTCTATGGAGACCCACTCCCTGTCTAGCTCTGGCCACCGGCACCAATGACCATGCATAGGAGGCCGCTGGGCCCAAGACAGAGCTGCCAGGCCAGGCGGAGAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCA
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TTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACTCCTTGGGGTCCCCTCTCTCCCGTCGACAGCTGTTCAGGAGCCTCGAGGCCTCTATGGAGACCCACTCCCTGTCTAGCTCTGGCCACCGGCACCAATGACCATGCATAGGAGGCCGCTGGGCCCAAGACAGAGCTGCCAGGCCAGGCGGAGAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCTGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCA
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Task1_train_23055
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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.
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Pathogenic; Morquio syndrome
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TTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACTCCTTGGGGTCCCCTCTCTCCCGTCGACAGCTGTTCAGGAGCCTCGAGGCCTCTATGGAGACCCACTCCCTGTCTAGCTCTGGCCACCGGCACCAATGACCATGCATAGGAGGCCGCTGGGCCCAAGACAGAGCTGCCAGGCCAGGCGGAGAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCA
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TTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACTCCTTGGGGTCCCCTCTCTCCCGTCGACAGCTGTTCAGGAGCCTCGAGGCCTCTATGGAGACCCACTCCCTGTCTAGCTCTGGCCACCGGCACCAATGACCATGCATAGGAGGCCGCTGGGCCCAAGACAGAGCTGCCAGGCCAGGCGGAGAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCTGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCA
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Task1_train_23056
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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?
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Pathogenic; Mucopolysaccharidosis, MPS-IV-A
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GAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGT
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GAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCATCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGT
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Task1_train_23057
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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.
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Pathogenic; Inborn genetic diseases
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GAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGT
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GAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCATCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGT
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Task1_train_23058
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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?
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Pathogenic; not specified
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GTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGTGCTGGGGAGGGCCTGCTGATGAGTACCGGTTTCTTCTTGGGATGGACTGTTTGGAAGCAGGTAGAAGGGATGGAGGCACCACGCTGTGAATGGACTGTGCCCGAGTGGTGCACGTTAAGGTGGCTGTCATGGTCAATTTTACGTTCTGTGTATTTTACAATAAAAACCCCAAGCAGGAGGACGGGTGAGCACAGGGCAGGAAGCACGGAGGCTGGGGTGATGCCAGGAGGCCGGGGTGATGCCAGGTGTGATGGCACCAGCACAGCAAATGCCCACGGCAAACTCCGGAGGTGAGTGGCAGCGGCGGTGTTCACTGAAAACTTCTTCAAATTTTACAGTGTGTATTGTTGGAAAAAAGTGCTTTTAAACAGGCAGTGGGCCAGGACTTTGCTCTAGAAGGAGAAGGGGAGGGCACCGCCTGGGGCTTTGGCTCTCCTCGGATCCTCCAGCCGTCTCCCTGAGCGCCCACCTCAGCAGGAGCCTGGTAGAAGCCAACACTCCGAGGCCCCTCTGTCTGGCCTGTCTTCCTTCCTTAAGGACATATTCCCTCCTGAGGTGCTCCAAGCACCAACCAAGACACCAGTGAAGTGACTGTGCCTGCCTGGGCCCCTGCCCTCTACAGGCCGCCTTCAGCAGCTTCGGCAGCACAAACACACAACACCTGGGAAAGACAACACATTCTAAACACAACGACCAAGTTCACAGGCCCAGCTGAATTCAACCACCACGTTCACAGGCCCAGCTGCATTCAACGCATATTTATTTCTGAAACCA
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GTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGTTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGTGCTGGGGAGGGCCTGCTGATGAGTACCGGTTTCTTCTTGGGATGGACTGTTTGGAAGCAGGTAGAAGGGATGGAGGCACCACGCTGTGAATGGACTGTGCCCGAGTGGTGCACGTTAAGGTGGCTGTCATGGTCAATTTTACGTTCTGTGTATTTTACAATAAAAACCCCAAGCAGGAGGACGGGTGAGCACAGGGCAGGAAGCACGGAGGCTGGGGTGATGCCAGGAGGCCGGGGTGATGCCAGGTGTGATGGCACCAGCACAGCAAATGCCCACGGCAAACTCCGGAGGTGAGTGGCAGCGGCGGTGTTCACTGAAAACTTCTTCAAATTTTACAGTGTGTATTGTTGGAAAAAAGTGCTTTTAAACAGGCAGTGGGCCAGGACTTTGCTCTAGAAGGAGAAGGGGAGGGCACCGCCTGGGGCTTTGGCTCTCCTCGGATCCTCCAGCCGTCTCCCTGAGCGCCCACCTCAGCAGGAGCCTGGTAGAAGCCAACACTCCGAGGCCCCTCTGTCTGGCCTGTCTTCCTTCCTTAAGGACATATTCCCTCCTGAGGTGCTCCAAGCACCAACCAAGACACCAGTGAAGTGACTGTGCCTGCCTGGGCCCCTGCCCTCTACAGGCCGCCTTCAGCAGCTTCGGCAGCACAAACACACAACACCTGGGAAAGACAACACATTCTAAACACAACGACCAAGTTCACAGGCCCAGCTGAATTCAACCACCACGTTCACAGGCCCAGCTGCATTCAACGCATATTTATTTCTGAAACCA
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Task1_train_23059
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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
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GTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGTGCTGGGGAGGGCCTGCTGATGAGTACCGGTTTCTTCTTGGGATGGACTGTTTGGAAGCAGGTAGAAGGGATGGAGGCACCACGCTGTGAATGGACTGTGCCCGAGTGGTGCACGTTAAGGTGGCTGTCATGGTCAATTTTACGTTCTGTGTATTTTACAATAAAAACCCCAAGCAGGAGGACGGGTGAGCACAGGGCAGGAAGCACGGAGGCTGGGGTGATGCCAGGAGGCCGGGGTGATGCCAGGTGTGATGGCACCAGCACAGCAAATGCCCACGGCAAACTCCGGAGGTGAGTGGCAGCGGCGGTGTTCACTGAAAACTTCTTCAAATTTTACAGTGTGTATTGTTGGAAAAAAGTGCTTTTAAACAGGCAGTGGGCCAGGACTTTGCTCTAGAAGGAGAAGGGGAGGGCACCGCCTGGGGCTTTGGCTCTCCTCGGATCCTCCAGCCGTCTCCCTGAGCGCCCACCTCAGCAGGAGCCTGGTAGAAGCCAACACTCCGAGGCCCCTCTGTCTGGCCTGTCTTCCTTCCTTAAGGACATATTCCCTCCTGAGGTGCTCCAAGCACCAACCAAGACACCAGTGAAGTGACTGTGCCTGCCTGGGCCCCTGCCCTCTACAGGCCGCCTTCAGCAGCTTCGGCAGCACAAACACACAACACCTGGGAAAGACAACACATTCTAAACACAACGACCAAGTTCACAGGCCCAGCTGAATTCAACCACCACGTTCACAGGCCCAGCTGCATTCAACGCATATTTATTTCTGAAACCA
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GTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGTTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGTGCTGGGGAGGGCCTGCTGATGAGTACCGGTTTCTTCTTGGGATGGACTGTTTGGAAGCAGGTAGAAGGGATGGAGGCACCACGCTGTGAATGGACTGTGCCCGAGTGGTGCACGTTAAGGTGGCTGTCATGGTCAATTTTACGTTCTGTGTATTTTACAATAAAAACCCCAAGCAGGAGGACGGGTGAGCACAGGGCAGGAAGCACGGAGGCTGGGGTGATGCCAGGAGGCCGGGGTGATGCCAGGTGTGATGGCACCAGCACAGCAAATGCCCACGGCAAACTCCGGAGGTGAGTGGCAGCGGCGGTGTTCACTGAAAACTTCTTCAAATTTTACAGTGTGTATTGTTGGAAAAAAGTGCTTTTAAACAGGCAGTGGGCCAGGACTTTGCTCTAGAAGGAGAAGGGGAGGGCACCGCCTGGGGCTTTGGCTCTCCTCGGATCCTCCAGCCGTCTCCCTGAGCGCCCACCTCAGCAGGAGCCTGGTAGAAGCCAACACTCCGAGGCCCCTCTGTCTGGCCTGTCTTCCTTCCTTAAGGACATATTCCCTCCTGAGGTGCTCCAAGCACCAACCAAGACACCAGTGAAGTGACTGTGCCTGCCTGGGCCCCTGCCCTCTACAGGCCGCCTTCAGCAGCTTCGGCAGCACAAACACACAACACCTGGGAAAGACAACACATTCTAAACACAACGACCAAGTTCACAGGCCCAGCTGAATTCAACCACCACGTTCACAGGCCCAGCTGCATTCAACGCATATTTATTTCTGAAACCA
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Task1_train_23060
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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?
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Pathogenic; Mucopolysaccharidosis, MPS-IV-A
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GGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGTGCTGGGGAGGGCCTGCTGATGAGTACCGGTTTCTTCTTGGGATGGACTGTTTGGAAGCAGGTAGAAGGGATGGAGGCACCACGCTGTGAATGGACTGTGCCCGAGTGGTGCACGTTAAGGTGGCTGTCATGGTCAATTTTACGTTCTGTGTATTTTACAATAAAAACCCCAAGCAGGAGGACGGGTGAGCACAGGGCAGGAAGCACGGAGGCTGGGGTGATGCCAGGAGGCCGGGGTGATGCCAGGTGTGATGGCACCAGCACAGCAAATGCCCACGGCAAACTCCGGAGGTGAGTGGCAGCGGCGGTGTTCACTGAAAACTTCTTCAAATTTTACAGTGTGTATTGTTGGAAAAAAGTGCTTTTAAACAGGCAGTGGGCCAGGACTTTGCTCTAGAAGGAGAAGGGGAGGGCACCGCCTGGGGCTTTGGCTCTCCTCGGATCCTCCAGCCGTCTCCCTGAGCGCCCACCTCAGCAGGAGCCTGGTAGAAGCCAACACTCCGAGGCCCCTCTGTCTGGCCTGTCTTCCTTCCTTAAGGACATATTCCCTCCTGAGGTGCTCCAAGCACCAACCAAGACACCAGTGAAGTGACTGTGCCTGCCTGGGCCCCTGCCCTCTACAGGCCGCCTTCAGCAGCTTCGGCAGCACAAACACACAACACCTGGGAAAGACAACACATTCTAAACACAACGACCAAGTTCACAGGCCCAGCTGAATTCAACCACCACGTTCACAGGCCCAGCTGCATTCAACGCATATTTATTTCTGAAACCAATCTGAATGCAAATATGGATATTTAGAGCTGGCATCAGCAA
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GGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGGCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGTGCTGGGGAGGGCCTGCTGATGAGTACCGGTTTCTTCTTGGGATGGACTGTTTGGAAGCAGGTAGAAGGGATGGAGGCACCACGCTGTGAATGGACTGTGCCCGAGTGGTGCACGTTAAGGTGGCTGTCATGGTCAATTTTACGTTCTGTGTATTTTACAATAAAAACCCCAAGCAGGAGGACGGGTGAGCACAGGGCAGGAAGCACGGAGGCTGGGGTGATGCCAGGAGGCCGGGGTGATGCCAGGTGTGATGGCACCAGCACAGCAAATGCCCACGGCAAACTCCGGAGGTGAGTGGCAGCGGCGGTGTTCACTGAAAACTTCTTCAAATTTTACAGTGTGTATTGTTGGAAAAAAGTGCTTTTAAACAGGCAGTGGGCCAGGACTTTGCTCTAGAAGGAGAAGGGGAGGGCACCGCCTGGGGCTTTGGCTCTCCTCGGATCCTCCAGCCGTCTCCCTGAGCGCCCACCTCAGCAGGAGCCTGGTAGAAGCCAACACTCCGAGGCCCCTCTGTCTGGCCTGTCTTCCTTCCTTAAGGACATATTCCCTCCTGAGGTGCTCCAAGCACCAACCAAGACACCAGTGAAGTGACTGTGCCTGCCTGGGCCCCTGCCCTCTACAGGCCGCCTTCAGCAGCTTCGGCAGCACAAACACACAACACCTGGGAAAGACAACACATTCTAAACACAACGACCAAGTTCACAGGCCCAGCTGAATTCAACCACCACGTTCACAGGCCCAGCTGCATTCAACGCATATTTATTTCTGAAACCAATCTGAATGCAAATATGGATATTTAGAGCTGGCATCAGCAA
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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
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Task1_train_23062
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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?
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Pathogenic; Mucopolysaccharidosis, MPS-IV-A
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TGCTGTCTGCATCAGAAAGTCCTTACAAGTACACCTACCGGCCAGGACACAGCTCCTCTGGGGTTCTTTAGGCGTCAGCTGCCAAACGACCCCACAAGCCACACAGTGGAGGCCACAGAACAGGTGCCCAGGTGGGCGGGGCTTCCTGTCACCCTCCCCCACATGTGCCCCGGTGGCCACACCCCACCCCTCCACCCTGCACGGCCTGAACCCTTGCTGTCCTATGGAAACGTAGGGTGAGTCCACATGCAATTCCCTATTTACCGGGAGCCACATTAGAAAAGCAGAAGTAGGTGAAATACAGACTAACTTTATATTTTATTTAACCCAACATAACCAAAATATTATTTCGACAAGTCTTCAACATAAAAAATTATTCATGAGCTGCCCCGCCTCACCCCTCTGTCCTCTGAGAAAGTCAGGAAAAGCAGAAACTTAACAGGGAGGCTTCACCTGCAGAGCCCAGCTCATCCAGCGAAGCTATGCTGGCCCAGAAGGAGTTACACAATGAAAAGAAGAAATTCTGAAACAAAGTATCTACACTGGCCCAGAGGAACTTCAAAAGTGAAAGGATGAAATTCTGAAGCAAAGTATCTTTAGGAGGGAGATGCCACTCAGTGCAGAGAAAGGCCCGGCTACTGCTGTCAGGACACGGACCCCTGGGCGCTGGAGAGCGTGCTCTGGAAAGCAGTCACTGCACACAAATAAGACATATGAGATGGAAAAGCAGCTGCCCAGGACTGTCGGCTGTCACCCCTGGGTGGGGAAATTATGGGTGGTGTCTGTTATCTTTTCAAGTATATCTTTATGTTAAAAAACCATTAATTTAATAAAATTGTTAAGTGAGATATTTTACATTATTTTTCTTTCACCAAGTCTTCTAAATCTGTGTATTTTACACTACCAGCACCTTCCAATTCCGACAGCCACGACTGCCCAGCCCTTGGGTGTGGCCCGTGGCCCCCACTGGTCAGCACAGGTGGGTCTGAAGGCACCTGTCAGGGTCTCTGCTGGTCGGAGCCAGCACACAGGGGCTGAGCGACACCGACGGCCCAAAACTGTCTGGTACTCGGTGTCGTCCCAGTCCTCACACACAACGTGAGCACGGCGGGACAGGTGTAACCCCCCAGGTGTGGCAGCTGAGGTTCAAGAATGGAAGTGACCCCCAAGCTTGGAGACAGTAGGGTTTCAACCCAGGTGTGTCTGGGGTCCTGCACGGTGACCCATGCCCCAGGCAGGCTCATTCCTGAGTCTCCAGGTGGCTCCCACAAGGAGTTAGGGAAGGAGGCCTCCAGGCTGGCTGTGACCCCTGACCCCGCACTTGCCCACCAGGAGACATTCCAGCCTTTCAGTTCTTCAGACCTTAGGGACACCTGACCTTCGCTCAGCATTCTCCAGAGGACAGAGACAGCCGTCAGGTAAGACTGGAGCCCAGCGGGGGGACCCGGCGGCCCGAGGTGGCGGGAGTGATTCCTAGGGCGACGCAGCTCTCAGGCAGGGCGGCAGGAGCAGCCTCTTCCTCCCTTTGGGGAGGCCACGCTGCGCGCCCACCTTTCCCAAGAGTAGAGGGCGGGAAAGGTCAGACGGGGGAGGCAGGGCCCGGTAGCACGCCGGCCACCCACCTGCCAGGGAGGACGCTGTCCCGGTCATGCAGCACAGTGGCAGCGCGTGTGGTGATCGGTGACCGCCGAGACCCCACGCCTGGACCCCGCGGCCACTCCCCGAGGGGCCTCCCCCTCCCCGCACGGGGATACCCCCCGTCCCCTCCCCCTCCTCCTCCCCGCGCGGGGCCTCCCCCCTTCCCCAAGGGGCCTCCCCTCACCTCTCCCCCCACCCCGCCCGCCCTTCCCCCACCTCGCTCCTCCCTCCATCCGCCCCTCCCCTCCCCGCCCCACCCCGGCCCTGCCCCGTCCCACCGCCCGCACTCACGTCGTCCATGAGCAGGAGCAGGATGTTGGGGGGCTGCGGGGCGCCCGAGGCCCCCATCCCCGCGGCGCTGAGCACCAGCAACAGCTGCCACCACCTCGTCGCCGCGACAACCGCCGCCATGGCAACCACGGGAGCCGCGGAGCCCCGGCCAGCGAGCCGACCTAGCGAGCGTCCGCCGGCCCTTCCGGCTGGGCTGCGGGGCGGGGCCTGGACGGCCACGTGACTCGCGGGGCGGGGCCAGAGTCCGCGGAGGGACGGGAGGCGGGGCCTGGACTGCCTCGTGACCAGTGGGGCGGGGCCTGAGCCAGCTGTGTGCGGATGGGGCGGGGCTTTGGAGGCCGCGTGACCAGCGGCGGGTCACGTGACGCGGTGCCTGGCGCCGAGCCTCCCAAGATGGCGGTGTGCATCGCGGTGATTGCCAAGGAGGTGCGTACGCGCGGCGTGGGGCGTCCGGGCTCGCACCATCCTCGGCTCTCCGCTTTCTTTCTACTTCTTCCCTGGGCTTAGAAGGCACCTTAGGAAATGGGACCTGGAGGAGGCCTTCGCCGAGCTCCAGCGGTCAGGGGCTTCGCGGTGGACGAGCCGCCAGGCAGACCCTGACTGAGACCCCAGTTCCGCGCTCGCCCGTCCCGCTGCTGAACGCACCCCTCGGCGCAGCAGGTCTCCTCCCCGCCAGGACCCACCAGAAACCTAGGTGGTCCCGGGCACTACCTCCGTCCTCCGTCCTCAGCAGGTTCTGCCCGTTCTCCCGTCCAGCGCTGGTTCCCCGCGGACGGCGGCCCCGGCCCTCCTGCCAGTCTCCCCGGAGCCGAGTTAAAAACAAATCGGATCCTGTCACGCCTCTGCCTGAGACCTCTGCAGTGGCTTCTCGTTGCCTTAGGATGCTGTCTGAATAACCTGCTCTGGGATCCTTTCCCCCCATAACCCTTGGCACTCTCCGCTCCAACCAAACAATTCTGCAGCTCCCTGGACATGCTCTGCCCTCTCACCTGTGGGCCTTTGCACGCGGAACACCTCTCCCCAGCTCCCATCCTCTTTACTGGCCCACATACATTTCAACTGGAAAGCATTTTCTGAAGGCTAAGACTGAGCTGGGTGGCTGCCCACACGCTCCTGCTGCACGGAGCCTTCATTTCCTAGCCAGGGTCTCCCGAGACCAGACTCGAGACCGCTCCCTGCTGGGCGGTGGCTGCTGCTAAGCTGCTCATGGGCTTCCCTCTTGGCCAAGATGATCATTTGCTTGTTTGTGGGTTTATTGACTAGGTATCACTCCCCACGAGGGTAGCGAGGACTCTTGTTCACTGTATTTGTGCAGGACCCAGTGCTGAACACACACAGGGTAAATGGTGGTGTGTGAAAGACCGAGAAAGAAGCTGTTAATTCTGGGCTTCCAATGGTCAGAAATGCAGAGATGAAGGGAATTTGAGCTGAGTCTTGAAGGGTTTAGTAAAAGGGTCACTGTCAAGGTGAAGAAAAGCCAGTATTGAGGGTGCTGTATTTGGGTGAGCCATGCAGAGTTAGAGGTGGGCTGAGGCAGAGTGGCCTCCAGGAGAAGGTGAGAGGCGTGCCCAGGTGCCAGGCTTGATCGGCAGGCTGTGCTCAGGCCCATTTTTCTGATTCATTTTTTCTTTTCCGCCCACCCTACTGCTGCTGCTTTGCAAACAACACATAAATCTCCTTAGGTTAGCTGGGATCCCCTGAAGGCAGTGCCCACTGCGGCATAGAGAATGAAGCGGTGGGCCTTAGAGCATGGGAATGCGTTCCCCGGGTGGCTGCAGGTCACGGCTCTGCAGCATAGTTCAGAGCTGGTGTGCGCTGGGTGGAGTCTTGTCCTTTCAGTCGCCGTCATCCTTTCTTGCAGAATTACCCCCTCTACATTCGCAGCACCCCTACGGAGAACGAGCTGAAGTTCCACTACATGGTGCACACATCTCTGGACGTGGTGGATGAGAAGATCTCCGCAATGGGGAAGGCCCTGGTCGACCAGAGGGAGCTGTACCTGGGCCTGCTCTACCCCACGGAGGACTACAAGGTGTATCTTTCAGGGCAGGGTGTGTGTCAGGGAGGACCTACAGTTGCAAGATGTACTTTAGGATCAGATAACTTGAAACCTTTTAGAAGAAAAAGAGGTGAGAGTTTTTAGCCAGCCAGGGAATTAGGGTAGCTT
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TGCTGTCTGCATCAGAAAGTCCTTACAAGTACACCTACCGGCCAGGACACAGCTCCTCTGGGGTTCTTTAGGCGTCAGCTGCCAAACGACCCCACAAGCCACACAGTGGAGGCCACAGAACAGGTGCCCAGGTGGGCGGGGCTTCCTGTCACCCTCCCCCACATGTGCCCCGGTGGCCACACCCCACCCCTCCACCCTGCACGGCCTGAACCCTTGCTGTCCTATGGAAACGTAGGGTGAGTCCACATGCAATTCCCTATTTACCGGGAGCCACATTAGAAAAGCAGAAGTAGGTGAAATACAGACTAACTTTATATTTTATTTAACCCAACATAACCAAAATATTATTTCGACAAGTCTTCAACATAAAAAATTATTCATGAGCTGCCCCGCCTCACCCCTCTGTCCTCTGAGAAAGTCAGGAAAAGCAGAAACTTAACAGGGAGGCTTCACCTGCAGAGCCCAGCTCATCCAGCGAAGCTATGCTGGCCCAGAAGGAGTTACACAATGAAAAGAAGAAATTCTGAAACAAAGTATCTACACTGGCCCAGAGGAACTTCAAAAGTGAAAGGATGAAATTCTGAAGCAAAGTATCTTTAGGAGGGAGATGCCACTCAGTGCAGAGAAAGGCCCGGCTACTGCTGTCAGGACACGGACCCCTGGGCGCTGGAGAGCGTGCTCTGGAAAGCAGTCACTGCACACAAATAAGACATATGAGATGGAAAAGCAGCTGCCCAGGACTGTCGGCTGTCACCCCTGGGTGGGGAAATTATGGGTGGTGTCTGTTATCTTTTCAAGTATATCTTTATGTTAAAAAACCATTAATTTAATAAAATTGTTAAGTGAGATATTTTACATTATTTTTCTTTCACCAAGTCTTCTAAATCTGTGTATTTTACACTACCAGCACCTTCCAATTCCGACAGCCACGACTGCCCAGCCCTTGGGTGTGGCCCGTGGCCCCCACTGGTCAGCACAGGTGGGTCTGAAGGCACCTGTCAGGGTCTCTGCTGGTCGGAGCCAGCACACAGGGGCTGAGCGACACCGACGGCCCAAAACTGTCTGGTACTCGGTGTCGTCCCAGTCCTCACACACAACGTGAGCACGGCGGGACAGGTGTAACCCCCCAGGTGTGGCAGCTGAGGTTCAAGAATGGAAGTGACCCCCAAGCTTGGAGACAGTAGGGTTTCAACCCAGGTGTGTCTGGGGTCCTGCACGGTGACCCATGCCCCAGGCAGGCTCATTCCTGAGTCTCCAGGTGGCTCCCACAAGGAGTTAGGGAAGGAGGCCTCCAGGCTGGCTGTGACCCCTGACCCCGCACTTGCCCACCAGGAGACATTCCAGCCTTTCAGTTCTTCAGACCTTAGGGACACCTGACCTTCGCTCAGCATTCTCCAGAGGACAGAGACAGCCGTCAGGTAAGACTGGAGCCCAGCGGGGGGACCCGGCGGCCCGAGGTGGCGGGAGTGATTCCTAGGGCGACGCAGCTCTCAGGCAGGGCGGCAGGAGCAGCCTCTTCCTCCCTTTGGGGAGGCCACGCTGCGCGCCCACCTTTCCCAAGAGTAGAGGGCGGGAAAGGTCAGACGGGGGAGGCAGGGCCCGGTAGCACGCCGGCCACCCACCTGCCAGGGAGGACGCTGTCCCGGTCATGCAGCACAGTGGCAGCGCGTGTGGTGATCGGTGACCGCCGAGACCCCACGCCTGGACCCCGCGGCCACTCCCCGAGGGGCCTCCCCCTCCCCGCACGGGGATACCCCCCGTCCCCTCCCCCTCCTCCTCCCCGCGCGGGGCCTCCCCCCTTCCCCAAGGGGCCTCCCCTCACCTCTCCCCCCACCCCGCCCGCCCTTCCCCCACCTCGCTCCTCCCTCCATCCGCCCCTCCCCTCCCCGCCCCACCCCGGCCCTGCCCCGTCCCACCGCCCGCACTCACGTCGTCCATGAGCAGGAGCAGGATGTTGGGGGGCTGCGGGGCGCCCGAGGCCCCCATCCCCGCGGCGCTGAGCACCAGCAACAGCTGCCACCACCTCGTCGCCGCGACAACCGCCGCCAAGGCAACCACGGGAGCCGCGGAGCCCCGGCCAGCGAGCCGACCTAGCGAGCGTCCGCCGGCCCTTCCGGCTGGGCTGCGGGGCGGGGCCTGGACGGCCACGTGACTCGCGGGGCGGGGCCAGAGTCCGCGGAGGGACGGGAGGCGGGGCCTGGACTGCCTCGTGACCAGTGGGGCGGGGCCTGAGCCAGCTGTGTGCGGATGGGGCGGGGCTTTGGAGGCCGCGTGACCAGCGGCGGGTCACGTGACGCGGTGCCTGGCGCCGAGCCTCCCAAGATGGCGGTGTGCATCGCGGTGATTGCCAAGGAGGTGCGTACGCGCGGCGTGGGGCGTCCGGGCTCGCACCATCCTCGGCTCTCCGCTTTCTTTCTACTTCTTCCCTGGGCTTAGAAGGCACCTTAGGAAATGGGACCTGGAGGAGGCCTTCGCCGAGCTCCAGCGGTCAGGGGCTTCGCGGTGGACGAGCCGCCAGGCAGACCCTGACTGAGACCCCAGTTCCGCGCTCGCCCGTCCCGCTGCTGAACGCACCCCTCGGCGCAGCAGGTCTCCTCCCCGCCAGGACCCACCAGAAACCTAGGTGGTCCCGGGCACTACCTCCGTCCTCCGTCCTCAGCAGGTTCTGCCCGTTCTCCCGTCCAGCGCTGGTTCCCCGCGGACGGCGGCCCCGGCCCTCCTGCCAGTCTCCCCGGAGCCGAGTTAAAAACAAATCGGATCCTGTCACGCCTCTGCCTGAGACCTCTGCAGTGGCTTCTCGTTGCCTTAGGATGCTGTCTGAATAACCTGCTCTGGGATCCTTTCCCCCCATAACCCTTGGCACTCTCCGCTCCAACCAAACAATTCTGCAGCTCCCTGGACATGCTCTGCCCTCTCACCTGTGGGCCTTTGCACGCGGAACACCTCTCCCCAGCTCCCATCCTCTTTACTGGCCCACATACATTTCAACTGGAAAGCATTTTCTGAAGGCTAAGACTGAGCTGGGTGGCTGCCCACACGCTCCTGCTGCACGGAGCCTTCATTTCCTAGCCAGGGTCTCCCGAGACCAGACTCGAGACCGCTCCCTGCTGGGCGGTGGCTGCTGCTAAGCTGCTCATGGGCTTCCCTCTTGGCCAAGATGATCATTTGCTTGTTTGTGGGTTTATTGACTAGGTATCACTCCCCACGAGGGTAGCGAGGACTCTTGTTCACTGTATTTGTGCAGGACCCAGTGCTGAACACACACAGGGTAAATGGTGGTGTGTGAAAGACCGAGAAAGAAGCTGTTAATTCTGGGCTTCCAATGGTCAGAAATGCAGAGATGAAGGGAATTTGAGCTGAGTCTTGAAGGGTTTAGTAAAAGGGTCACTGTCAAGGTGAAGAAAAGCCAGTATTGAGGGTGCTGTATTTGGGTGAGCCATGCAGAGTTAGAGGTGGGCTGAGGCAGAGTGGCCTCCAGGAGAAGGTGAGAGGCGTGCCCAGGTGCCAGGCTTGATCGGCAGGCTGTGCTCAGGCCCATTTTTCTGATTCATTTTTTCTTTTCCGCCCACCCTACTGCTGCTGCTTTGCAAACAACACATAAATCTCCTTAGGTTAGCTGGGATCCCCTGAAGGCAGTGCCCACTGCGGCATAGAGAATGAAGCGGTGGGCCTTAGAGCATGGGAATGCGTTCCCCGGGTGGCTGCAGGTCACGGCTCTGCAGCATAGTTCAGAGCTGGTGTGCGCTGGGTGGAGTCTTGTCCTTTCAGTCGCCGTCATCCTTTCTTGCAGAATTACCCCCTCTACATTCGCAGCACCCCTACGGAGAACGAGCTGAAGTTCCACTACATGGTGCACACATCTCTGGACGTGGTGGATGAGAAGATCTCCGCAATGGGGAAGGCCCTGGTCGACCAGAGGGAGCTGTACCTGGGCCTGCTCTACCCCACGGAGGACTACAAGGTGTATCTTTCAGGGCAGGGTGTGTGTCAGGGAGGACCTACAGTTGCAAGATGTACTTTAGGATCAGATAACTTGAAACCTTTTAGAAGAAAAAGAGGTGAGAGTTTTTAGCCAGCCAGGGAATTAGGGTAGCTT
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Task1_train_23063
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This variant affects gene TRAPPC2L (trafficking protein particle complex subunit 2L) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
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Pathogenic; Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
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CTCACCTCTCCCCCCACCCCGCCCGCCCTTCCCCCACCTCGCTCCTCCCTCCATCCGCCCCTCCCCTCCCCGCCCCACCCCGGCCCTGCCCCGTCCCACCGCCCGCACTCACGTCGTCCATGAGCAGGAGCAGGATGTTGGGGGGCTGCGGGGCGCCCGAGGCCCCCATCCCCGCGGCGCTGAGCACCAGCAACAGCTGCCACCACCTCGTCGCCGCGACAACCGCCGCCATGGCAACCACGGGAGCCGCGGAGCCCCGGCCAGCGAGCCGACCTAGCGAGCGTCCGCCGGCCCTTCCGGCTGGGCTGCGGGGCGGGGCCTGGACGGCCACGTGACTCGCGGGGCGGGGCCAGAGTCCGCGGAGGGACGGGAGGCGGGGCCTGGACTGCCTCGTGACCAGTGGGGCGGGGCCTGAGCCAGCTGTGTGCGGATGGGGCGGGGCTTTGGAGGCCGCGTGACCAGCGGCGGGTCACGTGACGCGGTGCCTGGCGCCGAGCCTCCCAAGATGGCGGTGTGCATCGCGGTGATTGCCAAGGAGGTGCGTACGCGCGGCGTGGGGCGTCCGGGCTCGCACCATCCTCGGCTCTCCGCTTTCTTTCTACTTCTTCCCTGGGCTTAGAAGGCACCTTAGGAAATGGGACCTGGAGGAGGCCTTCGCCGAGCTCCAGCGGTCAGGGGCTTCGCGGTGGACGAGCCGCCAGGCAGACCCTGACTGAGACCCCAGTTCCGCGCTCGCCCGTCCCGCTGCTGAACGCACCCCTCGGCGCAGCAGGTCTCCTCCCCGCCAGGACCCACCAGAAACCTAGGTGGTCCCGGGCACTACCTCCGTCCTCCGTCCTCAGCAGGTTCTGCCCGTTCTCCCGTCCAGCGCTGGTTCCCCGCGGACGGCGGCCCCGGCCCTCCTGCCAGTCTCCCCGGAGCCGAGTTAAAAACAAATCGGATCCTGTCACGCCTCTGCCTGAGACCTCTGCAGTGGCTTCTCGTTGCCTTAGGATGCTGTCTGAATAACCTGCTCTGGGATCCTTTCCCCCCATAACCCTTGGCACTCTCCGCTCCAACCAAACAATTCTGCAGCTCCCTGGACATGCTCTGCCCTCTCACCTGTGGGCCTTTGCACGCGGAACACCTCTCCCCAGCTCCCATCCTCTTTACTGGCCCACATACATTTCAACTGGAAAGCATTTTCTGAAGGCTAAGACTGAGCTGGGTGGCTGCCCACACGCTCCTGCTGCACGGAGCCTTCATTTCCTAGCCAGGGTCTCCCGAGACCAGACTCGAGACCGCTCCCTGCTGGGCGGTGGCTGCTGCTAAGCTGCTCATGGGCTTCCCTCTTGGCCAAGATGATCATTTGCTTGTTTGTGGGTTTATTGACTAGGTATCACTCCCCACGAGGGTAGCGAGGACTCTTGTTCACTGTATTTGTGCAGGACCCAGTGCTGAACACACACAGGGTAAATGGTGGTGTGTGAAAGACCGAGAAAGAAGCTGTTAATTCTGGGCTTCCAATGGTCAGAAATGCAGAGATGAAGGGAATTTGAGCTGAGTCTTGAAGGGTTTAGTAAAAGGGTCACTGTCAAGGTGAAGAAAAGCCAGTATTGAGGGTGCTGTATTTGGGTGAGCCATGCAGAGTTAGAGGTGGGCTGAGGCAGAGTGGCCTCCAGGAGAAGGTGAGAGGCGTGCCCAGGTGCCAGGCTTGATCGGCAGGCTGTGCTCAGGCCCATTTTTCTGATTCATTTTTTCTTTTCCGCCCACCCTACTGCTGCTGCTTTGCAAACAACACATAAATCTCCTTAGGTTAGCTGGGATCCCCTGAAGGCAGTGCCCACTGCGGCATAGAGAATGAAGCGGTGGGCCTTAGAGCATGGGAATGCGTTCCCCGGGTGGCTGCAGGTCACGGCTCTGCAGCATAGTTCAGAGCTGGTGTGCGCTGGGTGGAGTCTTGTCCTTTCAGTCGCCGTCATCCTTTCTTGCAGAATTACCCCCTCTACATTCGCAGCACCCCTACGGAGAACGAGCTGAAGTTCCACTACATGGTGCACACATCTCTGGACGTGGTGGATGAGAAGATCTCCGCAATGGGGAAGGCCCTGGTCGACCAGAGGGAGCTGTACCTGGGCCTGCTCTACCCCACGGAGGACTACAAGGTGTATCTTTCAGGGCAGGGTGTGTGTCAGGGAGGACCTACAGTTGCAAGATGTACTTTAGGATCAGATAACTTGAAACCTTTTAGAAGAAAAAGAGGTGAGAGTTTTTAGCCAGCCAGGGAATTAGGGTAGCTTGAGGTGAATGAAGGCCTGTAACTCTTCTCTTTCATTGGAAGAGCCATTTGGGAAAAGCAAGGCTAGAATTCCCCGTAGAATGTTTTGGTTTGCACGTGTCCGTTGTCTGGTTTGCAGAGGAAGTGGGACACTTCTGCTTTGTACCTGCAAGGATTTCTTTCTGTGCTTTTCAGGGGGAGCCACCACCTTTGAGCAGGGGATAATAGTTTCATTTATTTCATTAGGCCTTGCCTCTTATGTCACTAGACACTCGTCTAGTCCCTTGGGACAAATCACTTGAGGCCATGGAATTCAAAGACCTTCCCAAAAGTCATCATGTAGCCTGTCCATGGTGACATTTGCTAGTAGCCACTATTTTACAAAATAATGTGGCCTCTAGAGAGGGGATCCGCCTTGTTCACGAAGCCTCTGGTTTTGCAGTTAACTTTCCGGGCCAGGCATTGATTCATGAAGAGGGTGAGGTGTTCCAGACAGACAGACTCGGAGTCTAGGTGGTTCGGCTCCTGGAGTGTGAACTGGGTAAGGCTTGGCTGCCTGCTCTTCGCTTCTCCTGCAAACACCAGACGTCGCCCTAGCAAAGTATTTAGGCTTGTACCCAGCACGGCCACTGCAGGACCAGCCCAGCATGGGCATTTCCTGTGATTCAAGGTTGCCACATTTCTCCAAAGTGAGGGCCCACAGAGGGCCCTCCACCGGCAGTCCCTGTGTTACGAGTGCCTTCCCTAACCAGCTGTGCAGATACGGCTACGTCACCAACTCCAAGGTGAAGTTTGTCATGGTGGTAGATTCCTCCAACACAGCCCTTCGAGACAACGAAATTCGCAGCGTAAGTCAGGGAGTTAGAGGGCCACGCCCGAGTGGGTGTTTTGTTTTTCCTTTTTGACTTTGTTTTGAAATGCTGAGAAACTAAAAATCTGGCAGTGGCTGTGTGTATGTGGCAAGGTCATGGTTTGCTGGGTCTTTTTCAGATGTTCCGGAAGCTACACAACTCCTACACAGACGTGATGTGCAACCCCTTCTACAACCCGGGGGACCGCATCCAGTCCAGGTGGGCCCTACTTTCTGTGTCTTGCCACCTTCTTTCTGTAGGACATGCCTTGCCATTTTGGTTGCCAAAATGCAACCATTTGGAAAATAAGGGAGGAAAGATCTTTTTAAGCTATGAGCACCATCCCCCTAGGGCAGAGGTTTTAAAGCCACAAAGCCCCGTTTCTCCACACCAACTCTTACACAGATCTCCAGCGCATAAAGTGGATAGAGTGTGTGTGGTGTGGGGAGTAGAGCTTGCCCATTTGGCTTCCCAGGTGTGCCCAGTGGGTACCTGGGGCACCTGCAGGACTCAGGGCCAAGCACATGGGCAGTGGCTTTCAGGGATCACACGTCCTTTTGTAGCTACCTGATCTTTTATGTTGAATTTGGAACAGTCAGGAACCTGGTTTGCAGGTGTCTTCCGAATAGTCCACAAAGTAAACAGATTTAACTTTTGAACATCATGAGGGAAATGTGGGGTCCATGCCCACATTCCAGACTTGCTTTCAGTGAGTCCCCAGTTCCAAGACATAATTCCCTGTGGTTGGCAGGGAAGAGGACGCTGCAGTGATCCAAGGCAGGCCCCTCCCTCCACCAGGACACTGTCTTGGGGCCATCCTGGTCCCAGATGGGAGCAGGCAGGCGAATGTCCACAGTCTTGCCTCCTGGGCTGCACAGGGCCATCCTTGCCACACCACCGCTCTGCCTGCCCATGCTGCTCCCTCCTCCACCCCTTCCTGGGGCCTTGGGAGGCTGCACAGGGAACTTGGAGGCAGCAGATGGGTTCT
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CTCACCTCTCCCCCCACCCCGCCCGCCCTTCCCCCACCTCGCTCCTCCCTCCATCCGCCCCTCCCCTCCCCGCCCCACCCCGGCCCTGCCCCGTCCCACCGCCCGCACTCACGTCGTCCATGAGCAGGAGCAGGATGTTGGGGGGCTGCGGGGCGCCCGAGGCCCCCATCCCCGCGGCGCTGAGCACCAGCAACAGCTGCCACCACCTCGTCGCCGCGACAACCGCCGCCATGGCAACCACGGGAGCCGCGGAGCCCCGGCCAGCGAGCCGACCTAGCGAGCGTCCGCCGGCCCTTCCGGCTGGGCTGCGGGGCGGGGCCTGGACGGCCACGTGACTCGCGGGGCGGGGCCAGAGTCCGCGGAGGGACGGGAGGCGGGGCCTGGACTGCCTCGTGACCAGTGGGGCGGGGCCTGAGCCAGCTGTGTGCGGATGGGGCGGGGCTTTGGAGGCCGCGTGACCAGCGGCGGGTCACGTGACGCGGTGCCTGGCGCCGAGCCTCCCAAGATGGCGGTGTGCATCGCGGTGATTGCCAAGGAGGTGCGTACGCGCGGCGTGGGGCGTCCGGGCTCGCACCATCCTCGGCTCTCCGCTTTCTTTCTACTTCTTCCCTGGGCTTAGAAGGCACCTTAGGAAATGGGACCTGGAGGAGGCCTTCGCCGAGCTCCAGCGGTCAGGGGCTTCGCGGTGGACGAGCCGCCAGGCAGACCCTGACTGAGACCCCAGTTCCGCGCTCGCCCGTCCCGCTGCTGAACGCACCCCTCGGCGCAGCAGGTCTCCTCCCCGCCAGGACCCACCAGAAACCTAGGTGGTCCCGGGCACTACCTCCGTCCTCCGTCCTCAGCAGGTTCTGCCCGTTCTCCCGTCCAGCGCTGGTTCCCCGCGGACGGCGGCCCCGGCCCTCCTGCCAGTCTCCCCGGAGCCGAGTTAAAAACAAATCGGATCCTGTCACGCCTCTGCCTGAGACCTCTGCAGTGGCTTCTCGTTGCCTTAGGATGCTGTCTGAATAACCTGCTCTGGGATCCTTTCCCCCCATAACCCTTGGCACTCTCCGCTCCAACCAAACAATTCTGCAGCTCCCTGGACATGCTCTGCCCTCTCACCTGTGGGCCTTTGCACGCGGAACACCTCTCCCCAGCTCCCATCCTCTTTACTGGCCCACATACATTTCAACTGGAAAGCATTTTCTGAAGGCTAAGACTGAGCTGGGTGGCTGCCCACACGCTCCTGCTGCACGGAGCCTTCATTTCCTAGCCAGGGTCTCCCGAGACCAGACTCGAGACCGCTCCCTGCTGGGCGGTGGCTGCTGCTAAGCTGCTCATGGGCTTCCCTCTTGGCCAAGATGATCATTTGCTTGTTTGTGGGTTTATTGACTAGGTATCACTCCCCACGAGGGTAGCGAGGACTCTTGTTCACTGTATTTGTGCAGGACCCAGTGCTGAACACACACAGGGTAAATGGTGGTGTGTGAAAGACCGAGAAAGAAGCTGTTAATTCTGGGCTTCCAATGGTCAGAAATGCAGAGATGAAGGGAATTTGAGCTGAGTCTTGAAGGGTTTAGTAAAAGGGTCACTGTCAAGGTGAAGAAAAGCCAGTATTGAGGGTGCTGTATTTGGGTGAGCCATGCAGAGTTAGAGGTGGGCTGAGGCAGAGTGGCCTCCAGGAGAAGGTGAGAGGCGTGCCCAGGTGCCAGGCTTGATCGGCAGGCTGTGCTCAGGCCCATTTTTCTGATTCATTTTTTCTTTTCCGCCCACCCTACTGCTGCTGCTTTGCAAACAACACATAAATCTCCTTAGGTTAGCTGGGATCCCCTGAAGGCAGTGCCCACTGCGGCATAGAGAATGAAGCGGTGGGCCTTAGAGCATGGGAATGCGTTCCCCGGGTGGCTGCAGGTCACGGCTCTGCAGCATAGTTCAGAGCTGGTGTGCGCTGGGTGGAGTCTTGTCCTTTCAGTCGCCGTCATCCTTTCTTGCAGAATTACCCCCTCTACATTCGCAGCACCCCTACGGAGAACGAGCTGAAGTTCCACTACATGGTGCACACATCTCTGTACGTGGTGGATGAGAAGATCTCCGCAATGGGGAAGGCCCTGGTCGACCAGAGGGAGCTGTACCTGGGCCTGCTCTACCCCACGGAGGACTACAAGGTGTATCTTTCAGGGCAGGGTGTGTGTCAGGGAGGACCTACAGTTGCAAGATGTACTTTAGGATCAGATAACTTGAAACCTTTTAGAAGAAAAAGAGGTGAGAGTTTTTAGCCAGCCAGGGAATTAGGGTAGCTTGAGGTGAATGAAGGCCTGTAACTCTTCTCTTTCATTGGAAGAGCCATTTGGGAAAAGCAAGGCTAGAATTCCCCGTAGAATGTTTTGGTTTGCACGTGTCCGTTGTCTGGTTTGCAGAGGAAGTGGGACACTTCTGCTTTGTACCTGCAAGGATTTCTTTCTGTGCTTTTCAGGGGGAGCCACCACCTTTGAGCAGGGGATAATAGTTTCATTTATTTCATTAGGCCTTGCCTCTTATGTCACTAGACACTCGTCTAGTCCCTTGGGACAAATCACTTGAGGCCATGGAATTCAAAGACCTTCCCAAAAGTCATCATGTAGCCTGTCCATGGTGACATTTGCTAGTAGCCACTATTTTACAAAATAATGTGGCCTCTAGAGAGGGGATCCGCCTTGTTCACGAAGCCTCTGGTTTTGCAGTTAACTTTCCGGGCCAGGCATTGATTCATGAAGAGGGTGAGGTGTTCCAGACAGACAGACTCGGAGTCTAGGTGGTTCGGCTCCTGGAGTGTGAACTGGGTAAGGCTTGGCTGCCTGCTCTTCGCTTCTCCTGCAAACACCAGACGTCGCCCTAGCAAAGTATTTAGGCTTGTACCCAGCACGGCCACTGCAGGACCAGCCCAGCATGGGCATTTCCTGTGATTCAAGGTTGCCACATTTCTCCAAAGTGAGGGCCCACAGAGGGCCCTCCACCGGCAGTCCCTGTGTTACGAGTGCCTTCCCTAACCAGCTGTGCAGATACGGCTACGTCACCAACTCCAAGGTGAAGTTTGTCATGGTGGTAGATTCCTCCAACACAGCCCTTCGAGACAACGAAATTCGCAGCGTAAGTCAGGGAGTTAGAGGGCCACGCCCGAGTGGGTGTTTTGTTTTTCCTTTTTGACTTTGTTTTGAAATGCTGAGAAACTAAAAATCTGGCAGTGGCTGTGTGTATGTGGCAAGGTCATGGTTTGCTGGGTCTTTTTCAGATGTTCCGGAAGCTACACAACTCCTACACAGACGTGATGTGCAACCCCTTCTACAACCCGGGGGACCGCATCCAGTCCAGGTGGGCCCTACTTTCTGTGTCTTGCCACCTTCTTTCTGTAGGACATGCCTTGCCATTTTGGTTGCCAAAATGCAACCATTTGGAAAATAAGGGAGGAAAGATCTTTTTAAGCTATGAGCACCATCCCCCTAGGGCAGAGGTTTTAAAGCCACAAAGCCCCGTTTCTCCACACCAACTCTTACACAGATCTCCAGCGCATAAAGTGGATAGAGTGTGTGTGGTGTGGGGAGTAGAGCTTGCCCATTTGGCTTCCCAGGTGTGCCCAGTGGGTACCTGGGGCACCTGCAGGACTCAGGGCCAAGCACATGGGCAGTGGCTTTCAGGGATCACACGTCCTTTTGTAGCTACCTGATCTTTTATGTTGAATTTGGAACAGTCAGGAACCTGGTTTGCAGGTGTCTTCCGAATAGTCCACAAAGTAAACAGATTTAACTTTTGAACATCATGAGGGAAATGTGGGGTCCATGCCCACATTCCAGACTTGCTTTCAGTGAGTCCCCAGTTCCAAGACATAATTCCCTGTGGTTGGCAGGGAAGAGGACGCTGCAGTGATCCAAGGCAGGCCCCTCCCTCCACCAGGACACTGTCTTGGGGCCATCCTGGTCCCAGATGGGAGCAGGCAGGCGAATGTCCACAGTCTTGCCTCCTGGGCTGCACAGGGCCATCCTTGCCACACCACCGCTCTGCCTGCCCATGCTGCTCCCTCCTCCACCCCTTCCTGGGGCCTTGGGAGGCTGCACAGGGAACTTGGAGGCAGCAGATGGGTTCT
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Task1_train_23064
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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?
