ID
stringlengths 13
17
| question
stringlengths 88
1.13k
| answer
stringlengths 6
156
| reference_sequence
stringlengths 4.1k
4.1k
| variant_sequence
stringlengths 4.1k
4.1k
|
|---|---|---|---|---|
Task1_train_22900
|
A mutation found in FA2H, LOC130059394 (fatty acid 2-hydroxylase| ATAC-STARR-seq lymphoblastoid silent region 7701) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Spastic paraplegia
|
GAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCATGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGA
|
GAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACTAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCATGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGA
|
Task1_train_22901
|
Here is a variant affecting FA2H, LOC130059394 (fatty acid 2-hydroxylase| ATAC-STARR-seq lymphoblastoid silent region 7701) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Spastic paraplegia
|
TCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCATGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGAGATCGAGACCATCTTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGCTGTGGAGGCACGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGG
|
TCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCGTGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGAGATCGAGACCATCTTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGCTGTGGAGGCACGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGG
|
Task1_train_22902
|
Given this context: Chromosome 16, gene FA2H, LOC130059394 (fatty acid 2-hydroxylase| ATAC-STARR-seq lymphoblastoid silent region 7701) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Hereditary spastic paraplegia 35
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CCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCATGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGAGATCGAGACCATCTTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGCTGTGGAGGCACGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGG
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CCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCACGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGAGATCGAGACCATCTTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGCTGTGGAGGCACGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGG
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Task1_train_22903
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This genomic variant is located on Chromosome 16, within the FA2H, LOC130059394 (fatty acid 2-hydroxylase| ATAC-STARR-seq lymphoblastoid silent region 7701) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Spastic paraplegia
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CCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCATGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGAGATCGAGACCATCTTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGCTGTGGAGGCACGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGG
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CCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCACGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGAGATCGAGACCATCTTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGCTGTGGAGGCACGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGG
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Task1_train_22904
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A genomic change on Chromosome 16 affects LDHD (lactate dehydrogenase D). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Lactic aciduria due to D-lactic acid
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ACCCCATGAAGAGGTGGGTGCAAAAATAGTCTCATCTCTGTTTCTAGAGACGTGGCAGCTGCTGAGGAACACATTCAGTGTGTTCAGAGGCCCGGTTCAGGCCCAGTTGGGGAGCCCATCCTGAGTGACATGTGCCGTGGGCAGGTCCTCAGCTCTGAGGCGGAGTAGCTGGGACAGGGACCTGGGTTCCTTTCCGAACCCTGAGCACCAACCTCCTCCCCAGGCTATAAGAAGTCAGAGGACAGCCCCAAAACAAAGGGGTCACTGACCAAAGGACAGAGACCCTGGAGGGGGAGGGGAGGAAGTGCTGCCTGCTGACTTCCAGGTAGCTGTAGGTGGGTTTCAGGTTTATTACAGATTTATTGGGGGAGGCCCCAAGGAGAAGACCTATCATCATGTCACGGGAGCTCACGTTCCATACCAGGAAAGGAGTGTTCCTGTCACCAGGTGAAGGGGGAAGGGTCCTGGGACCCCGGCAGTGGGAGGCCTCGGGGAGGGGTGTCATCAGAGTCTTGAATGGACCCAGACGCTCTCTTCCCGCCAGGACAGGATGCGTAGGAGCAGAGAGGAAGCAGCTTTGCTGGGAACCACCCTGGGTCGTTTACTGAACCAAAGGCTCCTGGGGCCAGCCAGAGGGCCAGGGAGGTAACACGGTGCTCAGGCTTCTCTCTGGGCCCTCTGGCCTTGGGCCCAGATACAGTGGGCTCGCTGGCAGGAAGACTGCCTCAGCATCTATTTCCTTGCAGGGGCCGTGGCATGAAGAAAAGTTCCAGAACCGGCTCCGTAGTCAGGGAACTTGTGGGCTAAGTGCTCAGACCCCCTTCACAGCACTTTGCCTGGATTCATGAGGCCTTGGGGGTCTAGCACGGCCTTGAGCTGCCGCATGGTCTCCACGCCCACGGCGCCCACCTCCTCCTGCAGCAGCTGCCGCTTGCCCATTCCGATGCCATGCTCCCCCGTGCACGTTCCGTGGAGAGCCAGTGCCCGCCTGGGGGCAGGAAGGAGACATCCTCAGGGGGCTCCCTTTCCTCTGCCCTCAGCTCTTCCCCTCCCTGGCTTTGCTCCTACCTGCCCAGCTGTTCTGCAAAAGCCTTGACCCTGCCCAGTTCCTCGGCGTCATCAGGGTTGACCAGCAGGATGCAGTGGAAGTTGCCGTCACCCACATGCCCGACAATGCTTCCTGGGGGCCCAGAGGACAGAACTATTCTCCAGCCCAGTCCTCCTCTTGCCTCCTGCTGCCCCAGGCTCTGATCAGCCCTGACACCTCCCCACCTCTCCCCAGCAGCAGGGTGGGCAGAACCTGTGAGTCCTGAGGCATTCAGATCCTCCTTGGTCTGCACCACGATCTCCGGCAGCCGGGAGATGGGCACACACACATCCGTGGAGTAGCCCTGGTCAGAGGGAAGCCTATGAGTTACCCCTGCCTGATTGGGTGTACGGGGTCACCGTGGTCAAGGCTGAGGATGGGTCGGAGGGCACTGGGCTTCAGCTCTTGGCCTCACACAAGGAAATAATCCTGCTCTTCTCTAGGCCTCAGCCCTCACCTCCCCCCGACACAACACAGGAGACCAATGGCCCAGGTGTGCTTGCCACACCTCCCCTGTGGCTCCCACCCCCAAGCCCCAGGCTGCTGAGCCTTTGCATAGCTGCCTGGAGCCCAGACTTCCCTTCCCCAGGTTAGGCTAACATCCCCCTCTCTATCATCTCTTCCTCCAGGAAGCCTTCCTTCCATGTACAGCTCCCAAGAGCACCGCACCGTTCCCATGACCTGGCTCACAGGAAGGGCTTTTGAGGGCTTAGCAGACAACTGTGCTTTCCCTGTAGACGGTATCTGAACAGCTGGGTGGGGCGGTCTGCAGCCCTTGTTTCTAGCGCCTGCTCAGCCAGGCCCAGCCCCGTTGTTGAGGCTCAGCCTGCTGCTCTGTGCAGTAGAGTGGTGGGTTGAGGAAAGGGTTTGTGGGCCGAGCTGTGGGCCCCATCTGTACCCCAGCCCCAGCTCACCTTGCAGCCTGGCCGCGTGGCCAGGGCTGCGTACCAGGCATTGTGCCGTGCTGTCCAAAGCCGGCTGCGCTCCTCGGCCTCCTTGGCCCAGGAGAAGTCAGAGGCTCCGTTCTGCTGGACTATCTCCTCTGCAGTTGGGGAAGGGGGGCTGACACCGGGCCGCCACTGAGGCAGCCCACCCTGCTGCCCCACTCCACCCCAGCATACCTGTGCGCTGCAGCTGCTCCTCCAGTGCCTGCTGGGAGCCATGGAACTCCAGGAAGAGTGTGGGCGCCACTAAGCAATTCAGCTTGCTGTACCTGTTGCAGGCATCCATCATGACTTCATCCAGGAACTCTGGATCCAGGGAGATGGCAGGCCAGGTGAGGCCTGGCCTTCCCAGGGGGCCTCTTCCAGGGAGCCCACCCTGACTGCCCCCATCCTCAGCTCACCAATGCGGGCTACGGGCACTGCAGCCTGGAGGATGTGTACAGTGCTGTCCACAGCAGCCTGGACACTGGGGAACGCACACGTGGCGGCCACTGTGGCCTCAGGGGCAGGGTGCAGGCGCAGGGTGGTGGCTGTGATGAGGCCCAGCGTCCCCTCGGAGCCCACGAAGAGCCCCGTGAGGTTGTAGCCGGCTGCACTCTTCCTACGTCCCAGGGACACACAAGGTGAGTACCAGGCTGTGTGATGAGGGATTTCTGGCCAGAAGCCGAAGCTGGAACCCAAGACACCGACCCCAGGCACTGAGGTCTGGGCTGGCCTCCCTCGGGCCCAGTTTCCCTGGCCCAGTGCTTTCTGCTCCACAAAGCCAGTCGGCCTCAGGCAGGGAGAGCAAACCCTGGTCCCATCCACTTTGGCCCAGCTGACAGGGCTTCAGAGCCTGAGGAAGCCTAGCCTGCCAAACCAGGGGGCCGCCAGGAGGTGCTTTTCACAGCCCGGTCTCTGCAGGGCAGCCCGCCAGCAGTGCCCAGGGCCAGAGCCCGGGCCCCCCGCAGAGGGCGCTCACCGGAAATGCCGGCCTCGGCCCGCCGTGTGCAGCAGCCGCCCGTCGGGCAGCACCACCTCCAGGTTGAGCACGTTGTCCCGCATGGTGCCGTAGCGGACCGCGTTGGTCCCCGACGCCCCGGTGGCCGCCATGCCACAGAGAGAGGCGTCCGCGCCTGGGTCTGGAGGGCGGCGTACAGAAGGCAGCCTCAGGGACCGGAGGTCCTTTCCCTCGGGCTGGGGGAGGAAGGTCCCCTGAACCCCAGACACAGCCCTGCTCCCACGGTGCCCTCAGGGTCCCAGGAAAGGTTCGCGAGTCCTACCCACGGGAAACCAGAGGCCGCTGTCCCGCAGGTGGGCGTTGAGGGCTTTGCGGGTGACACCTGGCTCCACCACCACAGAGAAGTCCTCCTGGTTCAGCTCCAGGATTCGGTCCATATGCGTCAGGTTAACGCAGACGCCGCCCTGGTTGGGGCAGGTGCTAAGACCACTGCAGACCTGGGTCTCTGACCTGGCCACGTCCCCGGACCACACCCCGCGGGTGTCCCCCCAGCAGCCAGACCAGACCCCCAGAGGCAGGCAGCCCACGGGCGGGAGCAGACCCAAGGTGCCGTGTGTGGCGGGGGAGGCAGCCACAGGTGTGCCAAGGTGTGCTGGGACCATCCTCGGGCCGGGCGAGGGAGCCCCACTGTACCTGCACAGCACAGACGCCACCCTCAAGCCCGGTGCCGGTGCCGAATGGGATGATGGGCACACCTTGGCGATAGCACAGGGCTGCCAGCCGGCTGACCTGCTCCACGTTCTGGGGCCACACCACAGCATCAGGAGGTTCGCACCTAGAACCAGACCCTCAGCGATTTAGCGGGGCGTGACACCCTCTGGTCCCGAGGTGTTGCAGGGCCTGAGGCTACAGCAAGCGAGGGGCAGAGAACATGCCAGAGCACCCCAAAACAGATGAGTGAGGAGGAAGGCAACCCAGCACCCTCTCTCTCAGCTGGGGTTGAATCCAGAAGACAGGGGAGGGGCCCGCGAACCCTCCCATACCTGTGCACCGACTCATCGCGCCCGTGCTGCTCTCGGACCACCGCGGCAGTGGACACGTGGGAGCCGCCCACCACGGCCTTCA
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ACCCCATGAAGAGGTGGGTGCAAAAATAGTCTCATCTCTGTTTCTAGAGACGTGGCAGCTGCTGAGGAACACATTCAGTGTGTTCAGAGGCCCGGTTCAGGCCCAGTTGGGGAGCCCATCCTGAGTGACATGTGCCGTGGGCAGGTCCTCAGCTCTGAGGCGGAGTAGCTGGGACAGGGACCTGGGTTCCTTTCCGAACCCTGAGCACCAACCTCCTCCCCAGGCTATAAGAAGTCAGAGGACAGCCCCAAAACAAAGGGGTCACTGACCAAAGGACAGAGACCCTGGAGGGGGAGGGGAGGAAGTGCTGCCTGCTGACTTCCAGGTAGCTGTAGGTGGGTTTCAGGTTTATTACAGATTTATTGGGGGAGGCCCCAAGGAGAAGACCTATCATCATGTCACGGGAGCTCACGTTCCATACCAGGAAAGGAGTGTTCCTGTCACCAGGTGAAGGGGGAAGGGTCCTGGGACCCCGGCAGTGGGAGGCCTCGGGGAGGGGTGTCATCAGAGTCTTGAATGGACCCAGACGCTCTCTTCCCGCCAGGACAGGATGCGTAGGAGCAGAGAGGAAGCAGCTTTGCTGGGAACCACCCTGGGTCGTTTACTGAACCAAAGGCTCCTGGGGCCAGCCAGAGGGCCAGGGAGGTAACACGGTGCTCAGGCTTCTCTCTGGGCCCTCTGGCCTTGGGCCCAGATACAGTGGGCTCGCTGGCAGGAAGACTGCCTCAGCATCTATTTCCTTGCAGGGGCCGTGGCATGAAGAAAAGTTCCAGAACCGGCTCCGTAGTCAGGGAACTTGTGGGCTAAGTGCTCAGACCCCCTTCACAGCACTTTGCCTGGATTCATGAGGCCTTGGGGGTCTAGCACGGCCTTGAGCTGCCGCATGGTCTCCACGCCCACGGCGCCCACCTCCTCCTGCAGCAGCTGCCGCTTGCCCATTCCGATGCCATGCTCCCCCGTGCACGTTCCGTGGAGAGCCAGTGCCCGCCTGGGGGCAGGAAGGAGACATCCTCAGGGGGCTCCCTTTCCTCTGCCCTCAGCTCTTCCCCTCCCTGGCTTTGCTCCTACCTGCCCAGCTGTTCTGCAAAAGCCTTGACCCTGCCCAGTTCCTCGGCGTCATCAGGGTTGACCAGCAGGATGCAGTGGAAGTTGCCGTCACCCACATGCCCGACAATGCTTCCTGGGGGCCCAGAGGACAGAACTATTCTCCAGCCCAGTCCTCCTCTTGCCTCCTGCTGCCCCAGGCTCTGATCAGCCCTGACACCTCCCCACCTCTCCCCAGCAGCAGGGTGGGCAGAACCTGTGAGTCCTGAGGCATTCAGATCCTCCTTGGTCTGCACCACGATCTCCGGCAGCCGGGAGATGGGCACACACACATCCGTGGAGTAGCCCTGGTCAGAGGGAAGCCTATGAGTTACCCCTGCCTGATTGGGTGTACGGGGTCACCGTGGTCAAGGCTGAGGATGGGTCGGAGGGCACTGGGCTTCAGCTCTTGGCCTCACACAAGGAAATAATCCTGCTCTTCTCTAGGCCTCAGCCCTCACCTCCCCCCGACACAACACAGGAGACCAATGGCCCAGGTGTGCTTGCCACACCTCCCCTGTGGCTCCCACCCCCAAGCCCCAGGCTGCTGAGCCTTTGCATAGCTGCCTGGAGCCCAGACTTCCCTTCCCCAGGTTAGGCTAACATCCCCCTCTCTATCATCTCTTCCTCCAGGAAGCCTTCCTTCCATGTACAGCTCCCAAGAGCACCGCACCGTTCCCATGACCTGGCTCACAGGAAGGGCTTTTGAGGGCTTAGCAGACAACTGTGCTTTCCCTGTAGACGGTATCTGAACAGCTGGGTGGGGCGGTCTGCAGCCCTTGTTTCTAGCGCCTGCTCAGCCAGGCCCAGCCCCGTTGTTGAGGCTCAGCCTGCTGCTCTGTGCAGTAGAGTGGTGGGTTGAGGAAAGGGTTTGTGGGCCGAGCTGTGGGCCCCATCTGTACCCCAGCCCCAGCTCACCTTGCAGCCTGGCCGCGTGGCCAGGGCTGCGTACCAGGCATTGTGCCATGCTGTCCAAAGCCGGCTGCGCTCCTCGGCCTCCTTGGCCCAGGAGAAGTCAGAGGCTCCGTTCTGCTGGACTATCTCCTCTGCAGTTGGGGAAGGGGGGCTGACACCGGGCCGCCACTGAGGCAGCCCACCCTGCTGCCCCACTCCACCCCAGCATACCTGTGCGCTGCAGCTGCTCCTCCAGTGCCTGCTGGGAGCCATGGAACTCCAGGAAGAGTGTGGGCGCCACTAAGCAATTCAGCTTGCTGTACCTGTTGCAGGCATCCATCATGACTTCATCCAGGAACTCTGGATCCAGGGAGATGGCAGGCCAGGTGAGGCCTGGCCTTCCCAGGGGGCCTCTTCCAGGGAGCCCACCCTGACTGCCCCCATCCTCAGCTCACCAATGCGGGCTACGGGCACTGCAGCCTGGAGGATGTGTACAGTGCTGTCCACAGCAGCCTGGACACTGGGGAACGCACACGTGGCGGCCACTGTGGCCTCAGGGGCAGGGTGCAGGCGCAGGGTGGTGGCTGTGATGAGGCCCAGCGTCCCCTCGGAGCCCACGAAGAGCCCCGTGAGGTTGTAGCCGGCTGCACTCTTCCTACGTCCCAGGGACACACAAGGTGAGTACCAGGCTGTGTGATGAGGGATTTCTGGCCAGAAGCCGAAGCTGGAACCCAAGACACCGACCCCAGGCACTGAGGTCTGGGCTGGCCTCCCTCGGGCCCAGTTTCCCTGGCCCAGTGCTTTCTGCTCCACAAAGCCAGTCGGCCTCAGGCAGGGAGAGCAAACCCTGGTCCCATCCACTTTGGCCCAGCTGACAGGGCTTCAGAGCCTGAGGAAGCCTAGCCTGCCAAACCAGGGGGCCGCCAGGAGGTGCTTTTCACAGCCCGGTCTCTGCAGGGCAGCCCGCCAGCAGTGCCCAGGGCCAGAGCCCGGGCCCCCCGCAGAGGGCGCTCACCGGAAATGCCGGCCTCGGCCCGCCGTGTGCAGCAGCCGCCCGTCGGGCAGCACCACCTCCAGGTTGAGCACGTTGTCCCGCATGGTGCCGTAGCGGACCGCGTTGGTCCCCGACGCCCCGGTGGCCGCCATGCCACAGAGAGAGGCGTCCGCGCCTGGGTCTGGAGGGCGGCGTACAGAAGGCAGCCTCAGGGACCGGAGGTCCTTTCCCTCGGGCTGGGGGAGGAAGGTCCCCTGAACCCCAGACACAGCCCTGCTCCCACGGTGCCCTCAGGGTCCCAGGAAAGGTTCGCGAGTCCTACCCACGGGAAACCAGAGGCCGCTGTCCCGCAGGTGGGCGTTGAGGGCTTTGCGGGTGACACCTGGCTCCACCACCACAGAGAAGTCCTCCTGGTTCAGCTCCAGGATTCGGTCCATATGCGTCAGGTTAACGCAGACGCCGCCCTGGTTGGGGCAGGTGCTAAGACCACTGCAGACCTGGGTCTCTGACCTGGCCACGTCCCCGGACCACACCCCGCGGGTGTCCCCCCAGCAGCCAGACCAGACCCCCAGAGGCAGGCAGCCCACGGGCGGGAGCAGACCCAAGGTGCCGTGTGTGGCGGGGGAGGCAGCCACAGGTGTGCCAAGGTGTGCTGGGACCATCCTCGGGCCGGGCGAGGGAGCCCCACTGTACCTGCACAGCACAGACGCCACCCTCAAGCCCGGTGCCGGTGCCGAATGGGATGATGGGCACACCTTGGCGATAGCACAGGGCTGCCAGCCGGCTGACCTGCTCCACGTTCTGGGGCCACACCACAGCATCAGGAGGTTCGCACCTAGAACCAGACCCTCAGCGATTTAGCGGGGCGTGACACCCTCTGGTCCCGAGGTGTTGCAGGGCCTGAGGCTACAGCAAGCGAGGGGCAGAGAACATGCCAGAGCACCCCAAAACAGATGAGTGAGGAGGAAGGCAACCCAGCACCCTCTCTCTCAGCTGGGGTTGAATCCAGAAGACAGGGGAGGGGCCCGCGAACCCTCCCATACCTGTGCACCGACTCATCGCGCCCGTGCTGCTCTCGGACCACCGCGGCAGTGGACACGTGGGAGCCGCCCACCACGGCCTTCA
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Task1_train_22905
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The gene CHST6 (carbohydrate sulfotransferase 6), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Macular corneal dystrophy
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GGCTGTTCTTGAATGCCTGACCTCAGGTGATTCATCCCCCTCGGCCTCCCACAGTGCTGGGATTACAGGCATGAGCCACTGCATCCAGCCAAGTTACCCACTCTTAAGGTATTTTGTTATAACCACCTGAACAAGAACAAAGACATTCTCTAAGCCATGTAGTACACATTCATAAATCTGGGGTTTTAAATACCTTCCTCCTATAATTGTCACGAGGGACAGATTCAAGTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGA
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GGCTGTTCTTGAATGCCTGACCTCAGGTGATTCATCCCCCTCGGCCTCCCACAGTGCTGGGATTACAGGCATGAGCCACTGCATCCAGCCAAGTTACCCACTCTTAAGGTATTTTGTTATAACCACCTGAACAAGAACAAAGACATTCTCTAAGCCATGTAGTACACATTCATAAATCTGGGGTTTTAAATACCTTCCTCCTATAATTGTCACGAGGGACAGATTCAAGTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCGGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGA
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Task1_train_22906
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This alteration in CHST6 (carbohydrate sulfotransferase 6) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Macular corneal dystrophy
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ACAGATTCAAGTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGAC
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ACAGATTCAAGTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGTTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGAC
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Task1_train_22907
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This variant impacts the gene CHST6 (carbohydrate sulfotransferase 6) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Macular corneal dystrophy
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GTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAA
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GTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCCGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAA
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Task1_train_22908
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The variant affects gene CHST6 (carbohydrate sulfotransferase 6), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Macular corneal dystrophy
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CCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAG
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CCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCCTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAG
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Task1_train_22909
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Mutation context: Chromosome 16, Gene CHST6 (carbohydrate sulfotransferase 6). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Macular corneal dystrophy
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GGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAGGTTGAGGTGGGCAGATCACCTGAAGTCAGGAGTTCGACACCAACCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGTCTGTAGTCTCAGCTAGTTGGTAGGCTGAGACGTGAAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAG
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GGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGACAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAGGTTGAGGTGGGCAGATCACCTGAAGTCAGGAGTTCGACACCAACCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGTCTGTAGTCTCAGCTAGTTGGTAGGCTGAGACGTGAAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAG
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Task1_train_22910
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This variant affects the gene CHST6 (carbohydrate sulfotransferase 6) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Macular corneal dystrophy
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CACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAGGTTGAGGTGGGCAGATCACCTGAAGTCAGGAGTTCGACACCAACCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGTCTGTAGTCTCAGCTAGTTGGTAGGCTGAGACGTGAAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTATGCCACTGCACTCCAGCCTGG
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CACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCCCAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAGGTTGAGGTGGGCAGATCACCTGAAGTCAGGAGTTCGACACCAACCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGTCTGTAGTCTCAGCTAGTTGGTAGGCTGAGACGTGAAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTATGCCACTGCACTCCAGCCTGG
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Task1_train_22911
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This variant impacts the gene CHST6 (carbohydrate sulfotransferase 6) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Macular corneal dystrophy, type II
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CAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAGGTTGAGGTGGGCAGATCACCTGAAGTCAGGAGTTCGACACCAACCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGTCTGTAGTCTCAGCTAGTTGGTAGGCTGAGACGTGAAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTTTCTCAAAA
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CAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCTCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAGGTTGAGGTGGGCAGATCACCTGAAGTCAGGAGTTCGACACCAACCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGTCTGTAGTCTCAGCTAGTTGGTAGGCTGAGACGTGAAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTTTCTCAAAA
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Task1_train_22912
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A variant was discovered in gene CHST6 (carbohydrate sulfotransferase 6), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Macular corneal dystrophy
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TTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAGGTTGAGGTGGGCAGATCACCTGAAGTCAGGAGTTCGACACCAACCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGTCTGTAGTCTCAGCTAGTTGGTAGGCTGAGACGTGAAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTTTCTCAAAAACAAAAAAATGAGCCAATAAATAAAGTGGACAAAGAACACCAATTGTTGCCATCACCGGTAGGGGGTGAAGTGCTGAAGGCAGCATGGGCTCCAGAGGGAGGATGTCCTGGAGCCCTGTGGGTTTGCAAGGAGACCAGCTGAGGCGGAGCTGGGATGGAGCCAGAGAAGCAGAGAGGTGAGAGCAGAGGACTGTCCCGGCCAGCTGAGGGGACTCACCACTGTCCAGGGCTGCTGGGAGAGCTGCAACGCTGATCACAAATCCATGGGAGATGATT
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TTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACAAGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAGGTTGAGGTGGGCAGATCACCTGAAGTCAGGAGTTCGACACCAACCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGTCTGTAGTCTCAGCTAGTTGGTAGGCTGAGACGTGAAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTTTCTCAAAAACAAAAAAATGAGCCAATAAATAAAGTGGACAAAGAACACCAATTGTTGCCATCACCGGTAGGGGGTGAAGTGCTGAAGGCAGCATGGGCTCCAGAGGGAGGATGTCCTGGAGCCCTGTGGGTTTGCAAGGAGACCAGCTGAGGCGGAGCTGGGATGGAGCCAGAGAAGCAGAGAGGTGAGAGCAGAGGACTGTCCCGGCCAGCTGAGGGGACTCACCACTGTCCAGGGCTGCTGGGAGAGCTGCAACGCTGATCACAAATCCATGGGAGATGATT
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Task1_train_22913
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Consider this mutation in TMEM231 (transmembrane protein 231) on Chromosome 16. Is this a benign change or a disease-causing variant?
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Pathogenic; Joubert syndrome and related disorders
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CCAAACCCTTTCCCTCGAAAAAGGTACATGTGATCTTCCATTTTGACTTTTTTATTTATTTATTTATTTATTTTAACAGATAGGGTCTCACTCTGTCACCCAGGCTACAGTACAGTGGTGCAATCATAGCACACTGCAGCCTCAAGCTCCTGGGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGTTGAGATTACAGGAATGAACCACCATGCTCGGCCTCATTTTGAACATTTTAATTAGAAAGTTACAAAACATCATGGGTTCTTTATACAAGATTTGCATTAGAATAATTTAATAAAATGCAAACCAATGTTTATACGTATCTTGTCATCTTTCCATATCTCATTGCCTTATGTGAATTTAAACAAGAAACTATTTTTCGTTTAGATCTTAAGAAAAAAATTTAGGCATATAAAACAGCCTGAATATTAAAAAAAGACAAGGGGGTCAGTGTTAGGGAATTCCTCTGCTTGAATACTTCAAAATAGCTTTGTTTCCAAAACTGTTTTAGTAAGCCTAAAGGAGCACTAAAAACGACAACTGATCTCCAAAGTAAACTGAGGCACACACTGAGGGGTGTGTTTCTGGGTGGGCATGAAGCATGGATCACCGGGGCCATGTCCTTCCAGTGGCAATGACCTGCTTGGGATCAGGAAGCAGCTCCATGTGTTCTTGGAGGAGACTGCCCACATCCTCAGGAGGTGAATGGGCTGAACAAGCCATCTTCCGTGTGCAGAGGCCCCTTCCAGCCATCTCTGCTCCTGCAGACACTTGCTTAGCCACGAGGGTAATCCACTGGACTGCTTGGTATTCTGCTAGTGGCCAGGCTGGACTGGCCTGCCCAGGCCAGCATCCTCTTTACACTCTTACTGCTTCTTGTGTCCTTCCCAAAGCTGCCCGCCCCACTCTGATGGGCACCCTGTTCCTTAGTCAAGGGAAACGCCAGCCGCTGGGCTTCCCGCTAGCCTTCCAAATAAACTTGTGGTTGTCAGGCAGCGGGAGCCAATCCCAACACCAACCCCTGTCGCCCCTGTCCTTTGCAGGAAGGGGGAGGGCTGTCAAGGAGGAGGAGGGCCAAGTGCCCAGGCTGTTGGGTGAGGGCCAGAAAGAACCTGTTGTGACAATGCTTTCTTCCCCCAGTGCTGCTGAGGGGGCTGAGAATGAAACAGCCCCTCTGACTTCAGCCTGCCATCCAGGGGCACAGACAGAGGGAAAAATAGGGCAAAGAGCCCAGTCACAGTACGGCAAAGATCCAGGGCTGCTCAGCTGAGCTGATGACAGATGACTGACTGTTGGGCTGGGGCAGGTGGACGGTCCAAGTGTCCTTCAGCGGCCCTCCCTGATTGCCTGTGCTAATGCGGCCCTTGCCCTTGGGCCCTGCCCCTCCAGGTCTCCAGTTAAAGGCCTCAGCTCTGGAAATCAAAGCTGTGAATGGGAAATGGAGAAGCCCAGGGGTGCAAAGTGCTAGTGATTGGCATGTTTGTCACAAGAGAGCCCTGAAAAGAGTAAGAGTGGCTCACAACAGAAGGTAGAAATGCACAGTGTGTTCCTCAGTTCAACAGAGGAAAAGTCTCTGCTTGACCAGAGATGGGACTCTTTCCAAGATGTCTGAACTGACTGCAATTTTCTCCTGAAATTCAACGCTAAGGCAAAGAAGGAAAACCCAAAAAGCTAATTATAGCCTCCAGGAACTCTCAGACCTTTCCACAAACTAGTCCCTGACAATTCTGCAGGAGCTCTGAAGATACGGAACTGTGTAGAGCAAAACCGGAAAGAACCGTTGTCTCTGAGGGAAAAGCACACAAGCCCGCAGGTGTCCGCTGGGCTCTTTCAAAAGGTCCTAAGATGTTCCCAGAAGATGACAATGAGGCAGCCACGGTCCTGCTGAGTCTTCAGAAATGGCCTTTCTAGGATAAGTGCTCCTTACACAAGTCTCCCCGGGGCGTCACTGTCACAGGAATGGTGGTCACCACCTGATTCTGAAACACGAAGATCTTGATTCTTTCAAACACCCAGAGGAAGATAAGCAGGATGCTGACATACTGCACCCAGGCGAACTTTACCATCTCCCAGAATCCTGGCTGATAAGTATGGACAGTTAAGGAGTGAAGGGCCACATGGTGTTAAGTATGAAGAGAAAATCCAAGATGGAATTGGCTGTGGCAGAGGTATCTCGAAAGGAGGCAGGACCTCTGTCATGTACACACCCAGATGGAAGCTGACCTGAACTTGGCCAAATGGTAAAACCAGCCACATTTGATTTGAGCTATTTATATACCAAGCCTGATGACCAACCTCCTAAACAGACAACTATGCCAAACTAGATTGATCATGGACTAGAGATATCCTGAGCTGTTAACCAGCCATCCATCCATCTTCTAAAATCTTCCAGTTGTGTAAACTTGGAACACCCTTAGCCCCTGCCTAATTGCACCTGTACGGAACACAATTTAGCTGCTTCCTAGGTTTGTGTCTCTGGAATTGTAATTCCTAAGACCCCAGTTAAAATGCCTTCTCTTTTGTTTGCTTCTCTGCAGTGTTGGTGTTGGTTTCATTTTCCATTAGTCGACCTAAGTCAAAATTAAACCAAAGTTTAGGTCAGACAGGGACTGGCAAGAATGTTTCACATAACCTTAGCATAAAAGGGATATCATATGATTATTAAGACATAAATATGGATGATTCTTACCTAGAAGAATTGCTTGGAAACAAATAGGACCAAGACATGAATTATTTGTTCCTATATGAATAGCAGACATACAGTCATTTTCTGAGACATGTAGCCTAAGATGTCAAAGACGCAGCCATTTTTATGAGGCTATAACCCTGTCATGATTTCCAAGAGAAAACCTCCCACGTCTGTTACTACTTGAGACAACTAAGGAATCATTCCTCTTTGAAAACTGAGCTACCATTGATTTTTTTTAAATTGTTGTTTGCTTTAAGAGGCAGGGTCTCACTCTGTCACCGAGGCTGGAGTACAGTGGCACAATCATCGCTCACTGCAAGCTTGAATTCCTGGACTCAAGCAATCCTCCTGCCTCGGCATCCCAAGTAACTGGGACTACACATGTACGCCACTATGCCTGGCTAATTTTTTTTTTTTTTTTTTTGGTAGAGACAGGGACTCACTATCTTGGCCAGGCTGGTTGTGAACTCCTGGGTTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGAAATTATAGGCAGGAGCCACCACATCCAGCCTTAACATGGACTCTTTAACAGAAAGGATATGAAATGACTTCCACAGGGTATCGGATGATAGCATTAATCACAAATGGAGCATCTGCGGCCCTGCCCACCAGCCAGATGGGGTTGGGATCATTCAGGACGGTGGTAACTGCAATGCAATCATTAACCATTAACCACGATGGCTGTTTGACTCTGGCAGTTGAAGGCTATAAAGATTATTTGATACCTGGAAATTATCCTGTGCTTCAGAACTGAAAGAAATCATTCGGAAGGAAAGAGAAATTGCATGTGCAAAGCTGATCACACATTATTTGTTAAAATAATAGTCAAAATACTTTTGTTAAAATACATAAAAAACTTGGAAAGAGTTTCTTCTACATGTGCTGAATGGCTAACTGAAGGAATACTATACTGCCACTAAAAGTAGTATCACAGCTTTGTAGCTGTGTGGGGAAGTATTTATATTCCAAGTTTAAATAAATAAAAGTAACTTGGATCCCAATGTGTTTCTACACTACAATGGCTGTATAAAAAGATCTGCAGAAGGCTAAAGAATGAAAGGAATGAAAAAATAGTTGATTTGTAGGGCAATGTTTTCTACTTTTGTTTTAAAATTCCCTCTATTATTGCAATAATGCCACTAGTATATGCCATAAAATCAGTAAGCAATACTGGATTTGCAGTCATCCCCCTTGTGAGACGTCTGTGTATAGTCTCCATGATGTCTGCTTGCCAAGTAACACTGTAGATGCTTTTAGAGAAAACCTCAGCCACCGACCAGACAAACGTGCCGAGTCCACACATGCCATGGCCTAGAGCTCTGTAAGGAATAAGCACACTGTGCCTTCTGGCAGGAAACAGGGGCACTCC
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CCAAACCCTTTCCCTCGAAAAAGGTACATGTGATCTTCCATTTTGACTTTTTTATTTATTTATTTATTTATTTTAACAGATAGGGTCTCACTCTGTCACCCAGGCTACAGTACAGTGGTGCAATCATAGCACACTGCAGCCTCAAGCTCCTGGGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGTTGAGATTACAGGAATGAACCACCATGCTCGGCCTCATTTTGAACATTTTAATTAGAAAGTTACAAAACATCATGGGTTCTTTATACAAGATTTGCATTAGAATAATTTAATAAAATGCAAACCAATGTTTATACGTATCTTGTCATCTTTCCATATCTCATTGCCTTATGTGAATTTAAACAAGAAACTATTTTTCGTTTAGATCTTAAGAAAAAAATTTAGGCATATAAAACAGCCTGAATATTAAAAAAAGACAAGGGGGTCAGTGTTAGGGAATTCCTCTGCTTGAATACTTCAAAATAGCTTTGTTTCCAAAACTGTTTTAGTAAGCCTAAAGGAGCACTAAAAACGACAACTGATCTCCAAAGTAAACTGAGGCACACACTGAGGGGTGTGTTTCTGGGTGGGCATGAAGCATGGATCACCGGGGCCATGTCCTTCCAGTGGCAATGACCTGCTTGGGATCAGGAAGCAGCTCCATGTGTTCTTGGAGGAGACTGCCCACATCCTCAGGAGGTGAATGGGCTGAACAAGCCATCTTCCGTGTGCAGAGGCCCCTTCCAGCCATCTCTGCTCCTGCAGACACTTGCTTAGCCACGAGGGTAATCCACTGGACTGCTTGGTATTCTGCTAGTGGCCAGGCTGGACTGGCCTGCCCAGGCCAGCATCCTCTTTACACTCTTACTGCTTCTTGTGTCCTTCCCAAAGCTGCCCGCCCCACTCTGATGGGCACCCTGTTCCTTAGTCAAGGGAAACGCCAGCCGCTGGGCTTCCCGCTAGCCTTCCAAATAAACTTGTGGTTGTCAGGCAGCGGGAGCCAATCCCAACACCAACCCCTGTCGCCCCTGTCCTTTGCAGGAAGGGGGAGGGCTGTCAAGGAGGAGGAGGGCCAAGTGCCCAGGCTGTTGGGTGAGGGCCAGAAAGAACCTGTTGTGACAATGCTTTCTTCCCCCAGTGCTGCTGAGGGGGCTGAGAATGAAACAGCCCCTCTGACTTCAGCCTGCCATCCAGGGGCACAGACAGAGGGAAAAATAGGGCAAAGAGCCCAGTCACAGTACGGCAAAGATCCAGGGCTGCTCAGCTGAGCTGATGACAGATGACTGACTGTTGGGCTGGGGCAGGTGGACGGTCCAAGTGTCCTTCAGCGGCCCTCCCTGATTGCCTGTGCTAATGCGGCCCTTGCCCTTGGGCCCTGCCCCTCCAGGTCTCCAGTTAAAGGCCTCAGCTCTGGAAATCAAAGCTGTGAATGGGAAATGGAGAAGCCCAGGGGTGCAAAGTGCTAGTGATTGGCATGTTTGTCACAAGAGAGCCCTGAAAAGAGTAAGAGTGGCTCACAACAGAAGGTAGAAATGCACAGTGTGTTCCTCAGTTCAACAGAGGAAAAGTCTCTGCTTGACCAGAGATGGGACTCTTTCCAAGATGTCTGAACTGACTGCAATTTTCTCCTGAAATTCAACGCTAAGGCAAAGAAGGAAAACCCAAAAAGCTAATTATAGCCTCCAGGAACTCTCAGACCTTTCCACAAACTAGTCCCTGACAATTCTGCAGGAGCTCTGAAGATACGGAACTGTGTAGAGCAAAACCGGAAAGAACCGTTGTCTCTGAGGGAAAAGCACACAAGCCCGCAGGTGTCCGCTGGGCTCTTTCAAAAGGTCCTAAGATGTTCCCAGAAGATGACAATGAGGCAGCCACGGTCCTGCTGAGTCTTCAGAAATGGCCTTTCTAGGATAAGTGCTCCTTACACAAGTCTCCCCGGGGCGTCACTGTCACAGGAATGGTGGTCACCACCTGATTCTGAAACACGAAGATCTTGATTCTTTCAAACACCCAGAGGAAGATAAGCAGGATGCTGACATACGGCACCCAGGCGAACTTTACCATCTCCCAGAATCCTGGCTGATAAGTATGGACAGTTAAGGAGTGAAGGGCCACATGGTGTTAAGTATGAAGAGAAAATCCAAGATGGAATTGGCTGTGGCAGAGGTATCTCGAAAGGAGGCAGGACCTCTGTCATGTACACACCCAGATGGAAGCTGACCTGAACTTGGCCAAATGGTAAAACCAGCCACATTTGATTTGAGCTATTTATATACCAAGCCTGATGACCAACCTCCTAAACAGACAACTATGCCAAACTAGATTGATCATGGACTAGAGATATCCTGAGCTGTTAACCAGCCATCCATCCATCTTCTAAAATCTTCCAGTTGTGTAAACTTGGAACACCCTTAGCCCCTGCCTAATTGCACCTGTACGGAACACAATTTAGCTGCTTCCTAGGTTTGTGTCTCTGGAATTGTAATTCCTAAGACCCCAGTTAAAATGCCTTCTCTTTTGTTTGCTTCTCTGCAGTGTTGGTGTTGGTTTCATTTTCCATTAGTCGACCTAAGTCAAAATTAAACCAAAGTTTAGGTCAGACAGGGACTGGCAAGAATGTTTCACATAACCTTAGCATAAAAGGGATATCATATGATTATTAAGACATAAATATGGATGATTCTTACCTAGAAGAATTGCTTGGAAACAAATAGGACCAAGACATGAATTATTTGTTCCTATATGAATAGCAGACATACAGTCATTTTCTGAGACATGTAGCCTAAGATGTCAAAGACGCAGCCATTTTTATGAGGCTATAACCCTGTCATGATTTCCAAGAGAAAACCTCCCACGTCTGTTACTACTTGAGACAACTAAGGAATCATTCCTCTTTGAAAACTGAGCTACCATTGATTTTTTTTAAATTGTTGTTTGCTTTAAGAGGCAGGGTCTCACTCTGTCACCGAGGCTGGAGTACAGTGGCACAATCATCGCTCACTGCAAGCTTGAATTCCTGGACTCAAGCAATCCTCCTGCCTCGGCATCCCAAGTAACTGGGACTACACATGTACGCCACTATGCCTGGCTAATTTTTTTTTTTTTTTTTTTGGTAGAGACAGGGACTCACTATCTTGGCCAGGCTGGTTGTGAACTCCTGGGTTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGAAATTATAGGCAGGAGCCACCACATCCAGCCTTAACATGGACTCTTTAACAGAAAGGATATGAAATGACTTCCACAGGGTATCGGATGATAGCATTAATCACAAATGGAGCATCTGCGGCCCTGCCCACCAGCCAGATGGGGTTGGGATCATTCAGGACGGTGGTAACTGCAATGCAATCATTAACCATTAACCACGATGGCTGTTTGACTCTGGCAGTTGAAGGCTATAAAGATTATTTGATACCTGGAAATTATCCTGTGCTTCAGAACTGAAAGAAATCATTCGGAAGGAAAGAGAAATTGCATGTGCAAAGCTGATCACACATTATTTGTTAAAATAATAGTCAAAATACTTTTGTTAAAATACATAAAAAACTTGGAAAGAGTTTCTTCTACATGTGCTGAATGGCTAACTGAAGGAATACTATACTGCCACTAAAAGTAGTATCACAGCTTTGTAGCTGTGTGGGGAAGTATTTATATTCCAAGTTTAAATAAATAAAAGTAACTTGGATCCCAATGTGTTTCTACACTACAATGGCTGTATAAAAAGATCTGCAGAAGGCTAAAGAATGAAAGGAATGAAAAAATAGTTGATTTGTAGGGCAATGTTTTCTACTTTTGTTTTAAAATTCCCTCTATTATTGCAATAATGCCACTAGTATATGCCATAAAATCAGTAAGCAATACTGGATTTGCAGTCATCCCCCTTGTGAGACGTCTGTGTATAGTCTCCATGATGTCTGCTTGCCAAGTAACACTGTAGATGCTTTTAGAGAAAACCTCAGCCACCGACCAGACAAACGTGCCGAGTCCACACATGCCATGGCCTAGAGCTCTGTAAGGAATAAGCACACTGTGCCTTCTGGCAGGAAACAGGGGCACTCC
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Task1_train_22914
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Gene TMEM231 (transmembrane protein 231) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Ciliopathy
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CAACAGTAAAACCCACTATATATCTACAAGTCTGGGTTTATGGCTGTAATAACCGATAACATCCCTTTTTCATTTTCAGAAGTACCTCAGCTCAACTTCTATGGTCCCCATTGTGATAAAATAAAAGTGAGGAATGAGTGATTAGATGCATGAGTTCTGCACACAGACAGGCTCTGTTATCTTTCAAGATTTGAGCCTTTGGGAAAATTAATCACTTTAAGCCCCAGTTACGTCTTCTGCAAAATGAGTTCATTATTTAAACAAGTATCTCTGTGAGCTTACCATCTGCCAGGCAGTGTGCTAGGCACGGATGTGATAGTATTTGAGATGCCACTGCTGTCAAGGCTGAGGGAGACAGCAAATAAACACACAAACACATATCCTGAGTAGGCCAGGCGGCAGGAGGGAGAGTCTGGCTGAGGAATGGTGGAAGGAGGGGCTGCTACTGTAGAAGCAGGTCAGAGAAGGACTGGGCTTGGGGATATCTGAACAGGGACCTGAATGGCATGGTCCGATAAGCCACATGGATGCCTGGCAGAGGAAATGGCAAAAGCAAAAGCCCTGAGGTGGCAGCTGCTTCTTGGGTTTGAGGAACAGCAAAAAGGCCAGGGGGGCTGGAAGGGAGCAAGCGGGGGCAGTGATGGGACAAGTGGCTGGAGTGCGGGGAAAGGACAATGCAGGCAGCTCAGAGGTTGCCATGATGATTAAAGGAGATGATATAGGTAAACGCCTGCACTCAGGGGTGGCATATGTTATGAGTTCAGTAAACTATGGCTAGTAATATTTCTGAAATACTTTACATGAACATTTTACATCATCATTTTACAGTGTCCTTCGGAGTACATCCTGCGTGTGACCAAGCGTGTGTATGGAAGACACAATGTGTGTGTGTGCACCCACGTGGACCTAAAAGCAATAAGCAATTTAGTTCTTCGACAAACACAGATTTTGTTTCTCTTCCCTTCTAGGTGTAACTATGCGTGTACCTTCTCTGTAGTTTGAAAAAATTCATGGCAAGAATTCTACAGAGACCCTCTTTGGTGCCACCCACAAAGAAATGATATTTCTACTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGAGATCTCAGCTCACTGTAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCTAGGATTACAGGCACGCACCACACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGTTGGCCAGACTGGTTTCAAACTCCGGACCTCAAGTGATCCATCCGCACATCTCCGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCGCCTGGCCTGACATTTCTACTTTTCATTCCCCTCTTTAAAGAACTTAATGAACAGTAACACAGAGAAACAAAGGAGCTGGACAATGAGAAGCGCTCTTACGTTGTATCGGGCATCTAGGCCACCACAGCTCAGCGGCTGCTTCTGCTGCAGCCTCAGGTCTCCGTTCACGTATAACTGGGATCCCGGGACAGGAAAGGAGGACTGGAGAAACGCCATGCTCTGCATCACGAGGGTCGCCATCCTCTGAAATCATTAGAAGGACCAACAATACCAACCGCCATCAGATCTGAAGGGCTCTGGGTGCTAAGAGTCACCTGTCTTGGCTGAAACCTAAGAGGCCCTCACATACCTAGCGTAGCCATGCAGGAAACACTGCCTAGAACCTTCTGAGCTATTAATAGCCCATGTCAGTTAATATGACTAGTGAAAACCATTCCATTGGCCTAAGTTAAATCCCAAACTACATGGGGAAGAGGGCCCGCTAGAGTGCGGGTCTTCTAGAAATCAGAAGAAGGACTCTGGTCTACTAAAAAGACACAAGGGAGAGGACAGCCTCCCAGCGGACTGACTCACGTGTAATCGATAGGAGAAAGTCAGGATGAGCTGCACACCGAGAACGTGCTCCGTGGACTGCAGGGGAAGCTCCAGCTTAAAATGTAACATGTCCGTCTTCCCATCCTGGTTCCTGTCTTCTTCTCTAGTCTAGGAAACCCAAACAGGCCCAGCAGCCCTGGTCACTAATGAGTCTGGGAGGAATCCACATCACTTCTGTAAATACACAATGACCCACTGTCTTGCTGTACACAACAGGCATTATCTCCTCCACTAAAAGAGAAAAGCAGATAGATGTAAGTGCATTAATACTGGGGAGAGACACAAAGTGCATGGTCCCTGAACTTCATATCTGGGCCTTTCAAATGTTCACTGGCCAAAATAAATGGGCAATAACAAAAAACATCTGGATAGTATTTGTGCCTTTCAGTTGTCTCATGTGATCTTGCTTATTTTGCACTGATATTTTTTTCTTTTTTACAAATATGCCTGAATTTGTATGGAAATTTTAAGTAGCATGTCAGAATAGTCTTCTATGTCTCTAGAAGTCAACTTGTTAAAATAGAAAAACACCTAATCCTAATCATTATGCATTCCTCCAACAAACTCAAACTCAACAGAAAATCACCAAGCTCTATTTTTTTTTGTTTTTTTTTGAGCCGGGGTCTAACTCTATCGCCCAGGCTGGAGTGCAGTGACGCAATCACGGCTCACTACAACCTCCGCCTCCCAGGGTCAAGGAATTGTCCTGCCTCAGCCTCCTGAGGAGCTGGGATTACAAGTGCCCACCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACTGGGTCTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCGGGTGATCCGCCCACCTCAGGCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCACCGCACCCGGCCTTACCAAACTCTGTTTATAGATTCTGAAACCACGAGTGTCTTTGCTTCAGATTCTTGATGTTGGATCTTATCTCATCATTCGTGTGAGGACCTGAAAGCCTTGTGCATCTTTTAGTAGCAATCAATGAAATGAAAAAGGAAGCTATGTCAAATCAGCAAAGTATTAAAACCATATCTATTTGATAAATTACGGGCATGAAAGGAAAGAAGACAGAGGTCTGTAGAGGAAAAAAGACAAAATACAGCTTATGAAGCATATGTAGGCAGTGAAAAAAAACTGGTATCCACTCCTACCATCCACAGTCTTGCCAAACAGTGATGCTAAAATGATGATCAGGAAAGCACGGTTACTGAAAAGTGATCACTGCTGACATGGTCCCTCTGCACAACTCTGGATCTTTTTGCTACAACTGATCCTTTCCCACTGTGGATTCCCAGAACAATTCTACTATCGTGTAGCAGCATTCCCATCTGGATCCACCATCTATGGATTCATTTTGATTCCCACCATTACTATTACGTAAGGAAGAGATTTTTTGTGTGTGTGCTTTTTCAGGCTAATAATAAGGTCATTTGAAATGAAGAAATCTCAATTTTCAGAAACTTTCAATTATTTCTTTCTTTCTAGACAATAATGTTCCTTCTCTTAGGTCTTGTTTTAGAGAAACCTCCCTCCCTTTTCTCTTGGATACTTCCTCTCTGCCCTGTTTCATCAGCTTCGGGGAGGGATATCTGCTACCAGGGCTGATGATCAAGTTACTGAGGCAATGATGGACTAGTCATTATAGGTAGGATGAAAAGAGCCTGCCTTGCGGATCATGAGGTCAGAAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGAGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGTTGGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAATAAAATAAAAAATAAATAAAAGAGCCTGCCTTGTCTCCTGTGGATTTTCTTCAATTGGGATCTGGGTAGAAAATCTTATGTAACTCTCTGTGATGGATCCACACCTTCTAGATCTTTAGGGTTGGACAGGAAGAAAAGAGCACATTTCTCAACTTGCAACAGAGGATAGTGGCCA
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CAACAGTAAAACCCACTATATATCTACAAGTCTGGGTTTATGGCTGTAATAACCGATAACATCCCTTTTTCATTTTCAGAAGTACCTCAGCTCAACTTCTATGGTCCCCATTGTGATAAAATAAAAGTGAGGAATGAGTGATTAGATGCATGAGTTCTGCACACAGACAGGCTCTGTTATCTTTCAAGATTTGAGCCTTTGGGAAAATTAATCACTTTAAGCCCCAGTTACGTCTTCTGCAAAATGAGTTCATTATTTAAACAAGTATCTCTGTGAGCTTACCATCTGCCAGGCAGTGTGCTAGGCACGGATGTGATAGTATTTGAGATGCCACTGCTGTCAAGGCTGAGGGAGACAGCAAATAAACACACAAACACATATCCTGAGTAGGCCAGGCGGCAGGAGGGAGAGTCTGGCTGAGGAATGGTGGAAGGAGGGGCTGCTACTGTAGAAGCAGGTCAGAGAAGGACTGGGCTTGGGGATATCTGAACAGGGACCTGAATGGCATGGTCCGATAAGCCACATGGATGCCTGGCAGAGGAAATGGCAAAAGCAAAAGCCCTGAGGTGGCAGCTGCTTCTTGGGTTTGAGGAACAGCAAAAAGGCCAGGGGGGCTGGAAGGGAGCAAGCGGGGGCAGTGATGGGACAAGTGGCTGGAGTGCGGGGAAAGGACAATGCAGGCAGCTCAGAGGTTGCCATGATGATTAAAGGAGATGATATAGGTAAACGCCTGCACTCAGGGGTGGCATATGTTATGAGTTCAGTAAACTATGGCTAGTAATATTTCTGAAATACTTTACATGAACATTTTACATCATCATTTTACAGTGTCCTTCGGAGTACATCCTGCGTGTGACCAAGCGTGTGTATGGAAGACACAATGTGTGTGTGTGCACCCACGTGGACCTAAAAGCAATAAGCAATTTAGTTCTTCGACAAACACAGATTTTGTTTCTCTTCCCTTCTAGGTGTAACTATGCGTGTACCTTCTCTGTAGTTTGAAAAAATTCATGGCAAGAATTCTACAGAGACCCTCTTTGGTGCCACCCACAAAGAAATGATATTTCTACTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGAGATCTCAGCTCACTGTAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCTAGGATTACAGGCACGCACCACACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGTTGGCCAGACTGGTTTCAAACTCCGGACCTCAAGTGATCCATCCGCACATCTCCGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCGCCTGGCCTGACATTTCTACTTTTCATTCCCCTCTTTAAAGAACTTAATGAACAGTAACACAGAGAAACAAAGGAGCTGGACAATGAGAAGCGCTCTTACGTTGTATCGGGCATCTAGGCCACCACAGCTCAGCGGCTGCTTCTGCTGCAGCCTCAGGTCTCCGTTCACGTATAACTGGGATCCCGGGACAGGAAAGGAGGACTGGAGAAACGCCATGCTCTGCATCACGAGGGTCGCCATCCTCTGAAATCATTAGAAGGACCAACAATACCAACCGCCATCAGATCTGAAGGGCTCTGGGTGCTAAGAGTCACCTGTCTTGGCTGAAACCTAAGAGGCCCTCACATACCTAGCGTAGCCATGCAGGAAACACTGCCTAGAACCTTCTGAGCTATTAATAGCCCATGTCAGTTAATATGACTAGTGAAAACCATTCCATTGGCCTAAGTTAAATCCCAAACTACATGGGGAAGAGGGCCCGCTAGAGTGCGGGTCTTCTAGAAATCAGAAGAAGGACTCTGGTCTACTAAAAAGACACAAGGGAGAGGACAGCCTCCCAGCGGACTGACTCACGTGTAATCGATAGGAGAAAGTCAGGATGAGCTGCACACCGAGAACGTGCTCCGTGGACTGCAGGGGAAGCTCCAGCTTAAAATGTACCATGTCCGTCTTCCCATCCTGGTTCCTGTCTTCTTCTCTAGTCTAGGAAACCCAAACAGGCCCAGCAGCCCTGGTCACTAATGAGTCTGGGAGGAATCCACATCACTTCTGTAAATACACAATGACCCACTGTCTTGCTGTACACAACAGGCATTATCTCCTCCACTAAAAGAGAAAAGCAGATAGATGTAAGTGCATTAATACTGGGGAGAGACACAAAGTGCATGGTCCCTGAACTTCATATCTGGGCCTTTCAAATGTTCACTGGCCAAAATAAATGGGCAATAACAAAAAACATCTGGATAGTATTTGTGCCTTTCAGTTGTCTCATGTGATCTTGCTTATTTTGCACTGATATTTTTTTCTTTTTTACAAATATGCCTGAATTTGTATGGAAATTTTAAGTAGCATGTCAGAATAGTCTTCTATGTCTCTAGAAGTCAACTTGTTAAAATAGAAAAACACCTAATCCTAATCATTATGCATTCCTCCAACAAACTCAAACTCAACAGAAAATCACCAAGCTCTATTTTTTTTTGTTTTTTTTTGAGCCGGGGTCTAACTCTATCGCCCAGGCTGGAGTGCAGTGACGCAATCACGGCTCACTACAACCTCCGCCTCCCAGGGTCAAGGAATTGTCCTGCCTCAGCCTCCTGAGGAGCTGGGATTACAAGTGCCCACCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACTGGGTCTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCGGGTGATCCGCCCACCTCAGGCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCACCGCACCCGGCCTTACCAAACTCTGTTTATAGATTCTGAAACCACGAGTGTCTTTGCTTCAGATTCTTGATGTTGGATCTTATCTCATCATTCGTGTGAGGACCTGAAAGCCTTGTGCATCTTTTAGTAGCAATCAATGAAATGAAAAAGGAAGCTATGTCAAATCAGCAAAGTATTAAAACCATATCTATTTGATAAATTACGGGCATGAAAGGAAAGAAGACAGAGGTCTGTAGAGGAAAAAAGACAAAATACAGCTTATGAAGCATATGTAGGCAGTGAAAAAAAACTGGTATCCACTCCTACCATCCACAGTCTTGCCAAACAGTGATGCTAAAATGATGATCAGGAAAGCACGGTTACTGAAAAGTGATCACTGCTGACATGGTCCCTCTGCACAACTCTGGATCTTTTTGCTACAACTGATCCTTTCCCACTGTGGATTCCCAGAACAATTCTACTATCGTGTAGCAGCATTCCCATCTGGATCCACCATCTATGGATTCATTTTGATTCCCACCATTACTATTACGTAAGGAAGAGATTTTTTGTGTGTGTGCTTTTTCAGGCTAATAATAAGGTCATTTGAAATGAAGAAATCTCAATTTTCAGAAACTTTCAATTATTTCTTTCTTTCTAGACAATAATGTTCCTTCTCTTAGGTCTTGTTTTAGAGAAACCTCCCTCCCTTTTCTCTTGGATACTTCCTCTCTGCCCTGTTTCATCAGCTTCGGGGAGGGATATCTGCTACCAGGGCTGATGATCAAGTTACTGAGGCAATGATGGACTAGTCATTATAGGTAGGATGAAAAGAGCCTGCCTTGCGGATCATGAGGTCAGAAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGAGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGTTGGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAATAAAATAAAAAATAAATAAAAGAGCCTGCCTTGTCTCCTGTGGATTTTCTTCAATTGGGATCTGGGTAGAAAATCTTATGTAACTCTCTGTGATGGATCCACACCTTCTAGATCTTTAGGGTTGGACAGGAAGAAAAGAGCACATTTCTCAACTTGCAACAGAGGATAGTGGCCA
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Task1_train_22915
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The gene TMEM231 (transmembrane protein 231) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Meckel syndrome, type 11
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TTTATGGCTGTAATAACCGATAACATCCCTTTTTCATTTTCAGAAGTACCTCAGCTCAACTTCTATGGTCCCCATTGTGATAAAATAAAAGTGAGGAATGAGTGATTAGATGCATGAGTTCTGCACACAGACAGGCTCTGTTATCTTTCAAGATTTGAGCCTTTGGGAAAATTAATCACTTTAAGCCCCAGTTACGTCTTCTGCAAAATGAGTTCATTATTTAAACAAGTATCTCTGTGAGCTTACCATCTGCCAGGCAGTGTGCTAGGCACGGATGTGATAGTATTTGAGATGCCACTGCTGTCAAGGCTGAGGGAGACAGCAAATAAACACACAAACACATATCCTGAGTAGGCCAGGCGGCAGGAGGGAGAGTCTGGCTGAGGAATGGTGGAAGGAGGGGCTGCTACTGTAGAAGCAGGTCAGAGAAGGACTGGGCTTGGGGATATCTGAACAGGGACCTGAATGGCATGGTCCGATAAGCCACATGGATGCCTGGCAGAGGAAATGGCAAAAGCAAAAGCCCTGAGGTGGCAGCTGCTTCTTGGGTTTGAGGAACAGCAAAAAGGCCAGGGGGGCTGGAAGGGAGCAAGCGGGGGCAGTGATGGGACAAGTGGCTGGAGTGCGGGGAAAGGACAATGCAGGCAGCTCAGAGGTTGCCATGATGATTAAAGGAGATGATATAGGTAAACGCCTGCACTCAGGGGTGGCATATGTTATGAGTTCAGTAAACTATGGCTAGTAATATTTCTGAAATACTTTACATGAACATTTTACATCATCATTTTACAGTGTCCTTCGGAGTACATCCTGCGTGTGACCAAGCGTGTGTATGGAAGACACAATGTGTGTGTGTGCACCCACGTGGACCTAAAAGCAATAAGCAATTTAGTTCTTCGACAAACACAGATTTTGTTTCTCTTCCCTTCTAGGTGTAACTATGCGTGTACCTTCTCTGTAGTTTGAAAAAATTCATGGCAAGAATTCTACAGAGACCCTCTTTGGTGCCACCCACAAAGAAATGATATTTCTACTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGAGATCTCAGCTCACTGTAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCTAGGATTACAGGCACGCACCACACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGTTGGCCAGACTGGTTTCAAACTCCGGACCTCAAGTGATCCATCCGCACATCTCCGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCGCCTGGCCTGACATTTCTACTTTTCATTCCCCTCTTTAAAGAACTTAATGAACAGTAACACAGAGAAACAAAGGAGCTGGACAATGAGAAGCGCTCTTACGTTGTATCGGGCATCTAGGCCACCACAGCTCAGCGGCTGCTTCTGCTGCAGCCTCAGGTCTCCGTTCACGTATAACTGGGATCCCGGGACAGGAAAGGAGGACTGGAGAAACGCCATGCTCTGCATCACGAGGGTCGCCATCCTCTGAAATCATTAGAAGGACCAACAATACCAACCGCCATCAGATCTGAAGGGCTCTGGGTGCTAAGAGTCACCTGTCTTGGCTGAAACCTAAGAGGCCCTCACATACCTAGCGTAGCCATGCAGGAAACACTGCCTAGAACCTTCTGAGCTATTAATAGCCCATGTCAGTTAATATGACTAGTGAAAACCATTCCATTGGCCTAAGTTAAATCCCAAACTACATGGGGAAGAGGGCCCGCTAGAGTGCGGGTCTTCTAGAAATCAGAAGAAGGACTCTGGTCTACTAAAAAGACACAAGGGAGAGGACAGCCTCCCAGCGGACTGACTCACGTGTAATCGATAGGAGAAAGTCAGGATGAGCTGCACACCGAGAACGTGCTCCGTGGACTGCAGGGGAAGCTCCAGCTTAAAATGTAACATGTCCGTCTTCCCATCCTGGTTCCTGTCTTCTTCTCTAGTCTAGGAAACCCAAACAGGCCCAGCAGCCCTGGTCACTAATGAGTCTGGGAGGAATCCACATCACTTCTGTAAATACACAATGACCCACTGTCTTGCTGTACACAACAGGCATTATCTCCTCCACTAAAAGAGAAAAGCAGATAGATGTAAGTGCATTAATACTGGGGAGAGACACAAAGTGCATGGTCCCTGAACTTCATATCTGGGCCTTTCAAATGTTCACTGGCCAAAATAAATGGGCAATAACAAAAAACATCTGGATAGTATTTGTGCCTTTCAGTTGTCTCATGTGATCTTGCTTATTTTGCACTGATATTTTTTTCTTTTTTACAAATATGCCTGAATTTGTATGGAAATTTTAAGTAGCATGTCAGAATAGTCTTCTATGTCTCTAGAAGTCAACTTGTTAAAATAGAAAAACACCTAATCCTAATCATTATGCATTCCTCCAACAAACTCAAACTCAACAGAAAATCACCAAGCTCTATTTTTTTTTGTTTTTTTTTGAGCCGGGGTCTAACTCTATCGCCCAGGCTGGAGTGCAGTGACGCAATCACGGCTCACTACAACCTCCGCCTCCCAGGGTCAAGGAATTGTCCTGCCTCAGCCTCCTGAGGAGCTGGGATTACAAGTGCCCACCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACTGGGTCTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCGGGTGATCCGCCCACCTCAGGCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCACCGCACCCGGCCTTACCAAACTCTGTTTATAGATTCTGAAACCACGAGTGTCTTTGCTTCAGATTCTTGATGTTGGATCTTATCTCATCATTCGTGTGAGGACCTGAAAGCCTTGTGCATCTTTTAGTAGCAATCAATGAAATGAAAAAGGAAGCTATGTCAAATCAGCAAAGTATTAAAACCATATCTATTTGATAAATTACGGGCATGAAAGGAAAGAAGACAGAGGTCTGTAGAGGAAAAAAGACAAAATACAGCTTATGAAGCATATGTAGGCAGTGAAAAAAAACTGGTATCCACTCCTACCATCCACAGTCTTGCCAAACAGTGATGCTAAAATGATGATCAGGAAAGCACGGTTACTGAAAAGTGATCACTGCTGACATGGTCCCTCTGCACAACTCTGGATCTTTTTGCTACAACTGATCCTTTCCCACTGTGGATTCCCAGAACAATTCTACTATCGTGTAGCAGCATTCCCATCTGGATCCACCATCTATGGATTCATTTTGATTCCCACCATTACTATTACGTAAGGAAGAGATTTTTTGTGTGTGTGCTTTTTCAGGCTAATAATAAGGTCATTTGAAATGAAGAAATCTCAATTTTCAGAAACTTTCAATTATTTCTTTCTTTCTAGACAATAATGTTCCTTCTCTTAGGTCTTGTTTTAGAGAAACCTCCCTCCCTTTTCTCTTGGATACTTCCTCTCTGCCCTGTTTCATCAGCTTCGGGGAGGGATATCTGCTACCAGGGCTGATGATCAAGTTACTGAGGCAATGATGGACTAGTCATTATAGGTAGGATGAAAAGAGCCTGCCTTGCGGATCATGAGGTCAGAAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGAGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGTTGGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAATAAAATAAAAAATAAATAAAAGAGCCTGCCTTGTCTCCTGTGGATTTTCTTCAATTGGGATCTGGGTAGAAAATCTTATGTAACTCTCTGTGATGGATCCACACCTTCTAGATCTTTAGGGTTGGACAGGAAGAAAAGAGCACATTTCTCAACTTGCAACAGAGGATAGTGGCCAGGAGACAACTGCCAGAAGAATCCAGACTCCAACACA
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TTTATGGCTGTAATAACCGATAACATCCCTTTTTCATTTTCAGAAGTACCTCAGCTCAACTTCTATGGTCCCCATTGTGATAAAATAAAAGTGAGGAATGAGTGATTAGATGCATGAGTTCTGCACACAGACAGGCTCTGTTATCTTTCAAGATTTGAGCCTTTGGGAAAATTAATCACTTTAAGCCCCAGTTACGTCTTCTGCAAAATGAGTTCATTATTTAAACAAGTATCTCTGTGAGCTTACCATCTGCCAGGCAGTGTGCTAGGCACGGATGTGATAGTATTTGAGATGCCACTGCTGTCAAGGCTGAGGGAGACAGCAAATAAACACACAAACACATATCCTGAGTAGGCCAGGCGGCAGGAGGGAGAGTCTGGCTGAGGAATGGTGGAAGGAGGGGCTGCTACTGTAGAAGCAGGTCAGAGAAGGACTGGGCTTGGGGATATCTGAACAGGGACCTGAATGGCATGGTCCGATAAGCCACATGGATGCCTGGCAGAGGAAATGGCAAAAGCAAAAGCCCTGAGGTGGCAGCTGCTTCTTGGGTTTGAGGAACAGCAAAAAGGCCAGGGGGGCTGGAAGGGAGCAAGCGGGGGCAGTGATGGGACAAGTGGCTGGAGTGCGGGGAAAGGACAATGCAGGCAGCTCAGAGGTTGCCATGATGATTAAAGGAGATGATATAGGTAAACGCCTGCACTCAGGGGTGGCATATGTTATGAGTTCAGTAAACTATGGCTAGTAATATTTCTGAAATACTTTACATGAACATTTTACATCATCATTTTACAGTGTCCTTCGGAGTACATCCTGCGTGTGACCAAGCGTGTGTATGGAAGACACAATGTGTGTGTGTGCACCCACGTGGACCTAAAAGCAATAAGCAATTTAGTTCTTCGACAAACACAGATTTTGTTTCTCTTCCCTTCTAGGTGTAACTATGCGTGTACCTTCTCTGTAGTTTGAAAAAATTCATGGCAAGAATTCTACAGAGACCCTCTTTGGTGCCACCCACAAAGAAATGATATTTCTACTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGAGATCTCAGCTCACTGTAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCTAGGATTACAGGCACGCACCACACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGTTGGCCAGACTGGTTTCAAACTCCGGACCTCAAGTGATCCATCCGCACATCTCCGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCGCCTGGCCTGACATTTCTACTTTTCATTCCCCTCTTTAAAGAACTTAATGAACAGTAACACAGAGAAACAAAGGAGCTGGACAATGAGAAGCGCTCTTACGTTGTATCGGGCATCTAGGCCACCACAGCTCAGCGGCTGCTTCTGCTGCAGCCTCAGGTCTCCGTTCACGTATAACTGGGATCCCGGGACAGGAAAGGAGGACTGGAGAAACGCCATGCTCTGCATCACGAGGGTCGCCATCCTCTGAAATCATTAGAAGGACCAACAATACCAACCGCCATCAGATCTGAAGGGCTCTGGGTGCTAAGAGTCACCTGTCTTGGCTGAAACCTAAGAGGCCCTCACATACCTAGCGTAGCCATGCAGGAAACACTGCCTAGAACCTTCTGAGCTATTAATAGCCCATGTCAGTTAATATGACTAGTGAAAACCATTCCATTGGCCTAAGTTAAATCCCAAACTACATGGGGAAGAGGGCCCGCTAGAGTGCGGGTCTTCTAGAAATCAGAAGAAGGACTCTGGTCTACTAAAAAGACACAAGGGAGAGGACAGCCTCCCAGCGGACTGACTCACGTGTAATCGATAGGAGAAAGTCAGGATGAGCTGCACACCGAGAACGTGCTCCGTGGACTGCAGGGGAAGCTCCAGCTTAAAATGTAACATGTCCGTCTTCCCATCCTGGTTCCTGTCTTCTTTTCTAGTCTAGGAAACCCAAACAGGCCCAGCAGCCCTGGTCACTAATGAGTCTGGGAGGAATCCACATCACTTCTGTAAATACACAATGACCCACTGTCTTGCTGTACACAACAGGCATTATCTCCTCCACTAAAAGAGAAAAGCAGATAGATGTAAGTGCATTAATACTGGGGAGAGACACAAAGTGCATGGTCCCTGAACTTCATATCTGGGCCTTTCAAATGTTCACTGGCCAAAATAAATGGGCAATAACAAAAAACATCTGGATAGTATTTGTGCCTTTCAGTTGTCTCATGTGATCTTGCTTATTTTGCACTGATATTTTTTTCTTTTTTACAAATATGCCTGAATTTGTATGGAAATTTTAAGTAGCATGTCAGAATAGTCTTCTATGTCTCTAGAAGTCAACTTGTTAAAATAGAAAAACACCTAATCCTAATCATTATGCATTCCTCCAACAAACTCAAACTCAACAGAAAATCACCAAGCTCTATTTTTTTTTGTTTTTTTTTGAGCCGGGGTCTAACTCTATCGCCCAGGCTGGAGTGCAGTGACGCAATCACGGCTCACTACAACCTCCGCCTCCCAGGGTCAAGGAATTGTCCTGCCTCAGCCTCCTGAGGAGCTGGGATTACAAGTGCCCACCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACTGGGTCTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCGGGTGATCCGCCCACCTCAGGCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCACCGCACCCGGCCTTACCAAACTCTGTTTATAGATTCTGAAACCACGAGTGTCTTTGCTTCAGATTCTTGATGTTGGATCTTATCTCATCATTCGTGTGAGGACCTGAAAGCCTTGTGCATCTTTTAGTAGCAATCAATGAAATGAAAAAGGAAGCTATGTCAAATCAGCAAAGTATTAAAACCATATCTATTTGATAAATTACGGGCATGAAAGGAAAGAAGACAGAGGTCTGTAGAGGAAAAAAGACAAAATACAGCTTATGAAGCATATGTAGGCAGTGAAAAAAAACTGGTATCCACTCCTACCATCCACAGTCTTGCCAAACAGTGATGCTAAAATGATGATCAGGAAAGCACGGTTACTGAAAAGTGATCACTGCTGACATGGTCCCTCTGCACAACTCTGGATCTTTTTGCTACAACTGATCCTTTCCCACTGTGGATTCCCAGAACAATTCTACTATCGTGTAGCAGCATTCCCATCTGGATCCACCATCTATGGATTCATTTTGATTCCCACCATTACTATTACGTAAGGAAGAGATTTTTTGTGTGTGTGCTTTTTCAGGCTAATAATAAGGTCATTTGAAATGAAGAAATCTCAATTTTCAGAAACTTTCAATTATTTCTTTCTTTCTAGACAATAATGTTCCTTCTCTTAGGTCTTGTTTTAGAGAAACCTCCCTCCCTTTTCTCTTGGATACTTCCTCTCTGCCCTGTTTCATCAGCTTCGGGGAGGGATATCTGCTACCAGGGCTGATGATCAAGTTACTGAGGCAATGATGGACTAGTCATTATAGGTAGGATGAAAAGAGCCTGCCTTGCGGATCATGAGGTCAGAAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGAGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGTTGGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAATAAAATAAAAAATAAATAAAAGAGCCTGCCTTGTCTCCTGTGGATTTTCTTCAATTGGGATCTGGGTAGAAAATCTTATGTAACTCTCTGTGATGGATCCACACCTTCTAGATCTTTAGGGTTGGACAGGAAGAAAAGAGCACATTTCTCAACTTGCAACAGAGGATAGTGGCCAGGAGACAACTGCCAGAAGAATCCAGACTCCAACACA
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Task1_train_22916
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The gene TMEM231 (transmembrane protein 231) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Meckel syndrome, type 11
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ATCTCTTTTTAGTAAACATTCAGTGTTCATATAATTAAGACTATGTCAATCCTATTCACAACTCTGATAACATTTTGGTTCTCAGTTTTCCTTACTTTTCATTTCCCTGCAGTTAATAATTATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGTTGCAGTGAGCAGAGAATTGCAGCACTGCACTCCAGCCTGGGCAACAGAACAAGACTGTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGAAATGTTGTCCCTAATAGTGAAAAAGTCAAAGCAAACCTCAAAAAGAATACAGCTGATTAATAAGTATTGATACATATACAAAACTGAGCCTTCAATTTCTGTCATTATATCTACCTGTAACTCTATCATATTTTAGAATGAGCATGCACTTTTGTAATCAGAATATAAGAACATTTATAAAGTAATAGGAGAAAAGTAACCTGAATCATATTAGGTTGGTGCAAAAGTAATTCCGGTTTTTTGTCATTACTTTTAATGGCAAAAGCCGCAATGACTTTTGCATCAACCTATTACTATTTTTTTTGCAGTTATTTATACGACCAATCGGATTTTTAAAAACAATTTTATTTAGTTGCTGGGAACAAGTCTGATTTTCTTTTCTCCTCAGCTATACAAGGTTGGCTTGTAGGGCAATCATCTTAGATATGTCTGAAGAGATTCGAATTTGAAAGAAGGAAAACCAGAAGTTTCATACTTCTAAAGGAAAACGTTTTCAGAAAATGAGTGAAAAGGAGTGACTACAAAGGAAGCATTCGCTTATCTCAAAGCAAATACTAAATTACAGATTCCTCTCAGCGCTCTACTGGTGAAAAAATTTAAAAATAAATAAATAAATTACAGACAGTAACATGCTTCCATTTCATCCCGACAGCTTCAGGATGGCGCAGTCTCCAATGGGACAAACCCAGGGAGGCGTGACTCGGCCACAGCGCGTTCTGGGAAGGCCGCTTAACCAATCAGCGCCTTGGTTTCCAGGGGTCAGGTCTGCATAAAAATGCTGCCCTTTCCGTTCCTATAGTGGTGTGATGCAGAAACGCCGCGACAGAATGGGGTTATCTACATTAACAGCGCGCGGCCTTCCAGGCTCCTAAATGGACTTTCACAAACACCCTCCATCAGGCCAGGCCCGCGGGTGTGACCCGGGCAGACACAGGCTGCCCCCACACTTCTGGACTCTGTGTCAGGGCGCACACGCTGACAGCATGGCTAACTTTCTGGGGGCCGGGGACATCTGGGAGAAGCAGAATGAAACAGAAGATCGATTCCCTAGGTCCTAGGAGATGAAACGCCACCTTTGCGGGTTCGCGAGTCCTTAGGATCAAAGCTGGGCTCCCCAGGGCCGGGGCCGCTCGCCCCACATCCTCATTCCAGTCCCCATCCCCACCCTATCCCCGACTCTGCCCCAGGCCCAGGCGGGAACCACGCACCGAAACGAGCGGGACGCGCAGGCGATCCCCTTGCAGCCGGTTGAAGGCGGGGAACGTGCTCCAGGCGAGGAACCCGTCGCTTTCGGGTCCGAGCAGGGCCACGAGCAGCACCTGGTGTTGGAAGCGCACGGTCGGCTGCTCCTCGTAGCTGCTCCGCTTCAGCCAAAACCCTGAGTTAAAGAGGGCGGTAGGGAGGCGGTTAGGGAGGCCGGCCCTGGCCGAGCGCGCCCGGGGAGCCTCGTGGCACAGCGGCCGGGGCAGGCTCACCGTGGCTCCGGAAGGCCACCAGCAGCGGCGGGATGTACGTGAGCGCAGCGGCCAGCAGCAGGAACAGCGCGGCTTTGGAGCAGAGCCCCGCGCGGTAACTGCGCTCGACCGGGTGAGAGAAGAGCTCATAGAGCGCCATGAGCACCGCTCGCAGGCACTCCGCGAGCCGGGGGACCAAGTTTGGCTTCTCCTGGTTGCCATCGCCTCGGTCTCCACGGCAACCGACGGCTCACAGAAAGGAGCCAATAGCAAGGCCGCACCGAAAGGAGCCAGTGGCGGGGGCGGGGTTAGCGGGCGTGGCGCTGCCGGGGACGGTCGGCCTAGCTTTTCGAGCTGTGTACGTTTGCGTAAAGGCTGGGCGGCGATAGAACGTTTCCGTGGACCAGAGTCGTGGCTGTTGTCTGTGTTAACATTTGTGTAAAATAAGATGCCCATAAAAGTTGACTTGAACACTGAGGAGGAAGAACTAAATATTTAAATTTCAACTGACATGGACACAAACAATGGTCACCAAGTCCCTAAACAGGTTGTGGGAGCCCCTTGAGGCGTTCATCCAGCGCTGTTTCGGAGAAATCTCTATTTCAGTCTACTCCTATACGTCAGTTATTGAAAAACAACAATCGCAAAAACAAGTTGACCTTTTTGTGTTCCTTGAGCCCAGTCGCAAAGGGCCCTCGTGACTGGGCCTCATGCTAGACAACATGTTACAAAAAGATCTAGGGTCCCAGACCACGCCAAAAAGCTTCATGAGACCTCTCCTCGTCTGTGCACTGACGAGTGGCCGGCTCTGGAGCCCAGGTCGTTGCTTCCCAGTCTGGAGGTGAATCCTCCATAGTCTGGTGAGTGTAAATATATATATATATATGTCTTTTTCCTTCTCCTCTTCCCATTGCAATTTGCTTATTATATCAATCTGCTTATTATATTAATTTGCTTATTATAATATCTGCATTGCCATTTACGTGGGATAAAGCTTGCTTACCCTTAAAGGTACTGTGTGTGTGCCTTTTCTTCTCCCCTAGCGCGTCTCCCGCACAGAACGAACACCTGCTTTTGTGTCATCTGTTAACCCCCAGTGTGGTTCCTACTGAAGTCCAGTCAGTCACAAGCCTGGCCGTGGTCCTGGACCTGGTCCTGGGCTGAGATCAAAGCCAGGTGCTTTTGCCCCCAGATTTTCTGTTGCTTCCACTATGCTCCCATGCAAGACAGACACGGAAACACAAATCCCCTGGCTCTTCCACGGATAGAGTGGAATTACTACAAAGCTCTGATGCACTTCGTTAACCCTGTGTTGGGTACAGCTCAGCCGCGAGTTTTACAGGAATATATGGTCCTCCCCAAAGATCACTGGCTTATTGCTTAATTGAATGCCTACACCCCCCCGCCACCACCCCCAACCAATATTTCTAACATGGTAGAAGGACTTTTTAAAAAAATCTATGGTCCACAGCCAATTTCTTCATCAAATGGCCCTGAATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAACCCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGATTACAGTGAGCGGAGATCACACATTGGACTCCAGCCTGGGTGGCAGCGAGACTCCATCTCAAACAACAACAACAACAACAAAAAGGTCCTGAGTGGCTGAGCACAGTGGCTCATGCCTGTAGGTCCAGCTACTCGGGAGGCCTGGGCAGGAGGAAGGCTTGAGCCCAGGAGGCTGCAGTGAGCCATGAATGCACTACTGCACTCCAGGCTGGGAGACAGAAGGAGACCTTGTCTCTAAAAAAATAAATACAAAATATTTAAATATAAGTAAATTTGTTAAAGGGTCAGTAAAATGACATTTAAGTGGAAAGACATGATAAGCTTTGTGATTTGGAAAAGTCACTCTAATGACAGCATGTCAGTAGT
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ATCTCTTTTTAGTAAACATTCAGTGTTCATATAATTAAGACTATGTCAATCCTATTCACAACTCTGATAACATTTTGGTTCTCAGTTTTCCTTACTTTTCATTTCCCTGCAGTTAATAATTATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGTTGCAGTGAGCAGAGAATTGCAGCACTGCACTCCAGCCTGGGCAACAGAACAAGACTGTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGAAATGTTGTCCCTAATAGTGAAAAAGTCAAAGCAAACCTCAAAAAGAATACAGCTGATTAATAAGTATTGATACATATACAAAACTGAGCCTTCAATTTCTGTCATTATATCTACCTGTAACTCTATCATATTTTAGAATGAGCATGCACTTTTGTAATCAGAATATAAGAACATTTATAAAGTAATAGGAGAAAAGTAACCTGAATCATATTAGGTTGGTGCAAAAGTAATTCCGGTTTTTTGTCATTACTTTTAATGGCAAAAGCCGCAATGACTTTTGCATCAACCTATTACTATTTTTTTTGCAGTTATTTATACGACCAATCGGATTTTTAAAAACAATTTTATTTAGTTGCTGGGAACAAGTCTGATTTTCTTTTCTCCTCAGCTATACAAGGTTGGCTTGTAGGGCAATCATCTTAGATATGTCTGAAGAGATTCGAATTTGAAAGAAGGAAAACCAGAAGTTTCATACTTCTAAAGGAAAACGTTTTCAGAAAATGAGTGAAAAGGAGTGACTACAAAGGAAGCATTCGCTTATCTCAAAGCAAATACTAAATTACAGATTCCTCTCAGCGCTCTACTGGTGAAAAAATTTAAAAATAAATAAATAAATTACAGACAGTAACATGCTTCCATTTCATCCCGACAGCTTCAGGATGGCGCAGTCTCCAATGGGACAAACCCAGGGAGGCGTGACTCGGCCACAGCGCGTTCTGGGAAGGCCGCTTAACCAATCAGCGCCTTGGTTTCCAGGGGTCAGGTCTGCATAAAAATGCTGCCCTTTCCGTTCCTATAGTGGTGTGATGCAGAAACGCCGCGACAGAATGGGGTTATCTACATTAACAGCGCGCGGCCTTCCAGGCTCCTAAATGGACTTTCACAAACACCCTCCATCAGGCCAGGCCCGCGGGTGTGACCCGGGCAGACACAGGCTGCCCCCACACTTCTGGACTCTGTGTCAGGGCGCACACGCTGACAGCATGGCTAACTTTCTGGGGGCCGGGGACATCTGGGAGAAGCAGAATGAAACAGAAGATCGATTCCCTAGGTCCTAGGAGATGAAACGCCACCTTTGCGGGTTCGCGAGTCCTTAGGATCAAAGCTGGGCTCCCCAGGGCCGGGGCCGCTCGCCCCACATCCTCATTCCAGTCCCCATCCCCACCCTATCCCCGACTCTGCCCCAGGCCCAGGCGGGAACCACGCACCGAAACGAGCGGGACGCGCAGGCGATCCCCTTGCAGCCGGTTGAAGGCGGGGAACGTGCTCCAGGCGAGGAACCCGTCGCTTTCGGGTCCGAGCAGGGCCACGAGCAGCACCTGGTGTTGGAAGCGCACGGTCGGCTGCTCCTCGTAGCTGCTCCGCTTCAGCCAAAACCCTGAGTTAAAGAGGGCGGTAGGGAGGCGGTTAGGGAGGCCGGCCCTGGCCGAGCGCGCCCGGGGAGCCTCGTGGCACAGCGGCCGGGGCAGGCTCACCGTGGCTCCGGAAGGTCACCAGCAGCGGCGGGATGTACGTGAGCGCAGCGGCCAGCAGCAGGAACAGCGCGGCTTTGGAGCAGAGCCCCGCGCGGTAACTGCGCTCGACCGGGTGAGAGAAGAGCTCATAGAGCGCCATGAGCACCGCTCGCAGGCACTCCGCGAGCCGGGGGACCAAGTTTGGCTTCTCCTGGTTGCCATCGCCTCGGTCTCCACGGCAACCGACGGCTCACAGAAAGGAGCCAATAGCAAGGCCGCACCGAAAGGAGCCAGTGGCGGGGGCGGGGTTAGCGGGCGTGGCGCTGCCGGGGACGGTCGGCCTAGCTTTTCGAGCTGTGTACGTTTGCGTAAAGGCTGGGCGGCGATAGAACGTTTCCGTGGACCAGAGTCGTGGCTGTTGTCTGTGTTAACATTTGTGTAAAATAAGATGCCCATAAAAGTTGACTTGAACACTGAGGAGGAAGAACTAAATATTTAAATTTCAACTGACATGGACACAAACAATGGTCACCAAGTCCCTAAACAGGTTGTGGGAGCCCCTTGAGGCGTTCATCCAGCGCTGTTTCGGAGAAATCTCTATTTCAGTCTACTCCTATACGTCAGTTATTGAAAAACAACAATCGCAAAAACAAGTTGACCTTTTTGTGTTCCTTGAGCCCAGTCGCAAAGGGCCCTCGTGACTGGGCCTCATGCTAGACAACATGTTACAAAAAGATCTAGGGTCCCAGACCACGCCAAAAAGCTTCATGAGACCTCTCCTCGTCTGTGCACTGACGAGTGGCCGGCTCTGGAGCCCAGGTCGTTGCTTCCCAGTCTGGAGGTGAATCCTCCATAGTCTGGTGAGTGTAAATATATATATATATATGTCTTTTTCCTTCTCCTCTTCCCATTGCAATTTGCTTATTATATCAATCTGCTTATTATATTAATTTGCTTATTATAATATCTGCATTGCCATTTACGTGGGATAAAGCTTGCTTACCCTTAAAGGTACTGTGTGTGTGCCTTTTCTTCTCCCCTAGCGCGTCTCCCGCACAGAACGAACACCTGCTTTTGTGTCATCTGTTAACCCCCAGTGTGGTTCCTACTGAAGTCCAGTCAGTCACAAGCCTGGCCGTGGTCCTGGACCTGGTCCTGGGCTGAGATCAAAGCCAGGTGCTTTTGCCCCCAGATTTTCTGTTGCTTCCACTATGCTCCCATGCAAGACAGACACGGAAACACAAATCCCCTGGCTCTTCCACGGATAGAGTGGAATTACTACAAAGCTCTGATGCACTTCGTTAACCCTGTGTTGGGTACAGCTCAGCCGCGAGTTTTACAGGAATATATGGTCCTCCCCAAAGATCACTGGCTTATTGCTTAATTGAATGCCTACACCCCCCCGCCACCACCCCCAACCAATATTTCTAACATGGTAGAAGGACTTTTTAAAAAAATCTATGGTCCACAGCCAATTTCTTCATCAAATGGCCCTGAATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAACCCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGATTACAGTGAGCGGAGATCACACATTGGACTCCAGCCTGGGTGGCAGCGAGACTCCATCTCAAACAACAACAACAACAACAAAAAGGTCCTGAGTGGCTGAGCACAGTGGCTCATGCCTGTAGGTCCAGCTACTCGGGAGGCCTGGGCAGGAGGAAGGCTTGAGCCCAGGAGGCTGCAGTGAGCCATGAATGCACTACTGCACTCCAGGCTGGGAGACAGAAGGAGACCTTGTCTCTAAAAAAATAAATACAAAATATTTAAATATAAGTAAATTTGTTAAAGGGTCAGTAAAATGACATTTAAGTGGAAAGACATGATAAGCTTTGTGATTTGGAAAAGTCACTCTAATGACAGCATGTCAGTAGT
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Task1_train_22917
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The gene TMEM231 (transmembrane protein 231), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Joubert syndrome 20
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ATCTCTTTTTAGTAAACATTCAGTGTTCATATAATTAAGACTATGTCAATCCTATTCACAACTCTGATAACATTTTGGTTCTCAGTTTTCCTTACTTTTCATTTCCCTGCAGTTAATAATTATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGTTGCAGTGAGCAGAGAATTGCAGCACTGCACTCCAGCCTGGGCAACAGAACAAGACTGTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGAAATGTTGTCCCTAATAGTGAAAAAGTCAAAGCAAACCTCAAAAAGAATACAGCTGATTAATAAGTATTGATACATATACAAAACTGAGCCTTCAATTTCTGTCATTATATCTACCTGTAACTCTATCATATTTTAGAATGAGCATGCACTTTTGTAATCAGAATATAAGAACATTTATAAAGTAATAGGAGAAAAGTAACCTGAATCATATTAGGTTGGTGCAAAAGTAATTCCGGTTTTTTGTCATTACTTTTAATGGCAAAAGCCGCAATGACTTTTGCATCAACCTATTACTATTTTTTTTGCAGTTATTTATACGACCAATCGGATTTTTAAAAACAATTTTATTTAGTTGCTGGGAACAAGTCTGATTTTCTTTTCTCCTCAGCTATACAAGGTTGGCTTGTAGGGCAATCATCTTAGATATGTCTGAAGAGATTCGAATTTGAAAGAAGGAAAACCAGAAGTTTCATACTTCTAAAGGAAAACGTTTTCAGAAAATGAGTGAAAAGGAGTGACTACAAAGGAAGCATTCGCTTATCTCAAAGCAAATACTAAATTACAGATTCCTCTCAGCGCTCTACTGGTGAAAAAATTTAAAAATAAATAAATAAATTACAGACAGTAACATGCTTCCATTTCATCCCGACAGCTTCAGGATGGCGCAGTCTCCAATGGGACAAACCCAGGGAGGCGTGACTCGGCCACAGCGCGTTCTGGGAAGGCCGCTTAACCAATCAGCGCCTTGGTTTCCAGGGGTCAGGTCTGCATAAAAATGCTGCCCTTTCCGTTCCTATAGTGGTGTGATGCAGAAACGCCGCGACAGAATGGGGTTATCTACATTAACAGCGCGCGGCCTTCCAGGCTCCTAAATGGACTTTCACAAACACCCTCCATCAGGCCAGGCCCGCGGGTGTGACCCGGGCAGACACAGGCTGCCCCCACACTTCTGGACTCTGTGTCAGGGCGCACACGCTGACAGCATGGCTAACTTTCTGGGGGCCGGGGACATCTGGGAGAAGCAGAATGAAACAGAAGATCGATTCCCTAGGTCCTAGGAGATGAAACGCCACCTTTGCGGGTTCGCGAGTCCTTAGGATCAAAGCTGGGCTCCCCAGGGCCGGGGCCGCTCGCCCCACATCCTCATTCCAGTCCCCATCCCCACCCTATCCCCGACTCTGCCCCAGGCCCAGGCGGGAACCACGCACCGAAACGAGCGGGACGCGCAGGCGATCCCCTTGCAGCCGGTTGAAGGCGGGGAACGTGCTCCAGGCGAGGAACCCGTCGCTTTCGGGTCCGAGCAGGGCCACGAGCAGCACCTGGTGTTGGAAGCGCACGGTCGGCTGCTCCTCGTAGCTGCTCCGCTTCAGCCAAAACCCTGAGTTAAAGAGGGCGGTAGGGAGGCGGTTAGGGAGGCCGGCCCTGGCCGAGCGCGCCCGGGGAGCCTCGTGGCACAGCGGCCGGGGCAGGCTCACCGTGGCTCCGGAAGGCCACCAGCAGCGGCGGGATGTACGTGAGCGCAGCGGCCAGCAGCAGGAACAGCGCGGCTTTGGAGCAGAGCCCCGCGCGGTAACTGCGCTCGACCGGGTGAGAGAAGAGCTCATAGAGCGCCATGAGCACCGCTCGCAGGCACTCCGCGAGCCGGGGGACCAAGTTTGGCTTCTCCTGGTTGCCATCGCCTCGGTCTCCACGGCAACCGACGGCTCACAGAAAGGAGCCAATAGCAAGGCCGCACCGAAAGGAGCCAGTGGCGGGGGCGGGGTTAGCGGGCGTGGCGCTGCCGGGGACGGTCGGCCTAGCTTTTCGAGCTGTGTACGTTTGCGTAAAGGCTGGGCGGCGATAGAACGTTTCCGTGGACCAGAGTCGTGGCTGTTGTCTGTGTTAACATTTGTGTAAAATAAGATGCCCATAAAAGTTGACTTGAACACTGAGGAGGAAGAACTAAATATTTAAATTTCAACTGACATGGACACAAACAATGGTCACCAAGTCCCTAAACAGGTTGTGGGAGCCCCTTGAGGCGTTCATCCAGCGCTGTTTCGGAGAAATCTCTATTTCAGTCTACTCCTATACGTCAGTTATTGAAAAACAACAATCGCAAAAACAAGTTGACCTTTTTGTGTTCCTTGAGCCCAGTCGCAAAGGGCCCTCGTGACTGGGCCTCATGCTAGACAACATGTTACAAAAAGATCTAGGGTCCCAGACCACGCCAAAAAGCTTCATGAGACCTCTCCTCGTCTGTGCACTGACGAGTGGCCGGCTCTGGAGCCCAGGTCGTTGCTTCCCAGTCTGGAGGTGAATCCTCCATAGTCTGGTGAGTGTAAATATATATATATATATGTCTTTTTCCTTCTCCTCTTCCCATTGCAATTTGCTTATTATATCAATCTGCTTATTATATTAATTTGCTTATTATAATATCTGCATTGCCATTTACGTGGGATAAAGCTTGCTTACCCTTAAAGGTACTGTGTGTGTGCCTTTTCTTCTCCCCTAGCGCGTCTCCCGCACAGAACGAACACCTGCTTTTGTGTCATCTGTTAACCCCCAGTGTGGTTCCTACTGAAGTCCAGTCAGTCACAAGCCTGGCCGTGGTCCTGGACCTGGTCCTGGGCTGAGATCAAAGCCAGGTGCTTTTGCCCCCAGATTTTCTGTTGCTTCCACTATGCTCCCATGCAAGACAGACACGGAAACACAAATCCCCTGGCTCTTCCACGGATAGAGTGGAATTACTACAAAGCTCTGATGCACTTCGTTAACCCTGTGTTGGGTACAGCTCAGCCGCGAGTTTTACAGGAATATATGGTCCTCCCCAAAGATCACTGGCTTATTGCTTAATTGAATGCCTACACCCCCCCGCCACCACCCCCAACCAATATTTCTAACATGGTAGAAGGACTTTTTAAAAAAATCTATGGTCCACAGCCAATTTCTTCATCAAATGGCCCTGAATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAACCCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGATTACAGTGAGCGGAGATCACACATTGGACTCCAGCCTGGGTGGCAGCGAGACTCCATCTCAAACAACAACAACAACAACAAAAAGGTCCTGAGTGGCTGAGCACAGTGGCTCATGCCTGTAGGTCCAGCTACTCGGGAGGCCTGGGCAGGAGGAAGGCTTGAGCCCAGGAGGCTGCAGTGAGCCATGAATGCACTACTGCACTCCAGGCTGGGAGACAGAAGGAGACCTTGTCTCTAAAAAAATAAATACAAAATATTTAAATATAAGTAAATTTGTTAAAGGGTCAGTAAAATGACATTTAAGTGGAAAGACATGATAAGCTTTGTGATTTGGAAAAGTCACTCTAATGACAGCATGTCAGTAGT
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ATCTCTTTTTAGTAAACATTCAGTGTTCATATAATTAAGACTATGTCAATCCTATTCACAACTCTGATAACATTTTGGTTCTCAGTTTTCCTTACTTTTCATTTCCCTGCAGTTAATAATTATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGTTGCAGTGAGCAGAGAATTGCAGCACTGCACTCCAGCCTGGGCAACAGAACAAGACTGTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGAAATGTTGTCCCTAATAGTGAAAAAGTCAAAGCAAACCTCAAAAAGAATACAGCTGATTAATAAGTATTGATACATATACAAAACTGAGCCTTCAATTTCTGTCATTATATCTACCTGTAACTCTATCATATTTTAGAATGAGCATGCACTTTTGTAATCAGAATATAAGAACATTTATAAAGTAATAGGAGAAAAGTAACCTGAATCATATTAGGTTGGTGCAAAAGTAATTCCGGTTTTTTGTCATTACTTTTAATGGCAAAAGCCGCAATGACTTTTGCATCAACCTATTACTATTTTTTTTGCAGTTATTTATACGACCAATCGGATTTTTAAAAACAATTTTATTTAGTTGCTGGGAACAAGTCTGATTTTCTTTTCTCCTCAGCTATACAAGGTTGGCTTGTAGGGCAATCATCTTAGATATGTCTGAAGAGATTCGAATTTGAAAGAAGGAAAACCAGAAGTTTCATACTTCTAAAGGAAAACGTTTTCAGAAAATGAGTGAAAAGGAGTGACTACAAAGGAAGCATTCGCTTATCTCAAAGCAAATACTAAATTACAGATTCCTCTCAGCGCTCTACTGGTGAAAAAATTTAAAAATAAATAAATAAATTACAGACAGTAACATGCTTCCATTTCATCCCGACAGCTTCAGGATGGCGCAGTCTCCAATGGGACAAACCCAGGGAGGCGTGACTCGGCCACAGCGCGTTCTGGGAAGGCCGCTTAACCAATCAGCGCCTTGGTTTCCAGGGGTCAGGTCTGCATAAAAATGCTGCCCTTTCCGTTCCTATAGTGGTGTGATGCAGAAACGCCGCGACAGAATGGGGTTATCTACATTAACAGCGCGCGGCCTTCCAGGCTCCTAAATGGACTTTCACAAACACCCTCCATCAGGCCAGGCCCGCGGGTGTGACCCGGGCAGACACAGGCTGCCCCCACACTTCTGGACTCTGTGTCAGGGCGCACACGCTGACAGCATGGCTAACTTTCTGGGGGCCGGGGACATCTGGGAGAAGCAGAATGAAACAGAAGATCGATTCCCTAGGTCCTAGGAGATGAAACGCCACCTTTGCGGGTTCGCGAGTCCTTAGGATCAAAGCTGGGCTCCCCAGGGCCGGGGCCGCTCGCCCCACATCCTCATTCCAGTCCCCATCCCCACCCTATCCCCGACTCTGCCCCAGGCCCAGGCGGGAACCACGCACCGAAACGAGCGGGACGCGCAGGCGATCCCCTTGCAGCCGGTTGAAGGCGGGGAACGTGCTCCAGGCGAGGAACCCGTCGCTTTCGGGTCCGAGCAGGGCCACGAGCAGCACCTGGTGTTGGAAGCGCACGGTCGGCTGCTCCTCGTAGCTGCTCCGCTTCAGCCAAAACCCTGAGTTAAAGAGGGCGGTAGGGAGGCGGTTAGGGAGGCCGGCCCTGGCCGAGCGCGCCCGGGGAGCCTCGTGGCACAGCGGCCGGGGCAGGCTCACCGTGGCTCCGGAAGGTCACCAGCAGCGGCGGGATGTACGTGAGCGCAGCGGCCAGCAGCAGGAACAGCGCGGCTTTGGAGCAGAGCCCCGCGCGGTAACTGCGCTCGACCGGGTGAGAGAAGAGCTCATAGAGCGCCATGAGCACCGCTCGCAGGCACTCCGCGAGCCGGGGGACCAAGTTTGGCTTCTCCTGGTTGCCATCGCCTCGGTCTCCACGGCAACCGACGGCTCACAGAAAGGAGCCAATAGCAAGGCCGCACCGAAAGGAGCCAGTGGCGGGGGCGGGGTTAGCGGGCGTGGCGCTGCCGGGGACGGTCGGCCTAGCTTTTCGAGCTGTGTACGTTTGCGTAAAGGCTGGGCGGCGATAGAACGTTTCCGTGGACCAGAGTCGTGGCTGTTGTCTGTGTTAACATTTGTGTAAAATAAGATGCCCATAAAAGTTGACTTGAACACTGAGGAGGAAGAACTAAATATTTAAATTTCAACTGACATGGACACAAACAATGGTCACCAAGTCCCTAAACAGGTTGTGGGAGCCCCTTGAGGCGTTCATCCAGCGCTGTTTCGGAGAAATCTCTATTTCAGTCTACTCCTATACGTCAGTTATTGAAAAACAACAATCGCAAAAACAAGTTGACCTTTTTGTGTTCCTTGAGCCCAGTCGCAAAGGGCCCTCGTGACTGGGCCTCATGCTAGACAACATGTTACAAAAAGATCTAGGGTCCCAGACCACGCCAAAAAGCTTCATGAGACCTCTCCTCGTCTGTGCACTGACGAGTGGCCGGCTCTGGAGCCCAGGTCGTTGCTTCCCAGTCTGGAGGTGAATCCTCCATAGTCTGGTGAGTGTAAATATATATATATATATGTCTTTTTCCTTCTCCTCTTCCCATTGCAATTTGCTTATTATATCAATCTGCTTATTATATTAATTTGCTTATTATAATATCTGCATTGCCATTTACGTGGGATAAAGCTTGCTTACCCTTAAAGGTACTGTGTGTGTGCCTTTTCTTCTCCCCTAGCGCGTCTCCCGCACAGAACGAACACCTGCTTTTGTGTCATCTGTTAACCCCCAGTGTGGTTCCTACTGAAGTCCAGTCAGTCACAAGCCTGGCCGTGGTCCTGGACCTGGTCCTGGGCTGAGATCAAAGCCAGGTGCTTTTGCCCCCAGATTTTCTGTTGCTTCCACTATGCTCCCATGCAAGACAGACACGGAAACACAAATCCCCTGGCTCTTCCACGGATAGAGTGGAATTACTACAAAGCTCTGATGCACTTCGTTAACCCTGTGTTGGGTACAGCTCAGCCGCGAGTTTTACAGGAATATATGGTCCTCCCCAAAGATCACTGGCTTATTGCTTAATTGAATGCCTACACCCCCCCGCCACCACCCCCAACCAATATTTCTAACATGGTAGAAGGACTTTTTAAAAAAATCTATGGTCCACAGCCAATTTCTTCATCAAATGGCCCTGAATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAACCCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGATTACAGTGAGCGGAGATCACACATTGGACTCCAGCCTGGGTGGCAGCGAGACTCCATCTCAAACAACAACAACAACAACAAAAAGGTCCTGAGTGGCTGAGCACAGTGGCTCATGCCTGTAGGTCCAGCTACTCGGGAGGCCTGGGCAGGAGGAAGGCTTGAGCCCAGGAGGCTGCAGTGAGCCATGAATGCACTACTGCACTCCAGGCTGGGAGACAGAAGGAGACCTTGTCTCTAAAAAAATAAATACAAAATATTTAAATATAAGTAAATTTGTTAAAGGGTCAGTAAAATGACATTTAAGTGGAAAGACATGATAAGCTTTGTGATTTGGAAAAGTCACTCTAATGACAGCATGTCAGTAGT
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Task1_train_22918
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This variant lies on Chromosome 16 and affects the gene TMEM231 (transmembrane protein 231). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Joubert syndrome 20
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TATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGTTGCAGTGAGCAGAGAATTGCAGCACTGCACTCCAGCCTGGGCAACAGAACAAGACTGTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGAAATGTTGTCCCTAATAGTGAAAAAGTCAAAGCAAACCTCAAAAAGAATACAGCTGATTAATAAGTATTGATACATATACAAAACTGAGCCTTCAATTTCTGTCATTATATCTACCTGTAACTCTATCATATTTTAGAATGAGCATGCACTTTTGTAATCAGAATATAAGAACATTTATAAAGTAATAGGAGAAAAGTAACCTGAATCATATTAGGTTGGTGCAAAAGTAATTCCGGTTTTTTGTCATTACTTTTAATGGCAAAAGCCGCAATGACTTTTGCATCAACCTATTACTATTTTTTTTGCAGTTATTTATACGACCAATCGGATTTTTAAAAACAATTTTATTTAGTTGCTGGGAACAAGTCTGATTTTCTTTTCTCCTCAGCTATACAAGGTTGGCTTGTAGGGCAATCATCTTAGATATGTCTGAAGAGATTCGAATTTGAAAGAAGGAAAACCAGAAGTTTCATACTTCTAAAGGAAAACGTTTTCAGAAAATGAGTGAAAAGGAGTGACTACAAAGGAAGCATTCGCTTATCTCAAAGCAAATACTAAATTACAGATTCCTCTCAGCGCTCTACTGGTGAAAAAATTTAAAAATAAATAAATAAATTACAGACAGTAACATGCTTCCATTTCATCCCGACAGCTTCAGGATGGCGCAGTCTCCAATGGGACAAACCCAGGGAGGCGTGACTCGGCCACAGCGCGTTCTGGGAAGGCCGCTTAACCAATCAGCGCCTTGGTTTCCAGGGGTCAGGTCTGCATAAAAATGCTGCCCTTTCCGTTCCTATAGTGGTGTGATGCAGAAACGCCGCGACAGAATGGGGTTATCTACATTAACAGCGCGCGGCCTTCCAGGCTCCTAAATGGACTTTCACAAACACCCTCCATCAGGCCAGGCCCGCGGGTGTGACCCGGGCAGACACAGGCTGCCCCCACACTTCTGGACTCTGTGTCAGGGCGCACACGCTGACAGCATGGCTAACTTTCTGGGGGCCGGGGACATCTGGGAGAAGCAGAATGAAACAGAAGATCGATTCCCTAGGTCCTAGGAGATGAAACGCCACCTTTGCGGGTTCGCGAGTCCTTAGGATCAAAGCTGGGCTCCCCAGGGCCGGGGCCGCTCGCCCCACATCCTCATTCCAGTCCCCATCCCCACCCTATCCCCGACTCTGCCCCAGGCCCAGGCGGGAACCACGCACCGAAACGAGCGGGACGCGCAGGCGATCCCCTTGCAGCCGGTTGAAGGCGGGGAACGTGCTCCAGGCGAGGAACCCGTCGCTTTCGGGTCCGAGCAGGGCCACGAGCAGCACCTGGTGTTGGAAGCGCACGGTCGGCTGCTCCTCGTAGCTGCTCCGCTTCAGCCAAAACCCTGAGTTAAAGAGGGCGGTAGGGAGGCGGTTAGGGAGGCCGGCCCTGGCCGAGCGCGCCCGGGGAGCCTCGTGGCACAGCGGCCGGGGCAGGCTCACCGTGGCTCCGGAAGGCCACCAGCAGCGGCGGGATGTACGTGAGCGCAGCGGCCAGCAGCAGGAACAGCGCGGCTTTGGAGCAGAGCCCCGCGCGGTAACTGCGCTCGACCGGGTGAGAGAAGAGCTCATAGAGCGCCATGAGCACCGCTCGCAGGCACTCCGCGAGCCGGGGGACCAAGTTTGGCTTCTCCTGGTTGCCATCGCCTCGGTCTCCACGGCAACCGACGGCTCACAGAAAGGAGCCAATAGCAAGGCCGCACCGAAAGGAGCCAGTGGCGGGGGCGGGGTTAGCGGGCGTGGCGCTGCCGGGGACGGTCGGCCTAGCTTTTCGAGCTGTGTACGTTTGCGTAAAGGCTGGGCGGCGATAGAACGTTTCCGTGGACCAGAGTCGTGGCTGTTGTCTGTGTTAACATTTGTGTAAAATAAGATGCCCATAAAAGTTGACTTGAACACTGAGGAGGAAGAACTAAATATTTAAATTTCAACTGACATGGACACAAACAATGGTCACCAAGTCCCTAAACAGGTTGTGGGAGCCCCTTGAGGCGTTCATCCAGCGCTGTTTCGGAGAAATCTCTATTTCAGTCTACTCCTATACGTCAGTTATTGAAAAACAACAATCGCAAAAACAAGTTGACCTTTTTGTGTTCCTTGAGCCCAGTCGCAAAGGGCCCTCGTGACTGGGCCTCATGCTAGACAACATGTTACAAAAAGATCTAGGGTCCCAGACCACGCCAAAAAGCTTCATGAGACCTCTCCTCGTCTGTGCACTGACGAGTGGCCGGCTCTGGAGCCCAGGTCGTTGCTTCCCAGTCTGGAGGTGAATCCTCCATAGTCTGGTGAGTGTAAATATATATATATATATGTCTTTTTCCTTCTCCTCTTCCCATTGCAATTTGCTTATTATATCAATCTGCTTATTATATTAATTTGCTTATTATAATATCTGCATTGCCATTTACGTGGGATAAAGCTTGCTTACCCTTAAAGGTACTGTGTGTGTGCCTTTTCTTCTCCCCTAGCGCGTCTCCCGCACAGAACGAACACCTGCTTTTGTGTCATCTGTTAACCCCCAGTGTGGTTCCTACTGAAGTCCAGTCAGTCACAAGCCTGGCCGTGGTCCTGGACCTGGTCCTGGGCTGAGATCAAAGCCAGGTGCTTTTGCCCCCAGATTTTCTGTTGCTTCCACTATGCTCCCATGCAAGACAGACACGGAAACACAAATCCCCTGGCTCTTCCACGGATAGAGTGGAATTACTACAAAGCTCTGATGCACTTCGTTAACCCTGTGTTGGGTACAGCTCAGCCGCGAGTTTTACAGGAATATATGGTCCTCCCCAAAGATCACTGGCTTATTGCTTAATTGAATGCCTACACCCCCCCGCCACCACCCCCAACCAATATTTCTAACATGGTAGAAGGACTTTTTAAAAAAATCTATGGTCCACAGCCAATTTCTTCATCAAATGGCCCTGAATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAACCCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGATTACAGTGAGCGGAGATCACACATTGGACTCCAGCCTGGGTGGCAGCGAGACTCCATCTCAAACAACAACAACAACAACAAAAAGGTCCTGAGTGGCTGAGCACAGTGGCTCATGCCTGTAGGTCCAGCTACTCGGGAGGCCTGGGCAGGAGGAAGGCTTGAGCCCAGGAGGCTGCAGTGAGCCATGAATGCACTACTGCACTCCAGGCTGGGAGACAGAAGGAGACCTTGTCTCTAAAAAAATAAATACAAAATATTTAAATATAAGTAAATTTGTTAAAGGGTCAGTAAAATGACATTTAAGTGGAAAGACATGATAAGCTTTGTGATTTGGAAAAGTCACTCTAATGACAGCATGTCAGTAGTGTAAACCAAAATGTATCTGAGACAAGTCTCAATCAACGTAGAAATTTATTTTGCCAAGGTTAAGGACATGCCTGTGACACAGCCTCAGGAGGTCCTGATGACATACGCCCAAGGTGGATA
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TATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGTTGCAGTGAGCAGAGAATTGCAGCACTGCACTCCAGCCTGGGCAACAGAACAAGACTGTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGAAATGTTGTCCCTAATAGTGAAAAAGTCAAAGCAAACCTCAAAAAGAATACAGCTGATTAATAAGTATTGATACATATACAAAACTGAGCCTTCAATTTCTGTCATTATATCTACCTGTAACTCTATCATATTTTAGAATGAGCATGCACTTTTGTAATCAGAATATAAGAACATTTATAAAGTAATAGGAGAAAAGTAACCTGAATCATATTAGGTTGGTGCAAAAGTAATTCCGGTTTTTTGTCATTACTTTTAATGGCAAAAGCCGCAATGACTTTTGCATCAACCTATTACTATTTTTTTTGCAGTTATTTATACGACCAATCGGATTTTTAAAAACAATTTTATTTAGTTGCTGGGAACAAGTCTGATTTTCTTTTCTCCTCAGCTATACAAGGTTGGCTTGTAGGGCAATCATCTTAGATATGTCTGAAGAGATTCGAATTTGAAAGAAGGAAAACCAGAAGTTTCATACTTCTAAAGGAAAACGTTTTCAGAAAATGAGTGAAAAGGAGTGACTACAAAGGAAGCATTCGCTTATCTCAAAGCAAATACTAAATTACAGATTCCTCTCAGCGCTCTACTGGTGAAAAAATTTAAAAATAAATAAATAAATTACAGACAGTAACATGCTTCCATTTCATCCCGACAGCTTCAGGATGGCGCAGTCTCCAATGGGACAAACCCAGGGAGGCGTGACTCGGCCACAGCGCGTTCTGGGAAGGCCGCTTAACCAATCAGCGCCTTGGTTTCCAGGGGTCAGGTCTGCATAAAAATGCTGCCCTTTCCGTTCCTATAGTGGTGTGATGCAGAAACGCCGCGACAGAATGGGGTTATCTACATTAACAGCGCGCGGCCTTCCAGGCTCCTAAATGGACTTTCACAAACACCCTCCATCAGGCCAGGCCCGCGGGTGTGACCCGGGCAGACACAGGCTGCCCCCACACTTCTGGACTCTGTGTCAGGGCGCACACGCTGACAGCATGGCTAACTTTCTGGGGGCCGGGGACATCTGGGAGAAGCAGAATGAAACAGAAGATCGATTCCCTAGGTCCTAGGAGATGAAACGCCACCTTTGCGGGTTCGCGAGTCCTTAGGATCAAAGCTGGGCTCCCCAGGGCCGGGGCCGCTCGCCCCACATCCTCATTCCAGTCCCCATCCCCACCCTATCCCCGACTCTGCCCCAGGCCCAGGCGGGAACCACGCACCGAAACGAGCGGGACGCGCAGGCGATCCCCTTGCAGCCGGTTGAAGGCGGGGAACGTGCTCCAGGCGAGGAACCCGTCGCTTTCGGGTCCGAGCAGGGCCACGAGCAGCACCTGGTGTTGGAAGCGCACGGTCGGCTGCTCCTCGTAGCTGCTCCGCTTCAGCCAAAACCCTGAGTTAAAGAGGGCGGTAGGGAGGCGGTTAGGGAGGCCGGCCCTGGCCGAGCGCGCCCGGGGAGCCTCGTGGCACAGCGGCCGGGGCAGGCTCACCGTGGCTCCGGAAGGCCACCAGCAGCGGCGGGATGTACGTGAGCGCAGCGGCCAGCAGCAGGAACAGCGCGGCTTTGGAGCAGAGCCCCGCGCGGTAACTGCGCTCGACCGGGTGAGAGAAGAGCTCATAGAGCGTCATGAGCACCGCTCGCAGGCACTCCGCGAGCCGGGGGACCAAGTTTGGCTTCTCCTGGTTGCCATCGCCTCGGTCTCCACGGCAACCGACGGCTCACAGAAAGGAGCCAATAGCAAGGCCGCACCGAAAGGAGCCAGTGGCGGGGGCGGGGTTAGCGGGCGTGGCGCTGCCGGGGACGGTCGGCCTAGCTTTTCGAGCTGTGTACGTTTGCGTAAAGGCTGGGCGGCGATAGAACGTTTCCGTGGACCAGAGTCGTGGCTGTTGTCTGTGTTAACATTTGTGTAAAATAAGATGCCCATAAAAGTTGACTTGAACACTGAGGAGGAAGAACTAAATATTTAAATTTCAACTGACATGGACACAAACAATGGTCACCAAGTCCCTAAACAGGTTGTGGGAGCCCCTTGAGGCGTTCATCCAGCGCTGTTTCGGAGAAATCTCTATTTCAGTCTACTCCTATACGTCAGTTATTGAAAAACAACAATCGCAAAAACAAGTTGACCTTTTTGTGTTCCTTGAGCCCAGTCGCAAAGGGCCCTCGTGACTGGGCCTCATGCTAGACAACATGTTACAAAAAGATCTAGGGTCCCAGACCACGCCAAAAAGCTTCATGAGACCTCTCCTCGTCTGTGCACTGACGAGTGGCCGGCTCTGGAGCCCAGGTCGTTGCTTCCCAGTCTGGAGGTGAATCCTCCATAGTCTGGTGAGTGTAAATATATATATATATATGTCTTTTTCCTTCTCCTCTTCCCATTGCAATTTGCTTATTATATCAATCTGCTTATTATATTAATTTGCTTATTATAATATCTGCATTGCCATTTACGTGGGATAAAGCTTGCTTACCCTTAAAGGTACTGTGTGTGTGCCTTTTCTTCTCCCCTAGCGCGTCTCCCGCACAGAACGAACACCTGCTTTTGTGTCATCTGTTAACCCCCAGTGTGGTTCCTACTGAAGTCCAGTCAGTCACAAGCCTGGCCGTGGTCCTGGACCTGGTCCTGGGCTGAGATCAAAGCCAGGTGCTTTTGCCCCCAGATTTTCTGTTGCTTCCACTATGCTCCCATGCAAGACAGACACGGAAACACAAATCCCCTGGCTCTTCCACGGATAGAGTGGAATTACTACAAAGCTCTGATGCACTTCGTTAACCCTGTGTTGGGTACAGCTCAGCCGCGAGTTTTACAGGAATATATGGTCCTCCCCAAAGATCACTGGCTTATTGCTTAATTGAATGCCTACACCCCCCCGCCACCACCCCCAACCAATATTTCTAACATGGTAGAAGGACTTTTTAAAAAAATCTATGGTCCACAGCCAATTTCTTCATCAAATGGCCCTGAATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAACCCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGATTACAGTGAGCGGAGATCACACATTGGACTCCAGCCTGGGTGGCAGCGAGACTCCATCTCAAACAACAACAACAACAACAAAAAGGTCCTGAGTGGCTGAGCACAGTGGCTCATGCCTGTAGGTCCAGCTACTCGGGAGGCCTGGGCAGGAGGAAGGCTTGAGCCCAGGAGGCTGCAGTGAGCCATGAATGCACTACTGCACTCCAGGCTGGGAGACAGAAGGAGACCTTGTCTCTAAAAAAATAAATACAAAATATTTAAATATAAGTAAATTTGTTAAAGGGTCAGTAAAATGACATTTAAGTGGAAAGACATGATAAGCTTTGTGATTTGGAAAAGTCACTCTAATGACAGCATGTCAGTAGTGTAAACCAAAATGTATCTGAGACAAGTCTCAATCAACGTAGAAATTTATTTTGCCAAGGTTAAGGACATGCCTGTGACACAGCCTCAGGAGGTCCTGATGACATACGCCCAAGGTGGATA
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Task1_train_22919
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This sequence variant lies in TMEM231 (transmembrane protein 231) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Meckel syndrome, type 11
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TATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGTTGCAGTGAGCAGAGAATTGCAGCACTGCACTCCAGCCTGGGCAACAGAACAAGACTGTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGAAATGTTGTCCCTAATAGTGAAAAAGTCAAAGCAAACCTCAAAAAGAATACAGCTGATTAATAAGTATTGATACATATACAAAACTGAGCCTTCAATTTCTGTCATTATATCTACCTGTAACTCTATCATATTTTAGAATGAGCATGCACTTTTGTAATCAGAATATAAGAACATTTATAAAGTAATAGGAGAAAAGTAACCTGAATCATATTAGGTTGGTGCAAAAGTAATTCCGGTTTTTTGTCATTACTTTTAATGGCAAAAGCCGCAATGACTTTTGCATCAACCTATTACTATTTTTTTTGCAGTTATTTATACGACCAATCGGATTTTTAAAAACAATTTTATTTAGTTGCTGGGAACAAGTCTGATTTTCTTTTCTCCTCAGCTATACAAGGTTGGCTTGTAGGGCAATCATCTTAGATATGTCTGAAGAGATTCGAATTTGAAAGAAGGAAAACCAGAAGTTTCATACTTCTAAAGGAAAACGTTTTCAGAAAATGAGTGAAAAGGAGTGACTACAAAGGAAGCATTCGCTTATCTCAAAGCAAATACTAAATTACAGATTCCTCTCAGCGCTCTACTGGTGAAAAAATTTAAAAATAAATAAATAAATTACAGACAGTAACATGCTTCCATTTCATCCCGACAGCTTCAGGATGGCGCAGTCTCCAATGGGACAAACCCAGGGAGGCGTGACTCGGCCACAGCGCGTTCTGGGAAGGCCGCTTAACCAATCAGCGCCTTGGTTTCCAGGGGTCAGGTCTGCATAAAAATGCTGCCCTTTCCGTTCCTATAGTGGTGTGATGCAGAAACGCCGCGACAGAATGGGGTTATCTACATTAACAGCGCGCGGCCTTCCAGGCTCCTAAATGGACTTTCACAAACACCCTCCATCAGGCCAGGCCCGCGGGTGTGACCCGGGCAGACACAGGCTGCCCCCACACTTCTGGACTCTGTGTCAGGGCGCACACGCTGACAGCATGGCTAACTTTCTGGGGGCCGGGGACATCTGGGAGAAGCAGAATGAAACAGAAGATCGATTCCCTAGGTCCTAGGAGATGAAACGCCACCTTTGCGGGTTCGCGAGTCCTTAGGATCAAAGCTGGGCTCCCCAGGGCCGGGGCCGCTCGCCCCACATCCTCATTCCAGTCCCCATCCCCACCCTATCCCCGACTCTGCCCCAGGCCCAGGCGGGAACCACGCACCGAAACGAGCGGGACGCGCAGGCGATCCCCTTGCAGCCGGTTGAAGGCGGGGAACGTGCTCCAGGCGAGGAACCCGTCGCTTTCGGGTCCGAGCAGGGCCACGAGCAGCACCTGGTGTTGGAAGCGCACGGTCGGCTGCTCCTCGTAGCTGCTCCGCTTCAGCCAAAACCCTGAGTTAAAGAGGGCGGTAGGGAGGCGGTTAGGGAGGCCGGCCCTGGCCGAGCGCGCCCGGGGAGCCTCGTGGCACAGCGGCCGGGGCAGGCTCACCGTGGCTCCGGAAGGCCACCAGCAGCGGCGGGATGTACGTGAGCGCAGCGGCCAGCAGCAGGAACAGCGCGGCTTTGGAGCAGAGCCCCGCGCGGTAACTGCGCTCGACCGGGTGAGAGAAGAGCTCATAGAGCGCCATGAGCACCGCTCGCAGGCACTCCGCGAGCCGGGGGACCAAGTTTGGCTTCTCCTGGTTGCCATCGCCTCGGTCTCCACGGCAACCGACGGCTCACAGAAAGGAGCCAATAGCAAGGCCGCACCGAAAGGAGCCAGTGGCGGGGGCGGGGTTAGCGGGCGTGGCGCTGCCGGGGACGGTCGGCCTAGCTTTTCGAGCTGTGTACGTTTGCGTAAAGGCTGGGCGGCGATAGAACGTTTCCGTGGACCAGAGTCGTGGCTGTTGTCTGTGTTAACATTTGTGTAAAATAAGATGCCCATAAAAGTTGACTTGAACACTGAGGAGGAAGAACTAAATATTTAAATTTCAACTGACATGGACACAAACAATGGTCACCAAGTCCCTAAACAGGTTGTGGGAGCCCCTTGAGGCGTTCATCCAGCGCTGTTTCGGAGAAATCTCTATTTCAGTCTACTCCTATACGTCAGTTATTGAAAAACAACAATCGCAAAAACAAGTTGACCTTTTTGTGTTCCTTGAGCCCAGTCGCAAAGGGCCCTCGTGACTGGGCCTCATGCTAGACAACATGTTACAAAAAGATCTAGGGTCCCAGACCACGCCAAAAAGCTTCATGAGACCTCTCCTCGTCTGTGCACTGACGAGTGGCCGGCTCTGGAGCCCAGGTCGTTGCTTCCCAGTCTGGAGGTGAATCCTCCATAGTCTGGTGAGTGTAAATATATATATATATATGTCTTTTTCCTTCTCCTCTTCCCATTGCAATTTGCTTATTATATCAATCTGCTTATTATATTAATTTGCTTATTATAATATCTGCATTGCCATTTACGTGGGATAAAGCTTGCTTACCCTTAAAGGTACTGTGTGTGTGCCTTTTCTTCTCCCCTAGCGCGTCTCCCGCACAGAACGAACACCTGCTTTTGTGTCATCTGTTAACCCCCAGTGTGGTTCCTACTGAAGTCCAGTCAGTCACAAGCCTGGCCGTGGTCCTGGACCTGGTCCTGGGCTGAGATCAAAGCCAGGTGCTTTTGCCCCCAGATTTTCTGTTGCTTCCACTATGCTCCCATGCAAGACAGACACGGAAACACAAATCCCCTGGCTCTTCCACGGATAGAGTGGAATTACTACAAAGCTCTGATGCACTTCGTTAACCCTGTGTTGGGTACAGCTCAGCCGCGAGTTTTACAGGAATATATGGTCCTCCCCAAAGATCACTGGCTTATTGCTTAATTGAATGCCTACACCCCCCCGCCACCACCCCCAACCAATATTTCTAACATGGTAGAAGGACTTTTTAAAAAAATCTATGGTCCACAGCCAATTTCTTCATCAAATGGCCCTGAATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAACCCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGATTACAGTGAGCGGAGATCACACATTGGACTCCAGCCTGGGTGGCAGCGAGACTCCATCTCAAACAACAACAACAACAACAAAAAGGTCCTGAGTGGCTGAGCACAGTGGCTCATGCCTGTAGGTCCAGCTACTCGGGAGGCCTGGGCAGGAGGAAGGCTTGAGCCCAGGAGGCTGCAGTGAGCCATGAATGCACTACTGCACTCCAGGCTGGGAGACAGAAGGAGACCTTGTCTCTAAAAAAATAAATACAAAATATTTAAATATAAGTAAATTTGTTAAAGGGTCAGTAAAATGACATTTAAGTGGAAAGACATGATAAGCTTTGTGATTTGGAAAAGTCACTCTAATGACAGCATGTCAGTAGTGTAAACCAAAATGTATCTGAGACAAGTCTCAATCAACGTAGAAATTTATTTTGCCAAGGTTAAGGACATGCCTGTGACACAGCCTCAGGAGGTCCTGATGACATACGCCCAAGGTGGATA
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TATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGTTGCAGTGAGCAGAGAATTGCAGCACTGCACTCCAGCCTGGGCAACAGAACAAGACTGTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGAAATGTTGTCCCTAATAGTGAAAAAGTCAAAGCAAACCTCAAAAAGAATACAGCTGATTAATAAGTATTGATACATATACAAAACTGAGCCTTCAATTTCTGTCATTATATCTACCTGTAACTCTATCATATTTTAGAATGAGCATGCACTTTTGTAATCAGAATATAAGAACATTTATAAAGTAATAGGAGAAAAGTAACCTGAATCATATTAGGTTGGTGCAAAAGTAATTCCGGTTTTTTGTCATTACTTTTAATGGCAAAAGCCGCAATGACTTTTGCATCAACCTATTACTATTTTTTTTGCAGTTATTTATACGACCAATCGGATTTTTAAAAACAATTTTATTTAGTTGCTGGGAACAAGTCTGATTTTCTTTTCTCCTCAGCTATACAAGGTTGGCTTGTAGGGCAATCATCTTAGATATGTCTGAAGAGATTCGAATTTGAAAGAAGGAAAACCAGAAGTTTCATACTTCTAAAGGAAAACGTTTTCAGAAAATGAGTGAAAAGGAGTGACTACAAAGGAAGCATTCGCTTATCTCAAAGCAAATACTAAATTACAGATTCCTCTCAGCGCTCTACTGGTGAAAAAATTTAAAAATAAATAAATAAATTACAGACAGTAACATGCTTCCATTTCATCCCGACAGCTTCAGGATGGCGCAGTCTCCAATGGGACAAACCCAGGGAGGCGTGACTCGGCCACAGCGCGTTCTGGGAAGGCCGCTTAACCAATCAGCGCCTTGGTTTCCAGGGGTCAGGTCTGCATAAAAATGCTGCCCTTTCCGTTCCTATAGTGGTGTGATGCAGAAACGCCGCGACAGAATGGGGTTATCTACATTAACAGCGCGCGGCCTTCCAGGCTCCTAAATGGACTTTCACAAACACCCTCCATCAGGCCAGGCCCGCGGGTGTGACCCGGGCAGACACAGGCTGCCCCCACACTTCTGGACTCTGTGTCAGGGCGCACACGCTGACAGCATGGCTAACTTTCTGGGGGCCGGGGACATCTGGGAGAAGCAGAATGAAACAGAAGATCGATTCCCTAGGTCCTAGGAGATGAAACGCCACCTTTGCGGGTTCGCGAGTCCTTAGGATCAAAGCTGGGCTCCCCAGGGCCGGGGCCGCTCGCCCCACATCCTCATTCCAGTCCCCATCCCCACCCTATCCCCGACTCTGCCCCAGGCCCAGGCGGGAACCACGCACCGAAACGAGCGGGACGCGCAGGCGATCCCCTTGCAGCCGGTTGAAGGCGGGGAACGTGCTCCAGGCGAGGAACCCGTCGCTTTCGGGTCCGAGCAGGGCCACGAGCAGCACCTGGTGTTGGAAGCGCACGGTCGGCTGCTCCTCGTAGCTGCTCCGCTTCAGCCAAAACCCTGAGTTAAAGAGGGCGGTAGGGAGGCGGTTAGGGAGGCCGGCCCTGGCCGAGCGCGCCCGGGGAGCCTCGTGGCACAGCGGCCGGGGCAGGCTCACCGTGGCTCCGGAAGGCCACCAGCAGCGGCGGGATGTACGTGAGCGCAGCGGCCAGCAGCAGGAACAGCGCGGCTTTGGAGCAGAGCCCCGCGCGGTAACTGCGCTCGACCGGGTGAGAGAAGAGCTCATAGAGCGTCATGAGCACCGCTCGCAGGCACTCCGCGAGCCGGGGGACCAAGTTTGGCTTCTCCTGGTTGCCATCGCCTCGGTCTCCACGGCAACCGACGGCTCACAGAAAGGAGCCAATAGCAAGGCCGCACCGAAAGGAGCCAGTGGCGGGGGCGGGGTTAGCGGGCGTGGCGCTGCCGGGGACGGTCGGCCTAGCTTTTCGAGCTGTGTACGTTTGCGTAAAGGCTGGGCGGCGATAGAACGTTTCCGTGGACCAGAGTCGTGGCTGTTGTCTGTGTTAACATTTGTGTAAAATAAGATGCCCATAAAAGTTGACTTGAACACTGAGGAGGAAGAACTAAATATTTAAATTTCAACTGACATGGACACAAACAATGGTCACCAAGTCCCTAAACAGGTTGTGGGAGCCCCTTGAGGCGTTCATCCAGCGCTGTTTCGGAGAAATCTCTATTTCAGTCTACTCCTATACGTCAGTTATTGAAAAACAACAATCGCAAAAACAAGTTGACCTTTTTGTGTTCCTTGAGCCCAGTCGCAAAGGGCCCTCGTGACTGGGCCTCATGCTAGACAACATGTTACAAAAAGATCTAGGGTCCCAGACCACGCCAAAAAGCTTCATGAGACCTCTCCTCGTCTGTGCACTGACGAGTGGCCGGCTCTGGAGCCCAGGTCGTTGCTTCCCAGTCTGGAGGTGAATCCTCCATAGTCTGGTGAGTGTAAATATATATATATATATGTCTTTTTCCTTCTCCTCTTCCCATTGCAATTTGCTTATTATATCAATCTGCTTATTATATTAATTTGCTTATTATAATATCTGCATTGCCATTTACGTGGGATAAAGCTTGCTTACCCTTAAAGGTACTGTGTGTGTGCCTTTTCTTCTCCCCTAGCGCGTCTCCCGCACAGAACGAACACCTGCTTTTGTGTCATCTGTTAACCCCCAGTGTGGTTCCTACTGAAGTCCAGTCAGTCACAAGCCTGGCCGTGGTCCTGGACCTGGTCCTGGGCTGAGATCAAAGCCAGGTGCTTTTGCCCCCAGATTTTCTGTTGCTTCCACTATGCTCCCATGCAAGACAGACACGGAAACACAAATCCCCTGGCTCTTCCACGGATAGAGTGGAATTACTACAAAGCTCTGATGCACTTCGTTAACCCTGTGTTGGGTACAGCTCAGCCGCGAGTTTTACAGGAATATATGGTCCTCCCCAAAGATCACTGGCTTATTGCTTAATTGAATGCCTACACCCCCCCGCCACCACCCCCAACCAATATTTCTAACATGGTAGAAGGACTTTTTAAAAAAATCTATGGTCCACAGCCAATTTCTTCATCAAATGGCCCTGAATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAACCCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGATTACAGTGAGCGGAGATCACACATTGGACTCCAGCCTGGGTGGCAGCGAGACTCCATCTCAAACAACAACAACAACAACAAAAAGGTCCTGAGTGGCTGAGCACAGTGGCTCATGCCTGTAGGTCCAGCTACTCGGGAGGCCTGGGCAGGAGGAAGGCTTGAGCCCAGGAGGCTGCAGTGAGCCATGAATGCACTACTGCACTCCAGGCTGGGAGACAGAAGGAGACCTTGTCTCTAAAAAAATAAATACAAAATATTTAAATATAAGTAAATTTGTTAAAGGGTCAGTAAAATGACATTTAAGTGGAAAGACATGATAAGCTTTGTGATTTGGAAAAGTCACTCTAATGACAGCATGTCAGTAGTGTAAACCAAAATGTATCTGAGACAAGTCTCAATCAACGTAGAAATTTATTTTGCCAAGGTTAAGGACATGCCTGTGACACAGCCTCAGGAGGTCCTGATGACATACGCCCAAGGTGGATA
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Task1_train_22920
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A variant was discovered in gene KARS1 (lysyl-tRNA synthetase 1), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS
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TATCTATTTTCTTTACAAGTGTAGATGCTTGATGAAGTTTGAGACCACGCCTGTTTCTGCTCACCCCAGCAAAGCAGTTAGCAAATTGTGAGCCTGCAACTGTTTGAAGAGAAATGGGGACTTTATGACCCTTCTGTCCCTTCTAGCTTTCACACTCGGTCATTTTTCCTGCCAACCCTCACATACAAGTTGTCTACTGCTGCCTCAGTTCCTTTCTATCCCTAGCCTCCTTAAGACCAGACAGCTGGATTCTGCCTCCATCCTTCCATTAAACCACTTTGTAAAGTCACTCATATCATCAATCCTTGTAGCCTTTTTCAATTGTCTGCATTGACAGTATTACCTGAAACCTAGTCCCTTACCTGTCCTTGACCTTCCACCACCTCCCTTGGTGAGATGATTATCTCCCGTTTTAGTTACCACTCCCTTTCTGAGGATGTGCCATTTGAAAATGTTTCTTCTGAAATGCCACCTGGTCACGTACTGCTTAAACACCAGCAGGGGTAGGGATGTTCCTCACTGCCTGAGGTAGTTCATTTAGGCAATTCTGAATGCTTAGGTTGTTTTACCAGCTACAGAAACAGAAACCTGCTCTGTGAAAGGAGACTGGCTGCTCCCAAACTGGGATGCTTGCAGAGGTTTTGCTGAGGTGCAGAAGGTAAAGTCTTCCGTCATGTGAAAAAAGGTCTTCCCAGCTGTCTCCGTGTCAGGAAAGAGGGGCTCCACTTTGATGGCAGGCTCTCAGCCACACCCTTGTCACGTTCTTAGCTCTATTGAATGGAGCTGAAAATAATGAGAAAACTTCAGATTCATTATTCAACATTCTGCTATTTCCATCTGGCTAACAGGCATGTCAAATTTAACATGTCCAAAACCAAACTTCCAACCTTCCCTCTGAAACCTGAACTTCCTGTTTTTCCCATCTCAGTAGAGGGCAACTTTCTTCCAGCTGTTCAGGTCCAAAACCTTGAAATCATTTTTGGCTTCTTTTTCTCACAACCCACATTCCCATCACCAAATTCTTCTGCCCTCAGGAACACAGGCAAAGTACAACCACTTGTAACCATTTCCACTGGTCCATGCACGTCGCAGCCACTGTCTCCTCAGCCCATGGTGAATGCTCAGCTGGTCTCCCTTCGTTGCTCTTGTCCTCCACACAGAAACTAGAATAATCCTTGAAAAACACTCCTCTGCTCAAAATCCTTCCATGGTATCTCATTTCCCTCAGAAAACACATACTTTTCTGAGTGGCTTCCAGGGGCCTGCGTGATCTGGCCCCTCACTGACCTTCACTCATCCCTGTCCAGTCACACCAGACCCTCTGCCATTCCTCAAAAACATGGTCCTTTAGTCTGAATGGCCTTTTCCCACAGACCTCCCCAGCTCAGTCTCCAGACCTCTACTGAAATGCCCAGCAGAGGTCTTCCTGACCACCATAAAGTAGCACTGTTCCTTCCACCTCTAAAATAGCACCTCTGTCCCCTTACCCTGCTCCATTTTTCTTCTTAGTATATACCACCACCAGAAAGAACATGTATTTACTTGTTTTTTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCTTATTTGGTAACAGGATTAAAAAGAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAAAGCAGCACACAAGAATTCCCTTGCAGACCTTGATCTTTCGCAGAAATGCAAAGACGCCTGAGTTATACAACTTGCAATTATTATTTTCTAGACAGAAGTGCCAACTGTTGTGCTTTCCAGTGTATCAGTGGTTGCTACATTCTCCTTCTTGTCTTCGGGTTTCATGGCAGGAAACAGAAGTACTTCCTGTGGGAGATAAGAATGTACCTTGAAGCTGAGAAGCACTCTCAACATTTTTTCACAGCTATCTACCCATTCCTCTTGCCTCTGTTGTTACCACCAAAATCCAGAGATTAGTATATTCCAGCTGAAAAGGCTCATGTGTTCTTTTATTTCAACTCAGACCCTCTCAAGTTACAGATGACAAAGAACAAATGCATAGCACTGCCTAGGGCACTATGTCAAAAGGATGAATAGACGCATTTCTATGAAAATTTGATTTCCTCATCTATAAAAATGGGAAACAACAGTTTCTACACCTCATAAGGCTGACTTAATTAGCTGAAATAATGCACGGAGACTTCCCTGGATCCTCAAGAAATGCAAACAATTAGTATTCCTTCTGCCCCTGGTAGGAAAAAACCCAAATCCTTTAAGGTCAGAGGCTCTGGCCCTCCTGTGAGTGGCATGGAACTCCTCTGCCTGCTCCTCTTCCCAGCCCAAAGCCCTTCCTTAATTTTATCCTCCAGGCCCACCATGCCCTGGCTCCAACACAATGCAGCTTCCTCAGGAAGTGTGCTCTGTGGAGGGTTGCTACGTACCTTGATGTTGTTGGAGTCCGTGAGAAACATGGCGACTCGATCAATGCCCATGCCCCAGCCAGCTGTGGGGGGCAGCCCATATTCCAGGGCAGTACAGAAGTTTTCATCTATGAACATGGCCTCATCATCACCTGCAGCCTTGGCCTAGAAGAGGAAAGAGAACCAAAAGGTGACCTTCTTCTAAGATATCTCAGTGTGTGAGTGAACATGTTACCAGGCTCCGAGGTGGGAGTACCATCATTCCAGAGATGCTCCTGACACTCAGGACTTGCTGGGAATTCATTTCCTAGTAACTCCAAGATGCAGCCGTTTCTTTCAAAGACCTGGAGGTCAGGACTGATGAAATCGACCTCAGAACACATACAAATTTCTCTGAAAGAAAACCCTTCTGCTGCTTGGGGCTCTGGGACTCCAAACAGGTTAATTCTCAGAGACTGTGACAATTACAAGAGTCTTTCTCCCATTTCCTGAAAACAGCCCTGTCAACACCTGCTGCAGGCAGCCTGTGGGGGTTCTGTCTTCTCCATTCATCTCTACCTACCTCCCAGCCCTAAGCCACCTTAATACATGTACAATCTAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTC
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TATCTATTTTCTTTACAAGTGTAGATGCTTGATGAAGTTTGAGACCACGCCTGTTTCTGCTCACCCCAGCAAAGCAGTTAGCAAATTGTGAGCCTGCAACTGTTTGAAGAGAAATGGGGACTTTATGACCCTTCTGTCCCTTCTAGCTTTCACACTCGGTCATTTTTCCTGCCAACCCTCACATACAAGTTGTCTACTGCTGCCTCAGTTCCTTTCTATCCCTAGCCTCCTTAAGACCAGACAGCTGGATTCTGCCTCCATCCTTCCATTAAACCACTTTGTAAAGTCACTCATATCATCAATCCTTGTAGCCTTTTTCAATTGTCTGCATTGACAGTATTACCTGAAACCTAGTCCCTTACCTGTCCTTGACCTTCCACCACCTCCCTTGGTGAGATGATTATCTCCCGTTTTAGTTACCACTCCCTTTCTGAGGATGTGCCATTTGAAAATGTTTCTTCTGAAATGCCACCTGGTCACGTACTGCTTAAACACCAGCAGGGGTAGGGATGTTCCTCACTGCCTGAGGTAGTTCATTTAGGCAATTCTGAATGCTTAGGTTGTTTTACCAGCTACAGAAACAGAAACCTGCTCTGTGAAAGGAGACTGGCTGCTCCCAAACTGGGATGCTTGCAGAGGTTTTGCTGAGGTGCAGAAGGTAAAGTCTTCCGTCATGTGAAAAAAGGTCTTCCCAGCTGTCTCCGTGTCAGGAAAGAGGGGCTCCACTTTGATGGCAGGCTCTCAGCCACACCCTTGTCACGTTCTTAGCTCTATTGAATGGAGCTGAAAATAATGAGAAAACTTCAGATTCATTATTCAACATTCTGCTATTTCCATCTGGCTAACAGGCATGTCAAATTTAACATGTCCAAAACCAAACTTCCAACCTTCCCTCTGAAACCTGAACTTCCTGTTTTTCCCATCTCAGTAGAGGGCAACTTTCTTCCAGCTGTTCAGGTCCAAAACCTTGAAATCATTTTTGGCTTCTTTTTCTCACAACCCACATTCCCATCACCAAATTCTTCTGCCCTCAGGAACACAGGCAAAGTACAACCACTTGTAACCATTTCCACTGGTCCATGCACGTCGCAGCCACTGTCTCCTCAGCCCATGGTGAATGCTCAGCTGGTCTCCCTTCGTTGCTCTTGTCCTCCACACAGAAACTAGAATAATCCTTGAAAAACACTCCTCTGCTCAAAATCCTTCCATGGTATCTCATTTCCCTCAGAAAACACATACTTTTCTGAGTGGCTTCCAGGGGCCTGCGTGATCTGGCCCCTCACTGACCTTCACTCATCCCTGTCCAGTCACACCAGACCCTCTGCCATTCCTCAAAAACATGGTCCTTTAGTCTGAATGGCCTTTTCCCACAGACCTCCCCAGCTCAGTCTCCAGACCTCTACTGAAATGCCCAGCAGAGGTCTTCCTGACCACCATAAAGTAGCACTGTTCCTTCCACCTCTAAAATAGCACCTCTGTCCCCTTACCCTGCTCCATTTTTCTTCTTAGTATATACCACCACCAGAAAGAACATGTATTTACTTGTTTTTTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCTTATTTGGTAACAGGATTAAAAAGAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAAAGCAGCACACAAGAATTCCCTTGCAGACCTTGATCTTTCGCAGAAATGCAAAGACGCCTGAGTTATACAACTTGCAATTATTATTTTCTAGACAGAAGTGCCAACTGTTGTGCTTTCCAGTGTATCAGTGGTTGCTACATTCTCCTTCTTGTCTTCGGGTTTCATGGCAGGAAACAGAAATACTTCCTGTGGGAGATAAGAATGTACCTTGAAGCTGAGAAGCACTCTCAACATTTTTTCACAGCTATCTACCCATTCCTCTTGCCTCTGTTGTTACCACCAAAATCCAGAGATTAGTATATTCCAGCTGAAAAGGCTCATGTGTTCTTTTATTTCAACTCAGACCCTCTCAAGTTACAGATGACAAAGAACAAATGCATAGCACTGCCTAGGGCACTATGTCAAAAGGATGAATAGACGCATTTCTATGAAAATTTGATTTCCTCATCTATAAAAATGGGAAACAACAGTTTCTACACCTCATAAGGCTGACTTAATTAGCTGAAATAATGCACGGAGACTTCCCTGGATCCTCAAGAAATGCAAACAATTAGTATTCCTTCTGCCCCTGGTAGGAAAAAACCCAAATCCTTTAAGGTCAGAGGCTCTGGCCCTCCTGTGAGTGGCATGGAACTCCTCTGCCTGCTCCTCTTCCCAGCCCAAAGCCCTTCCTTAATTTTATCCTCCAGGCCCACCATGCCCTGGCTCCAACACAATGCAGCTTCCTCAGGAAGTGTGCTCTGTGGAGGGTTGCTACGTACCTTGATGTTGTTGGAGTCCGTGAGAAACATGGCGACTCGATCAATGCCCATGCCCCAGCCAGCTGTGGGGGGCAGCCCATATTCCAGGGCAGTACAGAAGTTTTCATCTATGAACATGGCCTCATCATCACCTGCAGCCTTGGCCTAGAAGAGGAAAGAGAACCAAAAGGTGACCTTCTTCTAAGATATCTCAGTGTGTGAGTGAACATGTTACCAGGCTCCGAGGTGGGAGTACCATCATTCCAGAGATGCTCCTGACACTCAGGACTTGCTGGGAATTCATTTCCTAGTAACTCCAAGATGCAGCCGTTTCTTTCAAAGACCTGGAGGTCAGGACTGATGAAATCGACCTCAGAACACATACAAATTTCTCTGAAAGAAAACCCTTCTGCTGCTTGGGGCTCTGGGACTCCAAACAGGTTAATTCTCAGAGACTGTGACAATTACAAGAGTCTTTCTCCCATTTCCTGAAAACAGCCCTGTCAACACCTGCTGCAGGCAGCCTGTGGGGGTTCTGTCTTCTCCATTCATCTCTACCTACCTCCCAGCCCTAAGCCACCTTAATACATGTACAATCTAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTC
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Task1_train_22921
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A variant found in Chromosome 16 affects KARS1 (lysyl-tRNA synthetase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Leukoencephalopathy, progressive, infantile-onset, with or without deafness
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TGTCAGGAAAGAGGGGCTCCACTTTGATGGCAGGCTCTCAGCCACACCCTTGTCACGTTCTTAGCTCTATTGAATGGAGCTGAAAATAATGAGAAAACTTCAGATTCATTATTCAACATTCTGCTATTTCCATCTGGCTAACAGGCATGTCAAATTTAACATGTCCAAAACCAAACTTCCAACCTTCCCTCTGAAACCTGAACTTCCTGTTTTTCCCATCTCAGTAGAGGGCAACTTTCTTCCAGCTGTTCAGGTCCAAAACCTTGAAATCATTTTTGGCTTCTTTTTCTCACAACCCACATTCCCATCACCAAATTCTTCTGCCCTCAGGAACACAGGCAAAGTACAACCACTTGTAACCATTTCCACTGGTCCATGCACGTCGCAGCCACTGTCTCCTCAGCCCATGGTGAATGCTCAGCTGGTCTCCCTTCGTTGCTCTTGTCCTCCACACAGAAACTAGAATAATCCTTGAAAAACACTCCTCTGCTCAAAATCCTTCCATGGTATCTCATTTCCCTCAGAAAACACATACTTTTCTGAGTGGCTTCCAGGGGCCTGCGTGATCTGGCCCCTCACTGACCTTCACTCATCCCTGTCCAGTCACACCAGACCCTCTGCCATTCCTCAAAAACATGGTCCTTTAGTCTGAATGGCCTTTTCCCACAGACCTCCCCAGCTCAGTCTCCAGACCTCTACTGAAATGCCCAGCAGAGGTCTTCCTGACCACCATAAAGTAGCACTGTTCCTTCCACCTCTAAAATAGCACCTCTGTCCCCTTACCCTGCTCCATTTTTCTTCTTAGTATATACCACCACCAGAAAGAACATGTATTTACTTGTTTTTTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCTTATTTGGTAACAGGATTAAAAAGAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAAAGCAGCACACAAGAATTCCCTTGCAGACCTTGATCTTTCGCAGAAATGCAAAGACGCCTGAGTTATACAACTTGCAATTATTATTTTCTAGACAGAAGTGCCAACTGTTGTGCTTTCCAGTGTATCAGTGGTTGCTACATTCTCCTTCTTGTCTTCGGGTTTCATGGCAGGAAACAGAAGTACTTCCTGTGGGAGATAAGAATGTACCTTGAAGCTGAGAAGCACTCTCAACATTTTTTCACAGCTATCTACCCATTCCTCTTGCCTCTGTTGTTACCACCAAAATCCAGAGATTAGTATATTCCAGCTGAAAAGGCTCATGTGTTCTTTTATTTCAACTCAGACCCTCTCAAGTTACAGATGACAAAGAACAAATGCATAGCACTGCCTAGGGCACTATGTCAAAAGGATGAATAGACGCATTTCTATGAAAATTTGATTTCCTCATCTATAAAAATGGGAAACAACAGTTTCTACACCTCATAAGGCTGACTTAATTAGCTGAAATAATGCACGGAGACTTCCCTGGATCCTCAAGAAATGCAAACAATTAGTATTCCTTCTGCCCCTGGTAGGAAAAAACCCAAATCCTTTAAGGTCAGAGGCTCTGGCCCTCCTGTGAGTGGCATGGAACTCCTCTGCCTGCTCCTCTTCCCAGCCCAAAGCCCTTCCTTAATTTTATCCTCCAGGCCCACCATGCCCTGGCTCCAACACAATGCAGCTTCCTCAGGAAGTGTGCTCTGTGGAGGGTTGCTACGTACCTTGATGTTGTTGGAGTCCGTGAGAAACATGGCGACTCGATCAATGCCCATGCCCCAGCCAGCTGTGGGGGGCAGCCCATATTCCAGGGCAGTACAGAAGTTTTCATCTATGAACATGGCCTCATCATCACCTGCAGCCTTGGCCTAGAAGAGGAAAGAGAACCAAAAGGTGACCTTCTTCTAAGATATCTCAGTGTGTGAGTGAACATGTTACCAGGCTCCGAGGTGGGAGTACCATCATTCCAGAGATGCTCCTGACACTCAGGACTTGCTGGGAATTCATTTCCTAGTAACTCCAAGATGCAGCCGTTTCTTTCAAAGACCTGGAGGTCAGGACTGATGAAATCGACCTCAGAACACATACAAATTTCTCTGAAAGAAAACCCTTCTGCTGCTTGGGGCTCTGGGACTCCAAACAGGTTAATTCTCAGAGACTGTGACAATTACAAGAGTCTTTCTCCCATTTCCTGAAAACAGCCCTGTCAACACCTGCTGCAGGCAGCCTGTGGGGGTTCTGTCTTCTCCATTCATCTCTACCTACCTCCCAGCCCTAAGCCACCTTAATACATGTACAATCTAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTG
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TGTCAGGAAAGAGGGGCTCCACTTTGATGGCAGGCTCTCAGCCACACCCTTGTCACGTTCTTAGCTCTATTGAATGGAGCTGAAAATAATGAGAAAACTTCAGATTCATTATTCAACATTCTGCTATTTCCATCTGGCTAACAGGCATGTCAAATTTAACATGTCCAAAACCAAACTTCCAACCTTCCCTCTGAAACCTGAACTTCCTGTTTTTCCCATCTCAGTAGAGGGCAACTTTCTTCCAGCTGTTCAGGTCCAAAACCTTGAAATCATTTTTGGCTTCTTTTTCTCACAACCCACATTCCCATCACCAAATTCTTCTGCCCTCAGGAACACAGGCAAAGTACAACCACTTGTAACCATTTCCACTGGTCCATGCACGTCGCAGCCACTGTCTCCTCAGCCCATGGTGAATGCTCAGCTGGTCTCCCTTCGTTGCTCTTGTCCTCCACACAGAAACTAGAATAATCCTTGAAAAACACTCCTCTGCTCAAAATCCTTCCATGGTATCTCATTTCCCTCAGAAAACACATACTTTTCTGAGTGGCTTCCAGGGGCCTGCGTGATCTGGCCCCTCACTGACCTTCACTCATCCCTGTCCAGTCACACCAGACCCTCTGCCATTCCTCAAAAACATGGTCCTTTAGTCTGAATGGCCTTTTCCCACAGACCTCCCCAGCTCAGTCTCCAGACCTCTACTGAAATGCCCAGCAGAGGTCTTCCTGACCACCATAAAGTAGCACTGTTCCTTCCACCTCTAAAATAGCACCTCTGTCCCCTTACCCTGCTCCATTTTTCTTCTTAGTATATACCACCACCAGAAAGAACATGTATTTACTTGTTTTTTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCTTATTTGGTAACAGGATTAAAAAGAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAAAGCAGCACACAAGAATTCCCTTGCAGACCTTGATCTTTCGCAGAAATGCAAAGACGCCTGAGTTATACAACTTGCAATTATTATTTTCTAGACAGAAGTGCCAACTGTTGTGCTTTCCAGTGTATCAGTGGTTGCTACATTCTCCTTCTTGTCTTCGGGTTTCATGGCAGGAAACAGAAGTACTTCCTGTGGGAGATAAGAATGTACCTTGAAGCTGAGAAGCACTCTCAACATTTTTTCACAGCTATCTACCCATTCCTCTTGCCTCTGTTGTTACCACCAAAATCCAGAGATTAGTATATTCCAGCTGAAAAGGCTCATGTGTTCTTTTATTTCAACTCAGACCCTCTCAAGTTACAGATGACAAAGAACAAATGCATAGCACTGCCTAGGGCACTATGTCAAAAGGATGAATAGACGCATTTCTATGAAAATTTGATTTCCTCATCTATAAAAATGGGAAACAACAGTTTCTACACCTCATAAGGCTGACTTAATTAGCTGAAATAATGCACGGAGACTTCCCTGGATCCTCAAGAAATGCAAACAATTAGTATTCCTTCTGCCCCTGGTAGGAAAAAACCCAAATCCTTTAAGGTCAGAGGCTCTGGCCCTCCTGTGAGTGGCATGGAACTCCTCTGCCTGCTCCTCTTCCCAGCCCAAAGCCCTTCCTTAATTTTATCCTCCAGGCCCACCATGCCCTGGCTCCAACACAATGCAGCTTCCTCAGGAAGTGTGCTCTGTGGAGGGTTGCTACGTACCTTGATGTTGTTGGAGTCCGTGAGAAACATGGCGACTCGATCAATGCCCATGCCCCAGCCAGCTGTGGGGGGCAGCCCATATTCCAGGGCAGTACAGAAGTTTTCATCTATGAACATGGCCTTATCATCACCTGCAGCCTTGGCCTAGAAGAGGAAAGAGAACCAAAAGGTGACCTTCTTCTAAGATATCTCAGTGTGTGAGTGAACATGTTACCAGGCTCCGAGGTGGGAGTACCATCATTCCAGAGATGCTCCTGACACTCAGGACTTGCTGGGAATTCATTTCCTAGTAACTCCAAGATGCAGCCGTTTCTTTCAAAGACCTGGAGGTCAGGACTGATGAAATCGACCTCAGAACACATACAAATTTCTCTGAAAGAAAACCCTTCTGCTGCTTGGGGCTCTGGGACTCCAAACAGGTTAATTCTCAGAGACTGTGACAATTACAAGAGTCTTTCTCCCATTTCCTGAAAACAGCCCTGTCAACACCTGCTGCAGGCAGCCTGTGGGGGTTCTGTCTTCTCCATTCATCTCTACCTACCTCCCAGCCCTAAGCCACCTTAATACATGTACAATCTAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTG
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Task1_train_22922
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With a mutation on Chromosome 16 in gene KARS1 (lysyl-tRNA synthetase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Deafness, congenital, and adult-onset progressive leukoencephalopathy
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ATAGCACCTCTGTCCCCTTACCCTGCTCCATTTTTCTTCTTAGTATATACCACCACCAGAAAGAACATGTATTTACTTGTTTTTTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCTTATTTGGTAACAGGATTAAAAAGAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAAAGCAGCACACAAGAATTCCCTTGCAGACCTTGATCTTTCGCAGAAATGCAAAGACGCCTGAGTTATACAACTTGCAATTATTATTTTCTAGACAGAAGTGCCAACTGTTGTGCTTTCCAGTGTATCAGTGGTTGCTACATTCTCCTTCTTGTCTTCGGGTTTCATGGCAGGAAACAGAAGTACTTCCTGTGGGAGATAAGAATGTACCTTGAAGCTGAGAAGCACTCTCAACATTTTTTCACAGCTATCTACCCATTCCTCTTGCCTCTGTTGTTACCACCAAAATCCAGAGATTAGTATATTCCAGCTGAAAAGGCTCATGTGTTCTTTTATTTCAACTCAGACCCTCTCAAGTTACAGATGACAAAGAACAAATGCATAGCACTGCCTAGGGCACTATGTCAAAAGGATGAATAGACGCATTTCTATGAAAATTTGATTTCCTCATCTATAAAAATGGGAAACAACAGTTTCTACACCTCATAAGGCTGACTTAATTAGCTGAAATAATGCACGGAGACTTCCCTGGATCCTCAAGAAATGCAAACAATTAGTATTCCTTCTGCCCCTGGTAGGAAAAAACCCAAATCCTTTAAGGTCAGAGGCTCTGGCCCTCCTGTGAGTGGCATGGAACTCCTCTGCCTGCTCCTCTTCCCAGCCCAAAGCCCTTCCTTAATTTTATCCTCCAGGCCCACCATGCCCTGGCTCCAACACAATGCAGCTTCCTCAGGAAGTGTGCTCTGTGGAGGGTTGCTACGTACCTTGATGTTGTTGGAGTCCGTGAGAAACATGGCGACTCGATCAATGCCCATGCCCCAGCCAGCTGTGGGGGGCAGCCCATATTCCAGGGCAGTACAGAAGTTTTCATCTATGAACATGGCCTCATCATCACCTGCAGCCTTGGCCTAGAAGAGGAAAGAGAACCAAAAGGTGACCTTCTTCTAAGATATCTCAGTGTGTGAGTGAACATGTTACCAGGCTCCGAGGTGGGAGTACCATCATTCCAGAGATGCTCCTGACACTCAGGACTTGCTGGGAATTCATTTCCTAGTAACTCCAAGATGCAGCCGTTTCTTTCAAAGACCTGGAGGTCAGGACTGATGAAATCGACCTCAGAACACATACAAATTTCTCTGAAAGAAAACCCTTCTGCTGCTTGGGGCTCTGGGACTCCAAACAGGTTAATTCTCAGAGACTGTGACAATTACAAGAGTCTTTCTCCCATTTCCTGAAAACAGCCCTGTCAACACCTGCTGCAGGCAGCCTGTGGGGGTTCTGTCTTCTCCATTCATCTCTACCTACCTCCCAGCCCTAAGCCACCTTAATACATGTACAATCTAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCGGGGATTACAGGTGCCCGCCACCATACCCAGCTCATTTTTGGATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATTCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCACCCTACCCTATAGCTTTTTAAAAGCTGGACGGGATTAACTGAGATCACACACATAAATTATTTGGCACAGAGCTTAGTATGACAGTTAAAAGTCTGTTAATTCTCTTGTTCTCTCTCTAGGGTTTTCCTGTGAAGCTGCAGAAATGAACTCTCCCCAGTGGGGTTCATTTTCCCAGGGAAGAGGGAACCATTCAGCACCAGATGAGGACATGTACAAGAAGGCAGGGCCTTCTCACCTTGTCAAGGAGCCTGGCTGTGGTCCGAGGTGGAGGGCATTCAACAGCTTTTGCCACACAGATATCATCAAGAATTTTGCGAGTTTCTGGGACACAAATGCAAAAGTTAGGGCAGGAGACATCACACTAGCCAAGTAAAAATGTACATAAAGAGAATAGTGTGGGAAATTCTAGCTCTGACCCAATCAAATTCAGAGCTGAACAGGAAGGAGGGCCTTACAACGGAGGAGTGAGTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTTCGTTTCTGGCAGCTTCATCCCCAGGGCTTTCTCAAGCTCTTCTACCATGTTGATTCGCCGGAAGGG
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ATAGCACCTCTGTCCCCTTACCCTGCTCCATTTTTCTTCTTAGTATATACCACCACCAGAAAGAACATGTATTTACTTGTTTTTTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCTTATTTGGTAACAGGATTAAAAAGAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAAAGCAGCACACAAGAATTCCCTTGCAGACCTTGATCTTTCGCAGAAATGCAAAGACGCCTGAGTTATACAACTTGCAATTATTATTTTCTAGACAGAAGTGCCAACTGTTGTGCTTTCCAGTGTATCAGTGGTTGCTACATTCTCCTTCTTGTCTTCGGGTTTCATGGCAGGAAACAGAAGTACTTCCTGTGGGAGATAAGAATGTACCTTGAAGCTGAGAAGCACTCTCAACATTTTTTCACAGCTATCTACCCATTCCTCTTGCCTCTGTTGTTACCACCAAAATCCAGAGATTAGTATATTCCAGCTGAAAAGGCTCATGTGTTCTTTTATTTCAACTCAGACCCTCTCAAGTTACAGATGACAAAGAACAAATGCATAGCACTGCCTAGGGCACTATGTCAAAAGGATGAATAGACGCATTTCTATGAAAATTTGATTTCCTCATCTATAAAAATGGGAAACAACAGTTTCTACACCTCATAAGGCTGACTTAATTAGCTGAAATAATGCACGGAGACTTCCCTGGATCCTCAAGAAATGCAAACAATTAGTATTCCTTCTGCCCCTGGTAGGAAAAAACCCAAATCCTTTAAGGTCAGAGGCTCTGGCCCTCCTGTGAGTGGCATGGAACTCCTCTGCCTGCTCCTCTTCCCAGCCCAAAGCCCTTCCTTAATTTTATCCTCCAGGCCCACCATGCCCTGGCTCCAACACAATGCAGCTTCCTCAGGAAGTGTGCTCTGTGGAGGGTTGCTACGTACCTTGATGTTGTTGGAGTCCGTGAGAAACATGGCGACTCGATCAATGCCCATGCCCCAGCCAGCTGTGGGGGGCAGCCCATATTCCAGGGCAGTACAGAAGTTTTCATCTATGAACATGGCCTCATCATCACCTGCAGCCTTGGCCTAGAAGAGGAAAGAGAACCAAAAGGTGACCTTCTTCTAAGATATCTCAGTGTGTGAGTGAACATGTTACCAGGCTCCGAGGTGGGAGTACCATCATTCCAGAGATGCTCCTGACACTCAGGACTTGCTGGGAATTCATTTCCTAGTAACTCCAAGATGCAGCCGTTTCTTTCAAAGACCTGGAGGTCAGGACTGATGAAATCGACCTCAGAACACATACAAATTTCTCTGAAAGAAAACCCTTCTGCTGCTTGGGGCTCTGGGACTCCAAACAGGTTAATTCTCAGAGACTGTGACAATTACAAGAGTCTTTCTCCCATTTCCTGAAAACAGCCCTGTCAACACCTGCTGCAGGCAGCCTGTGGGGGTTCTGTCTTCTCCATTCATCTCTACCTACCTCCCAGCCCTAAGCCACCTTAATACATGTACAATCTAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGAATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCGGGGATTACAGGTGCCCGCCACCATACCCAGCTCATTTTTGGATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATTCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCACCCTACCCTATAGCTTTTTAAAAGCTGGACGGGATTAACTGAGATCACACACATAAATTATTTGGCACAGAGCTTAGTATGACAGTTAAAAGTCTGTTAATTCTCTTGTTCTCTCTCTAGGGTTTTCCTGTGAAGCTGCAGAAATGAACTCTCCCCAGTGGGGTTCATTTTCCCAGGGAAGAGGGAACCATTCAGCACCAGATGAGGACATGTACAAGAAGGCAGGGCCTTCTCACCTTGTCAAGGAGCCTGGCTGTGGTCCGAGGTGGAGGGCATTCAACAGCTTTTGCCACACAGATATCATCAAGAATTTTGCGAGTTTCTGGGACACAAATGCAAAAGTTAGGGCAGGAGACATCACACTAGCCAAGTAAAAATGTACATAAAGAGAATAGTGTGGGAAATTCTAGCTCTGACCCAATCAAATTCAGAGCTGAACAGGAAGGAGGGCCTTACAACGGAGGAGTGAGTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTTCGTTTCTGGCAGCTTCATCCCCAGGGCTTTCTCAAGCTCTTCTACCATGTTGATTCGCCGGAAGGG
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Task1_train_22923
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A variant affecting Chromosome 16, within the gene KARS1, LOC126862402 (lysyl-tRNA synthetase 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 89
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TTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCTTATTTGGTAACAGGATTAAAAAGAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAAAGCAGCACACAAGAATTCCCTTGCAGACCTTGATCTTTCGCAGAAATGCAAAGACGCCTGAGTTATACAACTTGCAATTATTATTTTCTAGACAGAAGTGCCAACTGTTGTGCTTTCCAGTGTATCAGTGGTTGCTACATTCTCCTTCTTGTCTTCGGGTTTCATGGCAGGAAACAGAAGTACTTCCTGTGGGAGATAAGAATGTACCTTGAAGCTGAGAAGCACTCTCAACATTTTTTCACAGCTATCTACCCATTCCTCTTGCCTCTGTTGTTACCACCAAAATCCAGAGATTAGTATATTCCAGCTGAAAAGGCTCATGTGTTCTTTTATTTCAACTCAGACCCTCTCAAGTTACAGATGACAAAGAACAAATGCATAGCACTGCCTAGGGCACTATGTCAAAAGGATGAATAGACGCATTTCTATGAAAATTTGATTTCCTCATCTATAAAAATGGGAAACAACAGTTTCTACACCTCATAAGGCTGACTTAATTAGCTGAAATAATGCACGGAGACTTCCCTGGATCCTCAAGAAATGCAAACAATTAGTATTCCTTCTGCCCCTGGTAGGAAAAAACCCAAATCCTTTAAGGTCAGAGGCTCTGGCCCTCCTGTGAGTGGCATGGAACTCCTCTGCCTGCTCCTCTTCCCAGCCCAAAGCCCTTCCTTAATTTTATCCTCCAGGCCCACCATGCCCTGGCTCCAACACAATGCAGCTTCCTCAGGAAGTGTGCTCTGTGGAGGGTTGCTACGTACCTTGATGTTGTTGGAGTCCGTGAGAAACATGGCGACTCGATCAATGCCCATGCCCCAGCCAGCTGTGGGGGGCAGCCCATATTCCAGGGCAGTACAGAAGTTTTCATCTATGAACATGGCCTCATCATCACCTGCAGCCTTGGCCTAGAAGAGGAAAGAGAACCAAAAGGTGACCTTCTTCTAAGATATCTCAGTGTGTGAGTGAACATGTTACCAGGCTCCGAGGTGGGAGTACCATCATTCCAGAGATGCTCCTGACACTCAGGACTTGCTGGGAATTCATTTCCTAGTAACTCCAAGATGCAGCCGTTTCTTTCAAAGACCTGGAGGTCAGGACTGATGAAATCGACCTCAGAACACATACAAATTTCTCTGAAAGAAAACCCTTCTGCTGCTTGGGGCTCTGGGACTCCAAACAGGTTAATTCTCAGAGACTGTGACAATTACAAGAGTCTTTCTCCCATTTCCTGAAAACAGCCCTGTCAACACCTGCTGCAGGCAGCCTGTGGGGGTTCTGTCTTCTCCATTCATCTCTACCTACCTCCCAGCCCTAAGCCACCTTAATACATGTACAATCTAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCGGGGATTACAGGTGCCCGCCACCATACCCAGCTCATTTTTGGATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATTCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCACCCTACCCTATAGCTTTTTAAAAGCTGGACGGGATTAACTGAGATCACACACATAAATTATTTGGCACAGAGCTTAGTATGACAGTTAAAAGTCTGTTAATTCTCTTGTTCTCTCTCTAGGGTTTTCCTGTGAAGCTGCAGAAATGAACTCTCCCCAGTGGGGTTCATTTTCCCAGGGAAGAGGGAACCATTCAGCACCAGATGAGGACATGTACAAGAAGGCAGGGCCTTCTCACCTTGTCAAGGAGCCTGGCTGTGGTCCGAGGTGGAGGGCATTCAACAGCTTTTGCCACACAGATATCATCAAGAATTTTGCGAGTTTCTGGGACACAAATGCAAAAGTTAGGGCAGGAGACATCACACTAGCCAAGTAAAAATGTACATAAAGAGAATAGTGTGGGAAATTCTAGCTCTGACCCAATCAAATTCAGAGCTGAACAGGAAGGAGGGCCTTACAACGGAGGAGTGAGTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTTCGTTTCTGGCAGCTTCATCCCCAGGGCTTTCTCAAGCTCTTCTACCATGTTGATTCGCCGGAAGGGTGGGGTGAAGTCAACATCGTAGGCTTGGCCCTCTGGGCCATCTGGGTGGTAGGTGACCTTGTAACTGCCTGTAATATGCTTCA
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TTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCTTATTTGGTAACAGGATTAAAAAGAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAAAGCAGCACACAAGAATTCCCTTGCAGACCTTGATCTTTCGCAGAAATGCAAAGACGCCTGAGTTATACAACTTGCAATTATTATTTTCTAGACAGAAGTGCCAACTGTTGTGCTTTCCAGTGTATCAGTGGTTGCTACATTCTCCTTCTTGTCTTCGGGTTTCATGGCAGGAAACAGAAGTACTTCCTGTGGGAGATAAGAATGTACCTTGAAGCTGAGAAGCACTCTCAACATTTTTTCACAGCTATCTACCCATTCCTCTTGCCTCTGTTGTTACCACCAAAATCCAGAGATTAGTATATTCCAGCTGAAAAGGCTCATGTGTTCTTTTATTTCAACTCAGACCCTCTCAAGTTACAGATGACAAAGAACAAATGCATAGCACTGCCTAGGGCACTATGTCAAAAGGATGAATAGACGCATTTCTATGAAAATTTGATTTCCTCATCTATAAAAATGGGAAACAACAGTTTCTACACCTCATAAGGCTGACTTAATTAGCTGAAATAATGCACGGAGACTTCCCTGGATCCTCAAGAAATGCAAACAATTAGTATTCCTTCTGCCCCTGGTAGGAAAAAACCCAAATCCTTTAAGGTCAGAGGCTCTGGCCCTCCTGTGAGTGGCATGGAACTCCTCTGCCTGCTCCTCTTCCCAGCCCAAAGCCCTTCCTTAATTTTATCCTCCAGGCCCACCATGCCCTGGCTCCAACACAATGCAGCTTCCTCAGGAAGTGTGCTCTGTGGAGGGTTGCTACGTACCTTGATGTTGTTGGAGTCCGTGAGAAACATGGCGACTCGATCAATGCCCATGCCCCAGCCAGCTGTGGGGGGCAGCCCATATTCCAGGGCAGTACAGAAGTTTTCATCTATGAACATGGCCTCATCATCACCTGCAGCCTTGGCCTAGAAGAGGAAAGAGAACCAAAAGGTGACCTTCTTCTAAGATATCTCAGTGTGTGAGTGAACATGTTACCAGGCTCCGAGGTGGGAGTACCATCATTCCAGAGATGCTCCTGACACTCAGGACTTGCTGGGAATTCATTTCCTAGTAACTCCAAGATGCAGCCGTTTCTTTCAAAGACCTGGAGGTCAGGACTGATGAAATCGACCTCAGAACACATACAAATTTCTCTGAAAGAAAACCCTTCTGCTGCTTGGGGCTCTGGGACTCCAAACAGGTTAATTCTCAGAGACTGTGACAATTACAAGAGTCTTTCTCCCATTTCCTGAAAACAGCCCTGTCAACACCTGCTGCAGGCAGCCTGTGGGGGTTCTGTCTTCTCCATTCATCTCTACCTACCTCCCAGCCCTAAGCCACCTTAATACATGTACAATCTAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGTGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCGGGGATTACAGGTGCCCGCCACCATACCCAGCTCATTTTTGGATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATTCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCACCCTACCCTATAGCTTTTTAAAAGCTGGACGGGATTAACTGAGATCACACACATAAATTATTTGGCACAGAGCTTAGTATGACAGTTAAAAGTCTGTTAATTCTCTTGTTCTCTCTCTAGGGTTTTCCTGTGAAGCTGCAGAAATGAACTCTCCCCAGTGGGGTTCATTTTCCCAGGGAAGAGGGAACCATTCAGCACCAGATGAGGACATGTACAAGAAGGCAGGGCCTTCTCACCTTGTCAAGGAGCCTGGCTGTGGTCCGAGGTGGAGGGCATTCAACAGCTTTTGCCACACAGATATCATCAAGAATTTTGCGAGTTTCTGGGACACAAATGCAAAAGTTAGGGCAGGAGACATCACACTAGCCAAGTAAAAATGTACATAAAGAGAATAGTGTGGGAAATTCTAGCTCTGACCCAATCAAATTCAGAGCTGAACAGGAAGGAGGGCCTTACAACGGAGGAGTGAGTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTTCGTTTCTGGCAGCTTCATCCCCAGGGCTTTCTCAAGCTCTTCTACCATGTTGATTCGCCGGAAGGGTGGGGTGAAGTCAACATCGTAGGCTTGGCCCTCTGGGCCATCTGGGTGGTAGGTGACCTTGTAACTGCCTGTAATATGCTTCA
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Task1_train_22924
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Gene KARS1 (lysyl-tRNA synthetase 1) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Leukoencephalopathy, progressive, infantile-onset, with or without deafness
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TAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCGGGGATTACAGGTGCCCGCCACCATACCCAGCTCATTTTTGGATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATTCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCACCCTACCCTATAGCTTTTTAAAAGCTGGACGGGATTAACTGAGATCACACACATAAATTATTTGGCACAGAGCTTAGTATGACAGTTAAAAGTCTGTTAATTCTCTTGTTCTCTCTCTAGGGTTTTCCTGTGAAGCTGCAGAAATGAACTCTCCCCAGTGGGGTTCATTTTCCCAGGGAAGAGGGAACCATTCAGCACCAGATGAGGACATGTACAAGAAGGCAGGGCCTTCTCACCTTGTCAAGGAGCCTGGCTGTGGTCCGAGGTGGAGGGCATTCAACAGCTTTTGCCACACAGATATCATCAAGAATTTTGCGAGTTTCTGGGACACAAATGCAAAAGTTAGGGCAGGAGACATCACACTAGCCAAGTAAAAATGTACATAAAGAGAATAGTGTGGGAAATTCTAGCTCTGACCCAATCAAATTCAGAGCTGAACAGGAAGGAGGGCCTTACAACGGAGGAGTGAGTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTTCGTTTCTGGCAGCTTCATCCCCAGGGCTTTCTCAAGCTCTTCTACCATGTTGATTCGCCGGAAGGGTGGGGTGAAGTCAACATCGTAGGCTTGGCCCTCTGGGCCATCTGGGTGGTAGGTGACCTTGTAACTGCCTGTAATATGCTTCACCATCCCTGGGAGAGAAACCTGTTATTTAGCGGGAATGAAATCCAGGCAGCCCTCCTCTGAAAGCAGCATACCAACCACCCGATGAGTATGAGAGAGAGCAGGAGTCACCTGAAACCATCTTCTCCGTGATTTCCATGAGATCGTGATAGTCTGCATAGGCCATGTAGAACTCACAGGTGGTGAACTCAGGATTGTGCGTCAAATCAATCCCCTCATTCCGGAACTGGCGTCCAATTTCATAAACCCGGTCGATGCCACCAACCACAAGCATCTAACAACAACACATGGCCACGGTCATGACAGCTAATCTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCAAGATCTCAGCTCACCGCAACCTCCGCCTCCTAGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCTGTATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCCATGACAGCTAATCTTGTATTAACAGCTCTGGGAAGTTTCAGTCTCCAAAAGCCGTAACTTGGTTTTCACAGGTTAGGTATACTCTCAGGTCTCTGGTCAAATTGCCAAGCACCCTGCTCTCTTTATACCCTTGTAGTGTGGATAGTTACCCCTTTTTTGGCTGCCTAGGACTTCTCGATACTCTTCCTGTCTTGGGCATCCCCCATCATTGAGTCTGAACCTCCCCAAGGAAGCAGCCTCTCTTGGGGTTAGGCTGCAGGCGTGTGACCCAAGCTCCACCAGTCAGATACACTTGTGAGACTTCAGCATGGAAACTACTAACAAAAGATGTGGGTATTGCATAGAATTCATTCTGGTGAAGGGGGCCAGTCACACGTAGCTTTTAGATTGCAGAGGTCCTAGCGGCAATGACTTGTGCCTAGTGCCAGGATTATGAGCTGTAGTAACTGTGCCTACTAGGAAAATACACTGGGTTCTCCATGAGAACAGCCCATTCTAATATGACTCAGAATCATTCCTAGTTGTATAGTTTCCAAGCCTGATTCTCTGATCCTCCTGGGGACTGTGAGCTTCCTCTATGTTGGGATTCACTCAGGATGGTGGCAGAAATATTAAAGGGAAATATTGGGGAAAGTTATAAGGAATAGTCACAAACCTTTTGGAAGGCCGAAAGGTTACGTAGCTTGTAATAACTGAACAGGCTGAAGGCAGCCAGTTCTTACCGTACAGCATTAGGTCATAGGGTAAATACTACGGAAAATAGAGGCTTCCCCAGTTAAGTCTGTTTACCCTACCTCCATTAACTAACCTTTCAGCCAGATGGCCCTCTTGGGGGGAGGTTGACCAAAGATACTGCTCCCTAATGGTATTTACTTTAGACCATGGTACCTGGACTTTAATAATTCCTAGAACTCCTCTCTTACGATGTTAATTATCCACAAGTGTGTTTACTCAAAGCTTCTGTTGTTAATTCTATACTAAATAAATGCCTGGAGTGAGAGCTGCTCAGGGTCGGCCGCAATGACAAATACACCTCTCTTGGTGTGCAGG
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TAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCGGGGATTACAGGTGCCCGCCACCATACCCAGCTCATTTTTGGATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATTCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCACCCTACCCTATAGCTTTTTAAAAGCTGGACGGGATTAACTGAGATCACACACATAAATTATTTGGCACAGAGCTTAGTATGACAGTTAAAAGTCTGTTAATTCTCTTGTTCTCTCTCTAGGGTTTTCCTGTGAAGCTGCAGAAATGAACTCTCCCCAGTGGGGTTCATTTTCCCAGGGAAGAGGGAACCATTCAGCACCAGATGAGGACATGTACAAGAAGGCAGGGCCTTCTCACCTTGTCAAGGAGCCTGGCTGTGGTCCAAGGTGGAGGGCATTCAACAGCTTTTGCCACACAGATATCATCAAGAATTTTGCGAGTTTCTGGGACACAAATGCAAAAGTTAGGGCAGGAGACATCACACTAGCCAAGTAAAAATGTACATAAAGAGAATAGTGTGGGAAATTCTAGCTCTGACCCAATCAAATTCAGAGCTGAACAGGAAGGAGGGCCTTACAACGGAGGAGTGAGTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTTCGTTTCTGGCAGCTTCATCCCCAGGGCTTTCTCAAGCTCTTCTACCATGTTGATTCGCCGGAAGGGTGGGGTGAAGTCAACATCGTAGGCTTGGCCCTCTGGGCCATCTGGGTGGTAGGTGACCTTGTAACTGCCTGTAATATGCTTCACCATCCCTGGGAGAGAAACCTGTTATTTAGCGGGAATGAAATCCAGGCAGCCCTCCTCTGAAAGCAGCATACCAACCACCCGATGAGTATGAGAGAGAGCAGGAGTCACCTGAAACCATCTTCTCCGTGATTTCCATGAGATCGTGATAGTCTGCATAGGCCATGTAGAACTCACAGGTGGTGAACTCAGGATTGTGCGTCAAATCAATCCCCTCATTCCGGAACTGGCGTCCAATTTCATAAACCCGGTCGATGCCACCAACCACAAGCATCTAACAACAACACATGGCCACGGTCATGACAGCTAATCTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCAAGATCTCAGCTCACCGCAACCTCCGCCTCCTAGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCTGTATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCCATGACAGCTAATCTTGTATTAACAGCTCTGGGAAGTTTCAGTCTCCAAAAGCCGTAACTTGGTTTTCACAGGTTAGGTATACTCTCAGGTCTCTGGTCAAATTGCCAAGCACCCTGCTCTCTTTATACCCTTGTAGTGTGGATAGTTACCCCTTTTTTGGCTGCCTAGGACTTCTCGATACTCTTCCTGTCTTGGGCATCCCCCATCATTGAGTCTGAACCTCCCCAAGGAAGCAGCCTCTCTTGGGGTTAGGCTGCAGGCGTGTGACCCAAGCTCCACCAGTCAGATACACTTGTGAGACTTCAGCATGGAAACTACTAACAAAAGATGTGGGTATTGCATAGAATTCATTCTGGTGAAGGGGGCCAGTCACACGTAGCTTTTAGATTGCAGAGGTCCTAGCGGCAATGACTTGTGCCTAGTGCCAGGATTATGAGCTGTAGTAACTGTGCCTACTAGGAAAATACACTGGGTTCTCCATGAGAACAGCCCATTCTAATATGACTCAGAATCATTCCTAGTTGTATAGTTTCCAAGCCTGATTCTCTGATCCTCCTGGGGACTGTGAGCTTCCTCTATGTTGGGATTCACTCAGGATGGTGGCAGAAATATTAAAGGGAAATATTGGGGAAAGTTATAAGGAATAGTCACAAACCTTTTGGAAGGCCGAAAGGTTACGTAGCTTGTAATAACTGAACAGGCTGAAGGCAGCCAGTTCTTACCGTACAGCATTAGGTCATAGGGTAAATACTACGGAAAATAGAGGCTTCCCCAGTTAAGTCTGTTTACCCTACCTCCATTAACTAACCTTTCAGCCAGATGGCCCTCTTGGGGGGAGGTTGACCAAAGATACTGCTCCCTAATGGTATTTACTTTAGACCATGGTACCTGGACTTTAATAATTCCTAGAACTCCTCTCTTACGATGTTAATTATCCACAAGTGTGTTTACTCAAAGCTTCTGTTGTTAATTCTATACTAAATAAATGCCTGGAGTGAGAGCTGCTCAGGGTCGGCCGCAATGACAAATACACCTCTCTTGGTGTGCAGG
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Task1_train_22925
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A variant affecting Chromosome 16, within the gene KARS1 (lysyl-tRNA synthetase 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; KARS1-related disorder
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TAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCGGGGATTACAGGTGCCCGCCACCATACCCAGCTCATTTTTGGATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATTCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCACCCTACCCTATAGCTTTTTAAAAGCTGGACGGGATTAACTGAGATCACACACATAAATTATTTGGCACAGAGCTTAGTATGACAGTTAAAAGTCTGTTAATTCTCTTGTTCTCTCTCTAGGGTTTTCCTGTGAAGCTGCAGAAATGAACTCTCCCCAGTGGGGTTCATTTTCCCAGGGAAGAGGGAACCATTCAGCACCAGATGAGGACATGTACAAGAAGGCAGGGCCTTCTCACCTTGTCAAGGAGCCTGGCTGTGGTCCGAGGTGGAGGGCATTCAACAGCTTTTGCCACACAGATATCATCAAGAATTTTGCGAGTTTCTGGGACACAAATGCAAAAGTTAGGGCAGGAGACATCACACTAGCCAAGTAAAAATGTACATAAAGAGAATAGTGTGGGAAATTCTAGCTCTGACCCAATCAAATTCAGAGCTGAACAGGAAGGAGGGCCTTACAACGGAGGAGTGAGTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTTCGTTTCTGGCAGCTTCATCCCCAGGGCTTTCTCAAGCTCTTCTACCATGTTGATTCGCCGGAAGGGTGGGGTGAAGTCAACATCGTAGGCTTGGCCCTCTGGGCCATCTGGGTGGTAGGTGACCTTGTAACTGCCTGTAATATGCTTCACCATCCCTGGGAGAGAAACCTGTTATTTAGCGGGAATGAAATCCAGGCAGCCCTCCTCTGAAAGCAGCATACCAACCACCCGATGAGTATGAGAGAGAGCAGGAGTCACCTGAAACCATCTTCTCCGTGATTTCCATGAGATCGTGATAGTCTGCATAGGCCATGTAGAACTCACAGGTGGTGAACTCAGGATTGTGCGTCAAATCAATCCCCTCATTCCGGAACTGGCGTCCAATTTCATAAACCCGGTCGATGCCACCAACCACAAGCATCTAACAACAACACATGGCCACGGTCATGACAGCTAATCTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCAAGATCTCAGCTCACCGCAACCTCCGCCTCCTAGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCTGTATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCCATGACAGCTAATCTTGTATTAACAGCTCTGGGAAGTTTCAGTCTCCAAAAGCCGTAACTTGGTTTTCACAGGTTAGGTATACTCTCAGGTCTCTGGTCAAATTGCCAAGCACCCTGCTCTCTTTATACCCTTGTAGTGTGGATAGTTACCCCTTTTTTGGCTGCCTAGGACTTCTCGATACTCTTCCTGTCTTGGGCATCCCCCATCATTGAGTCTGAACCTCCCCAAGGAAGCAGCCTCTCTTGGGGTTAGGCTGCAGGCGTGTGACCCAAGCTCCACCAGTCAGATACACTTGTGAGACTTCAGCATGGAAACTACTAACAAAAGATGTGGGTATTGCATAGAATTCATTCTGGTGAAGGGGGCCAGTCACACGTAGCTTTTAGATTGCAGAGGTCCTAGCGGCAATGACTTGTGCCTAGTGCCAGGATTATGAGCTGTAGTAACTGTGCCTACTAGGAAAATACACTGGGTTCTCCATGAGAACAGCCCATTCTAATATGACTCAGAATCATTCCTAGTTGTATAGTTTCCAAGCCTGATTCTCTGATCCTCCTGGGGACTGTGAGCTTCCTCTATGTTGGGATTCACTCAGGATGGTGGCAGAAATATTAAAGGGAAATATTGGGGAAAGTTATAAGGAATAGTCACAAACCTTTTGGAAGGCCGAAAGGTTACGTAGCTTGTAATAACTGAACAGGCTGAAGGCAGCCAGTTCTTACCGTACAGCATTAGGTCATAGGGTAAATACTACGGAAAATAGAGGCTTCCCCAGTTAAGTCTGTTTACCCTACCTCCATTAACTAACCTTTCAGCCAGATGGCCCTCTTGGGGGGAGGTTGACCAAAGATACTGCTCCCTAATGGTATTTACTTTAGACCATGGTACCTGGACTTTAATAATTCCTAGAACTCCTCTCTTACGATGTTAATTATCCACAAGTGTGTTTACTCAAAGCTTCTGTTGTTAATTCTATACTAAATAAATGCCTGGAGTGAGAGCTGCTCAGGGTCGGCCGCAATGACAAATACACCTCTCTTGGTGTGCAGG
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TAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCGGGGATTACAGGTGCCCGCCACCATACCCAGCTCATTTTTGGATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATTCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCACCCTACCCTATAGCTTTTTAAAAGCTGGACGGGATTAACTGAGATCACACACATAAATTATTTGGCACAGAGCTTAGTATGACAGTTAAAAGTCTGTTAATTCTCTTGTTCTCTCTCTAGGGTTTTCCTGTGAAGCTGCAGAAATGAACTCTCCCCAGTGGGGTTCATTTTCCCAGGGAAGAGGGAACCATTCAGCACCAGATGAGGACATGTACAAGAAGGCAGGGCCTTCTCACCTTGTCAAGGAGCCTGGCTGTGGTCCAAGGTGGAGGGCATTCAACAGCTTTTGCCACACAGATATCATCAAGAATTTTGCGAGTTTCTGGGACACAAATGCAAAAGTTAGGGCAGGAGACATCACACTAGCCAAGTAAAAATGTACATAAAGAGAATAGTGTGGGAAATTCTAGCTCTGACCCAATCAAATTCAGAGCTGAACAGGAAGGAGGGCCTTACAACGGAGGAGTGAGTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTTCGTTTCTGGCAGCTTCATCCCCAGGGCTTTCTCAAGCTCTTCTACCATGTTGATTCGCCGGAAGGGTGGGGTGAAGTCAACATCGTAGGCTTGGCCCTCTGGGCCATCTGGGTGGTAGGTGACCTTGTAACTGCCTGTAATATGCTTCACCATCCCTGGGAGAGAAACCTGTTATTTAGCGGGAATGAAATCCAGGCAGCCCTCCTCTGAAAGCAGCATACCAACCACCCGATGAGTATGAGAGAGAGCAGGAGTCACCTGAAACCATCTTCTCCGTGATTTCCATGAGATCGTGATAGTCTGCATAGGCCATGTAGAACTCACAGGTGGTGAACTCAGGATTGTGCGTCAAATCAATCCCCTCATTCCGGAACTGGCGTCCAATTTCATAAACCCGGTCGATGCCACCAACCACAAGCATCTAACAACAACACATGGCCACGGTCATGACAGCTAATCTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCAAGATCTCAGCTCACCGCAACCTCCGCCTCCTAGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCTGTATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCCATGACAGCTAATCTTGTATTAACAGCTCTGGGAAGTTTCAGTCTCCAAAAGCCGTAACTTGGTTTTCACAGGTTAGGTATACTCTCAGGTCTCTGGTCAAATTGCCAAGCACCCTGCTCTCTTTATACCCTTGTAGTGTGGATAGTTACCCCTTTTTTGGCTGCCTAGGACTTCTCGATACTCTTCCTGTCTTGGGCATCCCCCATCATTGAGTCTGAACCTCCCCAAGGAAGCAGCCTCTCTTGGGGTTAGGCTGCAGGCGTGTGACCCAAGCTCCACCAGTCAGATACACTTGTGAGACTTCAGCATGGAAACTACTAACAAAAGATGTGGGTATTGCATAGAATTCATTCTGGTGAAGGGGGCCAGTCACACGTAGCTTTTAGATTGCAGAGGTCCTAGCGGCAATGACTTGTGCCTAGTGCCAGGATTATGAGCTGTAGTAACTGTGCCTACTAGGAAAATACACTGGGTTCTCCATGAGAACAGCCCATTCTAATATGACTCAGAATCATTCCTAGTTGTATAGTTTCCAAGCCTGATTCTCTGATCCTCCTGGGGACTGTGAGCTTCCTCTATGTTGGGATTCACTCAGGATGGTGGCAGAAATATTAAAGGGAAATATTGGGGAAAGTTATAAGGAATAGTCACAAACCTTTTGGAAGGCCGAAAGGTTACGTAGCTTGTAATAACTGAACAGGCTGAAGGCAGCCAGTTCTTACCGTACAGCATTAGGTCATAGGGTAAATACTACGGAAAATAGAGGCTTCCCCAGTTAAGTCTGTTTACCCTACCTCCATTAACTAACCTTTCAGCCAGATGGCCCTCTTGGGGGGAGGTTGACCAAAGATACTGCTCCCTAATGGTATTTACTTTAGACCATGGTACCTGGACTTTAATAATTCCTAGAACTCCTCTCTTACGATGTTAATTATCCACAAGTGTGTTTACTCAAAGCTTCTGTTGTTAATTCTATACTAAATAAATGCCTGGAGTGAGAGCTGCTCAGGGTCGGCCGCAATGACAAATACACCTCTCTTGGTGTGCAGG
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Task1_train_22926
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The following genetic variant occurs in KARS1 (lysyl-tRNA synthetase 1) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Charcot-Marie-Tooth disease recessive intermediate B
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AAAGTTCCTTTTTTTTTTTTTATTTTACTTTAAGTTCTGGGACACATGTGCAGAACACGCAGATTTGTCATATAGGTATACATGTGCCATGGTGGTTTGCTGTACCTATCAACCTGTCATCTAGGTTTTAAGCTCTGCATGCATTAGGTATTTGTCCTAACCCTGTCCCTCCCCGGTCCCCCCGCCCCTTGACAGGCCCCAGTGTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTTATTGTTCAACTCTCACTTATGAGTGAGTACGTGCCGTGAAAAGCAAAAAATTCTAACTTACTATTCAAAAATGAGCTGAAAGACATGAAGAAAAAGACGCAAAACATGAAAGAACACAAATTAGAACTAGAAAAACTAAGAAATGAGGTGATAACACATGAAAGAATTAGAAATAAAGTAAAAAATCTTTCAGAAAATGCAGACTAAGCTATAAGGAAATAATAGTGACTAAATACAACAAATAATGCCTTAAGAGAAACAGAAAGTGAAAAGGAGGATAAAATTTAAAAATCAAAGTATAAAGAAAGATAAAAAGGATTTGAGATAAAGTGACAATTATCGAAAAGAATCAAGATGATCCAGTATGCAGATAAAAGTCCCAAAGGAAATGTAAAGCAAGAAACAGAATAAAAACAAACAATTAAAATAAAAAAGATCTGCTGGGAGCAGCGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCGTGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAGATACAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTACAGCCTGGGGGACAAGAGCAAGACTTCGCCTCAAAAAAATAAAAATAAAAAAATAAAAAAAAATCTGAATACACAGATGTGAAAAGATCTCAGAGCACACTGTGTATCTGAGAATACTGAACTAGAATAACTAACATCAATAAATATTTTAGTGGCAGGGTGTGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAATATGGCGAAGCCCCATCTCTACTAAAAATACAAAACTTAGCCGGGCGTGGTGGCAGGTGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGGGGCAGAGGTTGCAGTAAGCTGAGATGGCACCACTGCATTCCAGCCTGGGAGACAGAGTGAGACTATATCTCAAAAAAAAAAAAAAAAAAAAAGATTTTAGTAAAATCACTGCACTTTAAAGAAGAAATCTTTTGGGCATTTAGGTCCTGCCAGAAATTCTCTCTGGGTGGTAGGATTATGCGTAATCAAAACCTTCTCTCTGTGCTTCTTTGACTATTCTAAATTTTCTACAACTGATAGTTTTACTATTTGGTGGGAGAGGGCAAGGAAAAGATGTGATTTTTTTTTTTTGTTTTTTAAATTTAGGAAAAGAAGATCTCACCCAAGATACTACAACTCCAAAAGAGCAATGTTCTAGAAATACTGTCTCAGTGCAAAGCATTCTTAGGCCAAAGACTGGAATTCTTAGAAGCCTGAGACTTCTACCGCTGATTCTTGCTGATGAAGGGAATCCTTATAGAGAAAGCCCCTCTCTTTGTAGCACTACCTCATCTGGAATATGATTCCATGTCTCAGGGCTGCTCTGCTTCTTTCTGTATAGATATAATGGCACTGTCCTTAGTAAAGTAGCTTCAGACACAGGCTACTTGAGAACAAGACCAACCCAGACCTTCCCTTGTGCTACTGAAGCCGCAGGCCTACCTGCTGTGGGAGTTCAGTGATTTGCCAGGGAGAGTTCCTACCTGCCACCTTTAAGGTGATGTCAGTCAGGTGATCCCCAGGCTGCAGGTGACTATATTTTTGGATGAAGTCAGTGAGTGAGATGTCTACATGGAACTTGTGTGGGTATGGGTCTTCCCCATTGACCTTCAGCTGATGAATTGCTTGACTGCGGATTTTGTAGTATTGCTGTTAAAAAAAAAAAAAAAAAAGCCCTTCAGAAGTTGAACCTGGTCAGACCAGTGGGGCCCACCTAGCAGAGGGCAGTATTCTGCCCCCGAGTGACCCCAATACATTGTTTTCTTTAACCAAGACCTCTGCATTACAGGATTGAATATGGAGTGAGATTTGCACTTAAAATATGCAGGGCGGCCAGAGGCCAGCATTTCAAAATGCAAGAGTCAACAAAAAGAAAAACCTGAGTTCTGCCTAAAATCATAAAAGTTTAATTTTTAATTGGTACAGGTGGCCTTGTTGTCACTTTTGTAGACCACATTTGCATGGTGAGTCGAGTCACTTACGTTCTTAACTGCTTATGTTCTTAACTACTCTCCTACCTCTGGCGACACATCAGACTTTTCCCCAAGGCATGGGGCCTGGAGAATGTAAACAAGGAATACTCTACAGCAGCCTTTCTCACAAAGCTTTTCTGATGCAACTTCTCAACTCTGCTGTTTCAGGGGGAAAGCAGCCTCAGAAATACGTAAACAAATGAGCACAGCTGTGTTCCAATACAATTTTACTAGTAAAACCAAGGAGGGGCAAGGTGTGGTGGCTCATGCCTGTAATCCTAGTACTCTGGGAGCCCGAGGCGGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATTAACAGGGTGTAGTGGTGTGCGCCTCTAATACCAGTTACTTGGGAGGCTGAGGAAGGAGAATCACTTGAACCGGGGAGGCGGAGGTTGCAGTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAATGAGACTTTGCCTCAAAAAAACAAAAACAAAAACAAAAAACCAGGGAGGGAAGGATAAAGTGGGGGCATGGAGAGTGGGTTTGGCTGGTGGACTGTAGTTGGCCAGCCCCTGGTCTAAAGTAAACCTCAGGCAATCTTTAGAGAGACACTTTCCCTGGGGCCTCAAGGTCAAGCTAATTCCAAGGAAGGTTAATTCACTTGAATGCTGGACTCTCTCAAATGCCTTTTGGGGGTTGACATAAAAAACACTCAGGGTCTGTGCCTTTAACCAGATGCAGTGGGAGACCCTCCCTTATCCCTGGCAGTGACCTCAGGCGTACTGGTCCCTCCTACTGTCCAGTCCCAAAGAATCTGCCAGAAGCCTCATCAGAAGCTTTCCTGTGCCCAACCATGCTGGTGGCCCAGGGAACTCACATTTGGGTCCACGCTCTCTTCCTCAGGACCCACACCATTATCAGTGGTGTGGTTGGTGGCAGCAGCAGTGGCTTGGCTTAGCTGTTTCTCACTGAGCTCTTTCTGTTTGGCCTCCTTCTCTGCTACTTTCTTCTCAGCTTTCAGGCGTCTCTTCAGCTCACTGTTGGAAAGATGAAAGCGTTCAATGTGTTAGCTGCCTGAAGAGTCCTCTATGTTCTGCCCCTAGCAACTTATCAAAAACATGAATCGCCCAGGAGAAACGCTCTTGCTCAGTTCTATACCCCTCAATTCCACACCCACAGCTCAGCTCAAGTAGCTTGTCACTAAACTCTTTATGTGAAAGACACAAAGGGAAAAATAAGCTTAGAACAAAGATGTGAAAAATCACTCTCAGTCTCTGCTTGCCAGTCTCAGGTCCTTGGCATTAGGTCCCAACTAAAACCAAGATGTACCAAGACAAAGAAAATCCTATGCATTAGTTTTGAATAGGAGAAAAGGTTTTCTAGAAAATTAGAATAGGCTTTTCTTGAGCTAATTAGGTTAGGGAGCTCCTTGAGGACAGTGACTGAATCTTAGTTGTTTAGTATCCCCCTAGAAGGTGAAGTTCCAACAGTGCCAGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGAGACAGAGTTTTGCTCTGTGGCCCAGGCTGGAGTGCAGTCACAATCTCAGCTTACTGCAATCTCTGCCTCCCGGGTTTCAAGA
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AAAGTTCCTTTTTTTTTTTTTATTTTACTTTAAGTTCTGGGACACATGTGCAGAACACGCAGATTTGTCATATAGGTATACATGTGCCATGGTGGTTTGCTGTACCTATCAACCTGTCATCTAGGTTTTAAGCTCTGCATGCATTAGGTATTTGTCCTAACCCTGTCCCTCCCCGGTCCCCCCGCCCCTTGACAGGCCCCAGTGTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTTATTGTTCAACTCTCACTTATGAGTGAGTACGTGCCGTGAAAAGCAAAAAATTCTAACTTACTATTCAAAAATGAGCTGAAAGACATGAAGAAAAAGACGCAAAACATGAAAGAACACAAATTAGAACTAGAAAAACTAAGAAATGAGGTGATAACACATGAAAGAATTAGAAATAAAGTAAAAAATCTTTCAGAAAATGCAGACTAAGCTATAAGGAAATAATAGTGACTAAATACAACAAATAATGCCTTAAGAGAAACAGAAAGTGAAAAGGAGGATAAAATTTAAAAATCAAAGTATAAAGAAAGATAAAAAGGATTTGAGATAAAGTGACAATTATCGAAAAGAATCAAGATGATCCAGTATGCAGATAAAAGTCCCAAAGGAAATGTAAAGCAAGAAACAGAATAAAAACAAACAATTAAAATAAAAAAGATCTGCTGGGAGCAGCGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCGTGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAGATACAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTACAGCCTGGGGGACAAGAGCAAGACTTCGCCTCAAAAAAATAAAAATAAAAAAATAAAAAAAAATCTGAATACACAGATGTGAAAAGATCTCAGAGCACACTGTGTATCTGAGAATACTGAACTAGAATAACTAACATCAATAAATATTTTAGTGGCAGGGTGTGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAATATGGCGAAGCCCCATCTCTACTAAAAATACAAAACTTAGCCGGGCGTGGTGGCAGGTGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGGGGCAGAGGTTGCAGTAAGCTGAGATGGCACCACTGCATTCCAGCCTGGGAGACAGAGTGAGACTATATCTCAAAAAAAAAAAAAAAAAAAAAGATTTTAGTAAAATCACTGCACTTTAAAGAAGAAATCTTTTGGGCATTTAGGTCCTGCCAGAAATTCTCTCTGGGTGGTAGGATTATGCGTAATCAAAACCTTCTCTCTGTGCTTCTTTGACTATTCTAAATTTTCTACAACTGATAGTTTTACTATTTGGTGGGAGAGGGCAAGGAAAAGATGTGATTTTTTTTTTTTGTTTTTTAAATTTAGGAAAAGAAGATCTCACCCAAGATACTACAACTCCAAAAGAGCAATGTTCTAGAAATACTGTCTCAGTGCAAAGCATTCTTAGGCCAAAGACTGGAATTCTTAGAAGCCTGAGACTTCTACCGCTGATTCTTGCTGATGAAGGGAATCCTTATAGAGAAAGCCCCTCTCTTTGTAGCACTACCTCATCTGGAATATGATTCCATGTCTCAGGGCTGCTCTGCTTCTTTCTGTATAGATATAATGGCACTGTCCTTAGTAAAGTAGCTTCAGACACAGGCTACTTGAGAACAAGACCAACCCAGACCTTCCCTTGTGCTACTGAAGCCGCAGGCCTACCTGCTGTGGGAGTTCAGTGATTTGCCAGGGAGAGTTCCTACCTGCCACCTTTAAGGTGATGTCAGTCAGGTGATCCCCAGGCTGCAGGTGACTATATTTTTGGATGAAGTCAGTGTGTGAGATGTCTACATGGAACTTGTGTGGGTATGGGTCTTCCCCATTGACCTTCAGCTGATGAATTGCTTGACTGCGGATTTTGTAGTATTGCTGTTAAAAAAAAAAAAAAAAAAGCCCTTCAGAAGTTGAACCTGGTCAGACCAGTGGGGCCCACCTAGCAGAGGGCAGTATTCTGCCCCCGAGTGACCCCAATACATTGTTTTCTTTAACCAAGACCTCTGCATTACAGGATTGAATATGGAGTGAGATTTGCACTTAAAATATGCAGGGCGGCCAGAGGCCAGCATTTCAAAATGCAAGAGTCAACAAAAAGAAAAACCTGAGTTCTGCCTAAAATCATAAAAGTTTAATTTTTAATTGGTACAGGTGGCCTTGTTGTCACTTTTGTAGACCACATTTGCATGGTGAGTCGAGTCACTTACGTTCTTAACTGCTTATGTTCTTAACTACTCTCCTACCTCTGGCGACACATCAGACTTTTCCCCAAGGCATGGGGCCTGGAGAATGTAAACAAGGAATACTCTACAGCAGCCTTTCTCACAAAGCTTTTCTGATGCAACTTCTCAACTCTGCTGTTTCAGGGGGAAAGCAGCCTCAGAAATACGTAAACAAATGAGCACAGCTGTGTTCCAATACAATTTTACTAGTAAAACCAAGGAGGGGCAAGGTGTGGTGGCTCATGCCTGTAATCCTAGTACTCTGGGAGCCCGAGGCGGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATTAACAGGGTGTAGTGGTGTGCGCCTCTAATACCAGTTACTTGGGAGGCTGAGGAAGGAGAATCACTTGAACCGGGGAGGCGGAGGTTGCAGTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAATGAGACTTTGCCTCAAAAAAACAAAAACAAAAACAAAAAACCAGGGAGGGAAGGATAAAGTGGGGGCATGGAGAGTGGGTTTGGCTGGTGGACTGTAGTTGGCCAGCCCCTGGTCTAAAGTAAACCTCAGGCAATCTTTAGAGAGACACTTTCCCTGGGGCCTCAAGGTCAAGCTAATTCCAAGGAAGGTTAATTCACTTGAATGCTGGACTCTCTCAAATGCCTTTTGGGGGTTGACATAAAAAACACTCAGGGTCTGTGCCTTTAACCAGATGCAGTGGGAGACCCTCCCTTATCCCTGGCAGTGACCTCAGGCGTACTGGTCCCTCCTACTGTCCAGTCCCAAAGAATCTGCCAGAAGCCTCATCAGAAGCTTTCCTGTGCCCAACCATGCTGGTGGCCCAGGGAACTCACATTTGGGTCCACGCTCTCTTCCTCAGGACCCACACCATTATCAGTGGTGTGGTTGGTGGCAGCAGCAGTGGCTTGGCTTAGCTGTTTCTCACTGAGCTCTTTCTGTTTGGCCTCCTTCTCTGCTACTTTCTTCTCAGCTTTCAGGCGTCTCTTCAGCTCACTGTTGGAAAGATGAAAGCGTTCAATGTGTTAGCTGCCTGAAGAGTCCTCTATGTTCTGCCCCTAGCAACTTATCAAAAACATGAATCGCCCAGGAGAAACGCTCTTGCTCAGTTCTATACCCCTCAATTCCACACCCACAGCTCAGCTCAAGTAGCTTGTCACTAAACTCTTTATGTGAAAGACACAAAGGGAAAAATAAGCTTAGAACAAAGATGTGAAAAATCACTCTCAGTCTCTGCTTGCCAGTCTCAGGTCCTTGGCATTAGGTCCCAACTAAAACCAAGATGTACCAAGACAAAGAAAATCCTATGCATTAGTTTTGAATAGGAGAAAAGGTTTTCTAGAAAATTAGAATAGGCTTTTCTTGAGCTAATTAGGTTAGGGAGCTCCTTGAGGACAGTGACTGAATCTTAGTTGTTTAGTATCCCCCTAGAAGGTGAAGTTCCAACAGTGCCAGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGAGACAGAGTTTTGCTCTGTGGCCCAGGCTGGAGTGCAGTCACAATCTCAGCTTACTGCAATCTCTGCCTCCCGGGTTTCAAGA
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Task1_train_22927
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Consider this mutation in ADAMTS18 (ADAM metallopeptidase with thrombospondin type 1 motif 18) on Chromosome 16. Is this a benign change or a disease-causing variant?