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Pathogenic; Combined malonic and methylmalonic acidemia
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GCAGAATGCATGTTGCAGAATTGGACCAGCCCTCACGCGTCAGGAGCGTTGGGCCCACAGGCGGAGGCACCCTGGCTTCTTCTCGGTCTCCTTTCTCTGAATGAAGAATTCCAGTGGACGGCGGGCCCGCGCGACCCCTCCCAGGGAGCCCTCGCTTCCTGCTGATTTATTTGTTATTTAGTAGTTAAGTTTTTGGGGGGAAAGGAGAGAATTATAGTTCAACCTAAAACACGTTTTCTAGCTCTGTGAATTGCCTGATTTAAAGCTTGGCTTGGCTGGGTGCAGTGGCTCACACCTGTAATTTCAACACTTTGGGAGGCCAAGGTGAGTGGATCACCGGAGGTCAGGAGTTGGAGACCAGTCTGGTCAACATGGTGAACCCCTCGTCTCTACTAACAATACAAAAATTAGCCAGGCATGGTGGTGCGCACCTATAATCCCAGCTAGTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCCAGATCACACTACTGTACTCCAGCCTGGGTGACAGACCAAGACTGCATCTTAGATAGATAGATAGATAGACAGAGCGGGTGAGACTCCATCCCAGATAGATAATAAAGAGAGAGAGAGAAAGGAAAAAAAGGTGAGAGAGAGGAGAGAGAGAAAGAAAAGAAAAGAAGGAAAAAAGCATGGCTTACACCTGCCATAACCCCAGGACTTTGGACCAGCCTGGGCAATACAGTGAGACCTTGTCTCTACCAAAAAAAAAAAAAAAAGCTGGGTGTGGTATCACATGCTTGTGGGCCCAGCTACTCGGGAGGCTGAGGCCACAGGATGGCATGAGCCCAGGAAGTCGAGGCTGCAGTGAGCCATGATTGCATCACTACACTCCAGCCTGGGCGACACAGCAAGACCCTGTCTCAAAAAAACGAACCTTGGCACCTCACCACATTTCCACTGCGCACCAGTGTGGGAAGGGTCTGAGAGAGGCAGCGCCGTGTCTGCCCCGGGGGCGGGGTCTCCAGGCCATGCCTGTTGTGAGCGGGGGCTGTGCTGAGCTCTTCTCTGCACTTCCCCCTCTCACGGGTGGTTTTCCAGGCTCAGGATTCTAAAACCCATTATTCAGATGTACCTTAAGTGTGTTGAATTTTATATGCTTCTCCTTGGTTTTACCTAGTTTATTTCATTGTTTAGAATTTTGTGTGGTTTGGGAATCCTTAAACTCATGAAGTGAAATAGAAAGCTGAGATGCTGGGCACGTACGGAACGTTCCAGCAGTGTGGGTGAGAAAGGCTGGACGTGGCCTGTCTGGTGCGCTGCCTCATGACTGAAGGTGCAGCAGGCGTACCTGGCTGGGTACTGGGGAGGTGTTTTAAATCCTGTCTTGGCCACGTTTGGATGGGACAGTTGGGCACTCACGTCCTGTGCCTTGCCTTTCTCCAGCTCGGCCGCCTGTCAGTGCAATGCTGCCCCATGTGGTGCTCACCTTCCGGCGCCTGGGCTGCGCCTTGGCGTCCTGCCGGCTGGCGCCTGCGAGACACAGAGGAAGTGGTCTTCTGCACACAGCCCCAGTGGCCCGCTCGGACAGGAGCGCCCCGGTGTTCACCCGTGCCCTGGCCTTTGGGGACAGAATCGCCCTGGTTGACCAGCACGGCCGCCACACGTACAGGGAGCTTTATTCCCGCAGCCTTCGCCTGTCCCAGGAGATCTGCAGGCTCTGCGGGTGTGTCGGCGGGGACCTCCGGGAGGAGAGGGTCTCCTTCCTATGCGCTAACGATGCCTCCTACGTCGTGGCCCAGTGGGCGTCATGGATGAGTGGCGGTGTGGCAGTCCCCCTCTACAGGAAGCATCCCGCGGCCCAGCTGGAGTATGTCATCTGCGACTCCCAGAGCTCTGTGGTCCTTGCCAGCCAGGAGTACCTGGAGCTCCTGAGCCCGGTGGTCAGGAAGCTGGGGGTCCCGCTGCTGCCGCTCACACCAGCCATCTACACTGGAGCAGTAGAGGAACCGGCAGAGGTCCCGGTCCCAGAGCAGGGATGGAGGAACAAGGGCGCCATGATCATCTACACCAGTGGGACCACGGGGAGGCCCAAGGGCGTGCTGAGCACGCACCAAAACATCAGGGCTGTGGTGAGTGCCGCCTGGCGCCGTGATGGTTTCGGTGACCGCACAGCACTCCGGGTGGGCTCCGGGCCAGAAGCACATCTTTTCATTCGCTTTTCTGTGGAGTCATTCACAGTTGTCACCATCCTGCAGACCCGTGTGAGATACAGGGACGCAGGCCCTCGGGGTGTGGCCGCTGGCCTCACTGGCCACGCAGGACGGCTCTGGGAGCGTCCAGGTGTAGAGGGATTGAGGGGCCGCCGAGTGACCCTGCCAGGACCATGCGGCATGAGGTCAGAAGGGACCACTCACTGCCTGTGATGCTGAGGGGCTTTTCGGAGGCCAGCCACGTGTTAGGATGCGTGGTCAGGACCCCACATACACCCGGGTCTTACTCGTTTTTTGTGTGTCCTGTGACCTCAGTCACATCTTCACAGAACTCTCCAACCACATCACTTACCTGGCATTTGTACAGTGTCATAACGTCTCCTATGCACTTGAAGCAATCAAGTAAAAATGAAAACCAAAAGCCAGGAAGGGGAAGGCAGGAAGTGTACCCCACGGAGTCGTGGGCTGACGAGGCGCCATGAGCACACAGCAGGCTGGGCCCTGGGTGGCCTGCGCCGTCACTCCTGGAAGCGGCGCGCCTGTCGGGAGGGACGGGCTCTGGACTCCTCTGTCCTTGCTGAGGGGAGTGACATGCACATGTGCTTCTCCCTGGAGCCTGTGCAGGCAGCAGGCAGTGTCCTCCGTGAGATTGGACAGAGGATTCAGTGGGCCGTGCCTCACGCTGCTTCTCAGTAAGAGCTGAGGGTGTGCTCTGGAGCCTGGCCTGGGTTCTGTCCCGGCTGAGCAGGTGACGATAATTCACGAATCGGCAGAGCTCTGTGTGGGCAGTGCTGTCACCTGAGCCAGTGGTTGGGCTGGGAGTCGATTCCAGCCTGAATGGCGCTGGGTCCCTGAGTCCCAGGCTTGGGCAGGGGCGGAGCTCTGTCGACCTGGTGTCTGCAGAGCCACTCCCCGACCTTCTAAATTCCCTAAAGCCTCTGGCTGTGTGTGGCGCTGTCCTCTGTCCCCAGGGTAAGTGAGTGACCCAGCAGATCTGCTGTGGTTTTGTCGTCATCTTGAGAGGCTGCTAAAGGGGAGCAACAAAGAGCCAGCCTTCTCCTTCCCCTTCCTCAGTGGGGAGGCCCAGAGCTCCTTTCCGTGAGCCCGAGGTCTGTGTGTGCTGTTGCGGGCCACAGTCTTGCTCTTGCTCTCAGCTGTGCTCTCGTCCCCTGCAGGTGACCGGGCTGGTCCACAAGTGGGCATGGACCAAAGACGACGTGATCCTCCACGTGCTCCCGCTGCACCACGTCCATGGTGTGGTCAACGCGCTGCTCTGTCCTCTCTGGGTGGGAGCCACCTGTGTGATGATGCCTGAGTTCAGCCCTCAGCAGGTGAGTTGGGGTCAGGGCTCTCGGTTGCACCCTCAGACTAGGCGCCTTTCCCCTGTCGGGGCCAGGGCTCTCAGCCGCGCCCTCAGCCTAAGCGCCTTTCGCTGGTTGGGGTCAGGGCTCTCGGCCGCGCCCTCAGACTAGGCATCTTTTCCTGGTGTGCAGTCGCCCCTATCCACAGGGGACGTGCCAATGCCGAGACCCTGGGTAGCATGGAACCCTGTACCTACGATGCTTTTTGCTATACATACGTACCTATGATAAAGCTTAATTTATAAGTTAGGCACAGTAAGAGGTTAACAATAACAGAACAGTTATAACCATGTACTGTAATCAAGTTATGTGAAAGTGCTCTCTCTCTTCAAAATACCTTCCGGTACTGTGCTCGTCTGTTGTGAGACTGCAGTGGGCCACGCGTCATTGAAACCGTGAATAGTGAGACTGGATGAGCGGAGGTGACTGTACAGGCCCTGCTGCCCGCGAGCTCCTGCGGCTGCGGCGAATGCTCACGCGCTTGGTTTAAAATAATGCGAGTTTGTTCTTACATGCTTGGAGGCCAGGATTC
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GCAGAATGCATGTTGCAGAATTGGACCAGCCCTCACGCGTCAGGAGCGTTGGGCCCACAGGCGGAGGCACCCTGGCTTCTTCTCGGTCTCCTTTCTCTGAATGAAGAATTCCAGTGGACGGCGGGCCCGCGCGACCCCTCCCAGGGAGCCCTCGCTTCCTGCTGATTTATTTGTTATTTAGTAGTTAAGTTTTTGGGGGGAAAGGAGAGAATTATAGTTCAACCTAAAACACGTTTTCTAGCTCTGTGAATTGCCTGATTTAAAGCTTGGCTTGGCTGGGTGCAGTGGCTCACACCTGTAATTTCAACACTTTGGGAGGCCAAGGTGAGTGGATCACCGGAGGTCAGGAGTTGGAGACCAGTCTGGTCAACATGGTGAACCCCTCGTCTCTACTAACAATACAAAAATTAGCCAGGCATGGTGGTGCGCACCTATAATCCCAGCTAGTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCCAGATCACACTACTGTACTCCAGCCTGGGTGACAGACCAAGACTGCATCTTAGATAGATAGATAGATAGACAGAGCGGGTGAGACTCCATCCCAGATAGATAATAAAGAGAGAGAGAGAAAGGAAAAAAAGGTGAGAGAGAGGAGAGAGAGAAAGAAAAGAAAAGAAGGAAAAAAGCATGGCTTACACCTGCCATAACCCCAGGACTTTGGACCAGCCTGGGCAATACAGTGAGACCTTGTCTCTACCAAAAAAAAAAAAAAAAGCTGGGTGTGGTATCACATGCTTGTGGGCCCAGCTACTCGGGAGGCTGAGGCCACAGGATGGCATGAGCCCAGGAAGTCGAGGCTGCAGTGAGCCATGATTGCATCACTACACTCCAGCCTGGGCGACACAGCAAGACCCTGTCTCAAAAAAACGAACCTTGGCACCTCACCACATTTCCACTGCGCACCAGTGTGGGAAGGGTCTGAGAGAGGCAGCGCCGTGTCTGCCCCGGGGGCGGGGTCTCCAGGCCATGCCTGTTGTGAGCGGGGGCTGTGCTGAGCTCTTCTCTGCACTTCCCCCTCTCACGGGTGGTTTTCCAGGCTCAGGATTCTAAAACCCATTATTCAGATGTACCTTAAGTGTGTTGAATTTTATATGCTTCTCCTTGGTTTTACCTAGTTTATTTCATTGTTTAGAATTTTGTGTGGTTTGGGAATCCTTAAACTCATGAAGTGAAATAGAAAGCTGAGATGCTGGGCACGTACGGAACGTTCCAGCAGTGTGGGTGAGAAAGGCTGGACGTGGCCTGTCTGGTGCGCTGCCTCATGACTGAAGGTGCAGCAGGCGTACCTGGCTGGGTACTGGGGAGGTGTTTTAAATCCTGTCTTGGCCACGTTTGGATGGGACAGTTGGGCACTCACGTCCTGTGCCTTGCCTTTCTCCAGCTCGGCCGCCTGTCAGTGCAATGCTGCCCCATGTGGTGCTCACCTTCCGGCGCCTGGGCTGCGCCTTGGCGTCCTGCCGGCTGGCGCCTGCGAGACACAGAGGAAGTGGTCTTCTGCACACAGCCCCAGTGGCCCGCTCGGACAGGAGCGCCCCGGTGTTCACCCGTGCCCTGGCCTTTGGGGACAGAATCGCCCTGGTTGACCAGCACGGCCGCCACACGTACAGGGAGCTTTATTCCCGCAGCCTTCGCCTGTCCCAGGAGATCTGCAGGCTCTGCGGGTGTGTCGGCGGGGACCTCCGGGAGGAGAGGGTCTCCTTCCTATGCGCTAACGATGCCTCCTACGTCGTGGCCCAGTGGGCGTCATGGATGAGTGGCGGTGTGGCAGTCCCCCTCTACAGGAAGCATCCCGCGGCCCAGCTGGAGTATGTCATCTGCGACTCCCAGAGCTCTGTGGTCCTTGCCAGCCAGGAGTACCTGGAGCTCCTGAGCCCGGTGGTCAGGAAGCTGGGGGTCCCGCTGCTGCCGCTCACACCAGCCATCTACACTGGAGCAGTAGAGGAACCGGCAGAGGTCCCGGTCCCAGAGCAGGGATGGAGGAACAAGGGCGCCAGGATCATCTACACCAGTGGGACCACGGGGAGGCCCAAGGGCGTGCTGAGCACGCACCAAAACATCAGGGCTGTGGTGAGTGCCGCCTGGCGCCGTGATGGTTTCGGTGACCGCACAGCACTCCGGGTGGGCTCCGGGCCAGAAGCACATCTTTTCATTCGCTTTTCTGTGGAGTCATTCACAGTTGTCACCATCCTGCAGACCCGTGTGAGATACAGGGACGCAGGCCCTCGGGGTGTGGCCGCTGGCCTCACTGGCCACGCAGGACGGCTCTGGGAGCGTCCAGGTGTAGAGGGATTGAGGGGCCGCCGAGTGACCCTGCCAGGACCATGCGGCATGAGGTCAGAAGGGACCACTCACTGCCTGTGATGCTGAGGGGCTTTTCGGAGGCCAGCCACGTGTTAGGATGCGTGGTCAGGACCCCACATACACCCGGGTCTTACTCGTTTTTTGTGTGTCCTGTGACCTCAGTCACATCTTCACAGAACTCTCCAACCACATCACTTACCTGGCATTTGTACAGTGTCATAACGTCTCCTATGCACTTGAAGCAATCAAGTAAAAATGAAAACCAAAAGCCAGGAAGGGGAAGGCAGGAAGTGTACCCCACGGAGTCGTGGGCTGACGAGGCGCCATGAGCACACAGCAGGCTGGGCCCTGGGTGGCCTGCGCCGTCACTCCTGGAAGCGGCGCGCCTGTCGGGAGGGACGGGCTCTGGACTCCTCTGTCCTTGCTGAGGGGAGTGACATGCACATGTGCTTCTCCCTGGAGCCTGTGCAGGCAGCAGGCAGTGTCCTCCGTGAGATTGGACAGAGGATTCAGTGGGCCGTGCCTCACGCTGCTTCTCAGTAAGAGCTGAGGGTGTGCTCTGGAGCCTGGCCTGGGTTCTGTCCCGGCTGAGCAGGTGACGATAATTCACGAATCGGCAGAGCTCTGTGTGGGCAGTGCTGTCACCTGAGCCAGTGGTTGGGCTGGGAGTCGATTCCAGCCTGAATGGCGCTGGGTCCCTGAGTCCCAGGCTTGGGCAGGGGCGGAGCTCTGTCGACCTGGTGTCTGCAGAGCCACTCCCCGACCTTCTAAATTCCCTAAAGCCTCTGGCTGTGTGTGGCGCTGTCCTCTGTCCCCAGGGTAAGTGAGTGACCCAGCAGATCTGCTGTGGTTTTGTCGTCATCTTGAGAGGCTGCTAAAGGGGAGCAACAAAGAGCCAGCCTTCTCCTTCCCCTTCCTCAGTGGGGAGGCCCAGAGCTCCTTTCCGTGAGCCCGAGGTCTGTGTGTGCTGTTGCGGGCCACAGTCTTGCTCTTGCTCTCAGCTGTGCTCTCGTCCCCTGCAGGTGACCGGGCTGGTCCACAAGTGGGCATGGACCAAAGACGACGTGATCCTCCACGTGCTCCCGCTGCACCACGTCCATGGTGTGGTCAACGCGCTGCTCTGTCCTCTCTGGGTGGGAGCCACCTGTGTGATGATGCCTGAGTTCAGCCCTCAGCAGGTGAGTTGGGGTCAGGGCTCTCGGTTGCACCCTCAGACTAGGCGCCTTTCCCCTGTCGGGGCCAGGGCTCTCAGCCGCGCCCTCAGCCTAAGCGCCTTTCGCTGGTTGGGGTCAGGGCTCTCGGCCGCGCCCTCAGACTAGGCATCTTTTCCTGGTGTGCAGTCGCCCCTATCCACAGGGGACGTGCCAATGCCGAGACCCTGGGTAGCATGGAACCCTGTACCTACGATGCTTTTTGCTATACATACGTACCTATGATAAAGCTTAATTTATAAGTTAGGCACAGTAAGAGGTTAACAATAACAGAACAGTTATAACCATGTACTGTAATCAAGTTATGTGAAAGTGCTCTCTCTCTTCAAAATACCTTCCGGTACTGTGCTCGTCTGTTGTGAGACTGCAGTGGGCCACGCGTCATTGAAACCGTGAATAGTGAGACTGGATGAGCGGAGGTGACTGTACAGGCCCTGCTGCCCGCGAGCTCCTGCGGCTGCGGCGAATGCTCACGCGCTTGGTTTAAAATAATGCGAGTTTGTTCTTACATGCTTGGAGGCCAGGATTC
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Task1_train_23065
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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?
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Pathogenic; KBG syndrome
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TCACATGTTCTCTCTCACTTGTGGGATCTAAAAATCAGAACAATTGAGCTCATGGACACAGAGTAGAACGACGGTTACCAGAGGCTGGGAAGGGTTGTGGGGGGCTGGCAGGGAGGTAGAAGTGGTTAATGGGTACCAAAAAAAAAAAAAAAAAAAAGAATGGATAAGACCTACTATCTATCTGACAGCACAATAGGGTAACTGTAGTCAATAGTAACTGCATTGTGTATTTTAAAATAACATATAAGAGCGTTAACTGGATTGTTTGTAACTCAAGGGCTAAATGCTTGAGGGGATGGACACCCATTGGAGAAATAAAGAGGGAAGTAATGCTTCCTTGGAAGGTGTTAGAGGCACGAGCTGGTCCTCCTCATTTTTGCTCTGTACAGAGCTGTCCTGACTGCCTGTCCATCACAGCCTCTCACCTGCGGTACAAGAATGCAAACTTATCAGCATCCAGCCCCCAAAGCACCATTTGGTCCAACTCATGTTTTCTTTAAAGAAAATCTGTCGGCTGGGTGCGGTGGCTCACGCCTGTAACTCCCGCACTTTGGGAGGCTGAGGCGGGTGGATCATAAGGTCAAGAGATCGAGACCATCCTGGACATGGTGACACCCCGTCTCCACTAAAAATACAAAAATCAGCCGGGCATGGTAGCGCATGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGCCAGAGGTTGCAGTGAGCCAAGATCACACCACCACACTCCAGCCTGGCAACAGAGCGAGACTCCGTCACAAAAAAAAAAAGGAAAATAAAATTTGTCATTGTGTATATGAGAGACATTGATAAAATACATCCCCAAAGAAAGGAAGATCTTTAATGCACAAAGAGATGTTTTCAACTAAACATCTGGGAGCCCCTGGCTGTCACCACACAGCAAAGCCTAGTGCACTGCTCAGAGTGCCCAGGGCTGGGGTGGCGTCAAGGGGGGCACATATTACGAGGGCTCTCGGTGCGAGATCTGGACACCAAGGCAGGAATGTGTTCCAGGCACGTCCCACTGCACAGGATGTGGGGCCTGGGGTCCAGGGAGCCCACAACCTGAGCGCAGTGGGCTCCGAGGAGGAGGGAGGGGCTGATGCAGGCGAGGCAACGGGAGAGCCAGGGGTCCCACATGGACAGGTCAGTGGTGGCTGGAGGATGATTTCTGAGGCAGGAGTCCCTGGCACATGGGCTGCTTGAAGGCAGACAGGAAGAGCTGCCCCAGGGAGAGCCACGGGGCCCTGGCCGCCCACATCCTATGTCCCAGTGGACAGAGCAGGTCAAAGGCACGGGAGCTGCAGGGGTGGGCGGGAGCCCCACAGCAGATGGGCAGGACAGTGACTGTAGTTCTGGAACCCTGAGTCCGGCCCGCCCTGGCCCAGATGAGCGGCACACCTGGGTGCCCGTGTTCCCTTAGCCACCCAGTGTCCCTGCTGTCCCCGTATGACAGCCCCTGGGGCCTGTGCTGTGAAAGCCCTCGATGTGGCAGCCCTGGGGTGCCTGAGAGCAGCAGGTGGAGCCCAGCAGTTTAAACAGAAAATAATGCCAGCGCTGACACCCGTGAGAGGTAGGTAGGGGCAGGTGCTCCAACTGCATGGACAAGTGTTACGGAGGGACTGAGCTGCTGAGGCCCAGCCCAGTGGCCTGAGGGCCTTGCCCGTGCGGGGAGCTGTCTGCTGTCTGCTGCAGCCTTCTTGGCTCCTTTCTGAGGCTCGCCCAAGGCTAGAGGCATGCAAAGGACTCTGTAGCCCCTGCAAGGTGCTGAGCACCCGGGAAGCTCCTGGTCAAAGTGCAGAATCTATCAAGGGGAGGGGAGGCGGGCAGGGTGCAGGCACTTGGACTCATGGGCCTGGCATGCAGACGGGCCCTACCTGGCTCTCCAGGGGCATGTTGTAGACCTCGGAGTCCAGCAGCATCGTGCAGGCGCTGAATGGCACTGCCTGGTTGGCGATGGTCCTGGCCGCCCGGCAGTGAACCCGCAGAATCTCCTGCTCACAGGATACGATCAGCTTCTCCTGAAGGAGGAGAGGAGTAGAGTGAGCTGGGACACAGCCACGCTCCAGGCCCCACTGTCAACACGACAGCCCCTGGGGCCTGCGCCGTGAAAAGCCCTGGCCGTGGCGCCCCCCTGCCTGTGCCAGCCCACTTACCCGCTCGATGCTGTGCTGTAGACGCAGCTTTCCCCGGACGGCCTCCTGCTGCCTGAACAGCTCCTTCAGGGGCTCCGCCAGGGAGGGAGGGGGTGCGATCTACAGGCAAAAGGTGAGTGTGGGGGGTCAGCTGGGGCTGTGGAACTGCACGAAGGATATAGTCTGGAGTTCACGGGGGTCCCGACTCAGCCTCCCCACTCCTAGGAGCCTGCCCTGGAGGCCTCCTCCAGTCCCAGCAACAGACACACCAGGAAGCTTCTAGAAACCACTATGTGCTGGACGCGGGAGAGCGGACACCTCCACGGTGCCCCGTACAGCACCACGCAGTGAGGAGATAGTGCAGGGAGAGGCGCGGGACAGTATCTGTGGGCCATCGTGTGCCAAGGAGGGCCTGAAACACCGGCATGAGCACCCAACTGTGCAGAGGAGATACAGCGAGACAGCAGGAGGGGGCTGGGGGTAGGCTGAGCTTCCTGTGTTCACAGGGAGGGCCCATGCACCCCAAATCAGCCTTTCAACCAGGCTGTAACGTGCACAGTGGAATATGAAAGCTGACAACCGAGCCGGTGGTCTTGCAGTGGCTCGGGGGAGGGAAGCACGCACTGGCCCAGGTCCCCGTGGGGGCTGGGGGACTGTGGGCCGGAAGCGCAGGCACTGCACTCCCACCAGCAGAAGGGTTCTCACAGAGGTGGGTCGGCCATTCTGAAACTACATGCATGCTGGAAGTGAATGAGGAAGTAAAGACAGCCGAGACCATCAGGATGAGGCCTCACACTCTTGGAGAAACAAGGCCCACACAGGAGCGGGGAGCCAGGCTGAGCCCCGCAGTGCAGCAGAGACCTCAGGCCCACAGGGAGTCAGGTTTCCAAAGCAGACCCAGAAAGCATGGCCGTGTGCTCGGGGCCACAGCAGTCGTACCAGGGCCACCACTCCCCACAGGTGGACCCACACGGTAATGGCAAGGCGGAGCCGGGTGGCCAAGACCAGCTGGAACATCGAGGGGCCAGTCAGCAACAGGAGCGCACGGGGCAGATGGGCAGGTGGACGCACAAGAGGGAGACCAGGAAGAGCTCCTGACAGCCAAGGCTGGGGCGACTCATGGCATGAGACCAACGCTGGCGATGCCGGGCACCTGCAGGCGGAAGGGGTGGCTCCTGACAGCACAGCTCCAGTTAGCGGACACAGGAGAGGGAGACAGGCCCAGCGCACAGGAGTGACTGCTGCAGACGAGAGCCGTGGACAGCGATGCGCATGGACAATGGGCTGAGAGAAACAGCCTCACGCAGTCTCCACGTCTCTTCCAAGACACACACACACACCACAGAGGGAGAGACTTCAACTCATGGTGGACGGGCCTGACCAGGCCTCCAGGTCACGTCACCTATGACACCAGGAGCAGAAGGCCCCGCCTCACGCCTATAGGCTCCTGCCTAAGAAGCATCATCGCAGGCCAGGCCTGGGGCCTCTGACCACACTGCTGACCGACACTGCCCAGAAGCTCCCAGCCAGGAGACAGGGCACGGGAGGGCCTGCCACAGCGTGGACGCACGGCAGGGTCTCGTCACCTCCACGGCTCCTAAGGCACATTCAGGGGAGGCTGGGCGTGCAGCAGGTGCATAAACCTATCTCTGCTGTTTCTGAACTTTTCTGCCCATCTAAAATCAGTTCAAAATTAATGATTTAGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACAGAAAATGCAAAAATTAGCCGGACGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGGAGGTGGAGCTTGCAGTGAGC
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TCACATGTTCTCTCTCACTTGTGGGATCTAAAAATCAGAACAATTGAGCTCATGGACACAGAGTAGAACGACGGTTACCAGAGGCTGGGAAGGGTTGTGGGGGGCTGGCAGGGAGGTAGAAGTGGTTAATGGGTACCAAAAAAAAAAAAAAAAAAAAGAATGGATAAGACCTACTATCTATCTGACAGCACAATAGGGTAACTGTAGTCAATAGTAACTGCATTGTGTATTTTAAAATAACATATAAGAGCGTTAACTGGATTGTTTGTAACTCAAGGGCTAAATGCTTGAGGGGATGGACACCCATTGGAGAAATAAAGAGGGAAGTAATGCTTCCTTGGAAGGTGTTAGAGGCACGAGCTGGTCCTCCTCATTTTTGCTCTGTACAGAGCTGTCCTGACTGCCTGTCCATCACAGCCTCTCACCTGCGGTACAAGAATGCAAACTTATCAGCATCCAGCCCCCAAAGCACCATTTGGTCCAACTCATGTTTTCTTTAAAGAAAATCTGTCGGCTGGGTGCGGTGGCTCACGCCTGTAACTCCCGCACTTTGGGAGGCTGAGGCGGGTGGATCATAAGGTCAAGAGATCGAGACCATCCTGGACATGGTGACACCCCGTCTCCACTAAAAATACAAAAATCAGCCGGGCATGGTAGCGCATGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGCCAGAGGTTGCAGTGAGCCAAGATCACACCACCACACTCCAGCCTGGCAACAGAGCGAGACTCCGTCACAAAAAAAAAAAGGAAAATAAAATTTGTCATTGTGTATATGAGAGACATTGATAAAATACATCCCCAAAGAAAGGAAGATCTTTAATGCACAAAGAGATGTTTTCAACTAAACATCTGGGAGCCCCTGGCTGTCACCACACAGCAAAGCCTAGTGCACTGCTCAGAGTGCCCAGGGCTGGGGTGGCGTCAAGGGGGGCACATATTACGAGGGCTCTCGGTGCGAGATCTGGACACCAAGGCAGGAATGTGTTCCAGGCACGTCCCACTGCACAGGATGTGGGGCCTGGGGTCCAGGGAGCCCACAACCTGAGCGCAGTGGGCTCCGAGGAGGAGGGAGGGGCTGATGCAGGCGAGGCAACGGGAGAGCCAGGGGTCCCACATGGACAGGTCAGTGGTGGCTGGAGGATGATTTCTGAGGCAGGAGTCCCTGGCACATGGGCTGCTTGAAGGCAGACAGGAAGAGCTGCCCCAGGGAGAGCCACGGGGCCCTGGCCGCCCACATCCTATGTCCCAGTGGACAGAGCAGGTCAAAGGCACGGGAGCTGCAGGGGTGGGCGGGAGCCCCACAGCAGATGGGCAGGACAGTGACTGTAGTTCTGGAACCCTGAGTCCGGCCCGCCCTGGCCCAGATGAGCGGCACACCTGGGTGCCCGTGTTCCCTTAGCCACCCAGTGTCCCTGCTGTCCCCGTATGACAGCCCCTGGGGCCTGTGCTGTGAAAGCCCTCGATGTGGCAGCCCTGGGGTGCCTGAGAGCAGCAGGTGGAGCCCAGCAGTTTAAACAGAAAATAATGCCAGCGCTGACACCCGTGAGAGGTAGGTAGGGGCAGGTGCTCCAACTGCATGGACAAGTGTTACGGAGGGACTGAGCTGCTGAGGCCCAGCCCAGTGGCCTGAGGGCCTTGCCCGTGCGGGGAGCTGTCTGCTGTCTGCTGCAGCCTTCTTGGCTCCTTTCTGAGGCTCGCCCAAGGCTAGAGGCATGCAAAGGACTCTGTAGCCCCTGCAAGGTGCTGAGCACCCGGGAAGCTCCTGGTCAAAGTGCAGAATCTATCAAGGGGAGGGGAGGCGGGCAGGGTGCAGGCACTTGGACTCATGGGCCTGGCATGCAGACGGGCCCTACCTGGCTCTCCAGGGGCATGTTGTAGACCTCGGAGTCCAGCAGCATCGTGCAGGCGCTGAATGGCACTGCCTGGTTGGCGATGGTCCTGGCCGCCCGGCAGTGAACCCGCAGAATCTCCTGCTCACAGGATACGATCAGCTTCCCCTGAAGGAGGAGAGGAGTAGAGTGAGCTGGGACACAGCCACGCTCCAGGCCCCACTGTCAACACGACAGCCCCTGGGGCCTGCGCCGTGAAAAGCCCTGGCCGTGGCGCCCCCCTGCCTGTGCCAGCCCACTTACCCGCTCGATGCTGTGCTGTAGACGCAGCTTTCCCCGGACGGCCTCCTGCTGCCTGAACAGCTCCTTCAGGGGCTCCGCCAGGGAGGGAGGGGGTGCGATCTACAGGCAAAAGGTGAGTGTGGGGGGTCAGCTGGGGCTGTGGAACTGCACGAAGGATATAGTCTGGAGTTCACGGGGGTCCCGACTCAGCCTCCCCACTCCTAGGAGCCTGCCCTGGAGGCCTCCTCCAGTCCCAGCAACAGACACACCAGGAAGCTTCTAGAAACCACTATGTGCTGGACGCGGGAGAGCGGACACCTCCACGGTGCCCCGTACAGCACCACGCAGTGAGGAGATAGTGCAGGGAGAGGCGCGGGACAGTATCTGTGGGCCATCGTGTGCCAAGGAGGGCCTGAAACACCGGCATGAGCACCCAACTGTGCAGAGGAGATACAGCGAGACAGCAGGAGGGGGCTGGGGGTAGGCTGAGCTTCCTGTGTTCACAGGGAGGGCCCATGCACCCCAAATCAGCCTTTCAACCAGGCTGTAACGTGCACAGTGGAATATGAAAGCTGACAACCGAGCCGGTGGTCTTGCAGTGGCTCGGGGGAGGGAAGCACGCACTGGCCCAGGTCCCCGTGGGGGCTGGGGGACTGTGGGCCGGAAGCGCAGGCACTGCACTCCCACCAGCAGAAGGGTTCTCACAGAGGTGGGTCGGCCATTCTGAAACTACATGCATGCTGGAAGTGAATGAGGAAGTAAAGACAGCCGAGACCATCAGGATGAGGCCTCACACTCTTGGAGAAACAAGGCCCACACAGGAGCGGGGAGCCAGGCTGAGCCCCGCAGTGCAGCAGAGACCTCAGGCCCACAGGGAGTCAGGTTTCCAAAGCAGACCCAGAAAGCATGGCCGTGTGCTCGGGGCCACAGCAGTCGTACCAGGGCCACCACTCCCCACAGGTGGACCCACACGGTAATGGCAAGGCGGAGCCGGGTGGCCAAGACCAGCTGGAACATCGAGGGGCCAGTCAGCAACAGGAGCGCACGGGGCAGATGGGCAGGTGGACGCACAAGAGGGAGACCAGGAAGAGCTCCTGACAGCCAAGGCTGGGGCGACTCATGGCATGAGACCAACGCTGGCGATGCCGGGCACCTGCAGGCGGAAGGGGTGGCTCCTGACAGCACAGCTCCAGTTAGCGGACACAGGAGAGGGAGACAGGCCCAGCGCACAGGAGTGACTGCTGCAGACGAGAGCCGTGGACAGCGATGCGCATGGACAATGGGCTGAGAGAAACAGCCTCACGCAGTCTCCACGTCTCTTCCAAGACACACACACACACCACAGAGGGAGAGACTTCAACTCATGGTGGACGGGCCTGACCAGGCCTCCAGGTCACGTCACCTATGACACCAGGAGCAGAAGGCCCCGCCTCACGCCTATAGGCTCCTGCCTAAGAAGCATCATCGCAGGCCAGGCCTGGGGCCTCTGACCACACTGCTGACCGACACTGCCCAGAAGCTCCCAGCCAGGAGACAGGGCACGGGAGGGCCTGCCACAGCGTGGACGCACGGCAGGGTCTCGTCACCTCCACGGCTCCTAAGGCACATTCAGGGGAGGCTGGGCGTGCAGCAGGTGCATAAACCTATCTCTGCTGTTTCTGAACTTTTCTGCCCATCTAAAATCAGTTCAAAATTAATGATTTAGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACAGAAAATGCAAAAATTAGCCGGACGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGGAGGTGGAGCTTGCAGTGAGC
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Task1_train_23066
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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
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TGTATTTTAAAATAACATATAAGAGCGTTAACTGGATTGTTTGTAACTCAAGGGCTAAATGCTTGAGGGGATGGACACCCATTGGAGAAATAAAGAGGGAAGTAATGCTTCCTTGGAAGGTGTTAGAGGCACGAGCTGGTCCTCCTCATTTTTGCTCTGTACAGAGCTGTCCTGACTGCCTGTCCATCACAGCCTCTCACCTGCGGTACAAGAATGCAAACTTATCAGCATCCAGCCCCCAAAGCACCATTTGGTCCAACTCATGTTTTCTTTAAAGAAAATCTGTCGGCTGGGTGCGGTGGCTCACGCCTGTAACTCCCGCACTTTGGGAGGCTGAGGCGGGTGGATCATAAGGTCAAGAGATCGAGACCATCCTGGACATGGTGACACCCCGTCTCCACTAAAAATACAAAAATCAGCCGGGCATGGTAGCGCATGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGCCAGAGGTTGCAGTGAGCCAAGATCACACCACCACACTCCAGCCTGGCAACAGAGCGAGACTCCGTCACAAAAAAAAAAAGGAAAATAAAATTTGTCATTGTGTATATGAGAGACATTGATAAAATACATCCCCAAAGAAAGGAAGATCTTTAATGCACAAAGAGATGTTTTCAACTAAACATCTGGGAGCCCCTGGCTGTCACCACACAGCAAAGCCTAGTGCACTGCTCAGAGTGCCCAGGGCTGGGGTGGCGTCAAGGGGGGCACATATTACGAGGGCTCTCGGTGCGAGATCTGGACACCAAGGCAGGAATGTGTTCCAGGCACGTCCCACTGCACAGGATGTGGGGCCTGGGGTCCAGGGAGCCCACAACCTGAGCGCAGTGGGCTCCGAGGAGGAGGGAGGGGCTGATGCAGGCGAGGCAACGGGAGAGCCAGGGGTCCCACATGGACAGGTCAGTGGTGGCTGGAGGATGATTTCTGAGGCAGGAGTCCCTGGCACATGGGCTGCTTGAAGGCAGACAGGAAGAGCTGCCCCAGGGAGAGCCACGGGGCCCTGGCCGCCCACATCCTATGTCCCAGTGGACAGAGCAGGTCAAAGGCACGGGAGCTGCAGGGGTGGGCGGGAGCCCCACAGCAGATGGGCAGGACAGTGACTGTAGTTCTGGAACCCTGAGTCCGGCCCGCCCTGGCCCAGATGAGCGGCACACCTGGGTGCCCGTGTTCCCTTAGCCACCCAGTGTCCCTGCTGTCCCCGTATGACAGCCCCTGGGGCCTGTGCTGTGAAAGCCCTCGATGTGGCAGCCCTGGGGTGCCTGAGAGCAGCAGGTGGAGCCCAGCAGTTTAAACAGAAAATAATGCCAGCGCTGACACCCGTGAGAGGTAGGTAGGGGCAGGTGCTCCAACTGCATGGACAAGTGTTACGGAGGGACTGAGCTGCTGAGGCCCAGCCCAGTGGCCTGAGGGCCTTGCCCGTGCGGGGAGCTGTCTGCTGTCTGCTGCAGCCTTCTTGGCTCCTTTCTGAGGCTCGCCCAAGGCTAGAGGCATGCAAAGGACTCTGTAGCCCCTGCAAGGTGCTGAGCACCCGGGAAGCTCCTGGTCAAAGTGCAGAATCTATCAAGGGGAGGGGAGGCGGGCAGGGTGCAGGCACTTGGACTCATGGGCCTGGCATGCAGACGGGCCCTACCTGGCTCTCCAGGGGCATGTTGTAGACCTCGGAGTCCAGCAGCATCGTGCAGGCGCTGAATGGCACTGCCTGGTTGGCGATGGTCCTGGCCGCCCGGCAGTGAACCCGCAGAATCTCCTGCTCACAGGATACGATCAGCTTCTCCTGAAGGAGGAGAGGAGTAGAGTGAGCTGGGACACAGCCACGCTCCAGGCCCCACTGTCAACACGACAGCCCCTGGGGCCTGCGCCGTGAAAAGCCCTGGCCGTGGCGCCCCCCTGCCTGTGCCAGCCCACTTACCCGCTCGATGCTGTGCTGTAGACGCAGCTTTCCCCGGACGGCCTCCTGCTGCCTGAACAGCTCCTTCAGGGGCTCCGCCAGGGAGGGAGGGGGTGCGATCTACAGGCAAAAGGTGAGTGTGGGGGGTCAGCTGGGGCTGTGGAACTGCACGAAGGATATAGTCTGGAGTTCACGGGGGTCCCGACTCAGCCTCCCCACTCCTAGGAGCCTGCCCTGGAGGCCTCCTCCAGTCCCAGCAACAGACACACCAGGAAGCTTCTAGAAACCACTATGTGCTGGACGCGGGAGAGCGGACACCTCCACGGTGCCCCGTACAGCACCACGCAGTGAGGAGATAGTGCAGGGAGAGGCGCGGGACAGTATCTGTGGGCCATCGTGTGCCAAGGAGGGCCTGAAACACCGGCATGAGCACCCAACTGTGCAGAGGAGATACAGCGAGACAGCAGGAGGGGGCTGGGGGTAGGCTGAGCTTCCTGTGTTCACAGGGAGGGCCCATGCACCCCAAATCAGCCTTTCAACCAGGCTGTAACGTGCACAGTGGAATATGAAAGCTGACAACCGAGCCGGTGGTCTTGCAGTGGCTCGGGGGAGGGAAGCACGCACTGGCCCAGGTCCCCGTGGGGGCTGGGGGACTGTGGGCCGGAAGCGCAGGCACTGCACTCCCACCAGCAGAAGGGTTCTCACAGAGGTGGGTCGGCCATTCTGAAACTACATGCATGCTGGAAGTGAATGAGGAAGTAAAGACAGCCGAGACCATCAGGATGAGGCCTCACACTCTTGGAGAAACAAGGCCCACACAGGAGCGGGGAGCCAGGCTGAGCCCCGCAGTGCAGCAGAGACCTCAGGCCCACAGGGAGTCAGGTTTCCAAAGCAGACCCAGAAAGCATGGCCGTGTGCTCGGGGCCACAGCAGTCGTACCAGGGCCACCACTCCCCACAGGTGGACCCACACGGTAATGGCAAGGCGGAGCCGGGTGGCCAAGACCAGCTGGAACATCGAGGGGCCAGTCAGCAACAGGAGCGCACGGGGCAGATGGGCAGGTGGACGCACAAGAGGGAGACCAGGAAGAGCTCCTGACAGCCAAGGCTGGGGCGACTCATGGCATGAGACCAACGCTGGCGATGCCGGGCACCTGCAGGCGGAAGGGGTGGCTCCTGACAGCACAGCTCCAGTTAGCGGACACAGGAGAGGGAGACAGGCCCAGCGCACAGGAGTGACTGCTGCAGACGAGAGCCGTGGACAGCGATGCGCATGGACAATGGGCTGAGAGAAACAGCCTCACGCAGTCTCCACGTCTCTTCCAAGACACACACACACACCACAGAGGGAGAGACTTCAACTCATGGTGGACGGGCCTGACCAGGCCTCCAGGTCACGTCACCTATGACACCAGGAGCAGAAGGCCCCGCCTCACGCCTATAGGCTCCTGCCTAAGAAGCATCATCGCAGGCCAGGCCTGGGGCCTCTGACCACACTGCTGACCGACACTGCCCAGAAGCTCCCAGCCAGGAGACAGGGCACGGGAGGGCCTGCCACAGCGTGGACGCACGGCAGGGTCTCGTCACCTCCACGGCTCCTAAGGCACATTCAGGGGAGGCTGGGCGTGCAGCAGGTGCATAAACCTATCTCTGCTGTTTCTGAACTTTTCTGCCCATCTAAAATCAGTTCAAAATTAATGATTTAGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACAGAAAATGCAAAAATTAGCCGGACGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGGAGGTGGAGCTTGCAGTGAGCCGACATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTTAAAAAAAAAAAAAAATGGATTAAAAAATGTAGCAAAGTCCCTCTAGTCCACAGACCTCACTCTGTTCAGCACCACATCCACCCTGCCTCGACGAGCCCAGCCCCCCAGTGAGGGTTCTGCTGAGATGGGGCCCGTCGGTGGCAGGGATTCTGTGGGCCACCTCCAAGGTGGGA
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TGTATTTTAAAATAACATATAAGAGCGTTAACTGGATTGTTTGTAACTCAAGGGCTAAATGCTTGAGGGGATGGACACCCATTGGAGAAATAAAGAGGGAAGTAATGCTTCCTTGGAAGGTGTTAGAGGCACGAGCTGGTCCTCCTCATTTTTGCTCTGTACAGAGCTGTCCTGACTGCCTGTCCATCACAGCCTCTCACCTGCGGTACAAGAATGCAAACTTATCAGCATCCAGCCCCCAAAGCACCATTTGGTCCAACTCATGTTTTCTTTAAAGAAAATCTGTCGGCTGGGTGCGGTGGCTCACGCCTGTAACTCCCGCACTTTGGGAGGCTGAGGCGGGTGGATCATAAGGTCAAGAGATCGAGACCATCCTGGACATGGTGACACCCCGTCTCCACTAAAAATACAAAAATCAGCCGGGCATGGTAGCGCATGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGCCAGAGGTTGCAGTGAGCCAAGATCACACCACCACACTCCAGCCTGGCAACAGAGCGAGACTCCGTCACAAAAAAAAAAAGGAAAATAAAATTTGTCATTGTGTATATGAGAGACATTGATAAAATACATCCCCAAAGAAAGGAAGATCTTTAATGCACAAAGAGATGTTTTCAACTAAACATCTGGGAGCCCCTGGCTGTCACCACACAGCAAAGCCTAGTGCACTGCTCAGAGTGCCCAGGGCTGGGGTGGCGTCAAGGGGGGCACATATTACGAGGGCTCTCGGTGCGAGATCTGGACACCAAGGCAGGAATGTGTTCCAGGCACGTCCCACTGCACAGGATGTGGGGCCTGGGGTCCAGGGAGCCCACAACCTGAGCGCAGTGGGCTCCGAGGAGGAGGGAGGGGCTGATGCAGGCGAGGCAACGGGAGAGCCAGGGGTCCCACATGGACAGGTCAGTGGTGGCTGGAGGATGATTTCTGAGGCAGGAGTCCCTGGCACATGGGCTGCTTGAAGGCAGACAGGAAGAGCTGCCCCAGGGAGAGCCACGGGGCCCTGGCCGCCCACATCCTATGTCCCAGTGGACAGAGCAGGTCAAAGGCACGGGAGCTGCAGGGGTGGGCGGGAGCCCCACAGCAGATGGGCAGGACAGTGACTGTAGTTCTGGAACCCTGAGTCCGGCCCGCCCTGGCCCAGATGAGCGGCACACCTGGGTGCCCGTGTTCCCTTAGCCACCCAGTGTCCCTGCTGTCCCCGTATGACAGCCCCTGGGGCCTGTGCTGTGAAAGCCCTCGATGTGGCAGCCCTGGGGTGCCTGAGAGCAGCAGGTGGAGCCCAGCAGTTTAAACAGAAAATAATGCCAGCGCTGACACCCGTGAGAGGTAGGTAGGGGCAGGTGCTCCAACTGCATGGACAAGTGTTACGGAGGGACTGAGCTGCTGAGGCCCAGCCCAGTGGCCTGAGGGCCTTGCCCGTGCGGGGAGCTGTCTGCTGTCTGCTGCAGCCTTCTTGGCTCCTTTCTGAGGCTCGCCCAAGGCTAGAGGCATGCAAAGGACTCTGTAGCCCCTGCAAGGTGCTGAGCACCCGGGAAGCTCCTGGTCAAAGTGCAGAATCTATCAAGGGGAGGGGAGGCGGGCAGGGTGCAGGCACTTGGACTCATGGGCCTGGCATGCAGACGGGCCCTACCTGGCTCTCCAGGGGCATGTTGTAGACCTCGGAGTCCAGCAGCATCGTGCAGGCGCTGAATGGCACTGCCTGGTTGGCGATGGTCCTGGCCGCCCGGCAGTGAACCCGCAGAATCTCCTGCTCACAGGATACGATCAGCTTCTCCTGAAGGAGGAGAGGAGTAGAGTGAGCTGGGACACAGCCACGCTCCAGGCCCCACTGTCAACACGACAGCCCCTGGGGCCTGCGCCGTGAAAAGCCCTGGCCGTGGCGCCCCCCTGCCTGTGCCAGCCCACTTACCCGCTCGATGCTGTGCTGTAGACGCAGCTTTCCCCGGACGGCCTCCTGCTGCCTGAACAGCTCCTTCAGGGGCTCCGCCAGGGAGGGACGGGGTGCGATCTACAGGCAAAAGGTGAGTGTGGGGGGTCAGCTGGGGCTGTGGAACTGCACGAAGGATATAGTCTGGAGTTCACGGGGGTCCCGACTCAGCCTCCCCACTCCTAGGAGCCTGCCCTGGAGGCCTCCTCCAGTCCCAGCAACAGACACACCAGGAAGCTTCTAGAAACCACTATGTGCTGGACGCGGGAGAGCGGACACCTCCACGGTGCCCCGTACAGCACCACGCAGTGAGGAGATAGTGCAGGGAGAGGCGCGGGACAGTATCTGTGGGCCATCGTGTGCCAAGGAGGGCCTGAAACACCGGCATGAGCACCCAACTGTGCAGAGGAGATACAGCGAGACAGCAGGAGGGGGCTGGGGGTAGGCTGAGCTTCCTGTGTTCACAGGGAGGGCCCATGCACCCCAAATCAGCCTTTCAACCAGGCTGTAACGTGCACAGTGGAATATGAAAGCTGACAACCGAGCCGGTGGTCTTGCAGTGGCTCGGGGGAGGGAAGCACGCACTGGCCCAGGTCCCCGTGGGGGCTGGGGGACTGTGGGCCGGAAGCGCAGGCACTGCACTCCCACCAGCAGAAGGGTTCTCACAGAGGTGGGTCGGCCATTCTGAAACTACATGCATGCTGGAAGTGAATGAGGAAGTAAAGACAGCCGAGACCATCAGGATGAGGCCTCACACTCTTGGAGAAACAAGGCCCACACAGGAGCGGGGAGCCAGGCTGAGCCCCGCAGTGCAGCAGAGACCTCAGGCCCACAGGGAGTCAGGTTTCCAAAGCAGACCCAGAAAGCATGGCCGTGTGCTCGGGGCCACAGCAGTCGTACCAGGGCCACCACTCCCCACAGGTGGACCCACACGGTAATGGCAAGGCGGAGCCGGGTGGCCAAGACCAGCTGGAACATCGAGGGGCCAGTCAGCAACAGGAGCGCACGGGGCAGATGGGCAGGTGGACGCACAAGAGGGAGACCAGGAAGAGCTCCTGACAGCCAAGGCTGGGGCGACTCATGGCATGAGACCAACGCTGGCGATGCCGGGCACCTGCAGGCGGAAGGGGTGGCTCCTGACAGCACAGCTCCAGTTAGCGGACACAGGAGAGGGAGACAGGCCCAGCGCACAGGAGTGACTGCTGCAGACGAGAGCCGTGGACAGCGATGCGCATGGACAATGGGCTGAGAGAAACAGCCTCACGCAGTCTCCACGTCTCTTCCAAGACACACACACACACCACAGAGGGAGAGACTTCAACTCATGGTGGACGGGCCTGACCAGGCCTCCAGGTCACGTCACCTATGACACCAGGAGCAGAAGGCCCCGCCTCACGCCTATAGGCTCCTGCCTAAGAAGCATCATCGCAGGCCAGGCCTGGGGCCTCTGACCACACTGCTGACCGACACTGCCCAGAAGCTCCCAGCCAGGAGACAGGGCACGGGAGGGCCTGCCACAGCGTGGACGCACGGCAGGGTCTCGTCACCTCCACGGCTCCTAAGGCACATTCAGGGGAGGCTGGGCGTGCAGCAGGTGCATAAACCTATCTCTGCTGTTTCTGAACTTTTCTGCCCATCTAAAATCAGTTCAAAATTAATGATTTAGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACAGAAAATGCAAAAATTAGCCGGACGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGGAGGTGGAGCTTGCAGTGAGCCGACATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTTAAAAAAAAAAAAAAATGGATTAAAAAATGTAGCAAAGTCCCTCTAGTCCACAGACCTCACTCTGTTCAGCACCACATCCACCCTGCCTCGACGAGCCCAGCCCCCCAGTGAGGGTTCTGCTGAGATGGGGCCCGTCGGTGGCAGGGATTCTGTGGGCCACCTCCAAGGTGGGA
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Task1_train_23067
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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?