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Pathogenic; Microcornea-myopic chorioretinal atrophy
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AATAGTATAATATAGTATACTATTATACTATATTATATATAGTATATTAGTATATTAATAGTATAATATATAGTGTCCTATATACTAAATATAAATACTGTAATATATAGTGTCATATATACTATATATAATATAGTGTCATATATGCTATATATAATATACAGTGCAATATATGCTATATATAATATACAGTGCAATATATGCTATATATAATATACAGTGCTATATATGCTATATATAATATACAGTGTTATATATTATATATAATATATAGTGTTATATATTATATATAATATATAGTGTTATATATTATATATAATATACAGTGTTATATATTATATATAATATATAGTGTTATATATTACATATAATATACAGTGTTATATATTATATATAATATATAGTGTTATATATTACATATAATATATAGTGTTATATATTATATATAATATATAGTATATATGCTATATATAATATAAAGTATAAATAATACTACATATATTATACTATTATATATACTACATATTTATATTATATATAGTATATATATTATATATATACTGTATATTATAGTATATATTATATAGTATATATACTGTATATTATAGTATATATTATATAGTATATATACTGTATATTATAGTATATATTATATAGTATATATACTGTATATTATAGTATATATTATATAGTATATATACTGGATATTATAGTATATATTATATAGTAGTATATATAGTATATATTATAGTATATAGTATATATATACTACTATAGTATATAGTATATATACTATAGTATATAGTGTATATACACTATATACTGTATATAGTGCATATACTATAGTATATATATATAGTATATATATACTGTATACTATAGTATACTACTATATACTATAGTATATATACTGTATACTATAGTATACAGTATATATACTATAGTATACAGTAAATATACTATATACTATAGTATACAGTATATATACTATATACTATAGTATACAGTATATATAATATACTATAATGTACAGTATATGCACTATATATTATAATATACAGTATATATACTGTACATTATAGTATATAGTATATATACTGTATTTTATAGTATATAGTAGTATATATACTGTATATTATAGTATATAGTAGTATATATACTGTATATTAATAGTATATAGTAGTATATATACTATATATTAATAGTAATTATATATAATGTAGTATAATAGTATTATTTGAATTAATGGTATTCAGCCTATTATGATAGTATTAATCCTACTTAATACTATGAATCCTATTTAATACTATTCAGCCATTATAAAAATGAAATCCTGTTATTTGCAGCAACATGAATGGAACTGGAGGACATCATATTAAGTGAAATAAGCCAAATGGAGAAAGACAAATATTGTATCTTCTCCCATGTGAGAGCTAAAAAAAAAAAAAAAAATTGAACTCACAGAGCTAGAGCTAGAGAGTGCATTGACAGAGCTGGGAAGGGTAGTGGGGAGGGAGAATGGTAATGTCAGCATGGTTAATGGGTACAAAAATATAGTTAGAATGAGTAAGATCTAGTATTCAGTAGCACAAATAGGGTGACTATAGTTAACAATTCATTGTATATCTTAAAATAACTAAAACAGTGGAATGGGCCTAATAAAGAAATGACATTGGAATTTTTTTAATAAAGAAACAATAAAGGCTTGAAGTGATGGATACCTCATTATGCTGATTTGATCATTCCACATTGTATAGTTGTATCAACACATCACATGTACCCCATAAATATGTATAACCATTATGTAGCCATAATAATTAAAAATAAAAAAATAAACTTAAAGTATGAACAAGAAAAACCAGCGTGTTACAGGCTGAAGGTTAAGGCCTTGCAAAGACTAACTTTCTGCTGGAGGCTTACTTGGGGTTATTGCAGTGTCTCTCCTGGAACTTGACTCCTCCACCACATGTCCGGGAACATTCTGACCACTTCGACCAGGCGGACCACTGGCCGTGGATGGGCCGGGGCCCGAGCTCCCCAAACTTTACGCACTGGCCTTGCCGACACCACTGTGAAAAGAACGTGTAAGATGGTTCCCGTCAGAGACCACCTGGGAAAGCGCAGGGAGTTGCCAACACCTGCACAGTAACAGGAAAAACAGGTCTGTTGGGAGAAAAGGAAAATGCCTGATACCTTGATAAATTCCTCTGCTGTGCTCTAAAAACACTCAACTACTCTGCATTGACCACATCCATTTTGAAAGGCTGACATCTAGAGAGAAGTGGCATTGTTCACCAACAGGCTGAGTATGATAGGCTTTGTGAACTGTGGAGGTGACATGTTCAGATAAGATTCCACCTAACAGCCAAGGGAGTCAGTATAAAGTTACAAGGAAGCCTGCCTTGCCACTGAGAGACAACACTACTTAAAGAACAATTCGGATCACTCATTCAGGAAGAAACAGTTAAGATATTAACACAATTTATCATTCTGAAAGAACAATTGGGATCACTCATTCATGAAGTAACAGTTAAGATATTAACACGATTTATCATTCTGAATGATTATCTTATCATAAAATAGATACAATTACACATACATTATATTTTTGCTTATTCCAAACCCGTCACTATAGAGCATTTCTTACAAAGCTGAACAACTCAGTCTGTACAAATTGTTCTCTTCAGATAGCATCCTTTTTCCTTTGTCTACATAAAAGGTGCCCACTTCAGATGCTCTGATGACTTTGAGCTCTTGCAGTGTCTTTGATGAATTAGCCCAGGGTCTTTCATTTGCCCATGATCTGTACAAGCTAGATGGAGAGCTTTTTTCTGTATTAACCTTTCCATTTTAGTTCTCCTTTTTGTAACAAATTCCTGGCTTTGCTGGTCATCTCTCCCTAGGGGATGCATTAGCCTCTGGTAGTGTTTCTTTTGTTTTTGTTTTATTTTTTGTTTTTGTTGCCTACCCCCAATCCCCAACCCCTGCAGTGCTTTGATTATGAGAAAGTTCTGCATGACTTAGCATAACTGCTCTTTTCTAAAAGCCTCTGCAATTAGATCCAAAGGGTTGGGGTTTGGACCATGCCAGGTTTTGCTGAGGAATTGGGGGATCGGTTACAGAATTATGGGAAGGTTGTTTGACTTTCAAATCTTCACTTATCCCCTGCGATACATTTGGCTTCATGACTGTTTACTGTGTGGCTTGGTTGCTAGCGCACTCTATCTAGGTTAAGATATTGCTTCCTTTCTTCAAATTCTTGCCATGTGCTGATTAATTCTTCTGTTTTTAATTTTTCTTTTCCCTGGATTAATTGCCATTTCAGAGTTTGCATGAAACCATATAACACTATTGAGAAGTTTTTGGGGAAGGCTATCGGTCATTTGAGGATTTTGCCTACCATAAGCATGCATCTTTTCTACCGGGAATCACGAGGACTCTACTGGACTGAGTTCAGTGGCTGAGACAAAATTACAATAGCCAATAACAGTAACAGCAGCAGCAGCCACAGGTTATCAAGCTGCTTCTATGTGCCAAAAATGATGCAGAGAGCTTCACATGCAGTATCTCATCTAATCCTTGCAAAGCACTGAATTAAAAGCCGTTTTCCTCAGTAGGAGAAATTTAGCAAAGAAATACTAGCTAACTTGCTCAGAGTGACACAAACTACCCAAACAGATCTATTCAAATAACTATGCAAGTATAAGAGACTGGATTTAACTCAGTAGCCAGAACTCCTAAGCAGGACACTTCTACTTCTCATCTTGGAGGCAAATTACTGACCAATGTACCTTAATTCTAATCTAATTTCTTTTTGGAAAATGTGTTTTTTAGATCTCTTCCAGTCATTCAATTAACTTGATGTTCTATTACTTCAGTATTTGTTCTAGTATTACGTTAGGCTGCTATCACACTGTCTCCATTTGGCCTTTTAATCAGTGTAGAAATCAGGAATATAAAGGAATGTACACACAGACCTGCACACATTCACATGAATAGGTAAAATTCTACATAGAAAATGCAAATTTAGAATATATACACCTGTAATTTTATCCATCTTTTCTTTTCTTTTCTTTTTTTTTTTTTTGACAAAGTT
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AATAGTATAATATAGTATACTATTATACTATATTATATATAGTATATTAGTATATTAATAGTATAATATATAGTGTCCTATATACTAAATATAAATACTGTAATATATAGTGTCATATATACTATATATAATATAGTGTCATATATGCTATATATAATATACAGTGCAATATATGCTATATATAATATACAGTGCAATATATGCTATATATAATATACAGTGCTATATATGCTATATATAATATACAGTGTTATATATTATATATAATATATAGTGTTATATATTATATATAATATATAGTGTTATATATTATATATAATATACAGTGTTATATATTATATATAATATATAGTGTTATATATTACATATAATATACAGTGTTATATATTATATATAATATATAGTGTTATATATTACATATAATATATAGTGTTATATATTATATATAATATATAGTATATATGCTATATATAATATAAAGTATAAATAATACTACATATATTATACTATTATATATACTACATATTTATATTATATATAGTATATATATTATATATATACTGTATATTATAGTATATATTATATAGTATATATACTGTATATTATAGTATATATTATATAGTATATATACTGTATATTATAGTATATATTATATAGTATATATACTGTATATTATAGTATATATTATATAGTATATATACTGGATATTATAGTATATATTATATAGTAGTATATATAGTATATATTATAGTATATAGTATATATATACTACTATAGTATATAGTATATATACTATAGTATATAGTGTATATACACTATATACTGTATATAGTGCATATACTATAGTATATATATATAGTATATATATACTGTATACTATAGTATACTACTATATACTATAGTATATATACTGTATACTATAGTATACAGTATATATACTATAGTATACAGTAAATATACTATATACTATAGTATACAGTATATATACTATATACTATAGTATACAGTATATATAATATACTATAATGTACAGTATATGCACTATATATTATAATATACAGTATATATACTGTACATTATAGTATATAGTATATATACTGTATTTTATAGTATATAGTAGTATATATACTGTATATTATAGTATATAGTAGTATATATACTGTATATTAATAGTATATAGTAGTATATATACTATATATTAATAGTAATTATATATAATGTAGTATAATAGTATTATTTGAATTAATGGTATTCAGCCTATTATGATAGTATTAATCCTACTTAATACTATGAATCCTATTTAATACTATTCAGCCATTATAAAAATGAAATCCTGTTATTTGCAGCAACATGAATGGAACTGGAGGACATCATATTAAGTGAAATAAGCCAAATGGAGAAAGACAAATATTGTATCTTCTCCCATGTGAGAGCTAAAAAAAAAAAAAAAAATTGAACTCACAGAGCTAGAGCTAGAGAGTGCATTGACAGAGCTGGGAAGGGTAGTGGGGAGGGAGAATGGTAATGTCAGCATGGTTAATGGGTACAAAAATATAGTTAGAATGAGTAAGATCTAGTATTCAGTAGCACAAATAGGGTGACTATAGTTAACAATTCATTGTATATCTTAAAATAACTAAAACAGTGGAATGGGCCTAATAAAGAAATGACATTGGAATTTTTTTAATAAAGAAACAATAAAGGCTTGAAGTGATGGATACCTCATTATGCTGATTTGATCATTCCACATTGTATAGTTGTATCAACACATCACATGTACCCCATAAATATGTATAACCATTATGTAGCCATAATAATTAAAAATAAAAAAATAAACTTAAAGTATGAACAAGAAAAACCAGCGTGTTACAGGCTGAAGGTTAAGGCCTTGCAAAGACTAACTTTCTGCTGGAGGCTTACTTGGGGTTATTGCAGTGTCTCTCCTGGAACTTGACTCCTCCACCACATGTCCGGGAACATTCTGACCACTTCGACCAGGCGGACCACTGGCCGTGGATGGGCCGGGGCCCGAGCTCCCCAAACTTTACCCACTGGCCTTGCCGACACCACTGTGAAAAGAACGTGTAAGATGGTTCCCGTCAGAGACCACCTGGGAAAGCGCAGGGAGTTGCCAACACCTGCACAGTAACAGGAAAAACAGGTCTGTTGGGAGAAAAGGAAAATGCCTGATACCTTGATAAATTCCTCTGCTGTGCTCTAAAAACACTCAACTACTCTGCATTGACCACATCCATTTTGAAAGGCTGACATCTAGAGAGAAGTGGCATTGTTCACCAACAGGCTGAGTATGATAGGCTTTGTGAACTGTGGAGGTGACATGTTCAGATAAGATTCCACCTAACAGCCAAGGGAGTCAGTATAAAGTTACAAGGAAGCCTGCCTTGCCACTGAGAGACAACACTACTTAAAGAACAATTCGGATCACTCATTCAGGAAGAAACAGTTAAGATATTAACACAATTTATCATTCTGAAAGAACAATTGGGATCACTCATTCATGAAGTAACAGTTAAGATATTAACACGATTTATCATTCTGAATGATTATCTTATCATAAAATAGATACAATTACACATACATTATATTTTTGCTTATTCCAAACCCGTCACTATAGAGCATTTCTTACAAAGCTGAACAACTCAGTCTGTACAAATTGTTCTCTTCAGATAGCATCCTTTTTCCTTTGTCTACATAAAAGGTGCCCACTTCAGATGCTCTGATGACTTTGAGCTCTTGCAGTGTCTTTGATGAATTAGCCCAGGGTCTTTCATTTGCCCATGATCTGTACAAGCTAGATGGAGAGCTTTTTTCTGTATTAACCTTTCCATTTTAGTTCTCCTTTTTGTAACAAATTCCTGGCTTTGCTGGTCATCTCTCCCTAGGGGATGCATTAGCCTCTGGTAGTGTTTCTTTTGTTTTTGTTTTATTTTTTGTTTTTGTTGCCTACCCCCAATCCCCAACCCCTGCAGTGCTTTGATTATGAGAAAGTTCTGCATGACTTAGCATAACTGCTCTTTTCTAAAAGCCTCTGCAATTAGATCCAAAGGGTTGGGGTTTGGACCATGCCAGGTTTTGCTGAGGAATTGGGGGATCGGTTACAGAATTATGGGAAGGTTGTTTGACTTTCAAATCTTCACTTATCCCCTGCGATACATTTGGCTTCATGACTGTTTACTGTGTGGCTTGGTTGCTAGCGCACTCTATCTAGGTTAAGATATTGCTTCCTTTCTTCAAATTCTTGCCATGTGCTGATTAATTCTTCTGTTTTTAATTTTTCTTTTCCCTGGATTAATTGCCATTTCAGAGTTTGCATGAAACCATATAACACTATTGAGAAGTTTTTGGGGAAGGCTATCGGTCATTTGAGGATTTTGCCTACCATAAGCATGCATCTTTTCTACCGGGAATCACGAGGACTCTACTGGACTGAGTTCAGTGGCTGAGACAAAATTACAATAGCCAATAACAGTAACAGCAGCAGCAGCCACAGGTTATCAAGCTGCTTCTATGTGCCAAAAATGATGCAGAGAGCTTCACATGCAGTATCTCATCTAATCCTTGCAAAGCACTGAATTAAAAGCCGTTTTCCTCAGTAGGAGAAATTTAGCAAAGAAATACTAGCTAACTTGCTCAGAGTGACACAAACTACCCAAACAGATCTATTCAAATAACTATGCAAGTATAAGAGACTGGATTTAACTCAGTAGCCAGAACTCCTAAGCAGGACACTTCTACTTCTCATCTTGGAGGCAAATTACTGACCAATGTACCTTAATTCTAATCTAATTTCTTTTTGGAAAATGTGTTTTTTAGATCTCTTCCAGTCATTCAATTAACTTGATGTTCTATTACTTCAGTATTTGTTCTAGTATTACGTTAGGCTGCTATCACACTGTCTCCATTTGGCCTTTTAATCAGTGTAGAAATCAGGAATATAAAGGAATGTACACACAGACCTGCACACATTCACATGAATAGGTAAAATTCTACATAGAAAATGCAAATTTAGAATATATACACCTGTAATTTTATCCATCTTTTCTTTTCTTTTCTTTTTTTTTTTTTTGACAAAGTT
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Task1_train_22928
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This variant lies on Chromosome 16 and affects the gene ADAMTS18 (ADAM metallopeptidase with thrombospondin type 1 motif 18). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; not provided
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ATAACTGGCAAAGGGTGCGCACCAAGTTAACAGAATGGATACTGGCCATAGCCATTGAGCAGAGACCTAGAAGTGCCTGCTCGGCCAGACATGATGCCTTTAGTTAATGGACAGCCACAACTACGAGCATTCCTGGGAAGAAAAATGGCACCTGGAAAGCTCAGGGAAGTAACTGTGTACTAACTAGTACAGAAATAGTTTAGTACTGTAACACTGGTCCAGCCGTAATAGTGAAACTAGCTCCCTACAGAGTAAAATTAAAAGATAAAATTATTTAGAGTTAGATTTAAAAACTCAGGTTGGCCACTTATGAGCACAGTGACGTTGAGCCTCAGTTTCCTTATCTATGAAAACAGGTGACACTTGTTTATAAGGTTGTTGTAAAGATTTGCTTTGATGTCTCATATCAAACATGTCTTACCACTATAAACATCATTACTATCATTAATACAGGCTAAATCATTACTCTATATATGCTAAATGGATGCCCCTTAATGGGGATATTTCAATAATACCAAAAACTCAAAAACCAGTTAAAATGGTAGAAACTCTTTCATTATTCCTCCTGATTAATATCTTAGTGATACCAGTTCCTCTTCTCCATGAGAATAAACTTCTTCTGGCTGTGGTATCCAACTTGGCGCACAGTTTCCATGCACAGCTACTGAGCCACAGAAGAATTTAAAAGTTTAAAAAGCAATACTTGATTCAGCTATTGAAAATCTTTTGGCTGGGCGCAGTGGCTCATGCCTTTAATGCTAACAATTGGGAGACCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTTGGCGTGCTGGCGTGCGCCTATAATTCCACCTAGTAGGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGTGGGGTGGAGGTTGCAGTGAGCAGAGATCGCGCCACTTCACTCCAGCCTGGGCGAAAGAGTGAAACTGTCTCAAACAAAACAAAACAAAAACAAAAACAAAAAAACAAGCAAAAAGAAAATGTTTTAAATGTTTTAAGTATGTCCCAAACAACTTGAGTATGTAAATCTACTTTTTTGACCTTAATTTTATACAAGTTAAATGCAGATTAAGTATTTCCAATAAAAATTTATCATCTGAATCGACTGGTTTAAGTGCTGTAAGTTTAAAATAAACGCTGGATTTCCAAAACTTAACAGGAAAAAATAATGTAACTCTCTAATAATTTGTTATCCTGATTACATGTTGAGATAATATTTTGTACATGTTGGGTTAAATAAAATGTTATTAAAATTCATTTACCCTTTTTTTTAACTTTTAAAACTTGTGGCTATTAGAAAATGTAAAATTGTATTTAAGGCTCGTGTTACATTTCTATTGGACATCGCTGGTCTGGAAACGGCCGAAGGTTGTAACTAAGTCACAAACCATGCTCAAGGATACCTGTGTTTCACAGCTACCTCCCTCACATGCTAATGTTCTTGTTTCTGGAAGTCTCTCCTTTGTGTCCTCAAAGGAGACATCCAACCACACCTAGACATTTACCTCTGTCTTCTTTTGTCATTGGAAATCTAGGTACTTTTCTCGGAAGCACAGAAATCAAGACTGGGACCTATGGCATGAAAGTAGGAGATACTAAAAGAGTAAAAAAGAAACCTTATCTAAATCTTTCCTAGTTTAACCTAGAATAATTGATCATCCAGCATTTGCCTGAGAGAGATAATTACTGGTCCTACACCAAGACAGATGCTCAGGGTAGCCCCATTTTGACTTGCAAAGCTTGTACACCCAACAGCACTCAGGAAAACCTGTCGAGGCCCACATAAGAACAGAAAAAGAAAAAGTTTCCTTACATACATTTCTTGCGTCGTCCACAAAAATGCTGCTTTTGCAACCTTCGATGGTGATACTCTGTCTCTCGACTCTGAGATGCATGGGGAATGTGACTTGGGGAGTAACCAGGATAATTCCGGCCAGAGCCGGGGTAGCCACGGTACCGCTGGATCTTCTCCTCTGCTGTCCTTTTGTACAGTACGTGAGGATGGTGACCCGCAGGGGAGCTGTAGTTGTGTTCCTGGGCCAGAAGCTGAGGTAATGGCGAGATGAGGAATTCATTTTTTCGTGTCCTTATTAAACCTGACTAAAAAGCCAAACACAAAGCAAACAGTCATGATTCCATGCATCCCTGTGCCAAGGGTTGGTTTTCAACAACTGCTTCTGACTAATTCCTGTATGTGGGCACAGGAGCTAAAAGCTTCACACATATTGCCTCATTTTTATCTGCACCATTACAACGAGTTGCTATTATTATTGAGACAGGTCTCACTTTAAAACCAAAGCTGGAGAGCAGTGGCACAAACATGGCCCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCCAGCTCAGCCTCTGGAGTAGCTGAGACTACAGGCACGTGCTACCACGGCCAAATCACTTTTACACTTTTTATAGAAACAGGGTCAATGTGGCCCAAGCTGGTTTTGAACTCTTGGCCTCCCAAAATGCTGGGACTACAGGTATGAGTCACCGTACCTGGCTGGACAAGTTGCTATTATCACCACCCCCATTTACAAAGGAGAAAATTGAAGCTAAGATAGTAAGTAGGAAAGCTAGCATGGGCACCCAGAGTTCTCTACTTTCAGAGGCAGGGCTCACAACCACTGGGCTGCCAGCCCTGATGTTTGTGCCTGAAGGGCTGAGCCATGGACATTCTGCTGCATTGCATTTATGACCTGGCAGATGCCATGTTCACCACTGGATAGAGTGATGAATATAAAAATACCCCCACTCATTCTCAAGTGGTTCACACTTGATTTTTCTTTTTTTCTTTTTTTTTTTTTTTTTGAGATTAGGTTTCATTCTGTCCCTTAGGTTGGAGTACAATAGCACTATCATGGCTCACTGTAGCCTTGACCTACTGGTCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTACACACCACTATGCTCAGAAATGCGGTCTATATTGCCCAGGCTCGTCTCAAACTCCTGGCTTCAAGTGATCCTCCTACCTCAGCCTCCTAAAGTGCTCAGATTACAGGTGTGAGCCACCAGTTCTGGCCCATCTTGATTCACAGTTGCTAAATCAATGTTTTTAAAAAAAATCAGCAAGGATGGCAGAGAAAGGCATGAGTGATGTGATCTCTAAGTGGGGGTCTAGAGAATCTGATGAGTGGTGCTATAATGAAGAGACATATTTACCAAATCAAGAAGAAAGGGGAGACCCTGGGAAGCCCATTTAATCACAATTTCATTTACCAAGTTGATGGCACAGTATGGATATCTTCGTACCTGATTTTGCAGCCAAGATGCACCCTTGTCTTTCTTTCAGCAAATGTTGTACTCTATCTTCTCTAGATATCAGAGTTCCCTGATACCCAAGACCCTGCTGGGGAAAGTGTAATCTGCAGACTAGTAGCTTCAGCCTCACCCAGGAACCTGTGGGATTCAGAATCGTGGGCCTCACCCCAAACCTGCTGGATCAAAGTCTATGCTTTATTGATATCCTCACATGTTTATGGGATCCTTTTTATTTCTGTGGTATCAGTTATGTCACATTTTTCATTTCTGACTTTATTTTAATCTTTTTTTCATAGTCTAAGCTAAAGATTTGTCAATTTTATCTTTTTAAAAAACCAACTTTTTGTTTCATGAACTTTTACATTCTTTTTTCAGTCTAAATTTCATTTATTACTGCTTGGATCTTTATTATTTCTTTCCTTTAATTAATTTTGGGTTTAGTTTGTTGTTATTTTTCAAATTCCTTGAGGTGCAATATTAAGTTGGGTTATTTTTGGGATCTAATTTTGGATGTAGGTGGTTAACGCCAATGAATTTGAAAACTAAGAAAGAACAGAGAAATCCTGGACAAACACAGTCTACCAAAACTGAAACATGAAGAAACAGAAAATCTGAACAAACCAATAACGAGTTAAGGAGATTTAATCTGTAATAAAAAGTCTCCCATCAAAGAAAAGCCCAGGGCCAGATGGCTTC
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ATAACTGGCAAAGGGTGCGCACCAAGTTAACAGAATGGATACTGGCCATAGCCATTGAGCAGAGACCTAGAAGTGCCTGCTCGGCCAGACATGATGCCTTTAGTTAATGGACAGCCACAACTACGAGCATTCCTGGGAAGAAAAATGGCACCTGGAAAGCTCAGGGAAGTAACTGTGTACTAACTAGTACAGAAATAGTTTAGTACTGTAACACTGGTCCAGCCGTAATAGTGAAACTAGCTCCCTACAGAGTAAAATTAAAAGATAAAATTATTTAGAGTTAGATTTAAAAACTCAGGTTGGCCACTTATGAGCACAGTGACGTTGAGCCTCAGTTTCCTTATCTATGAAAACAGGTGACACTTGTTTATAAGGTTGTTGTAAAGATTTGCTTTGATGTCTCATATCAAACATGTCTTACCACTATAAACATCATTACTATCATTAATACAGGCTAAATCATTACTCTATATATGCTAAATGGATGCCCCTTAATGGGGATATTTCAATAATACCAAAAACTCAAAAACCAGTTAAAATGGTAGAAACTCTTTCATTATTCCTCCTGATTAATATCTTAGTGATACCAGTTCCTCTTCTCCATGAGAATAAACTTCTTCTGGCTGTGGTATCCAACTTGGCGCACAGTTTCCATGCACAGCTACTGAGCCACAGAAGAATTTAAAAGTTTAAAAAGCAATACTTGATTCAGCTATTGAAAATCTTTTGGCTGGGCGCAGTGGCTCATGCCTTTAATGCTAACAATTGGGAGACCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTTGGCGTGCTGGCGTGCGCCTATAATTCCACCTAGTAGGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGTGGGGTGGAGGTTGCAGTGAGCAGAGATCGCGCCACTTCACTCCAGCCTGGGCGAAAGAGTGAAACTGTCTCAAACAAAACAAAACAAAAACAAAAACAAAAAAACAAGCAAAAAGAAAATGTTTTAAATGTTTTAAGTATGTCCCAAACAACTTGAGTATGTAAATCTACTTTTTTGACCTTAATTTTATACAAGTTAAATGCAGATTAAGTATTTCCAATAAAAATTTATCATCTGAATCGACTGGTTTAAGTGCTGTAAGTTTAAAATAAACGCTGGATTTCCAAAACTTAACAGGAAAAAATAATGTAACTCTCTAATAATTTGTTATCCTGATTACATGTTGAGATAATATTTTGTACATGTTGGGTTAAATAAAATGTTATTAAAATTCATTTACCCTTTTTTTTAACTTTTAAAACTTGTGGCTATTAGAAAATGTAAAATTGTATTTAAGGCTCGTGTTACATTTCTATTGGACATCGCTGGTCTGGAAACGGCCGAAGGTTGTAACTAAGTCACAAACCATGCTCAAGGATACCTGTGTTTCACAGCTACCTCCCTCACATGCTAATGTTCTTGTTTCTGGAAGTCTCTCCTTTGTGTCCTCAAAGGAGACATCCAACCACACCTAGACATTTACCTCTGTCTTCTTTTGTCATTGGAAATCTAGGTACTTTTCTCGGAAGCACAGAAATCAAGACTGGGACCTATGGCATGAAAGTAGGAGATACTAAAAGAGTAAAAAAGAAACCTTATCTAAATCTTTCCTAGTTTAACCTAGAATAATTGATCATCCAGCATTTGCCTGAGAGAGATAATTACTGGTCCTACACCAAGACAGATGCTCAGGGTAGCCCCATTTTGACTTGCAAAGCTTGTACACCCAACAGCACTCAGGAAAACCTGTCGAGGCCCACATAAGAACAGAAAAAGAAAAAGTTTCCTTACATACATTTCTTGCGTCGTCCACAAAAATGCTGCTTTTGCAACCTTCGATGGTGATACTCTGTCTCTCGACTCTGAGATGCATGGGGAATGTGACTTGGGGAGTAACCAGGATAATTCCGGCCAGAGCCGGGGTAGCCACGGTACCGCTGGATCTTCTCCTATGCTGTCCTTTTGTACAGTACGTGAGGATGGTGACCCGCAGGGGAGCTGTAGTTGTGTTCCTGGGCCAGAAGCTGAGGTAATGGCGAGATGAGGAATTCATTTTTTCGTGTCCTTATTAAACCTGACTAAAAAGCCAAACACAAAGCAAACAGTCATGATTCCATGCATCCCTGTGCCAAGGGTTGGTTTTCAACAACTGCTTCTGACTAATTCCTGTATGTGGGCACAGGAGCTAAAAGCTTCACACATATTGCCTCATTTTTATCTGCACCATTACAACGAGTTGCTATTATTATTGAGACAGGTCTCACTTTAAAACCAAAGCTGGAGAGCAGTGGCACAAACATGGCCCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCCAGCTCAGCCTCTGGAGTAGCTGAGACTACAGGCACGTGCTACCACGGCCAAATCACTTTTACACTTTTTATAGAAACAGGGTCAATGTGGCCCAAGCTGGTTTTGAACTCTTGGCCTCCCAAAATGCTGGGACTACAGGTATGAGTCACCGTACCTGGCTGGACAAGTTGCTATTATCACCACCCCCATTTACAAAGGAGAAAATTGAAGCTAAGATAGTAAGTAGGAAAGCTAGCATGGGCACCCAGAGTTCTCTACTTTCAGAGGCAGGGCTCACAACCACTGGGCTGCCAGCCCTGATGTTTGTGCCTGAAGGGCTGAGCCATGGACATTCTGCTGCATTGCATTTATGACCTGGCAGATGCCATGTTCACCACTGGATAGAGTGATGAATATAAAAATACCCCCACTCATTCTCAAGTGGTTCACACTTGATTTTTCTTTTTTTCTTTTTTTTTTTTTTTTTGAGATTAGGTTTCATTCTGTCCCTTAGGTTGGAGTACAATAGCACTATCATGGCTCACTGTAGCCTTGACCTACTGGTCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTACACACCACTATGCTCAGAAATGCGGTCTATATTGCCCAGGCTCGTCTCAAACTCCTGGCTTCAAGTGATCCTCCTACCTCAGCCTCCTAAAGTGCTCAGATTACAGGTGTGAGCCACCAGTTCTGGCCCATCTTGATTCACAGTTGCTAAATCAATGTTTTTAAAAAAAATCAGCAAGGATGGCAGAGAAAGGCATGAGTGATGTGATCTCTAAGTGGGGGTCTAGAGAATCTGATGAGTGGTGCTATAATGAAGAGACATATTTACCAAATCAAGAAGAAAGGGGAGACCCTGGGAAGCCCATTTAATCACAATTTCATTTACCAAGTTGATGGCACAGTATGGATATCTTCGTACCTGATTTTGCAGCCAAGATGCACCCTTGTCTTTCTTTCAGCAAATGTTGTACTCTATCTTCTCTAGATATCAGAGTTCCCTGATACCCAAGACCCTGCTGGGGAAAGTGTAATCTGCAGACTAGTAGCTTCAGCCTCACCCAGGAACCTGTGGGATTCAGAATCGTGGGCCTCACCCCAAACCTGCTGGATCAAAGTCTATGCTTTATTGATATCCTCACATGTTTATGGGATCCTTTTTATTTCTGTGGTATCAGTTATGTCACATTTTTCATTTCTGACTTTATTTTAATCTTTTTTTCATAGTCTAAGCTAAAGATTTGTCAATTTTATCTTTTTAAAAAACCAACTTTTTGTTTCATGAACTTTTACATTCTTTTTTCAGTCTAAATTTCATTTATTACTGCTTGGATCTTTATTATTTCTTTCCTTTAATTAATTTTGGGTTTAGTTTGTTGTTATTTTTCAAATTCCTTGAGGTGCAATATTAAGTTGGGTTATTTTTGGGATCTAATTTTGGATGTAGGTGGTTAACGCCAATGAATTTGAAAACTAAGAAAGAACAGAGAAATCCTGGACAAACACAGTCTACCAAAACTGAAACATGAAGAAACAGAAAATCTGAACAAACCAATAACGAGTTAAGGAGATTTAATCTGTAATAAAAAGTCTCCCATCAAAGAAAAGCCCAGGGCCAGATGGCTTC
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Task1_train_22929
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This is a variant in ADAMTS18 (ADAM metallopeptidase with thrombospondin type 1 motif 18), located on Chromosome 16. Is this mutation a likely cause of disease or not?
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Pathogenic; Microcornea-myopic chorioretinal atrophy
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CGCACCAAGTTAACAGAATGGATACTGGCCATAGCCATTGAGCAGAGACCTAGAAGTGCCTGCTCGGCCAGACATGATGCCTTTAGTTAATGGACAGCCACAACTACGAGCATTCCTGGGAAGAAAAATGGCACCTGGAAAGCTCAGGGAAGTAACTGTGTACTAACTAGTACAGAAATAGTTTAGTACTGTAACACTGGTCCAGCCGTAATAGTGAAACTAGCTCCCTACAGAGTAAAATTAAAAGATAAAATTATTTAGAGTTAGATTTAAAAACTCAGGTTGGCCACTTATGAGCACAGTGACGTTGAGCCTCAGTTTCCTTATCTATGAAAACAGGTGACACTTGTTTATAAGGTTGTTGTAAAGATTTGCTTTGATGTCTCATATCAAACATGTCTTACCACTATAAACATCATTACTATCATTAATACAGGCTAAATCATTACTCTATATATGCTAAATGGATGCCCCTTAATGGGGATATTTCAATAATACCAAAAACTCAAAAACCAGTTAAAATGGTAGAAACTCTTTCATTATTCCTCCTGATTAATATCTTAGTGATACCAGTTCCTCTTCTCCATGAGAATAAACTTCTTCTGGCTGTGGTATCCAACTTGGCGCACAGTTTCCATGCACAGCTACTGAGCCACAGAAGAATTTAAAAGTTTAAAAAGCAATACTTGATTCAGCTATTGAAAATCTTTTGGCTGGGCGCAGTGGCTCATGCCTTTAATGCTAACAATTGGGAGACCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTTGGCGTGCTGGCGTGCGCCTATAATTCCACCTAGTAGGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGTGGGGTGGAGGTTGCAGTGAGCAGAGATCGCGCCACTTCACTCCAGCCTGGGCGAAAGAGTGAAACTGTCTCAAACAAAACAAAACAAAAACAAAAACAAAAAAACAAGCAAAAAGAAAATGTTTTAAATGTTTTAAGTATGTCCCAAACAACTTGAGTATGTAAATCTACTTTTTTGACCTTAATTTTATACAAGTTAAATGCAGATTAAGTATTTCCAATAAAAATTTATCATCTGAATCGACTGGTTTAAGTGCTGTAAGTTTAAAATAAACGCTGGATTTCCAAAACTTAACAGGAAAAAATAATGTAACTCTCTAATAATTTGTTATCCTGATTACATGTTGAGATAATATTTTGTACATGTTGGGTTAAATAAAATGTTATTAAAATTCATTTACCCTTTTTTTTAACTTTTAAAACTTGTGGCTATTAGAAAATGTAAAATTGTATTTAAGGCTCGTGTTACATTTCTATTGGACATCGCTGGTCTGGAAACGGCCGAAGGTTGTAACTAAGTCACAAACCATGCTCAAGGATACCTGTGTTTCACAGCTACCTCCCTCACATGCTAATGTTCTTGTTTCTGGAAGTCTCTCCTTTGTGTCCTCAAAGGAGACATCCAACCACACCTAGACATTTACCTCTGTCTTCTTTTGTCATTGGAAATCTAGGTACTTTTCTCGGAAGCACAGAAATCAAGACTGGGACCTATGGCATGAAAGTAGGAGATACTAAAAGAGTAAAAAAGAAACCTTATCTAAATCTTTCCTAGTTTAACCTAGAATAATTGATCATCCAGCATTTGCCTGAGAGAGATAATTACTGGTCCTACACCAAGACAGATGCTCAGGGTAGCCCCATTTTGACTTGCAAAGCTTGTACACCCAACAGCACTCAGGAAAACCTGTCGAGGCCCACATAAGAACAGAAAAAGAAAAAGTTTCCTTACATACATTTCTTGCGTCGTCCACAAAAATGCTGCTTTTGCAACCTTCGATGGTGATACTCTGTCTCTCGACTCTGAGATGCATGGGGAATGTGACTTGGGGAGTAACCAGGATAATTCCGGCCAGAGCCGGGGTAGCCACGGTACCGCTGGATCTTCTCCTCTGCTGTCCTTTTGTACAGTACGTGAGGATGGTGACCCGCAGGGGAGCTGTAGTTGTGTTCCTGGGCCAGAAGCTGAGGTAATGGCGAGATGAGGAATTCATTTTTTCGTGTCCTTATTAAACCTGACTAAAAAGCCAAACACAAAGCAAACAGTCATGATTCCATGCATCCCTGTGCCAAGGGTTGGTTTTCAACAACTGCTTCTGACTAATTCCTGTATGTGGGCACAGGAGCTAAAAGCTTCACACATATTGCCTCATTTTTATCTGCACCATTACAACGAGTTGCTATTATTATTGAGACAGGTCTCACTTTAAAACCAAAGCTGGAGAGCAGTGGCACAAACATGGCCCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCCAGCTCAGCCTCTGGAGTAGCTGAGACTACAGGCACGTGCTACCACGGCCAAATCACTTTTACACTTTTTATAGAAACAGGGTCAATGTGGCCCAAGCTGGTTTTGAACTCTTGGCCTCCCAAAATGCTGGGACTACAGGTATGAGTCACCGTACCTGGCTGGACAAGTTGCTATTATCACCACCCCCATTTACAAAGGAGAAAATTGAAGCTAAGATAGTAAGTAGGAAAGCTAGCATGGGCACCCAGAGTTCTCTACTTTCAGAGGCAGGGCTCACAACCACTGGGCTGCCAGCCCTGATGTTTGTGCCTGAAGGGCTGAGCCATGGACATTCTGCTGCATTGCATTTATGACCTGGCAGATGCCATGTTCACCACTGGATAGAGTGATGAATATAAAAATACCCCCACTCATTCTCAAGTGGTTCACACTTGATTTTTCTTTTTTTCTTTTTTTTTTTTTTTTTGAGATTAGGTTTCATTCTGTCCCTTAGGTTGGAGTACAATAGCACTATCATGGCTCACTGTAGCCTTGACCTACTGGTCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTACACACCACTATGCTCAGAAATGCGGTCTATATTGCCCAGGCTCGTCTCAAACTCCTGGCTTCAAGTGATCCTCCTACCTCAGCCTCCTAAAGTGCTCAGATTACAGGTGTGAGCCACCAGTTCTGGCCCATCTTGATTCACAGTTGCTAAATCAATGTTTTTAAAAAAAATCAGCAAGGATGGCAGAGAAAGGCATGAGTGATGTGATCTCTAAGTGGGGGTCTAGAGAATCTGATGAGTGGTGCTATAATGAAGAGACATATTTACCAAATCAAGAAGAAAGGGGAGACCCTGGGAAGCCCATTTAATCACAATTTCATTTACCAAGTTGATGGCACAGTATGGATATCTTCGTACCTGATTTTGCAGCCAAGATGCACCCTTGTCTTTCTTTCAGCAAATGTTGTACTCTATCTTCTCTAGATATCAGAGTTCCCTGATACCCAAGACCCTGCTGGGGAAAGTGTAATCTGCAGACTAGTAGCTTCAGCCTCACCCAGGAACCTGTGGGATTCAGAATCGTGGGCCTCACCCCAAACCTGCTGGATCAAAGTCTATGCTTTATTGATATCCTCACATGTTTATGGGATCCTTTTTATTTCTGTGGTATCAGTTATGTCACATTTTTCATTTCTGACTTTATTTTAATCTTTTTTTCATAGTCTAAGCTAAAGATTTGTCAATTTTATCTTTTTAAAAAACCAACTTTTTGTTTCATGAACTTTTACATTCTTTTTTCAGTCTAAATTTCATTTATTACTGCTTGGATCTTTATTATTTCTTTCCTTTAATTAATTTTGGGTTTAGTTTGTTGTTATTTTTCAAATTCCTTGAGGTGCAATATTAAGTTGGGTTATTTTTGGGATCTAATTTTGGATGTAGGTGGTTAACGCCAATGAATTTGAAAACTAAGAAAGAACAGAGAAATCCTGGACAAACACAGTCTACCAAAACTGAAACATGAAGAAACAGAAAATCTGAACAAACCAATAACGAGTTAAGGAGATTTAATCTGTAATAAAAAGTCTCCCATCAAAGAAAAGCCCAGGGCCAGATGGCTTCCCTGATGATTTCTATCA
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CGCACCAAGTTAACAGAATGGATACTGGCCATAGCCATTGAGCAGAGACCTAGAAGTGCCTGCTCGGCCAGACATGATGCCTTTAGTTAATGGACAGCCACAACTACGAGCATTCCTGGGAAGAAAAATGGCACCTGGAAAGCTCAGGGAAGTAACTGTGTACTAACTAGTACAGAAATAGTTTAGTACTGTAACACTGGTCCAGCCGTAATAGTGAAACTAGCTCCCTACAGAGTAAAATTAAAAGATAAAATTATTTAGAGTTAGATTTAAAAACTCAGGTTGGCCACTTATGAGCACAGTGACGTTGAGCCTCAGTTTCCTTATCTATGAAAACAGGTGACACTTGTTTATAAGGTTGTTGTAAAGATTTGCTTTGATGTCTCATATCAAACATGTCTTACCACTATAAACATCATTACTATCATTAATACAGGCTAAATCATTACTCTATATATGCTAAATGGATGCCCCTTAATGGGGATATTTCAATAATACCAAAAACTCAAAAACCAGTTAAAATGGTAGAAACTCTTTCATTATTCCTCCTGATTAATATCTTAGTGATACCAGTTCCTCTTCTCCATGAGAATAAACTTCTTCTGGCTGTGGTATCCAACTTGGCGCACAGTTTCCATGCACAGCTACTGAGCCACAGAAGAATTTAAAAGTTTAAAAAGCAATACTTGATTCAGCTATTGAAAATCTTTTGGCTGGGCGCAGTGGCTCATGCCTTTAATGCTAACAATTGGGAGACCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTTGGCGTGCTGGCGTGCGCCTATAATTCCACCTAGTAGGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGTGGGGTGGAGGTTGCAGTGAGCAGAGATCGCGCCACTTCACTCCAGCCTGGGCGAAAGAGTGAAACTGTCTCAAACAAAACAAAACAAAAACAAAAACAAAAAAACAAGCAAAAAGAAAATGTTTTAAATGTTTTAAGTATGTCCCAAACAACTTGAGTATGTAAATCTACTTTTTTGACCTTAATTTTATACAAGTTAAATGCAGATTAAGTATTTCCAATAAAAATTTATCATCTGAATCGACTGGTTTAAGTGCTGTAAGTTTAAAATAAACGCTGGATTTCCAAAACTTAACAGGAAAAAATAATGTAACTCTCTAATAATTTGTTATCCTGATTACATGTTGAGATAATATTTTGTACATGTTGGGTTAAATAAAATGTTATTAAAATTCATTTACCCTTTTTTTTAACTTTTAAAACTTGTGGCTATTAGAAAATGTAAAATTGTATTTAAGGCTCGTGTTACATTTCTATTGGACATCGCTGGTCTGGAAACGGCCGAAGGTTGTAACTAAGTCACAAACCATGCTCAAGGATACCTGTGTTTCACAGCTACCTCCCTCACATGCTAATGTTCTTGTTTCTGGAAGTCTCTCCTTTGTGTCCTCAAAGGAGACATCCAACCACACCTAGACATTTACCTCTGTCTTCTTTTGTCATTGGAAATCTAGGTACTTTTCTCGGAAGCACAGAAATCAAGACTGGGACCTATGGCATGAAAGTAGGAGATACTAAAAGAGTAAAAAAGAAACCTTATCTAAATCTTTCCTAGTTTAACCTAGAATAATTGATCATCCAGCATTTGCCTGAGAGAGATAATTACTGGTCCTACACCAAGACAGATGCTCAGGGTAGCCCCATTTTGACTTGCAAAGCTTGTACACCCAACAGCACTCAGGAAAACCTGTCGAGGCCCACATAAGAACAGAAAAAGAAAAAGTTTCCTTACATACATTTCTTGCGTCGTCCACAAAAATGCTGCTTTTGCAACCTTCGATGGTGATACTCTGTCTCTCGACTCTGAGATGCATGGGGAATGTGACTTGGGGAGTAACCAGGATAATTCCGGCCAGAGCCGGGGTAGCCACGGTACCGCTGGATCTTCTCCTCTGCTGTCCTTTTGTACGGTACGTGAGGATGGTGACCCGCAGGGGAGCTGTAGTTGTGTTCCTGGGCCAGAAGCTGAGGTAATGGCGAGATGAGGAATTCATTTTTTCGTGTCCTTATTAAACCTGACTAAAAAGCCAAACACAAAGCAAACAGTCATGATTCCATGCATCCCTGTGCCAAGGGTTGGTTTTCAACAACTGCTTCTGACTAATTCCTGTATGTGGGCACAGGAGCTAAAAGCTTCACACATATTGCCTCATTTTTATCTGCACCATTACAACGAGTTGCTATTATTATTGAGACAGGTCTCACTTTAAAACCAAAGCTGGAGAGCAGTGGCACAAACATGGCCCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCCAGCTCAGCCTCTGGAGTAGCTGAGACTACAGGCACGTGCTACCACGGCCAAATCACTTTTACACTTTTTATAGAAACAGGGTCAATGTGGCCCAAGCTGGTTTTGAACTCTTGGCCTCCCAAAATGCTGGGACTACAGGTATGAGTCACCGTACCTGGCTGGACAAGTTGCTATTATCACCACCCCCATTTACAAAGGAGAAAATTGAAGCTAAGATAGTAAGTAGGAAAGCTAGCATGGGCACCCAGAGTTCTCTACTTTCAGAGGCAGGGCTCACAACCACTGGGCTGCCAGCCCTGATGTTTGTGCCTGAAGGGCTGAGCCATGGACATTCTGCTGCATTGCATTTATGACCTGGCAGATGCCATGTTCACCACTGGATAGAGTGATGAATATAAAAATACCCCCACTCATTCTCAAGTGGTTCACACTTGATTTTTCTTTTTTTCTTTTTTTTTTTTTTTTTGAGATTAGGTTTCATTCTGTCCCTTAGGTTGGAGTACAATAGCACTATCATGGCTCACTGTAGCCTTGACCTACTGGTCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTACACACCACTATGCTCAGAAATGCGGTCTATATTGCCCAGGCTCGTCTCAAACTCCTGGCTTCAAGTGATCCTCCTACCTCAGCCTCCTAAAGTGCTCAGATTACAGGTGTGAGCCACCAGTTCTGGCCCATCTTGATTCACAGTTGCTAAATCAATGTTTTTAAAAAAAATCAGCAAGGATGGCAGAGAAAGGCATGAGTGATGTGATCTCTAAGTGGGGGTCTAGAGAATCTGATGAGTGGTGCTATAATGAAGAGACATATTTACCAAATCAAGAAGAAAGGGGAGACCCTGGGAAGCCCATTTAATCACAATTTCATTTACCAAGTTGATGGCACAGTATGGATATCTTCGTACCTGATTTTGCAGCCAAGATGCACCCTTGTCTTTCTTTCAGCAAATGTTGTACTCTATCTTCTCTAGATATCAGAGTTCCCTGATACCCAAGACCCTGCTGGGGAAAGTGTAATCTGCAGACTAGTAGCTTCAGCCTCACCCAGGAACCTGTGGGATTCAGAATCGTGGGCCTCACCCCAAACCTGCTGGATCAAAGTCTATGCTTTATTGATATCCTCACATGTTTATGGGATCCTTTTTATTTCTGTGGTATCAGTTATGTCACATTTTTCATTTCTGACTTTATTTTAATCTTTTTTTCATAGTCTAAGCTAAAGATTTGTCAATTTTATCTTTTTAAAAAACCAACTTTTTGTTTCATGAACTTTTACATTCTTTTTTCAGTCTAAATTTCATTTATTACTGCTTGGATCTTTATTATTTCTTTCCTTTAATTAATTTTGGGTTTAGTTTGTTGTTATTTTTCAAATTCCTTGAGGTGCAATATTAAGTTGGGTTATTTTTGGGATCTAATTTTGGATGTAGGTGGTTAACGCCAATGAATTTGAAAACTAAGAAAGAACAGAGAAATCCTGGACAAACACAGTCTACCAAAACTGAAACATGAAGAAACAGAAAATCTGAACAAACCAATAACGAGTTAAGGAGATTTAATCTGTAATAAAAAGTCTCCCATCAAAGAAAAGCCCAGGGCCAGATGGCTTCCCTGATGATTTCTATCA
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Task1_train_22930
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Chromosome 16 houses a mutation in gene WWOX (WW domain containing oxidoreductase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Autosomal recessive spinocerebellar ataxia 12
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TAGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAGATATGTTTGAGGTTTTGGATACAGAACATTTATAGGATATCTTTTGGTGGTCCAAGAGGACTTGAGTGTACCTTGTAAATACAGGATTTTGTTTTTAATTAGATTGATTCACAGAGAACCAAACCTAAGGAATCACATCATTCATTCATTTGTTCATTTAATAAATTTGTAGGTTGAAGCATTTACCAAGTGCTGGCAATAGAAAGAAGTCCCGGGTGTGCTTTGTCAGTTTAGTCGGGACTACACAAATGAGTCAATAACTGTAGTGGAGTGATGCGATCTCAACTGCCAGGAATCCCCCGGCTCTCCTCTCTTCCTGTGCCTCTTCAGGTAATTAGCTATCCTTTCTTTCTTTTATTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTTCTTTCCAGATTCTGGACCTATTCCAGACTTACTAAAGGAAATTCTCTAAAGGTGAGGCAGTTTTTTAAAGACAGCAGCTCTCTCTGTCGTCCATGCTGGAGTGCAGTGGCCCGATCATAGCTCACTGCAGCCTCGACTTCTTGGGCTCAAGTGATCCTCCCCCTTCAGCCTCAATGAGTAGCTGGGACTACCGATGTGCACTACCACGCCCGGCAAACTAAAAAAATAATTATTTTTGGTAAAGACAGGGGTCTTGCGATGTTGCCCAGGCTGTTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAATGTGTTTGGATTACAGGCATGAGCCACTGAGCCCGGCCTAGCTACCCTGTCTGAGTTGTGCCCACTACACAAAGGTGTCAGCTACATGTGATGTCTGTGCATTTCTGGCCTGGACCGCACATTAAGTGCTCCGTAAACATCAGTCTCTATTATCAACAGTCTCTATTATCAATCAGTCTCTATTATCATCAGTCTCTATTATCATGAGTCTCTATTAAACAACAGTCTCTATTATCACAGTCTCTATTATGTGTTTTGGCTGAAAGAAAGTTCTCTAAAACCAGGAAATCAGGAATCAGCAGTTTTAAGTTCTCCAGGTTATATTTTAACATTGTGTTCATATGCAAAACAAAGGTTGTGAATCAGCACGAATGCTGGCAAGCCCTGGAAGGTTTGTGATCACGGACTTTCACGAGACCCCAAGGCAAGGAGAGACAGAAGCCCAGGACAACAGCATGGGCGCCGCTTTTTAGTCGGGCGCCGCTTTTTGGTCAGGCGCCACCTGGACTACATTTCCCATATCCAATTGCCGGGCTCCTGCAGGATTGGCCAGAACAACGCGGAAGTGATTACGGGTCGCCCAGCAACGGGCGGAGTCCTGGCCCGAAACTGGATGCGCACGCCCCTTCCCTGCGGCGGGGAGGCTGACAAGGCTCCGCTCTATCTCTAGCGCCTCGGAGCGCTCTCCGGCTTTGCTGTCTAGCCCGGCGGCAGCGCGATCTCTTAGGCACTTTCACCGCCTTCCTCTCCAGGCCCTGCCCCTTTGACGCCGGCCGTCGCGATATTGCGGAGACTGGATTTCAGCTTCGTGGTCGGCGGAGCGGCCCCTGGAGGGCGCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTCAGCCATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAAGTAAGGGGGCCGCAGTGGGGCCGCGGACGCACCTGGGACCCTGCACAGCCCACGGACGCCACCTGCGCGGGGAGGACGCGCACTCCAGCGCAGCGCGTGCGGTGCAAAGTGAAAGTAACTGTTAAGGAGCTTCAGGGAAAAGGGTCCAGGGTTCCCAGTAGGGGCCGGCCCCCTTGGTGGGCCTCGGGTCCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCGCGGCGCGGCGAGGGCAAAGCGGCCTCATCCCCGCCAAAAAATAAAGATGTTTTAAAAAGCGCACATGCTCAGCTCCCTCCTGCAGGCTCTGGGTTGCAGGGATAGGAGTTTTGTTGTGTTTTGTTTTGTTTTGTCCAGACCGGTATTGCTCAGTCATCCAGGCTGGAGTGCAGGGGTGCCATCATAGCCCACTGTAGCCTCTACCTACTGGGTTCAGACAATCCTCTCATCTCAGCCTCTTGAGTGGCTGGGACTACAAGCGTGCACTACTATGCCCGACTAATTTTTTAAGTATTTGTAGAGACTAGGGTCGCACCATGTTGCCCAGGCTGGTCTCGAACTACTGGGCTCAAGCAGGCCACCTGCCTCAGCCTCCAGAATTGAGATTACAGGCGTGAGCCACTGCGCCTAGCCAGGAGTATTTTTTAGTAGCAGTCCTAGATAGCTTCACTATCATTTCCTGGGAAAGTTTTGGAAACCCCAGCAGAGCCTTCATCTTTAACTGTGTGACCTTGGGCCATTGAAATAACGTTTAATCTTGGTTTTTTCACCTGTAAAATGGGTTGATACGAGGGTCAGTTCAGGCACTGTGCGTAAAGCACATAGCACCGTGTCTAGTAGGTACTCTCTGTTCCTTAACTGTCGTTCCTTGATTGCTCTTAAGATACGACAGTGCCTCTTATATCGGCACCTTAGAATCACCTAGGAAATGTCCTAAATACACGTTTTGGGTCTCCATAGAGAACCTACTGTAGCCGACTCTCAACTTTGGGAGTCTCTTTTTTTAAGCTTTCCAGGTGAGGTGGAATATCACCTGGTTTTGAGAAACATGGATGTAAATCTGATTTTCAGCATCTGGGAAACTTTTTTTGTAAGAGCCTTTTTCTGGGCCCCACTTCCAGAGGGTTTTTCTTTTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCTCCCGGCCTTTTTTTTTTTTTTTTTAAAGACAGGGTCTCGCTCCGTCGCCCAAACTGGAGTGCCGTGGTGCGATCTCGGTTCACTGCAACCTCTGCATGCCGAGTTCAAGCGATTCTCGTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCGCCACCAGGCCTGGCTAATTTCGCGCTGTTGGCCCGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCCCCCAAAGTGTTGGCATTACAGACAGGAGCCACTGCGTCAGCCCAGAATTTCTGATTTAATTGGTTTGGCCCCTCCCCTCTCCCTTGGTAGGTTGTAAAATCTTCCCTCCCAGGTGATTCTAATCTATGCAAGGATGTGAACCACTGCTGCCTTTGGTGGCAAGGTAGAGGAAAAACAACCAAGTTCTGATGAGTTCATTCAAGACACACACAGGTATTATGTGACAGGCCTTTGGCTGGCACTGGTTAT
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TAGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAGATATGTTTGAGGTTTTGGATACAGAACATTTATAGGATATCTTTTGGTGGTCCAAGAGGACTTGAGTGTACCTTGTAAATACAGGATTTTGTTTTTAATTAGATTGATTCACAGAGAACCAAACCTAAGGAATCACATCATTCATTCATTTGTTCATTTAATAAATTTGTAGGTTGAAGCATTTACCAAGTGCTGGCAATAGAAAGAAGTCCCGGGTGTGCTTTGTCAGTTTAGTCGGGACTACACAAATGAGTCAATAACTGTAGTGGAGTGATGCGATCTCAACTGCCAGGAATCCCCCGGCTCTCCTCTCTTCCTGTGCCTCTTCAGGTAATTAGCTATCCTTTCTTTCTTTTATTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTTCTTTCCAGATTCTGGACCTATTCCAGACTTACTAAAGGAAATTCTCTAAAGGTGAGGCAGTTTTTTAAAGACAGCAGCTCTCTCTGTCGTCCATGCTGGAGTGCAGTGGCCCGATCATAGCTCACTGCAGCCTCGACTTCTTGGGCTCAAGTGATCCTCCCCCTTCAGCCTCAATGAGTAGCTGGGACTACCGATGTGCACTACCACGCCCGGCAAACTAAAAAAATAATTATTTTTGGTAAAGACAGGGGTCTTGCGATGTTGCCCAGGCTGTTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAATGTGTTTGGATTACAGGCATGAGCCACTGAGCCCGGCCTAGCTACCCTGTCTGAGTTGTGCCCACTACACAAAGGTGTCAGCTACATGTGATGTCTGTGCATTTCTGGCCTGGACCGCACATTAAGTGCTCCGTAAACATCAGTCTCTATTATCAACAGTCTCTATTATCAATCAGTCTCTATTATCATCAGTCTCTATTATCATGAGTCTCTATTAAACAACAGTCTCTATTATCACAGTCTCTATTATGTGTTTTGGCTGAAAGAAAGTTCTCTAAAACCAGGAAATCAGGAATCAGCAGTTTTAAGTTCTCCAGGTTATATTTTAACATTGTGTTCATATGCAAAACAAAGGTTGTGAATCAGCACGAATGCTGGCAAGCCCTGGAAGGTTTGTGATCACGGACTTTCACGAGACCCCAAGGCAAGGAGAGACAGAAGCCCAGGACAACAGCATGGGCGCCGCTTTTTAGTCGGGCGCCGCTTTTTGGTCAGGCGCCACCTGGACTACATTTCCCATATCCAATTGCCGGGCTCCTGCAGGATTGGCCAGAACAACGCGGAAGTGATTACGGGTCGCCCAGCAACGGGCGGAGTCCTGGCCCGAAACTGGATGCGCACGCCCCTTCCCTGCGGCGGGGAGGCTGACAAGGCTCCGCTCTATCTCTAGCGCCTCGGAGCGCTCTCCGGCTTTGCTGTCTAGCCCGGCGGCAGCGCGATCTCTTAGGCACTTTCACCGCCTTCCTCTCCAGGCCCTGCCCCTTTGACGCCGGCCGTCGCGATATTGCGGAGACTGGATTTCAGCTTCGTGGTCGGCGGAGCGGCCCCTGGAGGGCGCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTCAGCCCTGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAAGTAAGGGGGCCGCAGTGGGGCCGCGGACGCACCTGGGACCCTGCACAGCCCACGGACGCCACCTGCGCGGGGAGGACGCGCACTCCAGCGCAGCGCGTGCGGTGCAAAGTGAAAGTAACTGTTAAGGAGCTTCAGGGAAAAGGGTCCAGGGTTCCCAGTAGGGGCCGGCCCCCTTGGTGGGCCTCGGGTCCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCGCGGCGCGGCGAGGGCAAAGCGGCCTCATCCCCGCCAAAAAATAAAGATGTTTTAAAAAGCGCACATGCTCAGCTCCCTCCTGCAGGCTCTGGGTTGCAGGGATAGGAGTTTTGTTGTGTTTTGTTTTGTTTTGTCCAGACCGGTATTGCTCAGTCATCCAGGCTGGAGTGCAGGGGTGCCATCATAGCCCACTGTAGCCTCTACCTACTGGGTTCAGACAATCCTCTCATCTCAGCCTCTTGAGTGGCTGGGACTACAAGCGTGCACTACTATGCCCGACTAATTTTTTAAGTATTTGTAGAGACTAGGGTCGCACCATGTTGCCCAGGCTGGTCTCGAACTACTGGGCTCAAGCAGGCCACCTGCCTCAGCCTCCAGAATTGAGATTACAGGCGTGAGCCACTGCGCCTAGCCAGGAGTATTTTTTAGTAGCAGTCCTAGATAGCTTCACTATCATTTCCTGGGAAAGTTTTGGAAACCCCAGCAGAGCCTTCATCTTTAACTGTGTGACCTTGGGCCATTGAAATAACGTTTAATCTTGGTTTTTTCACCTGTAAAATGGGTTGATACGAGGGTCAGTTCAGGCACTGTGCGTAAAGCACATAGCACCGTGTCTAGTAGGTACTCTCTGTTCCTTAACTGTCGTTCCTTGATTGCTCTTAAGATACGACAGTGCCTCTTATATCGGCACCTTAGAATCACCTAGGAAATGTCCTAAATACACGTTTTGGGTCTCCATAGAGAACCTACTGTAGCCGACTCTCAACTTTGGGAGTCTCTTTTTTTAAGCTTTCCAGGTGAGGTGGAATATCACCTGGTTTTGAGAAACATGGATGTAAATCTGATTTTCAGCATCTGGGAAACTTTTTTTGTAAGAGCCTTTTTCTGGGCCCCACTTCCAGAGGGTTTTTCTTTTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCTCCCGGCCTTTTTTTTTTTTTTTTTAAAGACAGGGTCTCGCTCCGTCGCCCAAACTGGAGTGCCGTGGTGCGATCTCGGTTCACTGCAACCTCTGCATGCCGAGTTCAAGCGATTCTCGTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCGCCACCAGGCCTGGCTAATTTCGCGCTGTTGGCCCGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCCCCCAAAGTGTTGGCATTACAGACAGGAGCCACTGCGTCAGCCCAGAATTTCTGATTTAATTGGTTTGGCCCCTCCCCTCTCCCTTGGTAGGTTGTAAAATCTTCCCTCCCAGGTGATTCTAATCTATGCAAGGATGTGAACCACTGCTGCCTTTGGTGGCAAGGTAGAGGAAAAACAACCAAGTTCTGATGAGTTCATTCAAGACACACACAGGTATTATGTGACAGGCCTTTGGCTGGCACTGGTTAT
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Task1_train_22931
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Given this variant in gene WWOX (WW domain containing oxidoreductase) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Developmental and epileptic encephalopathy, 1
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TAGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAGATATGTTTGAGGTTTTGGATACAGAACATTTATAGGATATCTTTTGGTGGTCCAAGAGGACTTGAGTGTACCTTGTAAATACAGGATTTTGTTTTTAATTAGATTGATTCACAGAGAACCAAACCTAAGGAATCACATCATTCATTCATTTGTTCATTTAATAAATTTGTAGGTTGAAGCATTTACCAAGTGCTGGCAATAGAAAGAAGTCCCGGGTGTGCTTTGTCAGTTTAGTCGGGACTACACAAATGAGTCAATAACTGTAGTGGAGTGATGCGATCTCAACTGCCAGGAATCCCCCGGCTCTCCTCTCTTCCTGTGCCTCTTCAGGTAATTAGCTATCCTTTCTTTCTTTTATTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTTCTTTCCAGATTCTGGACCTATTCCAGACTTACTAAAGGAAATTCTCTAAAGGTGAGGCAGTTTTTTAAAGACAGCAGCTCTCTCTGTCGTCCATGCTGGAGTGCAGTGGCCCGATCATAGCTCACTGCAGCCTCGACTTCTTGGGCTCAAGTGATCCTCCCCCTTCAGCCTCAATGAGTAGCTGGGACTACCGATGTGCACTACCACGCCCGGCAAACTAAAAAAATAATTATTTTTGGTAAAGACAGGGGTCTTGCGATGTTGCCCAGGCTGTTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAATGTGTTTGGATTACAGGCATGAGCCACTGAGCCCGGCCTAGCTACCCTGTCTGAGTTGTGCCCACTACACAAAGGTGTCAGCTACATGTGATGTCTGTGCATTTCTGGCCTGGACCGCACATTAAGTGCTCCGTAAACATCAGTCTCTATTATCAACAGTCTCTATTATCAATCAGTCTCTATTATCATCAGTCTCTATTATCATGAGTCTCTATTAAACAACAGTCTCTATTATCACAGTCTCTATTATGTGTTTTGGCTGAAAGAAAGTTCTCTAAAACCAGGAAATCAGGAATCAGCAGTTTTAAGTTCTCCAGGTTATATTTTAACATTGTGTTCATATGCAAAACAAAGGTTGTGAATCAGCACGAATGCTGGCAAGCCCTGGAAGGTTTGTGATCACGGACTTTCACGAGACCCCAAGGCAAGGAGAGACAGAAGCCCAGGACAACAGCATGGGCGCCGCTTTTTAGTCGGGCGCCGCTTTTTGGTCAGGCGCCACCTGGACTACATTTCCCATATCCAATTGCCGGGCTCCTGCAGGATTGGCCAGAACAACGCGGAAGTGATTACGGGTCGCCCAGCAACGGGCGGAGTCCTGGCCCGAAACTGGATGCGCACGCCCCTTCCCTGCGGCGGGGAGGCTGACAAGGCTCCGCTCTATCTCTAGCGCCTCGGAGCGCTCTCCGGCTTTGCTGTCTAGCCCGGCGGCAGCGCGATCTCTTAGGCACTTTCACCGCCTTCCTCTCCAGGCCCTGCCCCTTTGACGCCGGCCGTCGCGATATTGCGGAGACTGGATTTCAGCTTCGTGGTCGGCGGAGCGGCCCCTGGAGGGCGCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTCAGCCATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAAGTAAGGGGGCCGCAGTGGGGCCGCGGACGCACCTGGGACCCTGCACAGCCCACGGACGCCACCTGCGCGGGGAGGACGCGCACTCCAGCGCAGCGCGTGCGGTGCAAAGTGAAAGTAACTGTTAAGGAGCTTCAGGGAAAAGGGTCCAGGGTTCCCAGTAGGGGCCGGCCCCCTTGGTGGGCCTCGGGTCCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCGCGGCGCGGCGAGGGCAAAGCGGCCTCATCCCCGCCAAAAAATAAAGATGTTTTAAAAAGCGCACATGCTCAGCTCCCTCCTGCAGGCTCTGGGTTGCAGGGATAGGAGTTTTGTTGTGTTTTGTTTTGTTTTGTCCAGACCGGTATTGCTCAGTCATCCAGGCTGGAGTGCAGGGGTGCCATCATAGCCCACTGTAGCCTCTACCTACTGGGTTCAGACAATCCTCTCATCTCAGCCTCTTGAGTGGCTGGGACTACAAGCGTGCACTACTATGCCCGACTAATTTTTTAAGTATTTGTAGAGACTAGGGTCGCACCATGTTGCCCAGGCTGGTCTCGAACTACTGGGCTCAAGCAGGCCACCTGCCTCAGCCTCCAGAATTGAGATTACAGGCGTGAGCCACTGCGCCTAGCCAGGAGTATTTTTTAGTAGCAGTCCTAGATAGCTTCACTATCATTTCCTGGGAAAGTTTTGGAAACCCCAGCAGAGCCTTCATCTTTAACTGTGTGACCTTGGGCCATTGAAATAACGTTTAATCTTGGTTTTTTCACCTGTAAAATGGGTTGATACGAGGGTCAGTTCAGGCACTGTGCGTAAAGCACATAGCACCGTGTCTAGTAGGTACTCTCTGTTCCTTAACTGTCGTTCCTTGATTGCTCTTAAGATACGACAGTGCCTCTTATATCGGCACCTTAGAATCACCTAGGAAATGTCCTAAATACACGTTTTGGGTCTCCATAGAGAACCTACTGTAGCCGACTCTCAACTTTGGGAGTCTCTTTTTTTAAGCTTTCCAGGTGAGGTGGAATATCACCTGGTTTTGAGAAACATGGATGTAAATCTGATTTTCAGCATCTGGGAAACTTTTTTTGTAAGAGCCTTTTTCTGGGCCCCACTTCCAGAGGGTTTTTCTTTTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCTCCCGGCCTTTTTTTTTTTTTTTTTAAAGACAGGGTCTCGCTCCGTCGCCCAAACTGGAGTGCCGTGGTGCGATCTCGGTTCACTGCAACCTCTGCATGCCGAGTTCAAGCGATTCTCGTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCGCCACCAGGCCTGGCTAATTTCGCGCTGTTGGCCCGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCCCCCAAAGTGTTGGCATTACAGACAGGAGCCACTGCGTCAGCCCAGAATTTCTGATTTAATTGGTTTGGCCCCTCCCCTCTCCCTTGGTAGGTTGTAAAATCTTCCCTCCCAGGTGATTCTAATCTATGCAAGGATGTGAACCACTGCTGCCTTTGGTGGCAAGGTAGAGGAAAAACAACCAAGTTCTGATGAGTTCATTCAAGACACACACAGGTATTATGTGACAGGCCTTTGGCTGGCACTGGTTAT
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TAGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAGATATGTTTGAGGTTTTGGATACAGAACATTTATAGGATATCTTTTGGTGGTCCAAGAGGACTTGAGTGTACCTTGTAAATACAGGATTTTGTTTTTAATTAGATTGATTCACAGAGAACCAAACCTAAGGAATCACATCATTCATTCATTTGTTCATTTAATAAATTTGTAGGTTGAAGCATTTACCAAGTGCTGGCAATAGAAAGAAGTCCCGGGTGTGCTTTGTCAGTTTAGTCGGGACTACACAAATGAGTCAATAACTGTAGTGGAGTGATGCGATCTCAACTGCCAGGAATCCCCCGGCTCTCCTCTCTTCCTGTGCCTCTTCAGGTAATTAGCTATCCTTTCTTTCTTTTATTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTTCTTTCCAGATTCTGGACCTATTCCAGACTTACTAAAGGAAATTCTCTAAAGGTGAGGCAGTTTTTTAAAGACAGCAGCTCTCTCTGTCGTCCATGCTGGAGTGCAGTGGCCCGATCATAGCTCACTGCAGCCTCGACTTCTTGGGCTCAAGTGATCCTCCCCCTTCAGCCTCAATGAGTAGCTGGGACTACCGATGTGCACTACCACGCCCGGCAAACTAAAAAAATAATTATTTTTGGTAAAGACAGGGGTCTTGCGATGTTGCCCAGGCTGTTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAATGTGTTTGGATTACAGGCATGAGCCACTGAGCCCGGCCTAGCTACCCTGTCTGAGTTGTGCCCACTACACAAAGGTGTCAGCTACATGTGATGTCTGTGCATTTCTGGCCTGGACCGCACATTAAGTGCTCCGTAAACATCAGTCTCTATTATCAACAGTCTCTATTATCAATCAGTCTCTATTATCATCAGTCTCTATTATCATGAGTCTCTATTAAACAACAGTCTCTATTATCACAGTCTCTATTATGTGTTTTGGCTGAAAGAAAGTTCTCTAAAACCAGGAAATCAGGAATCAGCAGTTTTAAGTTCTCCAGGTTATATTTTAACATTGTGTTCATATGCAAAACAAAGGTTGTGAATCAGCACGAATGCTGGCAAGCCCTGGAAGGTTTGTGATCACGGACTTTCACGAGACCCCAAGGCAAGGAGAGACAGAAGCCCAGGACAACAGCATGGGCGCCGCTTTTTAGTCGGGCGCCGCTTTTTGGTCAGGCGCCACCTGGACTACATTTCCCATATCCAATTGCCGGGCTCCTGCAGGATTGGCCAGAACAACGCGGAAGTGATTACGGGTCGCCCAGCAACGGGCGGAGTCCTGGCCCGAAACTGGATGCGCACGCCCCTTCCCTGCGGCGGGGAGGCTGACAAGGCTCCGCTCTATCTCTAGCGCCTCGGAGCGCTCTCCGGCTTTGCTGTCTAGCCCGGCGGCAGCGCGATCTCTTAGGCACTTTCACCGCCTTCCTCTCCAGGCCCTGCCCCTTTGACGCCGGCCGTCGCGATATTGCGGAGACTGGATTTCAGCTTCGTGGTCGGCGGAGCGGCCCCTGGAGGGCGCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTCAGCCCTGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAAGTAAGGGGGCCGCAGTGGGGCCGCGGACGCACCTGGGACCCTGCACAGCCCACGGACGCCACCTGCGCGGGGAGGACGCGCACTCCAGCGCAGCGCGTGCGGTGCAAAGTGAAAGTAACTGTTAAGGAGCTTCAGGGAAAAGGGTCCAGGGTTCCCAGTAGGGGCCGGCCCCCTTGGTGGGCCTCGGGTCCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCGCGGCGCGGCGAGGGCAAAGCGGCCTCATCCCCGCCAAAAAATAAAGATGTTTTAAAAAGCGCACATGCTCAGCTCCCTCCTGCAGGCTCTGGGTTGCAGGGATAGGAGTTTTGTTGTGTTTTGTTTTGTTTTGTCCAGACCGGTATTGCTCAGTCATCCAGGCTGGAGTGCAGGGGTGCCATCATAGCCCACTGTAGCCTCTACCTACTGGGTTCAGACAATCCTCTCATCTCAGCCTCTTGAGTGGCTGGGACTACAAGCGTGCACTACTATGCCCGACTAATTTTTTAAGTATTTGTAGAGACTAGGGTCGCACCATGTTGCCCAGGCTGGTCTCGAACTACTGGGCTCAAGCAGGCCACCTGCCTCAGCCTCCAGAATTGAGATTACAGGCGTGAGCCACTGCGCCTAGCCAGGAGTATTTTTTAGTAGCAGTCCTAGATAGCTTCACTATCATTTCCTGGGAAAGTTTTGGAAACCCCAGCAGAGCCTTCATCTTTAACTGTGTGACCTTGGGCCATTGAAATAACGTTTAATCTTGGTTTTTTCACCTGTAAAATGGGTTGATACGAGGGTCAGTTCAGGCACTGTGCGTAAAGCACATAGCACCGTGTCTAGTAGGTACTCTCTGTTCCTTAACTGTCGTTCCTTGATTGCTCTTAAGATACGACAGTGCCTCTTATATCGGCACCTTAGAATCACCTAGGAAATGTCCTAAATACACGTTTTGGGTCTCCATAGAGAACCTACTGTAGCCGACTCTCAACTTTGGGAGTCTCTTTTTTTAAGCTTTCCAGGTGAGGTGGAATATCACCTGGTTTTGAGAAACATGGATGTAAATCTGATTTTCAGCATCTGGGAAACTTTTTTTGTAAGAGCCTTTTTCTGGGCCCCACTTCCAGAGGGTTTTTCTTTTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCTCCCGGCCTTTTTTTTTTTTTTTTTAAAGACAGGGTCTCGCTCCGTCGCCCAAACTGGAGTGCCGTGGTGCGATCTCGGTTCACTGCAACCTCTGCATGCCGAGTTCAAGCGATTCTCGTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCGCCACCAGGCCTGGCTAATTTCGCGCTGTTGGCCCGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCCCCCAAAGTGTTGGCATTACAGACAGGAGCCACTGCGTCAGCCCAGAATTTCTGATTTAATTGGTTTGGCCCCTCCCCTCTCCCTTGGTAGGTTGTAAAATCTTCCCTCCCAGGTGATTCTAATCTATGCAAGGATGTGAACCACTGCTGCCTTTGGTGGCAAGGTAGAGGAAAAACAACCAAGTTCTGATGAGTTCATTCAAGACACACACAGGTATTATGTGACAGGCCTTTGGCTGGCACTGGTTAT
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Task1_train_22932
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With a mutation on Chromosome 16 in gene WWOX (WW domain containing oxidoreductase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Autosomal recessive spinocerebellar ataxia 12
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AGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAGATATGTTTGAGGTTTTGGATACAGAACATTTATAGGATATCTTTTGGTGGTCCAAGAGGACTTGAGTGTACCTTGTAAATACAGGATTTTGTTTTTAATTAGATTGATTCACAGAGAACCAAACCTAAGGAATCACATCATTCATTCATTTGTTCATTTAATAAATTTGTAGGTTGAAGCATTTACCAAGTGCTGGCAATAGAAAGAAGTCCCGGGTGTGCTTTGTCAGTTTAGTCGGGACTACACAAATGAGTCAATAACTGTAGTGGAGTGATGCGATCTCAACTGCCAGGAATCCCCCGGCTCTCCTCTCTTCCTGTGCCTCTTCAGGTAATTAGCTATCCTTTCTTTCTTTTATTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTTCTTTCCAGATTCTGGACCTATTCCAGACTTACTAAAGGAAATTCTCTAAAGGTGAGGCAGTTTTTTAAAGACAGCAGCTCTCTCTGTCGTCCATGCTGGAGTGCAGTGGCCCGATCATAGCTCACTGCAGCCTCGACTTCTTGGGCTCAAGTGATCCTCCCCCTTCAGCCTCAATGAGTAGCTGGGACTACCGATGTGCACTACCACGCCCGGCAAACTAAAAAAATAATTATTTTTGGTAAAGACAGGGGTCTTGCGATGTTGCCCAGGCTGTTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAATGTGTTTGGATTACAGGCATGAGCCACTGAGCCCGGCCTAGCTACCCTGTCTGAGTTGTGCCCACTACACAAAGGTGTCAGCTACATGTGATGTCTGTGCATTTCTGGCCTGGACCGCACATTAAGTGCTCCGTAAACATCAGTCTCTATTATCAACAGTCTCTATTATCAATCAGTCTCTATTATCATCAGTCTCTATTATCATGAGTCTCTATTAAACAACAGTCTCTATTATCACAGTCTCTATTATGTGTTTTGGCTGAAAGAAAGTTCTCTAAAACCAGGAAATCAGGAATCAGCAGTTTTAAGTTCTCCAGGTTATATTTTAACATTGTGTTCATATGCAAAACAAAGGTTGTGAATCAGCACGAATGCTGGCAAGCCCTGGAAGGTTTGTGATCACGGACTTTCACGAGACCCCAAGGCAAGGAGAGACAGAAGCCCAGGACAACAGCATGGGCGCCGCTTTTTAGTCGGGCGCCGCTTTTTGGTCAGGCGCCACCTGGACTACATTTCCCATATCCAATTGCCGGGCTCCTGCAGGATTGGCCAGAACAACGCGGAAGTGATTACGGGTCGCCCAGCAACGGGCGGAGTCCTGGCCCGAAACTGGATGCGCACGCCCCTTCCCTGCGGCGGGGAGGCTGACAAGGCTCCGCTCTATCTCTAGCGCCTCGGAGCGCTCTCCGGCTTTGCTGTCTAGCCCGGCGGCAGCGCGATCTCTTAGGCACTTTCACCGCCTTCCTCTCCAGGCCCTGCCCCTTTGACGCCGGCCGTCGCGATATTGCGGAGACTGGATTTCAGCTTCGTGGTCGGCGGAGCGGCCCCTGGAGGGCGCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTCAGCCATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAAGTAAGGGGGCCGCAGTGGGGCCGCGGACGCACCTGGGACCCTGCACAGCCCACGGACGCCACCTGCGCGGGGAGGACGCGCACTCCAGCGCAGCGCGTGCGGTGCAAAGTGAAAGTAACTGTTAAGGAGCTTCAGGGAAAAGGGTCCAGGGTTCCCAGTAGGGGCCGGCCCCCTTGGTGGGCCTCGGGTCCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCGCGGCGCGGCGAGGGCAAAGCGGCCTCATCCCCGCCAAAAAATAAAGATGTTTTAAAAAGCGCACATGCTCAGCTCCCTCCTGCAGGCTCTGGGTTGCAGGGATAGGAGTTTTGTTGTGTTTTGTTTTGTTTTGTCCAGACCGGTATTGCTCAGTCATCCAGGCTGGAGTGCAGGGGTGCCATCATAGCCCACTGTAGCCTCTACCTACTGGGTTCAGACAATCCTCTCATCTCAGCCTCTTGAGTGGCTGGGACTACAAGCGTGCACTACTATGCCCGACTAATTTTTTAAGTATTTGTAGAGACTAGGGTCGCACCATGTTGCCCAGGCTGGTCTCGAACTACTGGGCTCAAGCAGGCCACCTGCCTCAGCCTCCAGAATTGAGATTACAGGCGTGAGCCACTGCGCCTAGCCAGGAGTATTTTTTAGTAGCAGTCCTAGATAGCTTCACTATCATTTCCTGGGAAAGTTTTGGAAACCCCAGCAGAGCCTTCATCTTTAACTGTGTGACCTTGGGCCATTGAAATAACGTTTAATCTTGGTTTTTTCACCTGTAAAATGGGTTGATACGAGGGTCAGTTCAGGCACTGTGCGTAAAGCACATAGCACCGTGTCTAGTAGGTACTCTCTGTTCCTTAACTGTCGTTCCTTGATTGCTCTTAAGATACGACAGTGCCTCTTATATCGGCACCTTAGAATCACCTAGGAAATGTCCTAAATACACGTTTTGGGTCTCCATAGAGAACCTACTGTAGCCGACTCTCAACTTTGGGAGTCTCTTTTTTTAAGCTTTCCAGGTGAGGTGGAATATCACCTGGTTTTGAGAAACATGGATGTAAATCTGATTTTCAGCATCTGGGAAACTTTTTTTGTAAGAGCCTTTTTCTGGGCCCCACTTCCAGAGGGTTTTTCTTTTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCTCCCGGCCTTTTTTTTTTTTTTTTTAAAGACAGGGTCTCGCTCCGTCGCCCAAACTGGAGTGCCGTGGTGCGATCTCGGTTCACTGCAACCTCTGCATGCCGAGTTCAAGCGATTCTCGTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCGCCACCAGGCCTGGCTAATTTCGCGCTGTTGGCCCGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCCCCCAAAGTGTTGGCATTACAGACAGGAGCCACTGCGTCAGCCCAGAATTTCTGATTTAATTGGTTTGGCCCCTCCCCTCTCCCTTGGTAGGTTGTAAAATCTTCCCTCCCAGGTGATTCTAATCTATGCAAGGATGTGAACCACTGCTGCCTTTGGTGGCAAGGTAGAGGAAAAACAACCAAGTTCTGATGAGTTCATTCAAGACACACACAGGTATTATGTGACAGGCCTTTGGCTGGCACTGGTTATA