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Pathogenic; KBG syndrome
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GGGGAGCTTCTGTTTATTTTTCTTATCTTGCGTGGAGTCCACTGAGGCTCTGTCCTTCCTGTCCTTGTACTTTTCTGTGGACTCTTTATCCTTCTTCTCCTTGTGCTTTTCAAAGACTTTCTCTTTTTTGTCTCTCCCCGCGTCGGCAGCCCCTCGGTCCTTTCTCCTGTCTCTGGGCTCCTTGTCCTTCTGCCTCTCAGGGTGCTGCTTGTCAGAAGACTTCCTGTGTCTGTCGGAGGCATAGGCCTCCCGTCCTTCCTCCTTCTCCTGGAGGCCGTCCGTCCTCGGCAAGTCGCTGGCCTCTCCCATCTTGAACCCGCTCCCCATGCAGCTGTCTCTGTCGTCCTCACTCTCATCTGTGAAGATGTCTGCGATGTACCAGCTTTTCTCTTTGCCTTTCTTGTCATCTTTTTTTTCAGAGAAGTCTTCTGAGATGATCCCAGGGAAAGCCTTCTCCTTCTTCTCTTTCCCTTGGTCGAGAGACGCTTTCCTTTCTTTGTCTTTGCCATGTGTGTCTTTATGTTTTTCCTTGGTATCTTTTTTCTCTTTAAAACATTTATCAAATTCTTTGTCCTTCTGACATTTTTCCAGGATTGATTTCTCACTTTTGTCCTTGTCACTGGATTTCTCTTTGTATCTTTCTGGTTTTGTCTTCTCCTTCCTTTCCTTATCGGGGCCATCCTTCTTCTCCTTCTCTCGTGCTGGGTGGTGCCGTTCCCACGGCTCCAGGCCCTTCCCAAAGTCGCCGTCGGACTTGTCCTTGAAGCCACTCTCGCAGCCACACTCCTTCAGCTCCTCCCGGTGCGCCTCCTCGGGCTTGGCCCTGCCGTCCCTGCGCTCCTTGCAGCTCTCCAGGGCGTCCTTTCTGTCCCGCCCGGCCTCTGCGGACTCTCTCCTCTTCTTGTCCTTTTCCGAAAGGTAGCCAGGGACACTTTTATGCTTTTCGGTCTGCTCTTTCCTCTTCTCAGAGTTTTTATCCAAATAGTCCCTGTCCTTCTTTCGGAAGAAGGGCTCTCTGTAGTCTCGCTTCTCCCGGGCCCGGCTGTCCCGCCTCCTCTCCTTGCTGTCCTCCTTCACCGTCTCCAAGATGAGCTTGGCCACAGAGTCGCTCTTCATGTCCCTGTAGTCTGTCACTGGCGAGTCCCAGCTGTCCTCCCCTTTGAAATCAAAGGATGAATCGGACAAGTCAGAAAACCACCGATCTCGCTGATCGTCAGAAAGGCTAAATTTGGTGTCTTCATTCTCCAGAAACTGATTTTTGTTACAATATTCGTCAAAAGCAGAATCTTCCCTATAAACCTTTTCTTTTTTGAGTTTTTCTTTATCTTCTTTAAAAATCTTCTCCTTCTCTTTTGAAATTTTGTCCTCTTTTAAATCATTCTTCTTCTCTAATTTTGAGGGCCGGTCTTTTGATTTCTTCTTTCTCTCCTCTTTGTACAGTCTCAGTTTTTCTTCTTTCGGAGACTTTTCCTTCAGCGATCTCTCCTTTTCTGCTTTATTCGAACGGTCTTTCTCTTCTCGGAAAGACCTGCTGATGTCTTTGTTTGTGTCTTTGATTCTCTTCAGTGATTTTTCATCTTTAAAGAGCCATTCTTTTTCTTCTAATTTCATTTTGCTAAGTTTCTCTTCTTTTTTAAAGTGGTCGCGATCGTGCTTTAACACTTTTAGCTTGTTTTCAGTGGAAAGATCATTCTCTAACAGTATAGCCTTATCTGACTTCTGCTTGGAGTCCTCATATTCGTAAGTAAAACTTTTCAACTTCAGCTCTTGGCTGATGGAACACTGTCCCTTCTCCTTGTTTTTGTGTTTGTGTTTTGTTTTATGTTTTTTGACAACTTTCCCCTCCTTGTCCAGTTTGGGGACAGCGCCCTCCGCGCTGGACAGGAAGGGGCTCTTCTTCTCCGACAGGGAGGCTCGCTTCCTGTGCTCCTGCCTCTTCCTCACTGGCTTCAGCGATTCCACACTGGAGCCCTCAGAGGAGTAGTCAGACTCGCTTGTCAGTCTCGTCCTTGTGGAGTCTGATAAAGAACTGACCTCTGACCAAGCCGGGGAAGAAATGGTTTTCCAATTGTCTGTCCGCCAGTGCTTGGTGTGCTGGTCTGTGTGGCTGGGGTTCTGCTTCTGGGCGGCAGAGCTCCCGTGAGACGAGGTGGAGGAGGCAGAGAGGGAGCTGAACAGGGAGGGGTCCTTCAGCACCAGCGGGGACCCCTTGAGGCAGCCAGAGCTCCCCAGAGAGTCCCTGTCATCCTCCCCACTCTCTGAGGACTCGCTCTCCGACTCCGAGGAGCAGAACTTGTCGCTCCGCTTTCCGAAGCGAACCTCTCTGCCTTTTGTTTCTTTCTTTCGCTTCTTTTTCACTTTATTTTTTTCCTTCTGCTGCTTGGCATTAGAAGGCTCTCGTGTCTTACTACCAGGCAATATCGTATGTGCCGAGAGTCTCAGCTTCTCTCCTGTCCCCACGGTGACACTCGCGTCCTCCTCGTCCGACGTGTCTGACAGGATACGATGGGACGCTTTCTTTGGTGCAATCGTGTTATTTTTAGTGTAACTTTTAACCTCCATTTTGGGTATAGAGATAAAACTATTGGATTTCGTTTCTTTTCTGTAGTCCTTTTTCAATAGGTGCTTGTCGTCCACCGGAGGAACCCTGTCCTGCTCGTCGTCCTCATCAAACTCATACTCGTCCTTGACGGGGGCCGTGGCCTTCTGTGGCTCTGGGTTCTTGGCCTTGTGCTTGAGGCCTTTTTCGAACTCGGAGTCCGTGTTGTTGCCGTCGACTGAACTGGAAGGTGCGAAGGATGGTGCGTCTTCCTCTTCTGAGCTCTCTGTTGGAGGTAGGAAGCGAGAGGTCACAGGCAGGCTCAAAACAGCTCTCCCCAGAATGGCAGAGGAGGGAGGCTCTGCAGATGTGTCTGCGGGAAGGTTCCCACCCTGCCTCTGCAGAGACACTTTGCTCGACTCATGGAAACCAGCCACAGGCAGGAGGAAACCAGACAGAGCTCAGCTGACAGACAGGGCTGGCATCTTAGAATGAAGACTGCAGGCTTCTCGGCAGTGACACACCTGGGCGGGGTCTCCCGCAGTCCAGAAGCTCCTGTAAGCCCCCAGCATCCGAGGAGGAGCTGATCAGAGGGGCAACACTGTGCAAACACCACAGGGCAGCTCCTACCATCCCTGCATAAAAGAACAGGCAGCTCAGGTGGCCGTGACTTACCCGTCGAGCTCTCCTCGCTGGAAGTGTAAGTGCCTTTGCCTAACAGGAGGTTCACCATCGTGGGGGAGTTGGCCACTTTCAGCGGCGTCTCGCCTTTCCTGTTGCTCTGCTGCGGGTTCCCTCCGTACCGCAGCAGCAGCTTCACCACCTACAAGACAGTAACACCCGCGTCAGGGACTGCTGGAGAAGCACAACTCCTCTACCGTTCCGCATAACACGGCAGCCCCTTCCGAGAACCCTGGGGTTCGACCCGAGAGCAGCCCCTCACGGTCTGAGGGTGTGGGAGCCGAGCGCCCAGGGACTGCCTGGCGAGGCTCTGGGTGTGGTGGGCGAGGCTGTGGCTCCTCTGTGGGAAGGGCTGCAGCCGCGGGGGCTCCCGCACCCCTCCTGTGCTCTCCTTCAGAAGGGCTCTGCCTCCTTTGGATTTTTTTCCACCATTTCTCCGTTGCCGCAAGTAGACGACTTCCCAGGAATCTTCTCACGAAGGCTCTCCCCTCCCGCCAACAGTGAGCTCCTCAGCAGAGTGGTGCCGGAGTGGTCGTGGAGGGCTCAGGCAAGAGGTTAGGGAGAAGAGTGTTATGGAAAGGGTTGGGGGGACAGAATAGAGGAAACAAAGACCAAGTTTCTGCAAGCTGCTTTATTTTTTATTTTCATTTACATTAGAAAATAATCTCTCCCTTGCTTGATTTTACAAGGGTAAGGGTGGTCACATGACTGACAGAGACAACCATGGTGACACAGCTCTTTTCAGCTGTTCATCACCAGCAACCTGGATTTCCTATGCCCAGAACAGCAATGCACTGAACTCAAGTACAAATTAAATTTAATCCCAACTTTAGTCCAGTCTGAGATTAGCGCATTCAAAGAATCTGTCATAACGTT
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GGGGAGCTTCTGTTTATTTTTCTTATCTTGCGTGGAGTCCACTGAGGCTCTGTCCTTCCTGTCCTTGTACTTTTCTGTGGACTCTTTATCCTTCTTCTCCTTGTGCTTTTCAAAGACTTTCTCTTTTTTGTCTCTCCCCGCGTCGGCAGCCCCTCGGTCCTTTCTCCTGTCTCTGGGCTCCTTGTCCTTCTGCCTCTCAGGGTGCTGCTTGTCAGAAGACTTCCTGTGTCTGTCGGAGGCATAGGCCTCCCGTCCTTCCTCCTTCTCCTGGAGGCCGTCCGTCCTCGGCAAGTCGCTGGCCTCTCCCATCTTGAACCCGCTCCCCATGCAGCTGTCTCTGTCGTCCTCACTCTCATCTGTGAAGATGTCTGCGATGTACCAGCTTTTCTCTTTGCCTTTCTTGTCATCTTTTTTTTCAGAGAAGTCTTCTGAGATGATCCCAGGGAAAGCCTTCTCCTTCTTCTCTTTCCCTTGGTCGAGAGACGCTTTCCTTTCTTTGTCTTTGCCATGTGTGTCTTTATGTTTTTCCTTGGTATCTTTTTTCTCTTTAAAACATTTATCAAATTCTTTGTCCTTCTGACATTTTTCCAGGATTGATTTCTCACTTTTGTCCTTGTCACTGGATTTCTCTTTGTATCTTTCTGGTTTTGTCTTCTCCTTCCTTTCCTTATCGGGGCCATCCTTCTTCTCCTTCTCTCGTGCTGGGTGGTGCCGTTCCCACGGCTCCAGGCCCTTCCCAAAGTCGCCGTCGGACTTGTCCTTGAAGCCACTCTCGCAGCCACACTCCTTCAGCTCCTCCCGGTGCGCCTCCTCGGGCTTGGCCCTGCCGTCCCTGCGCTCCTTGCAGCTCTCCAGGGCGTCCTTTCTGTCCCGCCCGGCCTCTGCGGACTCTCTCCTCTTCTTGTCCTTTTCCGAAAGGTAGCCAGGGACACTTTTATGCTTTTCGGTCTGCTCTTTCCTCTTCTCAGAGTTTTTATCCAAATAGTCCCTGTCCTTCTTTCGGAAGAAGGGCTCTCTGTAGTCTCGCTTCTCCCGGGCCCGGCTGTCCCGCCTCCTCTCCTTGCTGTCCTCCTTCACCGTCTCCAAGATGAGCTTGGCCACAGAGTCGCTCTTCATGTCCCTGTAGTCTGTCACTGGCGAGTCCCAGCTGTCCTCCCCTTTGAAATCAAAGGATGAATCGGACAAGTCAGAAAACCACCGATCTCGCTGATCGTCAGAAAGGCTAAATTTGGTGTCTTCATTCTCCAGAAACTGATTTTTGTTACAATATTCGTCAAAAGCAGAATCTTCCCTATAAACCTTTTCTTTTTTGAGTTTTTCTTTATCTTCTTTAAAAATCTTCTCCTTCTCTTTTGAAATTTTGTCCTCTTTTAAATCATTCTTCTTCTCTAATTTTGAGGGCCGGTCTTTTGATTTCTTCTTTCTCTCCTCTTTGTACAGTCTCAGTTTTTCTTCTTTCGGAGACTTTTCCTTCAGCGATCTCTCCTTTTCTGCTTTATTCGAACGGTCTTTCTCTTCTCGGAAAGACCTGCTGATGTCTTTGTTTGTGTCTTTGATTCTCTTCAGTGATTTTTCATCTTTAAAGAGCCATTCTTTTTCTTCTAATTTCATTTTGCTAAGTTTCTCTTCTTTTTTAAAGTGGTCGCGATCGTGCTTTAACACTTTTAGCTTGTTTTCAGTGGAAAGATCATTCTCTAACAGTATAGCCTTATCTGACTTCTGCTTGGAGTCCTCATATTCGTAAGTAAAACTTTTCAACTTCAGCTCTTGGCTGATGGAACACTGTCCCTTCTCCTTGTTTTTGTGTTTGTGTTTTGTTTTATGTTTTTTGACAACTTTCCCCTCCTTGTCCAGTTTGGGGACAGCGCCCTCCGCGCTGGACAGGAAGGGGCTCTTCTTCTCCGACAGGGAGGCTCGCTTCCTGTGCTCCTGCCTCTTCCTCACTGGCTTCAGCGATTCCACACTGGAGCCCTCAGAGGAGTAGTCAGACTCGCTTGTCAGTCTCGTCCTTGTGGAGTCTGATAAAGAACTGACCTCTGACCAAGCCGCGGAAGAAATGGTTTTCCAATTGTCTGTCCGCCAGTGCTTGGTGTGCTGGTCTGTGTGGCTGGGGTTCTGCTTCTGGGCGGCAGAGCTCCCGTGAGACGAGGTGGAGGAGGCAGAGAGGGAGCTGAACAGGGAGGGGTCCTTCAGCACCAGCGGGGACCCCTTGAGGCAGCCAGAGCTCCCCAGAGAGTCCCTGTCATCCTCCCCACTCTCTGAGGACTCGCTCTCCGACTCCGAGGAGCAGAACTTGTCGCTCCGCTTTCCGAAGCGAACCTCTCTGCCTTTTGTTTCTTTCTTTCGCTTCTTTTTCACTTTATTTTTTTCCTTCTGCTGCTTGGCATTAGAAGGCTCTCGTGTCTTACTACCAGGCAATATCGTATGTGCCGAGAGTCTCAGCTTCTCTCCTGTCCCCACGGTGACACTCGCGTCCTCCTCGTCCGACGTGTCTGACAGGATACGATGGGACGCTTTCTTTGGTGCAATCGTGTTATTTTTAGTGTAACTTTTAACCTCCATTTTGGGTATAGAGATAAAACTATTGGATTTCGTTTCTTTTCTGTAGTCCTTTTTCAATAGGTGCTTGTCGTCCACCGGAGGAACCCTGTCCTGCTCGTCGTCCTCATCAAACTCATACTCGTCCTTGACGGGGGCCGTGGCCTTCTGTGGCTCTGGGTTCTTGGCCTTGTGCTTGAGGCCTTTTTCGAACTCGGAGTCCGTGTTGTTGCCGTCGACTGAACTGGAAGGTGCGAAGGATGGTGCGTCTTCCTCTTCTGAGCTCTCTGTTGGAGGTAGGAAGCGAGAGGTCACAGGCAGGCTCAAAACAGCTCTCCCCAGAATGGCAGAGGAGGGAGGCTCTGCAGATGTGTCTGCGGGAAGGTTCCCACCCTGCCTCTGCAGAGACACTTTGCTCGACTCATGGAAACCAGCCACAGGCAGGAGGAAACCAGACAGAGCTCAGCTGACAGACAGGGCTGGCATCTTAGAATGAAGACTGCAGGCTTCTCGGCAGTGACACACCTGGGCGGGGTCTCCCGCAGTCCAGAAGCTCCTGTAAGCCCCCAGCATCCGAGGAGGAGCTGATCAGAGGGGCAACACTGTGCAAACACCACAGGGCAGCTCCTACCATCCCTGCATAAAAGAACAGGCAGCTCAGGTGGCCGTGACTTACCCGTCGAGCTCTCCTCGCTGGAAGTGTAAGTGCCTTTGCCTAACAGGAGGTTCACCATCGTGGGGGAGTTGGCCACTTTCAGCGGCGTCTCGCCTTTCCTGTTGCTCTGCTGCGGGTTCCCTCCGTACCGCAGCAGCAGCTTCACCACCTACAAGACAGTAACACCCGCGTCAGGGACTGCTGGAGAAGCACAACTCCTCTACCGTTCCGCATAACACGGCAGCCCCTTCCGAGAACCCTGGGGTTCGACCCGAGAGCAGCCCCTCACGGTCTGAGGGTGTGGGAGCCGAGCGCCCAGGGACTGCCTGGCGAGGCTCTGGGTGTGGTGGGCGAGGCTGTGGCTCCTCTGTGGGAAGGGCTGCAGCCGCGGGGGCTCCCGCACCCCTCCTGTGCTCTCCTTCAGAAGGGCTCTGCCTCCTTTGGATTTTTTTCCACCATTTCTCCGTTGCCGCAAGTAGACGACTTCCCAGGAATCTTCTCACGAAGGCTCTCCCCTCCCGCCAACAGTGAGCTCCTCAGCAGAGTGGTGCCGGAGTGGTCGTGGAGGGCTCAGGCAAGAGGTTAGGGAGAAGAGTGTTATGGAAAGGGTTGGGGGGACAGAATAGAGGAAACAAAGACCAAGTTTCTGCAAGCTGCTTTATTTTTTATTTTCATTTACATTAGAAAATAATCTCTCCCTTGCTTGATTTTACAAGGGTAAGGGTGGTCACATGACTGACAGAGACAACCATGGTGACACAGCTCTTTTCAGCTGTTCATCACCAGCAACCTGGATTTCCTATGCCCAGAACAGCAATGCACTGAACTCAAGTACAAATTAAATTTAATCCCAACTTTAGTCCAGTCTGAGATTAGCGCATTCAAAGAATCTGTCATAACGTT
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Task1_train_23068
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This variant affects gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
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Pathogenic; Hereditary spastic paraplegia 7
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GCTGACATTTTGGACGGTGCTCTGATGAGGCCAGGCCGACTGGACCGGCACGTCTTCATTGATCTCCCCACGCTGCAGGTCAGAGCCAGGATCCCAGCCTCTCCCACTCCACCTGGGCCGCCCCCACTCGCTCTGAGTGGTCTGGCCTCTCCTCTAAGACACTTCTTGGTGTGAAGCCTGTCACAGCCCCACAGGTGCTGGCAGTGTCCAGCGTGGCCCCCGCATCGGCTGCACGCCCCCAGCAGACCTGCCCACCGGCTGCACTCACTGCTGTGGCCCCCACATTGGCTGCACGCCCCCTGGCAGACCTGCCCAATGGCTGCACTCACTGCTCGGGGTTTTGCAGTTCTGTTCACCTGCTATTGGTTTTCCTTTTATCCTGGGTATCAGTCTGGTTTTTATAGCAAATCCTTTGAAACAAAATCCAGGAGGAAAAATTGTGGGAAACTTTATTCTTGTGTGGCATCACTTCCTTCCATCCGTAGCGTGGGCTCTGGGGACGTGGACTGTGCAGCTGCCCTGAAATTGGGGTGGGAGTAGAAGTCCTGAGGCCTCTCGCCTGATCCCTCCTCTGTCACAGGGCTCTGGTTGGACGTTACACTTCCTGGCCAAAGGGCCTTTGTTGCTGCCCTGAGGGAGCAGGAGTTCAGCTCATGGAGCGGAGGGTTTGGAGAGAGGGCCTCCGGGTCTGCTGGTGGGTTAATGTTCCATCAGTGCAGCCTGGGGAGCAGGGCTGGGCTCAGCGGCTCTCAGCCGGTGCTCAGTCTCTGTTGGGATGGAGAGTGAAGGGCGGAGCAGAAGCCCTTCCCGCTGGGACACGGCTTCTCCAGGGGACACTGCTTCTCCAGGGGACATGGCTTCTCCAGGGGACACGGCTTCTCCAGGGGACATGGCTTCTCCAGGGGACACTGTTTCTCCAGGGGACACTGTTTCTCCAGGGGATGGCAGCTTCTCCAGGGGACACGGCTTCTCCAGGGGAGGGCAGCTTCTCCAGGGGAGGGCGGCTCCTGGCTTTTTGACTGTGTAAGAAACATTTTACATCAGGATTTAGACGCATGGAACATGTGTGGGAATTGGAAGTTTTGCAGAATAAGCATTTGCTGTGTGTGACGTGCTTCATTAGCTATTCTGCTATAATTTTTTCTTTTTTCTTTTTAATTTTTCTTTCAATTTTTAGAGAAAGGGTGTTGCGCTGTCACCCAGGCTGGAGTGCAGTGCTGCGATCACCACTCACTGCGGCCTCAACCTTCAGGGCTCAAGCTGAGGAGCTAGGACTACTATGGGCGTGCGCCGCCGTGCTGGTTAATTTTTAACAGAGTCTCGCTGTGTTGCCAAGGCTGGTGTCAAACCCCTGGCCTCAAGTGATCCCCACCCACCTCTCCTTCCAAGAGCGTTCTCTTTTTTTTTTTTTTGAGACAGTCTCACTCTATCCCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAACCACCATCTCCCAGGTTCAAGTGATTGTCCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCGTCTTGCCTGGCTAATTTTTGTATTTTAGTAGGGATGGGGTTTCACCGTGTTGGCCAGACTGCCCACTTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGGGCCCGGCCATCCAACAGTGTTCTGTTCGTGTTTAAAATGCTGCTTGTGGCCAGGCATGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAGCCAGGAGTTCGAGACCAGCCTAGCCAACTTTGCGAAACCCCGTCTCTACTAAAAATACAAAACTCAGGCATGATGGCACACACTTGTAATCCCAGCTACTTGGGGACCCCCCCCCCCCACAGACAAACATGCCGCACCTGTGGCAGTAACTAGGCTTGAGCCCGACTGTCTTTCCTCCCCTGGTTCTGGCAGGAGAGGCGGGAGATTTTTGAGCAGCACCTGAAGAGCCTGAAGCTGACCCAGTCCAGCACCTTTTACTCCCAGCGTCTGGCAGAGCTGACACCAGGATTCAGTGGTACGTTCTCAACCCGCAGCCTGGGCAGCGTCACGTCCTGAGGGCAGGTGGTGTCACCTGCGCAAACAGCATCGAGGCCTCCTCTGTGGGGTGGGCGCTGCTCCTTCTCTGGGGGCCTCTGCTCAGTACAAGCCTGGGAGGGAGCTGATGTGTATGTGGGGCAGCAGGAGGTCCAGACGGCACCCGCACTCCGTCCTCCGCCCCGGGGTGGAAAAGCAGACGGTGGTTCCCGGTCTGTGTTGTTTCCAGAGATAGTGGAGTTATGTTGCTTCCACACAGTGACCAGTCATGCCGGCGTTTCCCGTCAGACCCAGAGTCAGACCACGCAGTCCCGGCAAAGCCGCCTCCCTCTGACCCTCACGGTCTCTGTCAAGTTGTAGAAATAGAAATCATACCTCAAGATGCTTTTCCTGCTGTGTGGTTCACATTTTAAAAGTTAATGTCAACAAACCTCCCTTTTATTATGAGATGAATTTGCCCTTTGATTATTCGTTAGGGTCTTTCACTAGAATTTTGTGGTTACTAGAGAGCCTTTAATTTCTTTGCCATCAATGCTCATGAGCTGTTAGGTGGAATCAGCCACAAGATGGGGTGTGGAACTAACTGCCCTTGGGAGGAGAGACGGGCGTCAGGGCGGATGGAGCCTGGCGGTTCTGTGTCTCGTCTGTGGAATGGCCTCAGTGGAACACGGTGCAAGTGCCTGCCGCTCTCCCCACCCCTGCTCCTGGCGCCGGCGCCTGCCGCTCTCCCCAGCTCTGCTCCTGGCGCCAGCTCCCCGTGCCTCTCTCCCAGACGCTCTCACCAGCACTCTTGGTTCTTGGTCTCTTTTCCCTCTTTGTTCTTCCTTTTATTTATTTACTTATTTATTTTGAGACAGAGTCCTACTCTGTCGCCCAGACTGGAGTGCAGTGGCGTGATCTTGGCTCCCCGCAGCCTCCGCCTCCTGGGTTCAACCGATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCTCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGCAATAGGGTTTCACCCTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCATGCCCGGCCATCTTTGTTCTCCCTTGAGGGCCCCTTCCTCCTCTTAAGCCCTGATAGCAGAAACCCACCCACCCACACCGTGGCTGTTTGTGTTGACAGGGGCTGACATCGCCAACATCTGCAATGAGGCTGCGCTGCACGCGGCGCGGGAGGGACACACTTCCGTGCACACTCTCAACTTCGAGTACGCCGTGGAGCGCGTCCTCGCAGGTACAGGGGGCGCGCCCTGGGTGAAGGCCCTCCTTAGCAGGGCTTGAACCCCAGAAATACCCAGGCAGGTATTGAGAGGTGAGGTGGATGGAACCATCACACAGGAAGGAACACACGTTGCGTTTCAGTTCTGCGTAACTCATGTCTTTATGATACCTTGTACTTTTCCTTAGTTTAAAATATCACAGATTTACCTAAGAGTAGACGCTCGTCCAACAGAAATAAAAAATGCCTTGCCAAAGAAAGTGAAAAAATAAAAATAAAAAATGCCCCCCAAAAATAAAAATAATAAAAACTAAAAATGTCTTGCCAGCCTGGGTGTGGTGGGCTCAGCCTAGCCCCAGCCTCATGGGGGCTGAGCTCCAGCCGCTGACTGTGGGCCGGAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGAT
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GCTGACATTTTGGACGGTGCTCTGATGAGGCCAGGCCGACTGGACCGGCACGTCTTCATTGATCTCCCCACGCTGCAGGTCAGAGCCAGGATCCCAGCCTCTCCCACTCCACCTGGGCCGCCCCCACTCGCTCTGAGTGGTCTGGCCTCTCCTCTAAGACACTTCTTGGTGTGAAGCCTGTCACAGCCCCACAGGTGCTGGCAGTGTCCAGCGTGGCCCCCGCATCGGCTGCACGCCCCCAGCAGACCTGCCCACCGGCTGCACTCACTGCTGTGGCCCCCACATTGGCTGCACGCCCCCTGGCAGACCTGCCCAATGGCTGCACTCACTGCTCGGGGTTTTGCAGTTCTGTTCACCTGCTATTGGTTTTCCTTTTATCCTGGGTATCAGTCTGGTTTTTATAGCAAATCCTTTGAAACAAAATCCAGGAGGAAAAATTGTGGGAAACTTTATTCTTGTGTGGCATCACTTCCTTCCATCCGTAGCGTGGGCTCTGGGGACGTGGACTGTGCAGCTGCCCTGAAATTGGGGTGGGAGTAGAAGTCCTGAGGCCTCTCGCCTGATCCCTCCTCTGTCACAGGGCTCTGGTTGGACGTTACACTTCCTGGCCAAAGGGCCTTTGTTGCTGCCCTGAGGGAGCAGGAGTTCAGCTCATGGAGCGGAGGGTTTGGAGAGAGGGCCTCCGGGTCTGCTGGTGGGTTAATGTTCCATCAGTGCAGCCTGGGGAGCAGGGCTGGGCTCAGCGGCTCTCAGCCGGTGCTCAGTCTCTGTTGGGATGGAGAGTGAAGGGCGGAGCAGAAGCCCTTCCCGCTGGGACACGGCTTCTCCAGGGGACACTGCTTCTCCAGGGGACATGGCTTCTCCAGGGGACACGGCTTCTCCAGGGGACATGGCTTCTCCAGGGGACACTGTTTCTCCAGGGGACACTGTTTCTCCAGGGGATGGCAGCTTCTCCAGGGGACACGGCTTCTCCAGGGGAGGGCAGCTTCTCCAGGGGAGGGCGGCTCCTGGCTTTTTGACTGTGTAAGAAACATTTTACATCAGGATTTAGACGCATGGAACATGTGTGGGAATTGGAAGTTTTGCAGAATAAGCATTTGCTGTGTGTGACGTGCTTCATTAGCTATTCTGCTATAATTTTTTCTTTTTTCTTTTTAATTTTTCTTTCAATTTTTAGAGAAAGGGTGTTGCGCTGTCACCCAGGCTGGAGTGCAGTGCTGCGATCACCACTCACTGCGGCCTCAACCTTCAGGGCTCAAGCTGAGGAGCTAGGACTACTATGGGCGTGCGCCGCCGTGCTGGTTAATTTTTAACAGAGTCTCGCTGTGTTGCCAAGGCTGGTGTCAAACCCCTGGCCTCAAGTGATCCCCACCCACCTCTCCTTCCAAGAGCGTTCTCTTTTTTTTTTTTTTGAGACAGTCTCACTCTATCCCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAACCACCATCTCCCAGGTTCAAGTGATTGTCCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCGTCTTGCCTGGCTAATTTTTGTATTTTAGTAGGGATGGGGTTTCACCGTGTTGGCCAGACTGCCCACTTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGGGCCCGGCCATCCAACAGTGTTCTGTTCGTGTTTAAAATGCTGCTTGTGGCCAGGCATGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAGCCAGGAGTTCGAGACCAGCCTAGCCAACTTTGCGAAACCCCGTCTCTACTAAAAATACAAAACTCAGGCATGATGGCACACACTTGTAATCCCAGCTACTTGGGGACCCCCCCCCCCCACAGACAAACATGCCGCACCTGTGGCAGTAACTAGGCTTGAGCCCGACTGTCTTTCCTCCCCTGGTTCTGGCAGGAGAGGCGGGAGATTTTTGAGCAGCACCTGAAGAGCCTGAAGCTGACCCAGTCCAGCACCTTTTACTCCCAGCGTCTGGCAGAGCCGACACCAGGATTCAGTGGTACGTTCTCAACCCGCAGCCTGGGCAGCGTCACGTCCTGAGGGCAGGTGGTGTCACCTGCGCAAACAGCATCGAGGCCTCCTCTGTGGGGTGGGCGCTGCTCCTTCTCTGGGGGCCTCTGCTCAGTACAAGCCTGGGAGGGAGCTGATGTGTATGTGGGGCAGCAGGAGGTCCAGACGGCACCCGCACTCCGTCCTCCGCCCCGGGGTGGAAAAGCAGACGGTGGTTCCCGGTCTGTGTTGTTTCCAGAGATAGTGGAGTTATGTTGCTTCCACACAGTGACCAGTCATGCCGGCGTTTCCCGTCAGACCCAGAGTCAGACCACGCAGTCCCGGCAAAGCCGCCTCCCTCTGACCCTCACGGTCTCTGTCAAGTTGTAGAAATAGAAATCATACCTCAAGATGCTTTTCCTGCTGTGTGGTTCACATTTTAAAAGTTAATGTCAACAAACCTCCCTTTTATTATGAGATGAATTTGCCCTTTGATTATTCGTTAGGGTCTTTCACTAGAATTTTGTGGTTACTAGAGAGCCTTTAATTTCTTTGCCATCAATGCTCATGAGCTGTTAGGTGGAATCAGCCACAAGATGGGGTGTGGAACTAACTGCCCTTGGGAGGAGAGACGGGCGTCAGGGCGGATGGAGCCTGGCGGTTCTGTGTCTCGTCTGTGGAATGGCCTCAGTGGAACACGGTGCAAGTGCCTGCCGCTCTCCCCACCCCTGCTCCTGGCGCCGGCGCCTGCCGCTCTCCCCAGCTCTGCTCCTGGCGCCAGCTCCCCGTGCCTCTCTCCCAGACGCTCTCACCAGCACTCTTGGTTCTTGGTCTCTTTTCCCTCTTTGTTCTTCCTTTTATTTATTTACTTATTTATTTTGAGACAGAGTCCTACTCTGTCGCCCAGACTGGAGTGCAGTGGCGTGATCTTGGCTCCCCGCAGCCTCCGCCTCCTGGGTTCAACCGATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCTCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGCAATAGGGTTTCACCCTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCATGCCCGGCCATCTTTGTTCTCCCTTGAGGGCCCCTTCCTCCTCTTAAGCCCTGATAGCAGAAACCCACCCACCCACACCGTGGCTGTTTGTGTTGACAGGGGCTGACATCGCCAACATCTGCAATGAGGCTGCGCTGCACGCGGCGCGGGAGGGACACACTTCCGTGCACACTCTCAACTTCGAGTACGCCGTGGAGCGCGTCCTCGCAGGTACAGGGGGCGCGCCCTGGGTGAAGGCCCTCCTTAGCAGGGCTTGAACCCCAGAAATACCCAGGCAGGTATTGAGAGGTGAGGTGGATGGAACCATCACACAGGAAGGAACACACGTTGCGTTTCAGTTCTGCGTAACTCATGTCTTTATGATACCTTGTACTTTTCCTTAGTTTAAAATATCACAGATTTACCTAAGAGTAGACGCTCGTCCAACAGAAATAAAAAATGCCTTGCCAAAGAAAGTGAAAAAATAAAAATAAAAAATGCCCCCCAAAAATAAAAATAATAAAAACTAAAAATGTCTTGCCAGCCTGGGTGTGGTGGGCTCAGCCTAGCCCCAGCCTCATGGGGGCTGAGCTCCAGCCGCTGACTGTGGGCCGGAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGAT
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Task1_train_23069
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Consider a variant on Chromosome 16 in gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin). Determine its clinical classification and disease relevance.
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Pathogenic; Hereditary spastic paraplegia 7
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GAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATCTCATGGAATGGAGTTCAGACCCGCACTGTCAGTGTGAGACAGGTTGAACGTTTGAAAAGGGAAGTGGTTCTTGCCCCAGGTGTTTGAGGAGCACGAGCCTCCTTTGCGAGCTATCCCTGCGAGAACCGAGTTCCTCACCCTCAATTCGAGTGAATTCCTAGCACGAACACGCCTCTTGCAGGTCCCCAGGGCTTCAGCTTGGGAAAGCAGTGGGTTCCTGCAGAGGAGTGGGGCAGCTGCTGTGCCAGACACTGCAAAACACACCTGGCTTCTCTCCGACAGCCCTGCGGGTCGAGAGGACTGGCGCTGCCTGTGTCTTACTGAAATTTATTTTCGTGTAACCATTTACTTTTATGTGGAAATCGAAAAGCTTTTGATAATAGTAGCAAAGCAGGAAGGACTGAGTGGGAACCACAAGCCAGTTGAAAGAAAATACATGACGTACTTGAGTGCTCAGGACCACGAGCTGATTCAAGTTGTACAGAATGGACACTTACAGATGTGTGGAAAATCTGAGACAGGAAATGAAGCCTCACCAGTAAGCTGAACAGGGGAGATTTAATGCAAACATTTGTCCCTGGCTGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGCTGAGGCAGGAGGGTTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAATACAGCAAGACCCCATCTCTTAAAAGAAAAGAATAAAGAGTATTAGCCAGGCATGGTGGTGGAGCACACCTCTGGTCTCAGCTACTCAGGAGGCTGCAGCAGGAGGATTGCTTGAACCTGGGAGGTTGAAGCAACAGTGAGCCGTGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTGACAGAAAAAAAGCCTTGTCCCTGAGGCAAAAAGCTTCTGAAGGGGTGAGTAGAAGCCATAAGGATCCAGAAAGTGATGGGGATGGGAGCTGCGCCTCCAGGTCTGAGGGGAGAGGGAAAGTAAGCAGGAGGCCCGTAACTCAGAGGAGGCCTCTGCCCATCCTGCCAGGGAGAAAGTCAAAAGCTGCTGTTCTGTGACCCTTGCCCCGACCCTGTGGCACCCCCCCAACCATGGGGCAGGAGGAGACACTCCTCAGAGGGTTGCACTTGTTCCTAAAAGCAGCAGGAGCTATTTCGATGATTGCAACATTTATAAAAGAAGAAATCACGACCTCCTTCAACAGCCCTTTGACCTGAAGAGTGTCGTTTTGAGTTGGGGTGTCCAGAGCCGCAGCTGCAGCTCCAAGAGGCAGATGTGCAGAGAGAGGCTTGCTTTGACCACACGGGGCAGGAGCAGGGCCCAGCCAGGGAGAGGCCGGGGTCTCAGCTCACCCCCCCGTCATTCTTTTTTGTTTGTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGCCTGGAGTGCAGTGGCATGATCTTGCCCTACTGTAACCTCCGTCTCTCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCATCACACCTAGCTAATTTTTCTATTTTTAGTAGGGACGGGGTTTCACCATATTGGTCGGGCTGGTCTCGAACTCCTGTCCTCAGGTCATCCGCCCGCCTTGGCCTCCCACAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAACTCATACCCCGGCATTCTTTCAGGGACTGCCAAAAAGAGCAAGATCCTGTCCAAGGAAGAACAGAAAGTGGTTGCGTTTCATGAGTCGGGCCACGCCTTGGTGGGCTGGATGCTGGAGCACACGGAGGCCGTGATGAAGGTGGGTCTTGGCAGGTGCCGGCTCCACGGGCCTTGGCCAAAGGTGGGTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGGTCATGTGAGAGGAAAGCCTGCCACTGTCATGATCCATGGAGCAGGGTGGGTGGCGACTGATGGGCGGGAACTCGGACGTGGGAGGCAGGAGTGGGCTGTGTCACATCGGAGCATGGTGCTGCTACTGGGGTGACTCGTGGAAGGTTACACCATGCAATGGGGTTTCGCTGCCTTTGCCTGTCCACCCCAAATGACTCCTAACATTGGAAAGAAGTGAGTTGAGTGTACATTTAAAAAATACTATTCTAGGCTGGGCATGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAGGGCAAAACTGTCTCTACTTCAAACAAACAAACAAAAAACTACTCTTGTAGGCAGCTGTGAACTCGATGGACATTTATTCTTACCAAATGGTGATGTTACAGCTTCTCTAAGACGTGGCTCCACCACCGGGAGTCCGAGTGCTGCCAAGAGGAGGTCTCTACTCGGAACGCAGGTGCCGTCTTTACAGTGGAGCCCCAGGAAGCCGTGCAGGTTTGAGGCTCACCTGAGAAGGCGGCAGTGCTGTGTTCCTACCTCAGGGTTCACTGCAAACAATGCATACGCTGTAGCAGTTGCCAGCTTGGTTTGTCAGTGCTGGTCTCCGTGATTGGTTCTCAGGTGTGAGTTGTAGCAAAGTTGCGTGTTAATCAGAGAGCGTCCTGCCCATCCCAGGGTCTCAGCAGGGCTGAGGCAGCGTTTGGGGACCAGATCCGTGCTGCTCCTTGGCGATGTGCACCACAGTCATGGGACCAGAGCTAGGCCCACTGTGGGGCGAGTGGACACTCAGCTGGGGGTCCCATTTATGGGACACTAAAAAACTCAGCAGTGAACACGACGTTTTAACACGGTATGTCAAGAAATCAAAATTAATGCAGGGACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGTGAAACCCCATCTCTACCAAAAATACAAAAGAATTAGCTGGGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGC
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GAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATCTCATGGAATGGAGTTCAGACCCGCACTGTCAGTGTGAGACAGGTTGAACGTTTGAAAAGGGAAGTGGTTCTTGCCCCAGGTGTTTGAGGAGCACGAGCCTCCTTTGCGAGCTATCCCTGCGAGAACCGAGTTCCTCACCCTCAATTCGAGTGAATTCCTAGCACGAACACGCCTCTTGCAGGTCCCCAGGGCTTCAGCTTGGGAAAGCAGTGGGTTCCTGCAGAGGAGTGGGGCAGCTGCTGTGCCAGACACTGCAAAACACACCTGGCTTCTCTCCGACAGCCCTGCGGGTCGAGAGGACTGGCGCTGCCTGTGTCTTACTGAAATTTATTTTCGTGTAACCATTTACTTTTATGTGGAAATCGAAAAGCTTTTGATAATAGTAGCAAAGCAGGAAGGACTGAGTGGGAACCACAAGCCAGTTGAAAGAAAATACATGACGTACTTGAGTGCTCAGGACCACGAGCTGATTCAAGTTGTACAGAATGGACACTTACAGATGTGTGGAAAATCTGAGACAGGAAATGAAGCCTCACCAGTAAGCTGAACAGGGGAGATTTAATGCAAACATTTGTCCCTGGCTGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGCTGAGGCAGGAGGGTTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAATACAGCAAGACCCCATCTCTTAAAAGAAAAGAATAAAGAGTATTAGCCAGGCATGGTGGTGGAGCACACCTCTGGTCTCAGCTACTCAGGAGGCTGCAGCAGGAGGATTGCTTGAACCTGGGAGGTTGAAGCAACAGTGAGCCGTGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTGACAGAAAAAAAGCCTTGTCCCTGAGGCAAAAAGCTTCTGAAGGGGTGAGTAGAAGCCATAAGGATCCAGAAAGTGATGGGGATGGGAGCTGCGCCTCCAGGTCTGAGGGGAGAGGGAAAGTAAGCAGGAGGCCCGTAACTCAGAGGAGGCCTCTGCCCATCCTGCCAGGGAGAAAGTCAAAAGCTGCTGTTCTGTGACCCTTGCCCCGACCCTGTGGCACCCCCCCAACCATGGGGCAGGAGGAGACACTCCTCAGAGGGTTGCACTTGTTCCTAAAAGCAGCAGGAGCTATTTCGATGATTGCAACATTTATAAAAGAAGAAATCACGACCTCCTTCAACAGCCCTTTGACCTGAAGAGTGTCGTTTTGAGTTGGGGTGTCCAGAGCCGCAGCTGCAGCTCCAAGAGGCAGATGTGCAGAGAGAGGCTTGCTTTGACCACACGGGGCAGGAGCAGGGCCCAGCCAGGGAGAGGCCGGGGTCTCAGCTCACCCCCCCGTCATTCTTTTTTGTTTGTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGCCTGGAGTGCAGTGGCATGATCTTGCCCTACTGTAACCTCCGTCTCTCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCATCACACCTAGCTAATTTTTCTATTTTTAGTAGGGACGGGGTTTCACCATATTGGTCGGGCTGGTCTCGAACTCCTGTCCTCAGGTCATCCGCCCGCCTTGGCCTCCCACAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAACTCATACCCCGGCATTCTTTCAGGGACTGCCAAAAAGAGCAAGATCCTGTCCAAGGAAGAACAGAAAGTGGTTGTGTTTCATGAGTCGGGCCACGCCTTGGTGGGCTGGATGCTGGAGCACACGGAGGCCGTGATGAAGGTGGGTCTTGGCAGGTGCCGGCTCCACGGGCCTTGGCCAAAGGTGGGTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGGTCATGTGAGAGGAAAGCCTGCCACTGTCATGATCCATGGAGCAGGGTGGGTGGCGACTGATGGGCGGGAACTCGGACGTGGGAGGCAGGAGTGGGCTGTGTCACATCGGAGCATGGTGCTGCTACTGGGGTGACTCGTGGAAGGTTACACCATGCAATGGGGTTTCGCTGCCTTTGCCTGTCCACCCCAAATGACTCCTAACATTGGAAAGAAGTGAGTTGAGTGTACATTTAAAAAATACTATTCTAGGCTGGGCATGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAGGGCAAAACTGTCTCTACTTCAAACAAACAAACAAAAAACTACTCTTGTAGGCAGCTGTGAACTCGATGGACATTTATTCTTACCAAATGGTGATGTTACAGCTTCTCTAAGACGTGGCTCCACCACCGGGAGTCCGAGTGCTGCCAAGAGGAGGTCTCTACTCGGAACGCAGGTGCCGTCTTTACAGTGGAGCCCCAGGAAGCCGTGCAGGTTTGAGGCTCACCTGAGAAGGCGGCAGTGCTGTGTTCCTACCTCAGGGTTCACTGCAAACAATGCATACGCTGTAGCAGTTGCCAGCTTGGTTTGTCAGTGCTGGTCTCCGTGATTGGTTCTCAGGTGTGAGTTGTAGCAAAGTTGCGTGTTAATCAGAGAGCGTCCTGCCCATCCCAGGGTCTCAGCAGGGCTGAGGCAGCGTTTGGGGACCAGATCCGTGCTGCTCCTTGGCGATGTGCACCACAGTCATGGGACCAGAGCTAGGCCCACTGTGGGGCGAGTGGACACTCAGCTGGGGGTCCCATTTATGGGACACTAAAAAACTCAGCAGTGAACACGACGTTTTAACACGGTATGTCAAGAAATCAAAATTAATGCAGGGACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGTGAAACCCCATCTCTACCAAAAATACAAAAGAATTAGCTGGGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGC
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Task1_train_23070
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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.
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Pathogenic; Hereditary spastic paraplegia
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GAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATCTCATGGAATGGAGTTCAGACCCGCACTGTCAGTGTGAGACAGGTTGAACGTTTGAAAAGGGAAGTGGTTCTTGCCCCAGGTGTTTGAGGAGCACGAGCCTCCTTTGCGAGCTATCCCTGCGAGAACCGAGTTCCTCACCCTCAATTCGAGTGAATTCCTAGCACGAACACGCCTCTTGCAGGTCCCCAGGGCTTCAGCTTGGGAAAGCAGTGGGTTCCTGCAGAGGAGTGGGGCAGCTGCTGTGCCAGACACTGCAAAACACACCTGGCTTCTCTCCGACAGCCCTGCGGGTCGAGAGGACTGGCGCTGCCTGTGTCTTACTGAAATTTATTTTCGTGTAACCATTTACTTTTATGTGGAAATCGAAAAGCTTTTGATAATAGTAGCAAAGCAGGAAGGACTGAGTGGGAACCACAAGCCAGTTGAAAGAAAATACATGACGTACTTGAGTGCTCAGGACCACGAGCTGATTCAAGTTGTACAGAATGGACACTTACAGATGTGTGGAAAATCTGAGACAGGAAATGAAGCCTCACCAGTAAGCTGAACAGGGGAGATTTAATGCAAACATTTGTCCCTGGCTGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGCTGAGGCAGGAGGGTTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAATACAGCAAGACCCCATCTCTTAAAAGAAAAGAATAAAGAGTATTAGCCAGGCATGGTGGTGGAGCACACCTCTGGTCTCAGCTACTCAGGAGGCTGCAGCAGGAGGATTGCTTGAACCTGGGAGGTTGAAGCAACAGTGAGCCGTGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTGACAGAAAAAAAGCCTTGTCCCTGAGGCAAAAAGCTTCTGAAGGGGTGAGTAGAAGCCATAAGGATCCAGAAAGTGATGGGGATGGGAGCTGCGCCTCCAGGTCTGAGGGGAGAGGGAAAGTAAGCAGGAGGCCCGTAACTCAGAGGAGGCCTCTGCCCATCCTGCCAGGGAGAAAGTCAAAAGCTGCTGTTCTGTGACCCTTGCCCCGACCCTGTGGCACCCCCCCAACCATGGGGCAGGAGGAGACACTCCTCAGAGGGTTGCACTTGTTCCTAAAAGCAGCAGGAGCTATTTCGATGATTGCAACATTTATAAAAGAAGAAATCACGACCTCCTTCAACAGCCCTTTGACCTGAAGAGTGTCGTTTTGAGTTGGGGTGTCCAGAGCCGCAGCTGCAGCTCCAAGAGGCAGATGTGCAGAGAGAGGCTTGCTTTGACCACACGGGGCAGGAGCAGGGCCCAGCCAGGGAGAGGCCGGGGTCTCAGCTCACCCCCCCGTCATTCTTTTTTGTTTGTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGCCTGGAGTGCAGTGGCATGATCTTGCCCTACTGTAACCTCCGTCTCTCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCATCACACCTAGCTAATTTTTCTATTTTTAGTAGGGACGGGGTTTCACCATATTGGTCGGGCTGGTCTCGAACTCCTGTCCTCAGGTCATCCGCCCGCCTTGGCCTCCCACAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAACTCATACCCCGGCATTCTTTCAGGGACTGCCAAAAAGAGCAAGATCCTGTCCAAGGAAGAACAGAAAGTGGTTGCGTTTCATGAGTCGGGCCACGCCTTGGTGGGCTGGATGCTGGAGCACACGGAGGCCGTGATGAAGGTGGGTCTTGGCAGGTGCCGGCTCCACGGGCCTTGGCCAAAGGTGGGTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGGTCATGTGAGAGGAAAGCCTGCCACTGTCATGATCCATGGAGCAGGGTGGGTGGCGACTGATGGGCGGGAACTCGGACGTGGGAGGCAGGAGTGGGCTGTGTCACATCGGAGCATGGTGCTGCTACTGGGGTGACTCGTGGAAGGTTACACCATGCAATGGGGTTTCGCTGCCTTTGCCTGTCCACCCCAAATGACTCCTAACATTGGAAAGAAGTGAGTTGAGTGTACATTTAAAAAATACTATTCTAGGCTGGGCATGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAGGGCAAAACTGTCTCTACTTCAAACAAACAAACAAAAAACTACTCTTGTAGGCAGCTGTGAACTCGATGGACATTTATTCTTACCAAATGGTGATGTTACAGCTTCTCTAAGACGTGGCTCCACCACCGGGAGTCCGAGTGCTGCCAAGAGGAGGTCTCTACTCGGAACGCAGGTGCCGTCTTTACAGTGGAGCCCCAGGAAGCCGTGCAGGTTTGAGGCTCACCTGAGAAGGCGGCAGTGCTGTGTTCCTACCTCAGGGTTCACTGCAAACAATGCATACGCTGTAGCAGTTGCCAGCTTGGTTTGTCAGTGCTGGTCTCCGTGATTGGTTCTCAGGTGTGAGTTGTAGCAAAGTTGCGTGTTAATCAGAGAGCGTCCTGCCCATCCCAGGGTCTCAGCAGGGCTGAGGCAGCGTTTGGGGACCAGATCCGTGCTGCTCCTTGGCGATGTGCACCACAGTCATGGGACCAGAGCTAGGCCCACTGTGGGGCGAGTGGACACTCAGCTGGGGGTCCCATTTATGGGACACTAAAAAACTCAGCAGTGAACACGACGTTTTAACACGGTATGTCAAGAAATCAAAATTAATGCAGGGACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGTGAAACCCCATCTCTACCAAAAATACAAAAGAATTAGCTGGGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGC
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GAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATCTCATGGAATGGAGTTCAGACCCGCACTGTCAGTGTGAGACAGGTTGAACGTTTGAAAAGGGAAGTGGTTCTTGCCCCAGGTGTTTGAGGAGCACGAGCCTCCTTTGCGAGCTATCCCTGCGAGAACCGAGTTCCTCACCCTCAATTCGAGTGAATTCCTAGCACGAACACGCCTCTTGCAGGTCCCCAGGGCTTCAGCTTGGGAAAGCAGTGGGTTCCTGCAGAGGAGTGGGGCAGCTGCTGTGCCAGACACTGCAAAACACACCTGGCTTCTCTCCGACAGCCCTGCGGGTCGAGAGGACTGGCGCTGCCTGTGTCTTACTGAAATTTATTTTCGTGTAACCATTTACTTTTATGTGGAAATCGAAAAGCTTTTGATAATAGTAGCAAAGCAGGAAGGACTGAGTGGGAACCACAAGCCAGTTGAAAGAAAATACATGACGTACTTGAGTGCTCAGGACCACGAGCTGATTCAAGTTGTACAGAATGGACACTTACAGATGTGTGGAAAATCTGAGACAGGAAATGAAGCCTCACCAGTAAGCTGAACAGGGGAGATTTAATGCAAACATTTGTCCCTGGCTGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGCTGAGGCAGGAGGGTTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAATACAGCAAGACCCCATCTCTTAAAAGAAAAGAATAAAGAGTATTAGCCAGGCATGGTGGTGGAGCACACCTCTGGTCTCAGCTACTCAGGAGGCTGCAGCAGGAGGATTGCTTGAACCTGGGAGGTTGAAGCAACAGTGAGCCGTGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTGACAGAAAAAAAGCCTTGTCCCTGAGGCAAAAAGCTTCTGAAGGGGTGAGTAGAAGCCATAAGGATCCAGAAAGTGATGGGGATGGGAGCTGCGCCTCCAGGTCTGAGGGGAGAGGGAAAGTAAGCAGGAGGCCCGTAACTCAGAGGAGGCCTCTGCCCATCCTGCCAGGGAGAAAGTCAAAAGCTGCTGTTCTGTGACCCTTGCCCCGACCCTGTGGCACCCCCCCAACCATGGGGCAGGAGGAGACACTCCTCAGAGGGTTGCACTTGTTCCTAAAAGCAGCAGGAGCTATTTCGATGATTGCAACATTTATAAAAGAAGAAATCACGACCTCCTTCAACAGCCCTTTGACCTGAAGAGTGTCGTTTTGAGTTGGGGTGTCCAGAGCCGCAGCTGCAGCTCCAAGAGGCAGATGTGCAGAGAGAGGCTTGCTTTGACCACACGGGGCAGGAGCAGGGCCCAGCCAGGGAGAGGCCGGGGTCTCAGCTCACCCCCCCGTCATTCTTTTTTGTTTGTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGCCTGGAGTGCAGTGGCATGATCTTGCCCTACTGTAACCTCCGTCTCTCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCATCACACCTAGCTAATTTTTCTATTTTTAGTAGGGACGGGGTTTCACCATATTGGTCGGGCTGGTCTCGAACTCCTGTCCTCAGGTCATCCGCCCGCCTTGGCCTCCCACAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAACTCATACCCCGGCATTCTTTCAGGGACTGCCAAAAAGAGCAAGATCCTGTCCAAGGAAGAACAGAAAGTGGTTGTGTTTCATGAGTCGGGCCACGCCTTGGTGGGCTGGATGCTGGAGCACACGGAGGCCGTGATGAAGGTGGGTCTTGGCAGGTGCCGGCTCCACGGGCCTTGGCCAAAGGTGGGTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGGTCATGTGAGAGGAAAGCCTGCCACTGTCATGATCCATGGAGCAGGGTGGGTGGCGACTGATGGGCGGGAACTCGGACGTGGGAGGCAGGAGTGGGCTGTGTCACATCGGAGCATGGTGCTGCTACTGGGGTGACTCGTGGAAGGTTACACCATGCAATGGGGTTTCGCTGCCTTTGCCTGTCCACCCCAAATGACTCCTAACATTGGAAAGAAGTGAGTTGAGTGTACATTTAAAAAATACTATTCTAGGCTGGGCATGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAGGGCAAAACTGTCTCTACTTCAAACAAACAAACAAAAAACTACTCTTGTAGGCAGCTGTGAACTCGATGGACATTTATTCTTACCAAATGGTGATGTTACAGCTTCTCTAAGACGTGGCTCCACCACCGGGAGTCCGAGTGCTGCCAAGAGGAGGTCTCTACTCGGAACGCAGGTGCCGTCTTTACAGTGGAGCCCCAGGAAGCCGTGCAGGTTTGAGGCTCACCTGAGAAGGCGGCAGTGCTGTGTTCCTACCTCAGGGTTCACTGCAAACAATGCATACGCTGTAGCAGTTGCCAGCTTGGTTTGTCAGTGCTGGTCTCCGTGATTGGTTCTCAGGTGTGAGTTGTAGCAAAGTTGCGTGTTAATCAGAGAGCGTCCTGCCCATCCCAGGGTCTCAGCAGGGCTGAGGCAGCGTTTGGGGACCAGATCCGTGCTGCTCCTTGGCGATGTGCACCACAGTCATGGGACCAGAGCTAGGCCCACTGTGGGGCGAGTGGACACTCAGCTGGGGGTCCCATTTATGGGACACTAAAAAACTCAGCAGTGAACACGACGTTTTAACACGGTATGTCAAGAAATCAAAATTAATGCAGGGACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGTGAAACCCCATCTCTACCAAAAATACAAAAGAATTAGCTGGGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGC
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Task1_train_23071
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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?
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Pathogenic; Inborn genetic diseases
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GAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATCTCATGGAATGGAGTTCAGACCCGCACTGTCAGTGTGAGACAGGTTGAACGTTTGAAAAGGGAAGTGGTTCTTGCCCCAGGTGTTTGAGGAGCACGAGCCTCCTTTGCGAGCTATCCCTGCGAGAACCGAGTTCCTCACCCTCAATTCGAGTGAATTCCTAGCACGAACACGCCTCTTGCAGGTCCCCAGGGCTTCAGCTTGGGAAAGCAGTGGGTTCCTGCAGAGGAGTGGGGCAGCTGCTGTGCCAGACACTGCAAAACACACCTGGCTTCTCTCCGACAGCCCTGCGGGTCGAGAGGACTGGCGCTGCCTGTGTCTTACTGAAATTTATTTTCGTGTAACCATTTACTTTTATGTGGAAATCGAAAAGCTTTTGATAATAGTAGCAAAGCAGGAAGGACTGAGTGGGAACCACAAGCCAGTTGAAAGAAAATACATGACGTACTTGAGTGCTCAGGACCACGAGCTGATTCAAGTTGTACAGAATGGACACTTACAGATGTGTGGAAAATCTGAGACAGGAAATGAAGCCTCACCAGTAAGCTGAACAGGGGAGATTTAATGCAAACATTTGTCCCTGGCTGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGCTGAGGCAGGAGGGTTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAATACAGCAAGACCCCATCTCTTAAAAGAAAAGAATAAAGAGTATTAGCCAGGCATGGTGGTGGAGCACACCTCTGGTCTCAGCTACTCAGGAGGCTGCAGCAGGAGGATTGCTTGAACCTGGGAGGTTGAAGCAACAGTGAGCCGTGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTGACAGAAAAAAAGCCTTGTCCCTGAGGCAAAAAGCTTCTGAAGGGGTGAGTAGAAGCCATAAGGATCCAGAAAGTGATGGGGATGGGAGCTGCGCCTCCAGGTCTGAGGGGAGAGGGAAAGTAAGCAGGAGGCCCGTAACTCAGAGGAGGCCTCTGCCCATCCTGCCAGGGAGAAAGTCAAAAGCTGCTGTTCTGTGACCCTTGCCCCGACCCTGTGGCACCCCCCCAACCATGGGGCAGGAGGAGACACTCCTCAGAGGGTTGCACTTGTTCCTAAAAGCAGCAGGAGCTATTTCGATGATTGCAACATTTATAAAAGAAGAAATCACGACCTCCTTCAACAGCCCTTTGACCTGAAGAGTGTCGTTTTGAGTTGGGGTGTCCAGAGCCGCAGCTGCAGCTCCAAGAGGCAGATGTGCAGAGAGAGGCTTGCTTTGACCACACGGGGCAGGAGCAGGGCCCAGCCAGGGAGAGGCCGGGGTCTCAGCTCACCCCCCCGTCATTCTTTTTTGTTTGTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGCCTGGAGTGCAGTGGCATGATCTTGCCCTACTGTAACCTCCGTCTCTCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCATCACACCTAGCTAATTTTTCTATTTTTAGTAGGGACGGGGTTTCACCATATTGGTCGGGCTGGTCTCGAACTCCTGTCCTCAGGTCATCCGCCCGCCTTGGCCTCCCACAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAACTCATACCCCGGCATTCTTTCAGGGACTGCCAAAAAGAGCAAGATCCTGTCCAAGGAAGAACAGAAAGTGGTTGCGTTTCATGAGTCGGGCCACGCCTTGGTGGGCTGGATGCTGGAGCACACGGAGGCCGTGATGAAGGTGGGTCTTGGCAGGTGCCGGCTCCACGGGCCTTGGCCAAAGGTGGGTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGGTCATGTGAGAGGAAAGCCTGCCACTGTCATGATCCATGGAGCAGGGTGGGTGGCGACTGATGGGCGGGAACTCGGACGTGGGAGGCAGGAGTGGGCTGTGTCACATCGGAGCATGGTGCTGCTACTGGGGTGACTCGTGGAAGGTTACACCATGCAATGGGGTTTCGCTGCCTTTGCCTGTCCACCCCAAATGACTCCTAACATTGGAAAGAAGTGAGTTGAGTGTACATTTAAAAAATACTATTCTAGGCTGGGCATGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAGGGCAAAACTGTCTCTACTTCAAACAAACAAACAAAAAACTACTCTTGTAGGCAGCTGTGAACTCGATGGACATTTATTCTTACCAAATGGTGATGTTACAGCTTCTCTAAGACGTGGCTCCACCACCGGGAGTCCGAGTGCTGCCAAGAGGAGGTCTCTACTCGGAACGCAGGTGCCGTCTTTACAGTGGAGCCCCAGGAAGCCGTGCAGGTTTGAGGCTCACCTGAGAAGGCGGCAGTGCTGTGTTCCTACCTCAGGGTTCACTGCAAACAATGCATACGCTGTAGCAGTTGCCAGCTTGGTTTGTCAGTGCTGGTCTCCGTGATTGGTTCTCAGGTGTGAGTTGTAGCAAAGTTGCGTGTTAATCAGAGAGCGTCCTGCCCATCCCAGGGTCTCAGCAGGGCTGAGGCAGCGTTTGGGGACCAGATCCGTGCTGCTCCTTGGCGATGTGCACCACAGTCATGGGACCAGAGCTAGGCCCACTGTGGGGCGAGTGGACACTCAGCTGGGGGTCCCATTTATGGGACACTAAAAAACTCAGCAGTGAACACGACGTTTTAACACGGTATGTCAAGAAATCAAAATTAATGCAGGGACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGTGAAACCCCATCTCTACCAAAAATACAAAAGAATTAGCTGGGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGC
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GAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATCTCATGGAATGGAGTTCAGACCCGCACTGTCAGTGTGAGACAGGTTGAACGTTTGAAAAGGGAAGTGGTTCTTGCCCCAGGTGTTTGAGGAGCACGAGCCTCCTTTGCGAGCTATCCCTGCGAGAACCGAGTTCCTCACCCTCAATTCGAGTGAATTCCTAGCACGAACACGCCTCTTGCAGGTCCCCAGGGCTTCAGCTTGGGAAAGCAGTGGGTTCCTGCAGAGGAGTGGGGCAGCTGCTGTGCCAGACACTGCAAAACACACCTGGCTTCTCTCCGACAGCCCTGCGGGTCGAGAGGACTGGCGCTGCCTGTGTCTTACTGAAATTTATTTTCGTGTAACCATTTACTTTTATGTGGAAATCGAAAAGCTTTTGATAATAGTAGCAAAGCAGGAAGGACTGAGTGGGAACCACAAGCCAGTTGAAAGAAAATACATGACGTACTTGAGTGCTCAGGACCACGAGCTGATTCAAGTTGTACAGAATGGACACTTACAGATGTGTGGAAAATCTGAGACAGGAAATGAAGCCTCACCAGTAAGCTGAACAGGGGAGATTTAATGCAAACATTTGTCCCTGGCTGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGCTGAGGCAGGAGGGTTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAATACAGCAAGACCCCATCTCTTAAAAGAAAAGAATAAAGAGTATTAGCCAGGCATGGTGGTGGAGCACACCTCTGGTCTCAGCTACTCAGGAGGCTGCAGCAGGAGGATTGCTTGAACCTGGGAGGTTGAAGCAACAGTGAGCCGTGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTGACAGAAAAAAAGCCTTGTCCCTGAGGCAAAAAGCTTCTGAAGGGGTGAGTAGAAGCCATAAGGATCCAGAAAGTGATGGGGATGGGAGCTGCGCCTCCAGGTCTGAGGGGAGAGGGAAAGTAAGCAGGAGGCCCGTAACTCAGAGGAGGCCTCTGCCCATCCTGCCAGGGAGAAAGTCAAAAGCTGCTGTTCTGTGACCCTTGCCCCGACCCTGTGGCACCCCCCCAACCATGGGGCAGGAGGAGACACTCCTCAGAGGGTTGCACTTGTTCCTAAAAGCAGCAGGAGCTATTTCGATGATTGCAACATTTATAAAAGAAGAAATCACGACCTCCTTCAACAGCCCTTTGACCTGAAGAGTGTCGTTTTGAGTTGGGGTGTCCAGAGCCGCAGCTGCAGCTCCAAGAGGCAGATGTGCAGAGAGAGGCTTGCTTTGACCACACGGGGCAGGAGCAGGGCCCAGCCAGGGAGAGGCCGGGGTCTCAGCTCACCCCCCCGTCATTCTTTTTTGTTTGTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGCCTGGAGTGCAGTGGCATGATCTTGCCCTACTGTAACCTCCGTCTCTCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCATCACACCTAGCTAATTTTTCTATTTTTAGTAGGGACGGGGTTTCACCATATTGGTCGGGCTGGTCTCGAACTCCTGTCCTCAGGTCATCCGCCCGCCTTGGCCTCCCACAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAACTCATACCCCGGCATTCTTTCAGGGACTGCCAAAAAGAGCAAGATCCTGTCCAAGGAAGAACAGAAAGTGGTTGTGTTTCATGAGTCGGGCCACGCCTTGGTGGGCTGGATGCTGGAGCACACGGAGGCCGTGATGAAGGTGGGTCTTGGCAGGTGCCGGCTCCACGGGCCTTGGCCAAAGGTGGGTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGGTCATGTGAGAGGAAAGCCTGCCACTGTCATGATCCATGGAGCAGGGTGGGTGGCGACTGATGGGCGGGAACTCGGACGTGGGAGGCAGGAGTGGGCTGTGTCACATCGGAGCATGGTGCTGCTACTGGGGTGACTCGTGGAAGGTTACACCATGCAATGGGGTTTCGCTGCCTTTGCCTGTCCACCCCAAATGACTCCTAACATTGGAAAGAAGTGAGTTGAGTGTACATTTAAAAAATACTATTCTAGGCTGGGCATGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAGGGCAAAACTGTCTCTACTTCAAACAAACAAACAAAAAACTACTCTTGTAGGCAGCTGTGAACTCGATGGACATTTATTCTTACCAAATGGTGATGTTACAGCTTCTCTAAGACGTGGCTCCACCACCGGGAGTCCGAGTGCTGCCAAGAGGAGGTCTCTACTCGGAACGCAGGTGCCGTCTTTACAGTGGAGCCCCAGGAAGCCGTGCAGGTTTGAGGCTCACCTGAGAAGGCGGCAGTGCTGTGTTCCTACCTCAGGGTTCACTGCAAACAATGCATACGCTGTAGCAGTTGCCAGCTTGGTTTGTCAGTGCTGGTCTCCGTGATTGGTTCTCAGGTGTGAGTTGTAGCAAAGTTGCGTGTTAATCAGAGAGCGTCCTGCCCATCCCAGGGTCTCAGCAGGGCTGAGGCAGCGTTTGGGGACCAGATCCGTGCTGCTCCTTGGCGATGTGCACCACAGTCATGGGACCAGAGCTAGGCCCACTGTGGGGCGAGTGGACACTCAGCTGGGGGTCCCATTTATGGGACACTAAAAAACTCAGCAGTGAACACGACGTTTTAACACGGTATGTCAAGAAATCAAAATTAATGCAGGGACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGTGAAACCCCATCTCTACCAAAAATACAAAAGAATTAGCTGGGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGC
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Task1_train_23072
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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?
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Pathogenic; Hereditary spastic paraplegia 7
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GGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGCCTCAGCATCGTGGGGTTCTCATTGCTCTGAACCCTCAGTAGCTGTCGCTGGTGTGAGGGGTCAGCGCAGCGGCCATCGGGGGTGAAACTTGTCCTTCGCCTCTCAGCTGTCTTCTACGGGCCTTGTCTTCTTGACTCCCTGCCTGTCTAGTCATGTATGAGAAGACACTTCCCGGCAGTGTGTGAACAGGCACCTGTGGTGGGAACGCTGCTGTCTCTGGGCTGGCCATCTAGAGTGTTAGGATCCCCTGTTGTTGTAGAGGATGCTGCACATTTGCCTTCCTGCTTTGAGACGCTTTAATGACGGAGACCTCTTAGTCCCACACCTTCCTCCTCAAAGCCCACGCATCCTGCCTACTGACCTGGGTCATCTTGACCTTGTGCCAGGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTTTGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGTGAGGAGCAGCGGCGCGGGCCCTGGAGGTTTCAGAGCGCTTTTCCCTGCATGACTCCTTCTGTTCCAGTGCATGCCATGGGGTGAATCTGGTGTAGACGTAGCTTTGAATTTATTAAGTATTTTGTAAAAGATAAGTTGTGGTCATAAGAGAGTTGGAGCTAAGCAAGACTTCTTAGATAATTTAATTGGACAAAAACTTAACCTATATGCCAACTCTAGACACATTTAATTGGTTAATTGTTGGTAATGGCTACAGGAAACGGAATAAAATTGAAGCGGCTTCATTGTTCTGAAGCCATTACTGCACTGGGATATCCAGAGAGCTGAAGGAGGGTCCCGGGGGCCCCTGGGCTCCAGGTCCATGGGTTTGCCTCGCATAGGCCTGGGCTTGTGCTTGAGAACTGCCATGCAGTGAGCTCCAGTATGCCCCCGGGTTCTAGATTTCCAAATAAAAGAGCATTTCGGAAAGTTTTAAGACTCTCTTAAGGAACAGTGGTGAGGTGCCAACGTCCTCACTGTCCAGCTTCACGGTGGGTCCTCGGGAGGAAGGGGATGGAGGTGGTGCTGCCTCAGTGCTCTGACCGGGACACCTGGGGCCCAGCACTGCTCTGCGCCTGCAGTGCTGAGGATGCCTCTGTCTCGACCCCGCCCTCCAGGGGCACAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCATCGGGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGACCATGTGAGTCGGCTCTGGCCACACCGCTGCCCTCTGTGCTCCCCGGGGAGGGAGTCCCTGGGTCTACCACACAAGGGTCGCCCACGGCCGCCCCAGCGGAGCTCAGCTGCAGGCCCCACCTGGGTTTCTTCCTTCTGGGCTCTGCTGTAGTTCCCACCTGTGGAGTATTTTCTTCTCAAATGAGGACATAGATGCTCCTAATGAAATTATAGATGTGAATCTGGGAAGAATATCAAATAAATACACCGAGCAATAGACCCAGGGCCCACATGTCCTTCAGACTGGGCCAGGAAGGGCCGATGTGTGCCTGTGAGGCAGCTGTGGGTGGGTGTGGGTGGGTGGGCTGGCATGCGGAGCCCTGCTTTCCTGGCACTGGTCACAGGGGCAGGAGACCACCTGTCGGCTGAGGAGTCCTGTTCCTCCTGGGAGGGGAAAGGCCGTGTTCCCAGTCTGCCATTTCTTTTCTGTGCTTTGGTGCTGGAGCCAGGCGGCCAGCCTTGCCCCTGACACAGTTCCCTCCACTCACAGGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGGTGAGGCCCTGGCCAGGCGTGGGGGCTACGGCGTCACACAGTGTCCACACAGCACCCACGGTCCCCACCCCTCTCGTGAAGTATTTCCAAGGCACACAGAGTACAGAGAACACTCTGACCGATGTGAATTCTACCCAGCTCAACTGAAACTTACGTGTTCCATACTTTTTATCCTGAACTCGTCAAGTGTGTTCCCCCGAGGTAGAAAGAAGGCTGCCACAGTCTCCTGTGCCTCTTCCTGCCATTAGCAATTACCAATGTTTTGTCAGTTTTGTTTAATCTTTTCCCAAGTCTTACACTTTTTTCTTGAACATTTTTTTAAAACAAAGCTTTAATTTTAGAGTAGGAATTTTTTTTTCTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCTCCTGTCTCAGCCTCCCAAGTGTCTGGGATTACAGGCACGCGTCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTTACCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACAGCCCCACGCTGATTATAGTGTTAGATGTAGAAAAGTTGCAGGCGCGGTGCAGAGAGCTCCCTGCCACCCTGCCTCGCTCCCGTGGAGGCCCCCATGGGGCAGTCCTCCCACCTGAGGAGCCCCCGCCGACCCGCGGTGTTGGGTCCACACGTGATTCAGATGTGCTGAGTCTCCCCAGTGTCCTTTCCGGTCTTGGGAGTCCACATGGCGTTTGATCGCCCATCTTCTTAGGCTCCTCTGGGGTGACAGTTCCTCAGACCTCCCTTGTTTTGAGGGCTCTGGCAGTTTTGAGGATTGGTCTCATGTTTTGTAGGACGTTCCTCAGTTGCGATTGTCTGATGTGTTTCTCACAGTGGGCAGAGCTGGAGTGAACGTTTTTGTCCCTGGGTTTGGTAACTGCTGCTTAGAACTCAGGAGAGGTGCACGGCTCTTTGTCCCATGTTGTGAACAGATGGGTAGGCAGTGGATAGGTAG
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GGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGCCTCAGCATCGTGGGGTTCTCATTGCTCTGAACCCTCAGTAGCTGTCGCTGGTGTGAGGGGTCAGCGCAGCGGCCATCGGGGGTGAAACTTGTCCTTCGCCTCTCAGCTGTCTTCTACGGGCCTTGTCTTCTTGACTCCCTGCCTGTCTAGTCATGTATGAGAAGACACTTCCCGGCAGTGTGTGAACAGGCACCTGTGGTGGGAACGCTGCTGTCTCTGGGCTGGCCATCTAGAGTGTTAGGATCCCCTGTTGTTGTAGAGGATGCTGCACATTTGCCTTCCTGCTTTGAGACGCTTTAATGACGGAGACCTCTTAGTCCCACACCTTCCTCCTCAAAGCCCACGCATCCTGCCTACTGACCTGGGTCATCTTGACCTTGTGCCAGGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTTTGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGTGAGGAGCAGCGGCGCGGGCCCTGGAGGTTTCAGAGCGCTTTTCCCTGCATGACTCCTTCTGTTCCAGTGCATGCCATGGGGTGAATCTGGTGTAGACGTAGCTTTGAATTTATTAAGTATTTTGTAAAAGATAAGTTGTGGTCATAAGAGAGTTGGAGCTAAGCAAGACTTCTTAGATAATTTAATTGGACAAAAACTTAACCTATATGCCAACTCTAGACACATTTAATTGGTTAATTGTTGGTAATGGCTACAGGAAACGGAATAAAATTGAAGCGGCTTCATTGTTCTGAAGCCATTACTGCACTGGGATATCCAGAGAGCTGAAGGAGGGTCCCGGGGGCCCCTGGGCTCCAGGTCCATGGGTTTGCCTCGCATAGGCCTGGGCTTGTGCTTGAGAACTGCCATGCAGTGAGCTCCAGTATGCCCCCGGGTTCTAGATTTCCAAATAAAAGAGCATTTCGGAAAGTTTTAAGACTCTCTTAAGGAACAGTGGTGAGGTGCCAACGTCCTCACTGTCCAGCTTCACGGTGGGTCCTCGGGAGGAAGGGGATGGAGGTGGTGCTGCCTCAGTGCTCTGACCGGGACACCTGGGGCCCAGCACTGCTCTGCGCCTGCAGTGCTGAGGATGCCTCTGTCTCGACCCCGCCCTCCAGGGGAACAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCATCGGGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGACCATGTGAGTCGGCTCTGGCCACACCGCTGCCCTCTGTGCTCCCCGGGGAGGGAGTCCCTGGGTCTACCACACAAGGGTCGCCCACGGCCGCCCCAGCGGAGCTCAGCTGCAGGCCCCACCTGGGTTTCTTCCTTCTGGGCTCTGCTGTAGTTCCCACCTGTGGAGTATTTTCTTCTCAAATGAGGACATAGATGCTCCTAATGAAATTATAGATGTGAATCTGGGAAGAATATCAAATAAATACACCGAGCAATAGACCCAGGGCCCACATGTCCTTCAGACTGGGCCAGGAAGGGCCGATGTGTGCCTGTGAGGCAGCTGTGGGTGGGTGTGGGTGGGTGGGCTGGCATGCGGAGCCCTGCTTTCCTGGCACTGGTCACAGGGGCAGGAGACCACCTGTCGGCTGAGGAGTCCTGTTCCTCCTGGGAGGGGAAAGGCCGTGTTCCCAGTCTGCCATTTCTTTTCTGTGCTTTGGTGCTGGAGCCAGGCGGCCAGCCTTGCCCCTGACACAGTTCCCTCCACTCACAGGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGGTGAGGCCCTGGCCAGGCGTGGGGGCTACGGCGTCACACAGTGTCCACACAGCACCCACGGTCCCCACCCCTCTCGTGAAGTATTTCCAAGGCACACAGAGTACAGAGAACACTCTGACCGATGTGAATTCTACCCAGCTCAACTGAAACTTACGTGTTCCATACTTTTTATCCTGAACTCGTCAAGTGTGTTCCCCCGAGGTAGAAAGAAGGCTGCCACAGTCTCCTGTGCCTCTTCCTGCCATTAGCAATTACCAATGTTTTGTCAGTTTTGTTTAATCTTTTCCCAAGTCTTACACTTTTTTCTTGAACATTTTTTTAAAACAAAGCTTTAATTTTAGAGTAGGAATTTTTTTTTCTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCTCCTGTCTCAGCCTCCCAAGTGTCTGGGATTACAGGCACGCGTCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTTACCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACAGCCCCACGCTGATTATAGTGTTAGATGTAGAAAAGTTGCAGGCGCGGTGCAGAGAGCTCCCTGCCACCCTGCCTCGCTCCCGTGGAGGCCCCCATGGGGCAGTCCTCCCACCTGAGGAGCCCCCGCCGACCCGCGGTGTTGGGTCCACACGTGATTCAGATGTGCTGAGTCTCCCCAGTGTCCTTTCCGGTCTTGGGAGTCCACATGGCGTTTGATCGCCCATCTTCTTAGGCTCCTCTGGGGTGACAGTTCCTCAGACCTCCCTTGTTTTGAGGGCTCTGGCAGTTTTGAGGATTGGTCTCATGTTTTGTAGGACGTTCCTCAGTTGCGATTGTCTGATGTGTTTCTCACAGTGGGCAGAGCTGGAGTGAACGTTTTTGTCCCTGGGTTTGGTAACTGCTGCTTAGAACTCAGGAGAGGTGCACGGCTCTTTGTCCCATGTTGTGAACAGATGGGTAGGCAGTGGATAGGTAG
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Task1_train_23073
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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?