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AGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAGATATGTTTGAGGTTTTGGATACAGAACATTTATAGGATATCTTTTGGTGGTCCAAGAGGACTTGAGTGTACCTTGTAAATACAGGATTTTGTTTTTAATTAGATTGATTCACAGAGAACCAAACCTAAGGAATCACATCATTCATTCATTTGTTCATTTAATAAATTTGTAGGTTGAAGCATTTACCAAGTGCTGGCAATAGAAAGAAGTCCCGGGTGTGCTTTGTCAGTTTAGTCGGGACTACACAAATGAGTCAATAACTGTAGTGGAGTGATGCGATCTCAACTGCCAGGAATCCCCCGGCTCTCCTCTCTTCCTGTGCCTCTTCAGGTAATTAGCTATCCTTTCTTTCTTTTATTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTTCTTTCCAGATTCTGGACCTATTCCAGACTTACTAAAGGAAATTCTCTAAAGGTGAGGCAGTTTTTTAAAGACAGCAGCTCTCTCTGTCGTCCATGCTGGAGTGCAGTGGCCCGATCATAGCTCACTGCAGCCTCGACTTCTTGGGCTCAAGTGATCCTCCCCCTTCAGCCTCAATGAGTAGCTGGGACTACCGATGTGCACTACCACGCCCGGCAAACTAAAAAAATAATTATTTTTGGTAAAGACAGGGGTCTTGCGATGTTGCCCAGGCTGTTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAATGTGTTTGGATTACAGGCATGAGCCACTGAGCCCGGCCTAGCTACCCTGTCTGAGTTGTGCCCACTACACAAAGGTGTCAGCTACATGTGATGTCTGTGCATTTCTGGCCTGGACCGCACATTAAGTGCTCCGTAAACATCAGTCTCTATTATCAACAGTCTCTATTATCAATCAGTCTCTATTATCATCAGTCTCTATTATCATGAGTCTCTATTAAACAACAGTCTCTATTATCACAGTCTCTATTATGTGTTTTGGCTGAAAGAAAGTTCTCTAAAACCAGGAAATCAGGAATCAGCAGTTTTAAGTTCTCCAGGTTATATTTTAACATTGTGTTCATATGCAAAACAAAGGTTGTGAATCAGCACGAATGCTGGCAAGCCCTGGAAGGTTTGTGATCACGGACTTTCACGAGACCCCAAGGCAAGGAGAGACAGAAGCCCAGGACAACAGCATGGGCGCCGCTTTTTAGTCGGGCGCCGCTTTTTGGTCAGGCGCCACCTGGACTACATTTCCCATATCCAATTGCCGGGCTCCTGCAGGATTGGCCAGAACAACGCGGAAGTGATTACGGGTCGCCCAGCAACGGGCGGAGTCCTGGCCCGAAACTGGATGCGCACGCCCCTTCCCTGCGGCGGGGAGGCTGACAAGGCTCCGCTCTATCTCTAGCGCCTCGGAGCGCTCTCCGGCTTTGCTGTCTAGCCCGGCGGCAGCGCGATCTCTTAGGCACTTTCACCGCCTTCCTCTCCAGGCCCTGCCCCTTTGACGCCGGCCGTCGCGATATTGCGGAGACTGGATTTCAGCTTCGTGGTCGGCGGAGCGGCCCCTGGAGGGCGCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTCAGCCACGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAAGTAAGGGGGCCGCAGTGGGGCCGCGGACGCACCTGGGACCCTGCACAGCCCACGGACGCCACCTGCGCGGGGAGGACGCGCACTCCAGCGCAGCGCGTGCGGTGCAAAGTGAAAGTAACTGTTAAGGAGCTTCAGGGAAAAGGGTCCAGGGTTCCCAGTAGGGGCCGGCCCCCTTGGTGGGCCTCGGGTCCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCGCGGCGCGGCGAGGGCAAAGCGGCCTCATCCCCGCCAAAAAATAAAGATGTTTTAAAAAGCGCACATGCTCAGCTCCCTCCTGCAGGCTCTGGGTTGCAGGGATAGGAGTTTTGTTGTGTTTTGTTTTGTTTTGTCCAGACCGGTATTGCTCAGTCATCCAGGCTGGAGTGCAGGGGTGCCATCATAGCCCACTGTAGCCTCTACCTACTGGGTTCAGACAATCCTCTCATCTCAGCCTCTTGAGTGGCTGGGACTACAAGCGTGCACTACTATGCCCGACTAATTTTTTAAGTATTTGTAGAGACTAGGGTCGCACCATGTTGCCCAGGCTGGTCTCGAACTACTGGGCTCAAGCAGGCCACCTGCCTCAGCCTCCAGAATTGAGATTACAGGCGTGAGCCACTGCGCCTAGCCAGGAGTATTTTTTAGTAGCAGTCCTAGATAGCTTCACTATCATTTCCTGGGAAAGTTTTGGAAACCCCAGCAGAGCCTTCATCTTTAACTGTGTGACCTTGGGCCATTGAAATAACGTTTAATCTTGGTTTTTTCACCTGTAAAATGGGTTGATACGAGGGTCAGTTCAGGCACTGTGCGTAAAGCACATAGCACCGTGTCTAGTAGGTACTCTCTGTTCCTTAACTGTCGTTCCTTGATTGCTCTTAAGATACGACAGTGCCTCTTATATCGGCACCTTAGAATCACCTAGGAAATGTCCTAAATACACGTTTTGGGTCTCCATAGAGAACCTACTGTAGCCGACTCTCAACTTTGGGAGTCTCTTTTTTTAAGCTTTCCAGGTGAGGTGGAATATCACCTGGTTTTGAGAAACATGGATGTAAATCTGATTTTCAGCATCTGGGAAACTTTTTTTGTAAGAGCCTTTTTCTGGGCCCCACTTCCAGAGGGTTTTTCTTTTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCTCCCGGCCTTTTTTTTTTTTTTTTTAAAGACAGGGTCTCGCTCCGTCGCCCAAACTGGAGTGCCGTGGTGCGATCTCGGTTCACTGCAACCTCTGCATGCCGAGTTCAAGCGATTCTCGTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCGCCACCAGGCCTGGCTAATTTCGCGCTGTTGGCCCGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCCCCCAAAGTGTTGGCATTACAGACAGGAGCCACTGCGTCAGCCCAGAATTTCTGATTTAATTGGTTTGGCCCCTCCCCTCTCCCTTGGTAGGTTGTAAAATCTTCCCTCCCAGGTGATTCTAATCTATGCAAGGATGTGAACCACTGCTGCCTTTGGTGGCAAGGTAGAGGAAAAACAACCAAGTTCTGATGAGTTCATTCAAGACACACACAGGTATTATGTGACAGGCCTTTGGCTGGCACTGGTTATA
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Task1_train_22933
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The gene WWOX (WW domain containing oxidoreductase), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Developmental and epileptic encephalopathy, 1
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AGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAGATATGTTTGAGGTTTTGGATACAGAACATTTATAGGATATCTTTTGGTGGTCCAAGAGGACTTGAGTGTACCTTGTAAATACAGGATTTTGTTTTTAATTAGATTGATTCACAGAGAACCAAACCTAAGGAATCACATCATTCATTCATTTGTTCATTTAATAAATTTGTAGGTTGAAGCATTTACCAAGTGCTGGCAATAGAAAGAAGTCCCGGGTGTGCTTTGTCAGTTTAGTCGGGACTACACAAATGAGTCAATAACTGTAGTGGAGTGATGCGATCTCAACTGCCAGGAATCCCCCGGCTCTCCTCTCTTCCTGTGCCTCTTCAGGTAATTAGCTATCCTTTCTTTCTTTTATTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTTCTTTCCAGATTCTGGACCTATTCCAGACTTACTAAAGGAAATTCTCTAAAGGTGAGGCAGTTTTTTAAAGACAGCAGCTCTCTCTGTCGTCCATGCTGGAGTGCAGTGGCCCGATCATAGCTCACTGCAGCCTCGACTTCTTGGGCTCAAGTGATCCTCCCCCTTCAGCCTCAATGAGTAGCTGGGACTACCGATGTGCACTACCACGCCCGGCAAACTAAAAAAATAATTATTTTTGGTAAAGACAGGGGTCTTGCGATGTTGCCCAGGCTGTTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAATGTGTTTGGATTACAGGCATGAGCCACTGAGCCCGGCCTAGCTACCCTGTCTGAGTTGTGCCCACTACACAAAGGTGTCAGCTACATGTGATGTCTGTGCATTTCTGGCCTGGACCGCACATTAAGTGCTCCGTAAACATCAGTCTCTATTATCAACAGTCTCTATTATCAATCAGTCTCTATTATCATCAGTCTCTATTATCATGAGTCTCTATTAAACAACAGTCTCTATTATCACAGTCTCTATTATGTGTTTTGGCTGAAAGAAAGTTCTCTAAAACCAGGAAATCAGGAATCAGCAGTTTTAAGTTCTCCAGGTTATATTTTAACATTGTGTTCATATGCAAAACAAAGGTTGTGAATCAGCACGAATGCTGGCAAGCCCTGGAAGGTTTGTGATCACGGACTTTCACGAGACCCCAAGGCAAGGAGAGACAGAAGCCCAGGACAACAGCATGGGCGCCGCTTTTTAGTCGGGCGCCGCTTTTTGGTCAGGCGCCACCTGGACTACATTTCCCATATCCAATTGCCGGGCTCCTGCAGGATTGGCCAGAACAACGCGGAAGTGATTACGGGTCGCCCAGCAACGGGCGGAGTCCTGGCCCGAAACTGGATGCGCACGCCCCTTCCCTGCGGCGGGGAGGCTGACAAGGCTCCGCTCTATCTCTAGCGCCTCGGAGCGCTCTCCGGCTTTGCTGTCTAGCCCGGCGGCAGCGCGATCTCTTAGGCACTTTCACCGCCTTCCTCTCCAGGCCCTGCCCCTTTGACGCCGGCCGTCGCGATATTGCGGAGACTGGATTTCAGCTTCGTGGTCGGCGGAGCGGCCCCTGGAGGGCGCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTCAGCCATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAAGTAAGGGGGCCGCAGTGGGGCCGCGGACGCACCTGGGACCCTGCACAGCCCACGGACGCCACCTGCGCGGGGAGGACGCGCACTCCAGCGCAGCGCGTGCGGTGCAAAGTGAAAGTAACTGTTAAGGAGCTTCAGGGAAAAGGGTCCAGGGTTCCCAGTAGGGGCCGGCCCCCTTGGTGGGCCTCGGGTCCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCGCGGCGCGGCGAGGGCAAAGCGGCCTCATCCCCGCCAAAAAATAAAGATGTTTTAAAAAGCGCACATGCTCAGCTCCCTCCTGCAGGCTCTGGGTTGCAGGGATAGGAGTTTTGTTGTGTTTTGTTTTGTTTTGTCCAGACCGGTATTGCTCAGTCATCCAGGCTGGAGTGCAGGGGTGCCATCATAGCCCACTGTAGCCTCTACCTACTGGGTTCAGACAATCCTCTCATCTCAGCCTCTTGAGTGGCTGGGACTACAAGCGTGCACTACTATGCCCGACTAATTTTTTAAGTATTTGTAGAGACTAGGGTCGCACCATGTTGCCCAGGCTGGTCTCGAACTACTGGGCTCAAGCAGGCCACCTGCCTCAGCCTCCAGAATTGAGATTACAGGCGTGAGCCACTGCGCCTAGCCAGGAGTATTTTTTAGTAGCAGTCCTAGATAGCTTCACTATCATTTCCTGGGAAAGTTTTGGAAACCCCAGCAGAGCCTTCATCTTTAACTGTGTGACCTTGGGCCATTGAAATAACGTTTAATCTTGGTTTTTTCACCTGTAAAATGGGTTGATACGAGGGTCAGTTCAGGCACTGTGCGTAAAGCACATAGCACCGTGTCTAGTAGGTACTCTCTGTTCCTTAACTGTCGTTCCTTGATTGCTCTTAAGATACGACAGTGCCTCTTATATCGGCACCTTAGAATCACCTAGGAAATGTCCTAAATACACGTTTTGGGTCTCCATAGAGAACCTACTGTAGCCGACTCTCAACTTTGGGAGTCTCTTTTTTTAAGCTTTCCAGGTGAGGTGGAATATCACCTGGTTTTGAGAAACATGGATGTAAATCTGATTTTCAGCATCTGGGAAACTTTTTTTGTAAGAGCCTTTTTCTGGGCCCCACTTCCAGAGGGTTTTTCTTTTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCTCCCGGCCTTTTTTTTTTTTTTTTTAAAGACAGGGTCTCGCTCCGTCGCCCAAACTGGAGTGCCGTGGTGCGATCTCGGTTCACTGCAACCTCTGCATGCCGAGTTCAAGCGATTCTCGTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCGCCACCAGGCCTGGCTAATTTCGCGCTGTTGGCCCGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCCCCCAAAGTGTTGGCATTACAGACAGGAGCCACTGCGTCAGCCCAGAATTTCTGATTTAATTGGTTTGGCCCCTCCCCTCTCCCTTGGTAGGTTGTAAAATCTTCCCTCCCAGGTGATTCTAATCTATGCAAGGATGTGAACCACTGCTGCCTTTGGTGGCAAGGTAGAGGAAAAACAACCAAGTTCTGATGAGTTCATTCAAGACACACACAGGTATTATGTGACAGGCCTTTGGCTGGCACTGGTTATA
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AGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAGATATGTTTGAGGTTTTGGATACAGAACATTTATAGGATATCTTTTGGTGGTCCAAGAGGACTTGAGTGTACCTTGTAAATACAGGATTTTGTTTTTAATTAGATTGATTCACAGAGAACCAAACCTAAGGAATCACATCATTCATTCATTTGTTCATTTAATAAATTTGTAGGTTGAAGCATTTACCAAGTGCTGGCAATAGAAAGAAGTCCCGGGTGTGCTTTGTCAGTTTAGTCGGGACTACACAAATGAGTCAATAACTGTAGTGGAGTGATGCGATCTCAACTGCCAGGAATCCCCCGGCTCTCCTCTCTTCCTGTGCCTCTTCAGGTAATTAGCTATCCTTTCTTTCTTTTATTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTTCTTTCCAGATTCTGGACCTATTCCAGACTTACTAAAGGAAATTCTCTAAAGGTGAGGCAGTTTTTTAAAGACAGCAGCTCTCTCTGTCGTCCATGCTGGAGTGCAGTGGCCCGATCATAGCTCACTGCAGCCTCGACTTCTTGGGCTCAAGTGATCCTCCCCCTTCAGCCTCAATGAGTAGCTGGGACTACCGATGTGCACTACCACGCCCGGCAAACTAAAAAAATAATTATTTTTGGTAAAGACAGGGGTCTTGCGATGTTGCCCAGGCTGTTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAATGTGTTTGGATTACAGGCATGAGCCACTGAGCCCGGCCTAGCTACCCTGTCTGAGTTGTGCCCACTACACAAAGGTGTCAGCTACATGTGATGTCTGTGCATTTCTGGCCTGGACCGCACATTAAGTGCTCCGTAAACATCAGTCTCTATTATCAACAGTCTCTATTATCAATCAGTCTCTATTATCATCAGTCTCTATTATCATGAGTCTCTATTAAACAACAGTCTCTATTATCACAGTCTCTATTATGTGTTTTGGCTGAAAGAAAGTTCTCTAAAACCAGGAAATCAGGAATCAGCAGTTTTAAGTTCTCCAGGTTATATTTTAACATTGTGTTCATATGCAAAACAAAGGTTGTGAATCAGCACGAATGCTGGCAAGCCCTGGAAGGTTTGTGATCACGGACTTTCACGAGACCCCAAGGCAAGGAGAGACAGAAGCCCAGGACAACAGCATGGGCGCCGCTTTTTAGTCGGGCGCCGCTTTTTGGTCAGGCGCCACCTGGACTACATTTCCCATATCCAATTGCCGGGCTCCTGCAGGATTGGCCAGAACAACGCGGAAGTGATTACGGGTCGCCCAGCAACGGGCGGAGTCCTGGCCCGAAACTGGATGCGCACGCCCCTTCCCTGCGGCGGGGAGGCTGACAAGGCTCCGCTCTATCTCTAGCGCCTCGGAGCGCTCTCCGGCTTTGCTGTCTAGCCCGGCGGCAGCGCGATCTCTTAGGCACTTTCACCGCCTTCCTCTCCAGGCCCTGCCCCTTTGACGCCGGCCGTCGCGATATTGCGGAGACTGGATTTCAGCTTCGTGGTCGGCGGAGCGGCCCCTGGAGGGCGCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTCAGCCACGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAAGTAAGGGGGCCGCAGTGGGGCCGCGGACGCACCTGGGACCCTGCACAGCCCACGGACGCCACCTGCGCGGGGAGGACGCGCACTCCAGCGCAGCGCGTGCGGTGCAAAGTGAAAGTAACTGTTAAGGAGCTTCAGGGAAAAGGGTCCAGGGTTCCCAGTAGGGGCCGGCCCCCTTGGTGGGCCTCGGGTCCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCGCGGCGCGGCGAGGGCAAAGCGGCCTCATCCCCGCCAAAAAATAAAGATGTTTTAAAAAGCGCACATGCTCAGCTCCCTCCTGCAGGCTCTGGGTTGCAGGGATAGGAGTTTTGTTGTGTTTTGTTTTGTTTTGTCCAGACCGGTATTGCTCAGTCATCCAGGCTGGAGTGCAGGGGTGCCATCATAGCCCACTGTAGCCTCTACCTACTGGGTTCAGACAATCCTCTCATCTCAGCCTCTTGAGTGGCTGGGACTACAAGCGTGCACTACTATGCCCGACTAATTTTTTAAGTATTTGTAGAGACTAGGGTCGCACCATGTTGCCCAGGCTGGTCTCGAACTACTGGGCTCAAGCAGGCCACCTGCCTCAGCCTCCAGAATTGAGATTACAGGCGTGAGCCACTGCGCCTAGCCAGGAGTATTTTTTAGTAGCAGTCCTAGATAGCTTCACTATCATTTCCTGGGAAAGTTTTGGAAACCCCAGCAGAGCCTTCATCTTTAACTGTGTGACCTTGGGCCATTGAAATAACGTTTAATCTTGGTTTTTTCACCTGTAAAATGGGTTGATACGAGGGTCAGTTCAGGCACTGTGCGTAAAGCACATAGCACCGTGTCTAGTAGGTACTCTCTGTTCCTTAACTGTCGTTCCTTGATTGCTCTTAAGATACGACAGTGCCTCTTATATCGGCACCTTAGAATCACCTAGGAAATGTCCTAAATACACGTTTTGGGTCTCCATAGAGAACCTACTGTAGCCGACTCTCAACTTTGGGAGTCTCTTTTTTTAAGCTTTCCAGGTGAGGTGGAATATCACCTGGTTTTGAGAAACATGGATGTAAATCTGATTTTCAGCATCTGGGAAACTTTTTTTGTAAGAGCCTTTTTCTGGGCCCCACTTCCAGAGGGTTTTTCTTTTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCTCCCGGCCTTTTTTTTTTTTTTTTTAAAGACAGGGTCTCGCTCCGTCGCCCAAACTGGAGTGCCGTGGTGCGATCTCGGTTCACTGCAACCTCTGCATGCCGAGTTCAAGCGATTCTCGTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCGCCACCAGGCCTGGCTAATTTCGCGCTGTTGGCCCGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCCCCCAAAGTGTTGGCATTACAGACAGGAGCCACTGCGTCAGCCCAGAATTTCTGATTTAATTGGTTTGGCCCCTCCCCTCTCCCTTGGTAGGTTGTAAAATCTTCCCTCCCAGGTGATTCTAATCTATGCAAGGATGTGAACCACTGCTGCCTTTGGTGGCAAGGTAGAGGAAAAACAACCAAGTTCTGATGAGTTCATTCAAGACACACACAGGTATTATGTGACAGGCCTTTGGCTGGCACTGGTTATA
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Task1_train_22934
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A genomic change on Chromosome 16 affects WWOX (WW domain containing oxidoreductase). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Autosomal recessive spinocerebellar ataxia 12
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GAACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCTGAAGTACTGGGATTACAGACATGAGCCACCGCGCCCGGCCACAGAGCTGCTTTTTTTTGCAAGTGATATTGGATGGTGGTTGATGTACAAAGTAGGAGTTTGTCCTTGCTACTGATACCGTAGCTGGTACAAGGTTTTAATCGTTCTCCAAGCACTGTCACAGGTGTCATGTGTCTCGCCTTTTCAGCAGCTCTGTGAGGTGGCAGTAGCCCTGAGGAGACTGGCTGGACTCAGCTAGCATGGGCTGCTCAGGTCTTCAGCGTGCTGAGTGAGGCATTCCTGCACTATGACAGAGACCCAGCTGCCAAGACTTTGTCAAACAGACCAGAAGCCAGCAGTTCATGAAAAGACCTTGCTTGCAAGTTGTAGAATTTTTTAGAAAATTCGTGCTCTCTGTATTTATTTTCTGTAAAATAATTGATAGGGAAAGAATGTTCACATCTTATCATCTAGATGTTGCTGATTAAATAATATAACTTTCTGGGTTGGCATGAGTAGGTGAACTTTTAGGAAACGCAGCCTACCCTTCGAATACCTCTTGTAGCACCTGGCTGTTTCCCTTTTGAAATAATTGTATGTTTTCCTGGATACCTTATTACCTGGTGACACGTGTTTCTAGTTATTGACCTATGTTTTTAATTATAACTTTGGGTGGTGGTCTGAAATGAAATGTTAAGTTTGACGCAAAAATAGGACTAGTTTGTGTAACTGATTTGTTCAGAATAACAGCTTACATTTCTCAGAGCTTTTTGTATGCCAAGTGCTATGCGAAACCCTGGATGTACAATATTCTTATAGTAGCCCCTGAGACCAGTGCTAGGATTATTTCCATTTTGCAGATGAGGGGATGGAGATTAAGGAGTGGGGTCACTTGACCAAAGGTGCACAGCGCACAGCTAGATGCCCTATGGGAAGGTCTTACTGCATCTCTTAACTACCTCTTGGGACCAGTTAGGAACCAGTGCTTAATGAAACACTTTGAAGTTACATCTGTGGAAAGAATAAACATTTTAGCTGGGCAAGGTGGCACGGGCTTCTAGTCCCAGCCACTCAAGAGGCTGAAATAGGAGGGTTACTTGAGTCCAGGAGTTCCAGTCCAGCCTGGGCAACATAGTGAGACCCTGATTCTTTAAAAAGAAACACAAATAAATAAACATTTTAAGAGATTATATAAATTAGATATTATGAATTTTGTCCCTACATCGTGGAATAAAACCAAAACAAATACACAGCAAAATGCCTCTAGATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGCGGCGTGATCTCGGCTCACTGCAACTTCTGCTTCCCTGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGTGCCACTGTCCCCAGCTAATTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCTGCTCCCCTAGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCTCCCGACGGCCTCTAGATATTTTGAGTGATTCAGCAAACCTCCTAAAGTTGACCCCGTAGCTGGGGTCACAGTCCTCTTTCTCCTTCTTCCCCCTACTTCCTTCTTATATCTGGCTATCTGGGAGAGAAAAAATTTAATACAATTGATTACTTTTTAGAAGAGTTAATTTTTACTTATTACTGTGGATTTTTTGTTTTTTAACAGTCACACCGAGGAGAAGACTCAGTGGGAACATCCAAAAACTGGAAAAAGAAAACGAGTGGCAGGAGGTTTGTATGTTGTTGTCTAAGGATCTTGGATGGAAGCATTAAGTAGATGAGGAAATGTCACTGGCAGAGAGGTGACAGGTTATTGTGTGTTTAGGGAGGGCTCTCTGGTAGAGAACCAGACTCCCACTCTGAGGAGCTTATGGGATTTGGCAGAAGAAGATGATGAGATCATAGGGTGGAGTGAGGATGATTTCTTACTGGTCTTAAAGTACCAAAATGGCCAGATGTGGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGATGGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGGCCAACATGTTGAAAGCGCATCTCTTCTAAAAATACAAAAATTAGCTGGGCATGGTTGCATGCGCCTGTAATTCCAGCTACTTTGGAGGCTGAGGCACGAGAAGTGCTCAAACCCAGGAGCTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCGCTCCAGCCTCGGTGACAGAGTGAGATGCTGTCTGAAAAATAGCGACAACAACAACAACAAAAACCAGAAAATAATTGAGGCCTTTGATTCACAGTTTATGATGTTTTCCTATCGTTGCAGTGTTTATAAAATTGTTCTTGGCTATACTATGGAATTAAATATATAAGTATTTGGAAATTTCGTAAAGATTACCATGACTTCTAGGTGATTCTGAGATAATGTATGATCCACGGAATAGAAGTATAAGAAAGGGACAGGCACGGTGGCTTGTGCTTGTGATCCCAGCCCTTTGGGAGGCAGAGGTGGGAGGATCACTTGTGCCTGGGAATTCGAGGTGAGCCTAGGCAACATAGTGAGACCCCATCTCAAAAAAAAATATGAGAAGGTTCCTGCCCTTAAGAGGTTTAGGATCCAGCTGAAGAATCAACATGTGCACATGAAAAAAAATGGCCGTGCCCTCTAATGTCATATGAGGTCAGCGTATGAATGACGTTGGGTGCCTGCCCTGCATATACATATGTTCTTTGAGCTCATTCAAGGGAGAATTCCCATGGATTGGCACAACCAGTATGGTTTATAGAGCGATCAGGAATAAAATAGGTTTTCTTCAAAACAAGAGGCAAAAATGTGGAGCCCAGGGTGGGATCAGGGGCCTTCTGCAGCTGTCGCAGTTGGAACATGTGACGAAAGCCAGTTGATGTGACAACTGCTGGGTGGGAGGGACAGGCTTGGGGGCGGGGCTGGGAGGGCTCCTTCCCTTCCTGACCCAGGGATGGTCTTTACTTCTCCCTGGCACCTGTAGACCTGTCTTTCTTGTGTTTCAGATTTGCCATACGGATGGGAACAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGAGTAAGTGTCTGCAAAGAAACCACTCTCAGCTGTTTTGCTTTTTAATAGGAATTTTTAATTATAAAAGTAATACATAGTAACTGTAGAAAAATACAAAGTATAACAGTGTGTATCTGTAATCTTAGCAGAAGTGACTACTTTTAACATCGCTGGAACTTTTAACATCGCTAGATTTATTCTTCTATTTTCCCCGCACACGCATCCTTAAAAAAAAAAAGTAGGGAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGAAGTGGGTGGATCCTGAGGTCAAGAGATCGAGACCATTCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATATAAAAATGAGCTGGGTGTGGTGGCACGTGCCTGTGGTCCCTGCTACTCGGGAGGGTAAGGCGGGAGAATCACTTGAACCCAGGAGGCGGAAGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAATGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAGAGGGAATGCACTGTGTGGACTGTTTAGTAACCTGCTTTTTCCATGTAATATATTATGAGCATTTTCTTGTATCCATATCTATTTTTCAAAAAGATGCTATTTAGCAGCTCTAGAGTTATTATTTTGTACAGATATACTA
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GAACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCTGAAGTACTGGGATTACAGACATGAGCCACCGCGCCCGGCCACAGAGCTGCTTTTTTTTGCAAGTGATATTGGATGGTGGTTGATGTACAAAGTAGGAGTTTGTCCTTGCTACTGATACCGTAGCTGGTACAAGGTTTTAATCGTTCTCCAAGCACTGTCACAGGTGTCATGTGTCTCGCCTTTTCAGCAGCTCTGTGAGGTGGCAGTAGCCCTGAGGAGACTGGCTGGACTCAGCTAGCATGGGCTGCTCAGGTCTTCAGCGTGCTGAGTGAGGCATTCCTGCACTATGACAGAGACCCAGCTGCCAAGACTTTGTCAAACAGACCAGAAGCCAGCAGTTCATGAAAAGACCTTGCTTGCAAGTTGTAGAATTTTTTAGAAAATTCGTGCTCTCTGTATTTATTTTCTGTAAAATAATTGATAGGGAAAGAATGTTCACATCTTATCATCTAGATGTTGCTGATTAAATAATATAACTTTCTGGGTTGGCATGAGTAGGTGAACTTTTAGGAAACGCAGCCTACCCTTCGAATACCTCTTGTAGCACCTGGCTGTTTCCCTTTTGAAATAATTGTATGTTTTCCTGGATACCTTATTACCTGGTGACACGTGTTTCTAGTTATTGACCTATGTTTTTAATTATAACTTTGGGTGGTGGTCTGAAATGAAATGTTAAGTTTGACGCAAAAATAGGACTAGTTTGTGTAACTGATTTGTTCAGAATAACAGCTTACATTTCTCAGAGCTTTTTGTATGCCAAGTGCTATGCGAAACCCTGGATGTACAATATTCTTATAGTAGCCCCTGAGACCAGTGCTAGGATTATTTCCATTTTGCAGATGAGGGGATGGAGATTAAGGAGTGGGGTCACTTGACCAAAGGTGCACAGCGCACAGCTAGATGCCCTATGGGAAGGTCTTACTGCATCTCTTAACTACCTCTTGGGACCAGTTAGGAACCAGTGCTTAATGAAACACTTTGAAGTTACATCTGTGGAAAGAATAAACATTTTAGCTGGGCAAGGTGGCACGGGCTTCTAGTCCCAGCCACTCAAGAGGCTGAAATAGGAGGGTTACTTGAGTCCAGGAGTTCCAGTCCAGCCTGGGCAACATAGTGAGACCCTGATTCTTTAAAAAGAAACACAAATAAATAAACATTTTAAGAGATTATATAAATTAGATATTATGAATTTTGTCCCTACATCGTGGAATAAAACCAAAACAAATACACAGCAAAATGCCTCTAGATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGCGGCGTGATCTCGGCTCACTGCAACTTCTGCTTCCCTGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGTGCCACTGTCCCCAGCTAATTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCTGCTCCCCTAGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCTCCCGACGGCCTCTAGATATTTTGAGTGATTCAGCAAACCTCCTAAAGTTGACCCCGTAGCTGGGGTCACAGTCCTCTTTCTCCTTCTTCCCCCTACTTCCTTCTTATATCTGGCTATCTGGGAGAGAAAAAATTTAATACAATTGATTACTTTTTAGAAGAGTTAATTTTTACTTATTACTGTGGATTTTTTGTTTTTTAACAGTCACACCGAGGAGAAGACTCAGTGGGAACATACAAAAACTGGAAAAAGAAAACGAGTGGCAGGAGGTTTGTATGTTGTTGTCTAAGGATCTTGGATGGAAGCATTAAGTAGATGAGGAAATGTCACTGGCAGAGAGGTGACAGGTTATTGTGTGTTTAGGGAGGGCTCTCTGGTAGAGAACCAGACTCCCACTCTGAGGAGCTTATGGGATTTGGCAGAAGAAGATGATGAGATCATAGGGTGGAGTGAGGATGATTTCTTACTGGTCTTAAAGTACCAAAATGGCCAGATGTGGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGATGGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGGCCAACATGTTGAAAGCGCATCTCTTCTAAAAATACAAAAATTAGCTGGGCATGGTTGCATGCGCCTGTAATTCCAGCTACTTTGGAGGCTGAGGCACGAGAAGTGCTCAAACCCAGGAGCTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCGCTCCAGCCTCGGTGACAGAGTGAGATGCTGTCTGAAAAATAGCGACAACAACAACAACAAAAACCAGAAAATAATTGAGGCCTTTGATTCACAGTTTATGATGTTTTCCTATCGTTGCAGTGTTTATAAAATTGTTCTTGGCTATACTATGGAATTAAATATATAAGTATTTGGAAATTTCGTAAAGATTACCATGACTTCTAGGTGATTCTGAGATAATGTATGATCCACGGAATAGAAGTATAAGAAAGGGACAGGCACGGTGGCTTGTGCTTGTGATCCCAGCCCTTTGGGAGGCAGAGGTGGGAGGATCACTTGTGCCTGGGAATTCGAGGTGAGCCTAGGCAACATAGTGAGACCCCATCTCAAAAAAAAATATGAGAAGGTTCCTGCCCTTAAGAGGTTTAGGATCCAGCTGAAGAATCAACATGTGCACATGAAAAAAAATGGCCGTGCCCTCTAATGTCATATGAGGTCAGCGTATGAATGACGTTGGGTGCCTGCCCTGCATATACATATGTTCTTTGAGCTCATTCAAGGGAGAATTCCCATGGATTGGCACAACCAGTATGGTTTATAGAGCGATCAGGAATAAAATAGGTTTTCTTCAAAACAAGAGGCAAAAATGTGGAGCCCAGGGTGGGATCAGGGGCCTTCTGCAGCTGTCGCAGTTGGAACATGTGACGAAAGCCAGTTGATGTGACAACTGCTGGGTGGGAGGGACAGGCTTGGGGGCGGGGCTGGGAGGGCTCCTTCCCTTCCTGACCCAGGGATGGTCTTTACTTCTCCCTGGCACCTGTAGACCTGTCTTTCTTGTGTTTCAGATTTGCCATACGGATGGGAACAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGAGTAAGTGTCTGCAAAGAAACCACTCTCAGCTGTTTTGCTTTTTAATAGGAATTTTTAATTATAAAAGTAATACATAGTAACTGTAGAAAAATACAAAGTATAACAGTGTGTATCTGTAATCTTAGCAGAAGTGACTACTTTTAACATCGCTGGAACTTTTAACATCGCTAGATTTATTCTTCTATTTTCCCCGCACACGCATCCTTAAAAAAAAAAAGTAGGGAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGAAGTGGGTGGATCCTGAGGTCAAGAGATCGAGACCATTCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATATAAAAATGAGCTGGGTGTGGTGGCACGTGCCTGTGGTCCCTGCTACTCGGGAGGGTAAGGCGGGAGAATCACTTGAACCCAGGAGGCGGAAGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAATGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAGAGGGAATGCACTGTGTGGACTGTTTAGTAACCTGCTTTTTCCATGTAATATATTATGAGCATTTTCTTGTATCCATATCTATTTTTCAAAAAGATGCTATTTAGCAGCTCTAGAGTTATTATTTTGTACAGATATACTA
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Task1_train_22935
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Gene WWOX (WW domain containing oxidoreductase) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Developmental and epileptic encephalopathy, 28
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AACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCTGAAGTACTGGGATTACAGACATGAGCCACCGCGCCCGGCCACAGAGCTGCTTTTTTTTGCAAGTGATATTGGATGGTGGTTGATGTACAAAGTAGGAGTTTGTCCTTGCTACTGATACCGTAGCTGGTACAAGGTTTTAATCGTTCTCCAAGCACTGTCACAGGTGTCATGTGTCTCGCCTTTTCAGCAGCTCTGTGAGGTGGCAGTAGCCCTGAGGAGACTGGCTGGACTCAGCTAGCATGGGCTGCTCAGGTCTTCAGCGTGCTGAGTGAGGCATTCCTGCACTATGACAGAGACCCAGCTGCCAAGACTTTGTCAAACAGACCAGAAGCCAGCAGTTCATGAAAAGACCTTGCTTGCAAGTTGTAGAATTTTTTAGAAAATTCGTGCTCTCTGTATTTATTTTCTGTAAAATAATTGATAGGGAAAGAATGTTCACATCTTATCATCTAGATGTTGCTGATTAAATAATATAACTTTCTGGGTTGGCATGAGTAGGTGAACTTTTAGGAAACGCAGCCTACCCTTCGAATACCTCTTGTAGCACCTGGCTGTTTCCCTTTTGAAATAATTGTATGTTTTCCTGGATACCTTATTACCTGGTGACACGTGTTTCTAGTTATTGACCTATGTTTTTAATTATAACTTTGGGTGGTGGTCTGAAATGAAATGTTAAGTTTGACGCAAAAATAGGACTAGTTTGTGTAACTGATTTGTTCAGAATAACAGCTTACATTTCTCAGAGCTTTTTGTATGCCAAGTGCTATGCGAAACCCTGGATGTACAATATTCTTATAGTAGCCCCTGAGACCAGTGCTAGGATTATTTCCATTTTGCAGATGAGGGGATGGAGATTAAGGAGTGGGGTCACTTGACCAAAGGTGCACAGCGCACAGCTAGATGCCCTATGGGAAGGTCTTACTGCATCTCTTAACTACCTCTTGGGACCAGTTAGGAACCAGTGCTTAATGAAACACTTTGAAGTTACATCTGTGGAAAGAATAAACATTTTAGCTGGGCAAGGTGGCACGGGCTTCTAGTCCCAGCCACTCAAGAGGCTGAAATAGGAGGGTTACTTGAGTCCAGGAGTTCCAGTCCAGCCTGGGCAACATAGTGAGACCCTGATTCTTTAAAAAGAAACACAAATAAATAAACATTTTAAGAGATTATATAAATTAGATATTATGAATTTTGTCCCTACATCGTGGAATAAAACCAAAACAAATACACAGCAAAATGCCTCTAGATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGCGGCGTGATCTCGGCTCACTGCAACTTCTGCTTCCCTGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGTGCCACTGTCCCCAGCTAATTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCTGCTCCCCTAGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCTCCCGACGGCCTCTAGATATTTTGAGTGATTCAGCAAACCTCCTAAAGTTGACCCCGTAGCTGGGGTCACAGTCCTCTTTCTCCTTCTTCCCCCTACTTCCTTCTTATATCTGGCTATCTGGGAGAGAAAAAATTTAATACAATTGATTACTTTTTAGAAGAGTTAATTTTTACTTATTACTGTGGATTTTTTGTTTTTTAACAGTCACACCGAGGAGAAGACTCAGTGGGAACATCCAAAAACTGGAAAAAGAAAACGAGTGGCAGGAGGTTTGTATGTTGTTGTCTAAGGATCTTGGATGGAAGCATTAAGTAGATGAGGAAATGTCACTGGCAGAGAGGTGACAGGTTATTGTGTGTTTAGGGAGGGCTCTCTGGTAGAGAACCAGACTCCCACTCTGAGGAGCTTATGGGATTTGGCAGAAGAAGATGATGAGATCATAGGGTGGAGTGAGGATGATTTCTTACTGGTCTTAAAGTACCAAAATGGCCAGATGTGGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGATGGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGGCCAACATGTTGAAAGCGCATCTCTTCTAAAAATACAAAAATTAGCTGGGCATGGTTGCATGCGCCTGTAATTCCAGCTACTTTGGAGGCTGAGGCACGAGAAGTGCTCAAACCCAGGAGCTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCGCTCCAGCCTCGGTGACAGAGTGAGATGCTGTCTGAAAAATAGCGACAACAACAACAACAAAAACCAGAAAATAATTGAGGCCTTTGATTCACAGTTTATGATGTTTTCCTATCGTTGCAGTGTTTATAAAATTGTTCTTGGCTATACTATGGAATTAAATATATAAGTATTTGGAAATTTCGTAAAGATTACCATGACTTCTAGGTGATTCTGAGATAATGTATGATCCACGGAATAGAAGTATAAGAAAGGGACAGGCACGGTGGCTTGTGCTTGTGATCCCAGCCCTTTGGGAGGCAGAGGTGGGAGGATCACTTGTGCCTGGGAATTCGAGGTGAGCCTAGGCAACATAGTGAGACCCCATCTCAAAAAAAAATATGAGAAGGTTCCTGCCCTTAAGAGGTTTAGGATCCAGCTGAAGAATCAACATGTGCACATGAAAAAAAATGGCCGTGCCCTCTAATGTCATATGAGGTCAGCGTATGAATGACGTTGGGTGCCTGCCCTGCATATACATATGTTCTTTGAGCTCATTCAAGGGAGAATTCCCATGGATTGGCACAACCAGTATGGTTTATAGAGCGATCAGGAATAAAATAGGTTTTCTTCAAAACAAGAGGCAAAAATGTGGAGCCCAGGGTGGGATCAGGGGCCTTCTGCAGCTGTCGCAGTTGGAACATGTGACGAAAGCCAGTTGATGTGACAACTGCTGGGTGGGAGGGACAGGCTTGGGGGCGGGGCTGGGAGGGCTCCTTCCCTTCCTGACCCAGGGATGGTCTTTACTTCTCCCTGGCACCTGTAGACCTGTCTTTCTTGTGTTTCAGATTTGCCATACGGATGGGAACAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGAGTAAGTGTCTGCAAAGAAACCACTCTCAGCTGTTTTGCTTTTTAATAGGAATTTTTAATTATAAAAGTAATACATAGTAACTGTAGAAAAATACAAAGTATAACAGTGTGTATCTGTAATCTTAGCAGAAGTGACTACTTTTAACATCGCTGGAACTTTTAACATCGCTAGATTTATTCTTCTATTTTCCCCGCACACGCATCCTTAAAAAAAAAAAGTAGGGAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGAAGTGGGTGGATCCTGAGGTCAAGAGATCGAGACCATTCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATATAAAAATGAGCTGGGTGTGGTGGCACGTGCCTGTGGTCCCTGCTACTCGGGAGGGTAAGGCGGGAGAATCACTTGAACCCAGGAGGCGGAAGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAATGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAGAGGGAATGCACTGTGTGGACTGTTTAGTAACCTGCTTTTTCCATGTAATATATTATGAGCATTTTCTTGTATCCATATCTATTTTTCAAAAAGATGCTATTTAGCAGCTCTAGAGTTATTATTTTGTACAGATATACTAT
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AACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCTGAAGTACTGGGATTACAGACATGAGCCACCGCGCCCGGCCACAGAGCTGCTTTTTTTTGCAAGTGATATTGGATGGTGGTTGATGTACAAAGTAGGAGTTTGTCCTTGCTACTGATACCGTAGCTGGTACAAGGTTTTAATCGTTCTCCAAGCACTGTCACAGGTGTCATGTGTCTCGCCTTTTCAGCAGCTCTGTGAGGTGGCAGTAGCCCTGAGGAGACTGGCTGGACTCAGCTAGCATGGGCTGCTCAGGTCTTCAGCGTGCTGAGTGAGGCATTCCTGCACTATGACAGAGACCCAGCTGCCAAGACTTTGTCAAACAGACCAGAAGCCAGCAGTTCATGAAAAGACCTTGCTTGCAAGTTGTAGAATTTTTTAGAAAATTCGTGCTCTCTGTATTTATTTTCTGTAAAATAATTGATAGGGAAAGAATGTTCACATCTTATCATCTAGATGTTGCTGATTAAATAATATAACTTTCTGGGTTGGCATGAGTAGGTGAACTTTTAGGAAACGCAGCCTACCCTTCGAATACCTCTTGTAGCACCTGGCTGTTTCCCTTTTGAAATAATTGTATGTTTTCCTGGATACCTTATTACCTGGTGACACGTGTTTCTAGTTATTGACCTATGTTTTTAATTATAACTTTGGGTGGTGGTCTGAAATGAAATGTTAAGTTTGACGCAAAAATAGGACTAGTTTGTGTAACTGATTTGTTCAGAATAACAGCTTACATTTCTCAGAGCTTTTTGTATGCCAAGTGCTATGCGAAACCCTGGATGTACAATATTCTTATAGTAGCCCCTGAGACCAGTGCTAGGATTATTTCCATTTTGCAGATGAGGGGATGGAGATTAAGGAGTGGGGTCACTTGACCAAAGGTGCACAGCGCACAGCTAGATGCCCTATGGGAAGGTCTTACTGCATCTCTTAACTACCTCTTGGGACCAGTTAGGAACCAGTGCTTAATGAAACACTTTGAAGTTACATCTGTGGAAAGAATAAACATTTTAGCTGGGCAAGGTGGCACGGGCTTCTAGTCCCAGCCACTCAAGAGGCTGAAATAGGAGGGTTACTTGAGTCCAGGAGTTCCAGTCCAGCCTGGGCAACATAGTGAGACCCTGATTCTTTAAAAAGAAACACAAATAAATAAACATTTTAAGAGATTATATAAATTAGATATTATGAATTTTGTCCCTACATCGTGGAATAAAACCAAAACAAATACACAGCAAAATGCCTCTAGATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGCGGCGTGATCTCGGCTCACTGCAACTTCTGCTTCCCTGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGTGCCACTGTCCCCAGCTAATTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCTGCTCCCCTAGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCTCCCGACGGCCTCTAGATATTTTGAGTGATTCAGCAAACCTCCTAAAGTTGACCCCGTAGCTGGGGTCACAGTCCTCTTTCTCCTTCTTCCCCCTACTTCCTTCTTATATCTGGCTATCTGGGAGAGAAAAAATTTAATACAATTGATTACTTTTTAGAAGAGTTAATTTTTACTTATTACTGTGGATTTTTTGTTTTTTAACAGTCACACCGAGGAGAAGACTCAGTGGGAACATCGAAAAACTGGAAAAAGAAAACGAGTGGCAGGAGGTTTGTATGTTGTTGTCTAAGGATCTTGGATGGAAGCATTAAGTAGATGAGGAAATGTCACTGGCAGAGAGGTGACAGGTTATTGTGTGTTTAGGGAGGGCTCTCTGGTAGAGAACCAGACTCCCACTCTGAGGAGCTTATGGGATTTGGCAGAAGAAGATGATGAGATCATAGGGTGGAGTGAGGATGATTTCTTACTGGTCTTAAAGTACCAAAATGGCCAGATGTGGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGATGGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGGCCAACATGTTGAAAGCGCATCTCTTCTAAAAATACAAAAATTAGCTGGGCATGGTTGCATGCGCCTGTAATTCCAGCTACTTTGGAGGCTGAGGCACGAGAAGTGCTCAAACCCAGGAGCTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCGCTCCAGCCTCGGTGACAGAGTGAGATGCTGTCTGAAAAATAGCGACAACAACAACAACAAAAACCAGAAAATAATTGAGGCCTTTGATTCACAGTTTATGATGTTTTCCTATCGTTGCAGTGTTTATAAAATTGTTCTTGGCTATACTATGGAATTAAATATATAAGTATTTGGAAATTTCGTAAAGATTACCATGACTTCTAGGTGATTCTGAGATAATGTATGATCCACGGAATAGAAGTATAAGAAAGGGACAGGCACGGTGGCTTGTGCTTGTGATCCCAGCCCTTTGGGAGGCAGAGGTGGGAGGATCACTTGTGCCTGGGAATTCGAGGTGAGCCTAGGCAACATAGTGAGACCCCATCTCAAAAAAAAATATGAGAAGGTTCCTGCCCTTAAGAGGTTTAGGATCCAGCTGAAGAATCAACATGTGCACATGAAAAAAAATGGCCGTGCCCTCTAATGTCATATGAGGTCAGCGTATGAATGACGTTGGGTGCCTGCCCTGCATATACATATGTTCTTTGAGCTCATTCAAGGGAGAATTCCCATGGATTGGCACAACCAGTATGGTTTATAGAGCGATCAGGAATAAAATAGGTTTTCTTCAAAACAAGAGGCAAAAATGTGGAGCCCAGGGTGGGATCAGGGGCCTTCTGCAGCTGTCGCAGTTGGAACATGTGACGAAAGCCAGTTGATGTGACAACTGCTGGGTGGGAGGGACAGGCTTGGGGGCGGGGCTGGGAGGGCTCCTTCCCTTCCTGACCCAGGGATGGTCTTTACTTCTCCCTGGCACCTGTAGACCTGTCTTTCTTGTGTTTCAGATTTGCCATACGGATGGGAACAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGAGTAAGTGTCTGCAAAGAAACCACTCTCAGCTGTTTTGCTTTTTAATAGGAATTTTTAATTATAAAAGTAATACATAGTAACTGTAGAAAAATACAAAGTATAACAGTGTGTATCTGTAATCTTAGCAGAAGTGACTACTTTTAACATCGCTGGAACTTTTAACATCGCTAGATTTATTCTTCTATTTTCCCCGCACACGCATCCTTAAAAAAAAAAAGTAGGGAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGAAGTGGGTGGATCCTGAGGTCAAGAGATCGAGACCATTCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATATAAAAATGAGCTGGGTGTGGTGGCACGTGCCTGTGGTCCCTGCTACTCGGGAGGGTAAGGCGGGAGAATCACTTGAACCCAGGAGGCGGAAGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAATGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAGAGGGAATGCACTGTGTGGACTGTTTAGTAACCTGCTTTTTCCATGTAATATATTATGAGCATTTTCTTGTATCCATATCTATTTTTCAAAAAGATGCTATTTAGCAGCTCTAGAGTTATTATTTTGTACAGATATACTAT
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Task1_train_22936
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A change on Chromosome 16 affects gene WWOX (WW domain containing oxidoreductase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Malignant tumor of esophagus
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GTTTCAAGGTCTCATTTCTGTATCCTTGATGACGTTTCTGGCCATCAGCTTTGTTGATGACTTTAGAGCAGCTATGTCATTTAACACTAGAAATTGGATGTCACCGAGTCCTGTGGAAGGGATATTTAATTTCCATTAAAACATGAATTTCATTCTGCCCTTGCCATGCTTTTCTTGGTCTTAGCCCAACCTGAGCTGCTGATATTAAGGAATAATAGGATAATTCCATAATTTTCATTTTACCTTTTGCTTTTTGTTTTCCATAGCAGTTATCTAGAGGATTCCCATTATGCTTCTTCATTACCCGGTGCCCAGAATGAACTTATAGAAGCAGAATATGAGGGGTCCTTTGACAAACATGAGACTGTTTAGAAAATTCCTTTTGTTTGCTGTGATCCATTTTGTAAGGGAAGTCACTATAATGTTGTTATTTAAGAGAAAGAGACAAACGGAAAGAAACAAACAGCTGGTGTTTAACGACTCCGTCAGACCCAATTATAAAGCATCAACTAGTTACGTTGATTTGTGTACATCCATGCCATGGGTATACTTAAAAACATTAGATTTTGCCAGAACTCATCTTGGCTTTGTTTACATTTTTCTTTTAAACGTATAAGACTATTGATGGTACCTCACCAAGGTTATAACCCCTTTATAATCATTAATTTTTAATCTAGAAAAGAGTCTTGGAGACAACAAGACTCATCTATAATTTCTTGGATGCTCAAATGAAAATATACAGGACTCAAGCATTAGCTAAAATAATCCAGGAAAGCCCTGTCAAAGGTTAGGAATGTGATATCTTTCTGTTTCCAAAAGCAGCAGCCCTTTATTCAAGACACTTTTCTGTTTAATTTAATTATCTTTGAACTTCCTGTTGAAGGTTTTGAAAAATATATGTTAGAGGGTGGGGAGAGAGTTCAGTATGTCAGGACTGCTACATTTATGAGTGTGGGTCTTTATTGAAGTCTCTCTTTGTAGCCAATCCTTTTTTTTTTTTTAATTTTTAAATTTTAAATTCTTACTTTTAGATATGGGGGTCTCACTCTGTTGCCCAGGCTAGAGTTCAGTGGCACAATCATAGCTCACTGCAACGTTGACCTCCCAGGCTGAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGGGACCACAGGCATGTGCCAAAATACTCAACTAATTGTTTATTTTTTGTAGACATGGTGTCTCCCTATGTTGCCTAAGCTGGTCTTGAACTCCTACACTCAAGCAATCCTCCCGCCTCAGCTTCCTAAAGTGCTGGGATTAGAGGCATGAGCCACCAGACATGACCTGTGTTTATATTGTTAAATCACCATTGTCAATCTTGAAAGGAGACTTTGTTTTGATGTATGTAAGATTGAGTTTTTACTCATCTCTACATAGTTTCCTCAGATTGCTTTTTTTTTTTTTTGAGACCGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTCCCATGTTTCAGTGATTCTCTTGCTTCAGATTCCCGTGTACAGGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGCATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACTCGTCTAAGACTCCCAAAGTGCTCGGATTACAGATGTGAGCCACTGCACCCAGCATTCCTTAGATTTCCAATAAAAATAAAAAGCTGTGTGGGAAGTCAGAACTTGGTTGCTTCATGTCATATTTCCTATTTTTAAGATTTACAGATATTAACGACTCCTTGGGAAAACTGGACTTCAGTCGCCTCTCTCCAACAAAAAACGACTATTGGGCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCTCTTCTCCAACGAGCTGCACCGTCGCCTCTCCCCACGCGGGGTCACGTCGAACGCAGTGCATCCTGGAAATATGATGTACTCCAACATTCATCGCAGCTGGTGGGTGTACACACTGCTGTTTACCTTGGCGAGGCCTTTCACCAAGTCCATGGTAAGAGAACAGCTTCTGGCGCCGCAAACACCTTGGGTCCTAGAGAAACCTGCACACTTGTGTCTCCACCTTTTTACCTCTTGCGGGCATGAGTCTGGTCTCAGTAATAACATTGTCCAGCCCATCATAAAGGGCTCTTGAACACATTTTCATCAACTTTAGGTTAAGTCTGTTTGGGTAAATGCGTCTTGGAGGGCTGGGTAGAAGATGTGGGTTTCAGTATCATGTTAAGTATGGCTGAAAGTCCTTATGGAAATGGTGATTTTTTTGTTTGTTTGGTTTTGTTTTTTTTGGGGTTTTTTATTCAGAAACTTTGAAAATCTATTTTGTTGAATGGAGCACTTGAAAACTGCTGTTTTGTGTCAGTAGGTAAACAACAAACATTGGTGACTACTGAATTTTCAGCAGATGTGATTCCTTTGTTTCACAGAAAAACTGTATCTTTTGTTCTAAATTTTTTTCTTCTAATGGGTATAATCCTCTGTTGGAGAGTCCTTTGATAGCTAGGAGTGTGTTTTCTTCTTTACTTTCCCAAAGACAATTTTGGATGAATCATGGTACTGTGGTTACATTTGGAAGTGTTTACAAAGGTGATAAGATGTTTTTATAGTTTGGTGTTCATTTATCGACCATATTAAGAACCTTCTTCTATGAAATGGTTTTAGTAGGAAGTATTTTGAATGAAGAAAGCGTATTTTCCACAATATATTTGGTAGATTATTTTTCAAAACCAAAGGACTTCAAAAATGTCTTCCTATTAGTGGACACCAGTATTCCAGTTACCCAAACTTAAAATCTACTTGACAGAAATCACCCTTTTCCCAAACACATTTGCCTTTTAGCGATATCACAGGCCTTCACAGTTGGACCTAGGATATTAATAAAACAAAGCAAAACAACAACAAAAGAAGAACTATTGCAGGCCTATTATCCTCCAGCTGATCTCACGACCTTGGAAACTGTCTGCTGCCTTCTCTTACACTCATTCCCACCTGCCACCCTTAACCTTCGTATTTGGGGATGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGGGATGACTTTTAAAACCACATCAAAAGTCTTTTGAAGTGCTTAGGAGGAGGTAAGTAAGTATATCTTTTATTCTAATCACCCAAGTGGTTTTTAGGCAGAGTAAACAGACATATTCCAAGAGTCGAATACTTAGGATCAGTGGCAGTGAAGTGAAAGGACCTACGGAGAATGGTGTTCCATGCCGCAGGGTGGGATTGATCTCTAGGAAGTAAATGAATGAAACTTACCTGTAGGTGGATCACAGGGTTTTGAAATCTCCCCATCACTTTGCTCCCGATGACTGCATAAGCGCAGCCTCTTCATGAAAGTTTCTTTGACCATGGTTATGCCTCATACTTTGTTGTGTCCTTCAGTTTACATGAAAAGAAGGAATATGGATCTGAACTGGGTGCCAGTGCCATTTAAATGAGGCATTTAGGAATGGGGAGAGGAGAGAGGTGGATTCTTCCTTATTTTCTGCTGGCCCAGTGCCTTCCGCTTTAACAAGCCCAGTCAACCATCATTTGTAATCTTTGGGTCTTGAGTCATCTCACTTGTATTTGATCATTGATGTGTTTTAAGGAGCTCGGTTCAGTGGCATCAGAGAGTTCGTTTTCTCCTTCTTCCATAAGGTCCCTAATCAGAGGAACGGGATGGGAAAGCTTTAGAGATGAGTCTGTGACTATGGAATTTGGTGAGGGGTGATATAACCATCCTGCCATTTGTTG
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GTTTCAAGGTCTCATTTCTGTATCCTTGATGACGTTTCTGGCCATCAGCTTTGTTGATGACTTTAGAGCAGCTATGTCATTTAACACTAGAAATTGGATGTCACCGAGTCCTGTGGAAGGGATATTTAATTTCCATTAAAACATGAATTTCATTCTGCCCTTGCCATGCTTTTCTTGGTCTTAGCCCAACCTGAGCTGCTGATATTAAGGAATAATAGGATAATTCCATAATTTTCATTTTACCTTTTGCTTTTTGTTTTCCATAGCAGTTATCTAGAGGATTCCCATTATGCTTCTTCATTACCCGGTGCCCAGAATGAACTTATAGAAGCAGAATATGAGGGGTCCTTTGACAAACATGAGACTGTTTAGAAAATTCCTTTTGTTTGCTGTGATCCATTTTGTAAGGGAAGTCACTATAATGTTGTTATTTAAGAGAAAGAGACAAACGGAAAGAAACAAACAGCTGGTGTTTAACGACTCCGTCAGACCCAATTATAAAGCATCAACTAGTTACGTTGATTTGTGTACATCCATGCCATGGGTATACTTAAAAACATTAGATTTTGCCAGAACTCATCTTGGCTTTGTTTACATTTTTCTTTTAAACGTATAAGACTATTGATGGTACCTCACCAAGGTTATAACCCCTTTATAATCATTAATTTTTAATCTAGAAAAGAGTCTTGGAGACAACAAGACTCATCTATAATTTCTTGGATGCTCAAATGAAAATATACAGGACTCAAGCATTAGCTAAAATAATCCAGGAAAGCCCTGTCAAAGGTTAGGAATGTGATATCTTTCTGTTTCCAAAAGCAGCAGCCCTTTATTCAAGACACTTTTCTGTTTAATTTAATTATCTTTGAACTTCCTGTTGAAGGTTTTGAAAAATATATGTTAGAGGGTGGGGAGAGAGTTCAGTATGTCAGGACTGCTACATTTATGAGTGTGGGTCTTTATTGAAGTCTCTCTTTGTAGCCAATCCTTTTTTTTTTTTTAATTTTTAAATTTTAAATTCTTACTTTTAGATATGGGGGTCTCACTCTGTTGCCCAGGCTAGAGTTCAGTGGCACAATCATAGCTCACTGCAACGTTGACCTCCCAGGCTGAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGGGACCACAGGCATGTGCCAAAATACTCAACTAATTGTTTATTTTTTGTAGACATGGTGTCTCCCTATGTTGCCTAAGCTGGTCTTGAACTCCTACACTCAAGCAATCCTCCCGCCTCAGCTTCCTAAAGTGCTGGGATTAGAGGCATGAGCCACCAGACATGACCTGTGTTTATATTGTTAAATCACCATTGTCAATCTTGAAAGGAGACTTTGTTTTGATGTATGTAAGATTGAGTTTTTACTCATCTCTACATAGTTTCCTCAGATTGCTTTTTTTTTTTTTTGAGACCGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTCCCATGTTTCAGTGATTCTCTTGCTTCAGATTCCCGTGTACAGGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGCATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACTCGTCTAAGACTCCCAAAGTGCTCGGATTACAGATGTGAGCCACTGCACCCAGCATTCCTTAGATTTCCAATAAAAATAAAAAGCTGTGTGGGAAGTCAGAACTTGGTTGCTTCATGTCATATTTCCTATTTTTAAGATTTACAGATATTAACGACTCCTTGGGAAAACTGGACTTCAGTCGCCTCTCTCCAACAAAAAACGACTATTGGGCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCTCTTCTCCAACGAGCTGCACCGTCGCCTCTCCCCACGCGGGGTCACGTCGAACGCAGTGCATCCTGGAAATATGATGTACTCCAACATTCATCGCAGCTGGTGGGTGTACACACTGCTGTTTACCTTGGCGAGGCCTTTCACCAAGTCCATCGTAAGAGAACAGCTTCTGGCGCCGCAAACACCTTGGGTCCTAGAGAAACCTGCACACTTGTGTCTCCACCTTTTTACCTCTTGCGGGCATGAGTCTGGTCTCAGTAATAACATTGTCCAGCCCATCATAAAGGGCTCTTGAACACATTTTCATCAACTTTAGGTTAAGTCTGTTTGGGTAAATGCGTCTTGGAGGGCTGGGTAGAAGATGTGGGTTTCAGTATCATGTTAAGTATGGCTGAAAGTCCTTATGGAAATGGTGATTTTTTTGTTTGTTTGGTTTTGTTTTTTTTGGGGTTTTTTATTCAGAAACTTTGAAAATCTATTTTGTTGAATGGAGCACTTGAAAACTGCTGTTTTGTGTCAGTAGGTAAACAACAAACATTGGTGACTACTGAATTTTCAGCAGATGTGATTCCTTTGTTTCACAGAAAAACTGTATCTTTTGTTCTAAATTTTTTTCTTCTAATGGGTATAATCCTCTGTTGGAGAGTCCTTTGATAGCTAGGAGTGTGTTTTCTTCTTTACTTTCCCAAAGACAATTTTGGATGAATCATGGTACTGTGGTTACATTTGGAAGTGTTTACAAAGGTGATAAGATGTTTTTATAGTTTGGTGTTCATTTATCGACCATATTAAGAACCTTCTTCTATGAAATGGTTTTAGTAGGAAGTATTTTGAATGAAGAAAGCGTATTTTCCACAATATATTTGGTAGATTATTTTTCAAAACCAAAGGACTTCAAAAATGTCTTCCTATTAGTGGACACCAGTATTCCAGTTACCCAAACTTAAAATCTACTTGACAGAAATCACCCTTTTCCCAAACACATTTGCCTTTTAGCGATATCACAGGCCTTCACAGTTGGACCTAGGATATTAATAAAACAAAGCAAAACAACAACAAAAGAAGAACTATTGCAGGCCTATTATCCTCCAGCTGATCTCACGACCTTGGAAACTGTCTGCTGCCTTCTCTTACACTCATTCCCACCTGCCACCCTTAACCTTCGTATTTGGGGATGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGGGATGACTTTTAAAACCACATCAAAAGTCTTTTGAAGTGCTTAGGAGGAGGTAAGTAAGTATATCTTTTATTCTAATCACCCAAGTGGTTTTTAGGCAGAGTAAACAGACATATTCCAAGAGTCGAATACTTAGGATCAGTGGCAGTGAAGTGAAAGGACCTACGGAGAATGGTGTTCCATGCCGCAGGGTGGGATTGATCTCTAGGAAGTAAATGAATGAAACTTACCTGTAGGTGGATCACAGGGTTTTGAAATCTCCCCATCACTTTGCTCCCGATGACTGCATAAGCGCAGCCTCTTCATGAAAGTTTCTTTGACCATGGTTATGCCTCATACTTTGTTGTGTCCTTCAGTTTACATGAAAAGAAGGAATATGGATCTGAACTGGGTGCCAGTGCCATTTAAATGAGGCATTTAGGAATGGGGAGAGGAGAGAGGTGGATTCTTCCTTATTTTCTGCTGGCCCAGTGCCTTCCGCTTTAACAAGCCCAGTCAACCATCATTTGTAATCTTTGGGTCTTGAGTCATCTCACTTGTATTTGATCATTGATGTGTTTTAAGGAGCTCGGTTCAGTGGCATCAGAGAGTTCGTTTTCTCCTTCTTCCATAAGGTCCCTAATCAGAGGAACGGGATGGGAAAGCTTTAGAGATGAGTCTGTGACTATGGAATTTGGTGAGGGGTGATATAACCATCCTGCCATTTGTTG
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Task1_train_22937
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This mutation is located in gene MAF, WWOX (MAF bZIP transcription factor| WW domain containing oxidoreductase) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Developmental and epileptic encephalopathy, 28
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AAAATGAAAATATATGACAGATATCTGGAAGTTGATACAAAACACCATCTCCACCAGAACTCTAAGATTCCAGGCCAAAATAATACTTGGCTTGAGTTAGCTGGATGAGCATCTCAATTCTCCAATTTGTCTTTAGAGGCACTTCTGCTTCCCTTTTCCCCACATGGGATGCAGAAGAGCCAGATAAACCCCTTGAAGTTGTTTAGATAAATGTGCCAGGTGCTAAGCTCAGGGTTATTAGGAATAATAATTCAGTGAAAGGAAATTTGGATGACATGAACTCATTTCCATTAGACTTGAGCCACACAAATCAATGGGAAAAGAAACAGCTGAATCCAGGATAATATCTGGCTATTTGGAGTGGGCATGATAATGGAGGGAGATTGGGGAGGTAACAAACCAGCTACTATTAAGTTCAAGTCATGTCAGTTATTCAAATTCAGGACCAGTGGAACTTGTCCAGTATCATCAAGCAGCCAGTTATTATCAAAACCCAAGTCTTTGTCTCACTCACGGTCCACACCCCGCCCAGAGTCGTATCACTTGACTGCATTTGACCATTCAGTTTTCAGACCAACTCCATTGTTACTAGATATCCTGACACTGAAGAAGCTAAAACCAAACAACAATGACAACAACAAACCCAAGTCTGCCTTATGGCAGATTCTTCACGTCGTAACACCTTCCTTGGGACCCTATTTCTCAGTATGGACCTGACTCTCCCAGGGATCCTAGAATGCAAGCATAGTGATTGCAAACCAGACCATTTGAGGGAAACTCCTCCAGTAAGCACCCTGCATGGTCACAATGTAAACCCTGCAGGGGCAGAAAAATGATAAGCTTTGGGTCGGGTCGGAAAGCCATTTCCCCCACAATCAAAGTTCCTTAGTGTTTTCCTTGTGGGGGCGAGCTTATCTTCAGTTACCTTTTCCGGTCCTCTCTTGCAACCCCTCTCCCTCTCATCAGCTGAAAATTAGTGGATGCAGCTAGGGCTCTGAAACACATAAATAATCATAAGATGCCAGATAAACTGTATTGGTTTTAAATTAGAGACGTGCCGACCATGTCTCCCTCTGAACAGCAGCCTATTATTTTTAATTATGGCTTGCAAAGCAAAGTGATTTCTTGCCCTCTTTATAGCATCCCTGACAGTATTCTGTCAGTTTGGATGATATGATGCCTCATCACTGCACACGTCCCTAGCCACAGCCGCAACTGTTACTCAAAAGGTGAATGAAAGTGATCAGCTGCACTCTTTGCAACTTACATTTTGAAGTGGGCTGGGAGGAAATGTACCCCCTTACCTGTGGTCCCATTGTAAATCTGGGTCAAATATGACATTTAGAAAAAGGTTTTCATGGGATCTGGATGAATTAATGTGTTATGTGTTTGTGCTAAGTATGAATGTATGGTGAGGAGTGTGTGTGTGTGTGTGTGTGTGCATTAAATGTTTTAACACAACATTGCCAACCCTTCCCCTAGCAGCACCGTGGGCAAAGCATAAAGGGATGATCTGGCAGCAGCCCCACTTGGGTTTTCTACCTGATGGACCACAATTAAGAGTGGTTGGTTTGTCAGACAGAAGGTTCTACAAACGATTTGGTATCGAATTACATTATACATGGAGAAGTTGAGGGGTTGGATGAATTTGTTCTTGCACGTTCAGAAGGATACCATCTTTTTCTCTGTGTGGAAGAGGCGCCTGCCACGACGTATTGATATGTGTATTTATTTTCCAAGCCTGTCCCTGTATGAGGTGTCAAAAGTTACACCAGCTTTACAAGCGGAGTTTATGAACTCGTTTTTCCAGGATAGTCACATTATACTTTTTACAGTCATGTGCTTTCAGCCCAGTACCCTTTGCTATGCCAAGATCCAGCTGAAACTGAACCAGGTGGGGGAGGCCTGCTAATGCCCAGGCAGTCGAAATGACGCCATCTCATCACTCCTTTTCTTAAAATTTTTTTTTGTCTTTCTTCTTGGATTTCCAGCAACAGGGAGCTGCCACCACCGTGTACTGTGCTGCTGTCCCAGAACTGGAGGGTCTGGGAGGGATGTACTTCAACAACTGCTGCCGCTGCATGCCCTCACCAGAAGCTCAGAGCGAAGAGACGGCCCGGACCCTGTGGGCGCTCAGCGAGAGGCTGATCCAAGAACGGCTTGGCAGCCAGTCCGGCTAAGTGGAGCTCAGAGCGGATGGGCACACACACCCGCCCTGTGTGTGTCCCCTCACGCAAGTGCCAGGGCTGGGCCCCTTCCAAATGTCCCTCCAACACAGATCCGCAAGAGTAAAGGAAATAAGAGCAGTCACAACAGAGTGAAAAATCTTAAGTACCAATGGGAAGCAGGGAATTCCTGGGGTAAAGTATCACTTTTCTGGGGCTGGGCTAGGCATAGGTCTCTTTGCTTTCTGGTGGTGGCCTGTTTGAAAGTAAAAACCTGCTTGGTGTGTAGGTTCCGTATCTCCCTGGAGAAGCACCAGCAATTCTCTTTCTTTTACTGTTATAGAATAGCCTGAGGTCCCCTCGTCCCATCCAGCTACCACCACGGCCACCACTGCAGCCGGGGGCTGGCCTTCTCCTACTTAGGGAAGAAAAAGCAAGTGTTCACTGCTCCTTGCTGCATTGATCCAGGAGATAATTGTTTCATTCATCCTGACCAAGACTGAGCCAGCTTAGCAACTGCTGGGGAGACAAATCTCAGAACCTTGTCCCAGCCAGTGAGGATGACAGTGACACCCAGAGGGAGTAGAATACGCAGAACTACCAGGTGGCAAAGTACTTGTCATAGACTCCTTTGCTAATGCTATGCAAAAAATTCTTTAGAGATTATAACAAATTTTTCAAATCATTCCTTAGATACCTTGAAAGGCAGGAAGGGAAGCGTATATACTTAAGAATACACAGGATATTTTGGGGGGCAGAGAATAAAACGTTAGTTAATCCCTTTGTCTGTCAATCACAGTCTCAGTTCTCTTGCTTTCACATTGTACTTAAACCTCCTGCTGTGCCTCGCATCCTATGCTTAATAAAAGAACATGCTTGAATATCATCACCTGAAGTTTGTATTGTTTCTTTAAATGTTTGTTTCAGTTTGTTTTTGTTTTTCATTTTTTAGAAAAGAAATCTAGAGGAAAAATAAAGCGCTTCTAATAAAGCGCTTCTCGTAGATGCCAGGAAAACACGATTCTTGTTTCTTCTCTGAGTGAGTTTGTGTTTTGTTTTTGTGCTTTGTGGCTGTCCGTGGGCCAAGTTGTCTCACGCGATTAGCATGCCAGCATATTTTCTGTTAAAGAAAGAAAAAAGAAAAATGACTATTGTTTCATTTCACCTTAAGATGTTTTGTTATTACTTACTTACAGTGAGTTATTTTAGTCCTCAATGGTCTGCTCCCCTGCAATTAGCAAGTACTTAGTGATTAGCGGGTATCTCTATGTTTGAGAATGGGAGCTGTGCAGAAGCTCTTATCTGCGCATCCCATCTCATGGACACCATGATTTCCAGCCCGTTCCAGCAAGCACATGAGAAAGTCCACTCTGGCAAGACGGAGAAAATGCTTCTGCTGAAATACCAGGAAGGTGTGGAGGCTGGGTGTCATTGTTCCCCCTCCTGATCATGGCAGCTTCAGGCCAGACAATGTCTTGAACTTCTGTGCCTCTGCATCTGTGGTGCAGAGCAGTCGAACAAACAAACACCATTGCCCTCCAGTGGCCCATAGCCTTGCCACATCCTCCCATCTGGCTATAGTCTTCCTTACGTAATCCTTATTATCACAGGACCTTTGAAACTATGAATCAGATAATGTCACTTTTCAGACATTATTGTCATTTGCAAAAGCAGCCGTCAGAACTCCACTCTCAGAATCTACACCTGGAGGGGATCACCCCTCCCATATGACCTCTGACTTTGGCCATGTGACTGGCCTTGGCCAATTTGGAAAGTGCTTTGCACTGGGGCTTGCCTTTCCTTGTTGATCTTTGGAACCCTGCAACTTCCATCATAGGGAACGGCTCCTGGGCTAGCCTGCTGGATGATGAGAGACACGTAGTCACTCCCAGAACCGGCATCCAGCAGTTAGTTAGTTAGACATGTAAGTG
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AAAATGAAAATATATGACAGATATCTGGAAGTTGATACAAAACACCATCTCCACCAGAACTCTAAGATTCCAGGCCAAAATAATACTTGGCTTGAGTTAGCTGGATGAGCATCTCAATTCTCCAATTTGTCTTTAGAGGCACTTCTGCTTCCCTTTTCCCCACATGGGATGCAGAAGAGCCAGATAAACCCCTTGAAGTTGTTTAGATAAATGTGCCAGGTGCTAAGCTCAGGGTTATTAGGAATAATAATTCAGTGAAAGGAAATTTGGATGACATGAACTCATTTCCATTAGACTTGAGCCACACAAATCAATGGGAAAAGAAACAGCTGAATCCAGGATAATATCTGGCTATTTGGAGTGGGCATGATAATGGAGGGAGATTGGGGAGGTAACAAACCAGCTACTATTAAGTTCAAGTCATGTCAGTTATTCAAATTCAGGACCAGTGGAACTTGTCCAGTATCATCAAGCAGCCAGTTATTATCAAAACCCAAGTCTTTGTCTCACTCACGGTCCACACCCCGCCCAGAGTCGTATCACTTGACTGCATTTGACCATTCAGTTTTCAGACCAACTCCATTGTTACTAGATATCCTGACACTGAAGAAGCTAAAACCAAACAACAATGACAACAACAAACCCAAGTCTGCCTTATGGCAGATTCTTCACGTCGTAACACCTTCCTTGGGACCCTATTTCTCAGTATGGACCTGACTCTCCCAGGGATCCTAGAATGCAAGCATAGTGATTGCAAACCAGACCATTTGAGGGAAACTCCTCCAGTAAGCACCCTGCATGGTCACAATGTAAACCCTGCAGGGGCAGAAAAATGATAAGCTTTGGGTCGGGTCGGAAAGCCATTTCCCCCACAATCAAAGTTCCTTAGTGTTTTCCTTGTGGGGGCGAGCTTATCTTCAGTTACCTTTTCCGGTCCTCTCTTGCAACCCCTCTCCCTCTCATCAGCTGAAAATTAGTGGATGCAGCTAGGGCTCTGAAACACATAAATAATCATAAGATGCCAGATAAACTGTATTGGTTTTAAATTAGAGACGTGCCGACCATGTCTCCCTCTGAACAGCAGCCTATTATTTTTAATTATGGCTTGCAAAGCAAAGTGATTTCTTGCCCTCTTTATAGCATCCCTGACAGTATTCTGTCAGTTTGGATGATATGATGCCTCATCACTGCACACGTCCCTAGCCACAGCCGCAACTGTTACTCAAAAGGTGAATGAAAGTGATCAGCTGCACTCTTTGCAACTTACATTTTGAAGTGGGCTGGGAGGAAATGTACCCCCTTACCTGTGGTCCCATTGTAAATCTGGGTCAAATATGACATTTAGAAAAAGGTTTTCATGGGATCTGGATGAATTAATGTGTTATGTGTTTGTGCTAAGTATGAATGTATGGTGAGGAGTGTGTGTGTGTGTGTGTGTGTGCATTAAATGTTTTAACACAACATTGCCAACCCTTCCCCTAGCAGCACCGTGGGCAAAGCATAAAGGGATGATCTGGCAGCAGCCCCACTTGGGTTTTCTACCTGATGGACCACAATTAAGAGTGGTTGGTTTGTCAGACAGAAGGTTCTACAAACGATTTGGTATCGAATTACATTATACATGGAGAAGTTGAGGGGTTGGATGAATTTGTTCTTGCACGTTCAGAAGGATACCATCTTTTTCTCTGTGTGGAAGAGGCGCCTGCCACGACGTATTGATATGTGTATTTATTTTCCAAGCCTGTCCCTGTATGAGGTGTCAAAAGTTACACCAGCTTTACAAGCGGAGTTTATGAACTCGTTTTTCCAGGATAGTCACATTATACTTTTTACAGTCATGTGCTTTCAGCCCAGTACCCTTTGCTATGCCAAGATCCAGCTGAAACTGAACCAGGTGGGGGAGGCCTGCTAATGCCCAGGCAGTCGAAATGACGCCATCTCATCACTCCTTTTCTTAAAATTTTTTTTTGTCTTTCTTCTTGGATTTCCAGCAACAGGGAGCTGCCACCACCGTGTACTGTGCTGCTGTCCCAGAACTGGAGGGTCTGCGAGGGATGTACTTCAACAACTGCTGCCGCTGCATGCCCTCACCAGAAGCTCAGAGCGAAGAGACGGCCCGGACCCTGTGGGCGCTCAGCGAGAGGCTGATCCAAGAACGGCTTGGCAGCCAGTCCGGCTAAGTGGAGCTCAGAGCGGATGGGCACACACACCCGCCCTGTGTGTGTCCCCTCACGCAAGTGCCAGGGCTGGGCCCCTTCCAAATGTCCCTCCAACACAGATCCGCAAGAGTAAAGGAAATAAGAGCAGTCACAACAGAGTGAAAAATCTTAAGTACCAATGGGAAGCAGGGAATTCCTGGGGTAAAGTATCACTTTTCTGGGGCTGGGCTAGGCATAGGTCTCTTTGCTTTCTGGTGGTGGCCTGTTTGAAAGTAAAAACCTGCTTGGTGTGTAGGTTCCGTATCTCCCTGGAGAAGCACCAGCAATTCTCTTTCTTTTACTGTTATAGAATAGCCTGAGGTCCCCTCGTCCCATCCAGCTACCACCACGGCCACCACTGCAGCCGGGGGCTGGCCTTCTCCTACTTAGGGAAGAAAAAGCAAGTGTTCACTGCTCCTTGCTGCATTGATCCAGGAGATAATTGTTTCATTCATCCTGACCAAGACTGAGCCAGCTTAGCAACTGCTGGGGAGACAAATCTCAGAACCTTGTCCCAGCCAGTGAGGATGACAGTGACACCCAGAGGGAGTAGAATACGCAGAACTACCAGGTGGCAAAGTACTTGTCATAGACTCCTTTGCTAATGCTATGCAAAAAATTCTTTAGAGATTATAACAAATTTTTCAAATCATTCCTTAGATACCTTGAAAGGCAGGAAGGGAAGCGTATATACTTAAGAATACACAGGATATTTTGGGGGGCAGAGAATAAAACGTTAGTTAATCCCTTTGTCTGTCAATCACAGTCTCAGTTCTCTTGCTTTCACATTGTACTTAAACCTCCTGCTGTGCCTCGCATCCTATGCTTAATAAAAGAACATGCTTGAATATCATCACCTGAAGTTTGTATTGTTTCTTTAAATGTTTGTTTCAGTTTGTTTTTGTTTTTCATTTTTTAGAAAAGAAATCTAGAGGAAAAATAAAGCGCTTCTAATAAAGCGCTTCTCGTAGATGCCAGGAAAACACGATTCTTGTTTCTTCTCTGAGTGAGTTTGTGTTTTGTTTTTGTGCTTTGTGGCTGTCCGTGGGCCAAGTTGTCTCACGCGATTAGCATGCCAGCATATTTTCTGTTAAAGAAAGAAAAAAGAAAAATGACTATTGTTTCATTTCACCTTAAGATGTTTTGTTATTACTTACTTACAGTGAGTTATTTTAGTCCTCAATGGTCTGCTCCCCTGCAATTAGCAAGTACTTAGTGATTAGCGGGTATCTCTATGTTTGAGAATGGGAGCTGTGCAGAAGCTCTTATCTGCGCATCCCATCTCATGGACACCATGATTTCCAGCCCGTTCCAGCAAGCACATGAGAAAGTCCACTCTGGCAAGACGGAGAAAATGCTTCTGCTGAAATACCAGGAAGGTGTGGAGGCTGGGTGTCATTGTTCCCCCTCCTGATCATGGCAGCTTCAGGCCAGACAATGTCTTGAACTTCTGTGCCTCTGCATCTGTGGTGCAGAGCAGTCGAACAAACAAACACCATTGCCCTCCAGTGGCCCATAGCCTTGCCACATCCTCCCATCTGGCTATAGTCTTCCTTACGTAATCCTTATTATCACAGGACCTTTGAAACTATGAATCAGATAATGTCACTTTTCAGACATTATTGTCATTTGCAAAAGCAGCCGTCAGAACTCCACTCTCAGAATCTACACCTGGAGGGGATCACCCCTCCCATATGACCTCTGACTTTGGCCATGTGACTGGCCTTGGCCAATTTGGAAAGTGCTTTGCACTGGGGCTTGCCTTTCCTTGTTGATCTTTGGAACCCTGCAACTTCCATCATAGGGAACGGCTCCTGGGCTAGCCTGCTGGATGATGAGAGACACGTAGTCACTCCCAGAACCGGCATCCAGCAGTTAGTTAGTTAGACATGTAAGTG
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Task1_train_22938
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A variant was discovered on Chromosome 16, affecting MAF (MAF bZIP transcription factor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Cataract 21 multiple types
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TAATTTTGAAAAGAAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTG
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TAATTTTGAAAAGAAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACGGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTG
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Task1_train_22939
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This sequence variant lies in MAF (MAF bZIP transcription factor) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Cataract 21 multiple types
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AAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTG
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AAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCAGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTG
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Task1_train_22940
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Given this variant in gene MAF (MAF bZIP transcription factor) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Ayme-Gripp syndrome
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AAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTG
|
AAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCAGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTG
|
Task1_train_22941
|
A mutation found in MAF (MAF bZIP transcription factor) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Cataract 21 multiple types
|
AAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTG
|
AAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCAGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTG
|
Task1_train_22942
|
An alteration has been detected in MAF (MAF bZIP transcription factor) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Cataract 21 multiple types
|
AAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTT
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AAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTCTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTT
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Task1_train_22943
|
Gene MAF (MAF bZIP transcription factor) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Cataract 21 multiple types
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ATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGC
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ATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCTGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGC
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Task1_train_22944
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This is a variant in MAF (MAF bZIP transcription factor), located on Chromosome 16. Is this mutation a likely cause of disease or not?