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Pathogenic; Hereditary pancreatitis
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AGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGCCTCAGCATCGTGGGGTTCTCATTGCTCTGAACCCTCAGTAGCTGTCGCTGGTGTGAGGGGTCAGCGCAGCGGCCATCGGGGGTGAAACTTGTCCTTCGCCTCTCAGCTGTCTTCTACGGGCCTTGTCTTCTTGACTCCCTGCCTGTCTAGTCATGTATGAGAAGACACTTCCCGGCAGTGTGTGAACAGGCACCTGTGGTGGGAACGCTGCTGTCTCTGGGCTGGCCATCTAGAGTGTTAGGATCCCCTGTTGTTGTAGAGGATGCTGCACATTTGCCTTCCTGCTTTGAGACGCTTTAATGACGGAGACCTCTTAGTCCCACACCTTCCTCCTCAAAGCCCACGCATCCTGCCTACTGACCTGGGTCATCTTGACCTTGTGCCAGGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTTTGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGTGAGGAGCAGCGGCGCGGGCCCTGGAGGTTTCAGAGCGCTTTTCCCTGCATGACTCCTTCTGTTCCAGTGCATGCCATGGGGTGAATCTGGTGTAGACGTAGCTTTGAATTTATTAAGTATTTTGTAAAAGATAAGTTGTGGTCATAAGAGAGTTGGAGCTAAGCAAGACTTCTTAGATAATTTAATTGGACAAAAACTTAACCTATATGCCAACTCTAGACACATTTAATTGGTTAATTGTTGGTAATGGCTACAGGAAACGGAATAAAATTGAAGCGGCTTCATTGTTCTGAAGCCATTACTGCACTGGGATATCCAGAGAGCTGAAGGAGGGTCCCGGGGGCCCCTGGGCTCCAGGTCCATGGGTTTGCCTCGCATAGGCCTGGGCTTGTGCTTGAGAACTGCCATGCAGTGAGCTCCAGTATGCCCCCGGGTTCTAGATTTCCAAATAAAAGAGCATTTCGGAAAGTTTTAAGACTCTCTTAAGGAACAGTGGTGAGGTGCCAACGTCCTCACTGTCCAGCTTCACGGTGGGTCCTCGGGAGGAAGGGGATGGAGGTGGTGCTGCCTCAGTGCTCTGACCGGGACACCTGGGGCCCAGCACTGCTCTGCGCCTGCAGTGCTGAGGATGCCTCTGTCTCGACCCCGCCCTCCAGGGGCACAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCATCGGGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGACCATGTGAGTCGGCTCTGGCCACACCGCTGCCCTCTGTGCTCCCCGGGGAGGGAGTCCCTGGGTCTACCACACAAGGGTCGCCCACGGCCGCCCCAGCGGAGCTCAGCTGCAGGCCCCACCTGGGTTTCTTCCTTCTGGGCTCTGCTGTAGTTCCCACCTGTGGAGTATTTTCTTCTCAAATGAGGACATAGATGCTCCTAATGAAATTATAGATGTGAATCTGGGAAGAATATCAAATAAATACACCGAGCAATAGACCCAGGGCCCACATGTCCTTCAGACTGGGCCAGGAAGGGCCGATGTGTGCCTGTGAGGCAGCTGTGGGTGGGTGTGGGTGGGTGGGCTGGCATGCGGAGCCCTGCTTTCCTGGCACTGGTCACAGGGGCAGGAGACCACCTGTCGGCTGAGGAGTCCTGTTCCTCCTGGGAGGGGAAAGGCCGTGTTCCCAGTCTGCCATTTCTTTTCTGTGCTTTGGTGCTGGAGCCAGGCGGCCAGCCTTGCCCCTGACACAGTTCCCTCCACTCACAGGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGGTGAGGCCCTGGCCAGGCGTGGGGGCTACGGCGTCACACAGTGTCCACACAGCACCCACGGTCCCCACCCCTCTCGTGAAGTATTTCCAAGGCACACAGAGTACAGAGAACACTCTGACCGATGTGAATTCTACCCAGCTCAACTGAAACTTACGTGTTCCATACTTTTTATCCTGAACTCGTCAAGTGTGTTCCCCCGAGGTAGAAAGAAGGCTGCCACAGTCTCCTGTGCCTCTTCCTGCCATTAGCAATTACCAATGTTTTGTCAGTTTTGTTTAATCTTTTCCCAAGTCTTACACTTTTTTCTTGAACATTTTTTTAAAACAAAGCTTTAATTTTAGAGTAGGAATTTTTTTTTCTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCTCCTGTCTCAGCCTCCCAAGTGTCTGGGATTACAGGCACGCGTCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTTACCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACAGCCCCACGCTGATTATAGTGTTAGATGTAGAAAAGTTGCAGGCGCGGTGCAGAGAGCTCCCTGCCACCCTGCCTCGCTCCCGTGGAGGCCCCCATGGGGCAGTCCTCCCACCTGAGGAGCCCCCGCCGACCCGCGGTGTTGGGTCCACACGTGATTCAGATGTGCTGAGTCTCCCCAGTGTCCTTTCCGGTCTTGGGAGTCCACATGGCGTTTGATCGCCCATCTTCTTAGGCTCCTCTGGGGTGACAGTTCCTCAGACCTCCCTTGTTTTGAGGGCTCTGGCAGTTTTGAGGATTGGTCTCATGTTTTGTAGGACGTTCCTCAGTTGCGATTGTCTGATGTGTTTCTCACAGTGGGCAGAGCTGGAGTGAACGTTTTTGTCCCTGGGTTTGGTAACTGCTGCTTAGAACTCAGGAGAGGTGCACGGCTCTTTGTCCCATGTTGTGAACAGATGGGTAGGCAGTGGATAGGTAGTTGTTTCTTCAGCCTCCCCTTGTGTCTTTCAAGCGAGCACTGTGTGTCACGTGGGGATCGTGTTTGGGGCCCTT
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AGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGCCTCAGCATCGTGGGGTTCTCATTGCTCTGAACCCTCAGTAGCTGTCGCTGGTGTGAGGGGTCAGCGCAGCGGCCATCGGGGGTGAAACTTGTCCTTCGCCTCTCAGCTGTCTTCTACGGGCCTTGTCTTCTTGACTCCCTGCCTGTCTAGTCATGTATGAGAAGACACTTCCCGGCAGTGTGTGAACAGGCACCTGTGGTGGGAACGCTGCTGTCTCTGGGCTGGCCATCTAGAGTGTTAGGATCCCCTGTTGTTGTAGAGGATGCTGCACATTTGCCTTCCTGCTTTGAGACGCTTTAATGACGGAGACCTCTTAGTCCCACACCTTCCTCCTCAAAGCCCACGCATCCTGCCTACTGACCTGGGTCATCTTGACCTTGTGCCAGGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTTTGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGTGAGGAGCAGCGGCGCGGGCCCTGGAGGTTTCAGAGCGCTTTTCCCTGCATGACTCCTTCTGTTCCAGTGCATGCCATGGGGTGAATCTGGTGTAGACGTAGCTTTGAATTTATTAAGTATTTTGTAAAAGATAAGTTGTGGTCATAAGAGAGTTGGAGCTAAGCAAGACTTCTTAGATAATTTAATTGGACAAAAACTTAACCTATATGCCAACTCTAGACACATTTAATTGGTTAATTGTTGGTAATGGCTACAGGAAACGGAATAAAATTGAAGCGGCTTCATTGTTCTGAAGCCATTACTGCACTGGGATATCCAGAGAGCTGAAGGAGGGTCCCGGGGGCCCCTGGGCTCCAGGTCCATGGGTTTGCCTCGCATAGGCCTGGGCTTGTGCTTGAGAACTGCCATGCAGTGAGCTCCAGTATGCCCCCGGGTTCTAGATTTCCAAATAAAAGAGCATTTCGGAAAGTTTTAAGACTCTCTTAAGGAACAGTGGTGAGGTGCCAACGTCCTCACTGTCCAGCTTCACGGTGGGTCCTCGGGAGGAAGGGGATGGAGGTGGTGCTGCCTCAGTGCTCTGACCGGGACACCTGGGGCCCAGCACTGCTCTGCGCCTGCAGTGCTGAGGATGCCTCTGTCTCGACCCCGCCCTCCAGGGGCACAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCAGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCATCGGGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGACCATGTGAGTCGGCTCTGGCCACACCGCTGCCCTCTGTGCTCCCCGGGGAGGGAGTCCCTGGGTCTACCACACAAGGGTCGCCCACGGCCGCCCCAGCGGAGCTCAGCTGCAGGCCCCACCTGGGTTTCTTCCTTCTGGGCTCTGCTGTAGTTCCCACCTGTGGAGTATTTTCTTCTCAAATGAGGACATAGATGCTCCTAATGAAATTATAGATGTGAATCTGGGAAGAATATCAAATAAATACACCGAGCAATAGACCCAGGGCCCACATGTCCTTCAGACTGGGCCAGGAAGGGCCGATGTGTGCCTGTGAGGCAGCTGTGGGTGGGTGTGGGTGGGTGGGCTGGCATGCGGAGCCCTGCTTTCCTGGCACTGGTCACAGGGGCAGGAGACCACCTGTCGGCTGAGGAGTCCTGTTCCTCCTGGGAGGGGAAAGGCCGTGTTCCCAGTCTGCCATTTCTTTTCTGTGCTTTGGTGCTGGAGCCAGGCGGCCAGCCTTGCCCCTGACACAGTTCCCTCCACTCACAGGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGGTGAGGCCCTGGCCAGGCGTGGGGGCTACGGCGTCACACAGTGTCCACACAGCACCCACGGTCCCCACCCCTCTCGTGAAGTATTTCCAAGGCACACAGAGTACAGAGAACACTCTGACCGATGTGAATTCTACCCAGCTCAACTGAAACTTACGTGTTCCATACTTTTTATCCTGAACTCGTCAAGTGTGTTCCCCCGAGGTAGAAAGAAGGCTGCCACAGTCTCCTGTGCCTCTTCCTGCCATTAGCAATTACCAATGTTTTGTCAGTTTTGTTTAATCTTTTCCCAAGTCTTACACTTTTTTCTTGAACATTTTTTTAAAACAAAGCTTTAATTTTAGAGTAGGAATTTTTTTTTCTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCTCCTGTCTCAGCCTCCCAAGTGTCTGGGATTACAGGCACGCGTCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTTACCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACAGCCCCACGCTGATTATAGTGTTAGATGTAGAAAAGTTGCAGGCGCGGTGCAGAGAGCTCCCTGCCACCCTGCCTCGCTCCCGTGGAGGCCCCCATGGGGCAGTCCTCCCACCTGAGGAGCCCCCGCCGACCCGCGGTGTTGGGTCCACACGTGATTCAGATGTGCTGAGTCTCCCCAGTGTCCTTTCCGGTCTTGGGAGTCCACATGGCGTTTGATCGCCCATCTTCTTAGGCTCCTCTGGGGTGACAGTTCCTCAGACCTCCCTTGTTTTGAGGGCTCTGGCAGTTTTGAGGATTGGTCTCATGTTTTGTAGGACGTTCCTCAGTTGCGATTGTCTGATGTGTTTCTCACAGTGGGCAGAGCTGGAGTGAACGTTTTTGTCCCTGGGTTTGGTAACTGCTGCTTAGAACTCAGGAGAGGTGCACGGCTCTTTGTCCCATGTTGTGAACAGATGGGTAGGCAGTGGATAGGTAGTTGTTTCTTCAGCCTCCCCTTGTGTCTTTCAAGCGAGCACTGTGTGTCACGTGGGGATCGTGTTTGGGGCCCTT
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Task1_train_23074
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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.
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Pathogenic; Hereditary spastic paraplegia 7
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AGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGCCTCAGCATCGTGGGGTTCTCATTGCTCTGAACCCTCAGTAGCTGTCGCTGGTGTGAGGGGTCAGCGCAGCGGCCATCGGGGGTGAAACTTGTCCTTCGCCTCTCAGCTGTCTTCTACGGGCCTTGTCTTCTTGACTCCCTGCCTGTCTAGTCATGTATGAGAAGACACTTCCCGGCAGTGTGTGAACAGGCACCTGTGGTGGGAACGCTGCTGTCTCTGGGCTGGCCATCTAGAGTGTTAGGATCCCCTGTTGTTGTAGAGGATGCTGCACATTTGCCTTCCTGCTTTGAGACGCTTTAATGACGGAGACCTCTTAGTCCCACACCTTCCTCCTCAAAGCCCACGCATCCTGCCTACTGACCTGGGTCATCTTGACCTTGTGCCAGGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTTTGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGTGAGGAGCAGCGGCGCGGGCCCTGGAGGTTTCAGAGCGCTTTTCCCTGCATGACTCCTTCTGTTCCAGTGCATGCCATGGGGTGAATCTGGTGTAGACGTAGCTTTGAATTTATTAAGTATTTTGTAAAAGATAAGTTGTGGTCATAAGAGAGTTGGAGCTAAGCAAGACTTCTTAGATAATTTAATTGGACAAAAACTTAACCTATATGCCAACTCTAGACACATTTAATTGGTTAATTGTTGGTAATGGCTACAGGAAACGGAATAAAATTGAAGCGGCTTCATTGTTCTGAAGCCATTACTGCACTGGGATATCCAGAGAGCTGAAGGAGGGTCCCGGGGGCCCCTGGGCTCCAGGTCCATGGGTTTGCCTCGCATAGGCCTGGGCTTGTGCTTGAGAACTGCCATGCAGTGAGCTCCAGTATGCCCCCGGGTTCTAGATTTCCAAATAAAAGAGCATTTCGGAAAGTTTTAAGACTCTCTTAAGGAACAGTGGTGAGGTGCCAACGTCCTCACTGTCCAGCTTCACGGTGGGTCCTCGGGAGGAAGGGGATGGAGGTGGTGCTGCCTCAGTGCTCTGACCGGGACACCTGGGGCCCAGCACTGCTCTGCGCCTGCAGTGCTGAGGATGCCTCTGTCTCGACCCCGCCCTCCAGGGGCACAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCATCGGGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGACCATGTGAGTCGGCTCTGGCCACACCGCTGCCCTCTGTGCTCCCCGGGGAGGGAGTCCCTGGGTCTACCACACAAGGGTCGCCCACGGCCGCCCCAGCGGAGCTCAGCTGCAGGCCCCACCTGGGTTTCTTCCTTCTGGGCTCTGCTGTAGTTCCCACCTGTGGAGTATTTTCTTCTCAAATGAGGACATAGATGCTCCTAATGAAATTATAGATGTGAATCTGGGAAGAATATCAAATAAATACACCGAGCAATAGACCCAGGGCCCACATGTCCTTCAGACTGGGCCAGGAAGGGCCGATGTGTGCCTGTGAGGCAGCTGTGGGTGGGTGTGGGTGGGTGGGCTGGCATGCGGAGCCCTGCTTTCCTGGCACTGGTCACAGGGGCAGGAGACCACCTGTCGGCTGAGGAGTCCTGTTCCTCCTGGGAGGGGAAAGGCCGTGTTCCCAGTCTGCCATTTCTTTTCTGTGCTTTGGTGCTGGAGCCAGGCGGCCAGCCTTGCCCCTGACACAGTTCCCTCCACTCACAGGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGGTGAGGCCCTGGCCAGGCGTGGGGGCTACGGCGTCACACAGTGTCCACACAGCACCCACGGTCCCCACCCCTCTCGTGAAGTATTTCCAAGGCACACAGAGTACAGAGAACACTCTGACCGATGTGAATTCTACCCAGCTCAACTGAAACTTACGTGTTCCATACTTTTTATCCTGAACTCGTCAAGTGTGTTCCCCCGAGGTAGAAAGAAGGCTGCCACAGTCTCCTGTGCCTCTTCCTGCCATTAGCAATTACCAATGTTTTGTCAGTTTTGTTTAATCTTTTCCCAAGTCTTACACTTTTTTCTTGAACATTTTTTTAAAACAAAGCTTTAATTTTAGAGTAGGAATTTTTTTTTCTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCTCCTGTCTCAGCCTCCCAAGTGTCTGGGATTACAGGCACGCGTCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTTACCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACAGCCCCACGCTGATTATAGTGTTAGATGTAGAAAAGTTGCAGGCGCGGTGCAGAGAGCTCCCTGCCACCCTGCCTCGCTCCCGTGGAGGCCCCCATGGGGCAGTCCTCCCACCTGAGGAGCCCCCGCCGACCCGCGGTGTTGGGTCCACACGTGATTCAGATGTGCTGAGTCTCCCCAGTGTCCTTTCCGGTCTTGGGAGTCCACATGGCGTTTGATCGCCCATCTTCTTAGGCTCCTCTGGGGTGACAGTTCCTCAGACCTCCCTTGTTTTGAGGGCTCTGGCAGTTTTGAGGATTGGTCTCATGTTTTGTAGGACGTTCCTCAGTTGCGATTGTCTGATGTGTTTCTCACAGTGGGCAGAGCTGGAGTGAACGTTTTTGTCCCTGGGTTTGGTAACTGCTGCTTAGAACTCAGGAGAGGTGCACGGCTCTTTGTCCCATGTTGTGAACAGATGGGTAGGCAGTGGATAGGTAGTTGTTTCTTCAGCCTCCCCTTGTGTCTTTCAAGCGAGCACTGTGTGTCACGTGGGGATCGTGTTTGGGGCCCTT
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AGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGCCTCAGCATCGTGGGGTTCTCATTGCTCTGAACCCTCAGTAGCTGTCGCTGGTGTGAGGGGTCAGCGCAGCGGCCATCGGGGGTGAAACTTGTCCTTCGCCTCTCAGCTGTCTTCTACGGGCCTTGTCTTCTTGACTCCCTGCCTGTCTAGTCATGTATGAGAAGACACTTCCCGGCAGTGTGTGAACAGGCACCTGTGGTGGGAACGCTGCTGTCTCTGGGCTGGCCATCTAGAGTGTTAGGATCCCCTGTTGTTGTAGAGGATGCTGCACATTTGCCTTCCTGCTTTGAGACGCTTTAATGACGGAGACCTCTTAGTCCCACACCTTCCTCCTCAAAGCCCACGCATCCTGCCTACTGACCTGGGTCATCTTGACCTTGTGCCAGGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTTTGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGTGAGGAGCAGCGGCGCGGGCCCTGGAGGTTTCAGAGCGCTTTTCCCTGCATGACTCCTTCTGTTCCAGTGCATGCCATGGGGTGAATCTGGTGTAGACGTAGCTTTGAATTTATTAAGTATTTTGTAAAAGATAAGTTGTGGTCATAAGAGAGTTGGAGCTAAGCAAGACTTCTTAGATAATTTAATTGGACAAAAACTTAACCTATATGCCAACTCTAGACACATTTAATTGGTTAATTGTTGGTAATGGCTACAGGAAACGGAATAAAATTGAAGCGGCTTCATTGTTCTGAAGCCATTACTGCACTGGGATATCCAGAGAGCTGAAGGAGGGTCCCGGGGGCCCCTGGGCTCCAGGTCCATGGGTTTGCCTCGCATAGGCCTGGGCTTGTGCTTGAGAACTGCCATGCAGTGAGCTCCAGTATGCCCCCGGGTTCTAGATTTCCAAATAAAAGAGCATTTCGGAAAGTTTTAAGACTCTCTTAAGGAACAGTGGTGAGGTGCCAACGTCCTCACTGTCCAGCTTCACGGTGGGTCCTCGGGAGGAAGGGGATGGAGGTGGTGCTGCCTCAGTGCTCTGACCGGGACACCTGGGGCCCAGCACTGCTCTGCGCCTGCAGTGCTGAGGATGCCTCTGTCTCGACCCCGCCCTCCAGGGGCACAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCAGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCATCGGGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGACCATGTGAGTCGGCTCTGGCCACACCGCTGCCCTCTGTGCTCCCCGGGGAGGGAGTCCCTGGGTCTACCACACAAGGGTCGCCCACGGCCGCCCCAGCGGAGCTCAGCTGCAGGCCCCACCTGGGTTTCTTCCTTCTGGGCTCTGCTGTAGTTCCCACCTGTGGAGTATTTTCTTCTCAAATGAGGACATAGATGCTCCTAATGAAATTATAGATGTGAATCTGGGAAGAATATCAAATAAATACACCGAGCAATAGACCCAGGGCCCACATGTCCTTCAGACTGGGCCAGGAAGGGCCGATGTGTGCCTGTGAGGCAGCTGTGGGTGGGTGTGGGTGGGTGGGCTGGCATGCGGAGCCCTGCTTTCCTGGCACTGGTCACAGGGGCAGGAGACCACCTGTCGGCTGAGGAGTCCTGTTCCTCCTGGGAGGGGAAAGGCCGTGTTCCCAGTCTGCCATTTCTTTTCTGTGCTTTGGTGCTGGAGCCAGGCGGCCAGCCTTGCCCCTGACACAGTTCCCTCCACTCACAGGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGGTGAGGCCCTGGCCAGGCGTGGGGGCTACGGCGTCACACAGTGTCCACACAGCACCCACGGTCCCCACCCCTCTCGTGAAGTATTTCCAAGGCACACAGAGTACAGAGAACACTCTGACCGATGTGAATTCTACCCAGCTCAACTGAAACTTACGTGTTCCATACTTTTTATCCTGAACTCGTCAAGTGTGTTCCCCCGAGGTAGAAAGAAGGCTGCCACAGTCTCCTGTGCCTCTTCCTGCCATTAGCAATTACCAATGTTTTGTCAGTTTTGTTTAATCTTTTCCCAAGTCTTACACTTTTTTCTTGAACATTTTTTTAAAACAAAGCTTTAATTTTAGAGTAGGAATTTTTTTTTCTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCTCCTGTCTCAGCCTCCCAAGTGTCTGGGATTACAGGCACGCGTCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTTACCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACAGCCCCACGCTGATTATAGTGTTAGATGTAGAAAAGTTGCAGGCGCGGTGCAGAGAGCTCCCTGCCACCCTGCCTCGCTCCCGTGGAGGCCCCCATGGGGCAGTCCTCCCACCTGAGGAGCCCCCGCCGACCCGCGGTGTTGGGTCCACACGTGATTCAGATGTGCTGAGTCTCCCCAGTGTCCTTTCCGGTCTTGGGAGTCCACATGGCGTTTGATCGCCCATCTTCTTAGGCTCCTCTGGGGTGACAGTTCCTCAGACCTCCCTTGTTTTGAGGGCTCTGGCAGTTTTGAGGATTGGTCTCATGTTTTGTAGGACGTTCCTCAGTTGCGATTGTCTGATGTGTTTCTCACAGTGGGCAGAGCTGGAGTGAACGTTTTTGTCCCTGGGTTTGGTAACTGCTGCTTAGAACTCAGGAGAGGTGCACGGCTCTTTGTCCCATGTTGTGAACAGATGGGTAGGCAGTGGATAGGTAGTTGTTTCTTCAGCCTCCCCTTGTGTCTTTCAAGCGAGCACTGTGTGTCACGTGGGGATCGTGTTTGGGGCCCTT
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Task1_train_23075
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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?
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Pathogenic; Hereditary spastic paraplegia 7
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GTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGCCTCAGCATCGTGGGGTTCTCATTGCTCTGAACCCTCAGTAGCTGTCGCTGGTGTGAGGGGTCAGCGCAGCGGCCATCGGGGGTGAAACTTGTCCTTCGCCTCTCAGCTGTCTTCTACGGGCCTTGTCTTCTTGACTCCCTGCCTGTCTAGTCATGTATGAGAAGACACTTCCCGGCAGTGTGTGAACAGGCACCTGTGGTGGGAACGCTGCTGTCTCTGGGCTGGCCATCTAGAGTGTTAGGATCCCCTGTTGTTGTAGAGGATGCTGCACATTTGCCTTCCTGCTTTGAGACGCTTTAATGACGGAGACCTCTTAGTCCCACACCTTCCTCCTCAAAGCCCACGCATCCTGCCTACTGACCTGGGTCATCTTGACCTTGTGCCAGGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTTTGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGTGAGGAGCAGCGGCGCGGGCCCTGGAGGTTTCAGAGCGCTTTTCCCTGCATGACTCCTTCTGTTCCAGTGCATGCCATGGGGTGAATCTGGTGTAGACGTAGCTTTGAATTTATTAAGTATTTTGTAAAAGATAAGTTGTGGTCATAAGAGAGTTGGAGCTAAGCAAGACTTCTTAGATAATTTAATTGGACAAAAACTTAACCTATATGCCAACTCTAGACACATTTAATTGGTTAATTGTTGGTAATGGCTACAGGAAACGGAATAAAATTGAAGCGGCTTCATTGTTCTGAAGCCATTACTGCACTGGGATATCCAGAGAGCTGAAGGAGGGTCCCGGGGGCCCCTGGGCTCCAGGTCCATGGGTTTGCCTCGCATAGGCCTGGGCTTGTGCTTGAGAACTGCCATGCAGTGAGCTCCAGTATGCCCCCGGGTTCTAGATTTCCAAATAAAAGAGCATTTCGGAAAGTTTTAAGACTCTCTTAAGGAACAGTGGTGAGGTGCCAACGTCCTCACTGTCCAGCTTCACGGTGGGTCCTCGGGAGGAAGGGGATGGAGGTGGTGCTGCCTCAGTGCTCTGACCGGGACACCTGGGGCCCAGCACTGCTCTGCGCCTGCAGTGCTGAGGATGCCTCTGTCTCGACCCCGCCCTCCAGGGGCACAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCATCGGGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGACCATGTGAGTCGGCTCTGGCCACACCGCTGCCCTCTGTGCTCCCCGGGGAGGGAGTCCCTGGGTCTACCACACAAGGGTCGCCCACGGCCGCCCCAGCGGAGCTCAGCTGCAGGCCCCACCTGGGTTTCTTCCTTCTGGGCTCTGCTGTAGTTCCCACCTGTGGAGTATTTTCTTCTCAAATGAGGACATAGATGCTCCTAATGAAATTATAGATGTGAATCTGGGAAGAATATCAAATAAATACACCGAGCAATAGACCCAGGGCCCACATGTCCTTCAGACTGGGCCAGGAAGGGCCGATGTGTGCCTGTGAGGCAGCTGTGGGTGGGTGTGGGTGGGTGGGCTGGCATGCGGAGCCCTGCTTTCCTGGCACTGGTCACAGGGGCAGGAGACCACCTGTCGGCTGAGGAGTCCTGTTCCTCCTGGGAGGGGAAAGGCCGTGTTCCCAGTCTGCCATTTCTTTTCTGTGCTTTGGTGCTGGAGCCAGGCGGCCAGCCTTGCCCCTGACACAGTTCCCTCCACTCACAGGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGGTGAGGCCCTGGCCAGGCGTGGGGGCTACGGCGTCACACAGTGTCCACACAGCACCCACGGTCCCCACCCCTCTCGTGAAGTATTTCCAAGGCACACAGAGTACAGAGAACACTCTGACCGATGTGAATTCTACCCAGCTCAACTGAAACTTACGTGTTCCATACTTTTTATCCTGAACTCGTCAAGTGTGTTCCCCCGAGGTAGAAAGAAGGCTGCCACAGTCTCCTGTGCCTCTTCCTGCCATTAGCAATTACCAATGTTTTGTCAGTTTTGTTTAATCTTTTCCCAAGTCTTACACTTTTTTCTTGAACATTTTTTTAAAACAAAGCTTTAATTTTAGAGTAGGAATTTTTTTTTCTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCTCCTGTCTCAGCCTCCCAAGTGTCTGGGATTACAGGCACGCGTCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTTACCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACAGCCCCACGCTGATTATAGTGTTAGATGTAGAAAAGTTGCAGGCGCGGTGCAGAGAGCTCCCTGCCACCCTGCCTCGCTCCCGTGGAGGCCCCCATGGGGCAGTCCTCCCACCTGAGGAGCCCCCGCCGACCCGCGGTGTTGGGTCCACACGTGATTCAGATGTGCTGAGTCTCCCCAGTGTCCTTTCCGGTCTTGGGAGTCCACATGGCGTTTGATCGCCCATCTTCTTAGGCTCCTCTGGGGTGACAGTTCCTCAGACCTCCCTTGTTTTGAGGGCTCTGGCAGTTTTGAGGATTGGTCTCATGTTTTGTAGGACGTTCCTCAGTTGCGATTGTCTGATGTGTTTCTCACAGTGGGCAGAGCTGGAGTGAACGTTTTTGTCCCTGGGTTTGGTAACTGCTGCTTAGAACTCAGGAGAGGTGCACGGCTCTTTGTCCCATGTTGTGAACAGATGGGTAGGCAGTGGATAGGTAGTTGTTTCTTCAGCCTCCCCTTGTGTCTTTCAAGCGAGCACTGTGTGTCACGTGGGGATCGTGTTTGGGGCCCTTAGACTGTCGTCCCCAGCCAGCAGCAGCCGCCTCTGGGCAGGTGTGGGCGGTGCCGTCCCCG
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GTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGCCTCAGCATCGTGGGGTTCTCATTGCTCTGAACCCTCAGTAGCTGTCGCTGGTGTGAGGGGTCAGCGCAGCGGCCATCGGGGGTGAAACTTGTCCTTCGCCTCTCAGCTGTCTTCTACGGGCCTTGTCTTCTTGACTCCCTGCCTGTCTAGTCATGTATGAGAAGACACTTCCCGGCAGTGTGTGAACAGGCACCTGTGGTGGGAACGCTGCTGTCTCTGGGCTGGCCATCTAGAGTGTTAGGATCCCCTGTTGTTGTAGAGGATGCTGCACATTTGCCTTCCTGCTTTGAGACGCTTTAATGACGGAGACCTCTTAGTCCCACACCTTCCTCCTCAAAGCCCACGCATCCTGCCTACTGACCTGGGTCATCTTGACCTTGTGCCAGGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTTTGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGTGAGGAGCAGCGGCGCGGGCCCTGGAGGTTTCAGAGCGCTTTTCCCTGCATGACTCCTTCTGTTCCAGTGCATGCCATGGGGTGAATCTGGTGTAGACGTAGCTTTGAATTTATTAAGTATTTTGTAAAAGATAAGTTGTGGTCATAAGAGAGTTGGAGCTAAGCAAGACTTCTTAGATAATTTAATTGGACAAAAACTTAACCTATATGCCAACTCTAGACACATTTAATTGGTTAATTGTTGGTAATGGCTACAGGAAACGGAATAAAATTGAAGCGGCTTCATTGTTCTGAAGCCATTACTGCACTGGGATATCCAGAGAGCTGAAGGAGGGTCCCGGGGGCCCCTGGGCTCCAGGTCCATGGGTTTGCCTCGCATAGGCCTGGGCTTGTGCTTGAGAACTGCCATGCAGTGAGCTCCAGTATGCCCCCGGGTTCTAGATTTCCAAATAAAAGAGCATTTCGGAAAGTTTTAAGACTCTCTTAAGGAACAGTGGTGAGGTGCCAACGTCCTCACTGTCCAGCTTCACGGTGGGTCCTCGGGAGGAAGGGGATGGAGGTGGTGCTGCCTCAGTGCTCTGACCGGGACACCTGGGGCCCAGCACTGCTCTGCGCCTGCAGTGCTGAGGATGCCTCTGTCTCGACCCCGCCCTCCAGGGGCACAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCATCGGGCGGCGCCCCTTCACCCAAGGCCTGCAGCAGATGATGGACCATGTGAGTCGGCTCTGGCCACACCGCTGCCCTCTGTGCTCCCCGGGGAGGGAGTCCCTGGGTCTACCACACAAGGGTCGCCCACGGCCGCCCCAGCGGAGCTCAGCTGCAGGCCCCACCTGGGTTTCTTCCTTCTGGGCTCTGCTGTAGTTCCCACCTGTGGAGTATTTTCTTCTCAAATGAGGACATAGATGCTCCTAATGAAATTATAGATGTGAATCTGGGAAGAATATCAAATAAATACACCGAGCAATAGACCCAGGGCCCACATGTCCTTCAGACTGGGCCAGGAAGGGCCGATGTGTGCCTGTGAGGCAGCTGTGGGTGGGTGTGGGTGGGTGGGCTGGCATGCGGAGCCCTGCTTTCCTGGCACTGGTCACAGGGGCAGGAGACCACCTGTCGGCTGAGGAGTCCTGTTCCTCCTGGGAGGGGAAAGGCCGTGTTCCCAGTCTGCCATTTCTTTTCTGTGCTTTGGTGCTGGAGCCAGGCGGCCAGCCTTGCCCCTGACACAGTTCCCTCCACTCACAGGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGGTGAGGCCCTGGCCAGGCGTGGGGGCTACGGCGTCACACAGTGTCCACACAGCACCCACGGTCCCCACCCCTCTCGTGAAGTATTTCCAAGGCACACAGAGTACAGAGAACACTCTGACCGATGTGAATTCTACCCAGCTCAACTGAAACTTACGTGTTCCATACTTTTTATCCTGAACTCGTCAAGTGTGTTCCCCCGAGGTAGAAAGAAGGCTGCCACAGTCTCCTGTGCCTCTTCCTGCCATTAGCAATTACCAATGTTTTGTCAGTTTTGTTTAATCTTTTCCCAAGTCTTACACTTTTTTCTTGAACATTTTTTTAAAACAAAGCTTTAATTTTAGAGTAGGAATTTTTTTTTCTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCTCCTGTCTCAGCCTCCCAAGTGTCTGGGATTACAGGCACGCGTCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTTACCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACAGCCCCACGCTGATTATAGTGTTAGATGTAGAAAAGTTGCAGGCGCGGTGCAGAGAGCTCCCTGCCACCCTGCCTCGCTCCCGTGGAGGCCCCCATGGGGCAGTCCTCCCACCTGAGGAGCCCCCGCCGACCCGCGGTGTTGGGTCCACACGTGATTCAGATGTGCTGAGTCTCCCCAGTGTCCTTTCCGGTCTTGGGAGTCCACATGGCGTTTGATCGCCCATCTTCTTAGGCTCCTCTGGGGTGACAGTTCCTCAGACCTCCCTTGTTTTGAGGGCTCTGGCAGTTTTGAGGATTGGTCTCATGTTTTGTAGGACGTTCCTCAGTTGCGATTGTCTGATGTGTTTCTCACAGTGGGCAGAGCTGGAGTGAACGTTTTTGTCCCTGGGTTTGGTAACTGCTGCTTAGAACTCAGGAGAGGTGCACGGCTCTTTGTCCCATGTTGTGAACAGATGGGTAGGCAGTGGATAGGTAGTTGTTTCTTCAGCCTCCCCTTGTGTCTTTCAAGCGAGCACTGTGTGTCACGTGGGGATCGTGTTTGGGGCCCTTAGACTGTCGTCCCCAGCCAGCAGCAGCCGCCTCTGGGCAGGTGTGGGCGGTGCCGTCCCCG
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Task1_train_23076
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This variant affects gene RPL13 (ribosomal protein L13) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
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Pathogenic; Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
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TGCGCGCGCCCGGGGTCCGGCCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCAGACGTAAGGCCCGGCAAGCCAAGGCGCGCCGCATCGCCCCGCGCCCCGCGTCGGGTCCCATCCGGCCCATCGTGCGCTGCCCCACGGTTCGGTACCACACGAAGGTGCGCGCCGGCCGCGGCTTCAGCCTGGAGGAGCTCAGGGTGAGTACTGGCAGCGCTGCGGTGTCAGGAAGGCCCCGAAGTCCCCTCTGTTGGCCTCAGTCGCGTGATGACATTCTCCGGAATCGCTGTACGGCCTTGATGAAAGCACATTTGAACCCTTTTCCATCTGATTGCTGAGGCTTTTCATCCAGGCCTCGGGGCTGGAGAAAGCCCGGGCCTGTCTCCATCTCTCTCTGGTTCTGGGGCAGGTGGCCGGCATTCACAAGAAGGTGGCCCGGACCATCGGCATTTCTGTGGATCCGAGGAGGCGGAACAAGTCCACGGAGTCCCTGCAGGCCAACGTGCAGCGGCTGAAGGAGTACCGCTCCAAACTCATCCTCTTCCCCAGGAAGCCCTCGGCCCCCAAGAAGGGAGACAGTTCTGTGAGTACACGGCTCTCTGGCCGTCCTGGTGCGCGGGGACAGTGAGGCTTGGCTCCTTTATCAGTGACACCGGTCCCTGGGTCTTGCTGGGGTGAGAAGAACCAAAACATTGTGGGTGATGAGCTAAGCGGGACTGCTAAGGTTCACCTGTGCGTTTCCGCAGAGATAACCTTAATGGACATGGCAAGGCTGTGTGACTTGGAGGCAGCTTTTTCCATTGACGTTGCTCTCCCTAAAATGCTTCGTATTCCAAAATATTTCTAGAAAGACCTTGTAGGATAAGGTTGATAAAGAGTCCATTGTATACGTTTCCGGGTAGTTAAATTAGGGAACAGTTTTCTCTGCCCCGCCCGTGGTTCACAGGTAGATAACTGTCTCGTGCGTGTTGCGTCAACTCAGTAAGATATAGTCACCTAACTAATAAGGACTGTTCTTAACATTGGGGCCACAAAGTGTGTTGTAGAAAAGGCTCAGACACTGGTCCTGAACACGGAATCCCCAGGGGAAAGTTTGGGGCCAGGTGAGGGTGGAGTCCTTGCAGCAGTGCGGCCAACCCCACTTAACTCTTCTCATTCACCAACAGGCTGAAGAACTGAAACTGGCCACCCAGCTGACCGGACCGGTCATGCCCGTCCGGAACGTAAGTGAACACTTACTCAAATCCAGGCTTCAGACGAGATCAGTGGGTGAACACGTGGGTATCTGAGATGCGGGTGATGGGGGTCAGGCTTAAGAACGTTAATAGTGGCAGTTGTGGGTGTGGAGGTTTGCGGAAAGGAACATTTCTTCTTAGTTTTTACTTCTTGCAACCATGAAGCCATACATTGGGAAGTATTTTTGTTTGTTTTGTGTTTTTTTGTTGTTGTTGGAAAGAGAGTTTCTCTATGCTGCTTACATTGGTTTTGAATTGCTGGGTTTACAGGCTTGAGCCGCCATGTCCAGCTCAGGGAGGGTTTTTCTTTTTTTTTTTAAATCCCAGGGAAGGTGATTGACTCAGGGTTGCTTTTCAGCAGTACTTATGGCAGCGAACCTGACCCCCAATCCCCGGGAGGTCCTCCAGGTTCTCCTGACGCTTGGTTGTTCCCTTGCCCTTTGGTGCATGTGGGTTTAACAACCTGTCTTTCTCTTCTAGGTCTATAAGAAGGAGAAAGCTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGCCTTCGCTAGTCTCCGTATGGCCCGTGCCAACGCCCGGCTCTTCGGCATACGGGCAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAAGAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGCTGGGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTGGGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGCTTTCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTTCTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACGGTTTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGACTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAGCTGTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACCAGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATGCTTGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGAGGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGATCACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCTCAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACAGTGCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCTCAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGAGACCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCAGTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGCTTGTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACCCTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCCCTGCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAAAGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCAGGGTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTCCGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTAGTCCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTATGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTCTGTTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCACCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTGCTGCTGCACTCACAGCCACACTTGATACACGATGACACCTTGCTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTGGCTACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGATCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGCCGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAATACAAAAATTAGCTGAGTGGTGACACACGCCTGTAATCCCAGCTACTTGGTAGGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGCTGCACCACTGTGCTCCAGCCTGGGTGACAGCGAGACTCAGTCTCAAAAAAAGTTGTACAAGGTGGATGGTTGGAAGCTTGAGCCTAGGCTCGAATCCCTCTCACGTGAGAGGGCCTGAAGATTTCTGGTGGATTCCAACCTGGCTGAAGACTGGCCGTGGGGGGTGCAGGGGTCTCCAGCGCTCTGCCCTCCAGCCTGCTTCCTCCCTGCCCACACCGCACTAGGGGAAGGGCCTTTCCTGCTGCCTGCGGGGCCGCACCTGGAGTAGGTAATGCCATGTGGTGACGTGAATGGAGCAGAGGTCTGTGCCCCATCACACCGCCTTGCTGTTTTTACTGTGGGACAAAAGCACTCTGATCTGCGTGTTCCGGGGGCC
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TGCGCGCGCCCGGGGTCCGGCCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCAGACGTAAGGCCCGGCAAGCCAAGGCGCGCCGCATCGCCCCGCGCCCCGCGTCGGGTCCCATCCGGCCCATCGTGCGCTGCCCCACGGTTCGGTACCACACGAAGGTGCGCGCCGGCCGCGGCTTCAGCCTGGAGGAGCTCAGGGTGAGTACTGGCAGCGCTGCGGTGTCAGGAAGGCCCCGAAGTCCCCTCTGTTGGCCTCAGTCGCGTGATGACATTCTCCGGAATCGCTGTACGGCCTTGATGAAAGCACATTTGAACCCTTTTCCATCTGATTGCTGAGGCTTTTCATCCAGGCCTCGGGGCTGGAGAAAGCCCGGGCCTGTCTCCATCTCTCTCTGGTTCTGGGGCAGGTGGCCGGCATTCACAAGAAGGTGGCCCGGACCATCGGCATTTCTGTGGATCCGAGGAGGCGGAACAAGTCCACGGAGTCCCTGCAGGCCAACGTGCAGCGGCTGAAGGAGTACCGCTCCAAACTCATCCTCTTCCCCAGGAAGCCCTCGGCCCCCAAGAAGGGAGACAGTTCTGTGAGTACACGGCTCTCTGGCCGTCCTGGTGCGCGGGGACAGTGAGGCTTGGCTCCTTTATCAGTGACACCGGTCCCTGGGTCTTGCTGGGGTGAGAAGAACCAAAACATTGTGGGTGATGAGCTAAGCGGGACTGCTAAGGTTCACCTGTGCGTTTCCGCAGAGATAACCTTAATGGACATGGCAAGGCTGTGTGACTTGGAGGCAGCTTTTTCCATTGACGTTGCTCTCCCTAAAATGCTTCGTATTCCAAAATATTTCTAGAAAGACCTTGTAGGATAAGGTTGATAAAGAGTCCATTGTATACGTTTCCGGGTAGTTAAATTAGGGAACAGTTTTCTCTGCCCCGCCCGTGGTTCACAGGTAGATAACTGTCTCGTGCGTGTTGCGTCAACTCAGTAAGATATAGTCACCTAACTAATAAGGACTGTTCTTAACATTGGGGCCACAAAGTGTGTTGTAGAAAAGGCTCAGACACTGGTCCTGAACACGGAATCCCCAGGGGAAAGTTTGGGGCCAGGTGAGGGTGGAGTCCTTGCAGCAGTGCGGCCAACCCCACTTAACTCTTCTCATTCACCAACAGGCTGAAGAACTGAAACTGGCCACCCAGCTGACCGGACCGGTCATGCCCGTCCGGAACGTAAGTGAACACTTACTCAAATCCAGGCTTCAGACGAGATCAGTGGGTGAACACGTGGGTATCTGAGATGCGGGTGATGGGGGTCAGGCTTAAGAACGTTAATAGTGGCAGTTGTGGGTGTGGAGGTTTGCGGAAAGGAACATTTCTTCTTAGTTTTTACTTCTTGCAACCATGAAGCCATACATTGGGAAGTATTTTTGTTTGTTTTGTGTTTTTTTGTTGTTGTTGGAAAGAGAGTTTCTCTATGCTGCTTACATTGGTTTTGAATTGCTGGGTTTACAGGCTTGAGCCGCCATGTCCAGCTCAGGGAGGGTTTTTCTTTTTTTTTTTAAATCCCAGGGAAGGTGATTGACTCAGGGTTGCTTTTCAGCAGTACTTATGGCAGCGAACCTGACCCCCAATCCCCGGGAGGTCCTCCAGGTTCTCCTGACGCTTGGTTGTTCCCTTGCCCTTTGGTGCATGTGGGTTTAACAACCTGTCTTTCTCTTCTAGGTCTATAAGAAGGAGAAAGCTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGACTTCGCTAGTCTCCGTATGGCCCGTGCCAACGCCCGGCTCTTCGGCATACGGGCAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAAGAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGCTGGGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTGGGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGCTTTCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTTCTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACGGTTTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGACTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAGCTGTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACCAGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATGCTTGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGAGGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGATCACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCTCAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACAGTGCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCTCAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGAGACCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCAGTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGCTTGTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACCCTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCCCTGCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAAAGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCAGGGTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTCCGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTAGTCCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTATGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTCTGTTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCACCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTGCTGCTGCACTCACAGCCACACTTGATACACGATGACACCTTGCTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTGGCTACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGATCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGCCGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAATACAAAAATTAGCTGAGTGGTGACACACGCCTGTAATCCCAGCTACTTGGTAGGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGCTGCACCACTGTGCTCCAGCCTGGGTGACAGCGAGACTCAGTCTCAAAAAAAGTTGTACAAGGTGGATGGTTGGAAGCTTGAGCCTAGGCTCGAATCCCTCTCACGTGAGAGGGCCTGAAGATTTCTGGTGGATTCCAACCTGGCTGAAGACTGGCCGTGGGGGGTGCAGGGGTCTCCAGCGCTCTGCCCTCCAGCCTGCTTCCTCCCTGCCCACACCGCACTAGGGGAAGGGCCTTTCCTGCTGCCTGCGGGGCCGCACCTGGAGTAGGTAATGCCATGTGGTGACGTGAATGGAGCAGAGGTCTGTGCCCCATCACACCGCCTTGCTGTTTTTACTGTGGGACAAAAGCACTCTGATCTGCGTGTTCCGGGGGCC
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Task1_train_23077
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This mutation occurs in RPL13 (ribosomal protein L13) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
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TCCGGCCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCAGACGTAAGGCCCGGCAAGCCAAGGCGCGCCGCATCGCCCCGCGCCCCGCGTCGGGTCCCATCCGGCCCATCGTGCGCTGCCCCACGGTTCGGTACCACACGAAGGTGCGCGCCGGCCGCGGCTTCAGCCTGGAGGAGCTCAGGGTGAGTACTGGCAGCGCTGCGGTGTCAGGAAGGCCCCGAAGTCCCCTCTGTTGGCCTCAGTCGCGTGATGACATTCTCCGGAATCGCTGTACGGCCTTGATGAAAGCACATTTGAACCCTTTTCCATCTGATTGCTGAGGCTTTTCATCCAGGCCTCGGGGCTGGAGAAAGCCCGGGCCTGTCTCCATCTCTCTCTGGTTCTGGGGCAGGTGGCCGGCATTCACAAGAAGGTGGCCCGGACCATCGGCATTTCTGTGGATCCGAGGAGGCGGAACAAGTCCACGGAGTCCCTGCAGGCCAACGTGCAGCGGCTGAAGGAGTACCGCTCCAAACTCATCCTCTTCCCCAGGAAGCCCTCGGCCCCCAAGAAGGGAGACAGTTCTGTGAGTACACGGCTCTCTGGCCGTCCTGGTGCGCGGGGACAGTGAGGCTTGGCTCCTTTATCAGTGACACCGGTCCCTGGGTCTTGCTGGGGTGAGAAGAACCAAAACATTGTGGGTGATGAGCTAAGCGGGACTGCTAAGGTTCACCTGTGCGTTTCCGCAGAGATAACCTTAATGGACATGGCAAGGCTGTGTGACTTGGAGGCAGCTTTTTCCATTGACGTTGCTCTCCCTAAAATGCTTCGTATTCCAAAATATTTCTAGAAAGACCTTGTAGGATAAGGTTGATAAAGAGTCCATTGTATACGTTTCCGGGTAGTTAAATTAGGGAACAGTTTTCTCTGCCCCGCCCGTGGTTCACAGGTAGATAACTGTCTCGTGCGTGTTGCGTCAACTCAGTAAGATATAGTCACCTAACTAATAAGGACTGTTCTTAACATTGGGGCCACAAAGTGTGTTGTAGAAAAGGCTCAGACACTGGTCCTGAACACGGAATCCCCAGGGGAAAGTTTGGGGCCAGGTGAGGGTGGAGTCCTTGCAGCAGTGCGGCCAACCCCACTTAACTCTTCTCATTCACCAACAGGCTGAAGAACTGAAACTGGCCACCCAGCTGACCGGACCGGTCATGCCCGTCCGGAACGTAAGTGAACACTTACTCAAATCCAGGCTTCAGACGAGATCAGTGGGTGAACACGTGGGTATCTGAGATGCGGGTGATGGGGGTCAGGCTTAAGAACGTTAATAGTGGCAGTTGTGGGTGTGGAGGTTTGCGGAAAGGAACATTTCTTCTTAGTTTTTACTTCTTGCAACCATGAAGCCATACATTGGGAAGTATTTTTGTTTGTTTTGTGTTTTTTTGTTGTTGTTGGAAAGAGAGTTTCTCTATGCTGCTTACATTGGTTTTGAATTGCTGGGTTTACAGGCTTGAGCCGCCATGTCCAGCTCAGGGAGGGTTTTTCTTTTTTTTTTTAAATCCCAGGGAAGGTGATTGACTCAGGGTTGCTTTTCAGCAGTACTTATGGCAGCGAACCTGACCCCCAATCCCCGGGAGGTCCTCCAGGTTCTCCTGACGCTTGGTTGTTCCCTTGCCCTTTGGTGCATGTGGGTTTAACAACCTGTCTTTCTCTTCTAGGTCTATAAGAAGGAGAAAGCTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGCCTTCGCTAGTCTCCGTATGGCCCGTGCCAACGCCCGGCTCTTCGGCATACGGGCAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAAGAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGCTGGGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTGGGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGCTTTCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTTCTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACGGTTTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGACTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAGCTGTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACCAGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATGCTTGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGAGGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGATCACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCTCAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACAGTGCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCTCAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGAGACCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCAGTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGCTTGTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACCCTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCCCTGCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAAAGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCAGGGTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTCCGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTAGTCCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTATGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTCTGTTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCACCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTGCTGCTGCACTCACAGCCACACTTGATACACGATGACACCTTGCTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTGGCTACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGATCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGCCGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAATACAAAAATTAGCTGAGTGGTGACACACGCCTGTAATCCCAGCTACTTGGTAGGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGCTGCACCACTGTGCTCCAGCCTGGGTGACAGCGAGACTCAGTCTCAAAAAAAGTTGTACAAGGTGGATGGTTGGAAGCTTGAGCCTAGGCTCGAATCCCTCTCACGTGAGAGGGCCTGAAGATTTCTGGTGGATTCCAACCTGGCTGAAGACTGGCCGTGGGGGGTGCAGGGGTCTCCAGCGCTCTGCCCTCCAGCCTGCTTCCTCCCTGCCCACACCGCACTAGGGGAAGGGCCTTTCCTGCTGCCTGCGGGGCCGCACCTGGAGTAGGTAATGCCATGTGGTGACGTGAATGGAGCAGAGGTCTGTGCCCCATCACACCGCCTTGCTGTTTTTACTGTGGGACAAAAGCACTCTGATCTGCGTGTTCCGGGGGCCCTCCTACCAGCCGAC
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TCCGGCCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCAGACGTAAGGCCCGGCAAGCCAAGGCGCGCCGCATCGCCCCGCGCCCCGCGTCGGGTCCCATCCGGCCCATCGTGCGCTGCCCCACGGTTCGGTACCACACGAAGGTGCGCGCCGGCCGCGGCTTCAGCCTGGAGGAGCTCAGGGTGAGTACTGGCAGCGCTGCGGTGTCAGGAAGGCCCCGAAGTCCCCTCTGTTGGCCTCAGTCGCGTGATGACATTCTCCGGAATCGCTGTACGGCCTTGATGAAAGCACATTTGAACCCTTTTCCATCTGATTGCTGAGGCTTTTCATCCAGGCCTCGGGGCTGGAGAAAGCCCGGGCCTGTCTCCATCTCTCTCTGGTTCTGGGGCAGGTGGCCGGCATTCACAAGAAGGTGGCCCGGACCATCGGCATTTCTGTGGATCCGAGGAGGCGGAACAAGTCCACGGAGTCCCTGCAGGCCAACGTGCAGCGGCTGAAGGAGTACCGCTCCAAACTCATCCTCTTCCCCAGGAAGCCCTCGGCCCCCAAGAAGGGAGACAGTTCTGTGAGTACACGGCTCTCTGGCCGTCCTGGTGCGCGGGGACAGTGAGGCTTGGCTCCTTTATCAGTGACACCGGTCCCTGGGTCTTGCTGGGGTGAGAAGAACCAAAACATTGTGGGTGATGAGCTAAGCGGGACTGCTAAGGTTCACCTGTGCGTTTCCGCAGAGATAACCTTAATGGACATGGCAAGGCTGTGTGACTTGGAGGCAGCTTTTTCCATTGACGTTGCTCTCCCTAAAATGCTTCGTATTCCAAAATATTTCTAGAAAGACCTTGTAGGATAAGGTTGATAAAGAGTCCATTGTATACGTTTCCGGGTAGTTAAATTAGGGAACAGTTTTCTCTGCCCCGCCCGTGGTTCACAGGTAGATAACTGTCTCGTGCGTGTTGCGTCAACTCAGTAAGATATAGTCACCTAACTAATAAGGACTGTTCTTAACATTGGGGCCACAAAGTGTGTTGTAGAAAAGGCTCAGACACTGGTCCTGAACACGGAATCCCCAGGGGAAAGTTTGGGGCCAGGTGAGGGTGGAGTCCTTGCAGCAGTGCGGCCAACCCCACTTAACTCTTCTCATTCACCAACAGGCTGAAGAACTGAAACTGGCCACCCAGCTGACCGGACCGGTCATGCCCGTCCGGAACGTAAGTGAACACTTACTCAAATCCAGGCTTCAGACGAGATCAGTGGGTGAACACGTGGGTATCTGAGATGCGGGTGATGGGGGTCAGGCTTAAGAACGTTAATAGTGGCAGTTGTGGGTGTGGAGGTTTGCGGAAAGGAACATTTCTTCTTAGTTTTTACTTCTTGCAACCATGAAGCCATACATTGGGAAGTATTTTTGTTTGTTTTGTGTTTTTTTGTTGTTGTTGGAAAGAGAGTTTCTCTATGCTGCTTACATTGGTTTTGAATTGCTGGGTTTACAGGCTTGAGCCGCCATGTCCAGCTCAGGGAGGGTTTTTCTTTTTTTTTTTAAATCCCAGGGAAGGTGATTGACTCAGGGTTGCTTTTCAGCAGTACTTATGGCAGCGAACCTGACCCCCAATCCCCGGGAGGTCCTCCAGGTTCTCCTGACGCTTGGTTGTTCCCTTGCCCTTTGGTGCATGTGGGTTTAACAACCTGTCTTTCTCTTCTAGGTCTATAAGAAGGAGAAAGCTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGCCTTCGCTAGTCTCCCTATGGCCCGTGCCAACGCCCGGCTCTTCGGCATACGGGCAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAAGAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGCTGGGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTGGGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGCTTTCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTTCTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACGGTTTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGACTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAGCTGTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACCAGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATGCTTGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGAGGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGATCACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCTCAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACAGTGCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCTCAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGAGACCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCAGTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGCTTGTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACCCTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCCCTGCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAAAGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCAGGGTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTCCGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTAGTCCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTATGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTCTGTTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCACCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTGCTGCTGCACTCACAGCCACACTTGATACACGATGACACCTTGCTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTGGCTACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGATCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGCCGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAATACAAAAATTAGCTGAGTGGTGACACACGCCTGTAATCCCAGCTACTTGGTAGGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGCTGCACCACTGTGCTCCAGCCTGGGTGACAGCGAGACTCAGTCTCAAAAAAAGTTGTACAAGGTGGATGGTTGGAAGCTTGAGCCTAGGCTCGAATCCCTCTCACGTGAGAGGGCCTGAAGATTTCTGGTGGATTCCAACCTGGCTGAAGACTGGCCGTGGGGGGTGCAGGGGTCTCCAGCGCTCTGCCCTCCAGCCTGCTTCCTCCCTGCCCACACCGCACTAGGGGAAGGGCCTTTCCTGCTGCCTGCGGGGCCGCACCTGGAGTAGGTAATGCCATGTGGTGACGTGAATGGAGCAGAGGTCTGTGCCCCATCACACCGCCTTGCTGTTTTTACTGTGGGACAAAAGCACTCTGATCTGCGTGTTCCGGGGGCCCTCCTACCAGCCGAC
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Task1_train_23078
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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?
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Pathogenic; Spondyloepimetaphyseal dysplasia
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TCCGGCCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCAGACGTAAGGCCCGGCAAGCCAAGGCGCGCCGCATCGCCCCGCGCCCCGCGTCGGGTCCCATCCGGCCCATCGTGCGCTGCCCCACGGTTCGGTACCACACGAAGGTGCGCGCCGGCCGCGGCTTCAGCCTGGAGGAGCTCAGGGTGAGTACTGGCAGCGCTGCGGTGTCAGGAAGGCCCCGAAGTCCCCTCTGTTGGCCTCAGTCGCGTGATGACATTCTCCGGAATCGCTGTACGGCCTTGATGAAAGCACATTTGAACCCTTTTCCATCTGATTGCTGAGGCTTTTCATCCAGGCCTCGGGGCTGGAGAAAGCCCGGGCCTGTCTCCATCTCTCTCTGGTTCTGGGGCAGGTGGCCGGCATTCACAAGAAGGTGGCCCGGACCATCGGCATTTCTGTGGATCCGAGGAGGCGGAACAAGTCCACGGAGTCCCTGCAGGCCAACGTGCAGCGGCTGAAGGAGTACCGCTCCAAACTCATCCTCTTCCCCAGGAAGCCCTCGGCCCCCAAGAAGGGAGACAGTTCTGTGAGTACACGGCTCTCTGGCCGTCCTGGTGCGCGGGGACAGTGAGGCTTGGCTCCTTTATCAGTGACACCGGTCCCTGGGTCTTGCTGGGGTGAGAAGAACCAAAACATTGTGGGTGATGAGCTAAGCGGGACTGCTAAGGTTCACCTGTGCGTTTCCGCAGAGATAACCTTAATGGACATGGCAAGGCTGTGTGACTTGGAGGCAGCTTTTTCCATTGACGTTGCTCTCCCTAAAATGCTTCGTATTCCAAAATATTTCTAGAAAGACCTTGTAGGATAAGGTTGATAAAGAGTCCATTGTATACGTTTCCGGGTAGTTAAATTAGGGAACAGTTTTCTCTGCCCCGCCCGTGGTTCACAGGTAGATAACTGTCTCGTGCGTGTTGCGTCAACTCAGTAAGATATAGTCACCTAACTAATAAGGACTGTTCTTAACATTGGGGCCACAAAGTGTGTTGTAGAAAAGGCTCAGACACTGGTCCTGAACACGGAATCCCCAGGGGAAAGTTTGGGGCCAGGTGAGGGTGGAGTCCTTGCAGCAGTGCGGCCAACCCCACTTAACTCTTCTCATTCACCAACAGGCTGAAGAACTGAAACTGGCCACCCAGCTGACCGGACCGGTCATGCCCGTCCGGAACGTAAGTGAACACTTACTCAAATCCAGGCTTCAGACGAGATCAGTGGGTGAACACGTGGGTATCTGAGATGCGGGTGATGGGGGTCAGGCTTAAGAACGTTAATAGTGGCAGTTGTGGGTGTGGAGGTTTGCGGAAAGGAACATTTCTTCTTAGTTTTTACTTCTTGCAACCATGAAGCCATACATTGGGAAGTATTTTTGTTTGTTTTGTGTTTTTTTGTTGTTGTTGGAAAGAGAGTTTCTCTATGCTGCTTACATTGGTTTTGAATTGCTGGGTTTACAGGCTTGAGCCGCCATGTCCAGCTCAGGGAGGGTTTTTCTTTTTTTTTTTAAATCCCAGGGAAGGTGATTGACTCAGGGTTGCTTTTCAGCAGTACTTATGGCAGCGAACCTGACCCCCAATCCCCGGGAGGTCCTCCAGGTTCTCCTGACGCTTGGTTGTTCCCTTGCCCTTTGGTGCATGTGGGTTTAACAACCTGTCTTTCTCTTCTAGGTCTATAAGAAGGAGAAAGCTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGCCTTCGCTAGTCTCCGTATGGCCCGTGCCAACGCCCGGCTCTTCGGCATACGGGCAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAAGAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGCTGGGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTGGGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGCTTTCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTTCTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACGGTTTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGACTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAGCTGTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACCAGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATGCTTGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGAGGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGATCACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCTCAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACAGTGCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCTCAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGAGACCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCAGTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGCTTGTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACCCTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCCCTGCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAAAGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCAGGGTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTCCGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTAGTCCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTATGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTCTGTTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCACCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTGCTGCTGCACTCACAGCCACACTTGATACACGATGACACCTTGCTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTGGCTACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGATCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGCCGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAATACAAAAATTAGCTGAGTGGTGACACACGCCTGTAATCCCAGCTACTTGGTAGGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGCTGCACCACTGTGCTCCAGCCTGGGTGACAGCGAGACTCAGTCTCAAAAAAAGTTGTACAAGGTGGATGGTTGGAAGCTTGAGCCTAGGCTCGAATCCCTCTCACGTGAGAGGGCCTGAAGATTTCTGGTGGATTCCAACCTGGCTGAAGACTGGCCGTGGGGGGTGCAGGGGTCTCCAGCGCTCTGCCCTCCAGCCTGCTTCCTCCCTGCCCACACCGCACTAGGGGAAGGGCCTTTCCTGCTGCCTGCGGGGCCGCACCTGGAGTAGGTAATGCCATGTGGTGACGTGAATGGAGCAGAGGTCTGTGCCCCATCACACCGCCTTGCTGTTTTTACTGTGGGACAAAAGCACTCTGATCTGCGTGTTCCGGGGGCCCTCCTACCAGCCGAC
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TCCGGCCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCAGACGTAAGGCCCGGCAAGCCAAGGCGCGCCGCATCGCCCCGCGCCCCGCGTCGGGTCCCATCCGGCCCATCGTGCGCTGCCCCACGGTTCGGTACCACACGAAGGTGCGCGCCGGCCGCGGCTTCAGCCTGGAGGAGCTCAGGGTGAGTACTGGCAGCGCTGCGGTGTCAGGAAGGCCCCGAAGTCCCCTCTGTTGGCCTCAGTCGCGTGATGACATTCTCCGGAATCGCTGTACGGCCTTGATGAAAGCACATTTGAACCCTTTTCCATCTGATTGCTGAGGCTTTTCATCCAGGCCTCGGGGCTGGAGAAAGCCCGGGCCTGTCTCCATCTCTCTCTGGTTCTGGGGCAGGTGGCCGGCATTCACAAGAAGGTGGCCCGGACCATCGGCATTTCTGTGGATCCGAGGAGGCGGAACAAGTCCACGGAGTCCCTGCAGGCCAACGTGCAGCGGCTGAAGGAGTACCGCTCCAAACTCATCCTCTTCCCCAGGAAGCCCTCGGCCCCCAAGAAGGGAGACAGTTCTGTGAGTACACGGCTCTCTGGCCGTCCTGGTGCGCGGGGACAGTGAGGCTTGGCTCCTTTATCAGTGACACCGGTCCCTGGGTCTTGCTGGGGTGAGAAGAACCAAAACATTGTGGGTGATGAGCTAAGCGGGACTGCTAAGGTTCACCTGTGCGTTTCCGCAGAGATAACCTTAATGGACATGGCAAGGCTGTGTGACTTGGAGGCAGCTTTTTCCATTGACGTTGCTCTCCCTAAAATGCTTCGTATTCCAAAATATTTCTAGAAAGACCTTGTAGGATAAGGTTGATAAAGAGTCCATTGTATACGTTTCCGGGTAGTTAAATTAGGGAACAGTTTTCTCTGCCCCGCCCGTGGTTCACAGGTAGATAACTGTCTCGTGCGTGTTGCGTCAACTCAGTAAGATATAGTCACCTAACTAATAAGGACTGTTCTTAACATTGGGGCCACAAAGTGTGTTGTAGAAAAGGCTCAGACACTGGTCCTGAACACGGAATCCCCAGGGGAAAGTTTGGGGCCAGGTGAGGGTGGAGTCCTTGCAGCAGTGCGGCCAACCCCACTTAACTCTTCTCATTCACCAACAGGCTGAAGAACTGAAACTGGCCACCCAGCTGACCGGACCGGTCATGCCCGTCCGGAACGTAAGTGAACACTTACTCAAATCCAGGCTTCAGACGAGATCAGTGGGTGAACACGTGGGTATCTGAGATGCGGGTGATGGGGGTCAGGCTTAAGAACGTTAATAGTGGCAGTTGTGGGTGTGGAGGTTTGCGGAAAGGAACATTTCTTCTTAGTTTTTACTTCTTGCAACCATGAAGCCATACATTGGGAAGTATTTTTGTTTGTTTTGTGTTTTTTTGTTGTTGTTGGAAAGAGAGTTTCTCTATGCTGCTTACATTGGTTTTGAATTGCTGGGTTTACAGGCTTGAGCCGCCATGTCCAGCTCAGGGAGGGTTTTTCTTTTTTTTTTTAAATCCCAGGGAAGGTGATTGACTCAGGGTTGCTTTTCAGCAGTACTTATGGCAGCGAACCTGACCCCCAATCCCCGGGAGGTCCTCCAGGTTCTCCTGACGCTTGGTTGTTCCCTTGCCCTTTGGTGCATGTGGGTTTAACAACCTGTCTTTCTCTTCTAGGTCTATAAGAAGGAGAAAGCTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGCCTTCGCTAGTCTCCTTATGGCCCGTGCCAACGCCCGGCTCTTCGGCATACGGGCAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAAGAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGCTGGGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTGGGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGCTTTCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTTCTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACGGTTTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGACTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAGCTGTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACCAGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATGCTTGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGAGGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGATCACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCTCAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACAGTGCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCTCAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGAGACCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCAGTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGCTTGTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACCCTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCCCTGCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAAAGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCAGGGTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTCCGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTAGTCCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTATGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTCTGTTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCACCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTGCTGCTGCACTCACAGCCACACTTGATACACGATGACACCTTGCTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTGGCTACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGATCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGCCGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAATACAAAAATTAGCTGAGTGGTGACACACGCCTGTAATCCCAGCTACTTGGTAGGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGCTGCACCACTGTGCTCCAGCCTGGGTGACAGCGAGACTCAGTCTCAAAAAAAGTTGTACAAGGTGGATGGTTGGAAGCTTGAGCCTAGGCTCGAATCCCTCTCACGTGAGAGGGCCTGAAGATTTCTGGTGGATTCCAACCTGGCTGAAGACTGGCCGTGGGGGGTGCAGGGGTCTCCAGCGCTCTGCCCTCCAGCCTGCTTCCTCCCTGCCCACACCGCACTAGGGGAAGGGCCTTTCCTGCTGCCTGCGGGGCCGCACCTGGAGTAGGTAATGCCATGTGGTGACGTGAATGGAGCAGAGGTCTGTGCCCCATCACACCGCCTTGCTGTTTTTACTGTGGGACAAAAGCACTCTGATCTGCGTGTTCCGGGGGCCCTCCTACCAGCCGAC
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Task1_train_23079
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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.
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Pathogenic; Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
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CCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCAGACGTAAGGCCCGGCAAGCCAAGGCGCGCCGCATCGCCCCGCGCCCCGCGTCGGGTCCCATCCGGCCCATCGTGCGCTGCCCCACGGTTCGGTACCACACGAAGGTGCGCGCCGGCCGCGGCTTCAGCCTGGAGGAGCTCAGGGTGAGTACTGGCAGCGCTGCGGTGTCAGGAAGGCCCCGAAGTCCCCTCTGTTGGCCTCAGTCGCGTGATGACATTCTCCGGAATCGCTGTACGGCCTTGATGAAAGCACATTTGAACCCTTTTCCATCTGATTGCTGAGGCTTTTCATCCAGGCCTCGGGGCTGGAGAAAGCCCGGGCCTGTCTCCATCTCTCTCTGGTTCTGGGGCAGGTGGCCGGCATTCACAAGAAGGTGGCCCGGACCATCGGCATTTCTGTGGATCCGAGGAGGCGGAACAAGTCCACGGAGTCCCTGCAGGCCAACGTGCAGCGGCTGAAGGAGTACCGCTCCAAACTCATCCTCTTCCCCAGGAAGCCCTCGGCCCCCAAGAAGGGAGACAGTTCTGTGAGTACACGGCTCTCTGGCCGTCCTGGTGCGCGGGGACAGTGAGGCTTGGCTCCTTTATCAGTGACACCGGTCCCTGGGTCTTGCTGGGGTGAGAAGAACCAAAACATTGTGGGTGATGAGCTAAGCGGGACTGCTAAGGTTCACCTGTGCGTTTCCGCAGAGATAACCTTAATGGACATGGCAAGGCTGTGTGACTTGGAGGCAGCTTTTTCCATTGACGTTGCTCTCCCTAAAATGCTTCGTATTCCAAAATATTTCTAGAAAGACCTTGTAGGATAAGGTTGATAAAGAGTCCATTGTATACGTTTCCGGGTAGTTAAATTAGGGAACAGTTTTCTCTGCCCCGCCCGTGGTTCACAGGTAGATAACTGTCTCGTGCGTGTTGCGTCAACTCAGTAAGATATAGTCACCTAACTAATAAGGACTGTTCTTAACATTGGGGCCACAAAGTGTGTTGTAGAAAAGGCTCAGACACTGGTCCTGAACACGGAATCCCCAGGGGAAAGTTTGGGGCCAGGTGAGGGTGGAGTCCTTGCAGCAGTGCGGCCAACCCCACTTAACTCTTCTCATTCACCAACAGGCTGAAGAACTGAAACTGGCCACCCAGCTGACCGGACCGGTCATGCCCGTCCGGAACGTAAGTGAACACTTACTCAAATCCAGGCTTCAGACGAGATCAGTGGGTGAACACGTGGGTATCTGAGATGCGGGTGATGGGGGTCAGGCTTAAGAACGTTAATAGTGGCAGTTGTGGGTGTGGAGGTTTGCGGAAAGGAACATTTCTTCTTAGTTTTTACTTCTTGCAACCATGAAGCCATACATTGGGAAGTATTTTTGTTTGTTTTGTGTTTTTTTGTTGTTGTTGGAAAGAGAGTTTCTCTATGCTGCTTACATTGGTTTTGAATTGCTGGGTTTACAGGCTTGAGCCGCCATGTCCAGCTCAGGGAGGGTTTTTCTTTTTTTTTTTAAATCCCAGGGAAGGTGATTGACTCAGGGTTGCTTTTCAGCAGTACTTATGGCAGCGAACCTGACCCCCAATCCCCGGGAGGTCCTCCAGGTTCTCCTGACGCTTGGTTGTTCCCTTGCCCTTTGGTGCATGTGGGTTTAACAACCTGTCTTTCTCTTCTAGGTCTATAAGAAGGAGAAAGCTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGCCTTCGCTAGTCTCCGTATGGCCCGTGCCAACGCCCGGCTCTTCGGCATACGGGCAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAAGAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGCTGGGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTGGGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGCTTTCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTTCTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACGGTTTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGACTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAGCTGTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACCAGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATGCTTGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGAGGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGATCACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCTCAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACAGTGCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCTCAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGAGACCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCAGTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGCTTGTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACCCTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCCCTGCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAAAGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCAGGGTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTCCGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTAGTCCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTATGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTCTGTTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCACCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTGCTGCTGCACTCACAGCCACACTTGATACACGATGACACCTTGCTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTGGCTACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGATCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGCCGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAATACAAAAATTAGCTGAGTGGTGACACACGCCTGTAATCCCAGCTACTTGGTAGGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGCTGCACCACTGTGCTCCAGCCTGGGTGACAGCGAGACTCAGTCTCAAAAAAAGTTGTACAAGGTGGATGGTTGGAAGCTTGAGCCTAGGCTCGAATCCCTCTCACGTGAGAGGGCCTGAAGATTTCTGGTGGATTCCAACCTGGCTGAAGACTGGCCGTGGGGGGTGCAGGGGTCTCCAGCGCTCTGCCCTCCAGCCTGCTTCCTCCCTGCCCACACCGCACTAGGGGAAGGGCCTTTCCTGCTGCCTGCGGGGCCGCACCTGGAGTAGGTAATGCCATGTGGTGACGTGAATGGAGCAGAGGTCTGTGCCCCATCACACCGCCTTGCTGTTTTTACTGTGGGACAAAAGCACTCTGATCTGCGTGTTCCGGGGGCCCTCCTACCAGCCGACTTGAC
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CCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCAGACGTAAGGCCCGGCAAGCCAAGGCGCGCCGCATCGCCCCGCGCCCCGCGTCGGGTCCCATCCGGCCCATCGTGCGCTGCCCCACGGTTCGGTACCACACGAAGGTGCGCGCCGGCCGCGGCTTCAGCCTGGAGGAGCTCAGGGTGAGTACTGGCAGCGCTGCGGTGTCAGGAAGGCCCCGAAGTCCCCTCTGTTGGCCTCAGTCGCGTGATGACATTCTCCGGAATCGCTGTACGGCCTTGATGAAAGCACATTTGAACCCTTTTCCATCTGATTGCTGAGGCTTTTCATCCAGGCCTCGGGGCTGGAGAAAGCCCGGGCCTGTCTCCATCTCTCTCTGGTTCTGGGGCAGGTGGCCGGCATTCACAAGAAGGTGGCCCGGACCATCGGCATTTCTGTGGATCCGAGGAGGCGGAACAAGTCCACGGAGTCCCTGCAGGCCAACGTGCAGCGGCTGAAGGAGTACCGCTCCAAACTCATCCTCTTCCCCAGGAAGCCCTCGGCCCCCAAGAAGGGAGACAGTTCTGTGAGTACACGGCTCTCTGGCCGTCCTGGTGCGCGGGGACAGTGAGGCTTGGCTCCTTTATCAGTGACACCGGTCCCTGGGTCTTGCTGGGGTGAGAAGAACCAAAACATTGTGGGTGATGAGCTAAGCGGGACTGCTAAGGTTCACCTGTGCGTTTCCGCAGAGATAACCTTAATGGACATGGCAAGGCTGTGTGACTTGGAGGCAGCTTTTTCCATTGACGTTGCTCTCCCTAAAATGCTTCGTATTCCAAAATATTTCTAGAAAGACCTTGTAGGATAAGGTTGATAAAGAGTCCATTGTATACGTTTCCGGGTAGTTAAATTAGGGAACAGTTTTCTCTGCCCCGCCCGTGGTTCACAGGTAGATAACTGTCTCGTGCGTGTTGCGTCAACTCAGTAAGATATAGTCACCTAACTAATAAGGACTGTTCTTAACATTGGGGCCACAAAGTGTGTTGTAGAAAAGGCTCAGACACTGGTCCTGAACACGGAATCCCCAGGGGAAAGTTTGGGGCCAGGTGAGGGTGGAGTCCTTGCAGCAGTGCGGCCAACCCCACTTAACTCTTCTCATTCACCAACAGGCTGAAGAACTGAAACTGGCCACCCAGCTGACCGGACCGGTCATGCCCGTCCGGAACGTAAGTGAACACTTACTCAAATCCAGGCTTCAGACGAGATCAGTGGGTGAACACGTGGGTATCTGAGATGCGGGTGATGGGGGTCAGGCTTAAGAACGTTAATAGTGGCAGTTGTGGGTGTGGAGGTTTGCGGAAAGGAACATTTCTTCTTAGTTTTTACTTCTTGCAACCATGAAGCCATACATTGGGAAGTATTTTTGTTTGTTTTGTGTTTTTTTGTTGTTGTTGGAAAGAGAGTTTCTCTATGCTGCTTACATTGGTTTTGAATTGCTGGGTTTACAGGCTTGAGCCGCCATGTCCAGCTCAGGGAGGGTTTTTCTTTTTTTTTTTAAATCCCAGGGAAGGTGATTGACTCAGGGTTGCTTTTCAGCAGTACTTATGGCAGCGAACCTGACCCCCAATCCCCGGGAGGTCCTCCAGGTTCTCCTGACGCTTGGTTGTTCCCTTGCCCTTTGGTGCATGTGGGTTTAACAACCTGTCTTTCTCTTCTAGGTCTATAAGAAGGAGAAAGCTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGCCTTCGCTAGTCTCCGTATGCCCCGTGCCAACGCCCGGCTCTTCGGCATACGGGCAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAAGAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGCTGGGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTGGGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGCTTTCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTTCTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACGGTTTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGACTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAGCTGTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACCAGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATGCTTGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGAGGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGATCACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCTCAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACAGTGCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCTCAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGAGACCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCAGTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGCTTGTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACCCTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCCCTGCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAAAGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCAGGGTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTCCGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTAGTCCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTATGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTCTGTTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCACCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTGCTGCTGCACTCACAGCCACACTTGATACACGATGACACCTTGCTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTGGCTACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGATCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGCCGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAATACAAAAATTAGCTGAGTGGTGACACACGCCTGTAATCCCAGCTACTTGGTAGGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGCTGCACCACTGTGCTCCAGCCTGGGTGACAGCGAGACTCAGTCTCAAAAAAAGTTGTACAAGGTGGATGGTTGGAAGCTTGAGCCTAGGCTCGAATCCCTCTCACGTGAGAGGGCCTGAAGATTTCTGGTGGATTCCAACCTGGCTGAAGACTGGCCGTGGGGGGTGCAGGGGTCTCCAGCGCTCTGCCCTCCAGCCTGCTTCCTCCCTGCCCACACCGCACTAGGGGAAGGGCCTTTCCTGCTGCCTGCGGGGCCGCACCTGGAGTAGGTAATGCCATGTGGTGACGTGAATGGAGCAGAGGTCTGTGCCCCATCACACCGCCTTGCTGTTTTTACTGTGGGACAAAAGCACTCTGATCTGCGTGTTCCGGGGGCCCTCCTACCAGCCGACTTGAC
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Task1_train_23080
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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.
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Pathogenic; Inborn genetic diseases
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CAAAACCCCAACTCTGGGCTGAGCCATCATCTGGGTCCTATGGAAAGACCACCAACTCGACGGAAAAGGCCATGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGTCTCCAGGACTGCTGTGCCCTCCTGGCCCACCTGCACTGTGTGAAGGAAATGCCTGCAACAGCCAAGGCTCTGCTGTGACGTCCCTGACCCAGCAGATGAGCCTGGCCATGCAGGCTCTGCCTCTTGTGGGAGTTGCCAAGACCGAGGCCTGGCCAGGTACAGTGACAGTGAGTGGTTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGTGGGAAGATTGCTTGAGGCCAGGAGTTTGAGACCAGAGCGGCCAACATAGACACCCTGTCTCTACATAAAAATGAAAAAAATCAGCTGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTTGAGACCAGAGTGGCCAACATAGACACCCTGTCTCTACTTAAAAATGAAAAGATCAGCCGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGCGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACAGTCTCTAAAAAATATATATTTAAAAAAAAAAAAGCCCAAGTCTTATCAAGAGGTCCTTCCTGGGGCATCAGTGCAAGCTCAGGGTGCAGCCTCACCTGTGTCCCTGCCAGCATTTCCCACCCCACGCTGATCCAGCTTAACTCAACCTCCCCACCCCACGCTGATCCAGCCCTCAACCTCCCCACCCCACGCTGATCCAGCTTCCCTCAACCTCCCCACCCCGCGCTGATCCACCTTCCGTCAACTCTGAGCTGCCCCAGATCCAGACCGCAGAGCCCATTCCTGCTTCAGCCAGCGAACGCCACCCATCCAGCACCAGGGCCCAGCACTCACCCCCTTCATAGTCACAGCTGTCTGCACCTTGGAGGCCACTGCGTCTACGCGGGACGCCATCCGAAGCCAGTTCACACCTTCGTTCTTCTTGCGGATGGCGTTCTCGGCATACACACGGGCACACTCTACATTTTTCTGCAGAAGGGCCTGAAACCCGCGGGGGAAAGCAGCTGGAAGAGCTTGGTGGTGTGTGTGCCCCCTGCTAGGAGCCCAGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGACTCAACGCAAGCTCCGCCCCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGCCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGAGCTGGGATCACAGGCGTGAGCCACCGCGCCCGGCCCTAGGAGCCCAGTGTTGAGGCGGTGGGCGGGCCTCTCCCCAGAAATGTTTGAGCTAAAAATGCAAACACCCAGGCCCCAGCCCAGCCCCCCAAGCAGGCTTCTGCTTCCCCCCGCACCCCTCCAGCACTCCACTGGGCACGGGACACAGCGGGTGACACTCAGAGCCTGTGGCAGGCAGTTCTCCGAGCTCCATTCTCCCTGGGAGCCTGGCTGTGGGTGAAGAGTTACCAAAGTCCAATACGCTGGGACCTACTTCACCGATTACGCAGTTTTAAGAGCTGCACAAGATCCTACCTTCTTTTCTTTTTTTTCTTTTTTTGGAGATGGAATCTCGCTCTGTGGCCCAGGATGGAGTGCAGCAGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCAATTCTCCCGCCTCAGCCTTCCGAGTAGCTGGGATTATAGGTGTGAATCACTGCGCCCGGCCTAGATCCCTCCTCTCCTTCTGCCCTGTCCATCATGGGGAGGGGACCCCTCCTGGAGAGGCACCCCTGTAAGCCTCCAGCCCCATCCCACCCCATGGGGCAGGGGCATCATGACTCTGCCCAGACCCTGATGCCCTAGACACCAGCTCTGTAGGGAGGAGAGAGCTAAAAATGATAGGATCCGCTGGGCCCAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGACACCAGCCTGGCCAACACGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCATGCTTGTAATCCCAGCTACCCAGGAGGTTGAGGCAGGAGAATCACTCGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGACCGCACCTCTGCACTCCAGCCTGGGCAACAGCGAGACTCCATCTCAAAAAAAAAAAAGATAGGATCGTGGCAGACAGCTAGCTAGCAGCCCTCCTCCTGCAGATGGCAAAATCAAGTTCAGAATGTTGGAAATGCAAAGAAGGAAAACAATGAAGGCAATGCACTCATCTCTGTGCTCTGGACGCCCTCAGTGGGCTGGGAAGGTCTGGCAGGGGCTGTAGGGCAGGGACAGAAACCATTCTGGGCTGCACCACACACAGCACCTCCCTTCCTGAGTGCCTGTTTGTCTTATGTGGGAAGCAAATACTTTGAGGCTCAGAAATCATAGTGAGGATTAGGCTGGGCACAGTGGCTCATGCCTGCAATACCAGCACTTTTGGAGGCCAAGGCAGGTGGGTCACTTGAGGATAAGAGTTCGAGACCGGCCTGGCCAACATGGCGAAACCCCATCTCTACAAAAAAATTAAAAAATTAGCTGGGTGCAAGCCTGTAATCGCAGCTACGTGTGAGGCGAAGGCCCTAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGACGAGATCGCACCTGTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAACAAACAAACAAACAAACAAACAAACAAAATATATATATATATGTACCTCAAGGTGACGATTAAATCATGATGTAGAAAGTGCCCTGCCCCTCCCCAAAAGGCATCAAAACAAAACAGGACACAAAAATAAGGGCAGAAAAGGACAGAAGACAAACCAGGAGAGTCA
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CAAAACCCCAACTCTGGGCTGAGCCATCATCTGGGTCCTATGGAAAGACCACCAACTCGACGGAAAAGGCCATGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGTCTCCAGGACTGCTGTGCCCTCCTGGCCCACCTGCACTGTGTGAAGGAAATGCCTGCAACAGCCAAGGCTCTGCTGTGACGTCCCTGACCCAGCAGATGAGCCTGGCCATGCAGGCTCTGCCTCTTGTGGGAGTTGCCAAGACCGAGGCCTGGCCAGGTACAGTGACAGTGAGTGGTTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGTGGGAAGATTGCTTGAGGCCAGGAGTTTGAGACCAGAGCGGCCAACATAGACACCCTGTCTCTACATAAAAATGAAAAAAATCAGCTGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTTGAGACCAGAGTGGCCAACATAGACACCCTGTCTCTACTTAAAAATGAAAAGATCAGCCGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGCGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACAGTCTCTAAAAAATATATATTTAAAAAAAAAAAAGCCCAAGTCTTATCAAGAGGTCCTTCCTGGGGCATCAGTGCAAGCTCAGGGTGCAGCCTCACCTGTGTCCCTGCCAGCATTTCCCACCCCACGCTGATCCAGCTTAACTCAACCTCCCCACCCCACGCTGATCCAGCCCTCAACCTCCCCACCCCACGCTGATCCAGCTTCCCTCAACCTCCCCACCCCGCGCTGATCCACCTTCCGTCAACTCTGAGCTGCCCCAGATCCAGACCGCAGAGCCCATTCCTGCTTCAGCCAGCGAACGCCACCCATCCAGCACCAGGGCCCAGCACTCACCCCCTTCATAGTCACAGCTGTCTGCACCTTGGAGGCCACTGCGTCTACGCGGGACGCCATCCGAAGCCAGTTCACACCTTCGTTCTTCTTGCGGATGGCGTTCTCGGCATACACACGGGCACACTCTACATTTTTCTGCAGAAGAGCCTGAAACCCGCGGGGGAAAGCAGCTGGAAGAGCTTGGTGGTGTGTGTGCCCCCTGCTAGGAGCCCAGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGACTCAACGCAAGCTCCGCCCCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGCCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGAGCTGGGATCACAGGCGTGAGCCACCGCGCCCGGCCCTAGGAGCCCAGTGTTGAGGCGGTGGGCGGGCCTCTCCCCAGAAATGTTTGAGCTAAAAATGCAAACACCCAGGCCCCAGCCCAGCCCCCCAAGCAGGCTTCTGCTTCCCCCCGCACCCCTCCAGCACTCCACTGGGCACGGGACACAGCGGGTGACACTCAGAGCCTGTGGCAGGCAGTTCTCCGAGCTCCATTCTCCCTGGGAGCCTGGCTGTGGGTGAAGAGTTACCAAAGTCCAATACGCTGGGACCTACTTCACCGATTACGCAGTTTTAAGAGCTGCACAAGATCCTACCTTCTTTTCTTTTTTTTCTTTTTTTGGAGATGGAATCTCGCTCTGTGGCCCAGGATGGAGTGCAGCAGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCAATTCTCCCGCCTCAGCCTTCCGAGTAGCTGGGATTATAGGTGTGAATCACTGCGCCCGGCCTAGATCCCTCCTCTCCTTCTGCCCTGTCCATCATGGGGAGGGGACCCCTCCTGGAGAGGCACCCCTGTAAGCCTCCAGCCCCATCCCACCCCATGGGGCAGGGGCATCATGACTCTGCCCAGACCCTGATGCCCTAGACACCAGCTCTGTAGGGAGGAGAGAGCTAAAAATGATAGGATCCGCTGGGCCCAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGACACCAGCCTGGCCAACACGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCATGCTTGTAATCCCAGCTACCCAGGAGGTTGAGGCAGGAGAATCACTCGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGACCGCACCTCTGCACTCCAGCCTGGGCAACAGCGAGACTCCATCTCAAAAAAAAAAAAGATAGGATCGTGGCAGACAGCTAGCTAGCAGCCCTCCTCCTGCAGATGGCAAAATCAAGTTCAGAATGTTGGAAATGCAAAGAAGGAAAACAATGAAGGCAATGCACTCATCTCTGTGCTCTGGACGCCCTCAGTGGGCTGGGAAGGTCTGGCAGGGGCTGTAGGGCAGGGACAGAAACCATTCTGGGCTGCACCACACACAGCACCTCCCTTCCTGAGTGCCTGTTTGTCTTATGTGGGAAGCAAATACTTTGAGGCTCAGAAATCATAGTGAGGATTAGGCTGGGCACAGTGGCTCATGCCTGCAATACCAGCACTTTTGGAGGCCAAGGCAGGTGGGTCACTTGAGGATAAGAGTTCGAGACCGGCCTGGCCAACATGGCGAAACCCCATCTCTACAAAAAAATTAAAAAATTAGCTGGGTGCAAGCCTGTAATCGCAGCTACGTGTGAGGCGAAGGCCCTAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGACGAGATCGCACCTGTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAACAAACAAACAAACAAACAAACAAACAAAATATATATATATATGTACCTCAAGGTGACGATTAAATCATGATGTAGAAAGTGCCCTGCCCCTCCCCAAAAGGCATCAAAACAAAACAGGACACAAAAATAAGGGCAGAAAAGGACAGAAGACAAACCAGGAGAGTCA
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Task1_train_23081
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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?