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Pathogenic; Ayme-Gripp syndrome
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ATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGC
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ATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCTGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGC
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Task1_train_22945
|
Given a variant located on Chromosome 16 and affecting MAF (MAF bZIP transcription factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Cataract 21 multiple types
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CCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCAT
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CCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCGGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCAT
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Task1_train_22946
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Given this context: Chromosome 16, gene MAF (MAF bZIP transcription factor) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; not provided
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ACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTA
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ACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCCTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTA
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Task1_train_22947
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Here is a genetic alteration in MAF (MAF bZIP transcription factor) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Ayme-Gripp syndrome
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AGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCG
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AGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGAGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCG
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Task1_train_22948
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Chromosome 16 houses a mutation in gene MAF (MAF bZIP transcription factor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Ayme-Gripp syndrome
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AGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCG
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AGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGTGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCG
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Task1_train_22949
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This gene mutation involves MAF (MAF bZIP transcription factor) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
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Pathogenic; not provided
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CATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCGGAC
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CATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGATGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCGGAC
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Task1_train_22950
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This variant lies on Chromosome 16 and affects the gene MAF (MAF bZIP transcription factor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Ayme-Gripp syndrome
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ATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCGGACT
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ATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGCGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCGGACT
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Task1_train_22951
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Given a variant located on Chromosome 16 and affecting MAF (MAF bZIP transcription factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Ayme-Gripp syndrome
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AAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCGGACTTGATCGTGGCA
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AAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCAAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCGGACTTGATCGTGGCA
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Task1_train_22952
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A variant was discovered on Chromosome 16, affecting GCSH (glycine cleavage system protein H). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Multiple mitochondrial dysfunctions syndrome 7
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AGTATTTCATCCCAAATCCAGGTATGGATACATGCAAGTTACAATATTATATAAGGCTTAAGAATAACAATGTTATCTTTGAATTATGTAATTTTTATAACTAGTTTTTACCATGGATAATTTCATGAATTCTGAACACTAGAGCCTAGTCTAAAAATCATAGGATATTGTGAAAAAGACGCATATTATATTTATCTATAATCATTAGAAAGTTAAAGGGCATTTTCTTTCATTAGCAGTGTTAACAGTAGTTTTTTTTTCCCCATCGGTAATACTAAAAGTTTCTATTCTAAGTCTTCTATCCACCACTAATTTAAGACAACTCTGCTGGCTTGCGTTATTTCATACTAGTTTATTTAGGAGTTCCATTTTCACTCCTCAATAGATTTTATGTATTTCTCATATGCTTCTTCACTCATAAGTTCATCTAGTTCTGAAGGGTTACTCAGTGTCATCTTGATCAGCCAACCTGCAACCAAAAGACAACCTTATATTCCACATTAACTTTTTAAAAAGTCAAATTCATCCAAAACGTAAAATAAATTTCTGAGCGCCTCAATCTTGTATTCTTTACAAAAACCATACATTATTTGTTCATAGAACTTTAAATTTTAGCCTTAAGAATTAAAATACTTGTATATAACAAATGAAAATAATTATGGCTAGAATAGATTCCACCATAATAAATTAAGAACTCTTAGGTTGTAATAAGCATCAGAAAATGACATTTAAATCTTTAAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCGAAGGCAAGCAAATCACTTGAGGCTAGGAGCTCTAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGCAGTTGCCCTTGATCCCAGCTACTGGGAAGCTGAGGCAGAAGAAGTGCTTGAACCCGAGAAGGGGAGGTTGCAGTGCACCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAATAATAAAAATAAGTCCTTAAATATATGATCCAAATACACAAGACCAGGTATGTCTTTAACAAATGGAACACTAACTACTGAGGTTAACGGGATTAGAAAGCAGTAGTAATTAGAAGGGCTAGGTGACAGACAAAAGAGAACTACAACCTAATCCTAGCTTTGCCATTTATCAGCCATGAGACCCTGACAGATAAATCCTTTGGAGCCTCTATTCATCTACAAAATAGAGAAAATTGCTGTTAGCTTACCTGATTAGATTATAAGGGTGAAAATGTGAGAAAACCAAAAATTAATGCAAAATATATATTTTTTTACCTCCCATGTCACACAATATGAGTGGCTGCTTTATGTCTGAAAAAGTAAATACTTTGCAGATGTTTACACCAAAACCAAAGAATCTACAACTGATATCAAGAAACTGCAAAATAAGGTAATGCTTTTATCATCAGAGATTTTTTTTTCTTTTTTTGAGAAGGTCTCGCTCTGTCACTCAGGCTGGAGTGGAGTGGTGCGATCTTGGCTCACTATAGACTGCAGCCTTGACCTCCCAGGTTCAAGCAATTCTCCCACCTCAGCCTCCCTAGTAACTGAGACTACAGGCACATTCCACCACAGCCAGCTAATTTTTGTATTTCTATAGAGACAGAGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCCTGGACTAAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATCACAGGCGCGAGCCACTGCGCCTAGCCAGAAATCTTAAACATAACTTTAAGTATTCAACTAACCTCTGTTTTTCTTTTAAAGCAGAACATCTCTATTTAGTACCAAGAAGTAGAAAAAGATGAAGTCACAATCAGCTAAACTTGCTTTAAATTCTAGATAAAATATTTACTGTAGTAGTAATTCCTTGAGAAATTTCTAGCAACAGCTTACCATCTTCATAACAAGATTTGTTTACAAGTCCTGGATTTTCTGCAAGAGCTTCATTAATTTCAGTTACTTCTCCTGATAAAGGAGAATAGAGTTCACTAGCAGCTTTCACACTTTCCAAAGCACCAAACTCATCTAAGTGGAAAAAAAATTAAAGAAAACATGAAATGTTAAAAGTCAGTTACTTGAAAACATAAAATACGAAAAAGTAGATTCCTGTCATACAGCTATGATTTTAAAATTCCAAATTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCACGTCACTGCAAGCTCCACCTCCCAAGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCTGCCACCACGCCCGTCTAATTTTTTGTATTTGTAGTAGAGACGGGGTTTCACTGTGTTAGCTAGGATGGTCTCAATCTCCTGATGCCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATAAGCCACTGCACCTGGCTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCAGGCTACAGTACAATGGTGTGTTCTAGGCTCACTGCCACCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCGCGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCACTGTGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCGTGATCAACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAACCGTGAGCCACCGTGCCTGGCCTACATTTCTTTAATTAAAAATAAAACCATAAGTTTTGTCAGGCTATAATAACCACGAGAAGGGTATATATTGTCTCAATAAAGTGGACCTATCTGTGTGTCCTGGACACAGTAAATAACAAATGGTGATGTGCCTGAATGCCAGATGTGTGTAGGTTCAGTAAAACTCCATGTTCTTGCAACTTAGCTGTGGCTCAGAAAAAAACAAAATGAAAACTTTAGAATGTTCCAGTGACAGTGAAGTACCCTGTATCAGATAACAATTATAAGCTCTGGGCCAGGCGTGGTGGCTCATGCCTGTAATTCCAGCACTTTGGAAGACCAAGGCAGGAAGATCACCTGAGGTCAGTAGTTTGAAACCAGCCTAGCCAACATGGTCTCTACTAAAATACAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGACCATGCCATTGCAGTCCAGCCTTGGTGACAGTGTGAGACTCCGTCTCAAAAACAAAAAAAACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAACACAATTATGAACTCTGAACTACTGGCCAGGAACGGCGGCTCATGCTTGTAATCCCAACACTTTGGGAAGCCAAGGCGGGTAGATCACTTGAGGTCACGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACCAAAACCTCGAAATAAATAAATTAATTAATTTAAAAAATTAGCCTGGTGTGGTTGTGCATGCCTGTACTCCCAGCTACTTGGGTGGCTGAAAAAGGAGAATTGCTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCCAATGTCGCACCATCGCATTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAATAAGAAGAAAAAAAAAAGAACAGTTTA
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AGTATTTCATCCCAAATCCAGGTATGGATACATGCAAGTTACAATATTATATAAGGCTTAAGAATAACAATGTTATCTTTGAATTATGTAATTTTTATAACTAGTTTTTACCATGGATAATTTCATGAATTCTGAACACTAGAGCCTAGTCTAAAAATCATAGGATATTGTGAAAAAGACGCATATTATATTTATCTATAATCATTAGAAAGTTAAAGGGCATTTTCTTTCATTAGCAGTGTTAACAGTAGTTTTTTTTTCCCCATCGGTAATACTAAAAGTTTCTATTCTAAGTCTTCTATCCACCACTAATTTAAGACAACTCTGCTGGCTTGCGTTATTTCATACTAGTTTATTTAGGAGTTCCATTTTCACTCCTCAATAGATTTTATGTATTTCTCATATGCTTCTTCACTCATAAGTTCATCTAGTTCTGAAGGGTTACTCAGTGTCATCTTGATCAGCCAACCTGCAACCAAAAGACAACCTTATATTCCACATTAACTTTTTAAAAAGTCAAATTCATCCAAAACGTAAAATAAATTTCTGAGCGCCTCAATCTTGTATTCTTTACAAAAACCATACATTATTTGTTCATAGAACTTTAAATTTTAGCCTTAAGAATTAAAATACTTGTATATAACAAATGAAAATAATTATGGCTAGAATAGATTCCACCATAATAAATTAAGAACTCTTAGGTTGTAATAAGCATCAGAAAATGACATTTAAATCTTTAAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCGAAGGCAAGCAAATCACTTGAGGCTAGGAGCTCTAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGCAGTTGCCCTTGATCCCAGCTACTGGGAAGCTGAGGCAGAAGAAGTGCTTGAACCCGAGAAGGGGAGGTTGCAGTGCACCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAATAATAAAAATAAGTCCTTAAATATATGATCCAAATACACAAGACCAGGTATGTCTTTAACAAATGGAACACTAACTACTGAGGTTAACGGGATTAGAAAGCAGTAGTAATTAGAAGGGCTAGGTGACAGACAAAAGAGAACTACAACCTAATCCTAGCTTTGCCATTTATCAGCCATGAGACCCTGACAGATAAATCCTTTGGAGCCTCTATTCATCTACAAAATAGAGAAAATTGCTGTTAGCTTACCTGATTAGATTATAAGGGTGAAAATGTGAGAAAACCAAAAATTAATGCAAAATATATATTTTTTTACCTCCCATGTCACACAATATGAGTGGCTGCTTTATGTCTGAAAAAGTAAATACTTTGCAGATGTTTACACCAAAACCAAAGAATCTACAACTGATATCAAGAAACTGCAAAATAAGGTAATGCTTTTATCATCAGAGATTTTTTTTTCTTTTTTTGAGAAGGTCTCGCTCTGTCACTCAGGCTGGAGTGGAGTGGTGCGATCTTGGCTCACTATAGACTGCAGCCTTGACCTCCCAGGTTCAAGCAATTCTCCCACCTCAGCCTCCCTAGTAACTGAGACTACAGGCACATTCCACCACAGCCAGCTAATTTTTGTATTTCTATAGAGACAGAGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCCTGGACTAAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATCACAGGCGCGAGCCACTGCGCCTAGCCAGAAATCTTAAACATAACTTTAAGTATTCAACTAACCTCTGTTTTTCTTTTAAAGCAGAACATCTCTATTTAGTACCAAGAAGTAGAAAAAGATGAAGTCACAATCAGCTAAACTTGCTTTAAATTCTAGATAAAATATTTACTGTAGTAGTAATTCCTTGAGAAATTTCTAGCAACAGCTTACCATCTTCATAACAAGATTTGTTTACAAGTCCTGGATTTTCTGCAAGAGCTTCATTAATTTCAGTTACTTCTCCTGATAAAAGAGAATAGAGTTCACTAGCAGCTTTCACACTTTCCAAAGCACCAAACTCATCTAAGTGGAAAAAAAATTAAAGAAAACATGAAATGTTAAAAGTCAGTTACTTGAAAACATAAAATACGAAAAAGTAGATTCCTGTCATACAGCTATGATTTTAAAATTCCAAATTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCACGTCACTGCAAGCTCCACCTCCCAAGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCTGCCACCACGCCCGTCTAATTTTTTGTATTTGTAGTAGAGACGGGGTTTCACTGTGTTAGCTAGGATGGTCTCAATCTCCTGATGCCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATAAGCCACTGCACCTGGCTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCAGGCTACAGTACAATGGTGTGTTCTAGGCTCACTGCCACCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCGCGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCACTGTGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCGTGATCAACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAACCGTGAGCCACCGTGCCTGGCCTACATTTCTTTAATTAAAAATAAAACCATAAGTTTTGTCAGGCTATAATAACCACGAGAAGGGTATATATTGTCTCAATAAAGTGGACCTATCTGTGTGTCCTGGACACAGTAAATAACAAATGGTGATGTGCCTGAATGCCAGATGTGTGTAGGTTCAGTAAAACTCCATGTTCTTGCAACTTAGCTGTGGCTCAGAAAAAAACAAAATGAAAACTTTAGAATGTTCCAGTGACAGTGAAGTACCCTGTATCAGATAACAATTATAAGCTCTGGGCCAGGCGTGGTGGCTCATGCCTGTAATTCCAGCACTTTGGAAGACCAAGGCAGGAAGATCACCTGAGGTCAGTAGTTTGAAACCAGCCTAGCCAACATGGTCTCTACTAAAATACAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGACCATGCCATTGCAGTCCAGCCTTGGTGACAGTGTGAGACTCCGTCTCAAAAACAAAAAAAACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAACACAATTATGAACTCTGAACTACTGGCCAGGAACGGCGGCTCATGCTTGTAATCCCAACACTTTGGGAAGCCAAGGCGGGTAGATCACTTGAGGTCACGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACCAAAACCTCGAAATAAATAAATTAATTAATTTAAAAAATTAGCCTGGTGTGGTTGTGCATGCCTGTACTCCCAGCTACTTGGGTGGCTGAAAAAGGAGAATTGCTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCCAATGTCGCACCATCGCATTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAATAAGAAGAAAAAAAAAAGAACAGTTTA
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Task1_train_22953
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This variant lies on Chromosome 16 and affects the gene GCSH (glycine cleavage system protein H). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Multiple mitochondrial dysfunctions syndrome 7
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AGCTGGTCTTGAACTTTTGACCTCAGATAATCAACTTGCCTCGGCCTTCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCCGGCAAACACTGCTAGCTCTTCTGGGCATGAACATATTTGGTGTTCTTCCACCTCTGTAGTTTTATGTACACCATTGCCCCCAAAGCATTTGCTGAAATCCTGCTCACTGATTCTACAAATCATAGTCCTCACACCTTGTACTCCCTGAAGTCCCTGACTCCAGAAAGAAGTGGTCTCTCCATCAGGTAAGTGAATTACAACCCCACCGTTCCGATGCCATCATGTAATGTTTGCAAGTCATTCTCATGTAGGTAATTCCCCTCACAAATAAACTCTAGGAGGTAAGGACGACATCTTACACAACATCTCAAAAACTATCCAACACTGGGCCTCATAGTAGGTATACAGAGATGCCAAGGAAGATATAATTGTGATTATCAACACACAAGCATCTTACATGTCTGAGGAATTTTGTACAGTCACGTGCCGCCTAATGGCATTTTGGTCAACAACAGACCACATATATGACAGTGGTCCCATGAAATTATAATATAGTTAGTATCACTTGTCCAAAATGCTTGGGAGCAGAAGTGTTTTGGATTTCAGATTTTGGAATACTCGCATTATACTTAATACATGAGCACTCCTCATCCAAGATTCTGGAATCCAAAACGCTCCAATGAGCATTTTCTTTAAGAGTCACGTTGGTGCTCAAAAAGTTTCAGATTTTTGGAGTATTTCAGGGATTAGAGATGCTCAACCTATGCCATATTTTTACTGTACCTTTTCTGTGTTTTGATAGGCCAAGTGTGTTACGATTGCCTACAGTATTCAGTACAGTAACATGCTGTACAGGTTTGTAGCCCAGGAGCAAAGGCTGTACCATACAGCCAAGGTGTGTAATAGGCTGTACCATCTAGGTGTGTGTAAGGGCACCCTAGGAGGCTCACAGAAGGACGCAATCCCCGAGGAGGCAGTTATCAGAACATAGCTCCATCATTAAGTGACACGAGTGCATTCCCATCAGTTAACATCCCCCCTTCCCCGCCTCACCCAATACATACATCCAGTTGAAAATCACTGAACACGCTAGGATTTGGCTTCTCATTTTCTCTTAAACAGTATCGCCATATGGAATTGAGGGGAATTTACAGAGAAAAGATGGGCTGAATAAAAGCCTTCCCTTTGTGTCATCTGTGCCTATTGAGGTTTTCTTTCTTCCCGTCCTCCTGGTCACGTGTGTATCACTGGACCCACAAAATGGTGGCAACACCCTGCTCTTCTTTTTCCTCTTTCCTTAATTGCCCAGTACAAAACACACACATTTCCTTCTTGAATAGGACATGTTTCCTACTTTCAGTGTTAAGCTTGCAACATCTCTTAAAACACCACATAATGCCCTAACTAAATTATGTTTTACTTAATTCAACTCTGGTTGGTTTTCTTACTTTCTTTCTTTCTTTTTTTTTTTGGAGATGGAGTCTCACTCTGTCACCCAGGCTAGAGTGTAGTGGTGCAATCTCGGCTTACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTTCTGTCTCAGCCTCCTGACGAGCTGGGATTACAGGTGTGCACCACCAAGACCAGCTAATTTTTGTATTTTGCAGTGACATGATCATGGTTCACTGCAGCCTCAACCTCCTGGGCTCCAGCGACCCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACCACAGGCATGAGCAACCATGCCAGGCTAATTTTTTTTTTTAACTTTTGGTAGAGACGGGGTCTCACTTTGTTGACCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCTCACGCAGCCTAAACACTTTTAAAAAGGTAGAGATAAAGCAAATCATGCAAGAGCACACTGGGACAAATATTTCAATATAATCCAATACCTGTGCAAAATTGCTGATTCCCACTGTTCCAATGCCATTTTCTGTTGTTACCCATTCGTGTTTCTCTGTGAATTTACGCACTAAAACAGAAGACCAACATTTCAGAAAAGCAGTAGCATTACTTCTTAAGAAGCACTTTTCATTACCATTGCTTTCAAAAGACTTTCCCAGAATTTCTGTTTGACCTGTTGACACTACCTTTAAATAGTGCATGGCTCAGGAAAGAATGAAGATCATGTATAGAGATGACGCATTTAAACAGCAGTACCATTTAAGCAAAGATGGCTTCATCTGAACACCTTGTGCATCTTTTGGAGATTGGATTATCTGCTTTAACATTACTTAGCCTAAATCACAAAAGAAAATTTTGGAGCATATTTCAAATGTATACTTAACTATTACTGGTCTGTCTTGCAGAAAAAAAAATCTGTGCCTCTGAAGACAAATTTGGGGTGATGAGGTTTAGGGAGGCAGCATAAAGATGGCTCATATAAGAAATGATTTAACCTAAAAAAAAAAATAACAGTAATAATCAGGTGCCTCTTTAGGCAGAGTTGACCTAAGAGAGCTTCAGTGCAGCTTGGGTTACAAAGTAAAATTTTACAGGAATGAAACTGACCTCCTGGAACAACTATAATTTGACTAAGTTCTTAAAATTCTACTTTAATCAAATTCAAGCCTAACCTTGAAGATAGCACTACCATCGCTTAAAGAAGAAAATTAAGATCACAACTCAACAGTCTTCTCAGAGCTAAGCCATGGGTTGGTGGAGAATCAAGCTCTGCTCACCACTCACTGGACAGGTTCAGCCCTCGACTTACTGAGCACTTCTCTAAAGATACGGTCAAACGATTCAGGGAATCCTGAAAGAAGGACCGGCCAATGTTCAAGAGTAAAAAGAGTTATTTAGGATATAAAGTTAAAAGTACTTGCCTTAGAGAATAATATTTTTTAAAAAGCATATGCTATATTAAATACAGTTCATATTCTGACACCAAGTATTTTTCTAAAAACAATGCAACGTAAGTTCATAGAAAAATGGTTAACTCAAATACTGTTTTAAAGAGGCCTCACTGGCTCATTTTACCCCTTACCCAAAGGATAGTAGTACTTAAAACAGCATTCAATTGCTTTGGTTACAGCTCTGATACGCAGCACAACGTAAGTAGAGTGTATAATTATTATTTTTATTTTTTATTTTTGTAGAGATGGGGGGGTCTATGTTGTCCAGACTGGTCTCAAATTCCTGAGCTCATGATCCTCCCACCTCAACCTCTCACAGTGCTGGGATAATAGTGTGTGAGCCACCGTGCCTAGCCAAGTATATAATTCAATATTGCTTTCTTTTCCCCTTAATTATGAAACTTTCTAAAGTTCATACCCCTTCAGTGGAAGAAGTCAAAAAATGTGTCACTAAGAAATTTATTTTGCTTCATTCCACTTCAAAGAACTGAATGTTTCAGGTCACTCTGACGTTCAGGTAAGAAAGTTTAAGATGTGTACACTGTGTTTTGACTGAAAGACTCTCCCTACCATCTTTACTAACTACTTCCGGTCTAGATTCAGAAGTCCGTTCCTGCCCAAAGGCTTGTCTAACCAAGTCTAGGTTCTTAGGCCAGCCAACATGCTCTTACGGCACCCTGTACCACTATCCCCCAGCACACACACGGTGCTGAACATACTAGAGATCATCTGTCAGTCTCCCCAGGAAGTAGGCTGTGTACCCACCAAGAAACAGCAAGGTTTATCTTATTTTCATTTGTTTTCCCAATTTTAAATACAGTGCTTGCCACATAGCAAGCACTCAAAAGCTGAAGGAATGAAATAATTTTTTTTTTCCTTAAATTATCATGTCGCAGGCCAGGCACAGTGACTCATGCGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCCGGGGTTTGAGACCAGCCTGGCCAGCATAGTGAAACCACATCTCTACTAAAAAAATACAAAAATTAGCCAGGTGTGGTGGCACACTCCTGTAATGCCAGCGACTTGGGAAGCTGAGGCATGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTG
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AGCTGGTCTTGAACTTTTGACCTCAGATAATCAACTTGCCTCGGCCTTCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCCGGCAAACACTGCTAGCTCTTCTGGGCATGAACATATTTGGTGTTCTTCCACCTCTGTAGTTTTATGTACACCATTGCCCCCAAAGCATTTGCTGAAATCCTGCTCACTGATTCTACAAATCATAGTCCTCACACCTTGTACTCCCTGAAGTCCCTGACTCCAGAAAGAAGTGGTCTCTCCATCAGGTAAGTGAATTACAACCCCACCGTTCCGATGCCATCATGTAATGTTTGCAAGTCATTCTCATGTAGGTAATTCCCCTCACAAATAAACTCTAGGAGGTAAGGACGACATCTTACACAACATCTCAAAAACTATCCAACACTGGGCCTCATAGTAGGTATACAGAGATGCCAAGGAAGATATAATTGTGATTATCAACACACAAGCATCTTACATGTCTGAGGAATTTTGTACAGTCACGTGCCGCCTAATGGCATTTTGGTCAACAACAGACCACATATATGACAGTGGTCCCATGAAATTATAATATAGTTAGTATCACTTGTCCAAAATGCTTGGGAGCAGAAGTGTTTTGGATTTCAGATTTTGGAATACTCGCATTATACTTAATACATGAGCACTCCTCATCCAAGATTCTGGAATCCAAAACGCTCCAATGAGCATTTTCTTTAAGAGTCACGTTGGTGCTCAAAAAGTTTCAGATTTTTGGAGTATTTCAGGGATTAGAGATGCTCAACCTATGCCATATTTTTACTGTACCTTTTCTGTGTTTTGATAGGCCAAGTGTGTTACGATTGCCTACAGTATTCAGTACAGTAACATGCTGTACAGGTTTGTAGCCCAGGAGCAAAGGCTGTACCATACAGCCAAGGTGTGTAATAGGCTGTACCATCTAGGTGTGTGTAAGGGCACCCTAGGAGGCTCACAGAAGGACGCAATCCCCGAGGAGGCAGTTATCAGAACATAGCTCCATCATTAAGTGACACGAGTGCATTCCCATCAGTTAACATCCCCCCTTCCCCGCCTCACCCAATACATACATCCAGTTGAAAATCACTGAACACGCTAGGATTTGGCTTCTCATTTTCTCTTAAACAGTATCGCCATATGGAATTGAGGGGAATTTACAGAGAAAAGATGGGCTGAATAAAAGCCTTCCCTTTGTGTCATCTGTGCCTATTGAGGTTTTCTTTCTTCCCGTCCTCCTGGTCACGTGTGTATCACTGGACCCACAAAATGGTGGCAACACCCTGCTCTTCTTTTTCCTCTTTCCTTAATTGCCCAGTACAAAACACACACATTTCCTTCTTGAATAGGACATGTTTCCTACTTTCAGTGTTAAGCTTGCAACATCTCTTAAAACACCACATAATGCCCTAACTAAATTATGTTTTACTTAATTCAACTCTGGTTGGTTTTCTTACTTTCTTTCTTTCTTTTTTTTTTTGGAGATGGAGTCTCACTCTGTCACCCAGGCTAGAGTGTAGTGGTGCAATCTCGGCTTACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTTCTGTCTCAGCCTCCTGACGAGCTGGGATTACAGGTGTGCACCACCAAGACCAGCTAATTTTTGTATTTTGCAGTGACATGATCATGGTTCACTGCAGCCTCAACCTCCTGGGCTCCAGCGACCCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACCACAGGCATGAGCAACCATGCCAGGCTAATTTTTTTTTTTAACTTTTGGTAGAGACGGGGTCTCACTTTGTTGACCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCTCACGCAGCCTAAACACTTTTAAAAAGGTAGAGATAAAGCAAATCATGCAAGAGCACACTGGGACAAATATTTCAATATAATCCAATACCTGTGCAAAATTGCTGATTCCCACTGTTCCAATGCCATTTTCTGTTGTTACCCATTCGCGTTTCTCTGTGAATTTACGCACTAAAACAGAAGACCAACATTTCAGAAAAGCAGTAGCATTACTTCTTAAGAAGCACTTTTCATTACCATTGCTTTCAAAAGACTTTCCCAGAATTTCTGTTTGACCTGTTGACACTACCTTTAAATAGTGCATGGCTCAGGAAAGAATGAAGATCATGTATAGAGATGACGCATTTAAACAGCAGTACCATTTAAGCAAAGATGGCTTCATCTGAACACCTTGTGCATCTTTTGGAGATTGGATTATCTGCTTTAACATTACTTAGCCTAAATCACAAAAGAAAATTTTGGAGCATATTTCAAATGTATACTTAACTATTACTGGTCTGTCTTGCAGAAAAAAAAATCTGTGCCTCTGAAGACAAATTTGGGGTGATGAGGTTTAGGGAGGCAGCATAAAGATGGCTCATATAAGAAATGATTTAACCTAAAAAAAAAAATAACAGTAATAATCAGGTGCCTCTTTAGGCAGAGTTGACCTAAGAGAGCTTCAGTGCAGCTTGGGTTACAAAGTAAAATTTTACAGGAATGAAACTGACCTCCTGGAACAACTATAATTTGACTAAGTTCTTAAAATTCTACTTTAATCAAATTCAAGCCTAACCTTGAAGATAGCACTACCATCGCTTAAAGAAGAAAATTAAGATCACAACTCAACAGTCTTCTCAGAGCTAAGCCATGGGTTGGTGGAGAATCAAGCTCTGCTCACCACTCACTGGACAGGTTCAGCCCTCGACTTACTGAGCACTTCTCTAAAGATACGGTCAAACGATTCAGGGAATCCTGAAAGAAGGACCGGCCAATGTTCAAGAGTAAAAAGAGTTATTTAGGATATAAAGTTAAAAGTACTTGCCTTAGAGAATAATATTTTTTAAAAAGCATATGCTATATTAAATACAGTTCATATTCTGACACCAAGTATTTTTCTAAAAACAATGCAACGTAAGTTCATAGAAAAATGGTTAACTCAAATACTGTTTTAAAGAGGCCTCACTGGCTCATTTTACCCCTTACCCAAAGGATAGTAGTACTTAAAACAGCATTCAATTGCTTTGGTTACAGCTCTGATACGCAGCACAACGTAAGTAGAGTGTATAATTATTATTTTTATTTTTTATTTTTGTAGAGATGGGGGGGTCTATGTTGTCCAGACTGGTCTCAAATTCCTGAGCTCATGATCCTCCCACCTCAACCTCTCACAGTGCTGGGATAATAGTGTGTGAGCCACCGTGCCTAGCCAAGTATATAATTCAATATTGCTTTCTTTTCCCCTTAATTATGAAACTTTCTAAAGTTCATACCCCTTCAGTGGAAGAAGTCAAAAAATGTGTCACTAAGAAATTTATTTTGCTTCATTCCACTTCAAAGAACTGAATGTTTCAGGTCACTCTGACGTTCAGGTAAGAAAGTTTAAGATGTGTACACTGTGTTTTGACTGAAAGACTCTCCCTACCATCTTTACTAACTACTTCCGGTCTAGATTCAGAAGTCCGTTCCTGCCCAAAGGCTTGTCTAACCAAGTCTAGGTTCTTAGGCCAGCCAACATGCTCTTACGGCACCCTGTACCACTATCCCCCAGCACACACACGGTGCTGAACATACTAGAGATCATCTGTCAGTCTCCCCAGGAAGTAGGCTGTGTACCCACCAAGAAACAGCAAGGTTTATCTTATTTTCATTTGTTTTCCCAATTTTAAATACAGTGCTTGCCACATAGCAAGCACTCAAAAGCTGAAGGAATGAAATAATTTTTTTTTTCCTTAAATTATCATGTCGCAGGCCAGGCACAGTGACTCATGCGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCCGGGGTTTGAGACCAGCCTGGCCAGCATAGTGAAACCACATCTCTACTAAAAAAATACAAAAATTAGCCAGGTGTGGTGGCACACTCCTGTAATGCCAGCGACTTGGGAAGCTGAGGCATGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTG
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Task1_train_22954
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A variant has been detected on Chromosome 16 in GAN, LOC130059498 (gigaxonin| ATAC-STARR-seq lymphoblastoid silent region 7753). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Giant axonal neuropathy 1
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GGCGGATCACAAGGTCAGGAGTTCGATACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAGATGCAAAAGTTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCACAACTGCACTCCAGCCTGGGCAATAGAGGGAGACTCCATCTCAAAAAAAAAAAAGAAAGAAGAAAATATTTTTCAACATCCACAAAAATATAGAAACAGTACAATGAATCTCCACATCCCCATTAAACATCCACAACAATATAGAGACAGTACAACGAATCTCCACATCCCCATTACGTGGCTTTAACAATTAGTAACTTGCGGCCACTTTTGACTCATCTACACTCCCATCTGCTTCCCCATCCCTTTGTTTTGTTTTGAAGCAAATCCTAGACATCTTTATCATTGCATCCGGGAACACTGAGCTGCATTTACAGAAGAAAGTGGAAATGCATGTGTCTTCCACAGCCGTACCCTCCCCATCTATTCTGCCCTGAAAACAGTTAGATACTCGGATTCCTGCCAGTGACTCCAAAGCCTTGGCTGGTTCAGGGTAAATACCCAAGACTTTATTGGAGCCTTTCAGTTGGTTGAAGGACAGTGAAAATTCCATCCTGTCTTGCCTGGAATGCTAGCCACATTCTTCTGGTCCGGAGTCCTCATACAATTGCTAATTTTTTAGAGGCTTATGGAGTCCCTAACGTTTGCACAAAATGGTTGCTACATTCCACACTCCCATGTGCCCTGAGCAACCTCCAGGGAAACTTCAGATACCGTGGGGCTTGGCCTGCCAGCTGAGCTGACCCAGCGATCCTTTCTATCACAGCTTTGATCTTCACTGGGTTGGGAGCCTGTCTGAATCTAAACATCTGCCTCTCTACTGCCCACCCCTTCAGCATTTCCTAGCTCTCCCTGAAAGGTGCAAACATGCATGCAGTTACTCAAACAGAATATTTATCCTTAACTCCCTCTCCCTCACAATTTCTTTTAAAACAATCCACTATTGTCTACCCCCGCCCCCGCATCACCCTTTCATCCAGGTGCCCATTCCCTTCTCTCTAGTCCTGCAATACCTAAGCATCGATCTGCCTTTAGCACATCCATCCCCGCCTTATTCTCCACGCAGGAGCTGAGTGACCTGCACAAAATCCCCTGCTAAATACGGTACTTCCATGGTTCTTCACCACTGCAGAAACCAAACTCCTTCCCACACCAAGGAGGCCCTGCAAAATTTAAGGCCTCCTTCGGACTTCTCCAGCTTCATCTGCTACATCTCCTTCCTAGCCCGCAACCAAAACCATCTTTTCCGGGTCTGTTTTCTCGGGTTTTTGTCCTCTCACCTGGGCAGCTCCTTTTCTCTCATAAATAAAGAAAGCTACAGCGACTTCGCCCTTGCTTCCATGCATCATCTCATGAGTCCACAACAACACTAAGAATTCGCTTTCATTTTGCAGACGGAGAAACTGAGGATGGGCACCTTACCCATGGCCACAGAGCTAGTAAGTGGAACAGCTGCAACCAGGATTCAAACTCGCGGCTCCAGAGGCCACAGGCTTAACCACGGAATCCTAGCCCGCCCGCACATCCCTCCATCGCGGGAGCGACCTATCTCATCCGTAGACACCTTCCGCTGCACCCAGCCGCAGCTGGTCAGGCGGGCGGAGGAAGGAGGCTTCTGATTGGCCATCTCCAGCAGCGGAGGCGAGAAGGCGGGGAGCGACGGTGCGGGGGCGTCGCGGAGAAATGACTTCATGACGCGGCTTCTTAAAGGCGCCGGCCCAGCGCGCCGCGGATAGCACAGGCACGTCCCGGGGGCTCCAGCTTCTGCTCAGAGCGCGGAGAGCCGGGCCGGGCGGGCGCGCGCGCAGGACTCGGGCCGCTCGAGGGGTCCGGCCGGACGGTGTCGGGAGCCGGACCCGTCGGCAGAGGAGCGGGCGCCGCGATGGCTGAGGGCAGTGCCGTGTCTGACCCTCAGCACGCCGCGCGTCTGCTGCGAGCGCTCAGCTCTTTCCGCGAGGAGTCTCGCTTCTGCGACGCGCACCTGGTCCTCGACGGGGAGGAGATCCCGGTGCAGAAGAACATCCTGGCGGCGGCCAGCCCGTACATCAGGTGGGGAGGGGGCTACGGCGGGCGGGCGCGGCGGTGCTGCCCGGAGCCGGAGGCGGGGCGGCCGGGCCGGGCGTGGCCCCCAGACCCTGTCCCCTGTCCCCGGCGCCGGGGTCCCCGCGTCACCGTTGGCGCGGCGTCCCTCCCGGCAAGCGCCGGAACCCGGCCCCGCTGACCGCGTCCCCCAGGCGGCCTCTGTGGCTTCCAGGCCCGCGCTCCCCACTGGACCCCCGCGCCCCTTGGAGTTGTCCCCGGACCCGGGCCGCGATCCCCCGCCTTGTCCCTCCCGGTTCCCACCGCCGCGGCGAGCGCCCGACCTCGGAGACCCTGAGGCCCCCAGACGCCGTCCTGGGCCGGCCGGGACCCGCACCTGCGGGCTGGGCGAGGCCGCGCCGGGGAAGAGTCACCCCCTCGCCCAGGCCGGGCCCGCGGTCCCCGCTGAAGTTCGCCAGTCGCTCGCCTCTGAATCCACGCGCGGGGGCTGGGCCGGCGCCGCCAACCAGGCGGGGAGCGCCCTGCCCGCTGGGAGGCCAGACAGACAGCGCCTCGCTGGGTGCAGGCAGAGAAAACCCTCTCGATGTTCTCCTTGGGTTGGTAGTCCGAACCTCCGGGCGAAATTCTCCTTGCCAAACGTGTCTTTTCCGCTCCATTCTGGTAACTGTTTAAAAGAGGAGTTACACGTTGAAGTAAACTGTAGCGAATTCTCAGGATGCTGTTACAACCCGAGGACCGTGAGAGCCTTGCGACAAAGGGCATTTTAATACTTTAGTAAAGCAAAGCTTAACCTGATTTGCCAACTCAACTAACCAGGTTAATTAAAAGGTTGATAAGACAGTGCTTATACAAGTGTATCAGATCTTGCAGGAGACTATCTTTTCTTTTAGCAACCTTCTTGCAAACTAGGTTGCTGTTTTAATAAAAGGAAAGGGGGGAATGCTAAAAACTGGAGAAACTGACCAGTAAGCTGGTTAAATATAAGCTAGTGGTAGAGAATATCACTACAATTGACAGGTCAGAAAAAGCAAAATGATGTGTATTCTTAGCGCTTTGTCCCAGCAAAACCACCACGCACGCTACACTTTTAACCTTTGCATTGGGGAGATATCTGTGCTAAACTTAGAAGAAATTCAAGTGCCCTTGTAACTTCTGGTTTCTCTTGGATTTGTTTTGTGAATCCATTTGCGCTCTTTGGCGGTGGGGAGTGTGGAGGGGTGGGGGGGCGGGGCGGCAGTAGGGTCTGGGGTAGCATCGTTAGTACAGAATTTGGATTGCTAATGTGACAGACAGCTTCTAGCTGGCAGTTCCGAGGTTTGAGCAACCCATCCCAAATTGGAGTCAGCAGACCAAAGTCTTCCCTGTTTGGGAAAATGCTGAAGAAAACTACTTTAGATGCATTATTGTTATAGTTCTTTAAATGGCATCCGTTTGGCTTAAAAGAAGTAAATTGCAAATTGCCGAATCCTTGCTTGTTATCCTTGTTCGTTTTTCTCCATAGCACTTACCACTTTGACGTACCCCATATTTTACACATTTACTTTGGTGGTCTTTCCCAACCACAGTGTGACCTCAATGAGGTCGTGGTGTTTTGTTTTGTTTTTCGAGACTGAGTTTCACTCTTTAGCCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCCCACTGCAACCTCCGCCTTCCAGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAACGCCCGCCACCACGCCCGGATAATTTTTGTATTTTTAGTAGAGTCGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGTGGCACCCGGCGGTGTTTTCTTTTATTCACTGCTTTACTCTTTGCACCCAGAAAGAACT
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GGCGGATCACAAGGTCAGGAGTTCGATACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAGATGCAAAAGTTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCACAACTGCACTCCAGCCTGGGCAATAGAGGGAGACTCCATCTCAAAAAAAAAAAAGAAAGAAGAAAATATTTTTCAACATCCACAAAAATATAGAAACAGTACAATGAATCTCCACATCCCCATTAAACATCCACAACAATATAGAGACAGTACAACGAATCTCCACATCCCCATTACGTGGCTTTAACAATTAGTAACTTGCGGCCACTTTTGACTCATCTACACTCCCATCTGCTTCCCCATCCCTTTGTTTTGTTTTGAAGCAAATCCTAGACATCTTTATCATTGCATCCGGGAACACTGAGCTGCATTTACAGAAGAAAGTGGAAATGCATGTGTCTTCCACAGCCGTACCCTCCCCATCTATTCTGCCCTGAAAACAGTTAGATACTCGGATTCCTGCCAGTGACTCCAAAGCCTTGGCTGGTTCAGGGTAAATACCCAAGACTTTATTGGAGCCTTTCAGTTGGTTGAAGGACAGTGAAAATTCCATCCTGTCTTGCCTGGAATGCTAGCCACATTCTTCTGGTCCGGAGTCCTCATACAATTGCTAATTTTTTAGAGGCTTATGGAGTCCCTAACGTTTGCACAAAATGGTTGCTACATTCCACACTCCCATGTGCCCTGAGCAACCTCCAGGGAAACTTCAGATACCGTGGGGCTTGGCCTGCCAGCTGAGCTGACCCAGCGATCCTTTCTATCACAGCTTTGATCTTCACTGGGTTGGGAGCCTGTCTGAATCTAAACATCTGCCTCTCTACTGCCCACCCCTTCAGCATTTCCTAGCTCTCCCTGAAAGGTGCAAACATGCATGCAGTTACTCAAACAGAATATTTATCCTTAACTCCCTCTCCCTCACAATTTCTTTTAAAACAATCCACTATTGTCTACCCCCGCCCCCGCATCACCCTTTCATCCAGGTGCCCATTCCCTTCTCTCTAGTCCTGCAATACCTAAGCATCGATCTGCCTTTAGCACATCCATCCCCGCCTTATTCTCCACGCAGGAGCTGAGTGACCTGCACAAAATCCCCTGCTAAATACGGTACTTCCATGGTTCTTCACCACTGCAGAAACCAAACTCCTTCCCACACCAAGGAGGCCCTGCAAAATTTAAGGCCTCCTTCGGACTTCTCCAGCTTCATCTGCTACATCTCCTTCCTAGCCCGCAACCAAAACCATCTTTTCCGGGTCTGTTTTCTCGGGTTTTTGTCCTCTCACCTGGGCAGCTCCTTTTCTCTCATAAATAAAGAAAGCTACAGCGACTTCGCCCTTGCTTCCATGCATCATCTCATGAGTCCACAACAACACTAAGAATTCGCTTTCATTTTGCAGACGGAGAAACTGAGGATGGGCACCTTACCCATGGCCACAGAGCTAGTAAGTGGAACAGCTGCAACCAGGATTCAAACTCGCGGCTCCAGAGGCCACAGGCTTAACCACGGAATCCTAGCCCGCCCGCACATCCCTCCATCGCGGGAGCGACCTATCTCATCCGTAGACACCTTCCGCTGCACCCAGCCGCAGCTGGTCAGGCGGGCGGAGGAAGGAGGCTTCTGATTGGCCATCTCCAGCAGCGGAGGCGAGAAGGCGGGGAGCGACGGTGCGGGGGCGTCGCGGAGAAATGACTTCATGACGCGGCTTCTTAAAGGCGCCGGCCCAGCGCGCCGCGGATAGCACAGGCACGTCCCGGGGGCTCCAGCTTCTGCTCAGAGCGCGGAGAGCCGGGCCGGGCGGGCGCGCGCGCAGGACTCGGGCCGCTCGAGGGGTCCGGCCGGACGGTGTCGGGAGCCGGACCCGTCGGCAGAGGAGCGGGCGCCGCGATGGCTGAGGGCAGTGCCGTGTCTGACCCTCAGCACGCCGCGAGTCTGCTGCGAGCGCTCAGCTCTTTCCGCGAGGAGTCTCGCTTCTGCGACGCGCACCTGGTCCTCGACGGGGAGGAGATCCCGGTGCAGAAGAACATCCTGGCGGCGGCCAGCCCGTACATCAGGTGGGGAGGGGGCTACGGCGGGCGGGCGCGGCGGTGCTGCCCGGAGCCGGAGGCGGGGCGGCCGGGCCGGGCGTGGCCCCCAGACCCTGTCCCCTGTCCCCGGCGCCGGGGTCCCCGCGTCACCGTTGGCGCGGCGTCCCTCCCGGCAAGCGCCGGAACCCGGCCCCGCTGACCGCGTCCCCCAGGCGGCCTCTGTGGCTTCCAGGCCCGCGCTCCCCACTGGACCCCCGCGCCCCTTGGAGTTGTCCCCGGACCCGGGCCGCGATCCCCCGCCTTGTCCCTCCCGGTTCCCACCGCCGCGGCGAGCGCCCGACCTCGGAGACCCTGAGGCCCCCAGACGCCGTCCTGGGCCGGCCGGGACCCGCACCTGCGGGCTGGGCGAGGCCGCGCCGGGGAAGAGTCACCCCCTCGCCCAGGCCGGGCCCGCGGTCCCCGCTGAAGTTCGCCAGTCGCTCGCCTCTGAATCCACGCGCGGGGGCTGGGCCGGCGCCGCCAACCAGGCGGGGAGCGCCCTGCCCGCTGGGAGGCCAGACAGACAGCGCCTCGCTGGGTGCAGGCAGAGAAAACCCTCTCGATGTTCTCCTTGGGTTGGTAGTCCGAACCTCCGGGCGAAATTCTCCTTGCCAAACGTGTCTTTTCCGCTCCATTCTGGTAACTGTTTAAAAGAGGAGTTACACGTTGAAGTAAACTGTAGCGAATTCTCAGGATGCTGTTACAACCCGAGGACCGTGAGAGCCTTGCGACAAAGGGCATTTTAATACTTTAGTAAAGCAAAGCTTAACCTGATTTGCCAACTCAACTAACCAGGTTAATTAAAAGGTTGATAAGACAGTGCTTATACAAGTGTATCAGATCTTGCAGGAGACTATCTTTTCTTTTAGCAACCTTCTTGCAAACTAGGTTGCTGTTTTAATAAAAGGAAAGGGGGGAATGCTAAAAACTGGAGAAACTGACCAGTAAGCTGGTTAAATATAAGCTAGTGGTAGAGAATATCACTACAATTGACAGGTCAGAAAAAGCAAAATGATGTGTATTCTTAGCGCTTTGTCCCAGCAAAACCACCACGCACGCTACACTTTTAACCTTTGCATTGGGGAGATATCTGTGCTAAACTTAGAAGAAATTCAAGTGCCCTTGTAACTTCTGGTTTCTCTTGGATTTGTTTTGTGAATCCATTTGCGCTCTTTGGCGGTGGGGAGTGTGGAGGGGTGGGGGGGCGGGGCGGCAGTAGGGTCTGGGGTAGCATCGTTAGTACAGAATTTGGATTGCTAATGTGACAGACAGCTTCTAGCTGGCAGTTCCGAGGTTTGAGCAACCCATCCCAAATTGGAGTCAGCAGACCAAAGTCTTCCCTGTTTGGGAAAATGCTGAAGAAAACTACTTTAGATGCATTATTGTTATAGTTCTTTAAATGGCATCCGTTTGGCTTAAAAGAAGTAAATTGCAAATTGCCGAATCCTTGCTTGTTATCCTTGTTCGTTTTTCTCCATAGCACTTACCACTTTGACGTACCCCATATTTTACACATTTACTTTGGTGGTCTTTCCCAACCACAGTGTGACCTCAATGAGGTCGTGGTGTTTTGTTTTGTTTTTCGAGACTGAGTTTCACTCTTTAGCCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCCCACTGCAACCTCCGCCTTCCAGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAACGCCCGCCACCACGCCCGGATAATTTTTGTATTTTTAGTAGAGTCGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGTGGCACCCGGCGGTGTTTTCTTTTATTCACTGCTTTACTCTTTGCACCCAGAAAGAACT
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Task1_train_22955
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This mutation is located in gene GAN (gigaxonin) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Giant axonal neuropathy 1
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TGTAGTGAGCCATGATTGCGCCACTGCACTCCAGACTGGGTGACAGAGTGAGACCCTGTCTCAAAAACAAAAATAAAAGAAATTTTGTTAATATTATTTCCTGTTCTGTTTGTATTCAGTCTACCAAAAGTCTGATCCTTTGTTGACTTTATTGTAGAAGTCTGAATGCAAATAATGAGTTTAAATATTTGTTTCTAAGAAGTTCTCCCTGTAACTCACTATTTGGATTACAGTATTTGAAGGTGTGCTTTTCTTTTCTTAGAAAACATGGTTGTTAGGTAGCAGGTAACACAGTGTCAATCTTGAGATTTAACAGAGTTATAATTCATACCAAGAGCATGTTTCAAAGCTATTTTTAAATTTCACTTGAATTTTTTTTTAAACCTTAAATTTTCTTAGTAAAAAATAACAGGAATATCTAGATATAAGTTCTTAAAACAAAAAGCATTGACCGAAAAATTGTTCTTCAAATTCTTCATCAGTTTGTTTAAGAAGTCTTTTTTTTTTAAGTTTTTTAAAAGGCCCCTTTTAAAAAGTTCATGTCTGTTAAATGATTAGTATCACAAATATGTAAAGAACTCCTACACCGCAATGTGAGGACAGTTAGTGAAAAATGAACAAGAAACATGAACAAACGTTTTGCAAAAGGGGAAACGTGGCTACAAACATACAAAGAGATGTTCAGCACCTGGGTAGTAAGAGAATGCAGATGATAACCACAGTGAGATACCATATTTCACTCATTCAATTGACAAAACTTAAGAAGTGTGACAGATTCAAATGTTGTAGAGTTTATGAATCCGCAGATGCCCTTACACATACATAGTATATGAGGCTGTAAACAGCGCCACCTACTATGGAGAATAAGTAGCATAATTCTACTCCCAGGAGTAGACCCAAGGGAAATTTTTGTTTATTTATTTATTTACTTACTTAATTTTTTTTTTTTTTTGAGGCAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCATTATCTCAGCTTACTGCAACCTCCATCTCCCAGGTTCGAGCTATTTTTGTGCCTCAGCCTCCTGAGCTGCTGGGATTGCAGGCGTATGCCACCACCACTCCCAGTCGATGTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGGCCTCAAGTGAGCTACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCGAAAAATTCTTTAACATAGCACAAAAGAGTCATATGCAATAATAGTCATAGCATCACAGTTTGCAATATCGAAAACCTGGAGACAACCCCAGATGCCCATCAACAGGAAAATGGGATATTGCACAGCAGAAAGAACTAAAGAACCAGTGTGATATGCACACCTCTATAAAATTTTAAGTCATTTATATAAAACAATAATGCAAAATGGATGACTAATTATAAAACAAGTTAAAATTTAAAATATATATTTCACGGATGCAGTAATAAAGCAAGGAAAAAGTGAGCATAGGATTTGGGATAATGGTTACTTCAGATGGTGGAAGCAGAGGAATGGATTGGTGGGGAAGACCATCTGGTTAGAAGCGGGCTATTGACAAGGTCTTAGCTTTTGTTTTGGATGGCAGGTTTGTGGAGTCCTTGTTACATTATTGAAGATTAATTAGAGAATTCAATACATTAGAAAATAAGCCTAAAGGGACTGGGATTTCCAAGGTGAAATACAGATTCATGGTCATGTGGATCTTAGTTCTTTGGTCATCTGTTTTGTTTTTGTTTTTTAAGAAGTAGCATTTGGGATCCTGGGACCAATGTTTTGTAGTTGAAAGTTATAGAAATACATAGACCTAAAGTTAACGAACTAAATTTTCTAGGTGGGGATTCATATACTGATAAGTATCTTATACGTTATAGAGTTTTGAGTACATAAATATTTATAGCTATTTCTGTTCTTTCATAGAAATTTTACATTTTTTTCCCTTTCTTAGGACAAAGTTAAACTATAATCCTCCAAAAGATGATGGATCAACTTATAAGATTGAACTTGAAGGGATATCGGTAATGGTTATGAGAGAGATCCTGGATTACATCTTCAGTGGGCAGGTATGATGAGAAACAAAGGAAGGAAGACCTAAGTAGAGGCTTCTCAAGCTCAGGGTGAGGGTCTCCTTTCATCCATTATATGACAAAGTAGCACTGTCATCTTCATCTTCTGTCACTGTGTGCATTGACTGACATTTCCTACTGGTAATGGCACCCCATGTGTGTTCTTCCATGGCTGTGCTCCTAGAGAAGCAGAGGAAGTAAGATCTTAGACTCAAATCTCAGTTTGTTGCTACCATTCTGAGCTCCACCTTCTCATATGAGATATTAAAGAACATGGGATGCTGCCCTGACTGCTGTGTTTTTGGTTTTTGCTTTGGAATCCCGATTCCAGTCTTGCTTTGTATCCATATGACTGGGGATACAAAACTTGTTTTGTCTCCATAGCATGGAAATAGGAACTTCCTGGGGCGTTGTGGATTATTTGGTAGAAATAGAGAGTTCCTTGTAGATCATTCCCAGAGAAAGATGACTGACAGACATGACAAGCACCTTATTCACGATGCCCTGGTCCTGTTGCCTCAGTAGTACCCACATCCCTGCCCCACCCTTATTCTCTCTTCCCTCTCCATGTCCACTTGAACCTCTGGGGACTTTGTGATACCCAGGGAGGAGAATGATAAACGATCAGACTTCTTTCTTTTCCTTTGCCCTCCTCCGACTACCCATTCCCCATGACGTGATTTCAAGCAAAGCATGAGGACTCAAGAAAAATCTTCCGTGTGAATCAGGGCTAGTTTTTTGTTTTGTTTTTTTAACAGAAGGAAGAGGTCAGTGCATCTTACCTTTGGCTGTGTGAGAATGCATTTCATCTTTATTCTTTCTGAGATCTTGTTCCCTACTCTCTCCTTTATTCTTTCTTTATCCCTCTTGTTTTCCTTTCTGTAGGGGCTGTTTGTCTTACATATTTTCTAAGTATTCTGAATGTATTGCTTTCTTTATCTAAATATATTCATTCTGTCCAGAGTTAAACGCAGTGATTCTCATCCTTTTTGAAGGTTTTGGTTTGATTTCATGCTTTCTCTCTTCTCTCAGCACTAGTGGGTGGGTGTGTACGTGTATGATTGTTAAAAGTAAATGAATTTAAGTTAATCTGGGGACAGCCCAGAGATGCTCTGTAGCATCACATAACCAGGGCTAAGACCAACCTCTCCTCCACCTTGTAAAGTCAATCCAGCAGCAGTTATTAGTATAATGAGTTATAAGCCAGTAAGAGCCTATTCATGTTCAGGCTTGGATTTGAAAGTTGAAACATTATTTACAGATTGAGTTCTGTGATTTGTTCCCAATTTAAATTTAAAACGATAGTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCGTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAACGATAGTTGGAATGTAAGTTATAACAAACTCCTGAATTGGCAGTTTTGTTTTATTGAAATGCAGTTGAGTGTTTTTTTCACGTGCCTATATTTGAAGAGTCTACAGCTGCCTGCTGTCTTGTGGCTAAATATAATGTCATATAAATGGAACATTTTCCCCTACTTGTGGCTTACTCACCATACTACTTTCCACATTTTTGTTGCTCAGTTTCTAAGATGATTGGCAATTATACTTTTTTAAAAATCTGTGGTACAAAAAGTGTAAAATGTAAAAATGTTTCTTGCTATACTCCTCATGAAGTCTCCCTTGCATTTGCGAATGTGGGTGAAGTGCCCATGCTTTGGGGTCGTCCACTTAGGACTGTGGCAAT
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TGTAGTGAGCCATGATTGCGCCACTGCACTCCAGACTGGGTGACAGAGTGAGACCCTGTCTCAAAAACAAAAATAAAAGAAATTTTGTTAATATTATTTCCTGTTCTGTTTGTATTCAGTCTACCAAAAGTCTGATCCTTTGTTGACTTTATTGTAGAAGTCTGAATGCAAATAATGAGTTTAAATATTTGTTTCTAAGAAGTTCTCCCTGTAACTCACTATTTGGATTACAGTATTTGAAGGTGTGCTTTTCTTTTCTTAGAAAACATGGTTGTTAGGTAGCAGGTAACACAGTGTCAATCTTGAGATTTAACAGAGTTATAATTCATACCAAGAGCATGTTTCAAAGCTATTTTTAAATTTCACTTGAATTTTTTTTTAAACCTTAAATTTTCTTAGTAAAAAATAACAGGAATATCTAGATATAAGTTCTTAAAACAAAAAGCATTGACCGAAAAATTGTTCTTCAAATTCTTCATCAGTTTGTTTAAGAAGTCTTTTTTTTTTAAGTTTTTTAAAAGGCCCCTTTTAAAAAGTTCATGTCTGTTAAATGATTAGTATCACAAATATGTAAAGAACTCCTACACCGCAATGTGAGGACAGTTAGTGAAAAATGAACAAGAAACATGAACAAACGTTTTGCAAAAGGGGAAACGTGGCTACAAACATACAAAGAGATGTTCAGCACCTGGGTAGTAAGAGAATGCAGATGATAACCACAGTGAGATACCATATTTCACTCATTCAATTGACAAAACTTAAGAAGTGTGACAGATTCAAATGTTGTAGAGTTTATGAATCCGCAGATGCCCTTACACATACATAGTATATGAGGCTGTAAACAGCGCCACCTACTATGGAGAATAAGTAGCATAATTCTACTCCCAGGAGTAGACCCAAGGGAAATTTTTGTTTATTTATTTATTTACTTACTTAATTTTTTTTTTTTTTTGAGGCAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCATTATCTCAGCTTACTGCAACCTCCATCTCCCAGGTTCGAGCTATTTTTGTGCCTCAGCCTCCTGAGCTGCTGGGATTGCAGGCGTATGCCACCACCACTCCCAGTCGATGTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGGCCTCAAGTGAGCTACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCGAAAAATTCTTTAACATAGCACAAAAGAGTCATATGCAATAATAGTCATAGCATCACAGTTTGCAATATCGAAAACCTGGAGACAACCCCAGATGCCCATCAACAGGAAAATGGGATATTGCACAGCAGAAAGAACTAAAGAACCAGTGTGATATGCACACCTCTATAAAATTTTAAGTCATTTATATAAAACAATAATGCAAAATGGATGACTAATTATAAAACAAGTTAAAATTTAAAATATATATTTCACGGATGCAGTAATAAAGCAAGGAAAAAGTGAGCATAGGATTTGGGATAATGGTTACTTCAGATGGTGGAAGCAGAGGAATGGATTGGTGGGGAAGACCATCTGGTTAGAAGCGGGCTATTGACAAGGTCTTAGCTTTTGTTTTGGATGGCAGGTTTGTGGAGTCCTTGTTACATTATTGAAGATTAATTAGAGAATTCAATACATTAGAAAATAAGCCTAAAGGGACTGGGATTTCCAAGGTGAAATACAGATTCATGGTCATGTGGATCTTAGTTCTTTGGTCATCTGTTTTGTTTTTGTTTTTTAAGAAGTAGCATTTGGGATCCTGGGACCAATGTTTTGTAGTTGAAAGTTATAGAAATACATAGACCTAAAGTTAACGAACTAAATTTTCTAGGTGGGGATTCATATACTGATAAGTATCTTATACGTTATAGAGTTTTGAGTACATAAATATTTATAGCTATTTCTGTTCTTTCATAGAAATTTTACATTTTTTTCCCTTTCTTAGGACAAAGTTAAACTATAATCCTCCAAAAGATGATGGATCAACTTATATGATTGAACTTGAAGGGATATCGGTAATGGTTATGAGAGAGATCCTGGATTACATCTTCAGTGGGCAGGTATGATGAGAAACAAAGGAAGGAAGACCTAAGTAGAGGCTTCTCAAGCTCAGGGTGAGGGTCTCCTTTCATCCATTATATGACAAAGTAGCACTGTCATCTTCATCTTCTGTCACTGTGTGCATTGACTGACATTTCCTACTGGTAATGGCACCCCATGTGTGTTCTTCCATGGCTGTGCTCCTAGAGAAGCAGAGGAAGTAAGATCTTAGACTCAAATCTCAGTTTGTTGCTACCATTCTGAGCTCCACCTTCTCATATGAGATATTAAAGAACATGGGATGCTGCCCTGACTGCTGTGTTTTTGGTTTTTGCTTTGGAATCCCGATTCCAGTCTTGCTTTGTATCCATATGACTGGGGATACAAAACTTGTTTTGTCTCCATAGCATGGAAATAGGAACTTCCTGGGGCGTTGTGGATTATTTGGTAGAAATAGAGAGTTCCTTGTAGATCATTCCCAGAGAAAGATGACTGACAGACATGACAAGCACCTTATTCACGATGCCCTGGTCCTGTTGCCTCAGTAGTACCCACATCCCTGCCCCACCCTTATTCTCTCTTCCCTCTCCATGTCCACTTGAACCTCTGGGGACTTTGTGATACCCAGGGAGGAGAATGATAAACGATCAGACTTCTTTCTTTTCCTTTGCCCTCCTCCGACTACCCATTCCCCATGACGTGATTTCAAGCAAAGCATGAGGACTCAAGAAAAATCTTCCGTGTGAATCAGGGCTAGTTTTTTGTTTTGTTTTTTTAACAGAAGGAAGAGGTCAGTGCATCTTACCTTTGGCTGTGTGAGAATGCATTTCATCTTTATTCTTTCTGAGATCTTGTTCCCTACTCTCTCCTTTATTCTTTCTTTATCCCTCTTGTTTTCCTTTCTGTAGGGGCTGTTTGTCTTACATATTTTCTAAGTATTCTGAATGTATTGCTTTCTTTATCTAAATATATTCATTCTGTCCAGAGTTAAACGCAGTGATTCTCATCCTTTTTGAAGGTTTTGGTTTGATTTCATGCTTTCTCTCTTCTCTCAGCACTAGTGGGTGGGTGTGTACGTGTATGATTGTTAAAAGTAAATGAATTTAAGTTAATCTGGGGACAGCCCAGAGATGCTCTGTAGCATCACATAACCAGGGCTAAGACCAACCTCTCCTCCACCTTGTAAAGTCAATCCAGCAGCAGTTATTAGTATAATGAGTTATAAGCCAGTAAGAGCCTATTCATGTTCAGGCTTGGATTTGAAAGTTGAAACATTATTTACAGATTGAGTTCTGTGATTTGTTCCCAATTTAAATTTAAAACGATAGTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCGTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAACGATAGTTGGAATGTAAGTTATAACAAACTCCTGAATTGGCAGTTTTGTTTTATTGAAATGCAGTTGAGTGTTTTTTTCACGTGCCTATATTTGAAGAGTCTACAGCTGCCTGCTGTCTTGTGGCTAAATATAATGTCATATAAATGGAACATTTTCCCCTACTTGTGGCTTACTCACCATACTACTTTCCACATTTTTGTTGCTCAGTTTCTAAGATGATTGGCAATTATACTTTTTTAAAAATCTGTGGTACAAAAAGTGTAAAATGTAAAAATGTTTCTTGCTATACTCCTCATGAAGTCTCCCTTGCATTTGCGAATGTGGGTGAAGTGCCCATGCTTTGGGGTCGTCCACTTAGGACTGTGGCAAT
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Task1_train_22956
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This gene mutation involves GAN (gigaxonin) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Giant axonal neuropathy 1
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GGCTGTGTGAGAATGCATTTCATCTTTATTCTTTCTGAGATCTTGTTCCCTACTCTCTCCTTTATTCTTTCTTTATCCCTCTTGTTTTCCTTTCTGTAGGGGCTGTTTGTCTTACATATTTTCTAAGTATTCTGAATGTATTGCTTTCTTTATCTAAATATATTCATTCTGTCCAGAGTTAAACGCAGTGATTCTCATCCTTTTTGAAGGTTTTGGTTTGATTTCATGCTTTCTCTCTTCTCTCAGCACTAGTGGGTGGGTGTGTACGTGTATGATTGTTAAAAGTAAATGAATTTAAGTTAATCTGGGGACAGCCCAGAGATGCTCTGTAGCATCACATAACCAGGGCTAAGACCAACCTCTCCTCCACCTTGTAAAGTCAATCCAGCAGCAGTTATTAGTATAATGAGTTATAAGCCAGTAAGAGCCTATTCATGTTCAGGCTTGGATTTGAAAGTTGAAACATTATTTACAGATTGAGTTCTGTGATTTGTTCCCAATTTAAATTTAAAACGATAGTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCGTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAACGATAGTTGGAATGTAAGTTATAACAAACTCCTGAATTGGCAGTTTTGTTTTATTGAAATGCAGTTGAGTGTTTTTTTCACGTGCCTATATTTGAAGAGTCTACAGCTGCCTGCTGTCTTGTGGCTAAATATAATGTCATATAAATGGAACATTTTCCCCTACTTGTGGCTTACTCACCATACTACTTTCCACATTTTTGTTGCTCAGTTTCTAAGATGATTGGCAATTATACTTTTTTAAAAATCTGTGGTACAAAAAGTGTAAAATGTAAAAATGTTTCTTGCTATACTCCTCATGAAGTCTCCCTTGCATTTGCGAATGTGGGTGAAGTGCCCATGCTTTGGGGTCGTCCACTTAGGACTGTGGCAATATTTTAGAGAACTGTTTCTTTCCTGATGCTTTGGAGCACTGTGAAGTCAGTGGAGGAAGAAGCATTAGTCAGAAAATTGAAGAAAATTAAGGAAAAGTAGATGTTCATAATGAGAAAAAAAAAACACCCTTGTATTAGGGATTTATTCCAAAAAGTAGTTTTGAGACCTAAGTGTATCTGTCTGTGTACCAAATTGCACTGCGTACAGTGTTTTGGGATGCGGAATGAGGCTTCTGAAACACTGGAAACCCCTCTCCCTTCAAGGGGTTAGCATTCAGGTTGGCATGCCATTTAGCGGAAGAGTGAACTTCATAGGTGGGGAGGCAAGATTTTCATCAGTTCTGATGCTGGTACTTAATCATGTTGACTTTACCATAGAATGTAGAACTTTCCATTTCCCAAGCATTTGAGTCATTAAGGTTTTTCTCTGAATTACAGAAGTGAACAACATGGACAGTTCACCCTAAAAGGGTTATTGGTGGTTGACATTGGTACAGCAAGGGCAGAGCTGGGAAAAGTTAACCAAGCACACATTTGCTTATGTTGGTGCCTTCCAACTCTTGGAAAAAAAAAAAAAAATGCTGGGTTAAACCATATGAAATTGCCAATATTCGATTATCTTTGATCTAAAATAAATGGAAATTTCATGTGGCCCCAATTAATAGGTTAGTGGTTTGGGTTTTAAATGTACACATTCAAATATAAGATAATTATGCTACTTTTTTAGATCAGGCTAAATGAAGATACAATCCAAGATGTTGTTCAGGCAGCTGACCTGCTGCTACTGACGGACCTTAAAACCCTGTGCTGTGAGTTTTTGGAAGGCTGCATTGCTGCTGAGAACTGTATTGGTATCCGTGACTTTGCACTACATTACTGCCTCCATCACGTTCATTACCTTGCCACAGAATACCTGGAGACTCATTTCCGAGACGTCAGCAGCACGGAAGAATTCTTAGAGCTGAGTCCTCAAAAGCTTAAAGAAGTGATTTCTCTTGAGAAGTTAAACGTTGGCAATGAAAGATATGTCTTTGAAGCAGTAATTCGATGGATAGCACATGATACAGAAATAAGAAAGGTACCTGTCATTTATAACATGGTCAAATTTGCCTTTTTATTTCTTTTTAATTCAAATTTTAGTTGTTTTATTTTTCTTCTTCATCATGAAAGACTTACGATGCAGCAATCTAAAAGATACCTGTAAAACATGTTCCCCTATATCATGAAAGCAGTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCAGGCAGGCTCTGGAGTTTGTGTGGCAGTGCAGTTTCAAGAGGGAAGGTTCTGGGAGTGAAGGTCTTAAAGAATATCAGCCTCTAGATCCAAATTGTGAATACCTTGGAGGAAGGAGCAAAATCACAGGACTTGAGGGTTTTGAGGGGGCAGAGAGTCTCAGTCTGTCTCCCAGGCTGAAGGGCAGTAGCCAGAGTGGCACGATCATAGCTCACTGCAGTCCCAACCTTCCTGGCTGAAGTGATCTTCCCACCTCAGCCTCCGAGTAGCTAGGACCACAGGCGTGTGCCACCATGCCTAGCTAATTGTTTGATTTTTGTAGAGACAGGGTCTCGCTGTGCTGCCCAGGCTGGTCTCAAACTCCTGTGCTCAAGCAATCCTCCCACTCTAGCTTCCCAAAGTGCTGGGATTACAAGTGTGAACCACCATGCCCAGCCAGGACTTCATTTTTAAGTCTGATTATTATAAATAAGACACTAGCTCCAATTACTGTTTTCAAAATAAGAAATATATTAGGTGTTAGAGAGTGGATCTCACAATGTATAATTTTACTGTTAATTGTTCTTGTAAGTTAAAACTGGACTGTTAAATTTTGATGATTATCTTATAATTTTTTGAATTCTGTAAGCCCATAAGTATGCATGTTTAGAAACCATATTTGTAGTATTGGTTTTAATTGGGACAGGTAAGGACAGGTAGTGTTCTGCTTTCCATGTTAGTTGGGGAAATTGGTAAAGGAGATAGAAAAATGAGAAAAATTTCCTATGTGCTCCCACTCACCAAGACCACAGTGGGACATGCTGCTCCTTGCCAGCTTCCGTCCTGCCCTCTTCTTGCCTTAAAGCAAGGGAGATGCTTAAGGTTGGCTGGTTGCTGGGAAAACGAGGCAGTTCTTTGTCCTTTGGTCAGTTTAAACTTCATGCTGTAAAGACAGTTGATTTTTAAAACTCACAGTTTTATTTTACATTTATAAAATACTTTCGTCAGTTCAAATTTAGTGATTGAGCAGTAAAAGTGTAAATTCATATTAGTCGTCTTAGATATTTTTGAACAGTAATTACTGCAAAAATGATTATATAGTACTCAGGTTTTTTTTTAAACTTTGGCTTTTGTATATTTTTCTTGTATTATTAATGTTGATGTCTAAGTTTACCATATTGTATTGAGCTATTACTGTATATAATATTTGTATAAACATGATTTAACTCATGGCACATCCAAATGTGTGAAATAAAGCAAATTATAGCTGGTTCTTTTCCTGTCTTTTCCTATTGAAATGGGAATCCTTTAAGGTGTAAAGGAAGCTGCTTGAAACTTTTACAGTGATACCTCAAATAAACTGATGATTTTTAAAAAT
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GGCTGTGTGAGAATGCATTTCATCTTTATTCTTTCTGAGATCTTGTTCCCTACTCTCTCCTTTATTCTTTCTTTATCCCTCTTGTTTTCCTTTCTGTAGGGGCTGTTTGTCTTACATATTTTCTAAGTATTCTGAATGTATTGCTTTCTTTATCTAAATATATTCATTCTGTCCAGAGTTAAACGCAGTGATTCTCATCCTTTTTGAAGGTTTTGGTTTGATTTCATGCTTTCTCTCTTCTCTCAGCACTAGTGGGTGGGTGTGTACGTGTATGATTGTTAAAAGTAAATGAATTTAAGTTAATCTGGGGACAGCCCAGAGATGCTCTGTAGCATCACATAACCAGGGCTAAGACCAACCTCTCCTCCACCTTGTAAAGTCAATCCAGCAGCAGTTATTAGTATAATGAGTTATAAGCCAGTAAGAGCCTATTCATGTTCAGGCTTGGATTTGAAAGTTGAAACATTATTTACAGATTGAGTTCTGTGATTTGTTCCCAATTTAAATTTAAAACGATAGTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCGTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAACGATAGTTGGAATGTAAGTTATAACAAACTCCTGAATTGGCAGTTTTGTTTTATTGAAATGCAGTTGAGTGTTTTTTTCACGTGCCTATATTTGAAGAGTCTACAGCTGCCTGCTGTCTTGTGGCTAAATATAATGTCATATAAATGGAACATTTTCCCCTACTTGTGGCTTACTCACCATACTACTTTCCACATTTTTGTTGCTCAGTTTCTAAGATGATTGGCAATTATACTTTTTTAAAAATCTGTGGTACAAAAAGTGTAAAATGTAAAAATGTTTCTTGCTATACTCCTCATGAAGTCTCCCTTGCATTTGCGAATGTGGGTGAAGTGCCCATGCTTTGGGGTCGTCCACTTAGGACTGTGGCAATATTTTAGAGAACTGTTTCTTTCCTGATGCTTTGGAGCACTGTGAAGTCAGTGGAGGAAGAAGCATTAGTCAGAAAATTGAAGAAAATTAAGGAAAAGTAGATGTTCATAATGAGAAAAAAAAAACACCCTTGTATTAGGGATTTATTCCAAAAAGTAGTTTTGAGACCTAAGTGTATCTGTCTGTGTACCAAATTGCACTGCGTACAGTGTTTTGGGATGCGGAATGAGGCTTCTGAAACACTGGAAACCCCTCTCCCTTCAAGGGGTTAGCATTCAGGTTGGCATGCCATTTAGCGGAAGAGTGAACTTCATAGGTGGGGAGGCAAGATTTTCATCAGTTCTGATGCTGGTACTTAATCATGTTGACTTTACCATAGAATGTAGAACTTTCCATTTCCCAAGCATTTGAGTCATTAAGGTTTTTCTCTGAATTACAGAAGTGAACAACATGGACAGTTCACCCTAAAAGGGTTATTGGTGGTTGACATTGGTACAGCAAGGGCAGAGCTGGGAAAAGTTAACCAAGCACACATTTGCTTATGTTGGTGCCTTCCAACTCTTGGAAAAAAAAAAAAAAATGCTGGGTTAAACCATATGAAATTGCCAATATTCGATTATCTTTGATCTAAAATAAATGGAAATTTCATGTGGCCCCAATTAATAGGTTAGTGGTTTGGGTTTTAAATGTACACATTCAAATATAAGATAATTATGCTACTTTTTTAGATCAGGCTAAATGAAGATACAATCCAAGATGTTGTTCAGGCAGCTGACCTGCTGCTACTGACGGACCTTAAAACCCTGTGCTGTGAGTTTTTGGAAGGCTGCATTGCTGCTGAGAACTGTATTGGTATCCATGACTTTGCACTACATTACTGCCTCCATCACGTTCATTACCTTGCCACAGAATACCTGGAGACTCATTTCCGAGACGTCAGCAGCACGGAAGAATTCTTAGAGCTGAGTCCTCAAAAGCTTAAAGAAGTGATTTCTCTTGAGAAGTTAAACGTTGGCAATGAAAGATATGTCTTTGAAGCAGTAATTCGATGGATAGCACATGATACAGAAATAAGAAAGGTACCTGTCATTTATAACATGGTCAAATTTGCCTTTTTATTTCTTTTTAATTCAAATTTTAGTTGTTTTATTTTTCTTCTTCATCATGAAAGACTTACGATGCAGCAATCTAAAAGATACCTGTAAAACATGTTCCCCTATATCATGAAAGCAGTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCAGGCAGGCTCTGGAGTTTGTGTGGCAGTGCAGTTTCAAGAGGGAAGGTTCTGGGAGTGAAGGTCTTAAAGAATATCAGCCTCTAGATCCAAATTGTGAATACCTTGGAGGAAGGAGCAAAATCACAGGACTTGAGGGTTTTGAGGGGGCAGAGAGTCTCAGTCTGTCTCCCAGGCTGAAGGGCAGTAGCCAGAGTGGCACGATCATAGCTCACTGCAGTCCCAACCTTCCTGGCTGAAGTGATCTTCCCACCTCAGCCTCCGAGTAGCTAGGACCACAGGCGTGTGCCACCATGCCTAGCTAATTGTTTGATTTTTGTAGAGACAGGGTCTCGCTGTGCTGCCCAGGCTGGTCTCAAACTCCTGTGCTCAAGCAATCCTCCCACTCTAGCTTCCCAAAGTGCTGGGATTACAAGTGTGAACCACCATGCCCAGCCAGGACTTCATTTTTAAGTCTGATTATTATAAATAAGACACTAGCTCCAATTACTGTTTTCAAAATAAGAAATATATTAGGTGTTAGAGAGTGGATCTCACAATGTATAATTTTACTGTTAATTGTTCTTGTAAGTTAAAACTGGACTGTTAAATTTTGATGATTATCTTATAATTTTTTGAATTCTGTAAGCCCATAAGTATGCATGTTTAGAAACCATATTTGTAGTATTGGTTTTAATTGGGACAGGTAAGGACAGGTAGTGTTCTGCTTTCCATGTTAGTTGGGGAAATTGGTAAAGGAGATAGAAAAATGAGAAAAATTTCCTATGTGCTCCCACTCACCAAGACCACAGTGGGACATGCTGCTCCTTGCCAGCTTCCGTCCTGCCCTCTTCTTGCCTTAAAGCAAGGGAGATGCTTAAGGTTGGCTGGTTGCTGGGAAAACGAGGCAGTTCTTTGTCCTTTGGTCAGTTTAAACTTCATGCTGTAAAGACAGTTGATTTTTAAAACTCACAGTTTTATTTTACATTTATAAAATACTTTCGTCAGTTCAAATTTAGTGATTGAGCAGTAAAAGTGTAAATTCATATTAGTCGTCTTAGATATTTTTGAACAGTAATTACTGCAAAAATGATTATATAGTACTCAGGTTTTTTTTTAAACTTTGGCTTTTGTATATTTTTCTTGTATTATTAATGTTGATGTCTAAGTTTACCATATTGTATTGAGCTATTACTGTATATAATATTTGTATAAACATGATTTAACTCATGGCACATCCAAATGTGTGAAATAAAGCAAATTATAGCTGGTTCTTTTCCTGTCTTTTCCTATTGAAATGGGAATCCTTTAAGGTGTAAAGGAAGCTGCTTGAAACTTTTACAGTGATACCTCAAATAAACTGATGATTTTTAAAAAT
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Task1_train_22957
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Mutation context: Chromosome 16, Gene GAN (gigaxonin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Giant axonal neuropathy 1
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TCTGTAGGGGCTGTTTGTCTTACATATTTTCTAAGTATTCTGAATGTATTGCTTTCTTTATCTAAATATATTCATTCTGTCCAGAGTTAAACGCAGTGATTCTCATCCTTTTTGAAGGTTTTGGTTTGATTTCATGCTTTCTCTCTTCTCTCAGCACTAGTGGGTGGGTGTGTACGTGTATGATTGTTAAAAGTAAATGAATTTAAGTTAATCTGGGGACAGCCCAGAGATGCTCTGTAGCATCACATAACCAGGGCTAAGACCAACCTCTCCTCCACCTTGTAAAGTCAATCCAGCAGCAGTTATTAGTATAATGAGTTATAAGCCAGTAAGAGCCTATTCATGTTCAGGCTTGGATTTGAAAGTTGAAACATTATTTACAGATTGAGTTCTGTGATTTGTTCCCAATTTAAATTTAAAACGATAGTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCGTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAACGATAGTTGGAATGTAAGTTATAACAAACTCCTGAATTGGCAGTTTTGTTTTATTGAAATGCAGTTGAGTGTTTTTTTCACGTGCCTATATTTGAAGAGTCTACAGCTGCCTGCTGTCTTGTGGCTAAATATAATGTCATATAAATGGAACATTTTCCCCTACTTGTGGCTTACTCACCATACTACTTTCCACATTTTTGTTGCTCAGTTTCTAAGATGATTGGCAATTATACTTTTTTAAAAATCTGTGGTACAAAAAGTGTAAAATGTAAAAATGTTTCTTGCTATACTCCTCATGAAGTCTCCCTTGCATTTGCGAATGTGGGTGAAGTGCCCATGCTTTGGGGTCGTCCACTTAGGACTGTGGCAATATTTTAGAGAACTGTTTCTTTCCTGATGCTTTGGAGCACTGTGAAGTCAGTGGAGGAAGAAGCATTAGTCAGAAAATTGAAGAAAATTAAGGAAAAGTAGATGTTCATAATGAGAAAAAAAAAACACCCTTGTATTAGGGATTTATTCCAAAAAGTAGTTTTGAGACCTAAGTGTATCTGTCTGTGTACCAAATTGCACTGCGTACAGTGTTTTGGGATGCGGAATGAGGCTTCTGAAACACTGGAAACCCCTCTCCCTTCAAGGGGTTAGCATTCAGGTTGGCATGCCATTTAGCGGAAGAGTGAACTTCATAGGTGGGGAGGCAAGATTTTCATCAGTTCTGATGCTGGTACTTAATCATGTTGACTTTACCATAGAATGTAGAACTTTCCATTTCCCAAGCATTTGAGTCATTAAGGTTTTTCTCTGAATTACAGAAGTGAACAACATGGACAGTTCACCCTAAAAGGGTTATTGGTGGTTGACATTGGTACAGCAAGGGCAGAGCTGGGAAAAGTTAACCAAGCACACATTTGCTTATGTTGGTGCCTTCCAACTCTTGGAAAAAAAAAAAAAAATGCTGGGTTAAACCATATGAAATTGCCAATATTCGATTATCTTTGATCTAAAATAAATGGAAATTTCATGTGGCCCCAATTAATAGGTTAGTGGTTTGGGTTTTAAATGTACACATTCAAATATAAGATAATTATGCTACTTTTTTAGATCAGGCTAAATGAAGATACAATCCAAGATGTTGTTCAGGCAGCTGACCTGCTGCTACTGACGGACCTTAAAACCCTGTGCTGTGAGTTTTTGGAAGGCTGCATTGCTGCTGAGAACTGTATTGGTATCCGTGACTTTGCACTACATTACTGCCTCCATCACGTTCATTACCTTGCCACAGAATACCTGGAGACTCATTTCCGAGACGTCAGCAGCACGGAAGAATTCTTAGAGCTGAGTCCTCAAAAGCTTAAAGAAGTGATTTCTCTTGAGAAGTTAAACGTTGGCAATGAAAGATATGTCTTTGAAGCAGTAATTCGATGGATAGCACATGATACAGAAATAAGAAAGGTACCTGTCATTTATAACATGGTCAAATTTGCCTTTTTATTTCTTTTTAATTCAAATTTTAGTTGTTTTATTTTTCTTCTTCATCATGAAAGACTTACGATGCAGCAATCTAAAAGATACCTGTAAAACATGTTCCCCTATATCATGAAAGCAGTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCAGGCAGGCTCTGGAGTTTGTGTGGCAGTGCAGTTTCAAGAGGGAAGGTTCTGGGAGTGAAGGTCTTAAAGAATATCAGCCTCTAGATCCAAATTGTGAATACCTTGGAGGAAGGAGCAAAATCACAGGACTTGAGGGTTTTGAGGGGGCAGAGAGTCTCAGTCTGTCTCCCAGGCTGAAGGGCAGTAGCCAGAGTGGCACGATCATAGCTCACTGCAGTCCCAACCTTCCTGGCTGAAGTGATCTTCCCACCTCAGCCTCCGAGTAGCTAGGACCACAGGCGTGTGCCACCATGCCTAGCTAATTGTTTGATTTTTGTAGAGACAGGGTCTCGCTGTGCTGCCCAGGCTGGTCTCAAACTCCTGTGCTCAAGCAATCCTCCCACTCTAGCTTCCCAAAGTGCTGGGATTACAAGTGTGAACCACCATGCCCAGCCAGGACTTCATTTTTAAGTCTGATTATTATAAATAAGACACTAGCTCCAATTACTGTTTTCAAAATAAGAAATATATTAGGTGTTAGAGAGTGGATCTCACAATGTATAATTTTACTGTTAATTGTTCTTGTAAGTTAAAACTGGACTGTTAAATTTTGATGATTATCTTATAATTTTTTGAATTCTGTAAGCCCATAAGTATGCATGTTTAGAAACCATATTTGTAGTATTGGTTTTAATTGGGACAGGTAAGGACAGGTAGTGTTCTGCTTTCCATGTTAGTTGGGGAAATTGGTAAAGGAGATAGAAAAATGAGAAAAATTTCCTATGTGCTCCCACTCACCAAGACCACAGTGGGACATGCTGCTCCTTGCCAGCTTCCGTCCTGCCCTCTTCTTGCCTTAAAGCAAGGGAGATGCTTAAGGTTGGCTGGTTGCTGGGAAAACGAGGCAGTTCTTTGTCCTTTGGTCAGTTTAAACTTCATGCTGTAAAGACAGTTGATTTTTAAAACTCACAGTTTTATTTTACATTTATAAAATACTTTCGTCAGTTCAAATTTAGTGATTGAGCAGTAAAAGTGTAAATTCATATTAGTCGTCTTAGATATTTTTGAACAGTAATTACTGCAAAAATGATTATATAGTACTCAGGTTTTTTTTTAAACTTTGGCTTTTGTATATTTTTCTTGTATTATTAATGTTGATGTCTAAGTTTACCATATTGTATTGAGCTATTACTGTATATAATATTTGTATAAACATGATTTAACTCATGGCACATCCAAATGTGTGAAATAAAGCAAATTATAGCTGGTTCTTTTCCTGTCTTTTCCTATTGAAATGGGAATCCTTTAAGGTGTAAAGGAAGCTGCTTGAAACTTTTACAGTGATACCTCAAATAAACTGATGATTTTTAAAAATTAAACTTTTACTTATCAAGACTCTGGGAAGTAGACAGTTAGGGCCAGGAGAAGATATTCAAGCAGCACGAGTGTGTCTCACTTGCCTGGTAA
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TCTGTAGGGGCTGTTTGTCTTACATATTTTCTAAGTATTCTGAATGTATTGCTTTCTTTATCTAAATATATTCATTCTGTCCAGAGTTAAACGCAGTGATTCTCATCCTTTTTGAAGGTTTTGGTTTGATTTCATGCTTTCTCTCTTCTCTCAGCACTAGTGGGTGGGTGTGTACGTGTATGATTGTTAAAAGTAAATGAATTTAAGTTAATCTGGGGACAGCCCAGAGATGCTCTGTAGCATCACATAACCAGGGCTAAGACCAACCTCTCCTCCACCTTGTAAAGTCAATCCAGCAGCAGTTATTAGTATAATGAGTTATAAGCCAGTAAGAGCCTATTCATGTTCAGGCTTGGATTTGAAAGTTGAAACATTATTTACAGATTGAGTTCTGTGATTTGTTCCCAATTTAAATTTAAAACGATAGTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCGTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAACGATAGTTGGAATGTAAGTTATAACAAACTCCTGAATTGGCAGTTTTGTTTTATTGAAATGCAGTTGAGTGTTTTTTTCACGTGCCTATATTTGAAGAGTCTACAGCTGCCTGCTGTCTTGTGGCTAAATATAATGTCATATAAATGGAACATTTTCCCCTACTTGTGGCTTACTCACCATACTACTTTCCACATTTTTGTTGCTCAGTTTCTAAGATGATTGGCAATTATACTTTTTTAAAAATCTGTGGTACAAAAAGTGTAAAATGTAAAAATGTTTCTTGCTATACTCCTCATGAAGTCTCCCTTGCATTTGCGAATGTGGGTGAAGTGCCCATGCTTTGGGGTCGTCCACTTAGGACTGTGGCAATATTTTAGAGAACTGTTTCTTTCCTGATGCTTTGGAGCACTGTGAAGTCAGTGGAGGAAGAAGCATTAGTCAGAAAATTGAAGAAAATTAAGGAAAAGTAGATGTTCATAATGAGAAAAAAAAAACACCCTTGTATTAGGGATTTATTCCAAAAAGTAGTTTTGAGACCTAAGTGTATCTGTCTGTGTACCAAATTGCACTGCGTACAGTGTTTTGGGATGCGGAATGAGGCTTCTGAAACACTGGAAACCCCTCTCCCTTCAAGGGGTTAGCATTCAGGTTGGCATGCCATTTAGCGGAAGAGTGAACTTCATAGGTGGGGAGGCAAGATTTTCATCAGTTCTGATGCTGGTACTTAATCATGTTGACTTTACCATAGAATGTAGAACTTTCCATTTCCCAAGCATTTGAGTCATTAAGGTTTTTCTCTGAATTACAGAAGTGAACAACATGGACAGTTCACCCTAAAAGGGTTATTGGTGGTTGACATTGGTACAGCAAGGGCAGAGCTGGGAAAAGTTAACCAAGCACACATTTGCTTATGTTGGTGCCTTCCAACTCTTGGAAAAAAAAAAAAAAATGCTGGGTTAAACCATATGAAATTGCCAATATTCGATTATCTTTGATCTAAAATAAATGGAAATTTCATGTGGCCCCAATTAATAGGTTAGTGGTTTGGGTTTTAAATGTACACATTCAAATATAAGATAATTATGCTACTTTTTTAGATCAGGCTAAATGAAGATACAATCCAAGATGTTGTTCAGGCAGCTGACCTGCTGCTACTGACGGACCTTAAAACCCTGTGCTGTGAGTTTTTGGAAGGCTGCATTGCTGCTGAGAACTGTATTGGTATCCGTGACTTTGCACTACATTACTGCCTCCATCACGTTCATTACCTTGCCACAGAATACCTGGAGACTCATTTCCGAGACGTCAGCAGCACGGAAAAATTCTTAGAGCTGAGTCCTCAAAAGCTTAAAGAAGTGATTTCTCTTGAGAAGTTAAACGTTGGCAATGAAAGATATGTCTTTGAAGCAGTAATTCGATGGATAGCACATGATACAGAAATAAGAAAGGTACCTGTCATTTATAACATGGTCAAATTTGCCTTTTTATTTCTTTTTAATTCAAATTTTAGTTGTTTTATTTTTCTTCTTCATCATGAAAGACTTACGATGCAGCAATCTAAAAGATACCTGTAAAACATGTTCCCCTATATCATGAAAGCAGTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCAGGCAGGCTCTGGAGTTTGTGTGGCAGTGCAGTTTCAAGAGGGAAGGTTCTGGGAGTGAAGGTCTTAAAGAATATCAGCCTCTAGATCCAAATTGTGAATACCTTGGAGGAAGGAGCAAAATCACAGGACTTGAGGGTTTTGAGGGGGCAGAGAGTCTCAGTCTGTCTCCCAGGCTGAAGGGCAGTAGCCAGAGTGGCACGATCATAGCTCACTGCAGTCCCAACCTTCCTGGCTGAAGTGATCTTCCCACCTCAGCCTCCGAGTAGCTAGGACCACAGGCGTGTGCCACCATGCCTAGCTAATTGTTTGATTTTTGTAGAGACAGGGTCTCGCTGTGCTGCCCAGGCTGGTCTCAAACTCCTGTGCTCAAGCAATCCTCCCACTCTAGCTTCCCAAAGTGCTGGGATTACAAGTGTGAACCACCATGCCCAGCCAGGACTTCATTTTTAAGTCTGATTATTATAAATAAGACACTAGCTCCAATTACTGTTTTCAAAATAAGAAATATATTAGGTGTTAGAGAGTGGATCTCACAATGTATAATTTTACTGTTAATTGTTCTTGTAAGTTAAAACTGGACTGTTAAATTTTGATGATTATCTTATAATTTTTTGAATTCTGTAAGCCCATAAGTATGCATGTTTAGAAACCATATTTGTAGTATTGGTTTTAATTGGGACAGGTAAGGACAGGTAGTGTTCTGCTTTCCATGTTAGTTGGGGAAATTGGTAAAGGAGATAGAAAAATGAGAAAAATTTCCTATGTGCTCCCACTCACCAAGACCACAGTGGGACATGCTGCTCCTTGCCAGCTTCCGTCCTGCCCTCTTCTTGCCTTAAAGCAAGGGAGATGCTTAAGGTTGGCTGGTTGCTGGGAAAACGAGGCAGTTCTTTGTCCTTTGGTCAGTTTAAACTTCATGCTGTAAAGACAGTTGATTTTTAAAACTCACAGTTTTATTTTACATTTATAAAATACTTTCGTCAGTTCAAATTTAGTGATTGAGCAGTAAAAGTGTAAATTCATATTAGTCGTCTTAGATATTTTTGAACAGTAATTACTGCAAAAATGATTATATAGTACTCAGGTTTTTTTTTAAACTTTGGCTTTTGTATATTTTTCTTGTATTATTAATGTTGATGTCTAAGTTTACCATATTGTATTGAGCTATTACTGTATATAATATTTGTATAAACATGATTTAACTCATGGCACATCCAAATGTGTGAAATAAAGCAAATTATAGCTGGTTCTTTTCCTGTCTTTTCCTATTGAAATGGGAATCCTTTAAGGTGTAAAGGAAGCTGCTTGAAACTTTTACAGTGATACCTCAAATAAACTGATGATTTTTAAAAATTAAACTTTTACTTATCAAGACTCTGGGAAGTAGACAGTTAGGGCCAGGAGAAGATATTCAAGCAGCACGAGTGTGTCTCACTTGCCTGGTAA
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Task1_train_22958
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This sequence variant lies in GAN (gigaxonin) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Giant axonal neuropathy 1
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GTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCAGGCAGGCTCTGGAGTTTGTGTGGCAGTGCAGTTTCAAGAGGGAAGGTTCTGGGAGTGAAGGTCTTAAAGAATATCAGCCTCTAGATCCAAATTGTGAATACCTTGGAGGAAGGAGCAAAATCACAGGACTTGAGGGTTTTGAGGGGGCAGAGAGTCTCAGTCTGTCTCCCAGGCTGAAGGGCAGTAGCCAGAGTGGCACGATCATAGCTCACTGCAGTCCCAACCTTCCTGGCTGAAGTGATCTTCCCACCTCAGCCTCCGAGTAGCTAGGACCACAGGCGTGTGCCACCATGCCTAGCTAATTGTTTGATTTTTGTAGAGACAGGGTCTCGCTGTGCTGCCCAGGCTGGTCTCAAACTCCTGTGCTCAAGCAATCCTCCCACTCTAGCTTCCCAAAGTGCTGGGATTACAAGTGTGAACCACCATGCCCAGCCAGGACTTCATTTTTAAGTCTGATTATTATAAATAAGACACTAGCTCCAATTACTGTTTTCAAAATAAGAAATATATTAGGTGTTAGAGAGTGGATCTCACAATGTATAATTTTACTGTTAATTGTTCTTGTAAGTTAAAACTGGACTGTTAAATTTTGATGATTATCTTATAATTTTTTGAATTCTGTAAGCCCATAAGTATGCATGTTTAGAAACCATATTTGTAGTATTGGTTTTAATTGGGACAGGTAAGGACAGGTAGTGTTCTGCTTTCCATGTTAGTTGGGGAAATTGGTAAAGGAGATAGAAAAATGAGAAAAATTTCCTATGTGCTCCCACTCACCAAGACCACAGTGGGACATGCTGCTCCTTGCCAGCTTCCGTCCTGCCCTCTTCTTGCCTTAAAGCAAGGGAGATGCTTAAGGTTGGCTGGTTGCTGGGAAAACGAGGCAGTTCTTTGTCCTTTGGTCAGTTTAAACTTCATGCTGTAAAGACAGTTGATTTTTAAAACTCACAGTTTTATTTTACATTTATAAAATACTTTCGTCAGTTCAAATTTAGTGATTGAGCAGTAAAAGTGTAAATTCATATTAGTCGTCTTAGATATTTTTGAACAGTAATTACTGCAAAAATGATTATATAGTACTCAGGTTTTTTTTTAAACTTTGGCTTTTGTATATTTTTCTTGTATTATTAATGTTGATGTCTAAGTTTACCATATTGTATTGAGCTATTACTGTATATAATATTTGTATAAACATGATTTAACTCATGGCACATCCAAATGTGTGAAATAAAGCAAATTATAGCTGGTTCTTTTCCTGTCTTTTCCTATTGAAATGGGAATCCTTTAAGGTGTAAAGGAAGCTGCTTGAAACTTTTACAGTGATACCTCAAATAAACTGATGATTTTTAAAAATTAAACTTTTACTTATCAAGACTCTGGGAAGTAGACAGTTAGGGCCAGGAGAAGATATTCAAGCAGCACGAGTGTGTCTCACTTGCCTGGTAATAACCTGAGTGTTAACAGTTTGTTTTCCATGAGGTGGAAAATGTAGATTCTAAAAATGATGTGTTGCATTTTCCATTGTTTTCGCCCCATCTTTCTTCCCTCTTCTGCAGGTCCACATGAAGGATGTTATGTCAGCTCTGTGGGTTTCAGGGTTGGACTCCAGTTATTTACGGGAACAGATGCTGAATGAACCATTAGTACGAGAAATTGTCAAAGAGTGTAGCAATATACCGCTCAGCCAGCCGCAGCAAGGGGAGGCGATGCTGGCCAACTTCAAACCCCGGGGCTACTCTGAGTGCATCGTGACTGTTGGTGGAGAAGAGAGAGTGTAAGTATGAGGTGGGACTTGTTTGAAAAGTGGTGTATGGGAAGAGGTAGTTCCATGTAAACAAGAATTCATAATGCTTTTCAGTATCTAAAACATAATTACATTTGATTTTTTTTTTTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCATCATTTAGCATTAGATATATTTCCTAAAGCTATCCCTCCCCTCTCCCTCCACCCCGCAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCTACATTTTCTTAATCCAGTCTATCAATGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGCATTCCTAGTTCTAGATCCCTGAGGAATCGTCACACTGACTTCCACAAGGGTTTTTAAAAAATGTTTTAAATATTCTTTAGTAAACTAAAACTAGTGATGGCTACTTATAAAAAGAACTGTATGAAGCACATTAACTACTGATCACTTATTTACTTCCTTAGTTCACGGAAACCCACAGCAGCGATGCGATGCATGTGCCCTCTCTATGACCCTAACAGGCAGCTTTGGATCGAACTGGCCCCTTTAAGCATGCCGAGAATTAACCATGGAGTTCTCTCAGCAGGTACCGTTCTGTGGCAAATTTTCCTTAAACAGCAGATCAAGTAATGTGTAATCTCAAGGTTTTACAGAATGACTCAGAGCCTTTTAAAGATACAATTTTATTATCTCTACATGACATTTTTAGTGTAGTTCTAGCTTCTGAGACCGTGGTTAGGAAAACCGTATTTTCTGTCAGTCCTTATTATCTCTGTATCTTCAGCACATAGCTGCTTTTAAGAACTACTGGAGAAGCAGTTACTTGATGACTTAATGTCAGGAGAGCAAACTTCAGTGATGCTTACCACTAAGTAGCTGTAGGGCCACACCTGGAACACAGCGTTTCTTTGCACCATGGTAGTCCCATCTTTGAAATTCATGCAGCTTAGAATTACAATATGTAATTATATAAAATATGTTATATAAGGCCGAGTGTGGTGGCTCACACCTGTAATCCCCGCAGTTTAGGAGGCTAAAGTGAGAGGAGCCTAGGAGTTCAAGACCAGCCTGGACAATGTAGGAGAGAAACTGTCTTTACTAAAAATCAAAAAAATTAGCCAGGCATAGTGGCATGCACTTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCTCTTGAGCCCAGGAGATCGAGACTGCTGTGAGCCAAGATCACACCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAAAAAAAAGAGAAGTTATGAGACTTTAGGAAATGCTACTTATATAGGCAATGGCTTAAAGTTATTTAGTATGGAAAATGCTTTACTTGACCTTTACAAGTTTGAAAACTGCTCTACTTTATCCAAAGCTCTCCCTTAAGGAGCTGATAGAAAAGATAGCCATTGAGGCATTGCCTTTGCTGGCTGCCTGTCTTTTCGCCGTGGTCCTGCTCCCTTGTCCACCTGATAAGTGTCATCTCATGTCATCCTAATTGTGGTCAGCAGCCCTCCTGCAGTCCTTATTTAATTGTGTTTGCTTGCCCAGCAACATTATCTTTAAAATTTTATTTTTTATTTTATTTTTCTTTTTAGAGATGGGATCTTGCAATGTTGCCCAGGCTATAAT
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GTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCAGGCAGGCTCTGGAGTTTGTGTGGCAGTGCAGTTTCAAGAGGGAAGGTTCTGGGAGTGAAGGTCTTAAAGAATATCAGCCTCTAGATCCAAATTGTGAATACCTTGGAGGAAGGAGCAAAATCACAGGACTTGAGGGTTTTGAGGGGGCAGAGAGTCTCAGTCTGTCTCCCAGGCTGAAGGGCAGTAGCCAGAGTGGCACGATCATAGCTCACTGCAGTCCCAACCTTCCTGGCTGAAGTGATCTTCCCACCTCAGCCTCCGAGTAGCTAGGACCACAGGCGTGTGCCACCATGCCTAGCTAATTGTTTGATTTTTGTAGAGACAGGGTCTCGCTGTGCTGCCCAGGCTGGTCTCAAACTCCTGTGCTCAAGCAATCCTCCCACTCTAGCTTCCCAAAGTGCTGGGATTACAAGTGTGAACCACCATGCCCAGCCAGGACTTCATTTTTAAGTCTGATTATTATAAATAAGACACTAGCTCCAATTACTGTTTTCAAAATAAGAAATATATTAGGTGTTAGAGAGTGGATCTCACAATGTATAATTTTACTGTTAATTGTTCTTGTAAGTTAAAACTGGACTGTTAAATTTTGATGATTATCTTATAATTTTTTGAATTCTGTAAGCCCATAAGTATGCATGTTTAGAAACCATATTTGTAGTATTGGTTTTAATTGGGACAGGTAAGGACAGGTAGTGTTCTGCTTTCCATGTTAGTTGGGGAAATTGGTAAAGGAGATAGAAAAATGAGAAAAATTTCCTATGTGCTCCCACTCACCAAGACCACAGTGGGACATGCTGCTCCTTGCCAGCTTCCGTCCTGCCCTCTTCTTGCCTTAAAGCAAGGGAGATGCTTAAGGTTGGCTGGTTGCTGGGAAAACGAGGCAGTTCTTTGTCCTTTGGTCAGTTTAAACTTCATGCTGTAAAGACAGTTGATTTTTAAAACTCACAGTTTTATTTTACATTTATAAAATACTTTCGTCAGTTCAAATTTAGTGATTGAGCAGTAAAAGTGTAAATTCATATTAGTCGTCTTAGATATTTTTGAACAGTAATTACTGCAAAAATGATTATATAGTACTCAGGTTTTTTTTTAAACTTTGGCTTTTGTATATTTTTCTTGTATTATTAATGTTGATGTCTAAGTTTACCATATTGTATTGAGCTATTACTGTATATAATATTTGTATAAACATGATTTAACTCATGGCACATCCAAATGTGTGAAATAAAGCAAATTATAGCTGGTTCTTTTCCTGTCTTTTCCTATTGAAATGGGAATCCTTTAAGGTGTAAAGGAAGCTGCTTGAAACTTTTACAGTGATACCTCAAATAAACTGATGATTTTTAAAAATTAAACTTTTACTTATCAAGACTCTGGGAAGTAGACAGTTAGGGCCAGGAGAAGATATTCAAGCAGCACGAGTGTGTCTCACTTGCCTGGTAATAACCTGAGTGTTAACAGTTTGTTTTCCATGAGGTGGAAAATGTAGATTCTAAAAATGATGTGTTGCATTTTCCATTGTTTTCGCCCCATCTTTCTTCCCTCTTCTGCAGGTCCACATGAAGGATGTTATGTCAGCTCTGTGGGTTTCAGGGTTGGACTCCAGTTATTTACGGGAACAGATGCTGAATGAACCATTAGTACGAGAAATTGTCAAAGAGTGTAGCAATATACCGCTCAGCCAGCCGCAGCAAGGGGAGGCGATGCTGGCCAACTTCAAACCCCAGGGCTACTCTGAGTGCATCGTGACTGTTGGTGGAGAAGAGAGAGTGTAAGTATGAGGTGGGACTTGTTTGAAAAGTGGTGTATGGGAAGAGGTAGTTCCATGTAAACAAGAATTCATAATGCTTTTCAGTATCTAAAACATAATTACATTTGATTTTTTTTTTTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCATCATTTAGCATTAGATATATTTCCTAAAGCTATCCCTCCCCTCTCCCTCCACCCCGCAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCTACATTTTCTTAATCCAGTCTATCAATGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGCATTCCTAGTTCTAGATCCCTGAGGAATCGTCACACTGACTTCCACAAGGGTTTTTAAAAAATGTTTTAAATATTCTTTAGTAAACTAAAACTAGTGATGGCTACTTATAAAAAGAACTGTATGAAGCACATTAACTACTGATCACTTATTTACTTCCTTAGTTCACGGAAACCCACAGCAGCGATGCGATGCATGTGCCCTCTCTATGACCCTAACAGGCAGCTTTGGATCGAACTGGCCCCTTTAAGCATGCCGAGAATTAACCATGGAGTTCTCTCAGCAGGTACCGTTCTGTGGCAAATTTTCCTTAAACAGCAGATCAAGTAATGTGTAATCTCAAGGTTTTACAGAATGACTCAGAGCCTTTTAAAGATACAATTTTATTATCTCTACATGACATTTTTAGTGTAGTTCTAGCTTCTGAGACCGTGGTTAGGAAAACCGTATTTTCTGTCAGTCCTTATTATCTCTGTATCTTCAGCACATAGCTGCTTTTAAGAACTACTGGAGAAGCAGTTACTTGATGACTTAATGTCAGGAGAGCAAACTTCAGTGATGCTTACCACTAAGTAGCTGTAGGGCCACACCTGGAACACAGCGTTTCTTTGCACCATGGTAGTCCCATCTTTGAAATTCATGCAGCTTAGAATTACAATATGTAATTATATAAAATATGTTATATAAGGCCGAGTGTGGTGGCTCACACCTGTAATCCCCGCAGTTTAGGAGGCTAAAGTGAGAGGAGCCTAGGAGTTCAAGACCAGCCTGGACAATGTAGGAGAGAAACTGTCTTTACTAAAAATCAAAAAAATTAGCCAGGCATAGTGGCATGCACTTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCTCTTGAGCCCAGGAGATCGAGACTGCTGTGAGCCAAGATCACACCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAAAAAAAAGAGAAGTTATGAGACTTTAGGAAATGCTACTTATATAGGCAATGGCTTAAAGTTATTTAGTATGGAAAATGCTTTACTTGACCTTTACAAGTTTGAAAACTGCTCTACTTTATCCAAAGCTCTCCCTTAAGGAGCTGATAGAAAAGATAGCCATTGAGGCATTGCCTTTGCTGGCTGCCTGTCTTTTCGCCGTGGTCCTGCTCCCTTGTCCACCTGATAAGTGTCATCTCATGTCATCCTAATTGTGGTCAGCAGCCCTCCTGCAGTCCTTATTTAATTGTGTTTGCTTGCCCAGCAACATTATCTTTAAAATTTTATTTTTTATTTTATTTTTCTTTTTAGAGATGGGATCTTGCAATGTTGCCCAGGCTATAAT
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Task1_train_22959
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The gene GAN (gigaxonin), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Inborn genetic diseases
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GTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCAGGCAGGCTCTGGAGTTTGTGTGGCAGTGCAGTTTCAAGAGGGAAGGTTCTGGGAGTGAAGGTCTTAAAGAATATCAGCCTCTAGATCCAAATTGTGAATACCTTGGAGGAAGGAGCAAAATCACAGGACTTGAGGGTTTTGAGGGGGCAGAGAGTCTCAGTCTGTCTCCCAGGCTGAAGGGCAGTAGCCAGAGTGGCACGATCATAGCTCACTGCAGTCCCAACCTTCCTGGCTGAAGTGATCTTCCCACCTCAGCCTCCGAGTAGCTAGGACCACAGGCGTGTGCCACCATGCCTAGCTAATTGTTTGATTTTTGTAGAGACAGGGTCTCGCTGTGCTGCCCAGGCTGGTCTCAAACTCCTGTGCTCAAGCAATCCTCCCACTCTAGCTTCCCAAAGTGCTGGGATTACAAGTGTGAACCACCATGCCCAGCCAGGACTTCATTTTTAAGTCTGATTATTATAAATAAGACACTAGCTCCAATTACTGTTTTCAAAATAAGAAATATATTAGGTGTTAGAGAGTGGATCTCACAATGTATAATTTTACTGTTAATTGTTCTTGTAAGTTAAAACTGGACTGTTAAATTTTGATGATTATCTTATAATTTTTTGAATTCTGTAAGCCCATAAGTATGCATGTTTAGAAACCATATTTGTAGTATTGGTTTTAATTGGGACAGGTAAGGACAGGTAGTGTTCTGCTTTCCATGTTAGTTGGGGAAATTGGTAAAGGAGATAGAAAAATGAGAAAAATTTCCTATGTGCTCCCACTCACCAAGACCACAGTGGGACATGCTGCTCCTTGCCAGCTTCCGTCCTGCCCTCTTCTTGCCTTAAAGCAAGGGAGATGCTTAAGGTTGGCTGGTTGCTGGGAAAACGAGGCAGTTCTTTGTCCTTTGGTCAGTTTAAACTTCATGCTGTAAAGACAGTTGATTTTTAAAACTCACAGTTTTATTTTACATTTATAAAATACTTTCGTCAGTTCAAATTTAGTGATTGAGCAGTAAAAGTGTAAATTCATATTAGTCGTCTTAGATATTTTTGAACAGTAATTACTGCAAAAATGATTATATAGTACTCAGGTTTTTTTTTAAACTTTGGCTTTTGTATATTTTTCTTGTATTATTAATGTTGATGTCTAAGTTTACCATATTGTATTGAGCTATTACTGTATATAATATTTGTATAAACATGATTTAACTCATGGCACATCCAAATGTGTGAAATAAAGCAAATTATAGCTGGTTCTTTTCCTGTCTTTTCCTATTGAAATGGGAATCCTTTAAGGTGTAAAGGAAGCTGCTTGAAACTTTTACAGTGATACCTCAAATAAACTGATGATTTTTAAAAATTAAACTTTTACTTATCAAGACTCTGGGAAGTAGACAGTTAGGGCCAGGAGAAGATATTCAAGCAGCACGAGTGTGTCTCACTTGCCTGGTAATAACCTGAGTGTTAACAGTTTGTTTTCCATGAGGTGGAAAATGTAGATTCTAAAAATGATGTGTTGCATTTTCCATTGTTTTCGCCCCATCTTTCTTCCCTCTTCTGCAGGTCCACATGAAGGATGTTATGTCAGCTCTGTGGGTTTCAGGGTTGGACTCCAGTTATTTACGGGAACAGATGCTGAATGAACCATTAGTACGAGAAATTGTCAAAGAGTGTAGCAATATACCGCTCAGCCAGCCGCAGCAAGGGGAGGCGATGCTGGCCAACTTCAAACCCCGGGGCTACTCTGAGTGCATCGTGACTGTTGGTGGAGAAGAGAGAGTGTAAGTATGAGGTGGGACTTGTTTGAAAAGTGGTGTATGGGAAGAGGTAGTTCCATGTAAACAAGAATTCATAATGCTTTTCAGTATCTAAAACATAATTACATTTGATTTTTTTTTTTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCATCATTTAGCATTAGATATATTTCCTAAAGCTATCCCTCCCCTCTCCCTCCACCCCGCAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCTACATTTTCTTAATCCAGTCTATCAATGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGCATTCCTAGTTCTAGATCCCTGAGGAATCGTCACACTGACTTCCACAAGGGTTTTTAAAAAATGTTTTAAATATTCTTTAGTAAACTAAAACTAGTGATGGCTACTTATAAAAAGAACTGTATGAAGCACATTAACTACTGATCACTTATTTACTTCCTTAGTTCACGGAAACCCACAGCAGCGATGCGATGCATGTGCCCTCTCTATGACCCTAACAGGCAGCTTTGGATCGAACTGGCCCCTTTAAGCATGCCGAGAATTAACCATGGAGTTCTCTCAGCAGGTACCGTTCTGTGGCAAATTTTCCTTAAACAGCAGATCAAGTAATGTGTAATCTCAAGGTTTTACAGAATGACTCAGAGCCTTTTAAAGATACAATTTTATTATCTCTACATGACATTTTTAGTGTAGTTCTAGCTTCTGAGACCGTGGTTAGGAAAACCGTATTTTCTGTCAGTCCTTATTATCTCTGTATCTTCAGCACATAGCTGCTTTTAAGAACTACTGGAGAAGCAGTTACTTGATGACTTAATGTCAGGAGAGCAAACTTCAGTGATGCTTACCACTAAGTAGCTGTAGGGCCACACCTGGAACACAGCGTTTCTTTGCACCATGGTAGTCCCATCTTTGAAATTCATGCAGCTTAGAATTACAATATGTAATTATATAAAATATGTTATATAAGGCCGAGTGTGGTGGCTCACACCTGTAATCCCCGCAGTTTAGGAGGCTAAAGTGAGAGGAGCCTAGGAGTTCAAGACCAGCCTGGACAATGTAGGAGAGAAACTGTCTTTACTAAAAATCAAAAAAATTAGCCAGGCATAGTGGCATGCACTTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCTCTTGAGCCCAGGAGATCGAGACTGCTGTGAGCCAAGATCACACCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAAAAAAAAGAGAAGTTATGAGACTTTAGGAAATGCTACTTATATAGGCAATGGCTTAAAGTTATTTAGTATGGAAAATGCTTTACTTGACCTTTACAAGTTTGAAAACTGCTCTACTTTATCCAAAGCTCTCCCTTAAGGAGCTGATAGAAAAGATAGCCATTGAGGCATTGCCTTTGCTGGCTGCCTGTCTTTTCGCCGTGGTCCTGCTCCCTTGTCCACCTGATAAGTGTCATCTCATGTCATCCTAATTGTGGTCAGCAGCCCTCCTGCAGTCCTTATTTAATTGTGTTTGCTTGCCCAGCAACATTATCTTTAAAATTTTATTTTTTATTTTATTTTTCTTTTTAGAGATGGGATCTTGCAATGTTGCCCAGGCTATAAT
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GTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCAGGCAGGCTCTGGAGTTTGTGTGGCAGTGCAGTTTCAAGAGGGAAGGTTCTGGGAGTGAAGGTCTTAAAGAATATCAGCCTCTAGATCCAAATTGTGAATACCTTGGAGGAAGGAGCAAAATCACAGGACTTGAGGGTTTTGAGGGGGCAGAGAGTCTCAGTCTGTCTCCCAGGCTGAAGGGCAGTAGCCAGAGTGGCACGATCATAGCTCACTGCAGTCCCAACCTTCCTGGCTGAAGTGATCTTCCCACCTCAGCCTCCGAGTAGCTAGGACCACAGGCGTGTGCCACCATGCCTAGCTAATTGTTTGATTTTTGTAGAGACAGGGTCTCGCTGTGCTGCCCAGGCTGGTCTCAAACTCCTGTGCTCAAGCAATCCTCCCACTCTAGCTTCCCAAAGTGCTGGGATTACAAGTGTGAACCACCATGCCCAGCCAGGACTTCATTTTTAAGTCTGATTATTATAAATAAGACACTAGCTCCAATTACTGTTTTCAAAATAAGAAATATATTAGGTGTTAGAGAGTGGATCTCACAATGTATAATTTTACTGTTAATTGTTCTTGTAAGTTAAAACTGGACTGTTAAATTTTGATGATTATCTTATAATTTTTTGAATTCTGTAAGCCCATAAGTATGCATGTTTAGAAACCATATTTGTAGTATTGGTTTTAATTGGGACAGGTAAGGACAGGTAGTGTTCTGCTTTCCATGTTAGTTGGGGAAATTGGTAAAGGAGATAGAAAAATGAGAAAAATTTCCTATGTGCTCCCACTCACCAAGACCACAGTGGGACATGCTGCTCCTTGCCAGCTTCCGTCCTGCCCTCTTCTTGCCTTAAAGCAAGGGAGATGCTTAAGGTTGGCTGGTTGCTGGGAAAACGAGGCAGTTCTTTGTCCTTTGGTCAGTTTAAACTTCATGCTGTAAAGACAGTTGATTTTTAAAACTCACAGTTTTATTTTACATTTATAAAATACTTTCGTCAGTTCAAATTTAGTGATTGAGCAGTAAAAGTGTAAATTCATATTAGTCGTCTTAGATATTTTTGAACAGTAATTACTGCAAAAATGATTATATAGTACTCAGGTTTTTTTTTAAACTTTGGCTTTTGTATATTTTTCTTGTATTATTAATGTTGATGTCTAAGTTTACCATATTGTATTGAGCTATTACTGTATATAATATTTGTATAAACATGATTTAACTCATGGCACATCCAAATGTGTGAAATAAAGCAAATTATAGCTGGTTCTTTTCCTGTCTTTTCCTATTGAAATGGGAATCCTTTAAGGTGTAAAGGAAGCTGCTTGAAACTTTTACAGTGATACCTCAAATAAACTGATGATTTTTAAAAATTAAACTTTTACTTATCAAGACTCTGGGAAGTAGACAGTTAGGGCCAGGAGAAGATATTCAAGCAGCACGAGTGTGTCTCACTTGCCTGGTAATAACCTGAGTGTTAACAGTTTGTTTTCCATGAGGTGGAAAATGTAGATTCTAAAAATGATGTGTTGCATTTTCCATTGTTTTCGCCCCATCTTTCTTCCCTCTTCTGCAGGTCCACATGAAGGATGTTATGTCAGCTCTGTGGGTTTCAGGGTTGGACTCCAGTTATTTACGGGAACAGATGCTGAATGAACCATTAGTACGAGAAATTGTCAAAGAGTGTAGCAATATACCGCTCAGCCAGCCGCAGCAAGGGGAGGCGATGCTGGCCAACTTCAAACCCCAGGGCTACTCTGAGTGCATCGTGACTGTTGGTGGAGAAGAGAGAGTGTAAGTATGAGGTGGGACTTGTTTGAAAAGTGGTGTATGGGAAGAGGTAGTTCCATGTAAACAAGAATTCATAATGCTTTTCAGTATCTAAAACATAATTACATTTGATTTTTTTTTTTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCATCATTTAGCATTAGATATATTTCCTAAAGCTATCCCTCCCCTCTCCCTCCACCCCGCAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCTACATTTTCTTAATCCAGTCTATCAATGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGCATTCCTAGTTCTAGATCCCTGAGGAATCGTCACACTGACTTCCACAAGGGTTTTTAAAAAATGTTTTAAATATTCTTTAGTAAACTAAAACTAGTGATGGCTACTTATAAAAAGAACTGTATGAAGCACATTAACTACTGATCACTTATTTACTTCCTTAGTTCACGGAAACCCACAGCAGCGATGCGATGCATGTGCCCTCTCTATGACCCTAACAGGCAGCTTTGGATCGAACTGGCCCCTTTAAGCATGCCGAGAATTAACCATGGAGTTCTCTCAGCAGGTACCGTTCTGTGGCAAATTTTCCTTAAACAGCAGATCAAGTAATGTGTAATCTCAAGGTTTTACAGAATGACTCAGAGCCTTTTAAAGATACAATTTTATTATCTCTACATGACATTTTTAGTGTAGTTCTAGCTTCTGAGACCGTGGTTAGGAAAACCGTATTTTCTGTCAGTCCTTATTATCTCTGTATCTTCAGCACATAGCTGCTTTTAAGAACTACTGGAGAAGCAGTTACTTGATGACTTAATGTCAGGAGAGCAAACTTCAGTGATGCTTACCACTAAGTAGCTGTAGGGCCACACCTGGAACACAGCGTTTCTTTGCACCATGGTAGTCCCATCTTTGAAATTCATGCAGCTTAGAATTACAATATGTAATTATATAAAATATGTTATATAAGGCCGAGTGTGGTGGCTCACACCTGTAATCCCCGCAGTTTAGGAGGCTAAAGTGAGAGGAGCCTAGGAGTTCAAGACCAGCCTGGACAATGTAGGAGAGAAACTGTCTTTACTAAAAATCAAAAAAATTAGCCAGGCATAGTGGCATGCACTTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCTCTTGAGCCCAGGAGATCGAGACTGCTGTGAGCCAAGATCACACCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAAAAAAAAGAGAAGTTATGAGACTTTAGGAAATGCTACTTATATAGGCAATGGCTTAAAGTTATTTAGTATGGAAAATGCTTTACTTGACCTTTACAAGTTTGAAAACTGCTCTACTTTATCCAAAGCTCTCCCTTAAGGAGCTGATAGAAAAGATAGCCATTGAGGCATTGCCTTTGCTGGCTGCCTGTCTTTTCGCCGTGGTCCTGCTCCCTTGTCCACCTGATAAGTGTCATCTCATGTCATCCTAATTGTGGTCAGCAGCCCTCCTGCAGTCCTTATTTAATTGTGTTTGCTTGCCCAGCAACATTATCTTTAAAATTTTATTTTTTATTTTATTTTTCTTTTTAGAGATGGGATCTTGCAATGTTGCCCAGGCTATAAT
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Task1_train_22960
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Gene GAN (gigaxonin) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Giant axonal neuropathy 1
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ATGAACTCACCATGTATTTCTTAAGTTTGTTTTGAGAAGTGGCTTTGGCCTCTCTGGCTGTTGTGCTGGAAGAGTGGGCTGTTAGGGAAGCCAGAAATCTTTAAGAAGCATTACCGGAGAAATGGTTTTGAACGTGGTACTTCCATGCTGGAACACTGGGAAAAAAGATTTCTCTAATTTTTAAAAATAGTTTCAACTTTTATTTTAGACTCGGGGATACATGTGCAGGTTTGTTATGTGTGTATATTGCATAATGCTGAGGTTTGCAGTAAGATTAATCCAGTCTCCCAGGTACCAAGCGTCGTACCCAATAGTTAGTGTTTCAGCCCTTGCTCCTCTCCCTGTCTCCTTGCTCTAGGAGTCCCCATTGTCTATTTTTGCCATCTTTATGTTTCTCTAATTTTTATTAAGTGTATGAATATCAGCTTTCAATATGATCATTGGCCTTGTGTGTTCAGGGATCGCTAATGTAATTTCAGGCAAGACATAACTTCGGAATTGTGGAGATAGATGGGATGCTGTACATTTTGGGAGGAGAGGATGGTGAAAAGGAGCTGATTTCCATGGAGTGTTACGATATTTATTCTAAAACCTGGACAAAGCAACCTGATTTGACCATGGTCAGAAAGGTGAGGACTGCATTTTGTGATAACTAGTCTGTGTACACATTGGATTTTAAACTTAATGTGTCTTCATATCCTGAATAAACCTTTAATATAACTGATGGTGTTAAAAGAATTAACTTTATAGAACTCTCTTTATCGGTAGTTTGCCTTCACTGTCATCAGCCACACACCAAGATAGGAAAGTGAGCGTGTGTGAGAGTTTATCCTGCTTGTGGGCCCTGTGCAGCACCGCTGTGTGTCAAGCTCCACATTTGAGTGTGCAAATGGTGCAGCAGCCACATCTTCCCAACCTATTTTCTTTCTGTCTTTCCCTCTCTTACTCTCTCTCTCTCTTTCCTTTTGTTGTTGAGAGAGGGTCTTACTCTGTTGCCCAGATTAGAGTGCGGTGGCGCCATCTTGGCTCACTGCAACCTCTTTCTGCCTCAAGCAATCCTCCCACCTCAGCCTACTGAATAGCTGGGACTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTTTTTTTAAGTAGAGATAGGGTTTCACTATGTTGCCCCGGCTGGTCTTGAACTCTTAGGCTGAAGCGATCCCCCATCTCTACAAAAAAGTTTTAAATAAAGTTAGCCGGGCACAGTGCTGTGCACCTGTAGTCCCAGCTACCCAGGAGGCTGAGGCGGAAGGATCTGTTGAGCCCAGGAGTTTGAAGCTGCAGTGAACTATGATGGCACCACTGCACTCCAGCCAAGGCAACTGAACGAGACCCTGTCTCTAATAAATAAATAAATAAAAATGAGGCTTTTGAACTTCTTTCAGTTAGTGAAATAGTATCAGTTGGAGTAAGAGCTCCTTTTCTGAAGATTAAGAATATGTGTCTTACTTTGCTCTTCTCATTTTAAAGTCCGGTGTTGTAATACTGAAAAGCACCATCGTTTTACGGTTAGAAATCAAACCCCTTCCTAAATCTCTTTAAGTATGGCCCAGACAGTTTAATATCTGTTCACCTGACCTGAATGAGAAATGTTGCCTCTCCCCCACCATTGTTCTCTGCTTTCAGATCGGCTGCTATGCAGCTATGAAAAAGAAAATCTACGCCATGGGTGGAGGCTCCTACGGAAAGCTTTTTGAGTCTGTAGAGTGTTATGATCCCAGGACCCAGCAGTGGACTGCCATATGTCCACTAAAAGAGAGGAGGTACGTGGCTGTGGGGTGGACTTTGTAGATTCCCTTGCTGTTCACTGGGTCTGGAGCCCCTTACCCTGCCTGGCTTTTGTTCTTTTCTTTCAGAGTAACCTTTTCTTTGACTTGGCATTTCCTGAGAAAGGAAGGCCCACGTAGTAATGCTGCAGAGTTAAACCAGCATAAGAGGAACGCGGGAGTGAGATCTCGCATTGTACAGCTTGTGCCTGATAACGCTGTGTGTGGCCTTTCAGGTTTGGAGCGGTGGCCTGTGGAGTTGCTATGGAGCTGTATGTGTTTGGGGGAGTCCGAAGTCGTGAGGACGCCCAGGGTAGCGAGATGGTAACTTGCAAGTCCGAGTTCTACCATGATGAGTTTAAAAGGTAACTAAGAATGGTTTCACATAGCTACTGCAACTTTTTCTTTGTGCTTTCAGTCGTATTTTAGCTTTGTTTAGTTTTGTTTTCAGTCACTTTATTAAATTATGGATTTAGGAGATAACGTCTCATGCATACTAGATATTTATTCAGTGACTTCACAAGTGCTAGTAACTTAAAATGTCTGCAAATAGAAAATATCTCTAATATGTAGATGAGATCTTGACGCTTAGTTGCTTAAAATCATTTATTGGCTCCCTATAGCTTTTAGGAAAAAGTTTAAAACTCCTTAACTTGTTGGGCATGGTGGCTCACACCTGTAGTCTCAACATTTAGGGAGGTAGAAACTGAAGATTGCTTGAGCCCAGGAGTTAGAGATTTGCCTGGGCCACATAACAAGACCCTGTTCTCCAAAGAAAAATAAATAAACTCCTTAACTTAGCATATATAGCCTTTTGTGATATGGCCTTTGCTTTTTCTGCTACTGACCCAGATACTTTATACCGAGCCACTTTCCCCTGCAAACATGTGTGGTTGTCTCAGCTCTGTTCGTATTGCTGCTACTTGCCTAAAAGCTCCCTTCCCGCTGTCCATCCAGTTAGCTTGGCCTTTTTCAAAACTGCTTAGTTATCAAAACCTAGAGAAAGCCTTCTCATGCCTCCTAGTCTGATTTTTTATCCCTTCATCTATGATTCCATGCCCTCCAGACAAGTCTCTGGGGTTGTAGCTGTTAACTGCAAGCAACTTCAGGGCAAGGTCCACCTTCGTCAGCTCTGTATCCTGGCTTCCAGCATCCTACCTGTCTGTATCAGATGCTTAGTAAAATGTTGATTAAGTGGCTGAGGCTTGATTTCTGAGATTCTTAAAACCTCTGACAAGTGCCACGTATGTCTTGTAGGGTAGATAACATCCTTCTCGATGTCTTCTCTCTTTCCTCACACATTTTATTGTTGTAACCACTGAGCAGTATTCTTATTGCAGTAATATGTTTAAATCCTAAGGGGAAATTGCTGTGCTAAACGTAATTTTATTAGAGTAGTTCAGTCGTGCTACCAGAAGAGGGTGCCATAACATAATGTTTAATTTCATGCTGTTTTAGATGAGGGCACGCAGTGAGCAGTTACAAAGATGCTGCAAATGCATGTAAATGCTGCCTAACATGTATTTTAAATTTAGGGTATTTGCATAGCCTTTTTTTTCAATTACAGGAATAGACTATCTTAGGAAAATTTATTAGAGAGCAGTTTAGAGAATACTTGCTGTGGTAGGGGCAGATTTTCAGACTTCTCTACATTTTTCCTTCCTTGATACATGACTGGGAGGGCTGATTGCCCAAGGGATGAAGTCTTTTTTTTTCTTTCTTTCTTTTTTGGAGACAGTCTCGCTCTGTCGCCCGGGCTAGAGTGCAGTGGCGTGATCTCGGCTTACTGCACCATCTGCCTCCCGGGTTCAAGCGATTCTTCCACCTCGGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCACTATGTTTTCCAGGTTGGTCTCGAACTCCTGACTTAATGATCCGCCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTATCAGGTTGTTACATATTTGTACTGGATAAGCTTTTAATATAACTATCACTTGCTTTAAGTTCATAATAATTAAACGTAAGACTGTGGTTCCTTCTTTGCTGTTTAAAAGCACTTCTCGCCAGGTGCACTGGCTCCAGGCTATAATCCCAACACTTTGGGAGGCCGACGCGGGCAGATCACTTGAGGCCAGGAGTTCAAAACCAGCCCGGCCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAAAAAAATTAGCCAGGCATAGTGGCACGTGTCTGTAGT
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ATGAACTCACCATGTATTTCTTAAGTTTGTTTTGAGAAGTGGCTTTGGCCTCTCTGGCTGTTGTGCTGGAAGAGTGGGCTGTTAGGGAAGCCAGAAATCTTTAAGAAGCATTACCGGAGAAATGGTTTTGAACGTGGTACTTCCATGCTGGAACACTGGGAAAAAAGATTTCTCTAATTTTTAAAAATAGTTTCAACTTTTATTTTAGACTCGGGGATACATGTGCAGGTTTGTTATGTGTGTATATTGCATAATGCTGAGGTTTGCAGTAAGATTAATCCAGTCTCCCAGGTACCAAGCGTCGTACCCAATAGTTAGTGTTTCAGCCCTTGCTCCTCTCCCTGTCTCCTTGCTCTAGGAGTCCCCATTGTCTATTTTTGCCATCTTTATGTTTCTCTAATTTTTATTAAGTGTATGAATATCAGCTTTCAATATGATCATTGGCCTTGTGTGTTCAGGGATCGCTAATGTAATTTCAGGCAAGACATAACTTCGGAATTGTGGAGATAGATGGGATGCTGTACATTTTGGGAGGAGAGGATGGTGAAAAGGAGCTGATTTCCATGGAGTGTTACGATATTTATTCTAAAACCTGGACAAAGCAACCTGATTTGACCATGGTCAGAAAGGTGAGGACTGCATTTTGTGATAACTAGTCTGTGTACACATTGGATTTTAAACTTAATGTGTCTTCATATCCTGAATAAACCTTTAATATAACTGATGGTGTTAAAAGAATTAACTTTATAGAACTCTCTTTATCGGTAGTTTGCCTTCACTGTCATCAGCCACACACCAAGATAGGAAAGTGAGCGTGTGTGAGAGTTTATCCTGCTTGTGGGCCCTGTGCAGCACCGCTGTGTGTCAAGCTCCACATTTGAGTGTGCAAATGGTGCAGCAGCCACATCTTCCCAACCTATTTTCTTTCTGTCTTTCCCTCTCTTACTCTCTCTCTCTCTTTCCTTTTGTTGTTGAGAGAGGGTCTTACTCTGTTGCCCAGATTAGAGTGCGGTGGCGCCATCTTGGCTCACTGCAACCTCTTTCTGCCTCAAGCAATCCTCCCACCTCAGCCTACTGAATAGCTGGGACTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTTTTTTTAAGTAGAGATAGGGTTTCACTATGTTGCCCCGGCTGGTCTTGAACTCTTAGGCTGAAGCGATCCCCCATCTCTACAAAAAAGTTTTAAATAAAGTTAGCCGGGCACAGTGCTGTGCACCTGTAGTCCCAGCTACCCAGGAGGCTGAGGCGGAAGGATCTGTTGAGCCCAGGAGTTTGAAGCTGCAGTGAACTATGATGGCACCACTGCACTCCAGCCAAGGCAACTGAACGAGACCCTGTCTCTAATAAATAAATAAATAAAAATGAGGCTTTTGAACTTCTTTCAGTTAGTGAAATAGTATCAGTTGGAGTAAGAGCTCCTTTTCTGAAGATTAAGAATATGTGTCTTACTTTGCTCTTCTCATTTTAAAGTCCGGTGTTGTAATACTGAAAAGCACCATCGTTTTACGGTTAGAAATCAAACCCCTTCCTAAATCTCTTTAAGTATGGCCCAGACAGTTTAATATCTGTTCACCTGACCTGAATGAGAAATGTTGCCTCTCCCCCACCATTGTTCTCTGCTTTCAGATCGGCTGCTATGCAGCTATGAAAAAGAAAATCTACGCCATGGGTGGAGGCTCCTACGGAAAGCTTTTTGAGTCTGTAGAGTGTTATGATCCCAGGACCCAGCAGTGGACTGCCATATGTCCACTAAAAGAGAGGAGGTACGTGGCTGTGGGGTGGACTTTGTAGATTCCCTTGCTGTTCACTGGGTCTGGAGCCCCTTACCCTGCCTGGCTTTTGTTCTTTTCTTTCAGAGTAACCTTTTCTTTGACTTGGCATTTCCTGAGAAAGGAAGGCCCACGTAGTAATGCTGCAGAGTTAAACCAGCATAAGAGGAACGCGGGAGTGAGATCTCGCATTGTACAGCTTGTGCCTGATAACGCTGTGTGTGGCCTTTCAGGTTTGGAGCGGTGACCTGTGGAGTTGCTATGGAGCTGTATGTGTTTGGGGGAGTCCGAAGTCGTGAGGACGCCCAGGGTAGCGAGATGGTAACTTGCAAGTCCGAGTTCTACCATGATGAGTTTAAAAGGTAACTAAGAATGGTTTCACATAGCTACTGCAACTTTTTCTTTGTGCTTTCAGTCGTATTTTAGCTTTGTTTAGTTTTGTTTTCAGTCACTTTATTAAATTATGGATTTAGGAGATAACGTCTCATGCATACTAGATATTTATTCAGTGACTTCACAAGTGCTAGTAACTTAAAATGTCTGCAAATAGAAAATATCTCTAATATGTAGATGAGATCTTGACGCTTAGTTGCTTAAAATCATTTATTGGCTCCCTATAGCTTTTAGGAAAAAGTTTAAAACTCCTTAACTTGTTGGGCATGGTGGCTCACACCTGTAGTCTCAACATTTAGGGAGGTAGAAACTGAAGATTGCTTGAGCCCAGGAGTTAGAGATTTGCCTGGGCCACATAACAAGACCCTGTTCTCCAAAGAAAAATAAATAAACTCCTTAACTTAGCATATATAGCCTTTTGTGATATGGCCTTTGCTTTTTCTGCTACTGACCCAGATACTTTATACCGAGCCACTTTCCCCTGCAAACATGTGTGGTTGTCTCAGCTCTGTTCGTATTGCTGCTACTTGCCTAAAAGCTCCCTTCCCGCTGTCCATCCAGTTAGCTTGGCCTTTTTCAAAACTGCTTAGTTATCAAAACCTAGAGAAAGCCTTCTCATGCCTCCTAGTCTGATTTTTTATCCCTTCATCTATGATTCCATGCCCTCCAGACAAGTCTCTGGGGTTGTAGCTGTTAACTGCAAGCAACTTCAGGGCAAGGTCCACCTTCGTCAGCTCTGTATCCTGGCTTCCAGCATCCTACCTGTCTGTATCAGATGCTTAGTAAAATGTTGATTAAGTGGCTGAGGCTTGATTTCTGAGATTCTTAAAACCTCTGACAAGTGCCACGTATGTCTTGTAGGGTAGATAACATCCTTCTCGATGTCTTCTCTCTTTCCTCACACATTTTATTGTTGTAACCACTGAGCAGTATTCTTATTGCAGTAATATGTTTAAATCCTAAGGGGAAATTGCTGTGCTAAACGTAATTTTATTAGAGTAGTTCAGTCGTGCTACCAGAAGAGGGTGCCATAACATAATGTTTAATTTCATGCTGTTTTAGATGAGGGCACGCAGTGAGCAGTTACAAAGATGCTGCAAATGCATGTAAATGCTGCCTAACATGTATTTTAAATTTAGGGTATTTGCATAGCCTTTTTTTTCAATTACAGGAATAGACTATCTTAGGAAAATTTATTAGAGAGCAGTTTAGAGAATACTTGCTGTGGTAGGGGCAGATTTTCAGACTTCTCTACATTTTTCCTTCCTTGATACATGACTGGGAGGGCTGATTGCCCAAGGGATGAAGTCTTTTTTTTTCTTTCTTTCTTTTTTGGAGACAGTCTCGCTCTGTCGCCCGGGCTAGAGTGCAGTGGCGTGATCTCGGCTTACTGCACCATCTGCCTCCCGGGTTCAAGCGATTCTTCCACCTCGGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCACTATGTTTTCCAGGTTGGTCTCGAACTCCTGACTTAATGATCCGCCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTATCAGGTTGTTACATATTTGTACTGGATAAGCTTTTAATATAACTATCACTTGCTTTAAGTTCATAATAATTAAACGTAAGACTGTGGTTCCTTCTTTGCTGTTTAAAAGCACTTCTCGCCAGGTGCACTGGCTCCAGGCTATAATCCCAACACTTTGGGAGGCCGACGCGGGCAGATCACTTGAGGCCAGGAGTTCAAAACCAGCCCGGCCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAAAAAAATTAGCCAGGCATAGTGGCACGTGTCTGTAGT
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Task1_train_22961
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Here’s a variant in GAN (gigaxonin) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Giant axonal neuropathy 1
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CCTCCTTGACTCAAGCAATCCTCCCACCTCAGCCTGAGTAGCTGGGACAGATGCCACCACATTTGGCTAATTTTTGTATTTTTTGTAAAGACAAGGTTTCGCCATGTTGCCCAGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCACCTGCCTCAACCTCCCAAAGTATTGGGATTGCAGACTTGAGCCACCACACCTGGCCCCCAGTTTTAAAGTGAGCAAACCTTTAAACAGACATTTTATAAAAGAACATAAAATGGGGCTGGGTATGGTGGCTCACACCTGCAATCCCAGTACTTTAGGAGGCCAAGACAGAAGGATCACTTGAGCCCTGGAACCTGAGATCAGCCTGGGTAGCATGGTGAGACCTCATCTCTATGGAAAAAAAAAAAATTCATTAGCTGGGTGTGGTGGTGTGCACCTGTGGTCCCAACTATTTGGGAGGGTGGGGTGAGAGGATCACTAGAGTCCAAGAGGTTGAGACTGCAGTGAGCTGTGATTGCACCACTGCACTCCAGCCTGGATGAGTGACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAAATTCCATAAAATGACCAATAAGCTCAGGCAAAGATGCTCAACATCATTGGTCTTCAGGGAAGTATACGCCATTAAAGTAGCCAAAATTAAAAATATAATACTCAGATCTCACAGTGATACTGAGCAGTTGGAATTCTCATGCATTGCTAATTGGAGTGCAAAATTATGGCACAAAGCTTTGGAAAGCAGTGGGGCACTTTTTTTTTTTCCAGTAAACAATAACCTTACCATATAGCCCAGCAATTTCATAAGTCCGCAAAAAAGACTTGCTCTCTAATGTTCCTGACAGCCTTATTCATAACAGCCAAAAACTGGAACGTCAACAGGTGAATGAATAACAAATTCTGGGGCTGGACTCTGTGGCTTACGCCTGTTATACAGCATTTTAGGATGCTGAGGTGGGCAGATCACCTGAGCCCAGGAGCTCAAGACCAGCCTGGGCAACATGGCAATATCCCATCTTTATACATACATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTATACATATATGTGTATATGTATATACACACATATACATATATATGTGTATATGTGTATATATGTATGTATAAGTATATATTATATGTATGTATATGTATATATACATACATATATGTGTGTATATATGTGTGTATATATGTGTGTATATACATATGTGTATATGTGTATATATATGCACACGCATACACACACACACACACAGGAATTAGCTGAATGTGGTGGTGCACACCTGTAATCTCAGCTACTTGGAAGGCTGGGGTGGGAGGATCACCTGAACTGGTAGGTTGAGGCTGCAGTGAACCATAATTGTGCCACTGCACTCGGGAGGCCCTGTCTGAAAAACCAACAAATTCTGGTACATCCGTATGATGGAGTACTGCTTAGAAATAAACAGAAATGAATGACAGATGCAAACAACAGTGTGGATGAATCTCAGAAACCTTGTGCTGAGCAGAAGCAGGTTGGAAAGCACATGCTGTTTATGACTCAATACATGTTTCATTCTAGCACAGACAAAACTCCTATCTGTAGCGACTGGCAGCATGTCGGTGGTTACCTGGCAGTGGAACGTGGGGTCGAGATTGGCACAGTGCCTGATACTGCTGATGACTCACCAAGCTTGCTGTGTCAGTCTTCCTAGATGTTGTTGTCATCCTTTTGATTTCCTTAATTTTGTGCATGGGCTTTGTTTTCAGGTGGATCTATCTTAACGACCAGAATTTATGCATCCCCGCCAGTTCCTCTTTTGTTTATGGAGCTGTACCTATAGGAGCCAGTATTTATGTTATTGGAGATCTTGATACAGGTAAGAGTGTTACAGTGATTTTCTTGGAACTGTTTCCTGGTGATTCTGGGTACATTTTCTCACCCTTGCTTATTTCTGTGGCTTAGGTACCAATTACGACTACGTGCGTGAGTTTAAAAGAAGCACAGGAACCTGGCACCACACTAAACCACTCCTTCCATCCGACCTTCGCCGTACAGGATGTGCAGCCTTACGCATTGCGAATTGCAAGCTTTTCCGCCTGCAGCTTCAGCAAGGCTTATTCCGTATTCGTGTTCATTCCCCTTGAGGAGGAAGCAGAGCAGAGTGCGAGATCCTGACCCAAGAGCACCATAACATAGCTCCGAAAGGGAGAGCAGAGATGGCAGCTGAAACTCACTCTGTGCTGGGCTTTGGTATGGTAACTCTTTGGTGGTTTTATGATGCTTACAAACTTGAGCTTTAGCTCTTGTTTGGGAGAACACGTAACTGTTGAAAAACTACCTGGGAGGAGTGAGTTCCTCCAGTTAAATGTGGCTGTAGATGTTGGAGGCTAGGGAGGCTAGTAAATATCAAAAGGAAAAGGGAGTGGGAATTGCTATCATGTAAAATATCAAAGTTAAAATACTAAGGTGCATTTTCCCTGAAGGGAACTCATGTCTGACTGCTGTATTCAAATACGTAGCTTTGGTAACAAACAAAATCCGTATATGCAAATCAACATATCCAAACATGCCAAGACTGCTTTTCCACTGCACTTGGAAGGATATATTATGCCTAACCCTGCCCAACAAATTAAGGTTTGTGCCTAAAATGTTAGATTGGACTGTATGCCAGTTAGTCTCCATTTATTCCTAGTACTCTGTCCTAAGAATCTTTTTAAAACTATATCATGATGAATTGAAATGAAGATAAAATTGCTCTTTTGTAACTTTATCTTAGTAATGTAAAGATTCAGTAAATTGATGAGTCAGGTTGCAGCCCTCATGTGAACTGAAAGAAGTTGCTCGCTTCTGTGTTGACTTAGATCAAGACACGTCACGCATCCTTTCTGGGGTAGTACCTGTGGAGCCGGGAAGGGTCTCCTGCAGTGCCATTCTGCCTTCTCAATGAGCAAAACCATTTTCTAAGTATGAGGATATTAGTGAGTAGGAGATTTTATAAAAGAAAGACCTGAGTCAGACAAATAATAAAGGTCTGCTGTGGCTAAAAAAGCAAAAACAAAAAAGCTATCCAGACAAAATACATAGGGATCAGAAACTTTTTCATATAACCTGTCTGAAAGCACACAAAGTCTTGTTTACTACTGTTTAGGGTTTGAAAACTTGTCTTAGAATGCGAATCTGTGTTAAGAATCTAGTCTTTGTAATAGAAGTTTCCCAGTGGCATTCACTAGTGAGAGTTTTAGACAAATTATGTTACGAGTAAAGTTTGGCTGGTAGAATAAACTACCTCAACTTAATTTCATTCTGTTCATAGTAGAGCAAATTAATCTTTTCCTCCTTCCCTCCTTTCCTATCTCTCATTCTCACCTCAACCCACTTTACCCCACTTCTCATTGGGGGAAAAATGTCTTTCGTTCGTGGAACGTATCTTGTAAGATATTTTGTTTTCCACTTGAATTACACCACCCTAGTGTGAAATCGGGGACTTCAAAGTGCTTGATTCCTTCCTAAATTGAATTTTATGCAATGTCAAATTTCTAATCAATTTAATATACAGTACTTCATTTTTAATTGTTTTCTAAAAAAAAGGTTTTTTTTTTCCTTTTGGAATATGGCTGTAAGAAGCAGCATTTTGTCTTATTAACACATGTATAAAGGTATCCTTTGGTTTTAAGTCGAGAACAGGAATTTCTTCTAGAAACTTCCTGTATGGAACGTTTATATGCAATTAACATGCATATGAAAAACATCACTTACGTTCTCCCACCCATAGACATAAAAAAGGGTGACCTGTGATTTTTTTTCTTATACCTGCTGGAAGTCAGTACAATGCGTCAAAAGTTGCTGAAAGATGCTGTGCCTATGGGGTTCTAGAGAGTGTTGAGTGTGGTACATTAACTCTCCATTTTAGCCAGAAGATACCTGATAAGAGAAGGTGTAAGGTTTTTATCTTATATGCCAGAGGCACCAGGCCAGATGTGCCGCACAGTCATGTAATTCAATCATGTTTAATATGTCAGTCAAAACCAAATTCAGAATTGTTTTGTGTACCAGTCAGCTGTTGTCTG
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CCTCCTTGACTCAAGCAATCCTCCCACCTCAGCCTGAGTAGCTGGGACAGATGCCACCACATTTGGCTAATTTTTGTATTTTTTGTAAAGACAAGGTTTCGCCATGTTGCCCAGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCACCTGCCTCAACCTCCCAAAGTATTGGGATTGCAGACTTGAGCCACCACACCTGGCCCCCAGTTTTAAAGTGAGCAAACCTTTAAACAGACATTTTATAAAAGAACATAAAATGGGGCTGGGTATGGTGGCTCACACCTGCAATCCCAGTACTTTAGGAGGCCAAGACAGAAGGATCACTTGAGCCCTGGAACCTGAGATCAGCCTGGGTAGCATGGTGAGACCTCATCTCTATGGAAAAAAAAAAAATTCATTAGCTGGGTGTGGTGGTGTGCACCTGTGGTCCCAACTATTTGGGAGGGTGGGGTGAGAGGATCACTAGAGTCCAAGAGGTTGAGACTGCAGTGAGCTGTGATTGCACCACTGCACTCCAGCCTGGATGAGTGACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAAATTCCATAAAATGACCAATAAGCTCAGGCAAAGATGCTCAACATCATTGGTCTTCAGGGAAGTATACGCCATTAAAGTAGCCAAAATTAAAAATATAATACTCAGATCTCACAGTGATACTGAGCAGTTGGAATTCTCATGCATTGCTAATTGGAGTGCAAAATTATGGCACAAAGCTTTGGAAAGCAGTGGGGCACTTTTTTTTTTTCCAGTAAACAATAACCTTACCATATAGCCCAGCAATTTCATAAGTCCGCAAAAAAGACTTGCTCTCTAATGTTCCTGACAGCCTTATTCATAACAGCCAAAAACTGGAACGTCAACAGGTGAATGAATAACAAATTCTGGGGCTGGACTCTGTGGCTTACGCCTGTTATACAGCATTTTAGGATGCTGAGGTGGGCAGATCACCTGAGCCCAGGAGCTCAAGACCAGCCTGGGCAACATGGCAATATCCCATCTTTATACATACATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTATACATATATGTGTATATGTATATACACACATATACATATATATGTGTATATGTGTATATATGTATGTATAAGTATATATTATATGTATGTATATGTATATATACATACATATATGTGTGTATATATGTGTGTATATATGTGTGTATATACATATGTGTATATGTGTATATATATGCACACGCATACACACACACACACACAGGAATTAGCTGAATGTGGTGGTGCACACCTGTAATCTCAGCTACTTGGAAGGCTGGGGTGGGAGGATCACCTGAACTGGTAGGTTGAGGCTGCAGTGAACCATAATTGTGCCACTGCACTCGGGAGGCCCTGTCTGAAAAACCAACAAATTCTGGTACATCCGTATGATGGAGTACTGCTTAGAAATAAACAGAAATGAATGACAGATGCAAACAACAGTGTGGATGAATCTCAGAAACCTTGTGCTGAGCAGAAGCAGGTTGGAAAGCACATGCTGTTTATGACTCAATACATGTTTCATTCTAGCACAGACAAAACTCCTATCTGTAGCGACTGGCAGCATGTCGGTGGTTACCTGGCAGTGGAACGTGGGGTCGAGATTGGCACAGTGCCTGATACTGCTGATGACTCACCAAGCTTGCTGTGTCAGTCTTCCTAGATGTTGTTGTCATCCTTTTGATTTCCTTAATTTTGTGCATGGGCTTTGTTTTCAGGTGGATCTATCTTAACGACCAGAATTTATGCATCCCCGCCAGTTCCTCTTTTGTTTATGGAGCTGTACCTATAGGAGCCAGTATTTATGTTATTGGAGATCTTGATACAGGTAAGAGTGTTACAGTGATTTTCTTGGAACTGTTTCCTGGTGATTCTGGGTACATTTTCTCACCCTTGCTTATTTCTGTGGCTTAGGTACCAATTACGACTACGTGCGTGAGTTTAAAAGAAGCACAGGAACCTGGCACCACAGTAAACCACTCCTTCCATCCGACCTTCGCCGTACAGGATGTGCAGCCTTACGCATTGCGAATTGCAAGCTTTTCCGCCTGCAGCTTCAGCAAGGCTTATTCCGTATTCGTGTTCATTCCCCTTGAGGAGGAAGCAGAGCAGAGTGCGAGATCCTGACCCAAGAGCACCATAACATAGCTCCGAAAGGGAGAGCAGAGATGGCAGCTGAAACTCACTCTGTGCTGGGCTTTGGTATGGTAACTCTTTGGTGGTTTTATGATGCTTACAAACTTGAGCTTTAGCTCTTGTTTGGGAGAACACGTAACTGTTGAAAAACTACCTGGGAGGAGTGAGTTCCTCCAGTTAAATGTGGCTGTAGATGTTGGAGGCTAGGGAGGCTAGTAAATATCAAAAGGAAAAGGGAGTGGGAATTGCTATCATGTAAAATATCAAAGTTAAAATACTAAGGTGCATTTTCCCTGAAGGGAACTCATGTCTGACTGCTGTATTCAAATACGTAGCTTTGGTAACAAACAAAATCCGTATATGCAAATCAACATATCCAAACATGCCAAGACTGCTTTTCCACTGCACTTGGAAGGATATATTATGCCTAACCCTGCCCAACAAATTAAGGTTTGTGCCTAAAATGTTAGATTGGACTGTATGCCAGTTAGTCTCCATTTATTCCTAGTACTCTGTCCTAAGAATCTTTTTAAAACTATATCATGATGAATTGAAATGAAGATAAAATTGCTCTTTTGTAACTTTATCTTAGTAATGTAAAGATTCAGTAAATTGATGAGTCAGGTTGCAGCCCTCATGTGAACTGAAAGAAGTTGCTCGCTTCTGTGTTGACTTAGATCAAGACACGTCACGCATCCTTTCTGGGGTAGTACCTGTGGAGCCGGGAAGGGTCTCCTGCAGTGCCATTCTGCCTTCTCAATGAGCAAAACCATTTTCTAAGTATGAGGATATTAGTGAGTAGGAGATTTTATAAAAGAAAGACCTGAGTCAGACAAATAATAAAGGTCTGCTGTGGCTAAAAAAGCAAAAACAAAAAAGCTATCCAGACAAAATACATAGGGATCAGAAACTTTTTCATATAACCTGTCTGAAAGCACACAAAGTCTTGTTTACTACTGTTTAGGGTTTGAAAACTTGTCTTAGAATGCGAATCTGTGTTAAGAATCTAGTCTTTGTAATAGAAGTTTCCCAGTGGCATTCACTAGTGAGAGTTTTAGACAAATTATGTTACGAGTAAAGTTTGGCTGGTAGAATAAACTACCTCAACTTAATTTCATTCTGTTCATAGTAGAGCAAATTAATCTTTTCCTCCTTCCCTCCTTTCCTATCTCTCATTCTCACCTCAACCCACTTTACCCCACTTCTCATTGGGGGAAAAATGTCTTTCGTTCGTGGAACGTATCTTGTAAGATATTTTGTTTTCCACTTGAATTACACCACCCTAGTGTGAAATCGGGGACTTCAAAGTGCTTGATTCCTTCCTAAATTGAATTTTATGCAATGTCAAATTTCTAATCAATTTAATATACAGTACTTCATTTTTAATTGTTTTCTAAAAAAAAGGTTTTTTTTTTCCTTTTGGAATATGGCTGTAAGAAGCAGCATTTTGTCTTATTAACACATGTATAAAGGTATCCTTTGGTTTTAAGTCGAGAACAGGAATTTCTTCTAGAAACTTCCTGTATGGAACGTTTATATGCAATTAACATGCATATGAAAAACATCACTTACGTTCTCCCACCCATAGACATAAAAAAGGGTGACCTGTGATTTTTTTTCTTATACCTGCTGGAAGTCAGTACAATGCGTCAAAAGTTGCTGAAAGATGCTGTGCCTATGGGGTTCTAGAGAGTGTTGAGTGTGGTACATTAACTCTCCATTTTAGCCAGAAGATACCTGATAAGAGAAGGTGTAAGGTTTTTATCTTATATGCCAGAGGCACCAGGCCAGATGTGCCGCACAGTCATGTAATTCAATCATGTTTAATATGTCAGTCAAAACCAAATTCAGAATTGTTTTGTGTACCAGTCAGCTGTTGTCTG
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Task1_train_22962
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This mutation occurs in PLCG2 (phospholipase C gamma 2) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
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CAGTCCCACCCACCAGGTGCAGGGGTCCCCTTTTCTCCACATCCCCACCAGCACTTCTCCTTTAGCTAATAGCCATTCTAACAGGTGTGAGGTGACATCTCATAGTGGTTTTAATTTGCATTTATCTGATGATTAGTGATGCTGAACATTTTTTACGTAACTGTTGGCCATTTATGTATCTTCCTTTGAGAAATGTCTATTCAGATCCTTTGTCCATTTTTTAAAATTTTTTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACTGCGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTATCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACCACGCCCGGCCTTTGTCCATTTTTAAATTGGGTCATTTATTTTCTTACTATTGAGCTGTTTGACTTCCTTATATATTTTGGATATTGACCCCTTACCAGATGTTCAGTTTGCAGATGTTTTTCCCATTCTGTAGGTTGTTTATTTACTCTGTTGATTCTTTCCTTGGCTATGTAGAAGCCTCTTAGTTTGATAAAATCCCATTTATCCACTTTCACTTTTGTTGCCTGTGCTTTTGGGGTCATATCTGAAAAATAATTGCCCAGACCAATGCTACGGAGGTTTTCCTCTCTGTTTTCTTCTAGTAGTTTTACAGTTTCAGGTCTTATGTTTAAGTCTTTAATCCATTTTGAGCTGCTTTTTTTGTTTATGGTGTGAGATAATGGTCTAGTTTTCTTCTTTCGAAATTGCTATTATTTCTATATAGGAATTTATTTCAAAATTCTTTTAATTTTTTTAAATCTAGGTTTCCCAACCCTACTTATTTAACAGACTGTCCTTTCCCCCTGGTGTGTTCTAGACATCTTTATTGAAGATCAGTTGACTGTAAATGCATGGATTTATTTCTTGGCTATCTATTCTGTTCCACTGGTCTGTGTGTCTGTTTTTATGCCACTGTTGTGCTATTTTTATTACTATAGCTTTGTAGTATATTTTGAAGTAAGATAGTGTGCTATCTGCAGCTTTGTTATTTTTGCTCAAAATTGCTTTGGCTATTTGGGGTAGACATTTTTAAAAAGACCCTCTTGGCTGTAAACTTAGGGTCAAAAATATTTTTCCAGATGTTTCTGTCTTGCTGATAAAAGCTAATAAAACCAAGGAGGCTCTTCTGTTTTGGATTTTTTCTGCTTCATGTTTCAAACAGATGAAGGAATGAAAGACTTGTTTCTTTTTTTTTTTAAAAAAAGTCACTGTTTTGCTAGTTGAGTCACCGAAGACAAGATTTAATAATTTTGAGGTGGGGGGGATTGGCAAACATTTTCTGTGAAGGACCACAGAGTGAATATTTTAGGTTTTGCAGGCCATATGGTCTCTGTTGCAGCTACACAACTCTGCTGTTACAGTGTGAAAACAGTCCCAGACAATGTATAAACAAATGAACTGTAGCTGTGTTTCAATAAAGCTTTATTTATAAAAGCAGGTGGTGGGACACATTTGGCCTACTCTTGACCTAGTTCCCTAGGAAGCTCCTAAAGTCAAGTCCTGTAGTTGGGGAGGAGAGGAAGGGTAAGAGGAGCTGTTGAGTCACTCGGCCATATTTCTTCTGAGACACAGATTCTTCTAGATCTGTTTTGAAAATACCCACATCATTGTTTTCTTATTGTCTTGTATTCCATAGGAGGACTATACCCTGTTTATTTACCCACTTCTCTAAGGCTGGATAACTAGGTTGTATCTAATCAGTAGGGTTTGTGTAAAAATTGTTTGGCCACCAGGATCTTGGCATGTCAACCCTGTGTTCTTCCTGCTCCAGGGCTAGGGGCAAGGTAAAGCATTGTCGCATCAACCGGGACGGCCGGCACTTTGTGCTGGGGACCTCCGCCTATTTTGAGAGTCTGGTGGAGCTCGTCAGTTACTACGAGAAGCATTCACTCTACCGAAAGATGAGACTGCGCTACCCCGTGACCCCCGAGCTCCTGGAGCGCTACAATATGGTAGGTGGTGGACTCCCTTGTGATTTGGTGGGATTTCTTGTCTGAGGTTGTAACTCATCTGTTCATGAATTCAGCAAACCTCTGAGTATTCACCATGTATCTGATACTGCTGTAGGTCCTGGGGATACAAATTGAGCACAACAAAGACCCTGCCGTTGTGCTGCTTATAGTGTAGTGTTGGGGAGATGCAACAAATGACATTTAAAATATCCATAGCATGTGCCAGATGGTGATGAGTGCTATGGAGAAAAACACTGGGCAGGTGGATAAGAGGATACAGAGTGATGGGGAAGGGGTTGAAGTTTTCAGAGGGTGGTCTAGGAAGATCTCACTGAAAAGGAATGAGCCATGTGGGTATGTTCTGGAGGAAGAGAGGATAGCATGCGCAAAGGTCCTGAGGTAGAAGCCTGCCTGGAGGCACCAAGAGGAAGTCAGCATGGCCGGAATCAAGCCAGCCCAGGTGGGGGTAGAGCTAAATAAGGATGAGGGTTCACAGGTGACTTATCATGCAGGGGCTCATAGGCCATTGTAAGGCCCTGGCTTTTTCTCTGAGTCATTGGAGAGTTCTGGGTGCAGGAGAGACCTGATGTGGTTACTTTGTCTCCATTCCTACCACATAGATCATTAATTTATTGAAGAGAGATTTATGGCATCCCGATCATGTGCCAAGGACTGTTCTAGATACTAGGAGTACTGTGGAACAAAATCTGCTTTGGGAAATTTAGGTTCTGGAGAGGAGAGACAGATAATATACACAATTAAGATGTTTTCAGGTAGCATGAAATATAATAAAGCAAAGAAAACAGGATAGTGTGAAAAGGGGTGGACACTACCTTAGGCTGTGGGAGTGGAGATCAGAGAAGGCCACCTTAAAAGGGGAGAAATGTGAGCCGAAACATGGAAGATAGCAGTGAATGGGATCTGGGGAGAAGTGAATGAAGGGGTGACTCTAGGTACAGGAGTGGCCACATCACAAGCCCTAAGGTGACATGAGGAACAGAAAGAAGAGTTAGAGAGGAACAGAGAGGTGGTGGGGGTGGATCTTGTCAGTGGTGTGCTAGTAAATGTTCAAACAGCTCTCAGCGGGGTAGGGGGAAGGCACTGGTTTGTAGCATTTGCCAGTTTCCATGGTGTAAATACTTCCATGGAGGTCAGTTTCAAGTTGTTGATGTGCTGTCGTTGAACCTGGAACGTGGAGTCAGGAAGTGATGTACACAGTGGGCTTTTGTGAGCCGGGAGGTCACTCCAGCACACCATCGCATCTTAGGATTTGTGCTTTTACAAAGGAACGCAGTGCCTGGCACGCAGCAGGCCAGGACAGGGCCTCTCTGATTTTGGGTTAGTTTCCAAGTCTGGGGACCTTCTTTATAGCTTCTTCCTGTGTCTACTCATGGGCCAAAAGAAAATTCTATGAGGTTTCAACTCCTCTATCAAAGGATAGGTAACCATAAGGAAGCCTAGAACCCTTGTTATATGTAAGGGCTATTCCAGGAGCATGGATTATTCCATTTCTTTCTTTCTTTTTTTTTCCAGGAAAGAGATATAAACTCCCTCTACGACGTCAGCAGAATGTATGTGGATCCCAGTGAAATCAATCCGTCCATGGTACGGTGCCGAACCTCCAATTCACATGATTTTGGAGTCACGAGGCTGATGTGGATTCCATCTTGTTCCCATGGCAGTTATAACAGGGCAAGGGAAGACTTTGGAAAACCTGGCCAAAATAATTTTTTTTTTTTTTTGAGAAGAAAGGATGATTGATAATATCAAGCCTAGTTTCAGGGAAAATGTTAATAGAATTCCATCCAAATGCAACAGTGTTTTGCTAAAATTCTGAGGTTTGACGAACCACCTTTGGGCCAAATGGCTTCTAATGAAAAGTCTTTCAAATGTTTTTGGCTCGCTGACAGAGCCTGTGGTGTTTATAAATTC
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CAGTCCCACCCACCAGGTGCAGGGGTCCCCTTTTCTCCACATCCCCACCAGCACTTCTCCTTTAGCTAATAGCCATTCTAACAGGTGTGAGGTGACATCTCATAGTGGTTTTAATTTGCATTTATCTGATGATTAGTGATGCTGAACATTTTTTACGTAACTGTTGGCCATTTATGTATCTTCCTTTGAGAAATGTCTATTCAGATCCTTTGTCCATTTTTTAAAATTTTTTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACTGCGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTATCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACCACGCCCGGCCTTTGTCCATTTTTAAATTGGGTCATTTATTTTCTTACTATTGAGCTGTTTGACTTCCTTATATATTTTGGATATTGACCCCTTACCAGATGTTCAGTTTGCAGATGTTTTTCCCATTCTGTAGGTTGTTTATTTACTCTGTTGATTCTTTCCTTGGCTATGTAGAAGCCTCTTAGTTTGATAAAATCCCATTTATCCACTTTCACTTTTGTTGCCTGTGCTTTTGGGGTCATATCTGAAAAATAATTGCCCAGACCAATGCTACGGAGGTTTTCCTCTCTGTTTTCTTCTAGTAGTTTTACAGTTTCAGGTCTTATGTTTAAGTCTTTAATCCATTTTGAGCTGCTTTTTTTGTTTATGGTGTGAGATAATGGTCTAGTTTTCTTCTTTCGAAATTGCTATTATTTCTATATAGGAATTTATTTCAAAATTCTTTTAATTTTTTTAAATCTAGGTTTCCCAACCCTACTTATTTAACAGACTGTCCTTTCCCCCTGGTGTGTTCTAGACATCTTTATTGAAGATCAGTTGACTGTAAATGCATGGATTTATTTCTTGGCTATCTATTCTGTTCCACTGGTCTGTGTGTCTGTTTTTATGCCACTGTTGTGCTATTTTTATTACTATAGCTTTGTAGTATATTTTGAAGTAAGATAGTGTGCTATCTGCAGCTTTGTTATTTTTGCTCAAAATTGCTTTGGCTATTTGGGGTAGACATTTTTAAAAAGACCCTCTTGGCTGTAAACTTAGGGTCAAAAATATTTTTCCAGATGTTTCTGTCTTGCTGATAAAAGCTAATAAAACCAAGGAGGCTCTTCTGTTTTGGATTTTTTCTGCTTCATGTTTCAAACAGATGAAGGAATGAAAGACTTGTTTCTTTTTTTTTTTAAAAAAAGTCACTGTTTTGCTAGTTGAGTCACCGAAGACAAGATTTAATAATTTTGAGGTGGGGGGGATTGGCAAACATTTTCTGTGAAGGACCACAGAGTGAATATTTTAGGTTTTGCAGGCCATATGGTCTCTGTTGCAGCTACACAACTCTGCTGTTACAGTGTGAAAACAGTCCCAGACAATGTATAAACAAATGAACTGTAGCTGTGTTTCAATAAAGCTTTATTTATAAAAGCAGGTGGTGGGACACATTTGGCCTACTCTTGACCTAGTTCCCTAGGAAGCTCCTAAAGTCAAGTCCTGTAGTTGGGGAGGAGAGGAAGGGTAAGAGGAGCTGTTGAGTCACTCGGCCATATTTCTTCTGAGACACAGATTCTTCTAGATCTGTTTTGAAAATACCCACATCATTGTTTTCTTATTGTCTTGTATTCCATAGGAGGACTATACCCTGTTTATTTACCCACTTCTCTAAGGCTGGATAACTAGGTTGTATCTAATCAGTAGGGTTTGTGTAAAAATTGTTTGGCCACCAGGATCTTGGCATGTCAACCCTGTGTTCTTCCTGCTCCAGGGCTAGGGGCAAGGTAAAGCATTGTCGCATCAACCGGGACGGCCGGCACTTTGTGCTGGGGACCTACGCCTATTTTGAGAGTCTGGTGGAGCTCGTCAGTTACTACGAGAAGCATTCACTCTACCGAAAGATGAGACTGCGCTACCCCGTGACCCCCGAGCTCCTGGAGCGCTACAATATGGTAGGTGGTGGACTCCCTTGTGATTTGGTGGGATTTCTTGTCTGAGGTTGTAACTCATCTGTTCATGAATTCAGCAAACCTCTGAGTATTCACCATGTATCTGATACTGCTGTAGGTCCTGGGGATACAAATTGAGCACAACAAAGACCCTGCCGTTGTGCTGCTTATAGTGTAGTGTTGGGGAGATGCAACAAATGACATTTAAAATATCCATAGCATGTGCCAGATGGTGATGAGTGCTATGGAGAAAAACACTGGGCAGGTGGATAAGAGGATACAGAGTGATGGGGAAGGGGTTGAAGTTTTCAGAGGGTGGTCTAGGAAGATCTCACTGAAAAGGAATGAGCCATGTGGGTATGTTCTGGAGGAAGAGAGGATAGCATGCGCAAAGGTCCTGAGGTAGAAGCCTGCCTGGAGGCACCAAGAGGAAGTCAGCATGGCCGGAATCAAGCCAGCCCAGGTGGGGGTAGAGCTAAATAAGGATGAGGGTTCACAGGTGACTTATCATGCAGGGGCTCATAGGCCATTGTAAGGCCCTGGCTTTTTCTCTGAGTCATTGGAGAGTTCTGGGTGCAGGAGAGACCTGATGTGGTTACTTTGTCTCCATTCCTACCACATAGATCATTAATTTATTGAAGAGAGATTTATGGCATCCCGATCATGTGCCAAGGACTGTTCTAGATACTAGGAGTACTGTGGAACAAAATCTGCTTTGGGAAATTTAGGTTCTGGAGAGGAGAGACAGATAATATACACAATTAAGATGTTTTCAGGTAGCATGAAATATAATAAAGCAAAGAAAACAGGATAGTGTGAAAAGGGGTGGACACTACCTTAGGCTGTGGGAGTGGAGATCAGAGAAGGCCACCTTAAAAGGGGAGAAATGTGAGCCGAAACATGGAAGATAGCAGTGAATGGGATCTGGGGAGAAGTGAATGAAGGGGTGACTCTAGGTACAGGAGTGGCCACATCACAAGCCCTAAGGTGACATGAGGAACAGAAAGAAGAGTTAGAGAGGAACAGAGAGGTGGTGGGGGTGGATCTTGTCAGTGGTGTGCTAGTAAATGTTCAAACAGCTCTCAGCGGGGTAGGGGGAAGGCACTGGTTTGTAGCATTTGCCAGTTTCCATGGTGTAAATACTTCCATGGAGGTCAGTTTCAAGTTGTTGATGTGCTGTCGTTGAACCTGGAACGTGGAGTCAGGAAGTGATGTACACAGTGGGCTTTTGTGAGCCGGGAGGTCACTCCAGCACACCATCGCATCTTAGGATTTGTGCTTTTACAAAGGAACGCAGTGCCTGGCACGCAGCAGGCCAGGACAGGGCCTCTCTGATTTTGGGTTAGTTTCCAAGTCTGGGGACCTTCTTTATAGCTTCTTCCTGTGTCTACTCATGGGCCAAAAGAAAATTCTATGAGGTTTCAACTCCTCTATCAAAGGATAGGTAACCATAAGGAAGCCTAGAACCCTTGTTATATGTAAGGGCTATTCCAGGAGCATGGATTATTCCATTTCTTTCTTTCTTTTTTTTTCCAGGAAAGAGATATAAACTCCCTCTACGACGTCAGCAGAATGTATGTGGATCCCAGTGAAATCAATCCGTCCATGGTACGGTGCCGAACCTCCAATTCACATGATTTTGGAGTCACGAGGCTGATGTGGATTCCATCTTGTTCCCATGGCAGTTATAACAGGGCAAGGGAAGACTTTGGAAAACCTGGCCAAAATAATTTTTTTTTTTTTTTGAGAAGAAAGGATGATTGATAATATCAAGCCTAGTTTCAGGGAAAATGTTAATAGAATTCCATCCAAATGCAACAGTGTTTTGCTAAAATTCTGAGGTTTGACGAACCACCTTTGGGCCAAATGGCTTCTAATGAAAAGTCTTTCAAATGTTTTTGGCTCGCTGACAGAGCCTGTGGTGTTTATAAATTC
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Task1_train_22963
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A variant has been detected on Chromosome 16 in LOC130059554, MLYCD (ATAC-STARR-seq lymphoblastoid silent region 7769| malonyl-CoA decarboxylase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Deficiency of malonyl-CoA decarboxylase
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GGGTACCAAGCGGGGATGGTGCTAACCCATTTATGAGAACTCTGCCCCTATGATCCAATCATTTCTTACCAGGCGCCACCTCCAACACTGAGGATTACAACTAGACATGAGATTTGGTTGGACACAGATCCAAACCATATGAGCTATATTAACAATATTACATCTTCCAATCCATGAACCATGCATGGACCATTCCATTTGTTTAGGTCTTCTTTAATTTCCTTCAATACTGTTCTGTGGTTTTCCATCTACCAGTCTCACACTTCCTTGGTTAAACATGTTTCTTTTATCCCTTCAGATGTTGTTGTAAATAGAATTGTTTCTTTAATTTCATTTTTGGATTGGGGCAGTCTTTTGAAATAAGGACATGAGTGGGAAAAAGCAGAGGATGGCTGTTGACGCCTAGAGAAAAAAGTATAAACACAGAGAAAAAAAAAACAGAAGCCAGAAATTACATAAAAAGGAAGGCACCGGGAAAGATGAGAAAGAACAGGGTTGTGGGAGTACTACACTTAGCAAATGCTTAAGCAAAGTCAAGCTTTCAAGACAAGATTCCTAAAGCAAGGCAGGAGTATCCTAGGACAGACAAAAGCTCACTCGACAAGGCAAAGAGACAAACACCAGAGTTTGGACCCCACCAACTCCCTTAGCCAGCTGGCAATATGGTTTCACCACTTCTTAGAAAAGAGGAATGGAGAGGTGTCCTCAAAAGCCACCACTAGGCTTTCAGAATGTTTTGTGTGTCTGTGTCTTGGCAGAATGAGCCAAACGTACTTTCTTCGTGCCCCATAAGATGAGACACACCCAGCAAAGGCTGTCCTCATACAGAACTACCTCCAGGTGTCTTTTATACTGCAAGACCTGCACCAAAGGGTTCTACCTATAGAAATCCTAGCACCTAGACATAGTCAACCAAGTACATGGCTCCCTCACCCTCCAACCAAAGATGCCATATTTCCATCAGAGTGGAACAAAATCCCACTGTGTTCCTAATGCCTCCTGCAATTTTGCATGTGGGAGACATGGCTGGTATGTGACATTCTCTTCTACAGATTGTAATGGATTGGGGAAGGAGGGGGAACTAGAGTTCAGGCCTATCTTTCTAGAGGACAAAATAAATATGCCTTGATAACTGCAATTATCTGAAAACTATTTCAAAGAAAACTCTTTGTCTCATTCTGGCATTTGCTCAAGGGTATGGCTTTCCATCAGTCTCTCTGTCTCCATGTCTCTTTTACATACATATGTATGTGTATATGCGTGCGTATGTGTACATACATCCATACATATAGACATATTCTCTCTCTCTCCACACACACTCACACACCCCTCCAACCTCTGTGGCTCTGAGCGTCATGTGTGTAAGACACTGACGCGAATGGTGAGTGCCTAGGCAGGGGTCAAACAAAGGCTACCTACCATGCCAGAGGATTGCCACAAACACCTCTTAAGCAAGCATATTCCTTGGCTCCTCCCAGACACACTGAATCTGAATCTCTAGGATTCTGATTTCGGAGCCCAGGAATCCTCCGGTGCAGGAGTTCCCAGGTGACTCTGATGCACCGGGAGGCTGGAGGCGCTCGGATCTAGAGAGGAGGCGGCACTTGTGCAGTGCAGTCGGGAAAGAGAGGAGGGGCTGGGCCGGTGCCTTTAGGCGGTCAGGTGTTAGGACCGGAGTACAAGCCGCCAGCCGCGCGGGAGCAGGCCCCGAGGCAGCCCAGCCGCGGGGCAGTAACCTTTAGCCACACTTGGCCTCCGGCCGCCGCCAGAGCCGCTCCGCCCCCGCCGCCTCGCCCCCACCGCCCCGCCCTCCTATTGGCCGCGTCCCCAGCCGGGCTCGCGGCCTCGGCCAATGGGGCCGGCGCGCGCCGGAAGCCGGAAGCGCGGCAGCGGCGGCGGCGCTCCCCCTCGGCAGCTGTTGTGGGGCACCATGCGAGGCTTCGGGCCAGGCTTGACGGCCAGGCGTCTCCTCCCGCTGCGGTTGCCCCCGCGGCCGCCCGGGCCCCGGCTGGCGAGCGGGCAGGCGGCCGGCGCCCTGGAGCGGGCCATGGACGAGCTGCTGCGCCGCGCGGTGCCGCCGACGCCGGCCTACGAGCTGCGCGAGAAGACACCGGCGCCCGCCGAGGGTCAGTGCGCGGACTTCGTGAGCTTCTACGGTGGGCTGGCCGAGACGGCCCAGCGGGCCGAACTGCTGGGCCGCCTGGCGCGGGGCTTCGGCGTGGACCACGGCCAGGTGGCGGAGCAGAGCGCCGGCGTGCTCCATCTGCGCCAGCAGCAGCGGGAGGCGGCGGTGCTGCTGCAGGCCGAGGACCGGCTGCGCTACGCGCTGGTGCCGCGCTATCGCGGCCTCTTCCACCACATCAGCAAGCTGGACGGCGGCGTGCGCTTCCTGGTGCAGCTGCGGGCCGACCTGCTGGAGGCGCAGGCCCTCAAGCTGGTGGAGGGGCCGGACGTCCGGGTAAGGGGCCGCCGTCGATCCCCCGGCAGCGCGGACTGGCCGCCCTCCTCGAGTAGTCCTCACTTGCCCCCTCCAAGTCCCACACACCCCGCCTTCCCTGCCCGATAGCACGCTCACTTCGCCCGCAGTTACCGCCTGCCAACTGTGTCCCCTTCCCACGCTGTCTGAGTCCTGGCCTCGTCAGAGCACACCCCCGCCTTCCTCCAGTCTGTCCTTGAAGTCCTCACTTGTATAGTGTTTACTAAATACTCAGCACTTGGTGGTCTTTAAGGTAGCTGTCACCTCTCGTACCTGATTAGTGTGTGCTCTACAGTCTTTTGAAATTATTGTAGCTGAGAAGTGTTTCATCTATATGGTATACCTGAACTAGAGCATCAGGCAGCCTTCTGAGACCCTGGATGGTGTTTCAGAAGTTCACTGGGCACCCGCTATGTGTGAGACATTGTCCTGAGAAGTCCTGTGAAATGCACAAAGGTAAATAGGACTCAAGGTCACCACCACCACCCAGGAGTCTCCATGGCTTCTGGCCTTGTCTGTGCTCCATGACTTTTGGGAGGGCATTTAACTCCCTGCGTTCAGTACTTAATGTGATGATTCTGAGTTGACTTGAGGTAATCAGGCATTAGCACAGTTCATTCATGTTAAATGCAGACACATACTTTGAGATTTAAATGATTATGACCCGAAAGAAGGCCTAGAGCAACATATACTCTTCTTTTATACTGTTAGTATTAAATACGGCGAAAAACTAACCTGCCCTTTTTTTATTTTTATTTTTGTTGCCCAGACTGGAGTACAGTGGTGTTATCACGGCTCACTGCAGCCTCGACTTCCCCAGGCTCAAGCAATCTTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCAGGCCACCATGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTAGAGAGGGCGTTTCACCATGTGGCCCAGGCTTAACCTGCCCTTTTAATGAACGAAAAATGACGTAAATGTTTCAGGAAGTTTTGGACATTCAGAAGTTTGTTATGTGCAGTTGGTGTTAAAAAAAAATTGAACACTTGAATGATTATGACTTGACCCATTTAAGAACTCTAATACTGGTTTAATAGTTTACATTCCTTCAGTCTTACGTGGGTGATAACACGTATCCCTTTTACAGTAAAGGAGAACATGCTGAGGTTGTGTTACTTGTCCTGAAATTCAGAGCGAAAAGCTCTTGCTGATCACCCACCCTAATCCAGGGTTATTTGCACTACGCTTTATATCACTGTCTTACCGTTAATCAGATGTTTATTAGAAACTTTCTTTTTTGGCTACTTAGATGCATAAAATTGGGCATAATTAAGTATGGGATTAATGTCAAGAGTGACAACAGTGGCCATGATTTGATTCCCCGTGATAGCTGGTTAATTTACAGCGCTAAGTGTTACTGAGGGCCAGGCATCTTTGGCCGTAAGATTCTCAGACAGAAAGCCCACAGTTGCTAATTGCATGACACAGAATCAGTCATGAATTCTTACTGTGTTGAATTATCATGTTCTGGGCTCAAGCCTAGTCTGAATAGCTGAGTTTTTCTGATCCACACTTGGACATAGTACTTGCAGTATATCATCCCCCCATGTAAA
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GGGTACCAAGCGGGGATGGTGCTAACCCATTTATGAGAACTCTGCCCCTATGATCCAATCATTTCTTACCAGGCGCCACCTCCAACACTGAGGATTACAACTAGACATGAGATTTGGTTGGACACAGATCCAAACCATATGAGCTATATTAACAATATTACATCTTCCAATCCATGAACCATGCATGGACCATTCCATTTGTTTAGGTCTTCTTTAATTTCCTTCAATACTGTTCTGTGGTTTTCCATCTACCAGTCTCACACTTCCTTGGTTAAACATGTTTCTTTTATCCCTTCAGATGTTGTTGTAAATAGAATTGTTTCTTTAATTTCATTTTTGGATTGGGGCAGTCTTTTGAAATAAGGACATGAGTGGGAAAAAGCAGAGGATGGCTGTTGACGCCTAGAGAAAAAAGTATAAACACAGAGAAAAAAAAAACAGAAGCCAGAAATTACATAAAAAGGAAGGCACCGGGAAAGATGAGAAAGAACAGGGTTGTGGGAGTACTACACTTAGCAAATGCTTAAGCAAAGTCAAGCTTTCAAGACAAGATTCCTAAAGCAAGGCAGGAGTATCCTAGGACAGACAAAAGCTCACTCGACAAGGCAAAGAGACAAACACCAGAGTTTGGACCCCACCAACTCCCTTAGCCAGCTGGCAATATGGTTTCACCACTTCTTAGAAAAGAGGAATGGAGAGGTGTCCTCAAAAGCCACCACTAGGCTTTCAGAATGTTTTGTGTGTCTGTGTCTTGGCAGAATGAGCCAAACGTACTTTCTTCGTGCCCCATAAGATGAGACACACCCAGCAAAGGCTGTCCTCATACAGAACTACCTCCAGGTGTCTTTTATACTGCAAGACCTGCACCAAAGGGTTCTACCTATAGAAATCCTAGCACCTAGACATAGTCAACCAAGTACATGGCTCCCTCACCCTCCAACCAAAGATGCCATATTTCCATCAGAGTGGAACAAAATCCCACTGTGTTCCTAATGCCTCCTGCAATTTTGCATGTGGGAGACATGGCTGGTATGTGACATTCTCTTCTACAGATTGTAATGGATTGGGGAAGGAGGGGGAACTAGAGTTCAGGCCTATCTTTCTAGAGGACAAAATAAATATGCCTTGATAACTGCAATTATCTGAAAACTATTTCAAAGAAAACTCTTTGTCTCATTCTGGCATTTGCTCAAGGGTATGGCTTTCCATCAGTCTCTCTGTCTCCATGTCTCTTTTACATACATATGTATGTGTATATGCGTGCGTATGTGTACATACATCCATACATATAGACATATTCTCTCTCTCTCCACACACACTCACACACCCCTCCAACCTCTGTGGCTCTGAGCGTCATGTGTGTAAGACACTGACGCGAATGGTGAGTGCCTAGGCAGGGGTCAAACAAAGGCTACCTACCATGCCAGAGGATTGCCACAAACACCTCTTAAGCAAGCATATTCCTTGGCTCCTCCCAGACACACTGAATCTGAATCTCTAGGATTCTGATTTCGGAGCCCAGGAATCCTCCGGTGCAGGAGTTCCCAGGTGACTCTGATGCACCGGGAGGCTGGAGGCGCTCGGATCTAGAGAGGAGGCGGCACTTGTGCAGTGCAGTCGGGAAAGAGAGGAGGGGCTGGGCCGGTGCCTTTAGGCGGTCAGGTGTTAGGACCGGAGTACAAGCCGCCAGCCGCGCGGGAGCAGGCCCCGAGGCAGCCCAGCCGCGGGGCAGTAACCTTTAGCCACACTTGGCCTCCGGCCGCCGCCAGAGCCGCTCCGCCCCCGCCGCCTCGCCCCCACCGCCCCGCCCTCCTATTGGCCGCGTCCCCAGCCGGGCTCGCGGCCTCGGCCAATGGGGCCGGCGCGCGCCGGAAGCCGGAAGCGCGGCAGCGGCGGCGGCGCTCCCCCTCGGCAGCTGTTGTGGGGCACCATGCGAGGCTTCGGGCCAGGCTTGACGGCCAGGCGTCTCCTCCCGCTGCGGTTGCCCCCGCGGCCGCCCGGGCCCCGGCTGGCGAGCGGGCAGGCGGCCGGCGCCCTGGAGCGGGCCACGGACGAGCTGCTGCGCCGCGCGGTGCCGCCGACGCCGGCCTACGAGCTGCGCGAGAAGACACCGGCGCCCGCCGAGGGTCAGTGCGCGGACTTCGTGAGCTTCTACGGTGGGCTGGCCGAGACGGCCCAGCGGGCCGAACTGCTGGGCCGCCTGGCGCGGGGCTTCGGCGTGGACCACGGCCAGGTGGCGGAGCAGAGCGCCGGCGTGCTCCATCTGCGCCAGCAGCAGCGGGAGGCGGCGGTGCTGCTGCAGGCCGAGGACCGGCTGCGCTACGCGCTGGTGCCGCGCTATCGCGGCCTCTTCCACCACATCAGCAAGCTGGACGGCGGCGTGCGCTTCCTGGTGCAGCTGCGGGCCGACCTGCTGGAGGCGCAGGCCCTCAAGCTGGTGGAGGGGCCGGACGTCCGGGTAAGGGGCCGCCGTCGATCCCCCGGCAGCGCGGACTGGCCGCCCTCCTCGAGTAGTCCTCACTTGCCCCCTCCAAGTCCCACACACCCCGCCTTCCCTGCCCGATAGCACGCTCACTTCGCCCGCAGTTACCGCCTGCCAACTGTGTCCCCTTCCCACGCTGTCTGAGTCCTGGCCTCGTCAGAGCACACCCCCGCCTTCCTCCAGTCTGTCCTTGAAGTCCTCACTTGTATAGTGTTTACTAAATACTCAGCACTTGGTGGTCTTTAAGGTAGCTGTCACCTCTCGTACCTGATTAGTGTGTGCTCTACAGTCTTTTGAAATTATTGTAGCTGAGAAGTGTTTCATCTATATGGTATACCTGAACTAGAGCATCAGGCAGCCTTCTGAGACCCTGGATGGTGTTTCAGAAGTTCACTGGGCACCCGCTATGTGTGAGACATTGTCCTGAGAAGTCCTGTGAAATGCACAAAGGTAAATAGGACTCAAGGTCACCACCACCACCCAGGAGTCTCCATGGCTTCTGGCCTTGTCTGTGCTCCATGACTTTTGGGAGGGCATTTAACTCCCTGCGTTCAGTACTTAATGTGATGATTCTGAGTTGACTTGAGGTAATCAGGCATTAGCACAGTTCATTCATGTTAAATGCAGACACATACTTTGAGATTTAAATGATTATGACCCGAAAGAAGGCCTAGAGCAACATATACTCTTCTTTTATACTGTTAGTATTAAATACGGCGAAAAACTAACCTGCCCTTTTTTTATTTTTATTTTTGTTGCCCAGACTGGAGTACAGTGGTGTTATCACGGCTCACTGCAGCCTCGACTTCCCCAGGCTCAAGCAATCTTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCAGGCCACCATGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTAGAGAGGGCGTTTCACCATGTGGCCCAGGCTTAACCTGCCCTTTTAATGAACGAAAAATGACGTAAATGTTTCAGGAAGTTTTGGACATTCAGAAGTTTGTTATGTGCAGTTGGTGTTAAAAAAAAATTGAACACTTGAATGATTATGACTTGACCCATTTAAGAACTCTAATACTGGTTTAATAGTTTACATTCCTTCAGTCTTACGTGGGTGATAACACGTATCCCTTTTACAGTAAAGGAGAACATGCTGAGGTTGTGTTACTTGTCCTGAAATTCAGAGCGAAAAGCTCTTGCTGATCACCCACCCTAATCCAGGGTTATTTGCACTACGCTTTATATCACTGTCTTACCGTTAATCAGATGTTTATTAGAAACTTTCTTTTTTGGCTACTTAGATGCATAAAATTGGGCATAATTAAGTATGGGATTAATGTCAAGAGTGACAACAGTGGCCATGATTTGATTCCCCGTGATAGCTGGTTAATTTACAGCGCTAAGTGTTACTGAGGGCCAGGCATCTTTGGCCGTAAGATTCTCAGACAGAAAGCCCACAGTTGCTAATTGCATGACACAGAATCAGTCATGAATTCTTACTGTGTTGAATTATCATGTTCTGGGCTCAAGCCTAGTCTGAATAGCTGAGTTTTTCTGATCCACACTTGGACATAGTACTTGCAGTATATCATCCCCCCATGTAAA
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Task1_train_22964
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This is a variant in SLC38A8 (solute carrier family 38 member 8), located on Chromosome 16. Is this mutation a likely cause of disease or not?