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Pathogenic; not specified
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CAAAACCCCAACTCTGGGCTGAGCCATCATCTGGGTCCTATGGAAAGACCACCAACTCGACGGAAAAGGCCATGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGTCTCCAGGACTGCTGTGCCCTCCTGGCCCACCTGCACTGTGTGAAGGAAATGCCTGCAACAGCCAAGGCTCTGCTGTGACGTCCCTGACCCAGCAGATGAGCCTGGCCATGCAGGCTCTGCCTCTTGTGGGAGTTGCCAAGACCGAGGCCTGGCCAGGTACAGTGACAGTGAGTGGTTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGTGGGAAGATTGCTTGAGGCCAGGAGTTTGAGACCAGAGCGGCCAACATAGACACCCTGTCTCTACATAAAAATGAAAAAAATCAGCTGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTTGAGACCAGAGTGGCCAACATAGACACCCTGTCTCTACTTAAAAATGAAAAGATCAGCCGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGCGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACAGTCTCTAAAAAATATATATTTAAAAAAAAAAAAGCCCAAGTCTTATCAAGAGGTCCTTCCTGGGGCATCAGTGCAAGCTCAGGGTGCAGCCTCACCTGTGTCCCTGCCAGCATTTCCCACCCCACGCTGATCCAGCTTAACTCAACCTCCCCACCCCACGCTGATCCAGCCCTCAACCTCCCCACCCCACGCTGATCCAGCTTCCCTCAACCTCCCCACCCCGCGCTGATCCACCTTCCGTCAACTCTGAGCTGCCCCAGATCCAGACCGCAGAGCCCATTCCTGCTTCAGCCAGCGAACGCCACCCATCCAGCACCAGGGCCCAGCACTCACCCCCTTCATAGTCACAGCTGTCTGCACCTTGGAGGCCACTGCGTCTACGCGGGACGCCATCCGAAGCCAGTTCACACCTTCGTTCTTCTTGCGGATGGCGTTCTCGGCATACACACGGGCACACTCTACATTTTTCTGCAGAAGGGCCTGAAACCCGCGGGGGAAAGCAGCTGGAAGAGCTTGGTGGTGTGTGTGCCCCCTGCTAGGAGCCCAGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGACTCAACGCAAGCTCCGCCCCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGCCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGAGCTGGGATCACAGGCGTGAGCCACCGCGCCCGGCCCTAGGAGCCCAGTGTTGAGGCGGTGGGCGGGCCTCTCCCCAGAAATGTTTGAGCTAAAAATGCAAACACCCAGGCCCCAGCCCAGCCCCCCAAGCAGGCTTCTGCTTCCCCCCGCACCCCTCCAGCACTCCACTGGGCACGGGACACAGCGGGTGACACTCAGAGCCTGTGGCAGGCAGTTCTCCGAGCTCCATTCTCCCTGGGAGCCTGGCTGTGGGTGAAGAGTTACCAAAGTCCAATACGCTGGGACCTACTTCACCGATTACGCAGTTTTAAGAGCTGCACAAGATCCTACCTTCTTTTCTTTTTTTTCTTTTTTTGGAGATGGAATCTCGCTCTGTGGCCCAGGATGGAGTGCAGCAGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCAATTCTCCCGCCTCAGCCTTCCGAGTAGCTGGGATTATAGGTGTGAATCACTGCGCCCGGCCTAGATCCCTCCTCTCCTTCTGCCCTGTCCATCATGGGGAGGGGACCCCTCCTGGAGAGGCACCCCTGTAAGCCTCCAGCCCCATCCCACCCCATGGGGCAGGGGCATCATGACTCTGCCCAGACCCTGATGCCCTAGACACCAGCTCTGTAGGGAGGAGAGAGCTAAAAATGATAGGATCCGCTGGGCCCAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGACACCAGCCTGGCCAACACGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCATGCTTGTAATCCCAGCTACCCAGGAGGTTGAGGCAGGAGAATCACTCGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGACCGCACCTCTGCACTCCAGCCTGGGCAACAGCGAGACTCCATCTCAAAAAAAAAAAAGATAGGATCGTGGCAGACAGCTAGCTAGCAGCCCTCCTCCTGCAGATGGCAAAATCAAGTTCAGAATGTTGGAAATGCAAAGAAGGAAAACAATGAAGGCAATGCACTCATCTCTGTGCTCTGGACGCCCTCAGTGGGCTGGGAAGGTCTGGCAGGGGCTGTAGGGCAGGGACAGAAACCATTCTGGGCTGCACCACACACAGCACCTCCCTTCCTGAGTGCCTGTTTGTCTTATGTGGGAAGCAAATACTTTGAGGCTCAGAAATCATAGTGAGGATTAGGCTGGGCACAGTGGCTCATGCCTGCAATACCAGCACTTTTGGAGGCCAAGGCAGGTGGGTCACTTGAGGATAAGAGTTCGAGACCGGCCTGGCCAACATGGCGAAACCCCATCTCTACAAAAAAATTAAAAAATTAGCTGGGTGCAAGCCTGTAATCGCAGCTACGTGTGAGGCGAAGGCCCTAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGACGAGATCGCACCTGTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAACAAACAAACAAACAAACAAACAAACAAAATATATATATATATGTACCTCAAGGTGACGATTAAATCATGATGTAGAAAGTGCCCTGCCCCTCCCCAAAAGGCATCAAAACAAAACAGGACACAAAAATAAGGGCAGAAAAGGACAGAAGACAAACCAGGAGAGTCA
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CAAAACCCCAACTCTGGGCTGAGCCATCATCTGGGTCCTATGGAAAGACCACCAACTCGACGGAAAAGGCCATGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGTCTCCAGGACTGCTGTGCCCTCCTGGCCCACCTGCACTGTGTGAAGGAAATGCCTGCAACAGCCAAGGCTCTGCTGTGACGTCCCTGACCCAGCAGATGAGCCTGGCCATGCAGGCTCTGCCTCTTGTGGGAGTTGCCAAGACCGAGGCCTGGCCAGGTACAGTGACAGTGAGTGGTTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGTGGGAAGATTGCTTGAGGCCAGGAGTTTGAGACCAGAGCGGCCAACATAGACACCCTGTCTCTACATAAAAATGAAAAAAATCAGCTGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTTGAGACCAGAGTGGCCAACATAGACACCCTGTCTCTACTTAAAAATGAAAAGATCAGCCGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGCGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACAGTCTCTAAAAAATATATATTTAAAAAAAAAAAAGCCCAAGTCTTATCAAGAGGTCCTTCCTGGGGCATCAGTGCAAGCTCAGGGTGCAGCCTCACCTGTGTCCCTGCCAGCATTTCCCACCCCACGCTGATCCAGCTTAACTCAACCTCCCCACCCCACGCTGATCCAGCCCTCAACCTCCCCACCCCACGCTGATCCAGCTTCCCTCAACCTCCCCACCCCGCGCTGATCCACCTTCCGTCAACTCTGAGCTGCCCCAGATCCAGACCGCAGAGCCCATTCCTGCTTCAGCCAGCGAACGCCACCCATCCAGCACCAGGGCCCAGCACTCACCCCCTTCATAGTCACAGCTGTCTGCACCTTGGAGGCCACTGCGTCTACGCGGGACGCCATCCGAAGCCAGTTCACACCTTCGTTCTTCTTGCGGATGGCGTTCTCGGCATACACACGGGCACACTCTACATTTTTCTGCAGAAGAGCCTGAAACCCGCGGGGGAAAGCAGCTGGAAGAGCTTGGTGGTGTGTGTGCCCCCTGCTAGGAGCCCAGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGACTCAACGCAAGCTCCGCCCCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGCCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGAGCTGGGATCACAGGCGTGAGCCACCGCGCCCGGCCCTAGGAGCCCAGTGTTGAGGCGGTGGGCGGGCCTCTCCCCAGAAATGTTTGAGCTAAAAATGCAAACACCCAGGCCCCAGCCCAGCCCCCCAAGCAGGCTTCTGCTTCCCCCCGCACCCCTCCAGCACTCCACTGGGCACGGGACACAGCGGGTGACACTCAGAGCCTGTGGCAGGCAGTTCTCCGAGCTCCATTCTCCCTGGGAGCCTGGCTGTGGGTGAAGAGTTACCAAAGTCCAATACGCTGGGACCTACTTCACCGATTACGCAGTTTTAAGAGCTGCACAAGATCCTACCTTCTTTTCTTTTTTTTCTTTTTTTGGAGATGGAATCTCGCTCTGTGGCCCAGGATGGAGTGCAGCAGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCAATTCTCCCGCCTCAGCCTTCCGAGTAGCTGGGATTATAGGTGTGAATCACTGCGCCCGGCCTAGATCCCTCCTCTCCTTCTGCCCTGTCCATCATGGGGAGGGGACCCCTCCTGGAGAGGCACCCCTGTAAGCCTCCAGCCCCATCCCACCCCATGGGGCAGGGGCATCATGACTCTGCCCAGACCCTGATGCCCTAGACACCAGCTCTGTAGGGAGGAGAGAGCTAAAAATGATAGGATCCGCTGGGCCCAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGACACCAGCCTGGCCAACACGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCATGCTTGTAATCCCAGCTACCCAGGAGGTTGAGGCAGGAGAATCACTCGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGACCGCACCTCTGCACTCCAGCCTGGGCAACAGCGAGACTCCATCTCAAAAAAAAAAAAGATAGGATCGTGGCAGACAGCTAGCTAGCAGCCCTCCTCCTGCAGATGGCAAAATCAAGTTCAGAATGTTGGAAATGCAAAGAAGGAAAACAATGAAGGCAATGCACTCATCTCTGTGCTCTGGACGCCCTCAGTGGGCTGGGAAGGTCTGGCAGGGGCTGTAGGGCAGGGACAGAAACCATTCTGGGCTGCACCACACACAGCACCTCCCTTCCTGAGTGCCTGTTTGTCTTATGTGGGAAGCAAATACTTTGAGGCTCAGAAATCATAGTGAGGATTAGGCTGGGCACAGTGGCTCATGCCTGCAATACCAGCACTTTTGGAGGCCAAGGCAGGTGGGTCACTTGAGGATAAGAGTTCGAGACCGGCCTGGCCAACATGGCGAAACCCCATCTCTACAAAAAAATTAAAAAATTAGCTGGGTGCAAGCCTGTAATCGCAGCTACGTGTGAGGCGAAGGCCCTAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGACGAGATCGCACCTGTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAACAAACAAACAAACAAACAAACAAACAAAATATATATATATATGTACCTCAAGGTGACGATTAAATCATGATGTAGAAAGTGCCCTGCCCCTCCCCAAAAGGCATCAAAACAAAACAGGACACAAAAATAAGGGCAGAAAAGGACAGAAGACAAACCAGGAGAGTCA
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Task1_train_23082
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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?
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Pathogenic; Fanconi anemia
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GGCAACAGAGCAAGACTCAAGTCTCAAAAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAAGTCTGTCTTGTGAAGCGTTTCAGGGCTTGACAGATGTGGAGGCAGCACAGGGTGAGTGGGTCTGCATGTCCACATGTGGCATTTGTGGACTAGCAAGTGAGATCTCTTTGTTCAAGGGTGTGAGAAAGATTTCCAGAGCCAGTACAGCAATGCATACCCCCAGACCCTGGGTATGGACCCCTCTCATATGGAGATGAATTCTAGAGAACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAA
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GGCAACAGAGCAAGACTCAAGTCTCAAAAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAAGTCTGTCTTGTGAAGCGTTTCAGGGCTTGACAGATGTGGAGGCAGCACAGGGTGAGTGGGTCTGCATGTCCACATGTGGCATTTGTGGACTAGCAAGTGAGATCTCTTTGTTCAAGGGTGTGAGAAAGATTTCCAGAGCCAGTACAGCAATGCATACCCCCAGACCCTGGGTATGGACCCCTCTCATATGGAGATGAATTCTAGAGAACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTACAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAA
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Task1_train_23083
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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?
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Pathogenic; Fanconi anemia complementation group A
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AAGTCTCAAAAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAAGTCTGTCTTGTGAAGCGTTTCAGGGCTTGACAGATGTGGAGGCAGCACAGGGTGAGTGGGTCTGCATGTCCACATGTGGCATTTGTGGACTAGCAAGTGAGATCTCTTTGTTCAAGGGTGTGAGAAAGATTTCCAGAGCCAGTACAGCAATGCATACCCCCAGACCCTGGGTATGGACCCCTCTCATATGGAGATGAATTCTAGAGAACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTT
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AAGTCTCAAAAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAAGTCTGTCTTGTGAAGCGTTTCAGGGCTTGACAGATGTGGAGGCAGCACAGGGTGAGTGGGTCTGCATGTCCACATGTGGCATTTGTGGACTAGCAAGTGAGATCTCTTTGTTCAAGGGTGTGAGAAAGATTTCCAGAGCCAGTACAGCAATGCATACCCCCAGACCCTGGGTATGGACCCCTCTCATATGGAGATGAATTCTAGAGAACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGGTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTT
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Task1_train_23084
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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?
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Pathogenic; Fanconi anemia complementation group A
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ACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCT
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ACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTAGATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCT
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Task1_train_23085
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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?
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Pathogenic; Fanconi anemia complementation group A
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TGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACT
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TGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGGAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACT
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Task1_train_23086
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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?
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Pathogenic; Fanconi anemia complementation group A
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GAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACTCCTCGCTGCACACTAGGGTCCTAAGGCCCTGGAGCCACTAAAATCCCTTCTAACAAAACTACACAAGAAACCTGAAGACGTACTCAGAAGAACCCCTGCAGGGTGGTTATAATCACCAAAACCCTGGGCGCTGCTGTCGATCCAGCTTTGAGCTGGTGTAAGTTGTGTGCTGACATGGCACCTATGCGTTGCGGATCTCGGGCTGGGCACAGAGGGCTGCTGCCTCCAGCTCTCTTGTGGGATGCTTG
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GAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCCGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACTCCTCGCTGCACACTAGGGTCCTAAGGCCCTGGAGCCACTAAAATCCCTTCTAACAAAACTACACAAGAAACCTGAAGACGTACTCAGAAGAACCCCTGCAGGGTGGTTATAATCACCAAAACCCTGGGCGCTGCTGTCGATCCAGCTTTGAGCTGGTGTAAGTTGTGTGCTGACATGGCACCTATGCGTTGCGGATCTCGGGCTGGGCACAGAGGGCTGCTGCCTCCAGCTCTCTTGTGGGATGCTTG
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Task1_train_23087
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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.
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Pathogenic; Fanconi anemia complementation group A
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GCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACTCCTCGCTGCACACTAGGGTCCTAAGGCCCTGGAGCCACTAAAATCCCTTCTAACAAAACTACACAAGAAACCTGAAGACGTACTCAGAAGAACCCCTGCAGGGTGGTTATAATCACCAAAACCCTGGGCGCTGCTGTCGATCCAGCTTTGAGCTGGTGTAAGTTGTGTGCTGACATGGCACCTATGCGTTGCGGATCTCGGGCTGGGCACAGAGGGCTGCTGCCTCCAGCTCTCTTGTGGGATGCTTGTTTCTGTTCCTGTTCTGCACACACCACCCTTGGCTC
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GCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATGCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACTCCTCGCTGCACACTAGGGTCCTAAGGCCCTGGAGCCACTAAAATCCCTTCTAACAAAACTACACAAGAAACCTGAAGACGTACTCAGAAGAACCCCTGCAGGGTGGTTATAATCACCAAAACCCTGGGCGCTGCTGTCGATCCAGCTTTGAGCTGGTGTAAGTTGTGTGCTGACATGGCACCTATGCGTTGCGGATCTCGGGCTGGGCACAGAGGGCTGCTGCCTCCAGCTCTCTTGTGGGATGCTTGTTTCTGTTCCTGTTCTGCACACACCACCCTTGGCTC
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Task1_train_23088
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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?
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Pathogenic; Fanconi anemia complementation group A
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TTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACTCCTCGCTGCACACTAGGGTCCTAAGGCCCTGGAGCCACTAAAATCCCTTCTAACAAAACTACACAAGAAACCTGAAGACGTACTCAGAAGAACCCCTGCAGGGTGGTTATAATCACCAAAACCCTGGGCGCTGCTGTCGATCCAGCTTTGAGCTGGTGTAAGTTGTGTGCTGACATGGCACCTATGCGTTGCGGATCTCGGGCTGGGCACAGAGGGCTGCTGCCTCCAGCTCTCTTGTGGGATGCTTGTTTCTGTTCCTGTTCTGCACACACCACCCTTGGCTCCCTGCACAGAGAGCTGTGTGGGTGTCACTGGTCTTGTGGGGGCAGTCAGGCTTTCCAGGGTGCAGCAACCAGGTGGGCAGTGGGTCTGAGTCGAACATGGTCCCTGGCCTGGAATTCAAGAGCAGCCTCTCCCACTCCTTTCCCTATGCCTATGGCTGCAGACGGTCCCATCCTTGCTGCCTCTTGTCCCCAGCACCCCAGGTCTGAGCTGTCTCACTGCAAGCTTATCTGGGGCTGTCCCTCAGCACATGAATCAAGGCTACTGCAGCATGAACACAGAAGGCACCACTTGAAGGCTGACAGCATTTACGCTGGGCTGTGATGAGGATAAAAATAAGCTGAAGAAACGCACTTCAAGCCTGGGCAACACAGTGAGACCCCCATCTCTTTTAATTTTTACTTTAAACAAATTTTTTTTTTTTGAGACAAGTCTCGCTCTGTCACCCAGACTGCAGGGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCCCCTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTTTACAGGCTATGGGATTGTAGGTGCGCACCACCACACCCGACTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGACACCAAGTGATCCGCCTGCCTCGGCCTCCCTAAGTGTTGGGATTACAGGCATGAGCCACCATGCCTGGACTACAGACCCCCATCTCAGAAAAAATTACAAAATTAGCCGGGCATGGTGGCACACACCTGTAGTCTGAGCTACTCCAGAGGCTGAGGTAAGAGGATGGCTTGAGCCCAGAAGAGGCTGCAGTGAGCTGACTGCACCACTGCACTCCAGCCTGGGCGACAGTGAGACCCTGTCTCAACTACATACAACCATTTAAAAAACTGAAATTATTATTTTTACTAGTAAACTTGATAGTCAAAGTCTTACTCCAAGCCAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACGGGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAAAAGTCTTGCTCCAAGCCACATATTTGTCTTTAGAAAAACAGTTCATCAGACAAGCCCAGAGAAATAGCACTGATTGAAACCAAGCTTGCGAGAAAATAAATCAGTAAAAGAATTTCCTATCTTGCCTCCTCTCTCTCGCAGTCCAGCTTCTTTAGCTGCTTCCTGATGTTTTCTTCCCTGACTTGTTGAATCGCAAAGTGCAGTGCAGCAGCTGAGAGC
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TTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAACAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACTCCTCGCTGCACACTAGGGTCCTAAGGCCCTGGAGCCACTAAAATCCCTTCTAACAAAACTACACAAGAAACCTGAAGACGTACTCAGAAGAACCCCTGCAGGGTGGTTATAATCACCAAAACCCTGGGCGCTGCTGTCGATCCAGCTTTGAGCTGGTGTAAGTTGTGTGCTGACATGGCACCTATGCGTTGCGGATCTCGGGCTGGGCACAGAGGGCTGCTGCCTCCAGCTCTCTTGTGGGATGCTTGTTTCTGTTCCTGTTCTGCACACACCACCCTTGGCTCCCTGCACAGAGAGCTGTGTGGGTGTCACTGGTCTTGTGGGGGCAGTCAGGCTTTCCAGGGTGCAGCAACCAGGTGGGCAGTGGGTCTGAGTCGAACATGGTCCCTGGCCTGGAATTCAAGAGCAGCCTCTCCCACTCCTTTCCCTATGCCTATGGCTGCAGACGGTCCCATCCTTGCTGCCTCTTGTCCCCAGCACCCCAGGTCTGAGCTGTCTCACTGCAAGCTTATCTGGGGCTGTCCCTCAGCACATGAATCAAGGCTACTGCAGCATGAACACAGAAGGCACCACTTGAAGGCTGACAGCATTTACGCTGGGCTGTGATGAGGATAAAAATAAGCTGAAGAAACGCACTTCAAGCCTGGGCAACACAGTGAGACCCCCATCTCTTTTAATTTTTACTTTAAACAAATTTTTTTTTTTTGAGACAAGTCTCGCTCTGTCACCCAGACTGCAGGGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCCCCTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTTTACAGGCTATGGGATTGTAGGTGCGCACCACCACACCCGACTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGACACCAAGTGATCCGCCTGCCTCGGCCTCCCTAAGTGTTGGGATTACAGGCATGAGCCACCATGCCTGGACTACAGACCCCCATCTCAGAAAAAATTACAAAATTAGCCGGGCATGGTGGCACACACCTGTAGTCTGAGCTACTCCAGAGGCTGAGGTAAGAGGATGGCTTGAGCCCAGAAGAGGCTGCAGTGAGCTGACTGCACCACTGCACTCCAGCCTGGGCGACAGTGAGACCCTGTCTCAACTACATACAACCATTTAAAAAACTGAAATTATTATTTTTACTAGTAAACTTGATAGTCAAAGTCTTACTCCAAGCCAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACGGGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAAAAGTCTTGCTCCAAGCCACATATTTGTCTTTAGAAAAACAGTTCATCAGACAAGCCCAGAGAAATAGCACTGATTGAAACCAAGCTTGCGAGAAAATAAATCAGTAAAAGAATTTCCTATCTTGCCTCCTCTCTCTCGCAGTCCAGCTTCTTTAGCTGCTTCCTGATGTTTTCTTCCCTGACTTGTTGAATCGCAAAGTGCAGTGCAGCAGCTGAGAGC
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Task1_train_23089
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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?
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Pathogenic; Fanconi anemia complementation group A
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AGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACTCCTCGCTGCACACTAGGGTCCTAAGGCCCTGGAGCCACTAAAATCCCTTCTAACAAAACTACACAAGAAACCTGAAGACGTACTCAGAAGAACCCCTGCAGGGTGGTTATAATCACCAAAACCCTGGGCGCTGCTGTCGATCCAGCTTTGAGCTGGTGTAAGTTGTGTGCTGACATGGCACCTATGCGTTGCGGATCTCGGGCTGGGCACAGAGGGCTGCTGCCTCCAGCTCTCTTGTGGGATGCTTGTTTCTGTTCCTGTTCTGCACACACCACCCTTGGCTCCCTGCACAGAGAGCTGTGTGGGTGTCACTGGTCTTGTGGGGGCAGTCAGGCTTTCCAGGGTGCAGCAACCAGGTGGGCAGTGGGTCTGAGTCGAACATGGTCCCTGGCCTGGAATTCAAGAGCAGCCTCTCCCACTCCTTTCCCTATGCCTATGGCTGCAGACGGTCCCATCCTTGCTGCCTCTTGTCCCCAGCACCCCAGGTCTGAGCTGTCTCACTGCAAGCTTATCTGGGGCTGTCCCTCAGCACATGAATCAAGGCTACTGCAGCATGAACACAGAAGGCACCACTTGAAGGCTGACAGCATTTACGCTGGGCTGTGATGAGGATAAAAATAAGCTGAAGAAACGCACTTCAAGCCTGGGCAACACAGTGAGACCCCCATCTCTTTTAATTTTTACTTTAAACAAATTTTTTTTTTTTGAGACAAGTCTCGCTCTGTCACCCAGACTGCAGGGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCCCCTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTTTACAGGCTATGGGATTGTAGGTGCGCACCACCACACCCGACTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGACACCAAGTGATCCGCCTGCCTCGGCCTCCCTAAGTGTTGGGATTACAGGCATGAGCCACCATGCCTGGACTACAGACCCCCATCTCAGAAAAAATTACAAAATTAGCCGGGCATGGTGGCACACACCTGTAGTCTGAGCTACTCCAGAGGCTGAGGTAAGAGGATGGCTTGAGCCCAGAAGAGGCTGCAGTGAGCTGACTGCACCACTGCACTCCAGCCTGGGCGACAGTGAGACCCTGTCTCAACTACATACAACCATTTAAAAAACTGAAATTATTATTTTTACTAGTAAACTTGATAGTCAAAGTCTTACTCCAAGCCAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACGGGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAAAAGTCTTGCTCCAAGCCACATATTTGTCTTTAGAAAAACAGTTCATCAGACAAGCCCAGAGAAATAGCACTGATTGAAACCAAGCTTGCGAGAAAATAAATCAGTAAAAGAATTTCCTATCTTGCCTCCTCTCTCTCGCAGTCCAGCTTCTTTAGCTGCTTCCTGATGTTTTCTTCCCTGACTTGTTGAATCGCAAAGTGCAGTGCAGCAGCTGAGAGCCAGTCCGGGTTGGGTGCTGGGGAGGCAGCCTCAGGGGAGAGGAAACTGGGACAGAGAGAACGGGGTCATTGCAGGGCCTTACAACCATACAACCACGCCATAGAAACCAAGTCCTTATTCCCACCTGTCACCTTTGGGGCCTGCCTTTCCATCAGAGGACAGAGAAGGGTTTCAGGACCATCAGAAACTAGGTCTGCATCCCCCAGGTCCACGTGAGAGTGTGGGCAGGTGCTGGTGCTGCCCCCACAGCATCCTGGCGTTCTGAGAGCTGCTGACTGAGCAGGCAGCTGGCCTGGTCCTGTCTACCTTGCCCTGTGCTCTTGGGCCCCAGCTGCCTACATTTTGGAAGAAGAGGCCTCATTTTCCTCAGTTGCCCATGCCTGGCCCTGTGGATCAGGCATTCCCTCCTACAACAGAGAACAAAGGACTGCCTGGCTCTGGCCCCAGTGTGGTGTCTGAGTTTTCTGGCTGGTTAAAAAATTGGTAGGAAATTAATGAAACAATGCTGTGGTTTAAGAGACTTTAAATAAGCTGGGCATGACGGTTCACATCTGCAATCATAGCACTTCAGGAGGATCGCTTAAGCCCAGCAGTTTGAGATCTGCCTGGGCAACACAGTGAGACTCAATCTCAAATAAACAAAAACGAGGCAGGGCGTGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACGTGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGGATCGCTTGAACCTGGGAGGCGGAGGTCATGGTGAGCCGAGATCGTGCCATCTCACTCTAGGGTGGGTGACAAGAGTGAAACTCTGTCTCAAACAAAACAAAACAAAAAACAAAACTTCAGACAATCTGATCTGTGTTTGTAGAATTAGAACTGGAGGTGTGACCTGCTTTCTCCTTTTTTGAGATGGAGTTTCTCTCTCATTGCCCATGCTGGACTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACACTATCACACCCAGCTCATTTCTGTATTTTCAGTAGAGATTGTTTCACATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCGCGCCGGGGCCCTCTTCTCTTCTTTCAGCAGACGGCGAGCAGCCAAACCCTGAGGGGACCCGGTGTGGCATCAGTGATTCAAAACTAGTCACAAAGTAAGGTGTTCTCCAAGGAGGCAGGATGGGTACTAGCAGTGCCCTCTGACGACCCCTTAAGAACACGGCACCCACATTCAGCAGGTGGAGTGGCTGTCAGCTCTGTGGTCCTCAGAAGGGTGTGTGAGCCTGGATTGCGCCAGGAGCTTGATGGTTTGCAAGGACCCGTGAATATCTGACTGGGGTCGACAGGTCAGGGTAGGCTGAGAATCTGCATCCCTGAGGTCCCCATGACACTGACCCTACCAGCACGCGGTGCACTCTAGGAGCCCACATTAGATTTAAGAGGAAGGGGAGCAGGTGCAAAGGAATCACTCGAGCTCCTCACTCAGACGGGAGCCTGGGAGAGGCCGTTCCTCACTCAGACGAGACACTGGCAGAGGCTGTTTTTTTTTTTGTTTTTTTTCTGGACAGAGTCTTGCTCTATTGGCCGTTGGAGTGATCTCGGCTCACTGGAAACTCCACCTCCTGGGTTCAACTGATTCTCCTGCCTCGGCCTCCCCAGTAGTTGGGATTACAGGCGCCCACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTC
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AGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACTCCTCGCTGCACACTAGGGTCCTAAGGCCCTGGAGCCACTAAAATCCCTTCTAACAAAACTACACAAGAAACCTGAAGACGTACTCAGAAGAACCCCTGCAGGGTGGTTATAATCACCAAAACCCTGGGCGCTGCTGTCGATCCAGCTTTGAGCTGGTGTAAGTTGTGTGCTGACATGGCACCTATGCGTTGCGGATCTCGGGCTGGGCACAGAGGGCTGCTGCCTCCAGCTCTCTTGTGGGATGCTTGTTTCTGTTCCTGTTCTGCACACACCACCCTTGGCTCCCTGCACAGAGAGCTGTGTGGGTGTCACTGGTCTTGTGGGGGCAGTCAGGCTTTCCAGGGTGCAGCAACCAGGTGGGCAGTGGGTCTGAGTCGAACATGGTCCCTGGCCTGGAATTCAAGAGCAGCCTCTCCCACTCCTTTCCCTATGCCTATGGCTGCAGACGGTCCCATCCTTGCTGCCTCTTGTCCCCAGCACCCCAGGTCTGAGCTGTCTCACTGCAAGCTTATCTGGGGCTGTCCCTCAGCACATGAATCAAGGCTACTGCAGCATGAACACAGAAGGCACCACTTGAAGGCTGACAGCATTTACGCTGGGCTGTGATGAGGATAAAAATAAGCTGAAGAAACGCACTTCAAGCCTGGGCAACACAGTGAGACCCCCATCTCTTTTAATTTTTACTTTAAACAAATTTTTTTTTTTTGAGACAAGTCTCGCTCTGTCACCCAGACTGCAGGGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCCCCTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTTTACAGGCTATGGGATTGTAGGTGCGCACCACCACACCCGACTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGACACCAAGTGATCCGCCTGCCTCGGCCTCCCTAAGTGTTGGGATTACAGGCATGAGCCACCATGCCTGGACTACAGACCCCCATCTCAGAAAAAATTACAAAATTAGCCGGGCATGGTGGCACACACCTGTAGTCTGAGCTACTCCAGAGGCTGAGGTAAGAGGATGGCTTGAGCCCAGAAGAGGCTGCAGTGAGCTGACTGCACCACTGCACTCCAGCCTGGGCGACAGTGAGACCCTGTCTCAACTACATACAACCATTTAAAAAACTGAAATTATTATTTTTACTAGTAAACTTGATAGTCAAAGTCTTACTCCAAGCCAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACGGGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAAAAGTCTTGCTCCAAGCCACATATTTGTCTTTAGAAAAACAGTTCATCAGACAAGCCCAGAGAAATAGCACTGATTGAAACCAAGCTTGCGAGAAAATAAATCAGTAAAAGAATTTCCTATCTTGCCTCCTCTCTCTCGCAGTCCGGCTTCTTTAGCTGCTTCCTGATGTTTTCTTCCCTGACTTGTTGAATCGCAAAGTGCAGTGCAGCAGCTGAGAGCCAGTCCGGGTTGGGTGCTGGGGAGGCAGCCTCAGGGGAGAGGAAACTGGGACAGAGAGAACGGGGTCATTGCAGGGCCTTACAACCATACAACCACGCCATAGAAACCAAGTCCTTATTCCCACCTGTCACCTTTGGGGCCTGCCTTTCCATCAGAGGACAGAGAAGGGTTTCAGGACCATCAGAAACTAGGTCTGCATCCCCCAGGTCCACGTGAGAGTGTGGGCAGGTGCTGGTGCTGCCCCCACAGCATCCTGGCGTTCTGAGAGCTGCTGACTGAGCAGGCAGCTGGCCTGGTCCTGTCTACCTTGCCCTGTGCTCTTGGGCCCCAGCTGCCTACATTTTGGAAGAAGAGGCCTCATTTTCCTCAGTTGCCCATGCCTGGCCCTGTGGATCAGGCATTCCCTCCTACAACAGAGAACAAAGGACTGCCTGGCTCTGGCCCCAGTGTGGTGTCTGAGTTTTCTGGCTGGTTAAAAAATTGGTAGGAAATTAATGAAACAATGCTGTGGTTTAAGAGACTTTAAATAAGCTGGGCATGACGGTTCACATCTGCAATCATAGCACTTCAGGAGGATCGCTTAAGCCCAGCAGTTTGAGATCTGCCTGGGCAACACAGTGAGACTCAATCTCAAATAAACAAAAACGAGGCAGGGCGTGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACGTGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGGATCGCTTGAACCTGGGAGGCGGAGGTCATGGTGAGCCGAGATCGTGCCATCTCACTCTAGGGTGGGTGACAAGAGTGAAACTCTGTCTCAAACAAAACAAAACAAAAAACAAAACTTCAGACAATCTGATCTGTGTTTGTAGAATTAGAACTGGAGGTGTGACCTGCTTTCTCCTTTTTTGAGATGGAGTTTCTCTCTCATTGCCCATGCTGGACTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACACTATCACACCCAGCTCATTTCTGTATTTTCAGTAGAGATTGTTTCACATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCGCGCCGGGGCCCTCTTCTCTTCTTTCAGCAGACGGCGAGCAGCCAAACCCTGAGGGGACCCGGTGTGGCATCAGTGATTCAAAACTAGTCACAAAGTAAGGTGTTCTCCAAGGAGGCAGGATGGGTACTAGCAGTGCCCTCTGACGACCCCTTAAGAACACGGCACCCACATTCAGCAGGTGGAGTGGCTGTCAGCTCTGTGGTCCTCAGAAGGGTGTGTGAGCCTGGATTGCGCCAGGAGCTTGATGGTTTGCAAGGACCCGTGAATATCTGACTGGGGTCGACAGGTCAGGGTAGGCTGAGAATCTGCATCCCTGAGGTCCCCATGACACTGACCCTACCAGCACGCGGTGCACTCTAGGAGCCCACATTAGATTTAAGAGGAAGGGGAGCAGGTGCAAAGGAATCACTCGAGCTCCTCACTCAGACGGGAGCCTGGGAGAGGCCGTTCCTCACTCAGACGAGACACTGGCAGAGGCTGTTTTTTTTTTTGTTTTTTTTCTGGACAGAGTCTTGCTCTATTGGCCGTTGGAGTGATCTCGGCTCACTGGAAACTCCACCTCCTGGGTTCAACTGATTCTCCTGCCTCGGCCTCCCCAGTAGTTGGGATTACAGGCGCCCACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTC
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Task1_train_23090
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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?
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Pathogenic; Fanconi anemia complementation group A
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AGGGGAGAGGAAACTGGGACAGAGAGAACGGGGTCATTGCAGGGCCTTACAACCATACAACCACGCCATAGAAACCAAGTCCTTATTCCCACCTGTCACCTTTGGGGCCTGCCTTTCCATCAGAGGACAGAGAAGGGTTTCAGGACCATCAGAAACTAGGTCTGCATCCCCCAGGTCCACGTGAGAGTGTGGGCAGGTGCTGGTGCTGCCCCCACAGCATCCTGGCGTTCTGAGAGCTGCTGACTGAGCAGGCAGCTGGCCTGGTCCTGTCTACCTTGCCCTGTGCTCTTGGGCCCCAGCTGCCTACATTTTGGAAGAAGAGGCCTCATTTTCCTCAGTTGCCCATGCCTGGCCCTGTGGATCAGGCATTCCCTCCTACAACAGAGAACAAAGGACTGCCTGGCTCTGGCCCCAGTGTGGTGTCTGAGTTTTCTGGCTGGTTAAAAAATTGGTAGGAAATTAATGAAACAATGCTGTGGTTTAAGAGACTTTAAATAAGCTGGGCATGACGGTTCACATCTGCAATCATAGCACTTCAGGAGGATCGCTTAAGCCCAGCAGTTTGAGATCTGCCTGGGCAACACAGTGAGACTCAATCTCAAATAAACAAAAACGAGGCAGGGCGTGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACGTGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGGATCGCTTGAACCTGGGAGGCGGAGGTCATGGTGAGCCGAGATCGTGCCATCTCACTCTAGGGTGGGTGACAAGAGTGAAACTCTGTCTCAAACAAAACAAAACAAAAAACAAAACTTCAGACAATCTGATCTGTGTTTGTAGAATTAGAACTGGAGGTGTGACCTGCTTTCTCCTTTTTTGAGATGGAGTTTCTCTCTCATTGCCCATGCTGGACTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACACTATCACACCCAGCTCATTTCTGTATTTTCAGTAGAGATTGTTTCACATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCGCGCCGGGGCCCTCTTCTCTTCTTTCAGCAGACGGCGAGCAGCCAAACCCTGAGGGGACCCGGTGTGGCATCAGTGATTCAAAACTAGTCACAAAGTAAGGTGTTCTCCAAGGAGGCAGGATGGGTACTAGCAGTGCCCTCTGACGACCCCTTAAGAACACGGCACCCACATTCAGCAGGTGGAGTGGCTGTCAGCTCTGTGGTCCTCAGAAGGGTGTGTGAGCCTGGATTGCGCCAGGAGCTTGATGGTTTGCAAGGACCCGTGAATATCTGACTGGGGTCGACAGGTCAGGGTAGGCTGAGAATCTGCATCCCTGAGGTCCCCATGACACTGACCCTACCAGCACGCGGTGCACTCTAGGAGCCCACATTAGATTTAAGAGGAAGGGGAGCAGGTGCAAAGGAATCACTCGAGCTCCTCACTCAGACGGGAGCCTGGGAGAGGCCGTTCCTCACTCAGACGAGACACTGGCAGAGGCTGTTTTTTTTTTTGTTTTTTTTCTGGACAGAGTCTTGCTCTATTGGCCGTTGGAGTGATCTCGGCTCACTGGAAACTCCACCTCCTGGGTTCAACTGATTCTCCTGCCTCGGCCTCCCCAGTAGTTGGGATTACAGGCGCCCACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGGACACACCTCCGCTGCCCCAGCCATGACAAGCCCCCAGTGCTCCTACAGGCCACTACAGGCCCACACTCGCCCTGCGCTCTGGAACTCCAAAGCCAGTATTTTTTACGTCAATTAAGGCTCAAAGCAGTTCCATGAGGCATTTATTACCCACACTCATGGAAGACGTGGAATTTGGAGAAGGAAGAGCCTGGCCTAACGCAACAGTGAAGGGACCACACTCCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACAGTCCCCTGAGCTGGGAATGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGAGACCACACTGCCCTGAGCTGGGAATGCCTGGTCCTTGGATGCCCTCAGCTGAGAGGTGGCGTTCTAAACACCGAAGAGTTCATTTCTCACGAATTCCACCAACTGAGCTACAACTCGGTGCAAATGCAGCCTGCTTGGGGAGCTCCCTGGGGAACATGCCGTGCTGCGGAGAAAAAGGCCCTCCTGTCCCTGATGACCGAGAAGGAAGGGCGACAGCTGTGGTCTTCAGGACTAAGTGAGCCGCCAGGGAAGTGAGGGAAATGCTGCCCTCCTCCCACTCTCGGGACCCTGGGCTGCTAGGGGAGCCTGCTGAGCTCTGGCGGGAGCTGAGGTGAAGTCTCTGCTCCGAAGTCCCAAGAAAGCATAGTCAGGCGCAAGTGGGCCACAGTCATGCTCTCGTGACGGGGCACAGGCAGCCACCGTACAGCCTCCAGCCAGTGCACAACCCAAGACCGTGAACAAACAAGCCCTGCACCCCTGTGGACATGAAGGTGCCCGTGGGGTCTGAGTGGGGTCCACAGGGGAGAAGTCCTGCGGGTGCCATGGTGACGGCGGTGGGGGCAGGGACGGTTCTGGGAACTCAGGATGTGCGGCCCTCATCTGCTATGAGCTGGCATCTTTAACTGTGGCTTCCATGTCTCCTGATGCATTTTCCCTGAGATGGTAACACCCGTGATGGAGACGTGCTGCAGAGATGCCAGAGGCAGCTGTGGAGTCTCCCACTCATCCCCAAAACAAAACACCAAACAAGACAGCTGACCCACCAGAGCAGAGGTCAAAATTAAGGGGCATTTCGTCTGGCACTTGGCCAGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGT
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AGGGGAGAGGAAACTGGGACAGAGAGAACGGGGTCATTGCAGGGCCTTACAACCATACAACCACGCCATAGAAACCAAGTCCTTATTCCCACCTGTCACCTTTGGGGCCTGCCTTTCCATCAGAGGACAGAGAAGGGTTTCAGGACCATCAGAAACTAGGTCTGCATCCCCCAGGTCCACGTGAGAGTGTGGGCAGGTGCTGGTGCTGCCCCCACAGCATCCTGGCGTTCTGAGAGCTGCTGACTGAGCAGGCAGCTGGCCTGGTCCTGTCTACCTTGCCCTGTGCTCTTGGGCCCCAGCTGCCTACATTTTGGAAGAAGAGGCCTCATTTTCCTCAGTTGCCCATGCCTGGCCCTGTGGATCAGGCATTCCCTCCTACAACAGAGAACAAAGGACTGCCTGGCTCTGGCCCCAGTGTGGTGTCTGAGTTTTCTGGCTGGTTAAAAAATTGGTAGGAAATTAATGAAACAATGCTGTGGTTTAAGAGACTTTAAATAAGCTGGGCATGACGGTTCACATCTGCAATCATAGCACTTCAGGAGGATCGCTTAAGCCCAGCAGTTTGAGATCTGCCTGGGCAACACAGTGAGACTCAATCTCAAATAAACAAAAACGAGGCAGGGCGTGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACGTGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGGATCGCTTGAACCTGGGAGGCGGAGGTCATGGTGAGCCGAGATCGTGCCATCTCACTCTAGGGTGGGTGACAAGAGTGAAACTCTGTCTCAAACAAAACAAAACAAAAAACAAAACTTCAGACAATCTGATCTGTGTTTGTAGAATTAGAACTGGAGGTGTGACCTGCTTTCTCCTTTTTTGAGATGGAGTTTCTCTCTCATTGCCCATGCTGGACTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACACTATCACACCCAGCTCATTTCTGTATTTTCAGTAGAGATTGTTTCACATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCGCGCCGGGGCCCTCTTCTCTTCTTTCAGCAGACGGCGAGCAGCCAAACCCTGAGGGGACCCGGTGTGGCATCAGTGATTCAAAACTAGTCACAAAGTAAGGTGTTCTCCAAGGAGGCAGGATGGGTACTAGCAGTGCCCTCTGACGACCCCTTAAGAACACGGCACCCACATTCAGCAGGTGGAGTGGCTGTCAGCTCTGTGGTCCTCAGAAGGGTGTGTGAGCCTGGATTGCGCCAGGAGCTTGATGGTTTGCAAGGACCCGTGAATATCTGACTGGGGTCGACAGGTCAGGGTAGGCTGAGAATCTGCATCCCTGAGGTCCCCATGACACTGACCCTACCAGCACGCGGTGCACTCTAGGAGCCCACATTAGATTTAAGAGGAAGGGGAGCAGGTGCAAAGGAATCACTCGAGCTCCTCACTCAGACGGGAGCCTGGGAGAGGCCGTTCCTCACTCAGACGAGACACTGGCAGAGGCTGTTTTTTTTTTTGTTTTTTTTCTGGACAGAGTCTTGCTCTATTGGCCGTTGGAGTGATCTCGGCTCACTGGAAACTCCACCTCCTGGGTTCAACTGATTCTCCTGCCTCGGCCTCCCCAGTAGTTGGGATTACAGGCGCCCACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCGGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGGACACACCTCCGCTGCCCCAGCCATGACAAGCCCCCAGTGCTCCTACAGGCCACTACAGGCCCACACTCGCCCTGCGCTCTGGAACTCCAAAGCCAGTATTTTTTACGTCAATTAAGGCTCAAAGCAGTTCCATGAGGCATTTATTACCCACACTCATGGAAGACGTGGAATTTGGAGAAGGAAGAGCCTGGCCTAACGCAACAGTGAAGGGACCACACTCCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACAGTCCCCTGAGCTGGGAATGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGAGACCACACTGCCCTGAGCTGGGAATGCCTGGTCCTTGGATGCCCTCAGCTGAGAGGTGGCGTTCTAAACACCGAAGAGTTCATTTCTCACGAATTCCACCAACTGAGCTACAACTCGGTGCAAATGCAGCCTGCTTGGGGAGCTCCCTGGGGAACATGCCGTGCTGCGGAGAAAAAGGCCCTCCTGTCCCTGATGACCGAGAAGGAAGGGCGACAGCTGTGGTCTTCAGGACTAAGTGAGCCGCCAGGGAAGTGAGGGAAATGCTGCCCTCCTCCCACTCTCGGGACCCTGGGCTGCTAGGGGAGCCTGCTGAGCTCTGGCGGGAGCTGAGGTGAAGTCTCTGCTCCGAAGTCCCAAGAAAGCATAGTCAGGCGCAAGTGGGCCACAGTCATGCTCTCGTGACGGGGCACAGGCAGCCACCGTACAGCCTCCAGCCAGTGCACAACCCAAGACCGTGAACAAACAAGCCCTGCACCCCTGTGGACATGAAGGTGCCCGTGGGGTCTGAGTGGGGTCCACAGGGGAGAAGTCCTGCGGGTGCCATGGTGACGGCGGTGGGGGCAGGGACGGTTCTGGGAACTCAGGATGTGCGGCCCTCATCTGCTATGAGCTGGCATCTTTAACTGTGGCTTCCATGTCTCCTGATGCATTTTCCCTGAGATGGTAACACCCGTGATGGAGACGTGCTGCAGAGATGCCAGAGGCAGCTGTGGAGTCTCCCACTCATCCCCAAAACAAAACACCAAACAAGACAGCTGACCCACCAGAGCAGAGGTCAAAATTAAGGGGCATTTCGTCTGGCACTTGGCCAGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGT
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Task1_train_23091
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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.