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Pathogenic; FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING
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CTGTTCAGAGGGCATGCCCGTAGCAGGCAAACCCAGAGACTGAGCGCAGCTGCATGGTTGCTGGGAGCTGAGGGAGGGAGAAATGGGGGGTAACTGCTAATGGGCACTAAGTTTCTTCTGAGCGTGACAAAAACGGACTAGAATTACTGGGGCAGCTGCACAGCTCTGTGAGCACACTAAAAACCACTGGATTGTACACTGTAAAGAAGTGAATCATTACGGTATACACCTTTTATCTCAATTTTGAAAATTCATGCATGTGGACAAGCTGAAATAAATATGGACCTGTCACCGCCAGCCTTGCACGGTCACGTGCATTGTACCATGTGACAGCAGGAAAGGCCTGGCCTACTGCCTGCCCTGAAGAAGGCATCCTCAAATGTCAGTCCCACCCTCCCCTGACTCTGGCACTGCTGGCTTCTAGGAGGATGTCCCAAGGCAGAGAAGCGTGGCCTGAACTGAATCTAGCAACCGGGGCCTCTGCAGGGTCAATGCCAGGGAGGACGCAAAGGAGCAGCTGGGTCCGTGTCTGCCTCTCCACATCCTACCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTGTTATTGTTGTTGAGATGGAATACTGCTCTGTCACCCAGGCTGGAGGGCAGTGGCACAATCTTGGCTTGCTGCAACCTCCACTTCTCAGGTTCAAACGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATTACAAGCGCCCCCAACTATGCCCGGCTAATTTTTTTGTACTTTCAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTTCTCAAGCTCCTGACCTCAAGTGATCTGCCCGCGTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCTACCTCCTTTTCTTTACCCAGGCCCTAGAAGCAAACCTCGTCTCCTCTTGCTCTCTGCTGCCAGTGTGACCCCTTGTCCCAGAATTGGGGAGGCCACCAGGGAGAACTGCAGAGCCAACAGTCCACTTGGCTTCCAGGCTCTTTGAGTCCAGCTGGTGGGAGGGAAAGCACAGTTTCCTTGGAGTCATCCACCCTCCACGGGGCATGGGCCAAGTGCATGGCGGTGTGGCGTGTTCCGGGCATACACCTCCTTGGGCCTGTCACAGCCAAGGGCAGGATTCGGGCATTTCCTGCGCCCTGGCCAAAGGACCATTTGAGTCCATCACCATCGCCAGCCATGCCTCCTCCCACTCCCTTCTGGGCTTCCCATTGCTGTGCAGTATCCTTACCTGACACCCTTGATCCTGACACTCCAAAGCCAATTATCTGGGCCTCAGCCCCTAGCTCCCTTTTATGGATTGAATCTTGTCTCCCAGAAACATCAGTTGAGGTTGAACCCCCGGAACCTGTGAACATAACCTTATTTGGAAATTGCATCTTTGTGGGTCCTAATTAATACAAGATGCAGGCAACTTATGATGAGATCACACTACTTACGGAGGTGGGAGGAGCTCACTTAGTGATGGGTATCTTTTTAAGAGAGAGATTTGGACACAGAGGATACACAGGGGAGAGTCACATGAAGACAAGAGCAGACACTGGAGTGAGGCAGCCACAAGCCAAGGAGTGCCGGCCACCCCTAGAACTGGGAAGACAGGAGGGAGCCTCCCCTAGAGCCCACAGAGGGAGCATGGCCCTAATGACACGTGATTTCAGACTCCTGGCCTCCAGAACTGTGATGCAACAAGCATCTGTTGTTTTAAGCCACCAGAGTGCGGTTATGGTCATTTATCACAGCGGCCATAAGAACTTTCCTCACCTTTGTACCAGAAACCCTTCGAACCCGCATAGCCCCATGAGCAGCCCAAGGAGGCAGAAGGCATCAGTCTCTCCAGCATCTTTATGAGGAAAAGAAATGGCATCGGTCTCCTGGCTGCATACAGCAGCCACGTAGGGTCAGCCCCCGGAGGGCCCCTTCCTGCCCGGCACTAGCTGCCCATCAGAACATCTCCCAGACCGCTGCCGCCGTGCTCTGCCCAAAGATGAAGGTGCCGACCAGCACAGAGACCACTCCCCAGACCTCCAGGCAGCACCTGCCAAGTGAATAAACCCATGTCAGAGCTTTTCTGGATTTTTGCACAAATAAGCCACACACACATAAAAAATTCACTATGTAGAGCCCAGTATGGAGTCATCAATTTGGAAAAAAGAAAAATTCAGAATATTTCCAGTTACCTGTAGGGATGGGTTTCCAAGACAATGGGAAGCAAAGTACCCAGGCAATTTTTTTTTTTTTTTTTTTTTGAGGTGGAGTCTCATTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGACACACACGATGACACGAGGCCAATTTTTGTATTTTTAGTAGAGATGGAGTTTCATCATGTTTGCTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATTCGCCCTCCTCAGCTTCCTAAAGTACTGGGATTACAAGCGCAAGCCACCGTTGCTGGCCGCAAGCAGTTTTTAAAAGCCCTCCGATCCCACCTGTTATGTCATAAGCTCATTCCTCCCCAGTATTTTATCAAATAAAAAGACATGGGGGCCAGGCATGGTGGCACAAGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATTCACCTGAGGTCATGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAATTAGCCAGGCACGGTGGCAGGCACCTGTATTCCCAGCTATGTGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGCAGAGGTCGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGAGGACAGAGCAAGACTCCATCTCAAAAAGAGAAAAAGACATGGAGAGAAGGGAGACACTACTTTGAAAAGTCCCCCCACCCTCCCTTTCTGTTCCTCAGCCTCTGATGAAATCCCATGAAAATGAAGGAGAAGACGCAAGCTCTAAGTCACACACGATCTCAGAGGGGTAGGGGACGAGGACGCAGGAGGCAGAGGTGGCTGGGACTGGCAGCCACCGAGGCCACATTTGTGAGCTTCGTCATGTAACCAGAGATGGGGTAGACAAGGAGGTCAGAGCGATAACAAGATTCCCACAAAATGGCAGGGCCACCAGAGATATTTGTGGCCCCATTAACAAAGACCAGAAGGCCGGGTTGTCATGGAAGGAACATTTCTAACCGAGCAGCATCTCAGCACGGCTGTTCAGCGCCATAAACATCCATTCATCTGTGCGGGGACTGTGAGGCTAATGTGCCTGTGGGCTGTGGCACTCCTGGAGCAGCGCTGATGTATTAGAAGGACCCAAAGCAGTTTTAACGATAAAAATATCTTGAAAGCTCATCAGTAAAAACTGTTGTGAGCTCAGATCAAGGAACAAAACAAAAAGCATGAAGACTCCGAAAAGCATCCCAGGGAATGAGCGGCTTAGGGGGTTACCAGACATTGGGAGGCTGGTTCAATACCCAAGGCAGGTTTAGAAACATCCAGAAACACTGCTCTCAAATCCAGAAGAAACCGGGCCAGGCCTGCTCCTTTGCAAAAACCAAGCTTGGGCTCAATGGGGCTAGAGGGCCGGGGGTATAGGGGAACAGACCTACAGCTGGCACCCAAATTCACGATTGCTGCCATTTAACATTATCTGGGATGGGGTGAAGGGTGGCCCCCAAAATTCATGTCTACCTGGAACCTGTGCTTGCCAGCTTATCTGGAAACTGGGTTTTGCAGATGTAATTAAGGAAAAGATCTTGAGAGAAGATACAACCTAGATTTAGGGTGGACCCTAATCTGATGGTAGGTATCCTTATAAAAGAAAGGCAGCCAGGTGTGATGGTGGGCGTCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGGGGTTGAGGCTGTAGTGAGCCACAATTACGCCACTGCACTCCAGCCGGAGCAACAGAGCAAGACTCTGTCTCAAAAACTAAAATAAATAAAAGC
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CTGTTCAGAGGGCATGCCCGTAGCAGGCAAACCCAGAGACTGAGCGCAGCTGCATGGTTGCTGGGAGCTGAGGGAGGGAGAAATGGGGGGTAACTGCTAATGGGCACTAAGTTTCTTCTGAGCGTGACAAAAACGGACTAGAATTACTGGGGCAGCTGCACAGCTCTGTGAGCACACTAAAAACCACTGGATTGTACACTGTAAAGAAGTGAATCATTACGGTATACACCTTTTATCTCAATTTTGAAAATTCATGCATGTGGACAAGCTGAAATAAATATGGACCTGTCACCGCCAGCCTTGCACGGTCACGTGCATTGTACCATGTGACAGCAGGAAAGGCCTGGCCTACTGCCTGCCCTGAAGAAGGCATCCTCAAATGTCAGTCCCACCCTCCCCTGACTCTGGCACTGCTGGCTTCTAGGAGGATGTCCCAAGGCAGAGAAGCGTGGCCTGAACTGAATCTAGCAACCGGGGCCTCTGCAGGGTCAATGCCAGGGAGGACGCAAAGGAGCAGCTGGGTCCGTGTCTGCCTCTCCACATCCTACCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTGTTATTGTTGTTGAGATGGAATACTGCTCTGTCACCCAGGCTGGAGGGCAGTGGCACAATCTTGGCTTGCTGCAACCTCCACTTCTCAGGTTCAAACGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATTACAAGCGCCCCCAACTATGCCCGGCTAATTTTTTTGTACTTTCAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTTCTCAAGCTCCTGACCTCAAGTGATCTGCCCGCGTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCTACCTCCTTTTCTTTACCCAGGCCCTAGAAGCAAACCTCGTCTCCTCTTGCTCTCTGCTGCCAGTGTGACCCCTTGTCCCAGAATTGGGGAGGCCACCAGGGAGAACTGCAGAGCCAACAGTCCACTTGGCTTCCAGGCTCTTTGAGTCCAGCTGGTGGGAGGGAAAGCACAGTTTCCTTGGAGTCATCCACCCTCCACGGGGCATGGGCCAAGTGCATGGCGGTGTGGCGTGTTCCGGGCATACACCTCCTTGGGCCTGTCACAGCCAAGGGCAGGATTCGGGCATTTCCTGCGCCCTGGCCAAAGGACCATTTGAGTCCATCACCATCGCCAGCCATGCCTCCTCCCACTCCCTTCTGGGCTTCCCATTGCTGTGCAGTATCCTTACCTGACACCCTTGATCCTGACACTCCAAAGCCAATTATCTGGGCCTCAGCCCCTAGCTCCCTTTTATGGATTGAATCTTGTCTCCCAGAAACATCAGTTGAGGTTGAACCCCCGGAACCTGTGAACATAACCTTATTTGGAAATTGCATCTTTGTGGGTCCTAATTAATACAAGATGCAGGCAACTTATGATGAGATCACACTACTTACGGAGGTGGGAGGAGCTCACTTAGTGATGGGTATCTTTTTAAGAGAGAGATTTGGACACAGAGGATACACAGGGGAGAGTCACATGAAGACAAGAGCAGACACTGGAGTGAGGCAGCCACAAGCCAAGGAGTGCCGGCCACCCCTAGAACTGGGAAGACAGGAGGGAGCCTCCCCTAGAGCCCACAGAGGGAGCATGGCCCTAATGACACGTGATTTCAGACTCCTGGCCTCCAGAACTGTGATGCAACAAGCATCTGTTGTTTTAAGCCACCAGAGTGCGGTTATGGTCATTTATCACAGCGGCCATAAGAACTTTCCTCACCTTTGTACCAGAAACCCTTCGAACCCGCATAGCCCCATGAGCAGCCCAAGGAGGCAGAAGGCATCAGTCTCTCCAGCATCTTTATGAGGAAAAGAAATGGCATCGGTCTCCTGGCTGCATACAGCAGCCACGTAGGGTCAGCCCCCGGAGGGCCCCTTCCTGCCCGGCACTAGCTGCCCATCAGAACATCTCCCAGACCGCTGCCGCCGTGCTCTGCCCAAAGATGAAGGTGCCGACCAGCACAGAGACCACTCTCCAGACCTCCAGGCAGCACCTGCCAAGTGAATAAACCCATGTCAGAGCTTTTCTGGATTTTTGCACAAATAAGCCACACACACATAAAAAATTCACTATGTAGAGCCCAGTATGGAGTCATCAATTTGGAAAAAAGAAAAATTCAGAATATTTCCAGTTACCTGTAGGGATGGGTTTCCAAGACAATGGGAAGCAAAGTACCCAGGCAATTTTTTTTTTTTTTTTTTTTTGAGGTGGAGTCTCATTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGACACACACGATGACACGAGGCCAATTTTTGTATTTTTAGTAGAGATGGAGTTTCATCATGTTTGCTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATTCGCCCTCCTCAGCTTCCTAAAGTACTGGGATTACAAGCGCAAGCCACCGTTGCTGGCCGCAAGCAGTTTTTAAAAGCCCTCCGATCCCACCTGTTATGTCATAAGCTCATTCCTCCCCAGTATTTTATCAAATAAAAAGACATGGGGGCCAGGCATGGTGGCACAAGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATTCACCTGAGGTCATGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAATTAGCCAGGCACGGTGGCAGGCACCTGTATTCCCAGCTATGTGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGCAGAGGTCGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGAGGACAGAGCAAGACTCCATCTCAAAAAGAGAAAAAGACATGGAGAGAAGGGAGACACTACTTTGAAAAGTCCCCCCACCCTCCCTTTCTGTTCCTCAGCCTCTGATGAAATCCCATGAAAATGAAGGAGAAGACGCAAGCTCTAAGTCACACACGATCTCAGAGGGGTAGGGGACGAGGACGCAGGAGGCAGAGGTGGCTGGGACTGGCAGCCACCGAGGCCACATTTGTGAGCTTCGTCATGTAACCAGAGATGGGGTAGACAAGGAGGTCAGAGCGATAACAAGATTCCCACAAAATGGCAGGGCCACCAGAGATATTTGTGGCCCCATTAACAAAGACCAGAAGGCCGGGTTGTCATGGAAGGAACATTTCTAACCGAGCAGCATCTCAGCACGGCTGTTCAGCGCCATAAACATCCATTCATCTGTGCGGGGACTGTGAGGCTAATGTGCCTGTGGGCTGTGGCACTCCTGGAGCAGCGCTGATGTATTAGAAGGACCCAAAGCAGTTTTAACGATAAAAATATCTTGAAAGCTCATCAGTAAAAACTGTTGTGAGCTCAGATCAAGGAACAAAACAAAAAGCATGAAGACTCCGAAAAGCATCCCAGGGAATGAGCGGCTTAGGGGGTTACCAGACATTGGGAGGCTGGTTCAATACCCAAGGCAGGTTTAGAAACATCCAGAAACACTGCTCTCAAATCCAGAAGAAACCGGGCCAGGCCTGCTCCTTTGCAAAAACCAAGCTTGGGCTCAATGGGGCTAGAGGGCCGGGGGTATAGGGGAACAGACCTACAGCTGGCACCCAAATTCACGATTGCTGCCATTTAACATTATCTGGGATGGGGTGAAGGGTGGCCCCCAAAATTCATGTCTACCTGGAACCTGTGCTTGCCAGCTTATCTGGAAACTGGGTTTTGCAGATGTAATTAAGGAAAAGATCTTGAGAGAAGATACAACCTAGATTTAGGGTGGACCCTAATCTGATGGTAGGTATCCTTATAAAAGAAAGGCAGCCAGGTGTGATGGTGGGCGTCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGGGGTTGAGGCTGTAGTGAGCCACAATTACGCCACTGCACTCCAGCCGGAGCAACAGAGCAAGACTCTGTCTCAAAAACTAAAATAAATAAAAGC
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Task1_train_22965
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Given this variant in gene SLC38A8 (solute carrier family 38 member 8) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS
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CTTAGCAAAAGGCCACAGGGCCACAACCTTGGTTTCCTATACGCGCTGCACTCTATACGGCCAGGCTGAAAGAGTTCCAGATCTTGCTGCTTTGGTTCTCTTTTGATGATCAATTTCATCTTCAAGTCATTTTTTGCCTGTTCCAGCATAACGTGAGCAGCTAAGAGTAGCCATGCAGCATCCTGAATGCTCTGCTCCTTGGATATCTCTTCCGCCAGATACCCTAGTTCATCCTTTTTTGCCGGCAGGGGAGGGATGACAGAGTCTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCCAGCTCCCAGGTTCAATTGATACTCCTGCCTCAACCTCCCAAGCAGCTGGGATTACAGGTGCCCCGCCACCATGCTCGGCTAATTTTTTGTATTTTTAATAGAAATGCGGTTTTACCATGTTTCACAGGCTGGTCTCAAAATCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGCGATGACAGGAGTGAGCCACGGCACCCGGCCAGTTCATCCCTTTCAAGTTCAGCCTTCCACAAAACCCTCAGGCATGGACACAGTTCAGCCAAATTATTTGCCAGCTTCTAACAGGTTTGTCCTTTACTCCAGCTTCCAAAACCTTGTTCCTCAGTTCCGTCTGAAACCTCCTCAGAACAGACTTTACTATCCATATTTCCATGACTAACTAGAGTATCTAAGAAGTTCCAAATGTTCCCTAGTCTTGTCTCTAAGCCCTCACCAGAATCTAGGCTTATTCTAGCCTGCTCCTCCGAATTCTTCCAGCCTGCACTCATTGCCCAGCTCCAAAGCCGCTTCCACGTTCCAGGTAGTCAATCATCAACACCCCACTCTTGATACCAATTTTCTGTCTTAGTCCATTTTTTGTTGGTTACAACAGAATGCCTGAAATTGAGTAATTTATACAGAAAGGAAATTTTTTTACAGTTATGGAGATTGAGAAGTCCAGGATCAAGAGGCTACATCTGGGGAGAGCCTTCTTGCCGGAGGGGACTTTGCAGAGCCCTGAAGTGGCGCGCAGAGTGTCACATGGCAAGGGGGCTGAGTGTGTGAGCCCAGGTCTCTCTTCTTCTTCTTATAAAGCCACCAGCCCCACTCCCATGATAACCTATTAATCCACTAATCCATGAATAGATTAATCCATTCTTGAGGGCAGAGGCCTCATGCCCCAATCCCCTCTTGAAGGCCCCACGTCTCAATGCTACCACATCAGGGATTAAATTTCAACCTGAGTTTTTAAGAGGATAAATATTCAAACCATAACACACAGGAGTCCAAGGCTGCCTGAGAGATTCACTGCAGCCCAAGAGCTTCCTAGACTGGAGGATACGTTGGTGAATGAAAAAAGACTGGCGTCAAGTGGCCAACCAGAAGCCAGCCGTGCCAGGGACCTGGGACTGTCCTTCCAATGCACTGTACGATCCTGCGTGTCACAGCCCCTCTCTGAGCCACACTTTCATCACCTTTAAAGACCCTCTGCCTCCCACACACAGTTTGTGAGCACCTGAGTCCACTGCACCCACAAACGTTTTGTAAACCCTACCCAGATGTTACAGTGTAATGACGGACAGCAGTCAATGTCCTTTGAACAGCAGGCAGCAGGGCTGGGGTGTGGTGTGTCAGAGCACGGGCTTTGGAGACGGCTAGGCTGGAGTTCAGGTCTCAGCTTTGCAGATCTAGCTGTGAAACCTCGAACAAGTTCTGGAGGGCACCTGAGCCTCAGCTTCCTCATCTATGAAATGAGGCCTTTTCCTATGCACACTAAGGATTAAATAAGATGCTCAAAACATTGAGTATTGAGCCCAGCACGTGGTAAACTCTCTAGAGAGATACTCGCTGTTACTCTTGTTTCTACTGTCACTCCCCACCCTCTGCAGGGGTGCCTGGGAAGGGCCTTACCCGTCAGTGAATAGATGAGGCAGCAGGCCAGCAAGGACAGCACAGACACCAGGGCCCAGTGGGAGAGGCTCCGTTTGCGCATGCTGCAGTAGATGGAGACGGCAGCTTCGTGACACTGTAAGACAGAGGGCGGCTCAGCAGGATGCTGGCTTCCCCTGGAACAGGCGATGCGAAAAAAAACTCATATCCAAAAGGCGGGAAATGTGGGATATGATGAGGTTTCTCTTGAAATAGCCTGATCAATCCTTTATTCTTTAATTCACAGTACACCCCCAACCCCTCTTTCCTTTTCTCCTTCCTTTCTGCCTTTGTTACATGCCCAAACACGCCACAGTACCAGGCATTATCAATACAAGCTCGCATTCCTTTCCTTATTTTTTAAAAAACTAGCTCTCTAGCTCATTACAAACACCCACTGCCCCTTTCCCCTCTCTCCCTTACCTGCCCACCTTATCTAAAAAAAAGTTCAAATGTTCAACTGAGGCTAGTTTAGATTGTGCGGCCCAACCCCAGCCAATGGGAAAAGGGTACAGGAGCAGGACTTGCATCAGGAATAAAGGCTCTTGTACTCCTTTGCTCGGGTGTGCTCTGACCAAGAAAAAGCACCCCTCTGCACAAAAGTAAAATTACTTTGCTAAGAATCCTTTCAGTGTTCCGTTTTCTTAAGATTTTGAGCGTTATTCCCAACAGAACCCACATGCCCACCAAGAGCAGAGGGCGTAAGTAAATGGCAGGATACTAACACACAGAGCATGATGTGGCTCTGACAAAGAACCATGCACCTCAACACAGACGAATCTCAGTCAGAACAATGAACACCACAGGAAGCCACATAGGTGCCGGGCACGCTGGCTCGCACCTGTCACCCCAGCACTTTGGGAGGCCGAAGGGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAATTCCATCTCTACTTAAAATACAAAAATTAGCCGGGCATGGTAATGAGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGTGAATCACTGGAATTCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGAAAGACACAGTGACACTGTGTCTCAAAAGAAAAACAAGCCGGGCAGCAGAGAATGTTTCCGTTAATGGATGCGAAGTCCAAGTTACAAGATAAACACTTCTACACCAGGGTTTCTCAGCCTTGACACGATTGATGTCTGGTGTGGGTTAACTCTTGGCAGCCGCCCTGTGTGTTTGGGGTGGGGGTGTTGTGCAGTGTCCCTGGCCGGGACCTACTACATGCCAGTAACAGCCCCCCTCCCCCAAGTTGTGACAACCCAAAATGTCTGCAGACATGGTCAAATGTTCCCTGGGGGTATAACCAACCCACGCAAACCCCACTCTGTGGTGCTAGAAGGCAGGATGGTGGTTTGGGTAGGGTGGGTGCTACTGACCAGAAAAGGTCATGAAGGGGTTCCCGGGGGCTTGACCATGTCACATGGGTGCACACATACTTAGAATCTACATACTGTATATGTGACATGCCATATTGGGGTAAGCATTTTTTTTTGGTAGAGATGACTTCTTACTACATTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGCGACCCTCCTGCTTTGGCCTCCCTAAGTGCTGAGATTACAAGTACGAGCCACCATGCCCAAGGGGGATAAGAATTTTAAACGCAGGAGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGTGTGGATCACCTGAGGTCTGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTATAAAAATTAGTCAGGTGTGGTGGCAAGCACCTGTAATCCTAGTTACTTGGGAGGCTAAGGCAGGAGAGTCGCTCAAGCCTGGGAGGCAGAGTCTCGCTCTGTCACCCAGAATGGACTGAAGTGGCGCGAACTTGGCTCGCCGCAACCTCCGCCTCCCGGGCTTAAGCGACTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCCCAGCTAATTTTTTATATTTTTGGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTCTCATACTCCTGACCTCAAGTGA
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CTTAGCAAAAGGCCACAGGGCCACAACCTTGGTTTCCTATACGCGCTGCACTCTATACGGCCAGGCTGAAAGAGTTCCAGATCTTGCTGCTTTGGTTCTCTTTTGATGATCAATTTCATCTTCAAGTCATTTTTTGCCTGTTCCAGCATAACGTGAGCAGCTAAGAGTAGCCATGCAGCATCCTGAATGCTCTGCTCCTTGGATATCTCTTCCGCCAGATACCCTAGTTCATCCTTTTTTGCCGGCAGGGGAGGGATGACAGAGTCTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCCAGCTCCCAGGTTCAATTGATACTCCTGCCTCAACCTCCCAAGCAGCTGGGATTACAGGTGCCCCGCCACCATGCTCGGCTAATTTTTTGTATTTTTAATAGAAATGCGGTTTTACCATGTTTCACAGGCTGGTCTCAAAATCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGCGATGACAGGAGTGAGCCACGGCACCCGGCCAGTTCATCCCTTTCAAGTTCAGCCTTCCACAAAACCCTCAGGCATGGACACAGTTCAGCCAAATTATTTGCCAGCTTCTAACAGGTTTGTCCTTTACTCCAGCTTCCAAAACCTTGTTCCTCAGTTCCGTCTGAAACCTCCTCAGAACAGACTTTACTATCCATATTTCCATGACTAACTAGAGTATCTAAGAAGTTCCAAATGTTCCCTAGTCTTGTCTCTAAGCCCTCACCAGAATCTAGGCTTATTCTAGCCTGCTCCTCCGAATTCTTCCAGCCTGCACTCATTGCCCAGCTCCAAAGCCGCTTCCACGTTCCAGGTAGTCAATCATCAACACCCCACTCTTGATACCAATTTTCTGTCTTAGTCCATTTTTTGTTGGTTACAACAGAATGCCTGAAATTGAGTAATTTATACAGAAAGGAAATTTTTTTACAGTTATGGAGATTGAGAAGTCCAGGATCAAGAGGCTACATCTGGGGAGAGCCTTCTTGCCGGAGGGGACTTTGCAGAGCCCTGAAGTGGCGCGCAGAGTGTCACATGGCAAGGGGGCTGAGTGTGTGAGCCCAGGTCTCTCTTCTTCTTCTTATAAAGCCACCAGCCCCACTCCCATGATAACCTATTAATCCACTAATCCATGAATAGATTAATCCATTCTTGAGGGCAGAGGCCTCATGCCCCAATCCCCTCTTGAAGGCCCCACGTCTCAATGCTACCACATCAGGGATTAAATTTCAACCTGAGTTTTTAAGAGGATAAATATTCAAACCATAACACACAGGAGTCCAAGGCTGCCTGAGAGATTCACTGCAGCCCAAGAGCTTCCTAGACTGGAGGATACGTTGGTGAATGAAAAAAGACTGGCGTCAAGTGGCCAACCAGAAGCCAGCCGTGCCAGGGACCTGGGACTGTCCTTCCAATGCACTGTACGATCCTGCGTGTCACAGCCCCTCTCTGAGCCACACTTTCATCACCTTTAAAGACCCTCTGCCTCCCACACACAGTTTGTGAGCACCTGAGTCCACTGCACCCACAAACGTTTTGTAAACCCTACCCAGATGTTACAGTGTAATGACGGACAGCAGTCAATGTCCTTTGAACAGCAGGCAGCAGGGCTGGGGTGTGGTGTGTCAGAGCACGGGCTTTGGAGACGGCTAGGCTGGAGTTCAGGTCTCAGCTTTGCAGATCTAGCTGTGAAACCTCGAACAAGTTCTGGAGGGCACCTGAGCCTCAGCTTCCTCATCTATGAAATGAGGCCTTTTCCTATGCACACTAAGGATTAAATAAGATGCTCAAAACATTGAGTATTGAGCCCAGCACGTGGTAAACTCTCTAGAGAGATACTCGCTGTTACTCTTGTTTCTACTGTCACTCCCCACCCTCTGCAGGGGTGCCTGGGAAGGGCCTTACCCGTCAGTGAATAGATGAGGCAGCAGGCCAGCAAGGACAGCACAGACACCAGGGCCCAGTGGGAGAGGCTCCGTTTGCGCATGCTGCAGTAGATGGAGTCGGCAGCTTCGTGACACTGTAAGACAGAGGGCGGCTCAGCAGGATGCTGGCTTCCCCTGGAACAGGCGATGCGAAAAAAAACTCATATCCAAAAGGCGGGAAATGTGGGATATGATGAGGTTTCTCTTGAAATAGCCTGATCAATCCTTTATTCTTTAATTCACAGTACACCCCCAACCCCTCTTTCCTTTTCTCCTTCCTTTCTGCCTTTGTTACATGCCCAAACACGCCACAGTACCAGGCATTATCAATACAAGCTCGCATTCCTTTCCTTATTTTTTAAAAAACTAGCTCTCTAGCTCATTACAAACACCCACTGCCCCTTTCCCCTCTCTCCCTTACCTGCCCACCTTATCTAAAAAAAAGTTCAAATGTTCAACTGAGGCTAGTTTAGATTGTGCGGCCCAACCCCAGCCAATGGGAAAAGGGTACAGGAGCAGGACTTGCATCAGGAATAAAGGCTCTTGTACTCCTTTGCTCGGGTGTGCTCTGACCAAGAAAAAGCACCCCTCTGCACAAAAGTAAAATTACTTTGCTAAGAATCCTTTCAGTGTTCCGTTTTCTTAAGATTTTGAGCGTTATTCCCAACAGAACCCACATGCCCACCAAGAGCAGAGGGCGTAAGTAAATGGCAGGATACTAACACACAGAGCATGATGTGGCTCTGACAAAGAACCATGCACCTCAACACAGACGAATCTCAGTCAGAACAATGAACACCACAGGAAGCCACATAGGTGCCGGGCACGCTGGCTCGCACCTGTCACCCCAGCACTTTGGGAGGCCGAAGGGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAATTCCATCTCTACTTAAAATACAAAAATTAGCCGGGCATGGTAATGAGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGTGAATCACTGGAATTCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGAAAGACACAGTGACACTGTGTCTCAAAAGAAAAACAAGCCGGGCAGCAGAGAATGTTTCCGTTAATGGATGCGAAGTCCAAGTTACAAGATAAACACTTCTACACCAGGGTTTCTCAGCCTTGACACGATTGATGTCTGGTGTGGGTTAACTCTTGGCAGCCGCCCTGTGTGTTTGGGGTGGGGGTGTTGTGCAGTGTCCCTGGCCGGGACCTACTACATGCCAGTAACAGCCCCCCTCCCCCAAGTTGTGACAACCCAAAATGTCTGCAGACATGGTCAAATGTTCCCTGGGGGTATAACCAACCCACGCAAACCCCACTCTGTGGTGCTAGAAGGCAGGATGGTGGTTTGGGTAGGGTGGGTGCTACTGACCAGAAAAGGTCATGAAGGGGTTCCCGGGGGCTTGACCATGTCACATGGGTGCACACATACTTAGAATCTACATACTGTATATGTGACATGCCATATTGGGGTAAGCATTTTTTTTTGGTAGAGATGACTTCTTACTACATTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGCGACCCTCCTGCTTTGGCCTCCCTAAGTGCTGAGATTACAAGTACGAGCCACCATGCCCAAGGGGGATAAGAATTTTAAACGCAGGAGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGTGTGGATCACCTGAGGTCTGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTATAAAAATTAGTCAGGTGTGGTGGCAAGCACCTGTAATCCTAGTTACTTGGGAGGCTAAGGCAGGAGAGTCGCTCAAGCCTGGGAGGCAGAGTCTCGCTCTGTCACCCAGAATGGACTGAAGTGGCGCGAACTTGGCTCGCCGCAACCTCCGCCTCCCGGGCTTAAGCGACTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCCCAGCTAATTTTTTATATTTTTGGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTCTCATACTCCTGACCTCAAGTGA
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Task1_train_22966
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The gene SLC38A8 (solute carrier family 38 member 8) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
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GGCCACAGGGCCACAACCTTGGTTTCCTATACGCGCTGCACTCTATACGGCCAGGCTGAAAGAGTTCCAGATCTTGCTGCTTTGGTTCTCTTTTGATGATCAATTTCATCTTCAAGTCATTTTTTGCCTGTTCCAGCATAACGTGAGCAGCTAAGAGTAGCCATGCAGCATCCTGAATGCTCTGCTCCTTGGATATCTCTTCCGCCAGATACCCTAGTTCATCCTTTTTTGCCGGCAGGGGAGGGATGACAGAGTCTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCCAGCTCCCAGGTTCAATTGATACTCCTGCCTCAACCTCCCAAGCAGCTGGGATTACAGGTGCCCCGCCACCATGCTCGGCTAATTTTTTGTATTTTTAATAGAAATGCGGTTTTACCATGTTTCACAGGCTGGTCTCAAAATCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGCGATGACAGGAGTGAGCCACGGCACCCGGCCAGTTCATCCCTTTCAAGTTCAGCCTTCCACAAAACCCTCAGGCATGGACACAGTTCAGCCAAATTATTTGCCAGCTTCTAACAGGTTTGTCCTTTACTCCAGCTTCCAAAACCTTGTTCCTCAGTTCCGTCTGAAACCTCCTCAGAACAGACTTTACTATCCATATTTCCATGACTAACTAGAGTATCTAAGAAGTTCCAAATGTTCCCTAGTCTTGTCTCTAAGCCCTCACCAGAATCTAGGCTTATTCTAGCCTGCTCCTCCGAATTCTTCCAGCCTGCACTCATTGCCCAGCTCCAAAGCCGCTTCCACGTTCCAGGTAGTCAATCATCAACACCCCACTCTTGATACCAATTTTCTGTCTTAGTCCATTTTTTGTTGGTTACAACAGAATGCCTGAAATTGAGTAATTTATACAGAAAGGAAATTTTTTTACAGTTATGGAGATTGAGAAGTCCAGGATCAAGAGGCTACATCTGGGGAGAGCCTTCTTGCCGGAGGGGACTTTGCAGAGCCCTGAAGTGGCGCGCAGAGTGTCACATGGCAAGGGGGCTGAGTGTGTGAGCCCAGGTCTCTCTTCTTCTTCTTATAAAGCCACCAGCCCCACTCCCATGATAACCTATTAATCCACTAATCCATGAATAGATTAATCCATTCTTGAGGGCAGAGGCCTCATGCCCCAATCCCCTCTTGAAGGCCCCACGTCTCAATGCTACCACATCAGGGATTAAATTTCAACCTGAGTTTTTAAGAGGATAAATATTCAAACCATAACACACAGGAGTCCAAGGCTGCCTGAGAGATTCACTGCAGCCCAAGAGCTTCCTAGACTGGAGGATACGTTGGTGAATGAAAAAAGACTGGCGTCAAGTGGCCAACCAGAAGCCAGCCGTGCCAGGGACCTGGGACTGTCCTTCCAATGCACTGTACGATCCTGCGTGTCACAGCCCCTCTCTGAGCCACACTTTCATCACCTTTAAAGACCCTCTGCCTCCCACACACAGTTTGTGAGCACCTGAGTCCACTGCACCCACAAACGTTTTGTAAACCCTACCCAGATGTTACAGTGTAATGACGGACAGCAGTCAATGTCCTTTGAACAGCAGGCAGCAGGGCTGGGGTGTGGTGTGTCAGAGCACGGGCTTTGGAGACGGCTAGGCTGGAGTTCAGGTCTCAGCTTTGCAGATCTAGCTGTGAAACCTCGAACAAGTTCTGGAGGGCACCTGAGCCTCAGCTTCCTCATCTATGAAATGAGGCCTTTTCCTATGCACACTAAGGATTAAATAAGATGCTCAAAACATTGAGTATTGAGCCCAGCACGTGGTAAACTCTCTAGAGAGATACTCGCTGTTACTCTTGTTTCTACTGTCACTCCCCACCCTCTGCAGGGGTGCCTGGGAAGGGCCTTACCCGTCAGTGAATAGATGAGGCAGCAGGCCAGCAAGGACAGCACAGACACCAGGGCCCAGTGGGAGAGGCTCCGTTTGCGCATGCTGCAGTAGATGGAGACGGCAGCTTCGTGACACTGTAAGACAGAGGGCGGCTCAGCAGGATGCTGGCTTCCCCTGGAACAGGCGATGCGAAAAAAAACTCATATCCAAAAGGCGGGAAATGTGGGATATGATGAGGTTTCTCTTGAAATAGCCTGATCAATCCTTTATTCTTTAATTCACAGTACACCCCCAACCCCTCTTTCCTTTTCTCCTTCCTTTCTGCCTTTGTTACATGCCCAAACACGCCACAGTACCAGGCATTATCAATACAAGCTCGCATTCCTTTCCTTATTTTTTAAAAAACTAGCTCTCTAGCTCATTACAAACACCCACTGCCCCTTTCCCCTCTCTCCCTTACCTGCCCACCTTATCTAAAAAAAAGTTCAAATGTTCAACTGAGGCTAGTTTAGATTGTGCGGCCCAACCCCAGCCAATGGGAAAAGGGTACAGGAGCAGGACTTGCATCAGGAATAAAGGCTCTTGTACTCCTTTGCTCGGGTGTGCTCTGACCAAGAAAAAGCACCCCTCTGCACAAAAGTAAAATTACTTTGCTAAGAATCCTTTCAGTGTTCCGTTTTCTTAAGATTTTGAGCGTTATTCCCAACAGAACCCACATGCCCACCAAGAGCAGAGGGCGTAAGTAAATGGCAGGATACTAACACACAGAGCATGATGTGGCTCTGACAAAGAACCATGCACCTCAACACAGACGAATCTCAGTCAGAACAATGAACACCACAGGAAGCCACATAGGTGCCGGGCACGCTGGCTCGCACCTGTCACCCCAGCACTTTGGGAGGCCGAAGGGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAATTCCATCTCTACTTAAAATACAAAAATTAGCCGGGCATGGTAATGAGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGTGAATCACTGGAATTCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGAAAGACACAGTGACACTGTGTCTCAAAAGAAAAACAAGCCGGGCAGCAGAGAATGTTTCCGTTAATGGATGCGAAGTCCAAGTTACAAGATAAACACTTCTACACCAGGGTTTCTCAGCCTTGACACGATTGATGTCTGGTGTGGGTTAACTCTTGGCAGCCGCCCTGTGTGTTTGGGGTGGGGGTGTTGTGCAGTGTCCCTGGCCGGGACCTACTACATGCCAGTAACAGCCCCCCTCCCCCAAGTTGTGACAACCCAAAATGTCTGCAGACATGGTCAAATGTTCCCTGGGGGTATAACCAACCCACGCAAACCCCACTCTGTGGTGCTAGAAGGCAGGATGGTGGTTTGGGTAGGGTGGGTGCTACTGACCAGAAAAGGTCATGAAGGGGTTCCCGGGGGCTTGACCATGTCACATGGGTGCACACATACTTAGAATCTACATACTGTATATGTGACATGCCATATTGGGGTAAGCATTTTTTTTTGGTAGAGATGACTTCTTACTACATTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGCGACCCTCCTGCTTTGGCCTCCCTAAGTGCTGAGATTACAAGTACGAGCCACCATGCCCAAGGGGGATAAGAATTTTAAACGCAGGAGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGTGTGGATCACCTGAGGTCTGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTATAAAAATTAGTCAGGTGTGGTGGCAAGCACCTGTAATCCTAGTTACTTGGGAGGCTAAGGCAGGAGAGTCGCTCAAGCCTGGGAGGCAGAGTCTCGCTCTGTCACCCAGAATGGACTGAAGTGGCGCGAACTTGGCTCGCCGCAACCTCCGCCTCCCGGGCTTAAGCGACTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCCCAGCTAATTTTTTATATTTTTGGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTCTCATACTCCTGACCTCAAGTGATCCTCCCACC
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GGCCACAGGGCCACAACCTTGGTTTCCTATACGCGCTGCACTCTATACGGCCAGGCTGAAAGAGTTCCAGATCTTGCTGCTTTGGTTCTCTTTTGATGATCAATTTCATCTTCAAGTCATTTTTTGCCTGTTCCAGCATAACGTGAGCAGCTAAGAGTAGCCATGCAGCATCCTGAATGCTCTGCTCCTTGGATATCTCTTCCGCCAGATACCCTAGTTCATCCTTTTTTGCCGGCAGGGGAGGGATGACAGAGTCTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCCAGCTCCCAGGTTCAATTGATACTCCTGCCTCAACCTCCCAAGCAGCTGGGATTACAGGTGCCCCGCCACCATGCTCGGCTAATTTTTTGTATTTTTAATAGAAATGCGGTTTTACCATGTTTCACAGGCTGGTCTCAAAATCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGCGATGACAGGAGTGAGCCACGGCACCCGGCCAGTTCATCCCTTTCAAGTTCAGCCTTCCACAAAACCCTCAGGCATGGACACAGTTCAGCCAAATTATTTGCCAGCTTCTAACAGGTTTGTCCTTTACTCCAGCTTCCAAAACCTTGTTCCTCAGTTCCGTCTGAAACCTCCTCAGAACAGACTTTACTATCCATATTTCCATGACTAACTAGAGTATCTAAGAAGTTCCAAATGTTCCCTAGTCTTGTCTCTAAGCCCTCACCAGAATCTAGGCTTATTCTAGCCTGCTCCTCCGAATTCTTCCAGCCTGCACTCATTGCCCAGCTCCAAAGCCGCTTCCACGTTCCAGGTAGTCAATCATCAACACCCCACTCTTGATACCAATTTTCTGTCTTAGTCCATTTTTTGTTGGTTACAACAGAATGCCTGAAATTGAGTAATTTATACAGAAAGGAAATTTTTTTACAGTTATGGAGATTGAGAAGTCCAGGATCAAGAGGCTACATCTGGGGAGAGCCTTCTTGCCGGAGGGGACTTTGCAGAGCCCTGAAGTGGCGCGCAGAGTGTCACATGGCAAGGGGGCTGAGTGTGTGAGCCCAGGTCTCTCTTCTTCTTCTTATAAAGCCACCAGCCCCACTCCCATGATAACCTATTAATCCACTAATCCATGAATAGATTAATCCATTCTTGAGGGCAGAGGCCTCATGCCCCAATCCCCTCTTGAAGGCCCCACGTCTCAATGCTACCACATCAGGGATTAAATTTCAACCTGAGTTTTTAAGAGGATAAATATTCAAACCATAACACACAGGAGTCCAAGGCTGCCTGAGAGATTCACTGCAGCCCAAGAGCTTCCTAGACTGGAGGATACGTTGGTGAATGAAAAAAGACTGGCGTCAAGTGGCCAACCAGAAGCCAGCCGTGCCAGGGACCTGGGACTGTCCTTCCAATGCACTGTACGATCCTGCGTGTCACAGCCCCTCTCTGAGCCACACTTTCATCACCTTTAAAGACCCTCTGCCTCCCACACACAGTTTGTGAGCACCTGAGTCCACTGCACCCACAAACGTTTTGTAAACCCTACCCAGATGTTACAGTGTAATGACGGACAGCAGTCAATGTCCTTTGAACAGCAGGCAGCAGGGCTGGGGTGTGGTGTGTCAGAGCACGGGCTTTGGAGACGGCTAGGCTGGAGTTCAGGTCTCAGCTTTGCAGATCTAGCTGTGAAACCTCGAACAAGTTCTGGAGGGCACCTGAGCCTCAGCTTCCTCATCTATGAAATGAGGCCTTTTCCTATGCACACTAAGGATTAAATAAGATGCTCAAAACATTGAGTATTGAGCCCAGCACGTGGTAAACTCTCTAGAGAGATACTCGCTGTTACTCTTGTTTCTACTGTCACTCCCCACCCTCTGCAGGGGTGCCTGGGAAGGGCCTTACCCGTCAGTGAATAGATGAGGCAGCAGGCCAGCAAGGACAGCACAGACACCAGGGCCCAGTGGGAGAGGCTCCGTTTGCGCATGCTGCAGTAGATGGAGACGGCAGCTTTGTGACACTGTAAGACAGAGGGCGGCTCAGCAGGATGCTGGCTTCCCCTGGAACAGGCGATGCGAAAAAAAACTCATATCCAAAAGGCGGGAAATGTGGGATATGATGAGGTTTCTCTTGAAATAGCCTGATCAATCCTTTATTCTTTAATTCACAGTACACCCCCAACCCCTCTTTCCTTTTCTCCTTCCTTTCTGCCTTTGTTACATGCCCAAACACGCCACAGTACCAGGCATTATCAATACAAGCTCGCATTCCTTTCCTTATTTTTTAAAAAACTAGCTCTCTAGCTCATTACAAACACCCACTGCCCCTTTCCCCTCTCTCCCTTACCTGCCCACCTTATCTAAAAAAAAGTTCAAATGTTCAACTGAGGCTAGTTTAGATTGTGCGGCCCAACCCCAGCCAATGGGAAAAGGGTACAGGAGCAGGACTTGCATCAGGAATAAAGGCTCTTGTACTCCTTTGCTCGGGTGTGCTCTGACCAAGAAAAAGCACCCCTCTGCACAAAAGTAAAATTACTTTGCTAAGAATCCTTTCAGTGTTCCGTTTTCTTAAGATTTTGAGCGTTATTCCCAACAGAACCCACATGCCCACCAAGAGCAGAGGGCGTAAGTAAATGGCAGGATACTAACACACAGAGCATGATGTGGCTCTGACAAAGAACCATGCACCTCAACACAGACGAATCTCAGTCAGAACAATGAACACCACAGGAAGCCACATAGGTGCCGGGCACGCTGGCTCGCACCTGTCACCCCAGCACTTTGGGAGGCCGAAGGGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAATTCCATCTCTACTTAAAATACAAAAATTAGCCGGGCATGGTAATGAGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGTGAATCACTGGAATTCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGAAAGACACAGTGACACTGTGTCTCAAAAGAAAAACAAGCCGGGCAGCAGAGAATGTTTCCGTTAATGGATGCGAAGTCCAAGTTACAAGATAAACACTTCTACACCAGGGTTTCTCAGCCTTGACACGATTGATGTCTGGTGTGGGTTAACTCTTGGCAGCCGCCCTGTGTGTTTGGGGTGGGGGTGTTGTGCAGTGTCCCTGGCCGGGACCTACTACATGCCAGTAACAGCCCCCCTCCCCCAAGTTGTGACAACCCAAAATGTCTGCAGACATGGTCAAATGTTCCCTGGGGGTATAACCAACCCACGCAAACCCCACTCTGTGGTGCTAGAAGGCAGGATGGTGGTTTGGGTAGGGTGGGTGCTACTGACCAGAAAAGGTCATGAAGGGGTTCCCGGGGGCTTGACCATGTCACATGGGTGCACACATACTTAGAATCTACATACTGTATATGTGACATGCCATATTGGGGTAAGCATTTTTTTTTGGTAGAGATGACTTCTTACTACATTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGCGACCCTCCTGCTTTGGCCTCCCTAAGTGCTGAGATTACAAGTACGAGCCACCATGCCCAAGGGGGATAAGAATTTTAAACGCAGGAGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGTGTGGATCACCTGAGGTCTGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTATAAAAATTAGTCAGGTGTGGTGGCAAGCACCTGTAATCCTAGTTACTTGGGAGGCTAAGGCAGGAGAGTCGCTCAAGCCTGGGAGGCAGAGTCTCGCTCTGTCACCCAGAATGGACTGAAGTGGCGCGAACTTGGCTCGCCGCAACCTCCGCCTCCCGGGCTTAAGCGACTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCCCAGCTAATTTTTTATATTTTTGGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTCTCATACTCCTGACCTCAAGTGATCCTCCCACC
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Task1_train_22967
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A mutation found in SLC38A8 (solute carrier family 38 member 8) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
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TCAAGGTGGTATGGCCCTAGACTGTTTTCATCAAATGGCACTAAACCGCCAACCCTAACGCGTCAGGCTTCCAACCTCTGCCCACTGACTTCACATTTAAACGCTCCCCATGCAGAAGCCTCACCAGCTAAGTGGAGGATAGCAGCCTCCCCCAAATCTTCCATCATTCACAGTGACATCACTCCAGCCCCAACTCCATCTCCCCGGTAGCCCTGGAGGCTAAAAGGAACAACTTGGGGTGGCGGGAGCGTGTCAAGAGCCAGGCTGGCTCCTCTGCTCTGCCATGAGTTTCCATTTATTCACCTCAGGGTTCCCTTCTCCTCAAGTCTGCTGAGTGAAGGGATCTGGAGCTCATCCTAAGCAAAACAAAACAGCTGTTTCCCCAGAAGCAAGTCACAAATGTGGTCTCAGGCCCACCCAGCCCTGCAGGGCCAGCATCTGCATTTCAGCAAGATCTGTGTGAAATGCCTGCACGGTGCTTGTGGAACAGGGTTCCCACTCTCTGGCTCATGGCCATTCCTGCTGCCCGGGGATTGGCCACAACCCTACCCCCAAGCCCCACCTGCCCTCTGTGGCTTGAGATGGGGCTTCTCCCTCACTGCTGTAATGGCAGGCTTCCTGACACACTAGTCCAAACGCAGGCGTGCTGCCCCGTCACGTGCACCTCAGGAAGCTCTTACCATTTCCAGTGGGGCTCAGCGCAAAGGTCACCTCCTCCGAGAGGCTTCCGACCACGCCATGTCATATCATCCCCCGATCCCCAGAGACACATGACCCTCCCGGCATGATCCACCATCTGAAGCTGATGACATGCATCTTGTCTGACTTCCCATTAAAACAAAGCTCCATGAGGACAGGGACCACACTGCGTCATCCATCCTAGGCCAGGCACGGGGCAGGAGCTCGGCCAACGCCAGGGGTGTCATGGGTTACACCCGACACTAGTTTCCAAACAGACCCGAAGAGCCTCAGGGCACACAAACGGTTGGAACTCAGCCATTATCCACCAGCTGCCGTAAGACGTGTGAGAAAAAGCCGGCCAAAGAGCTTACCACAAAATGCAGCAATTCATTCCATCAGCCAGCGGCAAAGGATCTTAGAAAATAAAGCTGTGCTCATCAGTGGCTCTCCCGCAGCAAAGAGAAGAGCGCGGCGTCCGCGCTTCCCCAAAAGGGAATTCTGGCTTTGCACCCGGCAGGCAGGAGAGCGGAACATCCGACACCAGGCAAGGCCGGCCCGGCTCTGTGTGGGGAGTGTGGGAGTGTCACACCAGTTTTAGGCTCAATCTGCACACAGGAGTCGAGCTTTGTTTTTGTGTGTTTAAGACAGAGTCTCACTCCGTCGCCCAGGCTGGAGCGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGACTCCACCTCCTGAGTAACTTGGATTACAGGCGCCCGCCACCACGCCCCGCTAATTTTTGTATTTCCAGTAGAGACAGGGTTTCACCATATGGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGTCCACCTTGGCCTCCCAAAGGGCTGCGATTATAGGCACGAGCCACCGTGCCCGGCCCAGCTTTAGTTTTTGAGCTAAGACCAGCAGGCAAGAAAGAGCAGCTGGCCAGGCAGGGCGCCCAGAGAGGTTCCTTCCCAGGTGAAATGCCCACTTCACAGACAGAGCTGCGATGCCTGTAGCTCCATCCCGGAAGCTGTGTATCAGATGCCACCAGCGCCCACGGGGGATATTCTCATCCCAGGGCTACAGTGGGATTATCTTCTCCCCTCATTAGCTGAGCGGGATAGAAAATAAAACCCCGAAGCTATAGCTTACAGGACACGCAACTCCGCAGAAGCAATGCGAGGAACCCCACCCAGAAAAGCCAAAGCCACCTCGTACCCGTCCCCAGGACTCACTTCCCGGGGACTTACCAGCTCCACCAGGAAGGCAGGGACCACTCCGCCCGCTTTGGAGAAGGCCCAGGGGAAGTTGAGCAGGCCAGCTCCCAGCGCGGACTTCATGAGGATGAAGACAGCGCCCATCGAGGACAGAGTGGCAGCAGCCGTGGCAGGGTGAGGCTTTTCTGGAAGGCCCCTGCTTCCTGGGGTCTGTCCCTCCATGGCTAGAGGCGGCAGAGGGGTGGAGAGAAAGCACAGTCTTCACGCTTTCCTCCCTAAGTTCTCGATATCCTTATTTGTCTCCCCAACTCAGTGAGAGCTCCCTGAGCCGCTCCTGCCCGCTTCCTTGGCGTCAGCTCCCCCTTTCCAAAGGGTGCTGCATGCATCTGCCCACGACTTCTAGTCCCCCTTCGTCTCCCATTCCCTACCCACATTATTCTCACTCCTGCCCTCCCACTAGACCCCAAGGCAACCTCACCCCTTCCCCCTCCCTCTCTTCTCCCAAACCCCCAACCTTCCTCATCCCCATCAATCCTCTCTCCCCCCATTCCCATCCACTCCCTTTGCTTCCAGCCAAACTTCTGTACAAACAGACCCCCAGTTCCTGGTCCTTACCACCAAATCCAACTTTTAAGGTGCCGGACAGTCTTTGGCTGTTGGGGATGGGACTCGGGCTTACTCCAGGTGGCTCAGTTGCATTTCTTGGGGCCAGAGGGGTGGGAGAAGCAAGATTCGAGCTTGGCCAGGGGTGAGTGAGTCATTAACTAAAGGAGCCCTAGCGAGTATGTGTCAGGGTCAGGCCCCTCCACACCTAAGAGGACAGCAACAAGTGGTCAGGGCCATGGGTCCCAAGAATTTGCAGCTTTTGAGACTTCTGACCTGAGCAAGGAAGGCTTAAGACTCCCGCCTCTCCCCAGCCCCCTGCAGGCCCGGCCCCGGGGGTGGAGCTTTCTCAGCTGCCCTGGAGGGTGACAGGGAGCTCAGCTGGGAGCCACACGGGGCAGGGGAGCAGGCACCATGATCTCATGGCAGCTTCTGCAGCGCCTCCATCCTCACATACCTCTCCAAGGTCCCCAGCCCAACGGAGGGGGCGTGAAAAGTGCCCTGAGCCCAGCCTCCTCCTCTGCAGAACAGGCTCCACCGTCCGCAGGTGCTGCCTCCTAGGTGGTTTCCTTTACCTCCTCCACCCAACTCCAGCAGGTGCGTCTCAGAGCTAATCCCATGCACACGAGTCACCTGAGACGGGGCTTGTTGAACGCTTGGGGGAGGCGGCGGCTGCTGGTCCCTAGGCCACGCTTGAGTGATGACACATCTCTCCAAACTGATACGGGGTCAGCTAAGGGGACAGAATATCGGAGACGGCCCCATTCCGGAAAATGCTGGCACATGCAGCTCAGATCCGGAATTTGACTGTTTATTCCTGGAACCCAGGCTCCCTCTCACCCGCATTCTCGAACTCCAGTTTGCATCAGAATCCACTGGAAGGCTTGTTCAAACACAGAACACCAGGCCCCAGCCCCTGTTTCTGACTGAGTGTCTCCGGGGCGGGGTCTGGGCACCTGCCTTTCTAACGGGTTCCCAGGTGACTCCAATGCCGCTGGTTCGGCCCCTCGCTGAGAAGCACTGCTTTCAGTTAAATATCCTCAATGCCCAGAACCCCTCCCCCCGCTGCATCTAATCAGTCCTTATCTGTCCGACACCAGATCAGCCCCAAAGGCTTCTTTTTGATGTGGTTTCTAATGGTCTCAACCCCCGACTCCTGTTACCTCCTGATGAGCAGGCAGGTTCCAAACTCTGTGGCTCACACAATGGCTGCTCCATAAATGCCCAACCAGCAGAGTCAGTGGCTGGCTTCTCAGCAGGGGCAAGTGAAAGGGAGCCGGGATTGCAGTCCCGGAGCTCAAGGCTGGACAATGACCCGGATGACATTCACGCCACTGCTGCATAAATGTGCTGCTGAGAACCTAGCCTGGATGAGTTCACGCGGATTCCTGAGCGGGTGTCCCCACTGTTCCCCCCAACTCCCACCCCGCACCAAGCAGGAACTCGGCTCAGGCAGGTGGAGCACGTGGCTCAGAGCATCACAGCTGGCAAGCAACAAGGCTGGGATTCACCCTGAGTCAGGCTCCTTTCAGAGGCTGTAATGTCACACGGCCTCCTGCCCCACAAGGACTC
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TCAAGGTGGTATGGCCCTAGACTGTTTTCATCAAATGGCACTAAACCGCCAACCCTAACGCGTCAGGCTTCCAACCTCTGCCCACTGACTTCACATTTAAACGCTCCCCATGCAGAAGCCTCACCAGCTAAGTGGAGGATAGCAGCCTCCCCCAAATCTTCCATCATTCACAGTGACATCACTCCAGCCCCAACTCCATCTCCCCGGTAGCCCTGGAGGCTAAAAGGAACAACTTGGGGTGGCGGGAGCGTGTCAAGAGCCAGGCTGGCTCCTCTGCTCTGCCATGAGTTTCCATTTATTCACCTCAGGGTTCCCTTCTCCTCAAGTCTGCTGAGTGAAGGGATCTGGAGCTCATCCTAAGCAAAACAAAACAGCTGTTTCCCCAGAAGCAAGTCACAAATGTGGTCTCAGGCCCACCCAGCCCTGCAGGGCCAGCATCTGCATTTCAGCAAGATCTGTGTGAAATGCCTGCACGGTGCTTGTGGAACAGGGTTCCCACTCTCTGGCTCATGGCCATTCCTGCTGCCCGGGGATTGGCCACAACCCTACCCCCAAGCCCCACCTGCCCTCTGTGGCTTGAGATGGGGCTTCTCCCTCACTGCTGTAATGGCAGGCTTCCTGACACACTAGTCCAAACGCAGGCGTGCTGCCCCGTCACGTGCACCTCAGGAAGCTCTTACCATTTCCAGTGGGGCTCAGCGCAAAGGTCACCTCCTCCGAGAGGCTTCCGACCACGCCATGTCATATCATCCCCCGATCCCCAGAGACACATGACCCTCCCGGCATGATCCACCATCTGAAGCTGATGACATGCATCTTGTCTGACTTCCCATTAAAACAAAGCTCCATGAGGACAGGGACCACACTGCGTCATCCATCCTAGGCCAGGCACGGGGCAGGAGCTCGGCCAACGCCAGGGGTGTCATGGGTTACACCCGACACTAGTTTCCAAACAGACCCGAAGAGCCTCAGGGCACACAAACGGTTGGAACTCAGCCATTATCCACCAGCTGCCGTAAGACGTGTGAGAAAAAGCCGGCCAAAGAGCTTACCACAAAATGCAGCAATTCATTCCATCAGCCAGCGGCAAAGGATCTTAGAAAATAAAGCTGTGCTCATCAGTGGCTCTCCCGCAGCAAAGAGAAGAGCGCGGCGTCCGCGCTTCCCCAAAAGGGAATTCTGGCTTTGCACCCGGCAGGCAGGAGAGCGGAACATCCGACACCAGGCAAGGCCGGCCCGGCTCTGTGTGGGGAGTGTGGGAGTGTCACACCAGTTTTAGGCTCAATCTGCACACAGGAGTCGAGCTTTGTTTTTGTGTGTTTAAGACAGAGTCTCACTCCGTCGCCCAGGCTGGAGCGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGACTCCACCTCCTGAGTAACTTGGATTACAGGCGCCCGCCACCACGCCCCGCTAATTTTTGTATTTCCAGTAGAGACAGGGTTTCACCATATGGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGTCCACCTTGGCCTCCCAAAGGGCTGCGATTATAGGCACGAGCCACCGTGCCCGGCCCAGCTTTAGTTTTTGAGCTAAGACCAGCAGGCAAGAAAGAGCAGCTGGCCAGGCAGGGCGCCCAGAGAGGTTCCTTCCCAGGTGAAATGCCCACTTCACAGACAGAGCTGCGATGCCTGTAGCTCCATCCCGGAAGCTGTGTATCAGATGCCACCAGCGCCCACGGGGGATATTCTCATCCCAGGGCTACAGTGGGATTATCTTCTCCCCTCATTAGCTGAGCGGGATAGAAAATAAAACCCCGAAGCTATAGCTTACAGGACACGCAACTCCGCAGAAGCAATGCGAGGAACCCCACCCAGAAAAGCCAAAGCCACCTCGTACCCGTCCCCAGGACTCACTTCCCGGGGACTTACCAGCTCCACCAGGAAGGCAGGGACCACTCCGCCCGCTTTGGAGAAGGCCCAGGGGAAGTTGAGCAGGCCAGCTCCCAGCGCGGACTTCATGAGGCTGAAGACAGCGCCCATCGAGGACAGAGTGGCAGCAGCCGTGGCAGGGTGAGGCTTTTCTGGAAGGCCCCTGCTTCCTGGGGTCTGTCCCTCCATGGCTAGAGGCGGCAGAGGGGTGGAGAGAAAGCACAGTCTTCACGCTTTCCTCCCTAAGTTCTCGATATCCTTATTTGTCTCCCCAACTCAGTGAGAGCTCCCTGAGCCGCTCCTGCCCGCTTCCTTGGCGTCAGCTCCCCCTTTCCAAAGGGTGCTGCATGCATCTGCCCACGACTTCTAGTCCCCCTTCGTCTCCCATTCCCTACCCACATTATTCTCACTCCTGCCCTCCCACTAGACCCCAAGGCAACCTCACCCCTTCCCCCTCCCTCTCTTCTCCCAAACCCCCAACCTTCCTCATCCCCATCAATCCTCTCTCCCCCCATTCCCATCCACTCCCTTTGCTTCCAGCCAAACTTCTGTACAAACAGACCCCCAGTTCCTGGTCCTTACCACCAAATCCAACTTTTAAGGTGCCGGACAGTCTTTGGCTGTTGGGGATGGGACTCGGGCTTACTCCAGGTGGCTCAGTTGCATTTCTTGGGGCCAGAGGGGTGGGAGAAGCAAGATTCGAGCTTGGCCAGGGGTGAGTGAGTCATTAACTAAAGGAGCCCTAGCGAGTATGTGTCAGGGTCAGGCCCCTCCACACCTAAGAGGACAGCAACAAGTGGTCAGGGCCATGGGTCCCAAGAATTTGCAGCTTTTGAGACTTCTGACCTGAGCAAGGAAGGCTTAAGACTCCCGCCTCTCCCCAGCCCCCTGCAGGCCCGGCCCCGGGGGTGGAGCTTTCTCAGCTGCCCTGGAGGGTGACAGGGAGCTCAGCTGGGAGCCACACGGGGCAGGGGAGCAGGCACCATGATCTCATGGCAGCTTCTGCAGCGCCTCCATCCTCACATACCTCTCCAAGGTCCCCAGCCCAACGGAGGGGGCGTGAAAAGTGCCCTGAGCCCAGCCTCCTCCTCTGCAGAACAGGCTCCACCGTCCGCAGGTGCTGCCTCCTAGGTGGTTTCCTTTACCTCCTCCACCCAACTCCAGCAGGTGCGTCTCAGAGCTAATCCCATGCACACGAGTCACCTGAGACGGGGCTTGTTGAACGCTTGGGGGAGGCGGCGGCTGCTGGTCCCTAGGCCACGCTTGAGTGATGACACATCTCTCCAAACTGATACGGGGTCAGCTAAGGGGACAGAATATCGGAGACGGCCCCATTCCGGAAAATGCTGGCACATGCAGCTCAGATCCGGAATTTGACTGTTTATTCCTGGAACCCAGGCTCCCTCTCACCCGCATTCTCGAACTCCAGTTTGCATCAGAATCCACTGGAAGGCTTGTTCAAACACAGAACACCAGGCCCCAGCCCCTGTTTCTGACTGAGTGTCTCCGGGGCGGGGTCTGGGCACCTGCCTTTCTAACGGGTTCCCAGGTGACTCCAATGCCGCTGGTTCGGCCCCTCGCTGAGAAGCACTGCTTTCAGTTAAATATCCTCAATGCCCAGAACCCCTCCCCCCGCTGCATCTAATCAGTCCTTATCTGTCCGACACCAGATCAGCCCCAAAGGCTTCTTTTTGATGTGGTTTCTAATGGTCTCAACCCCCGACTCCTGTTACCTCCTGATGAGCAGGCAGGTTCCAAACTCTGTGGCTCACACAATGGCTGCTCCATAAATGCCCAACCAGCAGAGTCAGTGGCTGGCTTCTCAGCAGGGGCAAGTGAAAGGGAGCCGGGATTGCAGTCCCGGAGCTCAAGGCTGGACAATGACCCGGATGACATTCACGCCACTGCTGCATAAATGTGCTGCTGAGAACCTAGCCTGGATGAGTTCACGCGGATTCCTGAGCGGGTGTCCCCACTGTTCCCCCCAACTCCCACCCCGCACCAAGCAGGAACTCGGCTCAGGCAGGTGGAGCACGTGGCTCAGAGCATCACAGCTGGCAAGCAACAAGGCTGGGATTCACCCTGAGTCAGGCTCCTTTCAGAGGCTGTAATGTCACACGGCCTCCTGCCCCACAAGGACTC
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Task1_train_22968
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A sequence alteration has been identified in MBTPS1 (membrane bound transcription factor peptidase, site 1) on Chromosome 16. Is it disease-inducing or harmless?
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Pathogenic; Spondyloepiphyseal dysplasia, kondo-fu type
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TGAGCCCAGGAGTTCCAGACTAGCCTGGGCTACACAGTAAGACCCCCATCTCCACAAAAAATACAAAAATTAGCCAGATGTAGTGGCACAAGCCTGTAGTCCCGGCTACTCAGGAGGATCACCTGAGCCCGGGAGGTCAAGGCTGCAGGGAGCCGTGATTGTGCCACTGCACTCCAGCCTGGGCAACACAGTGAGATCCTGTCCCCCTCAGCCCCGCACCCGCCCCCCCCCCAAAAAAAAAGAGAAAAAAACAAAGAAATTCACTACAATACAGAAAATAAGCTTAAACGATAATGTAGAAAGTAAATTTTTAAAAATATATTTTATAACAACCAGAACAATGGCAAAGGCATAAAGCAATTAAAAGATAAGTATTTTAATTTTGCTGACATGCCAGACTGGAAAGTGGACACTGGCTTATCACCAAGACCAGAAACTGGAAACTGCTTTATCTCTAGATAAGTTAAAATTAGAAATATGTTAGAAAAATTAGAAAATTAAAATGTAAAAAAACCCAAACATGTTTCTTTACAAGGAAAAAAGTACACGGTATGAGTGGATGTTTCAAACGGTTGTAAAAGAGGAAATAAGAAACCACTGAGAAGGAACAAGATAACCACACGACTAACTTGGGATAACGTTTTAATAAGTACTTGCTTAAGCTTCTTAAGAATTGGGGCAAAACGAAAATTAGAATAGGATCTCATATTCTGTCAGAAAACAGGAGCCCAATTTGAAGGGAAGCCCTTTTCTGACCATCAAACCCAAGGACCATGGATGCACATACTGGGATACCGAGTAAAGGCATCCTCCACTGCAGCTGTGATGATGGAAGGACATTTCTCAAATGCCATTAAAAAGCTGGCTGGTGATGAAGGCCATGGACGTGACATCTCATCACGGTTTGGTGAAAGCGTTTACACGGGGAGCTGGGGACAAAGTGGATGACATCTCACCACAGTTCGGTGAGAGCATTTACACAGGGAGCTGGGGACAAAGTGGTGGATGCAGTTTCCCATTATCCGGCAGCACAAGGAACATGCTGAGGGAGCGTGGATGGGAGGACACGCAGCCTGCCCTGCACAGACTGTCACATGAGAGAATGGTCCCCAGCCAACAGGTCAGCTCCAGGAAGAGGCACGTGAGTGTGGGAGGCGGGGACCCCTGGTGGGGCTGAGTGGCGGGGACGCTGGGGGCTGACGCTGTCACAGGACAAAGGCTCAGGCAGAAGGCTATCCTGTAAAGTGGCTACAGTGTGGACGAGGCCCACAGTGTTCCCAGGCAGTTGGGAATCTTTCCAGGGACTTATCTGAGGCCTCCGAGTGTGGCATGTGACGTTAAACACCAAGAGATGCTCTGACCCTGAAGAATGAGAAGGGCAGATGCTCCCCTCGGCCACAGCGAGGGCAAAGGTGCCCAACTGCTGTTCTGCACGAGCGTCTAATTTTTCATCAAACTTTGACAGGTAAAGGTGGGTGAATGTGCTGCATAATTAAACCCCAAACAGCTGAATTATTAACTGTAGCAGTTATTTTGAATTTGTCCAGCTAAATACAATTGTTTCTGTGTTAGCAGAGTTGATATTAAGCTGTTCTCAATGGTTTCTCCAACTTCTTAAGGCTCCCCTCCCCCAAAAAATATCATCTCACCTACCACTGAGGAGGACTGCTTACCACTACTAGATAGGGTAAACGGGCAGGAACCCAATTCACCTAAAGGTGAGTTCCTCAGAAATCAATTAATAAGTTAAACTGGGAAACACCGCTTAGAATCAGCCGGTGCTCATCACAGCAGCTGTGGACTTGCCAGAGTGAAGTGGCAGATGCTGACGGGGCCCAGATCTCTCGTCCTCACGGCTGGGCAGGCACTCACAGCCCCGGCTATTCCCATGTGAATGTGAGGGTGTCTGTGCACTTACAAATACACCCCAAGGCTCGTCAACAACCGGTGCCACTAGCCACAGTAGTTTGTCCAGCTAAATACAATTATTTAGCAAAGAAGAGCGTACCCAGGTAGTCATTCCCCTTGAAGAAAAGCGGGCGATGTTATCTTCAAAGTCAATGCCGCCTACTCCAATCACATCCATTTGATCAGCAGGGTTATTCAGAGTGCTATATTGAGACCAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAACAAGAGAAATAATTTAAAATGGATGATTCAAACCAGGGCGAATACTCCCAGAACAATCTAACACTGTATGAGCTGCTTCTGTGGGAAGACGTGTGCAGCTCCTCACGGCTGTCCTGTGAAACGCATGATCCTGCCACGTTCATGCTGTGCTCACATTACGCCCTCTCACCTGCAACGCCCCTCCTTTCTTCTCCTCCCTGTCAACTTGGCACACTGGGGCTCAAGGCTCACGTTTTCCCTCCAGCAATCCAAGCCTTAAGCATCTGTACTTGCCTTGAACCTCACAACACTTAACACAATCACAATTTATCACCTAACGACACATTCTCACATCACTTTCAAATTGTTCCCAGCACATTCATCTTAACTCCCCAGCTAAATCACACACTTCTCCTGGAAGAAACCATAACCACACATTTACATCTGCCAAGGTCAGGAAGTGGTAAGTTTTCGATTGACCTGTGGTGGTGTTCTACCCTCCTCATAGGGAACTGTAGAAGGACTATCATTACTCTGTAATCTTGAGCTCCTTAGAGTCTCTCCAATACCTTAAGTGCACTAGATCTGCAAAGAAATTATAGTGAAATAAATAATGGCAAAAATGTGTAAACCGTAAAGTCAAGATAAAGATGAACCATTTGAAAATATGAGACACTCAGTTATAAAACTGCATTGCTAAGCTTTATTATGGCTCCACTACCAAAAAAAATGAACTCTTTGACAAATCAACAACTACATACAACTGATTCCAAGTGGCTTAAGAGATAATAGCAGCATGAAGTTCTCCTTCTAGAGTGTGTTTTTAACTGACAATTCCCAACACACCGAGAAAAAGTGGTACTGCCTCCTCAGCCCACTGGCCACCAATATCCTACCAGCTGGTCATTCAGAGGAACGAATAATGATTTTCTGATGACTGATGCTAGATGTTTACACATTCCCAGGAACTCAAGGAGCAGAGGCTGGTACAGAAGTCACTGACAGAAACTCCCACTGAAGTTGACCAAAAAAATACCACCTTCCCACCCTCCTCTACCTGCTAAGCCCTATAATGCTTAGTGTACTTTAAACCCTTAAAAAATAAGGGAACGCATCAAGAAATCATTGCTGGTATTGAAAAGGAGGGACGTGAGGCTGCAGGCTTGCTGGCACCACAGAGTCTAGGAGCACCAAGGGCACAGGACCCAGACAAAGAGACCACAGCAAAGGGGACCGGAGGATGTGTGCCTCATTCCCAGAGGGGCTGACGTATGCATGTTACTGTCCTCAGACCAGCCCTGGAAGCAGTCCCACCAGATGCCCAAGCAGAAAAAACCACACCCACCACAAGCTGGGCTGCCGTGATCACATGCCACGTTCTGTCACTTCAACAGCCAGCAGGTGGCCAGGTCTGTGTGAGGCAGCATGAGCGTACACACAAGGTGGAGATGGGGCCTTCCTGGCAAGGCTCTGCTCCTTCAACACACCATAAACTCACAACTCTGGTAAGAAGCTACGGAGTGCAACCACCCACAAAAGCCACAGGGTTTCAGAACGGCAGCCAGCGTGTGACAAAACAGTCCGAACAGCATGCGAAAGAGCTGGGAATCCAGACAGGTATGGCCAGGAGGATGGGCAGAGGGATGGGGTGCGGAAGACCTGAGAGAAACAGAAGGAGGACACTCATTCCAGGAAGGTGTACATGGGGAAGTGGAAGATCAAGGTGAACTGAGATTGTGGCTGGAGTTGGCCAACTACGGCCCATGGGCCAAACCAGGCCCACACCTGTTTTTGCAAATACAGCGTTCCTGGAACACAGTCATGTTCATTTACACATATATCACCCGCAGCTGCTTTCACACAATAACGCCTAAAATATTTATTATCTGACCCTTTACAGAAAAAGTTTGCAATTCAGCCTAGAATACTGAAGACCTTGAAAAACAAAAGAAAAATGTG
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TGAGCCCAGGAGTTCCAGACTAGCCTGGGCTACACAGTAAGACCCCCATCTCCACAAAAAATACAAAAATTAGCCAGATGTAGTGGCACAAGCCTGTAGTCCCGGCTACTCAGGAGGATCACCTGAGCCCGGGAGGTCAAGGCTGCAGGGAGCCGTGATTGTGCCACTGCACTCCAGCCTGGGCAACACAGTGAGATCCTGTCCCCCTCAGCCCCGCACCCGCCCCCCCCCCAAAAAAAAAGAGAAAAAAACAAAGAAATTCACTACAATACAGAAAATAAGCTTAAACGATAATGTAGAAAGTAAATTTTTAAAAATATATTTTATAACAACCAGAACAATGGCAAAGGCATAAAGCAATTAAAAGATAAGTATTTTAATTTTGCTGACATGCCAGACTGGAAAGTGGACACTGGCTTATCACCAAGACCAGAAACTGGAAACTGCTTTATCTCTAGATAAGTTAAAATTAGAAATATGTTAGAAAAATTAGAAAATTAAAATGTAAAAAAACCCAAACATGTTTCTTTACAAGGAAAAAAGTACACGGTATGAGTGGATGTTTCAAACGGTTGTAAAAGAGGAAATAAGAAACCACTGAGAAGGAACAAGATAACCACACGACTAACTTGGGATAACGTTTTAATAAGTACTTGCTTAAGCTTCTTAAGAATTGGGGCAAAACGAAAATTAGAATAGGATCTCATATTCTGTCAGAAAACAGGAGCCCAATTTGAAGGGAAGCCCTTTTCTGACCATCAAACCCAAGGACCATGGATGCACATACTGGGATACCGAGTAAAGGCATCCTCCACTGCAGCTGTGATGATGGAAGGACATTTCTCAAATGCCATTAAAAAGCTGGCTGGTGATGAAGGCCATGGACGTGACATCTCATCACGGTTTGGTGAAAGCGTTTACACGGGGAGCTGGGGACAAAGTGGATGACATCTCACCACAGTTCGGTGAGAGCATTTACACAGGGAGCTGGGGACAAAGTGGTGGATGCAGTTTCCCATTATCCGGCAGCACAAGGAACATGCTGAGGGAGCGTGGATGGGAGGACACGCAGCCTGCCCTGCACAGACTGTCACATGAGAGAATGGTCCCCAGCCAACAGGTCAGCTCCAGGAAGAGGCACGTGAGTGTGGGAGGCGGGGACCCCTGGTGGGGCTGAGTGGCGGGGACGCTGGGGGCTGACGCTGTCACAGGACAAAGGCTCAGGCAGAAGGCTATCCTGTAAAGTGGCTACAGTGTGGACGAGGCCCACAGTGTTCCCAGGCAGTTGGGAATCTTTCCAGGGACTTATCTGAGGCCTCCGAGTGTGGCATGTGACGTTAAACACCAAGAGATGCTCTGACCCTGAAGAATGAGAAGGGCAGATGCTCCCCTCGGCCACAGCGAGGGCAAAGGTGCCCAACTGCTGTTCTGCACGAGCGTCTAATTTTTCATCAAACTTTGACAGGTAAAGGTGGGTGAATGTGCTGCATAATTAAACCCCAAACAGCTGAATTATTAACTGTAGCAGTTATTTTGAATTTGTCCAGCTAAATACAATTGTTTCTGTGTTAGCAGAGTTGATATTAAGCTGTTCTCAATGGTTTCTCCAACTTCTTAAGGCTCCCCTCCCCCAAAAAATATCATCTCACCTACCACTGAGGAGGACTGCTTACCACTACTAGATAGGGTAAACGGGCAGGAACCCAATTCACCTAAAGGTGAGTTCCTCAGAAATCAATTAATAAGTTAAACTGGGAAACACCGCTTAGAATCAGCCGGTGCTCATCACAGCAGCTGTGGACTTGCCAGAGTGAAGTGGCAGATGCTGACGGGGCCCAGATCTCTCGTCCTCACGGCTGGGCAGGCACTCACAGCCCCGGCTATTCCCATGTGAATGTGAGGGTGTCTGTGCACTTACAAATACACCCCAAGGCTCGTCAACAACCGGTGCCACTAGCCACAGTAGTTTGTCCAGCTAAATACAATTATTTAGCAAAGAAGAGCGTACCCAGGTAGTCATTCCCCTTGAAGAAAAGCGGGCGATGTTACCTTCAAAGTCAATGCCGCCTACTCCAATCACATCCATTTGATCAGCAGGGTTATTCAGAGTGCTATATTGAGACCAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAACAAGAGAAATAATTTAAAATGGATGATTCAAACCAGGGCGAATACTCCCAGAACAATCTAACACTGTATGAGCTGCTTCTGTGGGAAGACGTGTGCAGCTCCTCACGGCTGTCCTGTGAAACGCATGATCCTGCCACGTTCATGCTGTGCTCACATTACGCCCTCTCACCTGCAACGCCCCTCCTTTCTTCTCCTCCCTGTCAACTTGGCACACTGGGGCTCAAGGCTCACGTTTTCCCTCCAGCAATCCAAGCCTTAAGCATCTGTACTTGCCTTGAACCTCACAACACTTAACACAATCACAATTTATCACCTAACGACACATTCTCACATCACTTTCAAATTGTTCCCAGCACATTCATCTTAACTCCCCAGCTAAATCACACACTTCTCCTGGAAGAAACCATAACCACACATTTACATCTGCCAAGGTCAGGAAGTGGTAAGTTTTCGATTGACCTGTGGTGGTGTTCTACCCTCCTCATAGGGAACTGTAGAAGGACTATCATTACTCTGTAATCTTGAGCTCCTTAGAGTCTCTCCAATACCTTAAGTGCACTAGATCTGCAAAGAAATTATAGTGAAATAAATAATGGCAAAAATGTGTAAACCGTAAAGTCAAGATAAAGATGAACCATTTGAAAATATGAGACACTCAGTTATAAAACTGCATTGCTAAGCTTTATTATGGCTCCACTACCAAAAAAAATGAACTCTTTGACAAATCAACAACTACATACAACTGATTCCAAGTGGCTTAAGAGATAATAGCAGCATGAAGTTCTCCTTCTAGAGTGTGTTTTTAACTGACAATTCCCAACACACCGAGAAAAAGTGGTACTGCCTCCTCAGCCCACTGGCCACCAATATCCTACCAGCTGGTCATTCAGAGGAACGAATAATGATTTTCTGATGACTGATGCTAGATGTTTACACATTCCCAGGAACTCAAGGAGCAGAGGCTGGTACAGAAGTCACTGACAGAAACTCCCACTGAAGTTGACCAAAAAAATACCACCTTCCCACCCTCCTCTACCTGCTAAGCCCTATAATGCTTAGTGTACTTTAAACCCTTAAAAAATAAGGGAACGCATCAAGAAATCATTGCTGGTATTGAAAAGGAGGGACGTGAGGCTGCAGGCTTGCTGGCACCACAGAGTCTAGGAGCACCAAGGGCACAGGACCCAGACAAAGAGACCACAGCAAAGGGGACCGGAGGATGTGTGCCTCATTCCCAGAGGGGCTGACGTATGCATGTTACTGTCCTCAGACCAGCCCTGGAAGCAGTCCCACCAGATGCCCAAGCAGAAAAAACCACACCCACCACAAGCTGGGCTGCCGTGATCACATGCCACGTTCTGTCACTTCAACAGCCAGCAGGTGGCCAGGTCTGTGTGAGGCAGCATGAGCGTACACACAAGGTGGAGATGGGGCCTTCCTGGCAAGGCTCTGCTCCTTCAACACACCATAAACTCACAACTCTGGTAAGAAGCTACGGAGTGCAACCACCCACAAAAGCCACAGGGTTTCAGAACGGCAGCCAGCGTGTGACAAAACAGTCCGAACAGCATGCGAAAGAGCTGGGAATCCAGACAGGTATGGCCAGGAGGATGGGCAGAGGGATGGGGTGCGGAAGACCTGAGAGAAACAGAAGGAGGACACTCATTCCAGGAAGGTGTACATGGGGAAGTGGAAGATCAAGGTGAACTGAGATTGTGGCTGGAGTTGGCCAACTACGGCCCATGGGCCAAACCAGGCCCACACCTGTTTTTGCAAATACAGCGTTCCTGGAACACAGTCATGTTCATTTACACATATATCACCCGCAGCTGCTTTCACACAATAACGCCTAAAATATTTATTATCTGACCCTTTACAGAAAAAGTTTGCAATTCAGCCTAGAATACTGAAGACCTTGAAAAACAAAAGAAAAATGTG
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Task1_train_22969
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Here is a genetic alteration in MBTPS1 (membrane bound transcription factor peptidase, site 1) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Spondyloepiphyseal dysplasia, kondo-fu type
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TACACAGTAAGACCCCCATCTCCACAAAAAATACAAAAATTAGCCAGATGTAGTGGCACAAGCCTGTAGTCCCGGCTACTCAGGAGGATCACCTGAGCCCGGGAGGTCAAGGCTGCAGGGAGCCGTGATTGTGCCACTGCACTCCAGCCTGGGCAACACAGTGAGATCCTGTCCCCCTCAGCCCCGCACCCGCCCCCCCCCCAAAAAAAAAGAGAAAAAAACAAAGAAATTCACTACAATACAGAAAATAAGCTTAAACGATAATGTAGAAAGTAAATTTTTAAAAATATATTTTATAACAACCAGAACAATGGCAAAGGCATAAAGCAATTAAAAGATAAGTATTTTAATTTTGCTGACATGCCAGACTGGAAAGTGGACACTGGCTTATCACCAAGACCAGAAACTGGAAACTGCTTTATCTCTAGATAAGTTAAAATTAGAAATATGTTAGAAAAATTAGAAAATTAAAATGTAAAAAAACCCAAACATGTTTCTTTACAAGGAAAAAAGTACACGGTATGAGTGGATGTTTCAAACGGTTGTAAAAGAGGAAATAAGAAACCACTGAGAAGGAACAAGATAACCACACGACTAACTTGGGATAACGTTTTAATAAGTACTTGCTTAAGCTTCTTAAGAATTGGGGCAAAACGAAAATTAGAATAGGATCTCATATTCTGTCAGAAAACAGGAGCCCAATTTGAAGGGAAGCCCTTTTCTGACCATCAAACCCAAGGACCATGGATGCACATACTGGGATACCGAGTAAAGGCATCCTCCACTGCAGCTGTGATGATGGAAGGACATTTCTCAAATGCCATTAAAAAGCTGGCTGGTGATGAAGGCCATGGACGTGACATCTCATCACGGTTTGGTGAAAGCGTTTACACGGGGAGCTGGGGACAAAGTGGATGACATCTCACCACAGTTCGGTGAGAGCATTTACACAGGGAGCTGGGGACAAAGTGGTGGATGCAGTTTCCCATTATCCGGCAGCACAAGGAACATGCTGAGGGAGCGTGGATGGGAGGACACGCAGCCTGCCCTGCACAGACTGTCACATGAGAGAATGGTCCCCAGCCAACAGGTCAGCTCCAGGAAGAGGCACGTGAGTGTGGGAGGCGGGGACCCCTGGTGGGGCTGAGTGGCGGGGACGCTGGGGGCTGACGCTGTCACAGGACAAAGGCTCAGGCAGAAGGCTATCCTGTAAAGTGGCTACAGTGTGGACGAGGCCCACAGTGTTCCCAGGCAGTTGGGAATCTTTCCAGGGACTTATCTGAGGCCTCCGAGTGTGGCATGTGACGTTAAACACCAAGAGATGCTCTGACCCTGAAGAATGAGAAGGGCAGATGCTCCCCTCGGCCACAGCGAGGGCAAAGGTGCCCAACTGCTGTTCTGCACGAGCGTCTAATTTTTCATCAAACTTTGACAGGTAAAGGTGGGTGAATGTGCTGCATAATTAAACCCCAAACAGCTGAATTATTAACTGTAGCAGTTATTTTGAATTTGTCCAGCTAAATACAATTGTTTCTGTGTTAGCAGAGTTGATATTAAGCTGTTCTCAATGGTTTCTCCAACTTCTTAAGGCTCCCCTCCCCCAAAAAATATCATCTCACCTACCACTGAGGAGGACTGCTTACCACTACTAGATAGGGTAAACGGGCAGGAACCCAATTCACCTAAAGGTGAGTTCCTCAGAAATCAATTAATAAGTTAAACTGGGAAACACCGCTTAGAATCAGCCGGTGCTCATCACAGCAGCTGTGGACTTGCCAGAGTGAAGTGGCAGATGCTGACGGGGCCCAGATCTCTCGTCCTCACGGCTGGGCAGGCACTCACAGCCCCGGCTATTCCCATGTGAATGTGAGGGTGTCTGTGCACTTACAAATACACCCCAAGGCTCGTCAACAACCGGTGCCACTAGCCACAGTAGTTTGTCCAGCTAAATACAATTATTTAGCAAAGAAGAGCGTACCCAGGTAGTCATTCCCCTTGAAGAAAAGCGGGCGATGTTATCTTCAAAGTCAATGCCGCCTACTCCAATCACATCCATTTGATCAGCAGGGTTATTCAGAGTGCTATATTGAGACCAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAACAAGAGAAATAATTTAAAATGGATGATTCAAACCAGGGCGAATACTCCCAGAACAATCTAACACTGTATGAGCTGCTTCTGTGGGAAGACGTGTGCAGCTCCTCACGGCTGTCCTGTGAAACGCATGATCCTGCCACGTTCATGCTGTGCTCACATTACGCCCTCTCACCTGCAACGCCCCTCCTTTCTTCTCCTCCCTGTCAACTTGGCACACTGGGGCTCAAGGCTCACGTTTTCCCTCCAGCAATCCAAGCCTTAAGCATCTGTACTTGCCTTGAACCTCACAACACTTAACACAATCACAATTTATCACCTAACGACACATTCTCACATCACTTTCAAATTGTTCCCAGCACATTCATCTTAACTCCCCAGCTAAATCACACACTTCTCCTGGAAGAAACCATAACCACACATTTACATCTGCCAAGGTCAGGAAGTGGTAAGTTTTCGATTGACCTGTGGTGGTGTTCTACCCTCCTCATAGGGAACTGTAGAAGGACTATCATTACTCTGTAATCTTGAGCTCCTTAGAGTCTCTCCAATACCTTAAGTGCACTAGATCTGCAAAGAAATTATAGTGAAATAAATAATGGCAAAAATGTGTAAACCGTAAAGTCAAGATAAAGATGAACCATTTGAAAATATGAGACACTCAGTTATAAAACTGCATTGCTAAGCTTTATTATGGCTCCACTACCAAAAAAAATGAACTCTTTGACAAATCAACAACTACATACAACTGATTCCAAGTGGCTTAAGAGATAATAGCAGCATGAAGTTCTCCTTCTAGAGTGTGTTTTTAACTGACAATTCCCAACACACCGAGAAAAAGTGGTACTGCCTCCTCAGCCCACTGGCCACCAATATCCTACCAGCTGGTCATTCAGAGGAACGAATAATGATTTTCTGATGACTGATGCTAGATGTTTACACATTCCCAGGAACTCAAGGAGCAGAGGCTGGTACAGAAGTCACTGACAGAAACTCCCACTGAAGTTGACCAAAAAAATACCACCTTCCCACCCTCCTCTACCTGCTAAGCCCTATAATGCTTAGTGTACTTTAAACCCTTAAAAAATAAGGGAACGCATCAAGAAATCATTGCTGGTATTGAAAAGGAGGGACGTGAGGCTGCAGGCTTGCTGGCACCACAGAGTCTAGGAGCACCAAGGGCACAGGACCCAGACAAAGAGACCACAGCAAAGGGGACCGGAGGATGTGTGCCTCATTCCCAGAGGGGCTGACGTATGCATGTTACTGTCCTCAGACCAGCCCTGGAAGCAGTCCCACCAGATGCCCAAGCAGAAAAAACCACACCCACCACAAGCTGGGCTGCCGTGATCACATGCCACGTTCTGTCACTTCAACAGCCAGCAGGTGGCCAGGTCTGTGTGAGGCAGCATGAGCGTACACACAAGGTGGAGATGGGGCCTTCCTGGCAAGGCTCTGCTCCTTCAACACACCATAAACTCACAACTCTGGTAAGAAGCTACGGAGTGCAACCACCCACAAAAGCCACAGGGTTTCAGAACGGCAGCCAGCGTGTGACAAAACAGTCCGAACAGCATGCGAAAGAGCTGGGAATCCAGACAGGTATGGCCAGGAGGATGGGCAGAGGGATGGGGTGCGGAAGACCTGAGAGAAACAGAAGGAGGACACTCATTCCAGGAAGGTGTACATGGGGAAGTGGAAGATCAAGGTGAACTGAGATTGTGGCTGGAGTTGGCCAACTACGGCCCATGGGCCAAACCAGGCCCACACCTGTTTTTGCAAATACAGCGTTCCTGGAACACAGTCATGTTCATTTACACATATATCACCCGCAGCTGCTTTCACACAATAACGCCTAAAATATTTATTATCTGACCCTTTACAGAAAAAGTTTGCAATTCAGCCTAGAATACTGAAGACCTTGAAAAACAAAAGAAAAATGTGGATTTCATCTATTAGGCAATAATAAACTGC
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TACACAGTAAGACCCCCATCTCCACAAAAAATACAAAAATTAGCCAGATGTAGTGGCACAAGCCTGTAGTCCCGGCTACTCAGGAGGATCACCTGAGCCCGGGAGGTCAAGGCTGCAGGGAGCCGTGATTGTGCCACTGCACTCCAGCCTGGGCAACACAGTGAGATCCTGTCCCCCTCAGCCCCGCACCCGCCCCCCCCCCAAAAAAAAAGAGAAAAAAACAAAGAAATTCACTACAATACAGAAAATAAGCTTAAACGATAATGTAGAAAGTAAATTTTTAAAAATATATTTTATAACAACCAGAACAATGGCAAAGGCATAAAGCAATTAAAAGATAAGTATTTTAATTTTGCTGACATGCCAGACTGGAAAGTGGACACTGGCTTATCACCAAGACCAGAAACTGGAAACTGCTTTATCTCTAGATAAGTTAAAATTAGAAATATGTTAGAAAAATTAGAAAATTAAAATGTAAAAAAACCCAAACATGTTTCTTTACAAGGAAAAAAGTACACGGTATGAGTGGATGTTTCAAACGGTTGTAAAAGAGGAAATAAGAAACCACTGAGAAGGAACAAGATAACCACACGACTAACTTGGGATAACGTTTTAATAAGTACTTGCTTAAGCTTCTTAAGAATTGGGGCAAAACGAAAATTAGAATAGGATCTCATATTCTGTCAGAAAACAGGAGCCCAATTTGAAGGGAAGCCCTTTTCTGACCATCAAACCCAAGGACCATGGATGCACATACTGGGATACCGAGTAAAGGCATCCTCCACTGCAGCTGTGATGATGGAAGGACATTTCTCAAATGCCATTAAAAAGCTGGCTGGTGATGAAGGCCATGGACGTGACATCTCATCACGGTTTGGTGAAAGCGTTTACACGGGGAGCTGGGGACAAAGTGGATGACATCTCACCACAGTTCGGTGAGAGCATTTACACAGGGAGCTGGGGACAAAGTGGTGGATGCAGTTTCCCATTATCCGGCAGCACAAGGAACATGCTGAGGGAGCGTGGATGGGAGGACACGCAGCCTGCCCTGCACAGACTGTCACATGAGAGAATGGTCCCCAGCCAACAGGTCAGCTCCAGGAAGAGGCACGTGAGTGTGGGAGGCGGGGACCCCTGGTGGGGCTGAGTGGCGGGGACGCTGGGGGCTGACGCTGTCACAGGACAAAGGCTCAGGCAGAAGGCTATCCTGTAAAGTGGCTACAGTGTGGACGAGGCCCACAGTGTTCCCAGGCAGTTGGGAATCTTTCCAGGGACTTATCTGAGGCCTCCGAGTGTGGCATGTGACGTTAAACACCAAGAGATGCTCTGACCCTGAAGAATGAGAAGGGCAGATGCTCCCCTCGGCCACAGCGAGGGCAAAGGTGCCCAACTGCTGTTCTGCACGAGCGTCTAATTTTTCATCAAACTTTGACAGGTAAAGGTGGGTGAATGTGCTGCATAATTAAACCCCAAACAGCTGAATTATTAACTGTAGCAGTTATTTTGAATTTGTCCAGCTAAATACAATTGTTTCTGTGTTAGCAGAGTTGATATTAAGCTGTTCTCAATGGTTTCTCCAACTTCTTAAGGCTCCCCTCCCCCAAAAAATATCATCTCACCTACCACTGAGGAGGACTGCTTACCACTACTAGATAGGGTAAACGGGCAGGAACCCAATTCACCTAAAGGTGAGTTCCTCAGAAATCAATTAATAAGTTAAACTGGGAAACACCGCTTAGAATCAGCCGGTGCTCATCACAGCAGCTGTGGACTTGCCAGAGTGAAGTGGCAGATGCTGACGGGGCCCAGATCTCTCGTCCTCACGGCTGGGCAGGCACTCACAGCCCCGGCTATTCCCATGTGAATGTGAGGGTGTCTGTGCACTTACAAATACACCCCAAGGCTCGTCAACAACCGGTGCCACTAGCCACAGTAGTTTGTCCAGCTAAATACAATTATTTAGCAAAGAAGAGCGTACCCAGGTAGTCATTCCCCTTGAAGAAAAGCGGGCGATGTTATCTTCAAAGTCAATGCCGCCTACTCCAATCCCATCCATTTGATCAGCAGGGTTATTCAGAGTGCTATATTGAGACCAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAACAAGAGAAATAATTTAAAATGGATGATTCAAACCAGGGCGAATACTCCCAGAACAATCTAACACTGTATGAGCTGCTTCTGTGGGAAGACGTGTGCAGCTCCTCACGGCTGTCCTGTGAAACGCATGATCCTGCCACGTTCATGCTGTGCTCACATTACGCCCTCTCACCTGCAACGCCCCTCCTTTCTTCTCCTCCCTGTCAACTTGGCACACTGGGGCTCAAGGCTCACGTTTTCCCTCCAGCAATCCAAGCCTTAAGCATCTGTACTTGCCTTGAACCTCACAACACTTAACACAATCACAATTTATCACCTAACGACACATTCTCACATCACTTTCAAATTGTTCCCAGCACATTCATCTTAACTCCCCAGCTAAATCACACACTTCTCCTGGAAGAAACCATAACCACACATTTACATCTGCCAAGGTCAGGAAGTGGTAAGTTTTCGATTGACCTGTGGTGGTGTTCTACCCTCCTCATAGGGAACTGTAGAAGGACTATCATTACTCTGTAATCTTGAGCTCCTTAGAGTCTCTCCAATACCTTAAGTGCACTAGATCTGCAAAGAAATTATAGTGAAATAAATAATGGCAAAAATGTGTAAACCGTAAAGTCAAGATAAAGATGAACCATTTGAAAATATGAGACACTCAGTTATAAAACTGCATTGCTAAGCTTTATTATGGCTCCACTACCAAAAAAAATGAACTCTTTGACAAATCAACAACTACATACAACTGATTCCAAGTGGCTTAAGAGATAATAGCAGCATGAAGTTCTCCTTCTAGAGTGTGTTTTTAACTGACAATTCCCAACACACCGAGAAAAAGTGGTACTGCCTCCTCAGCCCACTGGCCACCAATATCCTACCAGCTGGTCATTCAGAGGAACGAATAATGATTTTCTGATGACTGATGCTAGATGTTTACACATTCCCAGGAACTCAAGGAGCAGAGGCTGGTACAGAAGTCACTGACAGAAACTCCCACTGAAGTTGACCAAAAAAATACCACCTTCCCACCCTCCTCTACCTGCTAAGCCCTATAATGCTTAGTGTACTTTAAACCCTTAAAAAATAAGGGAACGCATCAAGAAATCATTGCTGGTATTGAAAAGGAGGGACGTGAGGCTGCAGGCTTGCTGGCACCACAGAGTCTAGGAGCACCAAGGGCACAGGACCCAGACAAAGAGACCACAGCAAAGGGGACCGGAGGATGTGTGCCTCATTCCCAGAGGGGCTGACGTATGCATGTTACTGTCCTCAGACCAGCCCTGGAAGCAGTCCCACCAGATGCCCAAGCAGAAAAAACCACACCCACCACAAGCTGGGCTGCCGTGATCACATGCCACGTTCTGTCACTTCAACAGCCAGCAGGTGGCCAGGTCTGTGTGAGGCAGCATGAGCGTACACACAAGGTGGAGATGGGGCCTTCCTGGCAAGGCTCTGCTCCTTCAACACACCATAAACTCACAACTCTGGTAAGAAGCTACGGAGTGCAACCACCCACAAAAGCCACAGGGTTTCAGAACGGCAGCCAGCGTGTGACAAAACAGTCCGAACAGCATGCGAAAGAGCTGGGAATCCAGACAGGTATGGCCAGGAGGATGGGCAGAGGGATGGGGTGCGGAAGACCTGAGAGAAACAGAAGGAGGACACTCATTCCAGGAAGGTGTACATGGGGAAGTGGAAGATCAAGGTGAACTGAGATTGTGGCTGGAGTTGGCCAACTACGGCCCATGGGCCAAACCAGGCCCACACCTGTTTTTGCAAATACAGCGTTCCTGGAACACAGTCATGTTCATTTACACATATATCACCCGCAGCTGCTTTCACACAATAACGCCTAAAATATTTATTATCTGACCCTTTACAGAAAAAGTTTGCAATTCAGCCTAGAATACTGAAGACCTTGAAAAACAAAAGAAAAATGTGGATTTCATCTATTAGGCAATAATAAACTGC
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Task1_train_22970
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A variant found in Chromosome 16 affects DNAAF1 (dynein axonemal assembly factor 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Primary ciliary dyskinesia 13