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Pathogenic; Fanconi anemia complementation group A
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CACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGGACACACCTCCGCTGCCCCAGCCATGACAAGCCCCCAGTGCTCCTACAGGCCACTACAGGCCCACACTCGCCCTGCGCTCTGGAACTCCAAAGCCAGTATTTTTTACGTCAATTAAGGCTCAAAGCAGTTCCATGAGGCATTTATTACCCACACTCATGGAAGACGTGGAATTTGGAGAAGGAAGAGCCTGGCCTAACGCAACAGTGAAGGGACCACACTCCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACAGTCCCCTGAGCTGGGAATGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGAGACCACACTGCCCTGAGCTGGGAATGCCTGGTCCTTGGATGCCCTCAGCTGAGAGGTGGCGTTCTAAACACCGAAGAGTTCATTTCTCACGAATTCCACCAACTGAGCTACAACTCGGTGCAAATGCAGCCTGCTTGGGGAGCTCCCTGGGGAACATGCCGTGCTGCGGAGAAAAAGGCCCTCCTGTCCCTGATGACCGAGAAGGAAGGGCGACAGCTGTGGTCTTCAGGACTAAGTGAGCCGCCAGGGAAGTGAGGGAAATGCTGCCCTCCTCCCACTCTCGGGACCCTGGGCTGCTAGGGGAGCCTGCTGAGCTCTGGCGGGAGCTGAGGTGAAGTCTCTGCTCCGAAGTCCCAAGAAAGCATAGTCAGGCGCAAGTGGGCCACAGTCATGCTCTCGTGACGGGGCACAGGCAGCCACCGTACAGCCTCCAGCCAGTGCACAACCCAAGACCGTGAACAAACAAGCCCTGCACCCCTGTGGACATGAAGGTGCCCGTGGGGTCTGAGTGGGGTCCACAGGGGAGAAGTCCTGCGGGTGCCATGGTGACGGCGGTGGGGGCAGGGACGGTTCTGGGAACTCAGGATGTGCGGCCCTCATCTGCTATGAGCTGGCATCTTTAACTGTGGCTTCCATGTCTCCTGATGCATTTTCCCTGAGATGGTAACACCCGTGATGGAGACGTGCTGCAGAGATGCCAGAGGCAGCTGTGGAGTCTCCCACTCATCCCCAAAACAAAACACCAAACAAGACAGCTGACCCACCAGAGCAGAGGTCAAAATTAAGGGGCATTTCGTCTGGCACTTGGCCAGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGTGCTCCTGGGCTGACCGGGCCTGGCGCCCTGGCTGTGCTGTCCTGAAACTTAACGGCTTCCCTGGGCGGCCAGATCCTGCAGCCCACCAGCTCTGGCCCAAACAGTCTTGTAGGCTCCAGGAAGAAGCCAGGGAGGCACAAGCAGCCGCAGGGAAGGGGACGCACCCGGAGCGTAGAACTGTGGTGAGGACGACACTAATACCAAGGGCCAACCATCCTCTGGTCCCTTCACTAACCAAGTGCTGTCTATGGTGTTTTCCTGTCTGTCGGCTGTCACGTGCCAACTGAGAGCTTTCTGAAAAACAGCCATTCATAAGAATTCAAAGGAGACCATAGTGATTTTCTGAAAGCTTTTGCTAGTCTCACGTCCTCTGCTTTCCTTGTCACATTTTGAAGTGCTGCACAAGGCCGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGACTGACCAACATGGTAAAACGTCATCTCTACTAAAAATACAAAACTTAGCCGGTCATGGCGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGGGTGAGCCAAGATTTCACTGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGT
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CACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGGACACACCTCCGCTGCCCCAGCCATGACAAGCCCCCAGTGCTCCTACAGGCCACTACAGGCCCACACTCGCCCTGCGCTCTGGAACTCCAAAGCCAGTATTTTTTACGTCAATTAAGGCTCAAAGCAGTTCCATGAGGCATTTATTACCCACACTCATGGAAGACGTGGAATTTGGAGAAGGAAGAGCCTGGCCTAACGCAACAGTGAAGGGACCACACTCCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACAGTCCCCTGAGCTGGGAATGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGAGACCACACTGCCCTGAGCTGGGAATGCCTGGTCCTTGGATGCCCTCAGCTGAGAGGTGGCGTTCTAAACACCGAAGAGTTCATTTCTCACGAATTCCACCAACTGAGCTACAACTCGGTGCAAATGCAGCCTGCTTGGGGAGCTCCCTGGGGAACATGCCGTGCTGCGGAGAAAAAGGCCCTCCTGTCCCTGATGACCGAGAAGGAAGGGCGACAGCTGTGGTCTTCAGGACTAAGTGAGCCGCCAGGGAAGTGAGGGAAATGCTGCCCTCCTCCCACTCTCGGGACCCTGGGCTGCTAGGGGAGCCTGCTGAGCTCTGGCGGGAGCTGAGGTGAAGTCTCTGCTCCGAAGTCCCAAGAAAGCATAGTCAGGCGCAAGTGGGCCACAGTCATGCTCTCGTGACGGGGCACAGGCAGCCACCGTACAGCCTCCAGCCAGTGCACAACCCAAGACCGTGAACAAACAAGCCCTGCACCCCTGTGGACATGAAGGTGCCCGTGGGGTCTGAGTGGGGTCCACAGGGGAGAAGTCCTGCGGGTGCCATGGTGACGGCGGTGGGGGCAGGGACGGTTCTGGGAACTCAGGATGTGCGGCCCTCATCTGCTATGAGCTGGCATCTTTAACTGTGGCTTCCATGTCTCCTGATGCATTTTCCCTGAGATGGTAACACCCGTGATGGAGACGTGCTGCAGAGATGCCAGAGGCAGCTGTGGAGTCTCCCACTCATCCCCAAAACAAAACACCAAACAAGACAGCTGACCCACCAGAGCAGAGGTCAAAATTAAGGGGCATTTCGTCTGGCACTTGGCCAGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGACCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGTGCTCCTGGGCTGACCGGGCCTGGCGCCCTGGCTGTGCTGTCCTGAAACTTAACGGCTTCCCTGGGCGGCCAGATCCTGCAGCCCACCAGCTCTGGCCCAAACAGTCTTGTAGGCTCCAGGAAGAAGCCAGGGAGGCACAAGCAGCCGCAGGGAAGGGGACGCACCCGGAGCGTAGAACTGTGGTGAGGACGACACTAATACCAAGGGCCAACCATCCTCTGGTCCCTTCACTAACCAAGTGCTGTCTATGGTGTTTTCCTGTCTGTCGGCTGTCACGTGCCAACTGAGAGCTTTCTGAAAAACAGCCATTCATAAGAATTCAAAGGAGACCATAGTGATTTTCTGAAAGCTTTTGCTAGTCTCACGTCCTCTGCTTTCCTTGTCACATTTTGAAGTGCTGCACAAGGCCGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGACTGACCAACATGGTAAAACGTCATCTCTACTAAAAATACAAAACTTAGCCGGTCATGGCGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGGGTGAGCCAAGATTTCACTGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGT
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Task1_train_23092
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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.
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Pathogenic; Fanconi anemia complementation group A
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ACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGGACACACCTCCGCTGCCCCAGCCATGACAAGCCCCCAGTGCTCCTACAGGCCACTACAGGCCCACACTCGCCCTGCGCTCTGGAACTCCAAAGCCAGTATTTTTTACGTCAATTAAGGCTCAAAGCAGTTCCATGAGGCATTTATTACCCACACTCATGGAAGACGTGGAATTTGGAGAAGGAAGAGCCTGGCCTAACGCAACAGTGAAGGGACCACACTCCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACAGTCCCCTGAGCTGGGAATGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGAGACCACACTGCCCTGAGCTGGGAATGCCTGGTCCTTGGATGCCCTCAGCTGAGAGGTGGCGTTCTAAACACCGAAGAGTTCATTTCTCACGAATTCCACCAACTGAGCTACAACTCGGTGCAAATGCAGCCTGCTTGGGGAGCTCCCTGGGGAACATGCCGTGCTGCGGAGAAAAAGGCCCTCCTGTCCCTGATGACCGAGAAGGAAGGGCGACAGCTGTGGTCTTCAGGACTAAGTGAGCCGCCAGGGAAGTGAGGGAAATGCTGCCCTCCTCCCACTCTCGGGACCCTGGGCTGCTAGGGGAGCCTGCTGAGCTCTGGCGGGAGCTGAGGTGAAGTCTCTGCTCCGAAGTCCCAAGAAAGCATAGTCAGGCGCAAGTGGGCCACAGTCATGCTCTCGTGACGGGGCACAGGCAGCCACCGTACAGCCTCCAGCCAGTGCACAACCCAAGACCGTGAACAAACAAGCCCTGCACCCCTGTGGACATGAAGGTGCCCGTGGGGTCTGAGTGGGGTCCACAGGGGAGAAGTCCTGCGGGTGCCATGGTGACGGCGGTGGGGGCAGGGACGGTTCTGGGAACTCAGGATGTGCGGCCCTCATCTGCTATGAGCTGGCATCTTTAACTGTGGCTTCCATGTCTCCTGATGCATTTTCCCTGAGATGGTAACACCCGTGATGGAGACGTGCTGCAGAGATGCCAGAGGCAGCTGTGGAGTCTCCCACTCATCCCCAAAACAAAACACCAAACAAGACAGCTGACCCACCAGAGCAGAGGTCAAAATTAAGGGGCATTTCGTCTGGCACTTGGCCAGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGTGCTCCTGGGCTGACCGGGCCTGGCGCCCTGGCTGTGCTGTCCTGAAACTTAACGGCTTCCCTGGGCGGCCAGATCCTGCAGCCCACCAGCTCTGGCCCAAACAGTCTTGTAGGCTCCAGGAAGAAGCCAGGGAGGCACAAGCAGCCGCAGGGAAGGGGACGCACCCGGAGCGTAGAACTGTGGTGAGGACGACACTAATACCAAGGGCCAACCATCCTCTGGTCCCTTCACTAACCAAGTGCTGTCTATGGTGTTTTCCTGTCTGTCGGCTGTCACGTGCCAACTGAGAGCTTTCTGAAAAACAGCCATTCATAAGAATTCAAAGGAGACCATAGTGATTTTCTGAAAGCTTTTGCTAGTCTCACGTCCTCTGCTTTCCTTGTCACATTTTGAAGTGCTGCACAAGGCCGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGACTGACCAACATGGTAAAACGTCATCTCTACTAAAAATACAAAACTTAGCCGGTCATGGCGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGGGTGAGCCAAGATTTCACTGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCC
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ACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGGACACACCTCCGCTGCCCCAGCCATGACAAGCCCCCAGTGCTCCTACAGGCCACTACAGGCCCACACTCGCCCTGCGCTCTGGAACTCCAAAGCCAGTATTTTTTACGTCAATTAAGGCTCAAAGCAGTTCCATGAGGCATTTATTACCCACACTCATGGAAGACGTGGAATTTGGAGAAGGAAGAGCCTGGCCTAACGCAACAGTGAAGGGACCACACTCCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACAGTCCCCTGAGCTGGGAATGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGAGACCACACTGCCCTGAGCTGGGAATGCCTGGTCCTTGGATGCCCTCAGCTGAGAGGTGGCGTTCTAAACACCGAAGAGTTCATTTCTCACGAATTCCACCAACTGAGCTACAACTCGGTGCAAATGCAGCCTGCTTGGGGAGCTCCCTGGGGAACATGCCGTGCTGCGGAGAAAAAGGCCCTCCTGTCCCTGATGACCGAGAAGGAAGGGCGACAGCTGTGGTCTTCAGGACTAAGTGAGCCGCCAGGGAAGTGAGGGAAATGCTGCCCTCCTCCCACTCTCGGGACCCTGGGCTGCTAGGGGAGCCTGCTGAGCTCTGGCGGGAGCTGAGGTGAAGTCTCTGCTCCGAAGTCCCAAGAAAGCATAGTCAGGCGCAAGTGGGCCACAGTCATGCTCTCGTGACGGGGCACAGGCAGCCACCGTACAGCCTCCAGCCAGTGCACAACCCAAGACCGTGAACAAACAAGCCCTGCACCCCTGTGGACATGAAGGTGCCCGTGGGGTCTGAGTGGGGTCCACAGGGGAGAAGTCCTGCGGGTGCCATGGTGACGGCGGTGGGGGCAGGGACGGTTCTGGGAACTCAGGATGTGCGGCCCTCATCTGCTATGAGCTGGCATCTTTAACTGTGGCTTCCATGTCTCCTGATGCATTTTCCCTGAGATGGTAACACCCGTGATGGAGACGTGCTGCAGAGATGCCAGAGGCAGCTGTGGAGTCTCCCACTCATCCCCAAAACAAAACACCAAACAAGACAGCTGACCCACCAGAGCAGAGGTCAAAATTAAGGGGCATTTCGTCTGGCACTTGGCCAGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTGTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGTGCTCCTGGGCTGACCGGGCCTGGCGCCCTGGCTGTGCTGTCCTGAAACTTAACGGCTTCCCTGGGCGGCCAGATCCTGCAGCCCACCAGCTCTGGCCCAAACAGTCTTGTAGGCTCCAGGAAGAAGCCAGGGAGGCACAAGCAGCCGCAGGGAAGGGGACGCACCCGGAGCGTAGAACTGTGGTGAGGACGACACTAATACCAAGGGCCAACCATCCTCTGGTCCCTTCACTAACCAAGTGCTGTCTATGGTGTTTTCCTGTCTGTCGGCTGTCACGTGCCAACTGAGAGCTTTCTGAAAAACAGCCATTCATAAGAATTCAAAGGAGACCATAGTGATTTTCTGAAAGCTTTTGCTAGTCTCACGTCCTCTGCTTTCCTTGTCACATTTTGAAGTGCTGCACAAGGCCGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGACTGACCAACATGGTAAAACGTCATCTCTACTAAAAATACAAAACTTAGCCGGTCATGGCGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGGGTGAGCCAAGATTTCACTGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCC
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Task1_train_23093
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Consider this mutation in FANCA (FA complementation group A) on Chromosome 16. Is this a benign change or a disease-causing variant?
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Pathogenic; Fanconi anemia complementation group A
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AGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGTGCTCCTGGGCTGACCGGGCCTGGCGCCCTGGCTGTGCTGTCCTGAAACTTAACGGCTTCCCTGGGCGGCCAGATCCTGCAGCCCACCAGCTCTGGCCCAAACAGTCTTGTAGGCTCCAGGAAGAAGCCAGGGAGGCACAAGCAGCCGCAGGGAAGGGGACGCACCCGGAGCGTAGAACTGTGGTGAGGACGACACTAATACCAAGGGCCAACCATCCTCTGGTCCCTTCACTAACCAAGTGCTGTCTATGGTGTTTTCCTGTCTGTCGGCTGTCACGTGCCAACTGAGAGCTTTCTGAAAAACAGCCATTCATAAGAATTCAAAGGAGACCATAGTGATTTTCTGAAAGCTTTTGCTAGTCTCACGTCCTCTGCTTTCCTTGTCACATTTTGAAGTGCTGCACAAGGCCGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGACTGACCAACATGGTAAAACGTCATCTCTACTAAAAATACAAAACTTAGCCGGTCATGGCGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGGGTGAGCCAAGATTTCACTGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCCGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGA
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AGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGTGCTCCTGGGCTGACCGGGCCTGGCGCCCTGGCTGTGCTGTCCTGAAACTTAACGGCTTCCCTGGGCGGCCAGATCCTGCAGCCCACCAGCTCTGGCCCAAACAGTCTTGTAGGCTCCAGGAAGAAGCCAGGGAGGCACAAGCAGCCGCAGGGAAGGGGACGCACCCGGAGCGTAGAACTGTGGTGAGGACGACACTAATACCAAGGGCCAACCATCCTCTGGTCCCTTCACTAACCAAGTGCTGTCTATGGTGTTTTCCTGTCTGTCGGCTGTCACGTGCCAACTGAGAGCTTTCTGAAAAACAGCCATTCATAAGAATTCAAAGGAGACCATAGTGATTTTCTGAAAGCTTTTGCTAGTCTCACGTCCTCTGCTTTCCTTGTCACATTTTGAAGTGCTGCACAAGGCCGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGACTGACCAACATGGTAAAACGTCATCTCTACTAAAAATACAAAACTTAGCCGGTCATGGCGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGGGTGAGCCAAGATTTCACTGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGGGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCCGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGA
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Task1_train_23094
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Gene FANCA (FA complementation group A), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Fanconi anemia
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GTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGTGCTCCTGGGCTGACCGGGCCTGGCGCCCTGGCTGTGCTGTCCTGAAACTTAACGGCTTCCCTGGGCGGCCAGATCCTGCAGCCCACCAGCTCTGGCCCAAACAGTCTTGTAGGCTCCAGGAAGAAGCCAGGGAGGCACAAGCAGCCGCAGGGAAGGGGACGCACCCGGAGCGTAGAACTGTGGTGAGGACGACACTAATACCAAGGGCCAACCATCCTCTGGTCCCTTCACTAACCAAGTGCTGTCTATGGTGTTTTCCTGTCTGTCGGCTGTCACGTGCCAACTGAGAGCTTTCTGAAAAACAGCCATTCATAAGAATTCAAAGGAGACCATAGTGATTTTCTGAAAGCTTTTGCTAGTCTCACGTCCTCTGCTTTCCTTGTCACATTTTGAAGTGCTGCACAAGGCCGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGACTGACCAACATGGTAAAACGTCATCTCTACTAAAAATACAAAACTTAGCCGGTCATGGCGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGGGTGAGCCAAGATTTCACTGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCCGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAG
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GTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGTGCTCCTGGGCTGACCGGGCCTGGCGCCCTGGCTGTGCTGTCCTGAAACTTAACGGCTTCCCTGGGCGGCCAGATCCTGCAGCCCACCAGCTCTGGCCCAAACAGTCTTGTAGGCTCCAGGAAGAAGCCAGGGAGGCACAAGCAGCCGCAGGGAAGGGGACGCACCCGGAGCGTAGAACTGTGGTGAGGACGACACTAATACCAAGGGCCAACCATCCTCTGGTCCCTTCACTAACCAAGTGCTGTCTATGGTGTTTTCCTGTCTGTCGGCTGTCACGTGCCAACTGAGAGCTTTCTGAAAAACAGCCATTCATAAGAATTCAAAGGAGACCATAGTGATTTTCTGAAAGCTTTTGCTAGTCTCACGTCCTCTGCTTTCCTTGTCACATTTTGAAGTGCTGCACAAGGCCGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGACTGACCAACATGGTAAAACGTCATCTCTACTAAAAATACAAAACTTAGCCGGTCATGGCGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGGGTGAGCCAAGATTTCACTGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAACCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCCGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAG
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Task1_train_23095
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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.
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Pathogenic; Fanconi anemia complementation group A
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CAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCCGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAGACAAAACAAAACAAAACAACAACAAAAAAAAACAGCAGGAGGACACTCATGTGCCCTTCACCCAGATTAACCTCTGGCTAACATTTTACCCCACACATCATTTTTGCCTCACAAGTCTTTTGTTGTTGTTGTTGTTGTTAGGACAGTCTCAGTCCGGTTGCCCAGGCTGGAGTGCGGCAGTGCAGTCTTGGCTTATGGCAGCCTTGACTCTCGAGCTCAGCTGATTCTCCTAAGTCAGCTTCCTGAGTAGCTGGGACTATAGGTACACACCACCATGCTTGACTAGTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAACTGGTCTTGAGCCCCTGACCTCAAGTGATCTAGCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCTGGCCGGCTGTATTTTTTAAAGAAGAATAAAGATCAGGTGCAGTGGCTCACGCCTGTAATCCAACAATTTTGGAGACCGAGATGGGTGGTTCACTTGGGCCCAGGAGTTCGAGACAAGCCTGGGCAACATGGCAAAACTCCGTCTCTACAAAAAATCAGCTGGGTGTGGTGGCGCACACAGGTGCACGCTGTCAGGATTGCTTGAGCCCAGGAAGTCAAGGCTGCAGAGAGATATGATCGCACCACTGTACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCCCAATAATAATAATAATTATGATTACAATTAAGAGGAAAAAGCAGATGGTCTCACTGAGAAGGAGCCAGGTGGGTCTAGGGAAAGCATCTGGCTAAGGAGTTGGGAGGCCCCAGAGCTGGCGGAGGGAGAGACAGGGGCCTGGCACAGAAGACGCACGGGTGGCCAGCACCAGTAAATGCCTGTTGACTGACAGTGAACCCACACAGGTACATGCTGCCTACCTGTATAGACTTCAGGTGATCCACCAGCCTCGGACTCCCAAAGTACTGGGATTACAAGCCTGAGCCAACAATAAATATCTTTTTTT
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CAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACAGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCCGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAGACAAAACAAAACAAAACAACAACAAAAAAAAACAGCAGGAGGACACTCATGTGCCCTTCACCCAGATTAACCTCTGGCTAACATTTTACCCCACACATCATTTTTGCCTCACAAGTCTTTTGTTGTTGTTGTTGTTGTTAGGACAGTCTCAGTCCGGTTGCCCAGGCTGGAGTGCGGCAGTGCAGTCTTGGCTTATGGCAGCCTTGACTCTCGAGCTCAGCTGATTCTCCTAAGTCAGCTTCCTGAGTAGCTGGGACTATAGGTACACACCACCATGCTTGACTAGTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAACTGGTCTTGAGCCCCTGACCTCAAGTGATCTAGCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCTGGCCGGCTGTATTTTTTAAAGAAGAATAAAGATCAGGTGCAGTGGCTCACGCCTGTAATCCAACAATTTTGGAGACCGAGATGGGTGGTTCACTTGGGCCCAGGAGTTCGAGACAAGCCTGGGCAACATGGCAAAACTCCGTCTCTACAAAAAATCAGCTGGGTGTGGTGGCGCACACAGGTGCACGCTGTCAGGATTGCTTGAGCCCAGGAAGTCAAGGCTGCAGAGAGATATGATCGCACCACTGTACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCCCAATAATAATAATAATTATGATTACAATTAAGAGGAAAAAGCAGATGGTCTCACTGAGAAGGAGCCAGGTGGGTCTAGGGAAAGCATCTGGCTAAGGAGTTGGGAGGCCCCAGAGCTGGCGGAGGGAGAGACAGGGGCCTGGCACAGAAGACGCACGGGTGGCCAGCACCAGTAAATGCCTGTTGACTGACAGTGAACCCACACAGGTACATGCTGCCTACCTGTATAGACTTCAGGTGATCCACCAGCCTCGGACTCCCAAAGTACTGGGATTACAAGCCTGAGCCAACAATAAATATCTTTTTTT
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Task1_train_23096
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This variant affects gene FANCA (FA complementation group A) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
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Pathogenic; Fanconi anemia
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GGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCCGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAGACAAAACAAAACAAAACAACAACAAAAAAAAACAGCAGGAGGACACTCATGTGCCCTTCACCCAGATTAACCTCTGGCTAACATTTTACCCCACACATCATTTTTGCCTCACAAGTCTTTTGTTGTTGTTGTTGTTGTTAGGACAGTCTCAGTCCGGTTGCCCAGGCTGGAGTGCGGCAGTGCAGTCTTGGCTTATGGCAGCCTTGACTCTCGAGCTCAGCTGATTCTCCTAAGTCAGCTTCCTGAGTAGCTGGGACTATAGGTACACACCACCATGCTTGACTAGTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAACTGGTCTTGAGCCCCTGACCTCAAGTGATCTAGCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCTGGCCGGCTGTATTTTTTAAAGAAGAATAAAGATCAGGTGCAGTGGCTCACGCCTGTAATCCAACAATTTTGGAGACCGAGATGGGTGGTTCACTTGGGCCCAGGAGTTCGAGACAAGCCTGGGCAACATGGCAAAACTCCGTCTCTACAAAAAATCAGCTGGGTGTGGTGGCGCACACAGGTGCACGCTGTCAGGATTGCTTGAGCCCAGGAAGTCAAGGCTGCAGAGAGATATGATCGCACCACTGTACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCCCAATAATAATAATAATTATGATTACAATTAAGAGGAAAAAGCAGATGGTCTCACTGAGAAGGAGCCAGGTGGGTCTAGGGAAAGCATCTGGCTAAGGAGTTGGGAGGCCCCAGAGCTGGCGGAGGGAGAGACAGGGGCCTGGCACAGAAGACGCACGGGTGGCCAGCACCAGTAAATGCCTGTTGACTGACAGTGAACCCACACAGGTACATGCTGCCTACCTGTATAGACTTCAGGTGATCCACCAGCCTCGGACTCCCAAAGTACTGGGATTACAAGCCTGAGCCAACAATAAATATCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAG
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GGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCTGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAGACAAAACAAAACAAAACAACAACAAAAAAAAACAGCAGGAGGACACTCATGTGCCCTTCACCCAGATTAACCTCTGGCTAACATTTTACCCCACACATCATTTTTGCCTCACAAGTCTTTTGTTGTTGTTGTTGTTGTTAGGACAGTCTCAGTCCGGTTGCCCAGGCTGGAGTGCGGCAGTGCAGTCTTGGCTTATGGCAGCCTTGACTCTCGAGCTCAGCTGATTCTCCTAAGTCAGCTTCCTGAGTAGCTGGGACTATAGGTACACACCACCATGCTTGACTAGTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAACTGGTCTTGAGCCCCTGACCTCAAGTGATCTAGCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCTGGCCGGCTGTATTTTTTAAAGAAGAATAAAGATCAGGTGCAGTGGCTCACGCCTGTAATCCAACAATTTTGGAGACCGAGATGGGTGGTTCACTTGGGCCCAGGAGTTCGAGACAAGCCTGGGCAACATGGCAAAACTCCGTCTCTACAAAAAATCAGCTGGGTGTGGTGGCGCACACAGGTGCACGCTGTCAGGATTGCTTGAGCCCAGGAAGTCAAGGCTGCAGAGAGATATGATCGCACCACTGTACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCCCAATAATAATAATAATTATGATTACAATTAAGAGGAAAAAGCAGATGGTCTCACTGAGAAGGAGCCAGGTGGGTCTAGGGAAAGCATCTGGCTAAGGAGTTGGGAGGCCCCAGAGCTGGCGGAGGGAGAGACAGGGGCCTGGCACAGAAGACGCACGGGTGGCCAGCACCAGTAAATGCCTGTTGACTGACAGTGAACCCACACAGGTACATGCTGCCTACCTGTATAGACTTCAGGTGATCCACCAGCCTCGGACTCCCAAAGTACTGGGATTACAAGCCTGAGCCAACAATAAATATCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAG
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Task1_train_23097
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This variant impacts the gene FANCA (FA complementation group A) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Fanconi anemia complementation group A
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GGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCCGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAGACAAAACAAAACAAAACAACAACAAAAAAAAACAGCAGGAGGACACTCATGTGCCCTTCACCCAGATTAACCTCTGGCTAACATTTTACCCCACACATCATTTTTGCCTCACAAGTCTTTTGTTGTTGTTGTTGTTGTTAGGACAGTCTCAGTCCGGTTGCCCAGGCTGGAGTGCGGCAGTGCAGTCTTGGCTTATGGCAGCCTTGACTCTCGAGCTCAGCTGATTCTCCTAAGTCAGCTTCCTGAGTAGCTGGGACTATAGGTACACACCACCATGCTTGACTAGTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAACTGGTCTTGAGCCCCTGACCTCAAGTGATCTAGCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCTGGCCGGCTGTATTTTTTAAAGAAGAATAAAGATCAGGTGCAGTGGCTCACGCCTGTAATCCAACAATTTTGGAGACCGAGATGGGTGGTTCACTTGGGCCCAGGAGTTCGAGACAAGCCTGGGCAACATGGCAAAACTCCGTCTCTACAAAAAATCAGCTGGGTGTGGTGGCGCACACAGGTGCACGCTGTCAGGATTGCTTGAGCCCAGGAAGTCAAGGCTGCAGAGAGATATGATCGCACCACTGTACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCCCAATAATAATAATAATTATGATTACAATTAAGAGGAAAAAGCAGATGGTCTCACTGAGAAGGAGCCAGGTGGGTCTAGGGAAAGCATCTGGCTAAGGAGTTGGGAGGCCCCAGAGCTGGCGGAGGGAGAGACAGGGGCCTGGCACAGAAGACGCACGGGTGGCCAGCACCAGTAAATGCCTGTTGACTGACAGTGAACCCACACAGGTACATGCTGCCTACCTGTATAGACTTCAGGTGATCCACCAGCCTCGGACTCCCAAAGTACTGGGATTACAAGCCTGAGCCAACAATAAATATCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAG
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GGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCTGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAGACAAAACAAAACAAAACAACAACAAAAAAAAACAGCAGGAGGACACTCATGTGCCCTTCACCCAGATTAACCTCTGGCTAACATTTTACCCCACACATCATTTTTGCCTCACAAGTCTTTTGTTGTTGTTGTTGTTGTTAGGACAGTCTCAGTCCGGTTGCCCAGGCTGGAGTGCGGCAGTGCAGTCTTGGCTTATGGCAGCCTTGACTCTCGAGCTCAGCTGATTCTCCTAAGTCAGCTTCCTGAGTAGCTGGGACTATAGGTACACACCACCATGCTTGACTAGTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAACTGGTCTTGAGCCCCTGACCTCAAGTGATCTAGCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCTGGCCGGCTGTATTTTTTAAAGAAGAATAAAGATCAGGTGCAGTGGCTCACGCCTGTAATCCAACAATTTTGGAGACCGAGATGGGTGGTTCACTTGGGCCCAGGAGTTCGAGACAAGCCTGGGCAACATGGCAAAACTCCGTCTCTACAAAAAATCAGCTGGGTGTGGTGGCGCACACAGGTGCACGCTGTCAGGATTGCTTGAGCCCAGGAAGTCAAGGCTGCAGAGAGATATGATCGCACCACTGTACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCCCAATAATAATAATAATTATGATTACAATTAAGAGGAAAAAGCAGATGGTCTCACTGAGAAGGAGCCAGGTGGGTCTAGGGAAAGCATCTGGCTAAGGAGTTGGGAGGCCCCAGAGCTGGCGGAGGGAGAGACAGGGGCCTGGCACAGAAGACGCACGGGTGGCCAGCACCAGTAAATGCCTGTTGACTGACAGTGAACCCACACAGGTACATGCTGCCTACCTGTATAGACTTCAGGTGATCCACCAGCCTCGGACTCCCAAAGTACTGGGATTACAAGCCTGAGCCAACAATAAATATCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAG
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Task1_train_23098
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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?
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Pathogenic; FANCA-related disorder
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GGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCCGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAGACAAAACAAAACAAAACAACAACAAAAAAAAACAGCAGGAGGACACTCATGTGCCCTTCACCCAGATTAACCTCTGGCTAACATTTTACCCCACACATCATTTTTGCCTCACAAGTCTTTTGTTGTTGTTGTTGTTGTTAGGACAGTCTCAGTCCGGTTGCCCAGGCTGGAGTGCGGCAGTGCAGTCTTGGCTTATGGCAGCCTTGACTCTCGAGCTCAGCTGATTCTCCTAAGTCAGCTTCCTGAGTAGCTGGGACTATAGGTACACACCACCATGCTTGACTAGTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAACTGGTCTTGAGCCCCTGACCTCAAGTGATCTAGCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCTGGCCGGCTGTATTTTTTAAAGAAGAATAAAGATCAGGTGCAGTGGCTCACGCCTGTAATCCAACAATTTTGGAGACCGAGATGGGTGGTTCACTTGGGCCCAGGAGTTCGAGACAAGCCTGGGCAACATGGCAAAACTCCGTCTCTACAAAAAATCAGCTGGGTGTGGTGGCGCACACAGGTGCACGCTGTCAGGATTGCTTGAGCCCAGGAAGTCAAGGCTGCAGAGAGATATGATCGCACCACTGTACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCCCAATAATAATAATAATTATGATTACAATTAAGAGGAAAAAGCAGATGGTCTCACTGAGAAGGAGCCAGGTGGGTCTAGGGAAAGCATCTGGCTAAGGAGTTGGGAGGCCCCAGAGCTGGCGGAGGGAGAGACAGGGGCCTGGCACAGAAGACGCACGGGTGGCCAGCACCAGTAAATGCCTGTTGACTGACAGTGAACCCACACAGGTACATGCTGCCTACCTGTATAGACTTCAGGTGATCCACCAGCCTCGGACTCCCAAAGTACTGGGATTACAAGCCTGAGCCAACAATAAATATCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAG
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GGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCTGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAGACAAAACAAAACAAAACAACAACAAAAAAAAACAGCAGGAGGACACTCATGTGCCCTTCACCCAGATTAACCTCTGGCTAACATTTTACCCCACACATCATTTTTGCCTCACAAGTCTTTTGTTGTTGTTGTTGTTGTTAGGACAGTCTCAGTCCGGTTGCCCAGGCTGGAGTGCGGCAGTGCAGTCTTGGCTTATGGCAGCCTTGACTCTCGAGCTCAGCTGATTCTCCTAAGTCAGCTTCCTGAGTAGCTGGGACTATAGGTACACACCACCATGCTTGACTAGTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAACTGGTCTTGAGCCCCTGACCTCAAGTGATCTAGCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCTGGCCGGCTGTATTTTTTAAAGAAGAATAAAGATCAGGTGCAGTGGCTCACGCCTGTAATCCAACAATTTTGGAGACCGAGATGGGTGGTTCACTTGGGCCCAGGAGTTCGAGACAAGCCTGGGCAACATGGCAAAACTCCGTCTCTACAAAAAATCAGCTGGGTGTGGTGGCGCACACAGGTGCACGCTGTCAGGATTGCTTGAGCCCAGGAAGTCAAGGCTGCAGAGAGATATGATCGCACCACTGTACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCCCAATAATAATAATAATTATGATTACAATTAAGAGGAAAAAGCAGATGGTCTCACTGAGAAGGAGCCAGGTGGGTCTAGGGAAAGCATCTGGCTAAGGAGTTGGGAGGCCCCAGAGCTGGCGGAGGGAGAGACAGGGGCCTGGCACAGAAGACGCACGGGTGGCCAGCACCAGTAAATGCCTGTTGACTGACAGTGAACCCACACAGGTACATGCTGCCTACCTGTATAGACTTCAGGTGATCCACCAGCCTCGGACTCCCAAAGTACTGGGATTACAAGCCTGAGCCAACAATAAATATCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAG
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Task1_train_23099
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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.
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Pathogenic; Fanconi anemia complementation group A
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ACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGGCTTGGCACGACCTGAACCATCAGCACGTGTTTTGCCGCAGGCAGCAGCGAGTTTTCTTTTTGTGGCCCCTATGTTTTCCTTTTCCTATTACTTCCATTGGTTTCATCCAGAATCTGATACCAGGATCCAGGTGCAGGCGACAGTGCTGCATGTGCCTGGAAGGCCCCTGATGGCCGGAAGGACGAGGAGCACAGGGTGGCTGTTGCCAACCCTCTCCTGAGTCTAGGTGTGGCAGGCACCCTGAGGCCCATATACCCACCAGGATACTCCATATCTGCAGTGACCACATTCCCCTCTCCCTGACCTCCACCCTAAACTCCACACCCTTAAACCCAACGGTCCTCTGGGCTCCCTACTCCTATGCCCAGAACAGCACATCTGGCCTCTCAAATAGTCTCAAATGGTCTCAGTCATCAGCCCTGGGACTCATGGGGGTTCACTGCTTCATTTACCCACTTCTTGGTGCCCCCAAGTCAAGGCTGGCATCACTCCTCAAAGTCTGCACCACCTGCTCCACACCAGCCTCTGCTCCTGCCTGGTCATTTCCTCTCACACGGCCCTGTCTGTTATCTCCAGGGCTCATTCCTACCTTTAATCCACTTCTGTATCTACCTGTGTGTTGCCAGGGCCTGGACACAGGTGTACAGCTCCCGGACAGCAGCCATAGCCCAGCCAGGGTAGGGTGAAGTCTAAGTGGGTGCCTTATACGTGCCACATCTGCCCTCATTGATACAAAGGTGCCATATGGGCAGGCTTGTTTATTCCCCTCTATACTCCCTGCTTCTAGAACACTCTAGAATTGTCTGCCACATGGTAGGAGCTCAGTAAATGTTTCTTAAATAAAGGAATAACAACCGAAATTGGGCAACCTGGCCAGGCGCGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACGAGGTCAGGAGATTGAGACCACCCTGGTTAACACGGTGAAACCCCGTCTCTACCAAAAATACAAAAAATTAGCTGGGTATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAAAAAAAAAAAAAAAGAAAAACAGAAATTGCCACCGCGTGGAAGCTTTACTTTCGCTTTTGCTTTAATAAATCTTGCCACCGAAAAAAAAAAAATTGAAATTGTGCTCAAAGATTAACAGGTAAACCAAACATTAAATTGAGGATAAAATGACGAAACATAGGCTTTAAGGCAATGTGGAAAACCGTGTAACATTTTAAAGGGAAGCTCCTTTTTCTTTTGAGATAGGGTCTCACTCCGTTGCACAGGCTAAAGTGCAGTGGTGTGATCTCAGCTCGCTGCAGCCTCTACCTCCCAGGCTCAAGCAATGCTCCTGCTCAGCTTCCCAAGTGGCTGTGATGACTGGAACGTGCCGCATGTCCGGCTAATTTCTTTTCTATTTTTTGTAGAAATGGAGTTTCCCCATGTTGCCCAGGCTGACCTCAAACTCCTGGATTCAAGAGATCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCATGCCTGGCCAGGGTAGCTCTTTTCAACACTTACCGTTCAGTATCTGAAAGAGCATCAGCTTCAGGTTGAATTTCCAGCTCCAGGTGTAACCAGTCTTGGTAAGTTAACTGAGAAAGAGAGCAAGCAATTCAATACAATGAGGACAGAACACACAATCCACCGACAGGTTTATAAACCAGTTTGTCATTTCATCTCATACGCAGTCCTCCATGTCCCTGTGTTATAATGAAATTGCAGCTGAGAGTTCCACAGGAAAGAAACCTTAGTTTTATCAAGAATGATTTCTTACAGGATTTCCCTAGCACAAAGATGTTAGTACTGTAATCCTTCTTTCTAAGTATAAAACGGCTATTTTAGTCTGGGCAACATAGTAAGACCTCATCTCATTTAAAAATTACCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCAGCAGATTGCTTGAGCCTAGGAGTTTGACACCAGCCTAGGCAACATGGTGACACCCCGTCTCTACAAAAGATTTAAAAATCAGCCAGGTGTGGTGGCACATGTGTGTGGTCCCAGCCTCTTGGGAGGCTGAGGCAGGAGGATCTCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGTAACAGAGTGAGAACTATCTATAAAAAGGAAAAAAAAAAAAAAGAAAAAAGAAACTAACAAAACAACAACATTCTACAGCTATTCACAGTAGCATACCTTCATTTATTTTTGGAAACAGGTTCTGTTGCCCAGGCTGGAGTGTGTGCAGTGGTGCAATCGTAGCTCGCTGCAGACTCTGCCTCCTGAACTCCAGAATTCTCCCCCTCAGCCTCTCAGATGGCTGGGACTGCAGGTGCACATCACCATGACCAGCTAAGTTTTTTAAAAACATTTTTAGGAGGCCGAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAA
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ACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGGCTTGGCACGACCTGAACCATCAGCACGTGTTTTGCCGCAGGCAGCAGCGAGTTTTCTTTTTGTGGCCCCTATGTTTTCCTTTTCCTATTACTTCCATTGGTTTCATCCAGAATCTGATACCAGGATCCAGGTGCAGGCGACAGTGCTGCATGTGCCTGGAAGGCCCCTGATGGCCGGAAGGACGAGGAGCACAGGGTGGCTGTTGCCAACCCTCTCCTGAGTCTAGGTGTGGCAGGCACCCTGAGGCCCATATACCCACCAGGATACTCCATATCTGCAGTGACCACATTCCCCTCTCCCTGACCTCCACCCTAAACTCCACACCCTTAAACCCAACGGTCCTCTGGGCTCCCTACTCCTATGCCCAGAACAGCACATCTGGCCTCTCAAATAGTCTCAAATGGTCTCAGTCATCAGCCCTGGGACTCATGGGGGTTCACTGCTTCATTTACCCACTTCTTGGTGCCCCCAAGTCAAGGCTGGCATCACTCCTCAAAGTCTGCACCACCTGCTCCACACCAGCCTCTGCTCCTGCCTGGTCATTTCCTCTCACACGGCCCTGTCTGTTATCTCCAGGGCTCATTCCTACCTTTAATCCACTTCTGTATCTACCTGTGTGTTGCCAGGGCCTGGACACAGGTGTACAGCTCCCGGACAGCAGCCATAGCCCAGCCAGGGTAGGGTGAAGTCTAAGTGGGTGCCTTATACGTGCCACATCTGCCCTCATTGATACAAAGGTGCCATATGGGCAGGCTTGTTTATTCCCCTCTATACTCCCTGCTTCTAGAACACTCTAGAATTGTCTGCCACATGGTAGGAGCTCAGTAAATGTTTCTTAAATAAAGGAATAACAACCGAAATTGGGCAACCTGGCCAGGCGCGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACGAGGTCAGGAGATTGAGACCACCCTGGTTAACACGGTGAAACCCCGTCTCTACCAAAAATACAAAAAATTAGCTGGGTATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAAAAAAAAAAAAAAAGAAAAACAGAAATTGCCACCGCGTGGAAGCTTTACTTTCGCTTTTGCTTTAATAAATCTTGCCACCGAAAAAAAAAAAATTGAAATTGTGCTCAAAGATTAACAGGTAAACCAAACATTAAATTGAGGATAAAATGACGAAACATAGGCTTTAAGGCAATGTGGAAAACCGTGTAACATTTTAAAGGGAAGCTCCTTTTTCTTTTGAGATAGGGTCTCACTCCGTTGCACAGGCTAAAGTGCAGTGGTGTGATCTCAGCTCGCTGCAGCCTCTACCTCCCAGGCTCAAGCAATGCTCCTGCTCAGCTTCCCAAGTGGCTGTGATGACTGGAACGTGCCGCATGTCCGGCTAATTTCTTTTCTATTTTTTGTAGAAATGGAGTTTCCCCATGTTGCCCAGGCTGACCTCAAACTCCTGGATTCAAGAGATCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCATGCCTGGCCAGGGTAGCTCTTTTCAACACTTACCGTTCAGTATCTGAAAGAGCATCAGCTTCAGGTTGAATTTCCAGCCCCAGGTGTAACCAGTCTTGGTAAGTTAACTGAGAAAGAGAGCAAGCAATTCAATACAATGAGGACAGAACACACAATCCACCGACAGGTTTATAAACCAGTTTGTCATTTCATCTCATACGCAGTCCTCCATGTCCCTGTGTTATAATGAAATTGCAGCTGAGAGTTCCACAGGAAAGAAACCTTAGTTTTATCAAGAATGATTTCTTACAGGATTTCCCTAGCACAAAGATGTTAGTACTGTAATCCTTCTTTCTAAGTATAAAACGGCTATTTTAGTCTGGGCAACATAGTAAGACCTCATCTCATTTAAAAATTACCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCAGCAGATTGCTTGAGCCTAGGAGTTTGACACCAGCCTAGGCAACATGGTGACACCCCGTCTCTACAAAAGATTTAAAAATCAGCCAGGTGTGGTGGCACATGTGTGTGGTCCCAGCCTCTTGGGAGGCTGAGGCAGGAGGATCTCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGTAACAGAGTGAGAACTATCTATAAAAAGGAAAAAAAAAAAAAAGAAAAAAGAAACTAACAAAACAACAACATTCTACAGCTATTCACAGTAGCATACCTTCATTTATTTTTGGAAACAGGTTCTGTTGCCCAGGCTGGAGTGTGTGCAGTGGTGCAATCGTAGCTCGCTGCAGACTCTGCCTCCTGAACTCCAGAATTCTCCCCCTCAGCCTCTCAGATGGCTGGGACTGCAGGTGCACATCACCATGACCAGCTAAGTTTTTTAAAAACATTTTTAGGAGGCCGAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAA
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Subsets and Splits
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