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TCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTAAGGAGTTCGAGACCAACCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGATGGCGGGTACCTGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACTCAGGAGGTGTAGGTTACAGTGAGCCGAGATTGTGCAATTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCATCTGAAAAAAAAAAAAAAGTGACTTAAGAGACATCCACTAATTACAAGGTTTGGACCTTATTTGTATGTTGATTCAGACAGTAAACAGTTTGGAAACAAAGACAACAAAGAAATGTGACCAGTTACTGGCTGTTTGATGATGACGTTGAGGAACTGTTGTTTAGACGTCACAGTGGTGTTGTGGCTATCTTAAAGAAAAAAAAAATCCTATCTTTTATAGATACTGACTTCAGCATGAAGACCTTGGAGCAATATGGCAAATACTTCCACTATAAAAATTTTTGTGGAGAGGGTTTGCAAGGAGGGAGAGCATCAGGAGGAACAGCTAATGATGCTAGGCTTAATACCTAGGTGATGGGATGACCTATGCAGCAAACCACATGGCACACATTTACCTATGCCACAAACCAGCACATCCAGCACAGGAACCCATCAACTTAAAATAAAACTTGAAGAAATAAAATAACCAAAATTTTTGTGGAAAAAATATAGGATTTTAAAAAGTCTATCTATACAATGCCTGTGTTTAAGTGTATTCTATAACTATGTTAAATATTACTTGTGCTTATAGCAAGCTTGGAAGGCGAGAGAGAAAAATGAAAACGGATTATCTGTTGGCAGGAACATGGGTGCATTTCTTTTTATTTTGCTCACCATTGATATTAGAATTTTTTAATAAAAACTTTTTCAGGCAACAAAATAAAGAACTTTAAAAAGTGTTGGTAATAGTAGGTCAAGGCATGAATTACACATTGATGACGAGTTACTAAAGGAAACTAAAAGATTTGTTTTCCTAACCGTAAATTTGGCTCATAAAACTGAAAAAGAGAACAAAACAAGGCCCACAGTTTGCACTAGGGTCAGGCCTGGTGGGAACATTTTCAAGGCAGGGTTACCCCCACTGCACCCCCACCTCCACCCACTCCCCACCATGAAGGCAGCAGTAGGCTCCACCCTCCCAGGTGGGTAATTCCAGCAGAAAGACTACCAGTCTTTTCAGCAAGACCCCCTAGGATTCATCAAAGTTCGCCTTGCTTGGCTAAGTGTGGCCACCCCCGAATGAGTCACCGTGACTCTGATAGGCTGCCAGAGAGCCGTTGGGTGATATTAGGAAAAGGATGGTTCCTCCAAGAAAAGTTGCTACTGGAGGAAGGAGGTGTGGATGCCAGGTAGGCAGGTGTCTTAGTCCGTTTTGAGCTGCTGTAACAAGAAACCGTAGCCTGGGTGGCTTGTAGACAACAAAAATGTATTTCTCACAGTTCTGGAGGCTAGGAAGTCCAAGGTCAAGCTACTGGCAGATTTGGTGACTGGTGAGAGCTTGCTTTTTTATTCGCAGATGGCACTTTCTTGCTGTATCCTCATGGGGTGAAGATGGCAAAGAAGCTCTCTGGGGCCTCATTTATGAGACCACTAATCCCATTCCTGAGGGTTCTTCTCTCATGACCTTATCACCTCCCAAAAGTCCCACCTCCTAATACCATCACATTAGGGGTTAGGATTTCAATGTATGAATTTTGAAGGGACACAGACATTCAGTTCCTAATAGTAGGCAAAAACAAGGGTGACCGTGACCCCTCTGCCCTGGGAGTAGGAGCTTAATTCCCACGTGCTTCCTTTTTGTTAGGTTTTGATCGCATTGAGAACCTGGAAGAGTACACAGGGCTGCGCTGTCTCTGGCTGCAGAGCAATGGAATACAGAAAATCGAAAACCTGGAGGCCCAAACTGAGTTGCGTTGCCTCTTCTTGCAAATGAACTTGCTCCGTAAAATTGAGAACCTGGAACCTCTGCAGAAACTGGATGCTCTTAACCTCAGCAACAATTACATCAAGACCATTGAAAACCTCTGTAAGGGTACCCAGCAAGCAGTGTGTCTGTTTGCCATATGTCCATCACCTTCCCCTGAGGGATGTTCTAAGCTTTTATATTATGGGCAAGAAGTGGTGTTTTTTTTTGTCTTTTTTTTGTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTTAGCCTCCAAAATAGCTGGGACTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCAAGAAGTGTTTTTGGTTTTGTTTTGCTTTGCTTCTTTTTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGAAATGCAGTGGTGCAGTTAGAGCTCACTGCAGCCTTGACCTCCTGGTCTCAAGCGATCCTCCCACGTCAGCCTCCCAGGTGGCTGAGACCACAGGCATGTGCCACCAGACCTGGCAAGTTTTTCTACTTTTTGTGGATATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACCTCCTGGGCTCGAAAGATTCTCCCGCTTTAGCCTTCCAAAGTGCTGGGATTACAGGTATGAACCACTGTGCCTGGCCCAAGAAGCATTTTTATGCCTTTGTTTTTGACTTCTGCTGACCTTACCTTCCAGCCTGCCTCCCAGTCCTGAACACATTGCAGATGGCCCACAATCACCTGGAGACCGTGGAGGACATTCAGCATCTACAAGAGTGTTTGAGGCTTTGTGTCCTTGACCTTTCGCACAACAAGCTGAGTGACCCGGAGATCCTGAGCATTCTGGAAAGCATGCCCGATTTGGTAAAAAACAAAAACAAAAACAACGAAAAAGCACCACAGGAAACCGCTTCTATTATTTTCATCAAATATCAAGTCCTTTTGTCTTTTCTCTCCTTCCTGCCTTCCTTCCCTTTTTCACACTTTTTTCCTCTTTGTGTTTTTAGCTGGAGTATCTGAAATGCCAGTTATCGTATTATTTTACCCACAAATAGTTCAGTGTGTGCCTCTAACAGATAAGGACTTTTTTTTTTTGATATAGAGTTTCGCTCTTCTTGATCAGGCTAGAGTGCTGTGGCATGAACTCCGCCCACTGCAACCTCTGCCTCTGGGTTCAAGGAATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGATTTCAGGTGCCTGCCATCACACCCAGCTAATTTTTGTATTCTTAGTAGATTCAGGGTTTCATCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTTGAGTGATCCACCCGCCTCAACCTCCCAAAGTGCTGGGATTACAGGCAAGAGCCATTGTGCCCAACCACCACTCAATTAATTTTTCAAGGAAACCAGGTCCTCTGTCTGGTGTTACCCACATTCTGGATTTAGCTGATTGCATCCTTGTGGTGCCACTTAACATGTTCTGCTGGCCCTGGTATTTCCTGTAAAATGATATCGGAGCCAGAGGCTGGATGGTATCCAGGCTCCATATTTCACCTTGAGGTGTGTCAGGTCCTTCCACTGCCAGCTCCTCACATCCGGGAGCGTGTGATGCCTGCTTGCTTCTCCTTTTGTTGTTTTAAGATTCACTAGTGGGTTCAGATATTGTCAGCCTGGTCTAGCCATTATGAAGTTCCCCGTCAGTCCTTCTCCCAGTTATTTTAGCAGTCACTGATGAACATTGCCTAGATTAATTATTTAATGATGAGTCACACAATGACAACTTTCCAGTTTTCTCACTCTCTCAGCATCTGTTAGCTAGAATGCTTCTACACTTCTACAAAGAGCTTTCATTCGCCAACTAGTGGTTCATGCAGTTCATGCAGAAAAGGCCAGGATCAATGTTTGACCCTTTT
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TCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTAAGGAGTTCGAGACCAACCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGATGGCGGGTACCTGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACTCAGGAGGTGTAGGTTACAGTGAGCCGAGATTGTGCAATTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCATCTGAAAAAAAAAAAAAAGTGACTTAAGAGACATCCACTAATTACAAGGTTTGGACCTTATTTGTATGTTGATTCAGACAGTAAACAGTTTGGAAACAAAGACAACAAAGAAATGTGACCAGTTACTGGCTGTTTGATGATGACGTTGAGGAACTGTTGTTTAGACGTCACAGTGGTGTTGTGGCTATCTTAAAGAAAAAAAAAATCCTATCTTTTATAGATACTGACTTCAGCATGAAGACCTTGGAGCAATATGGCAAATACTTCCACTATAAAAATTTTTGTGGAGAGGGTTTGCAAGGAGGGAGAGCATCAGGAGGAACAGCTAATGATGCTAGGCTTAATACCTAGGTGATGGGATGACCTATGCAGCAAACCACATGGCACACATTTACCTATGCCACAAACCAGCACATCCAGCACAGGAACCCATCAACTTAAAATAAAACTTGAAGAAATAAAATAACCAAAATTTTTGTGGAAAAAATATAGGATTTTAAAAAGTCTATCTATACAATGCCTGTGTTTAAGTGTATTCTATAACTATGTTAAATATTACTTGTGCTTATAGCAAGCTTGGAAGGCGAGAGAGAAAAATGAAAACGGATTATCTGTTGGCAGGAACATGGGTGCATTTCTTTTTATTTTGCTCACCATTGATATTAGAATTTTTTAATAAAAACTTTTTCAGGCAACAAAATAAAGAACTTTAAAAAGTGTTGGTAATAGTAGGTCAAGGCATGAATTACACATTGATGACGAGTTACTAAAGGAAACTAAAAGATTTGTTTTCCTAACCGTAAATTTGGCTCATAAAACTGAAAAAGAGAACAAAACAAGGCCCACAGTTTGCACTAGGGTCAGGCCTGGTGGGAACATTTTCAAGGCAGGGTTACCCCCACTGCACCCCCACCTCCACCCACTCCCCACCATGAAGGCAGCAGTAGGCTCCACCCTCCCAGGTGGGTAATTCCAGCAGAAAGACTACCAGTCTTTTCAGCAAGACCCCCTAGGATTCATCAAAGTTCGCCTTGCTTGGCTAAGTGTGGCCACCCCCGAATGAGTCACCGTGACTCTGATAGGCTGCCAGAGAGCCGTTGGGTGATATTAGGAAAAGGATGGTTCCTCCAAGAAAAGTTGCTACTGGAGGAAGGAGGTGTGGATGCCAGGTAGGCAGGTGTCTTAGTCCGTTTTGAGCTGCTGTAACAAGAAACCGTAGCCTGGGTGGCTTGTAGACAACAAAAATGTATTTCTCACAGTTCTGGAGGCTAGGAAGTCCAAGGTCAAGCTACTGGCAGATTTGGTGACTGGTGAGAGCTTGCTTTTTTATTCGCAGATGGCACTTTCTTGCTGTATCCTCATGGGGTGAAGATGGCAAAGAAGCTCTCTGGGGCCTCATTTATGAGACCACTAATCCCATTCCTGAGGGTTCTTCTCTCATGACCTTATCACCTCCCAAAAGTCCCACCTCCTAATACCATCACATTAGGGGTTAGGATTTCAATGTATGAATTTTGAAGGGACACAGACATTCAGTTCCTAATAGTAGGCAAAAACAAGGGTGACCGTGACCCCTCTGCCCTGGGAGTAGGAGCTTAATTCCCACGTGCTTCCTTTTTGTTAGGTTTTGATCGCATTGAGAACCTGGAAGAGTACACAGGGCTGCGCTGTCTCTGGCTGCAGAGCAATGGAATACAGAAAATCGAAAACCTGGAGGCCCAAACTGAGTTGCGTTGCCTCTTCTTGCAAATGAACTTGCTCCGTAAAATTGAGAACCTGGAACCTCTGCAGAAACGGGATGCTCTTAACCTCAGCAACAATTACATCAAGACCATTGAAAACCTCTGTAAGGGTACCCAGCAAGCAGTGTGTCTGTTTGCCATATGTCCATCACCTTCCCCTGAGGGATGTTCTAAGCTTTTATATTATGGGCAAGAAGTGGTGTTTTTTTTTGTCTTTTTTTTGTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTTAGCCTCCAAAATAGCTGGGACTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCAAGAAGTGTTTTTGGTTTTGTTTTGCTTTGCTTCTTTTTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGAAATGCAGTGGTGCAGTTAGAGCTCACTGCAGCCTTGACCTCCTGGTCTCAAGCGATCCTCCCACGTCAGCCTCCCAGGTGGCTGAGACCACAGGCATGTGCCACCAGACCTGGCAAGTTTTTCTACTTTTTGTGGATATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACCTCCTGGGCTCGAAAGATTCTCCCGCTTTAGCCTTCCAAAGTGCTGGGATTACAGGTATGAACCACTGTGCCTGGCCCAAGAAGCATTTTTATGCCTTTGTTTTTGACTTCTGCTGACCTTACCTTCCAGCCTGCCTCCCAGTCCTGAACACATTGCAGATGGCCCACAATCACCTGGAGACCGTGGAGGACATTCAGCATCTACAAGAGTGTTTGAGGCTTTGTGTCCTTGACCTTTCGCACAACAAGCTGAGTGACCCGGAGATCCTGAGCATTCTGGAAAGCATGCCCGATTTGGTAAAAAACAAAAACAAAAACAACGAAAAAGCACCACAGGAAACCGCTTCTATTATTTTCATCAAATATCAAGTCCTTTTGTCTTTTCTCTCCTTCCTGCCTTCCTTCCCTTTTTCACACTTTTTTCCTCTTTGTGTTTTTAGCTGGAGTATCTGAAATGCCAGTTATCGTATTATTTTACCCACAAATAGTTCAGTGTGTGCCTCTAACAGATAAGGACTTTTTTTTTTTGATATAGAGTTTCGCTCTTCTTGATCAGGCTAGAGTGCTGTGGCATGAACTCCGCCCACTGCAACCTCTGCCTCTGGGTTCAAGGAATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGATTTCAGGTGCCTGCCATCACACCCAGCTAATTTTTGTATTCTTAGTAGATTCAGGGTTTCATCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTTGAGTGATCCACCCGCCTCAACCTCCCAAAGTGCTGGGATTACAGGCAAGAGCCATTGTGCCCAACCACCACTCAATTAATTTTTCAAGGAAACCAGGTCCTCTGTCTGGTGTTACCCACATTCTGGATTTAGCTGATTGCATCCTTGTGGTGCCACTTAACATGTTCTGCTGGCCCTGGTATTTCCTGTAAAATGATATCGGAGCCAGAGGCTGGATGGTATCCAGGCTCCATATTTCACCTTGAGGTGTGTCAGGTCCTTCCACTGCCAGCTCCTCACATCCGGGAGCGTGTGATGCCTGCTTGCTTCTCCTTTTGTTGTTTTAAGATTCACTAGTGGGTTCAGATATTGTCAGCCTGGTCTAGCCATTATGAAGTTCCCCGTCAGTCCTTCTCCCAGTTATTTTAGCAGTCACTGATGAACATTGCCTAGATTAATTATTTAATGATGAGTCACACAATGACAACTTTCCAGTTTTCTCACTCTCTCAGCATCTGTTAGCTAGAATGCTTCTACACTTCTACAAAGAGCTTTCATTCGCCAACTAGTGGTTCATGCAGTTCATGCAGAAAAGGCCAGGATCAATGTTTGACCCTTTT
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Task1_train_22971
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This alteration in COX4I1 (cytochrome c oxidase subunit 4I1) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 16
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CCCCTCCACCACACTCCTGCAACTGTTTAAACAGTGGCTGTGACCCCCTGAGATGATCCAGGGTTTCAAGGCGTGCACATGTCTGTGTTTCGGTTTTCAGAAGTATCACCTTGGGGTGACTCTCAACTTACATGGATTTTCAAAGATTTATTCAATATGTTTTTCAGAAAGTGTTGTGAAGAGCGAAGACTTTTCGCTCCCAGCTTATATGGATCGGCGTGACCACCCCTTGCCGGAGGTGGCCCATGTCAAGCACCTGTCTGCCAGCCAGAAGGCATTGAAGGAGAAGGAGAAGGCCTCCTGGAGCAGCCTCTCCATGGATGAGAAAGTCGAGTGTGGGTATTGAAGGGACCCACAGGCGCGCCCAGCAGCTCTCGGAAGCGTGTGTGTGACAGAGCCTCTGCTCACTTCTGGGCCTACTGTCTAGAGGCAGTCTTGCACAGGAGGGTTGCTCTGCTGGGTTTCGGGGTCACTGTGCCAGGGCCCCAGTTTATGTGCTCACCAGTCACTTAGCTCTGCCAGCTGACAGGATCTTTTGCTAGGCCCCCTTCTCTGTGCTGAGTGGAGGTAGCCTCTCAGCATATCTGCTGGGTAAGACATAGTTAACTGTAAATTATTGAAAGAAACTCAGCAAAATGCATAGTGTTTGGTATGAAAGGGGCAGAAAAATAACAAGATTAAATAGACCCTAATACTGTAATTCAAGTAAGAAATAATTTTGCAGTTTTAATTTGCACCTGAAGCGAACTGTATGCATTTTCTTCTTTCCTTGCCCTGTCACATGCCTGCGTGGGCACGTGTGTGCACGTACGTGCGTGAACATGATGTGGCCTGGGTTGGTGTATCCTTCAGCTCTGTGTTTCCTCCTTCACAAGTGTGGTTTTGGGGAGAAGTGGTTGAATGTTGCAGAGGAGGGAGCTGCTGACCTTTGTGCCTGTAAATGGCTGTCCTCTCTGCCCCCAGTGTATCGCATTAAGTTCAAGGAGAGCTTTGCTGAGATGAACAGGGGCTCGAACGAGTGGAAGACGGTTGTGGGCGGTGCCATGTTCTTCATCGGTTTCACCGCGCTCGTTATCATGTGGCAGAAGCACTATGGTGAGTAGAGAGGGAGGAAGGCATGGGCGCCTGGACTGGGGCTCCAGCCTGCAGTGCCCATTGGTGGGCTGTCGGGGACCTCCATACCTTGAGGCTATGAGATAGGGACTGCATTCCAGAGTTCATCTCAGGATTGTTTCCAGGCCTTGGTGACCTGGAGAACTGAAGTCGTGGGAGGTTAGTTTATAAGCCAGCATCTGATTATTCATAGCCATGCTTGTTGGGTGGTGAAATACCTTAACTACTTTGTACAGCACACCACGTTTTCAGTAGCAATTTATGTGCTCACCAGTCACTTAGCGAAAGATGACTTCGTGAAGGTTCGAGCAAGGATAAGGGGACTCATTCATTGAATGACTGTCTGGACTGTTGTGAGGACTGCATCTCAACAGCCAGCATCTGGGGGTCCCGACCTGATAGTTTGTGTGTGGGCATTGCCGGGTTGCTCGCTCGTGGTAATGACTCTTCCCCGAGGTTCTTTCTGTCCAGGCAGAACAGGCATTTTTGCATTCTGAATAGGTATATTCTCGTACTTTTGGTTTGAATGTGGATGTGGGTTAATAACAGACCCGAATCTATTTGATCTTCCAGGTCACCTTGGGCTCTGTTTGTCAGATCCTGTTATCCATAGCCTTTAGAGAGGACCTTCTGCTTTTAGCTTATTTTGTTGCTAACTTTTTACAAACAAAGGGCTAATTTTAAAATGTCAGTGTTGTCAGTGGTCAGAAACCGTGTGTTTGAGCGGGTGTTGAGTGGCAGGTGGCTCTGCTGACCTGGTGGCTGGTGTGTCGGGAGGATTTAACCTGTGTGAGGGATTGGCCTAGAAACAACCTGTTGAGATAGTCTTGCCCCATAACCTGTCTCACACCGTAGTGTACGGCCCCCTCCCGCAAAGCTTTGACAAAGAGTGGGTGGCCAAGCAGACCAAGAGGATGCTGGACATGAAGGTGAACCCCATCCAGGGCTTAGCCTCCAAGTGGGACTACGAAAAGAACGAGTGGAAGAAGTGAGAGATGCTGGCCTGCGCCTGCACCTGCGCCTGGCTCTGTCACCGCCATGCAACTCCATGCCTATTTACTGGAAACCTGTTATGCCAAACAGTTGTACCACTGCTAATAAATGACCAGTTTACCTGAAACCCTTTGTGATCAGTTCTTTAATGATACCTAAATGAAAGCTAATTAAAACAATAGGTTTCTCCCAAGGGTCTGGAGTAAATATATTTTGGGTGCAAATGAAATGGCAAAAATCTAGTATCTTAAATTGTATAAGGGGACATTATATAAAAACTGAAAATATAGAATTCCTTGATGTAGGAAATTTGAGGTTTTTGGCAAGAGATCTTTATATAAGTAAAATCCCATTATCGTAGGCACACCGGCAGGAGTTACCACAACCCTTTTTTTTTGTTTTGGGAGACGGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAGCCGCACAATCTTGGGTCACTGCCACCTCCACTTCTCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGGAGCTGGGATTACAGGTGCCTACCACCACGACCAGCTAATTTTTGTATTTTTTAGTAGAGACGGGGTATCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGTGTGAGCCAGTGTGCCCGGCCTATGAACCACTTTTCTTCTGGGACTGTCCCTCCCTCCCTGCAGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTACTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGTGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCACCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCGCAGGGTTGGGGGTAAGGTCATAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACAGCAACCATCCGATTTCTCAGTCTTTTCCCCACCTTTCCCCCTTTTCTATTCCACAAAACCGCCGTTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACCCCTCCCAGACGGGGTGGTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGCTGGGCGGAGATGCTCCTCACTTCCCAGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACAGGGCGGCGGGGTAGAGGCACTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGATGCTTCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCGCATCCCAGACGATGGGCGGCCAGGCAGAGATGCTCCTCACTTCCCAGATGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCATTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGTGAAACCCCATCTCCACCAAAAAAATACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAATCGCAGGCAC
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CCCCTCCACCACACTCCTGCAACTGTTTAAACAGTGGCTGTGACCCCCTGAGATGATCCAGGGTTTCAAGGCGTGCACATGTCTGTGTTTCGGTTTTCAGAAGTATCACCTTGGGGTGACTCTCAACTTACATGGATTTTCAAAGATTTATTCAATATGTTTTTCAGAAAGTGTTGTGAAGAGCGAAGACTTTTCGCTCCCAGCTTATATGGATCGGCGTGACCACCCCTTGCCGGAGGTGGCCCATGTCAAGCACCTGTCTGCCAGCCAGAAGGCATTGAAGGAGAAGGAGAAGGCCTCCTGGAGCAGCCTCTCCATGGATGAGAAAGTCGAGTGTGGGTATTGAAGGGACCCACAGGCGCGCCCAGCAGCTCTCGGAAGCGTGTGTGTGACAGAGCCTCTGCTCACTTCTGGGCCTACTGTCTAGAGGCAGTCTTGCACAGGAGGGTTGCTCTGCTGGGTTTCGGGGTCACTGTGCCAGGGCCCCAGTTTATGTGCTCACCAGTCACTTAGCTCTGCCAGCTGACAGGATCTTTTGCTAGGCCCCCTTCTCTGTGCTGAGTGGAGGTAGCCTCTCAGCATATCTGCTGGGTAAGACATAGTTAACTGTAAATTATTGAAAGAAACTCAGCAAAATGCATAGTGTTTGGTATGAAAGGGGCAGAAAAATAACAAGATTAAATAGACCCTAATACTGTAATTCAAGTAAGAAATAATTTTGCAGTTTTAATTTGCACCTGAAGCGAACTGTATGCATTTTCTTCTTTCCTTGCCCTGTCACATGCCTGCGTGGGCACGTGTGTGCACGTACGTGCGTGAACATGATGTGGCCTGGGTTGGTGTATCCTTCAGCTCTGTGTTTCCTCCTTCACAAGTGTGGTTTTGGGGAGAAGTGGTTGAATGTTGCAGAGGAGGGAGCTGCTGACCTTTGTGCCTGTAAATGGCTGTCCTCTCTGCCCCCAGTGTATCGCATTAAGTTCAAGGAGAGCTTTGCTGAGATGAACAGGGGCTCGAACGAGTGGAAGACGGTTGTGGGCGGTGCCATGTTCTTCATCGGTTTCACCGCGCTCGTTATCATGTGGCAGAAGCACTATGGTGAGTAGAGAGGGAGGAAGGCATGGGCGCCTGGACTGGGGCTCCAGCCTGCAGTGCCCATTGGTGGGCTGTCGGGGACCTCCATACCTTGAGGCTATGAGATAGGGACTGCATTCCAGAGTTCATCTCAGGATTGTTTCCAGGCCTTGGTGACCTGGAGAACTGAAGTCGTGGGAGGTTAGTTTATAAGCCAGCATCTGATTATTCATAGCCATGCTTGTTGGGTGGTGAAATACCTTAACTACTTTGTACAGCACACCACGTTTTCAGTAGCAATTTATGTGCTCACCAGTCACTTAGCGAAAGATGACTTCGTGAAGGTTCGAGCAAGGATAAGGGGACTCATTCATTGAATGACTGTCTGGACTGTTGTGAGGACTGCATCTCAACAGCCAGCATCTGGGGGTCCCGACCTGATAGTTTGTGTGTGGGCATTGCCGGGTTGCTCGCTCGTGGTAATGACTCTTCCCCGAGGTTCTTTCTGTCCAGGCAGAACAGGCATTTTTGCATTCTGAATAGGTATATTCTCGTACTTTTGGTTTGAATGTGGATGTGGGTTAATAACAGACCCGAATCTATTTGATCTTCCAGGTCACCTTGGGCTCTGTTTGTCAGATCCTGTTATCCATAGCCTTTAGAGAGGACCTTCTGCTTTTAGCTTATTTTGTTGCTAACTTTTTACAAACAAAGGGCTAATTTTAAAATGTCAGTGTTGTCAGTGGTCAGAAACCGTGTGTTTGAGCGGGTGTTGAGTGGCAGGTGGCTCTGCTGACCTGGTGGCTGGTGTGTCGGGAGGATTTAACCTGTGTGAGGGATTGGCCTAGAAACAACCTGTTGAGATAGTCTTGCCCCATAACCTGTCTCACACCGTAGTGTACGGCCCCCTCCCGCAAAGCTTTGACAAAGAGTGGGTGGCCAAGCAGACCAAGAGGATGCTGGACATGAAGGTGAACACCATCCAGGGCTTAGCCTCCAAGTGGGACTACGAAAAGAACGAGTGGAAGAAGTGAGAGATGCTGGCCTGCGCCTGCACCTGCGCCTGGCTCTGTCACCGCCATGCAACTCCATGCCTATTTACTGGAAACCTGTTATGCCAAACAGTTGTACCACTGCTAATAAATGACCAGTTTACCTGAAACCCTTTGTGATCAGTTCTTTAATGATACCTAAATGAAAGCTAATTAAAACAATAGGTTTCTCCCAAGGGTCTGGAGTAAATATATTTTGGGTGCAAATGAAATGGCAAAAATCTAGTATCTTAAATTGTATAAGGGGACATTATATAAAAACTGAAAATATAGAATTCCTTGATGTAGGAAATTTGAGGTTTTTGGCAAGAGATCTTTATATAAGTAAAATCCCATTATCGTAGGCACACCGGCAGGAGTTACCACAACCCTTTTTTTTTGTTTTGGGAGACGGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAGCCGCACAATCTTGGGTCACTGCCACCTCCACTTCTCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGGAGCTGGGATTACAGGTGCCTACCACCACGACCAGCTAATTTTTGTATTTTTTAGTAGAGACGGGGTATCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGTGTGAGCCAGTGTGCCCGGCCTATGAACCACTTTTCTTCTGGGACTGTCCCTCCCTCCCTGCAGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTACTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGTGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCACCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCGCAGGGTTGGGGGTAAGGTCATAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACAGCAACCATCCGATTTCTCAGTCTTTTCCCCACCTTTCCCCCTTTTCTATTCCACAAAACCGCCGTTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACCCCTCCCAGACGGGGTGGTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGCTGGGCGGAGATGCTCCTCACTTCCCAGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACAGGGCGGCGGGGTAGAGGCACTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGATGCTTCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCGCATCCCAGACGATGGGCGGCCAGGCAGAGATGCTCCTCACTTCCCAGATGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCATTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGTGAAACCCCATCTCCACCAAAAAAATACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAATCGCAGGCAC
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Task1_train_22972
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A change on Chromosome 16 affects gene IRF8 (interferon regulatory factor 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
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TTCTTTAAAAATAAACAACAGCAACAAAACCCAAATTAATGCCCGGTCAGTGATGCAGTCAATGAAGAGAGCATTAAAGACCGTGTGCTTTAAGAAATAGTTTTAGAGGGGAGTTTTACATCAATGTCACATGAGGAAACTACCACTTATGCTCACTAATGGGAATGTTCTTCCAGTCTCTTTACCCCAGGTAGAGGTGCAACATTTTGCATCAACAAAGTAGGCAGCATTGGCCTTGAACAGTAAGCATTCTTGTCTTTTTTGAGAGGAAAAACAGTCTGGGCTATTTTAAAGGAGCTGTGACTCATGGGGGCATGATGGAGTTTCTGGAAGTGTGGTCTCCTGGGTAGCTAAATCCAAATCCCTGGAATACTGGCTAAAGACAGCTACCTGGGCCGGGCGCGGTGGCTCACGCCTGTAAGCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCTCGTCTGTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATTCGCTTGAACCTGGTAGGTGGAGGTTGCAGTGAGCCAGATTGCGCCACTGCATTCCAGACTGGTGACAGAGTGAGACTCCGTCTCAAAAAAATAAAAAAACTAAAATAAATAAAAATAAAAAATAAAAAAAGACAGCTACCGAGACCCAACCTCCCTTCCCCAGTGAGAATCTTGAGGGGCAAGGCCCAGGAATCTGCATTTTCACAAGCTTCCCAGGGGCAGGGGGTTGGTATATGCATTAAGCCTGAGAACACTTGCTGTGGTGGGGAAACTGTTGGGTTGGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGGCCTTGGGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGGCCTTGGGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGACCTTGCGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAATGGGATCGGGATGTCCCTACAGATCTCCTATCATTTTAGGCTGGAGGACACTGCCTGATTTTTCCTGAAACCGAAGATAATTCTCATCTGACTGTGGTTACCTCCTAGTTGGTGTGTCTGTATTCCAATTTTGCAAGCTTAAAATCTGTCCATTCACCTGTCTTATTTTTTTAAAATCTGTACTGCCCCATTCTACATTATGACTTTAAGATTTCAGCTTTGAATTTCTGGTCCTAGTTCAGATCCTAAGGTTTGGAAAAGTCAGAAAACAGATCTATTAAAAAAAACACACACACATTAAAGGGAAAGTACTTCATTACATTTTAAACAGCACCTGGGGGGAAAAGTCTAGAATAAATGCAAAAATGCAAAACAAAATTTCTATTAAAAGTAACAGGGCGATGGATGACCATTTTGACTTTTTGCAAATGTTCCCTTTTCATGCTAAATTTTAGGGGTTGATCTGAAAAAGCAACAACTTGTTCTTTGTTTTGAACGCTCTGGTGAAACCATATGCAACTTCCTCTTTGTGCTGTGTAAACCTCAGGTGTCTCCAGCTCTTCAGCCAGGCAAGGGCTTGGCTAAAAGGTGCACTCCAGGGTTGGAGGAGCCTTCAGCCTGGGTTCGACTTCTGACTCAGCTGTATGAACCTGGGGGACCCCCTCCCTGGCTTGGGTCTTTCCACATCTGGTCCCCAGATGTGAAAAGACTCAAGACATCTGATTGGAGTCTCTTTGGGTCCTGAAATTGAATGAGAGTTGATGGCCAACAAAGATTCATGGGAAGGGAAGGATGTGTGGGGTCCTGGTCATGGTGACGGATATTTGTGATTGGAGTCGGCCATGAATTTAATGTGCTTCTGTTTCTTTCTTCAGGCCTGGGCAGTTTTTAAAGGGAAGTTTAAAGAAGGGGACAAAGCTGAACCAGCCACTTGGAAGACGAGGTTACGCTGTGCTTTGAATAAGAGCCCAGATTTTGAGGAAGTGACGGACCGGTCCCAACTGGACATTTCCGAGCCATACAAAGTTTACCGAATTGTTCCTGAGGAAGAGCAAAAATGTAACTATCCTTTATGGGCATGAAACCTTCCAGAAGCTGCCCTGGCCTGTAGCCTTCACCACAGAACTTGGGTCTGGGGTAGACACAGGGTCTGGGGCACATAGTTTCAGTTAAACAAAGCAGTTCTCTCCTTCGTGTAAGCAGAAATTGAGATCTCTTTCCAGTGACCTCAGAGGGAAGGGCGGAGGAGATTGGGTGCTGCCCAACCTGTGCCCCACTTGCTGCCTGACCACAGACATTTGTAGGGCCTCCCTGGACAGGAACAAGCATCCTCCAGCAGTTTCTGATGAGGAATCCTTTCATTTTCCAGCAGCTTGCAGAGGAGGCCAGGGGAAAATATGGTGACCACAGAAGGCCTGGATCATGAGGGTTGGGAGTAAAGCTCTCAGATGAAGTTGTCAAAGATGGCACCATGGCCTTCGTTGTTGGAGATGGGATATGCCTCAGTGTGTTACTAGATCCTGATTGTTATTTGGGAACTCCGGGATGTGATCATTCCTGAGGTTTCTTCCAGCTCTCAAATCCCAAGAAAGCATTTGTGACAGATTAAAGCAGGACAGCAAAAACATGCCGCACCCTGGTCCTACATCACTAAAATAAATCCCAAAGTACTGAGCTGGGATCTGGCCTCAGAAGGCTTCTCAAAGCCCTGTGCTGTGCCGCTGCCATGAATTGTAGCTGATTTATGAGATAAAACCTAATTACCAGCGCTGGTTTAGAACATGCTTTTAACACATTGATTTTCTTAGCCACTTGATGAGGCTTTTAGAATAACCCACTCTGGCTTTCTCCTTCTAAGCTTCTGAGTAGTCCACGAATGCCTGTAAGAAACAGAAACCCCCAAAACTTCTTGGGGCTGTGCAGAAGTTTGAAGTTTGCACTCTTCCCGCTGTGGGGGTGTTGACTTAGAATTTTTTAAGAAGTTAAAATGGTGATTCAAACAAATCTATAGTGAATCTGTGTCAGAGAGTTGTGTAATCGTCATGAAGGAGGCAGCATGATGGTAAAGATGGTGGACAGAGAATCCGAGGTGCTGGTGAATGTGGCCCATGAACGAGAAAGCTGAGCCAAAGCCGATGCCCGACCCGGACAGTACAATTGCGGTTTGGGGCGTTTGTAGCCTAATCGTCTGCAATTAGCACCTAACTCTACTGAGCGTGAACCCTAGTCAATACTAAATAGTAAGGCCAACAAACTGACCTTCCCTTGGAGAATCGGGTGCCCTTTAGGAGGAAACCTCTATATAATAGTCTGGGGTGACCCTGAAAGGCTAAGCAGTCATCTTTTTGCCTCATTTCCCAGTTTTGGACAATTTTTTTTATCACCAAAAAGTAAAGTGTGATTTGAAGGAATAGAGAAGTTTCTTTTGGCCCCTACTGCCACCCCCAAGATCAGTCAGGCTTGAACCGGCAGGTGACCCCAACTTGTTTATAGCATGGGGTGCAGCCAGCATCACCTGCTAGTGATGTTAAAGAAGCAGCAGGAGGTTCTCAGGGGTGAAGCAATGTAGCATTTGCATAATTGCCTACAGGGGCCCACTCGCCTCTAACCTCAGTGGTTTGCAGGCTCCATGGTGGGCGCCCCACCTGCTCCCTACTTCCCCATCAGTAGCTTCTCAGTGAATTCTTTAATCTATCGAAATGGAATCAAAATTCAGCCAGGAGGAAACAGTGGGTAAATTCTGTAGGTCACTGGGAATAATGAATTTTTGTAAGTGTTGGTTGTGATACGTCTCACACTGATAAACTTCATAAGGTAAGTTGTCGACTGAGGAAGCGGCATGAGAAGGGAAAGAGCAGAGGCTGGCCCAGCGTGCCCCTGTGGACACTGTGCACCTTTAGGCGGTTTGTGATTACGGCTGGTGCCCACTGGGCATCAGTGAGGGTGCTGCGGTGTGTGTGTGTGCATGGCTGTGTGCACTGATGCA
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TTCTTTAAAAATAAACAACAGCAACAAAACCCAAATTAATGCCCGGTCAGTGATGCAGTCAATGAAGAGAGCATTAAAGACCGTGTGCTTTAAGAAATAGTTTTAGAGGGGAGTTTTACATCAATGTCACATGAGGAAACTACCACTTATGCTCACTAATGGGAATGTTCTTCCAGTCTCTTTACCCCAGGTAGAGGTGCAACATTTTGCATCAACAAAGTAGGCAGCATTGGCCTTGAACAGTAAGCATTCTTGTCTTTTTTGAGAGGAAAAACAGTCTGGGCTATTTTAAAGGAGCTGTGACTCATGGGGGCATGATGGAGTTTCTGGAAGTGTGGTCTCCTGGGTAGCTAAATCCAAATCCCTGGAATACTGGCTAAAGACAGCTACCTGGGCCGGGCGCGGTGGCTCACGCCTGTAAGCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCTCGTCTGTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATTCGCTTGAACCTGGTAGGTGGAGGTTGCAGTGAGCCAGATTGCGCCACTGCATTCCAGACTGGTGACAGAGTGAGACTCCGTCTCAAAAAAATAAAAAAACTAAAATAAATAAAAATAAAAAATAAAAAAAGACAGCTACCGAGACCCAACCTCCCTTCCCCAGTGAGAATCTTGAGGGGCAAGGCCCAGGAATCTGCATTTTCACAAGCTTCCCAGGGGCAGGGGGTTGGTATATGCATTAAGCCTGAGAACACTTGCTGTGGTGGGGAAACTGTTGGGTTGGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGGCCTTGGGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGGCCTTGGGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGACCTTGCGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAATGGGATCGGGATGTCCCTACAGATCTCCTATCATTTTAGGCTGGAGGACACTGCCTGATTTTTCCTGAAACCGAAGATAATTCTCATCTGACTGTGGTTACCTCCTAGTTGGTGTGTCTGTATTCCAATTTTGCAAGCTTAAAATCTGTCCATTCACCTGTCTTATTTTTTTAAAATCTGTACTGCCCCATTCTACATTATGACTTTAAGATTTCAGCTTTGAATTTCTGGTCCTAGTTCAGATCCTAAGGTTTGGAAAAGTCAGAAAACAGATCTATTAAAAAAAACACACACACATTAAAGGGAAAGTACTTCATTACATTTTAAACAGCACCTGGGGGGAAAAGTCTAGAATAAATGCAAAAATGCAAAACAAAATTTCTATTAAAAGTAACAGGGCGATGGATGACCATTTTGACTTTTTGCAAATGTTCCCTTTTCATGCTAAATTTTAGGGGTTGATCTGAAAAAGCAACAACTTGTTCTTTGTTTTGAACGCTCTGGTGAAACCATATGCAACTTCCTCTTTGTGCTGTGTAAACCTCAGGTGTCTCCAGCTCTTCAGCCAGGCAAGGGCTTGGCTAAAAGGTGCACTCCAGGGTTGGAGGAGCCTTCAGCCTGGGTTCGACTTCTGACTCAGCTGTATGAACCTGGGGGACCCCCTCCCTGGCTTGGGTCTTTCCACATCTGGTCCCCAGATGTGAAAAGACTCAAGACATCTGATTGGAGTCTCTTTGGGTCCTGAAATTGAATGAGAGTTGATGGCCAACAAAGATTCATGGGAAGGGAAGGATGTGTGGGGTCCTGGTCATGGTGACGGATATTTGTGATTGGAGTCGGCCATGAATTTAATGTGCTTCTGTTTCTTTCTTCAGGCCTGGGCAGTTTTTAAAGGGAAGTTTAAAGAAGGGGACAAAGCTGAACCAGCCACTTGGAAGGCGAGGTTACGCTGTGCTTTGAATAAGAGCCCAGATTTTGAGGAAGTGACGGACCGGTCCCAACTGGACATTTCCGAGCCATACAAAGTTTACCGAATTGTTCCTGAGGAAGAGCAAAAATGTAACTATCCTTTATGGGCATGAAACCTTCCAGAAGCTGCCCTGGCCTGTAGCCTTCACCACAGAACTTGGGTCTGGGGTAGACACAGGGTCTGGGGCACATAGTTTCAGTTAAACAAAGCAGTTCTCTCCTTCGTGTAAGCAGAAATTGAGATCTCTTTCCAGTGACCTCAGAGGGAAGGGCGGAGGAGATTGGGTGCTGCCCAACCTGTGCCCCACTTGCTGCCTGACCACAGACATTTGTAGGGCCTCCCTGGACAGGAACAAGCATCCTCCAGCAGTTTCTGATGAGGAATCCTTTCATTTTCCAGCAGCTTGCAGAGGAGGCCAGGGGAAAATATGGTGACCACAGAAGGCCTGGATCATGAGGGTTGGGAGTAAAGCTCTCAGATGAAGTTGTCAAAGATGGCACCATGGCCTTCGTTGTTGGAGATGGGATATGCCTCAGTGTGTTACTAGATCCTGATTGTTATTTGGGAACTCCGGGATGTGATCATTCCTGAGGTTTCTTCCAGCTCTCAAATCCCAAGAAAGCATTTGTGACAGATTAAAGCAGGACAGCAAAAACATGCCGCACCCTGGTCCTACATCACTAAAATAAATCCCAAAGTACTGAGCTGGGATCTGGCCTCAGAAGGCTTCTCAAAGCCCTGTGCTGTGCCGCTGCCATGAATTGTAGCTGATTTATGAGATAAAACCTAATTACCAGCGCTGGTTTAGAACATGCTTTTAACACATTGATTTTCTTAGCCACTTGATGAGGCTTTTAGAATAACCCACTCTGGCTTTCTCCTTCTAAGCTTCTGAGTAGTCCACGAATGCCTGTAAGAAACAGAAACCCCCAAAACTTCTTGGGGCTGTGCAGAAGTTTGAAGTTTGCACTCTTCCCGCTGTGGGGGTGTTGACTTAGAATTTTTTAAGAAGTTAAAATGGTGATTCAAACAAATCTATAGTGAATCTGTGTCAGAGAGTTGTGTAATCGTCATGAAGGAGGCAGCATGATGGTAAAGATGGTGGACAGAGAATCCGAGGTGCTGGTGAATGTGGCCCATGAACGAGAAAGCTGAGCCAAAGCCGATGCCCGACCCGGACAGTACAATTGCGGTTTGGGGCGTTTGTAGCCTAATCGTCTGCAATTAGCACCTAACTCTACTGAGCGTGAACCCTAGTCAATACTAAATAGTAAGGCCAACAAACTGACCTTCCCTTGGAGAATCGGGTGCCCTTTAGGAGGAAACCTCTATATAATAGTCTGGGGTGACCCTGAAAGGCTAAGCAGTCATCTTTTTGCCTCATTTCCCAGTTTTGGACAATTTTTTTTATCACCAAAAAGTAAAGTGTGATTTGAAGGAATAGAGAAGTTTCTTTTGGCCCCTACTGCCACCCCCAAGATCAGTCAGGCTTGAACCGGCAGGTGACCCCAACTTGTTTATAGCATGGGGTGCAGCCAGCATCACCTGCTAGTGATGTTAAAGAAGCAGCAGGAGGTTCTCAGGGGTGAAGCAATGTAGCATTTGCATAATTGCCTACAGGGGCCCACTCGCCTCTAACCTCAGTGGTTTGCAGGCTCCATGGTGGGCGCCCCACCTGCTCCCTACTTCCCCATCAGTAGCTTCTCAGTGAATTCTTTAATCTATCGAAATGGAATCAAAATTCAGCCAGGAGGAAACAGTGGGTAAATTCTGTAGGTCACTGGGAATAATGAATTTTTGTAAGTGTTGGTTGTGATACGTCTCACACTGATAAACTTCATAAGGTAAGTTGTCGACTGAGGAAGCGGCATGAGAAGGGAAAGAGCAGAGGCTGGCCCAGCGTGCCCCTGTGGACACTGTGCACCTTTAGGCGGTTTGTGATTACGGCTGGTGCCCACTGGGCATCAGTGAGGGTGCTGCGGTGTGTGTGTGTGCATGGCTGTGTGCACTGATGCA
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Task1_train_22973
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The variant affects gene IRF8, LOC130059663 (interferon regulatory factor 8| ATAC-STARR-seq lymphoblastoid active region 11295), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Immunodeficiency 32B
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GTGCTTTAAGAAATAGTTTTAGAGGGGAGTTTTACATCAATGTCACATGAGGAAACTACCACTTATGCTCACTAATGGGAATGTTCTTCCAGTCTCTTTACCCCAGGTAGAGGTGCAACATTTTGCATCAACAAAGTAGGCAGCATTGGCCTTGAACAGTAAGCATTCTTGTCTTTTTTGAGAGGAAAAACAGTCTGGGCTATTTTAAAGGAGCTGTGACTCATGGGGGCATGATGGAGTTTCTGGAAGTGTGGTCTCCTGGGTAGCTAAATCCAAATCCCTGGAATACTGGCTAAAGACAGCTACCTGGGCCGGGCGCGGTGGCTCACGCCTGTAAGCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCTCGTCTGTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATTCGCTTGAACCTGGTAGGTGGAGGTTGCAGTGAGCCAGATTGCGCCACTGCATTCCAGACTGGTGACAGAGTGAGACTCCGTCTCAAAAAAATAAAAAAACTAAAATAAATAAAAATAAAAAATAAAAAAAGACAGCTACCGAGACCCAACCTCCCTTCCCCAGTGAGAATCTTGAGGGGCAAGGCCCAGGAATCTGCATTTTCACAAGCTTCCCAGGGGCAGGGGGTTGGTATATGCATTAAGCCTGAGAACACTTGCTGTGGTGGGGAAACTGTTGGGTTGGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGGCCTTGGGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGGCCTTGGGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGACCTTGCGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAATGGGATCGGGATGTCCCTACAGATCTCCTATCATTTTAGGCTGGAGGACACTGCCTGATTTTTCCTGAAACCGAAGATAATTCTCATCTGACTGTGGTTACCTCCTAGTTGGTGTGTCTGTATTCCAATTTTGCAAGCTTAAAATCTGTCCATTCACCTGTCTTATTTTTTTAAAATCTGTACTGCCCCATTCTACATTATGACTTTAAGATTTCAGCTTTGAATTTCTGGTCCTAGTTCAGATCCTAAGGTTTGGAAAAGTCAGAAAACAGATCTATTAAAAAAAACACACACACATTAAAGGGAAAGTACTTCATTACATTTTAAACAGCACCTGGGGGGAAAAGTCTAGAATAAATGCAAAAATGCAAAACAAAATTTCTATTAAAAGTAACAGGGCGATGGATGACCATTTTGACTTTTTGCAAATGTTCCCTTTTCATGCTAAATTTTAGGGGTTGATCTGAAAAAGCAACAACTTGTTCTTTGTTTTGAACGCTCTGGTGAAACCATATGCAACTTCCTCTTTGTGCTGTGTAAACCTCAGGTGTCTCCAGCTCTTCAGCCAGGCAAGGGCTTGGCTAAAAGGTGCACTCCAGGGTTGGAGGAGCCTTCAGCCTGGGTTCGACTTCTGACTCAGCTGTATGAACCTGGGGGACCCCCTCCCTGGCTTGGGTCTTTCCACATCTGGTCCCCAGATGTGAAAAGACTCAAGACATCTGATTGGAGTCTCTTTGGGTCCTGAAATTGAATGAGAGTTGATGGCCAACAAAGATTCATGGGAAGGGAAGGATGTGTGGGGTCCTGGTCATGGTGACGGATATTTGTGATTGGAGTCGGCCATGAATTTAATGTGCTTCTGTTTCTTTCTTCAGGCCTGGGCAGTTTTTAAAGGGAAGTTTAAAGAAGGGGACAAAGCTGAACCAGCCACTTGGAAGACGAGGTTACGCTGTGCTTTGAATAAGAGCCCAGATTTTGAGGAAGTGACGGACCGGTCCCAACTGGACATTTCCGAGCCATACAAAGTTTACCGAATTGTTCCTGAGGAAGAGCAAAAATGTAACTATCCTTTATGGGCATGAAACCTTCCAGAAGCTGCCCTGGCCTGTAGCCTTCACCACAGAACTTGGGTCTGGGGTAGACACAGGGTCTGGGGCACATAGTTTCAGTTAAACAAAGCAGTTCTCTCCTTCGTGTAAGCAGAAATTGAGATCTCTTTCCAGTGACCTCAGAGGGAAGGGCGGAGGAGATTGGGTGCTGCCCAACCTGTGCCCCACTTGCTGCCTGACCACAGACATTTGTAGGGCCTCCCTGGACAGGAACAAGCATCCTCCAGCAGTTTCTGATGAGGAATCCTTTCATTTTCCAGCAGCTTGCAGAGGAGGCCAGGGGAAAATATGGTGACCACAGAAGGCCTGGATCATGAGGGTTGGGAGTAAAGCTCTCAGATGAAGTTGTCAAAGATGGCACCATGGCCTTCGTTGTTGGAGATGGGATATGCCTCAGTGTGTTACTAGATCCTGATTGTTATTTGGGAACTCCGGGATGTGATCATTCCTGAGGTTTCTTCCAGCTCTCAAATCCCAAGAAAGCATTTGTGACAGATTAAAGCAGGACAGCAAAAACATGCCGCACCCTGGTCCTACATCACTAAAATAAATCCCAAAGTACTGAGCTGGGATCTGGCCTCAGAAGGCTTCTCAAAGCCCTGTGCTGTGCCGCTGCCATGAATTGTAGCTGATTTATGAGATAAAACCTAATTACCAGCGCTGGTTTAGAACATGCTTTTAACACATTGATTTTCTTAGCCACTTGATGAGGCTTTTAGAATAACCCACTCTGGCTTTCTCCTTCTAAGCTTCTGAGTAGTCCACGAATGCCTGTAAGAAACAGAAACCCCCAAAACTTCTTGGGGCTGTGCAGAAGTTTGAAGTTTGCACTCTTCCCGCTGTGGGGGTGTTGACTTAGAATTTTTTAAGAAGTTAAAATGGTGATTCAAACAAATCTATAGTGAATCTGTGTCAGAGAGTTGTGTAATCGTCATGAAGGAGGCAGCATGATGGTAAAGATGGTGGACAGAGAATCCGAGGTGCTGGTGAATGTGGCCCATGAACGAGAAAGCTGAGCCAAAGCCGATGCCCGACCCGGACAGTACAATTGCGGTTTGGGGCGTTTGTAGCCTAATCGTCTGCAATTAGCACCTAACTCTACTGAGCGTGAACCCTAGTCAATACTAAATAGTAAGGCCAACAAACTGACCTTCCCTTGGAGAATCGGGTGCCCTTTAGGAGGAAACCTCTATATAATAGTCTGGGGTGACCCTGAAAGGCTAAGCAGTCATCTTTTTGCCTCATTTCCCAGTTTTGGACAATTTTTTTTATCACCAAAAAGTAAAGTGTGATTTGAAGGAATAGAGAAGTTTCTTTTGGCCCCTACTGCCACCCCCAAGATCAGTCAGGCTTGAACCGGCAGGTGACCCCAACTTGTTTATAGCATGGGGTGCAGCCAGCATCACCTGCTAGTGATGTTAAAGAAGCAGCAGGAGGTTCTCAGGGGTGAAGCAATGTAGCATTTGCATAATTGCCTACAGGGGCCCACTCGCCTCTAACCTCAGTGGTTTGCAGGCTCCATGGTGGGCGCCCCACCTGCTCCCTACTTCCCCATCAGTAGCTTCTCAGTGAATTCTTTAATCTATCGAAATGGAATCAAAATTCAGCCAGGAGGAAACAGTGGGTAAATTCTGTAGGTCACTGGGAATAATGAATTTTTGTAAGTGTTGGTTGTGATACGTCTCACACTGATAAACTTCATAAGGTAAGTTGTCGACTGAGGAAGCGGCATGAGAAGGGAAAGAGCAGAGGCTGGCCCAGCGTGCCCCTGTGGACACTGTGCACCTTTAGGCGGTTTGTGATTACGGCTGGTGCCCACTGGGCATCAGTGAGGGTGCTGCGGTGTGTGTGTGTGCATGGCTGTGTGCACTGATGCACATGTGTATATTTGGAAAGGCCAAAAAGAGATTTCCTGCCAACTGGCAATACAAAAAAGACCCCAACCTGCCAACACGTTTTGC
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GTGCTTTAAGAAATAGTTTTAGAGGGGAGTTTTACATCAATGTCACATGAGGAAACTACCACTTATGCTCACTAATGGGAATGTTCTTCCAGTCTCTTTACCCCAGGTAGAGGTGCAACATTTTGCATCAACAAAGTAGGCAGCATTGGCCTTGAACAGTAAGCATTCTTGTCTTTTTTGAGAGGAAAAACAGTCTGGGCTATTTTAAAGGAGCTGTGACTCATGGGGGCATGATGGAGTTTCTGGAAGTGTGGTCTCCTGGGTAGCTAAATCCAAATCCCTGGAATACTGGCTAAAGACAGCTACCTGGGCCGGGCGCGGTGGCTCACGCCTGTAAGCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCTCGTCTGTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATTCGCTTGAACCTGGTAGGTGGAGGTTGCAGTGAGCCAGATTGCGCCACTGCATTCCAGACTGGTGACAGAGTGAGACTCCGTCTCAAAAAAATAAAAAAACTAAAATAAATAAAAATAAAAAATAAAAAAAGACAGCTACCGAGACCCAACCTCCCTTCCCCAGTGAGAATCTTGAGGGGCAAGGCCCAGGAATCTGCATTTTCACAAGCTTCCCAGGGGCAGGGGGTTGGTATATGCATTAAGCCTGAGAACACTTGCTGTGGTGGGGAAACTGTTGGGTTGGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGGCCTTGGGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGGCCTTGGGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGACCTTGCGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAATGGGATCGGGATGTCCCTACAGATCTCCTATCATTTTAGGCTGGAGGACACTGCCTGATTTTTCCTGAAACCGAAGATAATTCTCATCTGACTGTGGTTACCTCCTAGTTGGTGTGTCTGTATTCCAATTTTGCAAGCTTAAAATCTGTCCATTCACCTGTCTTATTTTTTTAAAATCTGTACTGCCCCATTCTACATTATGACTTTAAGATTTCAGCTTTGAATTTCTGGTCCTAGTTCAGATCCTAAGGTTTGGAAAAGTCAGAAAACAGATCTATTAAAAAAAACACACACACATTAAAGGGAAAGTACTTCATTACATTTTAAACAGCACCTGGGGGGAAAAGTCTAGAATAAATGCAAAAATGCAAAACAAAATTTCTATTAAAAGTAACAGGGCGATGGATGACCATTTTGACTTTTTGCAAATGTTCCCTTTTCATGCTAAATTTTAGGGGTTGATCTGAAAAAGCAACAACTTGTTCTTTGTTTTGAACGCTCTGGTGAAACCATATGCAACTTCCTCTTTGTGCTGTGTAAACCTCAGGTGTCTCCAGCTCTTCAGCCAGGCAAGGGCTTGGCTAAAAGGTGCACTCCAGGGTTGGAGGAGCCTTCAGCCTGGGTTCGACTTCTGACTCAGCTGTATGAACCTGGGGGACCCCCTCCCTGGCTTGGGTCTTTCCACATCTGGTCCCCAGATGTGAAAAGACTCAAGACATCTGATTGGAGTCTCTTTGGGTCCTGAAATTGAATGAGAGTTGATGGCCAACAAAGATTCATGGGAAGGGAAGGATGTGTGGGGTCCTGGTCATGGTGACGGATATTTGTGATTGGAGTCGGCCATGAATTTAATGTGCTTCTGTTTCTTTCTTCAGGCCTGGGCAGTTTTTAAAGGGAAGTTTAAAGAAGGGGACAAAGCTGAACCAGCCACTTGGAAGACGAGGTTACGCTGTGCTTTGAATAAGAGCCCAGATTTTGAGGAAGTGACGGACCGGTCCCAACTGGACATTTCCGAGCCATACGAAGTTTACCGAATTGTTCCTGAGGAAGAGCAAAAATGTAACTATCCTTTATGGGCATGAAACCTTCCAGAAGCTGCCCTGGCCTGTAGCCTTCACCACAGAACTTGGGTCTGGGGTAGACACAGGGTCTGGGGCACATAGTTTCAGTTAAACAAAGCAGTTCTCTCCTTCGTGTAAGCAGAAATTGAGATCTCTTTCCAGTGACCTCAGAGGGAAGGGCGGAGGAGATTGGGTGCTGCCCAACCTGTGCCCCACTTGCTGCCTGACCACAGACATTTGTAGGGCCTCCCTGGACAGGAACAAGCATCCTCCAGCAGTTTCTGATGAGGAATCCTTTCATTTTCCAGCAGCTTGCAGAGGAGGCCAGGGGAAAATATGGTGACCACAGAAGGCCTGGATCATGAGGGTTGGGAGTAAAGCTCTCAGATGAAGTTGTCAAAGATGGCACCATGGCCTTCGTTGTTGGAGATGGGATATGCCTCAGTGTGTTACTAGATCCTGATTGTTATTTGGGAACTCCGGGATGTGATCATTCCTGAGGTTTCTTCCAGCTCTCAAATCCCAAGAAAGCATTTGTGACAGATTAAAGCAGGACAGCAAAAACATGCCGCACCCTGGTCCTACATCACTAAAATAAATCCCAAAGTACTGAGCTGGGATCTGGCCTCAGAAGGCTTCTCAAAGCCCTGTGCTGTGCCGCTGCCATGAATTGTAGCTGATTTATGAGATAAAACCTAATTACCAGCGCTGGTTTAGAACATGCTTTTAACACATTGATTTTCTTAGCCACTTGATGAGGCTTTTAGAATAACCCACTCTGGCTTTCTCCTTCTAAGCTTCTGAGTAGTCCACGAATGCCTGTAAGAAACAGAAACCCCCAAAACTTCTTGGGGCTGTGCAGAAGTTTGAAGTTTGCACTCTTCCCGCTGTGGGGGTGTTGACTTAGAATTTTTTAAGAAGTTAAAATGGTGATTCAAACAAATCTATAGTGAATCTGTGTCAGAGAGTTGTGTAATCGTCATGAAGGAGGCAGCATGATGGTAAAGATGGTGGACAGAGAATCCGAGGTGCTGGTGAATGTGGCCCATGAACGAGAAAGCTGAGCCAAAGCCGATGCCCGACCCGGACAGTACAATTGCGGTTTGGGGCGTTTGTAGCCTAATCGTCTGCAATTAGCACCTAACTCTACTGAGCGTGAACCCTAGTCAATACTAAATAGTAAGGCCAACAAACTGACCTTCCCTTGGAGAATCGGGTGCCCTTTAGGAGGAAACCTCTATATAATAGTCTGGGGTGACCCTGAAAGGCTAAGCAGTCATCTTTTTGCCTCATTTCCCAGTTTTGGACAATTTTTTTTATCACCAAAAAGTAAAGTGTGATTTGAAGGAATAGAGAAGTTTCTTTTGGCCCCTACTGCCACCCCCAAGATCAGTCAGGCTTGAACCGGCAGGTGACCCCAACTTGTTTATAGCATGGGGTGCAGCCAGCATCACCTGCTAGTGATGTTAAAGAAGCAGCAGGAGGTTCTCAGGGGTGAAGCAATGTAGCATTTGCATAATTGCCTACAGGGGCCCACTCGCCTCTAACCTCAGTGGTTTGCAGGCTCCATGGTGGGCGCCCCACCTGCTCCCTACTTCCCCATCAGTAGCTTCTCAGTGAATTCTTTAATCTATCGAAATGGAATCAAAATTCAGCCAGGAGGAAACAGTGGGTAAATTCTGTAGGTCACTGGGAATAATGAATTTTTGTAAGTGTTGGTTGTGATACGTCTCACACTGATAAACTTCATAAGGTAAGTTGTCGACTGAGGAAGCGGCATGAGAAGGGAAAGAGCAGAGGCTGGCCCAGCGTGCCCCTGTGGACACTGTGCACCTTTAGGCGGTTTGTGATTACGGCTGGTGCCCACTGGGCATCAGTGAGGGTGCTGCGGTGTGTGTGTGTGCATGGCTGTGTGCACTGATGCACATGTGTATATTTGGAAAGGCCAAAAAGAGATTTCCTGCCAACTGGCAATACAAAAAAGACCCCAACCTGCCAACACGTTTTGC
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Task1_train_22974
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A variant found in Chromosome 16 affects FOXF1 (forkhead box F1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment
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CGCGCCGCGATGCGCCGGGGCTCCTGCGCTGTCCTGCGCTCCGCTCTCGGCACCACCTTTCGTGGCTCCACCGCCCCCAGCCCGCACCCGAGCGCTGAGGTGGCAAGGGCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTG
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CGCGCCGCGATGCGCCGGGGCTCCTGCGCTGTCCTGCGCTCCGCTCTCGGCACCACCTTTCGTGGCTCCACCGCCCCCAGCCCGCACCCGAGCGCTGAGGTGGCAAGGGCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGGCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTG
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Task1_train_22975
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Consider this mutation in FOXF1 (forkhead box F1) on Chromosome 16. Is this a benign change or a disease-causing variant?
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Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment
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CGCGCCGCGATGCGCCGGGGCTCCTGCGCTGTCCTGCGCTCCGCTCTCGGCACCACCTTTCGTGGCTCCACCGCCCCCAGCCCGCACCCGAGCGCTGAGGTGGCAAGGGCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTG
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CGCGCCGCGATGCGCCGGGGCTCCTGCGCTGTCCTGCGCTCCGCTCTCGGCACCACCTTTCGTGGCTCCACCGCCCCCAGCCCGCACCCGAGCGCTGAGGTGGCAAGGGCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGTCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTG
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Task1_train_22976
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Here is a mutation in FOXF1 (forkhead box F1) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment
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CCAGCCCGCACCCGAGCGCTGAGGTGGCAAGGGCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCA
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CCAGCCCGCACCCGAGCGCTGAGGTGGCAAGGGCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGAACTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCA
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Task1_train_22977
|
A change on Chromosome 16 affects gene FOXF1 (forkhead box F1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment
|
GCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAG
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GCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCCTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAG
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Task1_train_22978
|
Consider this mutation in FOXF1 (forkhead box F1) on Chromosome 16. Is this a benign change or a disease-causing variant?
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Pathogenic; not provided
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GTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAGCCAC
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GTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCCGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAGCCAC
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Task1_train_22979
|
A variant found in Chromosome 16 affects FOXF1 (forkhead box F1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment
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GCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAGCCACCGTGGCTAACTCTTCTGCTCCCCCAACCCCTCCTGTC
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GCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCAAAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAGCCACCGTGGCTAACTCTTCTGCTCCCCCAACCCCTCCTGTC
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Task1_train_22980
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A variant on Chromosome 16 in gene FOXF1 (forkhead box F1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment
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GCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAGCCACCGTGGCTAACTCTTCTGCTCCCCCAACCCCTCCTGTCGCCTCGCC
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GCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTTGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAGCCACCGTGGCTAACTCTTCTGCTCCCCCAACCCCTCCTGTCGCCTCGCC
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Task1_train_22981
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The gene FOXF1 (forkhead box F1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment
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CGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAGCCACCGTGGCTAACTCTTCTGCTCCCCCAACCCCTCCTGTCGCCTCGCCTTGCAGGCATCCCG
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CGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCCTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAGCCACCGTGGCTAACTCTTCTGCTCCCCCAACCCCTCCTGTCGCCTCGCCTTGCAGGCATCCCG
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Task1_train_22982
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The gene FOXC2, FOXC2-AS1 (forkhead box C2| FOXC2 antisense RNA 1) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Distichiasis-lymphedema syndrome
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GGGGTGTCTCACTCCTTCAGGGAAAGTGGGAAAAGGGGATCTGATTATTGAGGTGTGGAAGGAATAAATAATCAGTCCACAAATAAACAAACTGTCCGGGATTCCTAGAGGGAAGGAGAAATCCTTGAAGGAGATCCAAGTCGCTCCAGGTCTGCCTGCCGAATAATATCATCCCGAAGGGATCTTGAACCGTTTGCAATCAACCGCTCACCCAGTCTTCCCACGGAGCGCGCTCCCTAACTCACCCTACCCACCCAACAAAACAAAAAAAAGGCTGAAATATAGAAAAGCAACTTGGAGGCTCCCAGGGGGACGTTGCCAGGAGCAGGAGGCAGGGACAGCGCCCTAGGGTCGGTGTTAGCGGCCGGCGCCGGCCTGGGCCACGGGAAACGTCCACGCTTGGTGCCCGCGGTGCGCGGCGCTCATTGCGCGCGCCTTCGAGCCAAGCCCCCGCGGAAAACAGGCTCGGGTTTCTCCTCGCAGGGCCCAGGAACTCGGCTCTGCCTGGCCCGGGTGGGTCGCTGCATTGTCCCGGTCTTCTGGGAGTGCGGGGTCAGCTTGTTAGAGGGAATTTCTACCTGGGAAAAGGGAGACGAGTTTCGAAGCTGAAGTTGGTAGGCTGCGAGTGTCCACGCGGGAGACGAAAGGGGGAAATAGCAGAGTCACTTCACCCTTTTCCCCAAACCCCACAAAACTGCTCGCAGCGACGCGGATGATCTACCGAATTCCCCGCGAATTCGGAGGATTAAGTTGTCAGTCAGCACGTTGCTACCTTCCCCTCTATGCACTCCGCTGCCTGGCTCCTCGGCGGGGAGCGAGGGAAACTCAGTTTGTAGGGTTTACCTCTAAAACCTCGATAGGTTATCCTTGACGACCCCGAGCCTGGAAACTCCCTGTTGATGATTAATTATTTGATTAAATAAGTATAACATCCAGGAGAGGCCCTGCCATTCCAATCCAGCGCGTTTGCTTTGAATCCATTACACCTGGGCCCCCATAATTAGGAAATCTAATTATTCGCTTCATCACTCATTAATAAGAAAAATGTCCCAGGATCATTGCTACTTACAAGGTCTTTGGGAGAGATATTTTACTCTATTAATCCATTCTATTTTATATTTCAAATTGATTTTTTTTAACAGAGGAAAGTGGCTATCTTTTTGTTTTGGGCATGTGGGCCCATTCACCAAAATGTGATCATAAAATAAATTTTAATAAGATATAACTTTTTAAAAAGTTTTCAAGTGAAGACGGAGTCGCCGCGGAGGCCGGGGCGGCGGGGTCTTAGAGCCGACGGATTCCTGCGCTCCTCGCCCCGATTGGCGCCGACTCCTCTCAGCTGCCGGGTGATTGGCTCAAAGTTCCGGGAGGGGGCGTGGCCCGAGGAAAGTAAAAACTCGCTTTCAGCAAGAAGACTTTTGAAACTTTTCCCAATCCCTAAAAGGGACTTGGCCTCTTTTTCTGGGCTCAGCGGGGCAGCCGCTCGGACCCCGGCGCGCTGACCCTCGGGGCTGCCGATTCGCTGGGGGCTTGGAGAGCCTCCTGCGCCCCTCCTCGCGCGGGCCGAGGGTCCACCTGGGTCCCCAGGCCGCGGCGTCTCCGCTGGGTCCGCGGCCGCCCGCCTGCCCGCGCTGCCGCCGCCGGGTCCTGGAGCCAGCGAGGAGCGGGGCCGGCGCTGCGCTTGCCCGGGGCGCGCCCTCCAGGATGCCGATCCGCCCGGTCCGCTGAAAGCGCGCGCCCCTGCTCGGCCCGAGCGCCGCCGCCCGCGCACCCTCGCCCCGGAGGCTGCCAGGAGCCCGGGGCCGCCCCTCCCGCTCCCCTCCTCTCCCCCTCTGGCTCTCTCGCGCTCTCTCGCTCTCAGGGCCCCCCTCGCTCCCCCGGCCGCAGTCCGTGCGCGAGGGCGCCGGCGAGCCGTCTCGGAAGCAGCATGCAGGCGCGCTACTCCGTGTCCGACCCCAACGCCCTGGGAGTGGTGCCCTACCTGAGCGAGCAGAATTACTACCGGGCTGCGGGCAGCTACGGCGGCATGGCCAGCCCCATGGGCGTCTATTCCGGCCACCCGGAGCAGTACAGCGCGGGGATGGGCCGCTCCTACGCGCCCTACCACCACCACCAGCCCGCGGCGCCTAAGGACCTGGTGAAGCCGCCCTACAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCGCCCGAGAAGAAGATCACCTTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGAGAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCCCGCGACGACAAGAAGCCCGGCAAGGGCAGTTACTGGACCCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGCCGGCGGCGCTTCAAAAAGAAGGACGTGTCCAAGGAGAAGGAGGAGCGGGCCCACCTCAAGGAGCCGCCCCCGGCGGCGTCCAAGGGCGCCCCGGCCACCCCCCACCTAGCGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAGGTGGAGACGCTGAGCCCCGAGAGCGCGCTGCAGGGCAGCCCGCGCAGCGCGGCCTCCACGCCCGCCGGCTCCCCCGACGGCTCGCTGCCGGAGCACCACGCCGCGGCGCCCAACGGGCTGCCTGGCTTCAGCGTGGAGAACATCATGACCCTGCGAACGTCGCCGCCGGGCGGAGAGCTGAGCCCGGGGGCCGGACGCGCGGGCCTGGTGGTGCCGCCGCTGGCGCTGCCCTACGCCGCCGCGCCGCCCGCCGCCTACGGCCAGCCGTGCGCTCAGGGCCTGGAGGCCGGGGCCGCCGGGGGCTACCAGTGCAGCATGCGAGCGATGAGCCTGTACACCGGGGCCGAGCGGCCGGCGCACATGTGCGTCCCGCCCGCCCTGGACGAGGCCCTCTCGGACCACCCGAGCGGCCCCACGTCGCCCCTGAGCGCTCTCAACCTCGCCGCCGGCCAGGAGGGCGCGCTCGCCGCCACGGGCCACCACCACCAGCACCACGGCCACCACCACCCGCAGGCGCCGCCGCCCCCGCCGGCTCCCCAGCCCCAGCCGACGCCGCAGCCCGGGGCCGCCGCGGCGCAGGCGGCCTCCTGGTATCTCAACCACAGCGGGGACCTGAACCACCTCCCCGGCCACACGTTCGCGGCCCAGCAGCAAACTTTCCCCAACGTGCGGGAGATGTTCAACTCCCACCGGCTGGGGATTGAGAACTCGACCCTCGGGGAGTCCCAGGTGAGTGGCAATGCCAGCTGCCAGCTGCCCTACAGATCCACGCCGCCTCTCTATCGCCACGCAGCCCCCTACTCCTACGACTGCACGAAATACTGACGTGTCCCGGGACCTCCCCTCCCCGGCCCGCTCCGGCTTCGCTTCCCAGCCCCGACCCAACCAGACAATTAAGGGGCTGCAGAGACGCAAAAAAGAAACAAAACATGTCCACCAACCTTTTCTCAGACCCGGGAGCAGAGAGCGGGCACGCTAGCCCCCAGCCGTCTGTGAAGAGCGCAGGTAACTTTAATTCGCCGCCCCGTTTCTGGGATCCCAGGAAACCCCTCCAAAGGGACGCAGCCCAACAAAATGAGTATTGATCTTAAAATCCCCCTCCCCTACCAGGACGGCTGTGCTGTGCTCGACCTGAGCTTTCAAAAGTTAAGTTATGGACCAAATCCCATAGCGAGCCCCTAGTGACTTTCTGTAGGGGTCCCCATAGGTGTATGGGGGTCTCTATAGATAATATATGTGCTGTGTGTAATTTTAAATTTCTCCAACCGTGCTGTACAAATGTGTGGATTTGTAATCAGGCTATTTTGTTGTTGTTGTTGTTGTTCAGAGCCATTAATATAATATTTAAAGTTGAGTTCACTGGATAAGTTTTTCATCTTGCCCAACCATTTCTAACTGCCAAATTGAATTCAAGAAACCGATGTGGGTTTTGTTTCCTGTACAATTATGAGATATAATTCTTTTTCCCATTGTAGGTCTTTTACAAAA
|
GGGGTGTCTCACTCCTTCAGGGAAAGTGGGAAAAGGGGATCTGATTATTGAGGTGTGGAAGGAATAAATAATCAGTCCACAAATAAACAAACTGTCCGGGATTCCTAGAGGGAAGGAGAAATCCTTGAAGGAGATCCAAGTCGCTCCAGGTCTGCCTGCCGAATAATATCATCCCGAAGGGATCTTGAACCGTTTGCAATCAACCGCTCACCCAGTCTTCCCACGGAGCGCGCTCCCTAACTCACCCTACCCACCCAACAAAACAAAAAAAAGGCTGAAATATAGAAAAGCAACTTGGAGGCTCCCAGGGGGACGTTGCCAGGAGCAGGAGGCAGGGACAGCGCCCTAGGGTCGGTGTTAGCGGCCGGCGCCGGCCTGGGCCACGGGAAACGTCCACGCTTGGTGCCCGCGGTGCGCGGCGCTCATTGCGCGCGCCTTCGAGCCAAGCCCCCGCGGAAAACAGGCTCGGGTTTCTCCTCGCAGGGCCCAGGAACTCGGCTCTGCCTGGCCCGGGTGGGTCGCTGCATTGTCCCGGTCTTCTGGGAGTGCGGGGTCAGCTTGTTAGAGGGAATTTCTACCTGGGAAAAGGGAGACGAGTTTCGAAGCTGAAGTTGGTAGGCTGCGAGTGTCCACGCGGGAGACGAAAGGGGGAAATAGCAGAGTCACTTCACCCTTTTCCCCAAACCCCACAAAACTGCTCGCAGCGACGCGGATGATCTACCGAATTCCCCGCGAATTCGGAGGATTAAGTTGTCAGTCAGCACGTTGCTACCTTCCCCTCTATGCACTCCGCTGCCTGGCTCCTCGGCGGGGAGCGAGGGAAACTCAGTTTGTAGGGTTTACCTCTAAAACCTCGATAGGTTATCCTTGACGACCCCGAGCCTGGAAACTCCCTGTTGATGATTAATTATTTGATTAAATAAGTATAACATCCAGGAGAGGCCCTGCCATTCCAATCCAGCGCGTTTGCTTTGAATCCATTACACCTGGGCCCCCATAATTAGGAAATCTAATTATTCGCTTCATCACTCATTAATAAGAAAAATGTCCCAGGATCATTGCTACTTACAAGGTCTTTGGGAGAGATATTTTACTCTATTAATCCATTCTATTTTATATTTCAAATTGATTTTTTTTAACAGAGGAAAGTGGCTATCTTTTTGTTTTGGGCATGTGGGCCCATTCACCAAAATGTGATCATAAAATAAATTTTAATAAGATATAACTTTTTAAAAAGTTTTCAAGTGAAGACGGAGTCGCCGCGGAGGCCGGGGCGGCGGGGTCTTAGAGCCGACGGATTCCTGCGCTCCTCGCCCCGATTGGCGCCGACTCCTCTCAGCTGCCGGGTGATTGGCTCAAAGTTCCGGGAGGGGGCGTGGCCCGAGGAAAGTAAAAACTCGCTTTCAGCAAGAAGACTTTTGAAACTTTTCCCAATCCCTAAAAGGGACTTGGCCTCTTTTTCTGGGCTCAGCGGGGCAGCCGCTCGGACCCCGGCGCGCTGACCCTCGGGGCTGCCGATTCGCTGGGGGCTTGGAGAGCCTCCTGCGCCCCTCCTCGCGCGGGCCGAGGGTCCACCTGGGTCCCCAGGCCGCGGCGTCTCCGCTGGGTCCGCGGCCGCCCGCCTGCCCGCGCTGCCGCCGCCGGGTCCTGGAGCCAGCGAGGAGCGGGGCCGGCGCTGCGCTTGCCCGGGGCGCGCCCTCCAGGATGCCGATCCGCCCGGTCCGCTGAAAGCGCGCGCCCCTGCTCGGCCCGAGCGCCGCCGCCCGCGCACCCTCGCCCCGGAGGCTGCCAGGAGCCCGGGGCCGCCCCTCCCGCTCCCCTCCTCTCCCCCTCTGGCTCTCTCGCGCTCTCTCGCTCTCAGGGCCCCCCTCGCTCCCCCGGCCGCAGTCCGTGCGCGAGGGCGCCGGCGAGCCGTCTCGGAAGCAGCATGCAGGCGCGCTACTCCGTGTCCGACCCCAACGCCCTGGGAGTGGTGCCCTACCTGAGCGAGCAGAATTACTACCGGGCTGCGGGCAGCTACGGCGGCATGGCCAGCCCCATGGGCGTCTTTTCCGGCCACCCGGAGCAGTACAGCGCGGGGATGGGCCGCTCCTACGCGCCCTACCACCACCACCAGCCCGCGGCGCCTAAGGACCTGGTGAAGCCGCCCTACAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCGCCCGAGAAGAAGATCACCTTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGAGAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCCCGCGACGACAAGAAGCCCGGCAAGGGCAGTTACTGGACCCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGCCGGCGGCGCTTCAAAAAGAAGGACGTGTCCAAGGAGAAGGAGGAGCGGGCCCACCTCAAGGAGCCGCCCCCGGCGGCGTCCAAGGGCGCCCCGGCCACCCCCCACCTAGCGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAGGTGGAGACGCTGAGCCCCGAGAGCGCGCTGCAGGGCAGCCCGCGCAGCGCGGCCTCCACGCCCGCCGGCTCCCCCGACGGCTCGCTGCCGGAGCACCACGCCGCGGCGCCCAACGGGCTGCCTGGCTTCAGCGTGGAGAACATCATGACCCTGCGAACGTCGCCGCCGGGCGGAGAGCTGAGCCCGGGGGCCGGACGCGCGGGCCTGGTGGTGCCGCCGCTGGCGCTGCCCTACGCCGCCGCGCCGCCCGCCGCCTACGGCCAGCCGTGCGCTCAGGGCCTGGAGGCCGGGGCCGCCGGGGGCTACCAGTGCAGCATGCGAGCGATGAGCCTGTACACCGGGGCCGAGCGGCCGGCGCACATGTGCGTCCCGCCCGCCCTGGACGAGGCCCTCTCGGACCACCCGAGCGGCCCCACGTCGCCCCTGAGCGCTCTCAACCTCGCCGCCGGCCAGGAGGGCGCGCTCGCCGCCACGGGCCACCACCACCAGCACCACGGCCACCACCACCCGCAGGCGCCGCCGCCCCCGCCGGCTCCCCAGCCCCAGCCGACGCCGCAGCCCGGGGCCGCCGCGGCGCAGGCGGCCTCCTGGTATCTCAACCACAGCGGGGACCTGAACCACCTCCCCGGCCACACGTTCGCGGCCCAGCAGCAAACTTTCCCCAACGTGCGGGAGATGTTCAACTCCCACCGGCTGGGGATTGAGAACTCGACCCTCGGGGAGTCCCAGGTGAGTGGCAATGCCAGCTGCCAGCTGCCCTACAGATCCACGCCGCCTCTCTATCGCCACGCAGCCCCCTACTCCTACGACTGCACGAAATACTGACGTGTCCCGGGACCTCCCCTCCCCGGCCCGCTCCGGCTTCGCTTCCCAGCCCCGACCCAACCAGACAATTAAGGGGCTGCAGAGACGCAAAAAAGAAACAAAACATGTCCACCAACCTTTTCTCAGACCCGGGAGCAGAGAGCGGGCACGCTAGCCCCCAGCCGTCTGTGAAGAGCGCAGGTAACTTTAATTCGCCGCCCCGTTTCTGGGATCCCAGGAAACCCCTCCAAAGGGACGCAGCCCAACAAAATGAGTATTGATCTTAAAATCCCCCTCCCCTACCAGGACGGCTGTGCTGTGCTCGACCTGAGCTTTCAAAAGTTAAGTTATGGACCAAATCCCATAGCGAGCCCCTAGTGACTTTCTGTAGGGGTCCCCATAGGTGTATGGGGGTCTCTATAGATAATATATGTGCTGTGTGTAATTTTAAATTTCTCCAACCGTGCTGTACAAATGTGTGGATTTGTAATCAGGCTATTTTGTTGTTGTTGTTGTTGTTCAGAGCCATTAATATAATATTTAAAGTTGAGTTCACTGGATAAGTTTTTCATCTTGCCCAACCATTTCTAACTGCCAAATTGAATTCAAGAAACCGATGTGGGTTTTGTTTCCTGTACAATTATGAGATATAATTCTTTTTCCCATTGTAGGTCTTTTACAAAA
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Task1_train_22983
|
This mutation occurs in FOXC2, FOXC2-AS1 (forkhead box C2| FOXC2 antisense RNA 1) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Distichiasis-lymphedema syndrome
|
CTCACCCTACCCACCCAACAAAACAAAAAAAAGGCTGAAATATAGAAAAGCAACTTGGAGGCTCCCAGGGGGACGTTGCCAGGAGCAGGAGGCAGGGACAGCGCCCTAGGGTCGGTGTTAGCGGCCGGCGCCGGCCTGGGCCACGGGAAACGTCCACGCTTGGTGCCCGCGGTGCGCGGCGCTCATTGCGCGCGCCTTCGAGCCAAGCCCCCGCGGAAAACAGGCTCGGGTTTCTCCTCGCAGGGCCCAGGAACTCGGCTCTGCCTGGCCCGGGTGGGTCGCTGCATTGTCCCGGTCTTCTGGGAGTGCGGGGTCAGCTTGTTAGAGGGAATTTCTACCTGGGAAAAGGGAGACGAGTTTCGAAGCTGAAGTTGGTAGGCTGCGAGTGTCCACGCGGGAGACGAAAGGGGGAAATAGCAGAGTCACTTCACCCTTTTCCCCAAACCCCACAAAACTGCTCGCAGCGACGCGGATGATCTACCGAATTCCCCGCGAATTCGGAGGATTAAGTTGTCAGTCAGCACGTTGCTACCTTCCCCTCTATGCACTCCGCTGCCTGGCTCCTCGGCGGGGAGCGAGGGAAACTCAGTTTGTAGGGTTTACCTCTAAAACCTCGATAGGTTATCCTTGACGACCCCGAGCCTGGAAACTCCCTGTTGATGATTAATTATTTGATTAAATAAGTATAACATCCAGGAGAGGCCCTGCCATTCCAATCCAGCGCGTTTGCTTTGAATCCATTACACCTGGGCCCCCATAATTAGGAAATCTAATTATTCGCTTCATCACTCATTAATAAGAAAAATGTCCCAGGATCATTGCTACTTACAAGGTCTTTGGGAGAGATATTTTACTCTATTAATCCATTCTATTTTATATTTCAAATTGATTTTTTTTAACAGAGGAAAGTGGCTATCTTTTTGTTTTGGGCATGTGGGCCCATTCACCAAAATGTGATCATAAAATAAATTTTAATAAGATATAACTTTTTAAAAAGTTTTCAAGTGAAGACGGAGTCGCCGCGGAGGCCGGGGCGGCGGGGTCTTAGAGCCGACGGATTCCTGCGCTCCTCGCCCCGATTGGCGCCGACTCCTCTCAGCTGCCGGGTGATTGGCTCAAAGTTCCGGGAGGGGGCGTGGCCCGAGGAAAGTAAAAACTCGCTTTCAGCAAGAAGACTTTTGAAACTTTTCCCAATCCCTAAAAGGGACTTGGCCTCTTTTTCTGGGCTCAGCGGGGCAGCCGCTCGGACCCCGGCGCGCTGACCCTCGGGGCTGCCGATTCGCTGGGGGCTTGGAGAGCCTCCTGCGCCCCTCCTCGCGCGGGCCGAGGGTCCACCTGGGTCCCCAGGCCGCGGCGTCTCCGCTGGGTCCGCGGCCGCCCGCCTGCCCGCGCTGCCGCCGCCGGGTCCTGGAGCCAGCGAGGAGCGGGGCCGGCGCTGCGCTTGCCCGGGGCGCGCCCTCCAGGATGCCGATCCGCCCGGTCCGCTGAAAGCGCGCGCCCCTGCTCGGCCCGAGCGCCGCCGCCCGCGCACCCTCGCCCCGGAGGCTGCCAGGAGCCCGGGGCCGCCCCTCCCGCTCCCCTCCTCTCCCCCTCTGGCTCTCTCGCGCTCTCTCGCTCTCAGGGCCCCCCTCGCTCCCCCGGCCGCAGTCCGTGCGCGAGGGCGCCGGCGAGCCGTCTCGGAAGCAGCATGCAGGCGCGCTACTCCGTGTCCGACCCCAACGCCCTGGGAGTGGTGCCCTACCTGAGCGAGCAGAATTACTACCGGGCTGCGGGCAGCTACGGCGGCATGGCCAGCCCCATGGGCGTCTATTCCGGCCACCCGGAGCAGTACAGCGCGGGGATGGGCCGCTCCTACGCGCCCTACCACCACCACCAGCCCGCGGCGCCTAAGGACCTGGTGAAGCCGCCCTACAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCGCCCGAGAAGAAGATCACCTTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGAGAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCCCGCGACGACAAGAAGCCCGGCAAGGGCAGTTACTGGACCCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGCCGGCGGCGCTTCAAAAAGAAGGACGTGTCCAAGGAGAAGGAGGAGCGGGCCCACCTCAAGGAGCCGCCCCCGGCGGCGTCCAAGGGCGCCCCGGCCACCCCCCACCTAGCGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAGGTGGAGACGCTGAGCCCCGAGAGCGCGCTGCAGGGCAGCCCGCGCAGCGCGGCCTCCACGCCCGCCGGCTCCCCCGACGGCTCGCTGCCGGAGCACCACGCCGCGGCGCCCAACGGGCTGCCTGGCTTCAGCGTGGAGAACATCATGACCCTGCGAACGTCGCCGCCGGGCGGAGAGCTGAGCCCGGGGGCCGGACGCGCGGGCCTGGTGGTGCCGCCGCTGGCGCTGCCCTACGCCGCCGCGCCGCCCGCCGCCTACGGCCAGCCGTGCGCTCAGGGCCTGGAGGCCGGGGCCGCCGGGGGCTACCAGTGCAGCATGCGAGCGATGAGCCTGTACACCGGGGCCGAGCGGCCGGCGCACATGTGCGTCCCGCCCGCCCTGGACGAGGCCCTCTCGGACCACCCGAGCGGCCCCACGTCGCCCCTGAGCGCTCTCAACCTCGCCGCCGGCCAGGAGGGCGCGCTCGCCGCCACGGGCCACCACCACCAGCACCACGGCCACCACCACCCGCAGGCGCCGCCGCCCCCGCCGGCTCCCCAGCCCCAGCCGACGCCGCAGCCCGGGGCCGCCGCGGCGCAGGCGGCCTCCTGGTATCTCAACCACAGCGGGGACCTGAACCACCTCCCCGGCCACACGTTCGCGGCCCAGCAGCAAACTTTCCCCAACGTGCGGGAGATGTTCAACTCCCACCGGCTGGGGATTGAGAACTCGACCCTCGGGGAGTCCCAGGTGAGTGGCAATGCCAGCTGCCAGCTGCCCTACAGATCCACGCCGCCTCTCTATCGCCACGCAGCCCCCTACTCCTACGACTGCACGAAATACTGACGTGTCCCGGGACCTCCCCTCCCCGGCCCGCTCCGGCTTCGCTTCCCAGCCCCGACCCAACCAGACAATTAAGGGGCTGCAGAGACGCAAAAAAGAAACAAAACATGTCCACCAACCTTTTCTCAGACCCGGGAGCAGAGAGCGGGCACGCTAGCCCCCAGCCGTCTGTGAAGAGCGCAGGTAACTTTAATTCGCCGCCCCGTTTCTGGGATCCCAGGAAACCCCTCCAAAGGGACGCAGCCCAACAAAATGAGTATTGATCTTAAAATCCCCCTCCCCTACCAGGACGGCTGTGCTGTGCTCGACCTGAGCTTTCAAAAGTTAAGTTATGGACCAAATCCCATAGCGAGCCCCTAGTGACTTTCTGTAGGGGTCCCCATAGGTGTATGGGGGTCTCTATAGATAATATATGTGCTGTGTGTAATTTTAAATTTCTCCAACCGTGCTGTACAAATGTGTGGATTTGTAATCAGGCTATTTTGTTGTTGTTGTTGTTGTTCAGAGCCATTAATATAATATTTAAAGTTGAGTTCACTGGATAAGTTTTTCATCTTGCCCAACCATTTCTAACTGCCAAATTGAATTCAAGAAACCGATGTGGGTTTTGTTTCCTGTACAATTATGAGATATAATTCTTTTTCCCATTGTAGGTCTTTTACAAAACAAGAAAATAATTTATTTTTTTGTTGGTGGATAAAGAAGTCAAGTATCTGATACTTTTTATTTACAAAGTGTGATGGTTTTGTATAGTAGGTTCCACCCTGAGTATTCCTAAAAGAAAAAAAAAAAAAAAGCTTAAAAACTCTAACTTCATCTGTGTTTGTCTTACGTGGTCTTAATCGTTGTACTTACCTTAAAATAAACCCATGTTGTTTTTTCTGCCCAAAGTTTGGACAGTGTGTT
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CTCACCCTACCCACCCAACAAAACAAAAAAAAGGCTGAAATATAGAAAAGCAACTTGGAGGCTCCCAGGGGGACGTTGCCAGGAGCAGGAGGCAGGGACAGCGCCCTAGGGTCGGTGTTAGCGGCCGGCGCCGGCCTGGGCCACGGGAAACGTCCACGCTTGGTGCCCGCGGTGCGCGGCGCTCATTGCGCGCGCCTTCGAGCCAAGCCCCCGCGGAAAACAGGCTCGGGTTTCTCCTCGCAGGGCCCAGGAACTCGGCTCTGCCTGGCCCGGGTGGGTCGCTGCATTGTCCCGGTCTTCTGGGAGTGCGGGGTCAGCTTGTTAGAGGGAATTTCTACCTGGGAAAAGGGAGACGAGTTTCGAAGCTGAAGTTGGTAGGCTGCGAGTGTCCACGCGGGAGACGAAAGGGGGAAATAGCAGAGTCACTTCACCCTTTTCCCCAAACCCCACAAAACTGCTCGCAGCGACGCGGATGATCTACCGAATTCCCCGCGAATTCGGAGGATTAAGTTGTCAGTCAGCACGTTGCTACCTTCCCCTCTATGCACTCCGCTGCCTGGCTCCTCGGCGGGGAGCGAGGGAAACTCAGTTTGTAGGGTTTACCTCTAAAACCTCGATAGGTTATCCTTGACGACCCCGAGCCTGGAAACTCCCTGTTGATGATTAATTATTTGATTAAATAAGTATAACATCCAGGAGAGGCCCTGCCATTCCAATCCAGCGCGTTTGCTTTGAATCCATTACACCTGGGCCCCCATAATTAGGAAATCTAATTATTCGCTTCATCACTCATTAATAAGAAAAATGTCCCAGGATCATTGCTACTTACAAGGTCTTTGGGAGAGATATTTTACTCTATTAATCCATTCTATTTTATATTTCAAATTGATTTTTTTTAACAGAGGAAAGTGGCTATCTTTTTGTTTTGGGCATGTGGGCCCATTCACCAAAATGTGATCATAAAATAAATTTTAATAAGATATAACTTTTTAAAAAGTTTTCAAGTGAAGACGGAGTCGCCGCGGAGGCCGGGGCGGCGGGGTCTTAGAGCCGACGGATTCCTGCGCTCCTCGCCCCGATTGGCGCCGACTCCTCTCAGCTGCCGGGTGATTGGCTCAAAGTTCCGGGAGGGGGCGTGGCCCGAGGAAAGTAAAAACTCGCTTTCAGCAAGAAGACTTTTGAAACTTTTCCCAATCCCTAAAAGGGACTTGGCCTCTTTTTCTGGGCTCAGCGGGGCAGCCGCTCGGACCCCGGCGCGCTGACCCTCGGGGCTGCCGATTCGCTGGGGGCTTGGAGAGCCTCCTGCGCCCCTCCTCGCGCGGGCCGAGGGTCCACCTGGGTCCCCAGGCCGCGGCGTCTCCGCTGGGTCCGCGGCCGCCCGCCTGCCCGCGCTGCCGCCGCCGGGTCCTGGAGCCAGCGAGGAGCGGGGCCGGCGCTGCGCTTGCCCGGGGCGCGCCCTCCAGGATGCCGATCCGCCCGGTCCGCTGAAAGCGCGCGCCCCTGCTCGGCCCGAGCGCCGCCGCCCGCGCACCCTCGCCCCGGAGGCTGCCAGGAGCCCGGGGCCGCCCCTCCCGCTCCCCTCCTCTCCCCCTCTGGCTCTCTCGCGCTCTCTCGCTCTCAGGGCCCCCCTCGCTCCCCCGGCCGCAGTCCGTGCGCGAGGGCGCCGGCGAGCCGTCTCGGAAGCAGCATGCAGGCGCGCTACTCCGTGTCCGACCCCAACGCCCTGGGAGTGGTGCCCTACCTGAGCGAGCAGAATTACTACCGGGCTGCGGGCAGCTACGGCGGCATGGCCAGCCCCATGGGCGTCTATTCCGGCCACCCGGAGCAGTACAGCGCGGGGATGGGCCGCTCCTACGCGCCCTACCACCACCACCAGCCCGCGGCGCCTAAGGACCTGGTGAAGCCGCCCTACAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCGCCCGAGAAGAAGATCACCTTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGAGAACAAGCAGGGCTGGCAGAACAGCATCCACCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCCCGCGACGACAAGAAGCCCGGCAAGGGCAGTTACTGGACCCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGCCGGCGGCGCTTCAAAAAGAAGGACGTGTCCAAGGAGAAGGAGGAGCGGGCCCACCTCAAGGAGCCGCCCCCGGCGGCGTCCAAGGGCGCCCCGGCCACCCCCCACCTAGCGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAGGTGGAGACGCTGAGCCCCGAGAGCGCGCTGCAGGGCAGCCCGCGCAGCGCGGCCTCCACGCCCGCCGGCTCCCCCGACGGCTCGCTGCCGGAGCACCACGCCGCGGCGCCCAACGGGCTGCCTGGCTTCAGCGTGGAGAACATCATGACCCTGCGAACGTCGCCGCCGGGCGGAGAGCTGAGCCCGGGGGCCGGACGCGCGGGCCTGGTGGTGCCGCCGCTGGCGCTGCCCTACGCCGCCGCGCCGCCCGCCGCCTACGGCCAGCCGTGCGCTCAGGGCCTGGAGGCCGGGGCCGCCGGGGGCTACCAGTGCAGCATGCGAGCGATGAGCCTGTACACCGGGGCCGAGCGGCCGGCGCACATGTGCGTCCCGCCCGCCCTGGACGAGGCCCTCTCGGACCACCCGAGCGGCCCCACGTCGCCCCTGAGCGCTCTCAACCTCGCCGCCGGCCAGGAGGGCGCGCTCGCCGCCACGGGCCACCACCACCAGCACCACGGCCACCACCACCCGCAGGCGCCGCCGCCCCCGCCGGCTCCCCAGCCCCAGCCGACGCCGCAGCCCGGGGCCGCCGCGGCGCAGGCGGCCTCCTGGTATCTCAACCACAGCGGGGACCTGAACCACCTCCCCGGCCACACGTTCGCGGCCCAGCAGCAAACTTTCCCCAACGTGCGGGAGATGTTCAACTCCCACCGGCTGGGGATTGAGAACTCGACCCTCGGGGAGTCCCAGGTGAGTGGCAATGCCAGCTGCCAGCTGCCCTACAGATCCACGCCGCCTCTCTATCGCCACGCAGCCCCCTACTCCTACGACTGCACGAAATACTGACGTGTCCCGGGACCTCCCCTCCCCGGCCCGCTCCGGCTTCGCTTCCCAGCCCCGACCCAACCAGACAATTAAGGGGCTGCAGAGACGCAAAAAAGAAACAAAACATGTCCACCAACCTTTTCTCAGACCCGGGAGCAGAGAGCGGGCACGCTAGCCCCCAGCCGTCTGTGAAGAGCGCAGGTAACTTTAATTCGCCGCCCCGTTTCTGGGATCCCAGGAAACCCCTCCAAAGGGACGCAGCCCAACAAAATGAGTATTGATCTTAAAATCCCCCTCCCCTACCAGGACGGCTGTGCTGTGCTCGACCTGAGCTTTCAAAAGTTAAGTTATGGACCAAATCCCATAGCGAGCCCCTAGTGACTTTCTGTAGGGGTCCCCATAGGTGTATGGGGGTCTCTATAGATAATATATGTGCTGTGTGTAATTTTAAATTTCTCCAACCGTGCTGTACAAATGTGTGGATTTGTAATCAGGCTATTTTGTTGTTGTTGTTGTTGTTCAGAGCCATTAATATAATATTTAAAGTTGAGTTCACTGGATAAGTTTTTCATCTTGCCCAACCATTTCTAACTGCCAAATTGAATTCAAGAAACCGATGTGGGTTTTGTTTCCTGTACAATTATGAGATATAATTCTTTTTCCCATTGTAGGTCTTTTACAAAACAAGAAAATAATTTATTTTTTTGTTGGTGGATAAAGAAGTCAAGTATCTGATACTTTTTATTTACAAAGTGTGATGGTTTTGTATAGTAGGTTCCACCCTGAGTATTCCTAAAAGAAAAAAAAAAAAAAAGCTTAAAAACTCTAACTTCATCTGTGTTTGTCTTACGTGGTCTTAATCGTTGTACTTACCTTAAAATAAACCCATGTTGTTTTTTCTGCCCAAAGTTTGGACAGTGTGTT
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Task1_train_22984
|
A sequence alteration has been identified in FOXC2, FOXC2-AS1 (forkhead box C2| FOXC2 antisense RNA 1) on Chromosome 16. Is it disease-inducing or harmless?
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Pathogenic; Distichiasis-lymphedema syndrome
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ACCCAACAAAACAAAAAAAAGGCTGAAATATAGAAAAGCAACTTGGAGGCTCCCAGGGGGACGTTGCCAGGAGCAGGAGGCAGGGACAGCGCCCTAGGGTCGGTGTTAGCGGCCGGCGCCGGCCTGGGCCACGGGAAACGTCCACGCTTGGTGCCCGCGGTGCGCGGCGCTCATTGCGCGCGCCTTCGAGCCAAGCCCCCGCGGAAAACAGGCTCGGGTTTCTCCTCGCAGGGCCCAGGAACTCGGCTCTGCCTGGCCCGGGTGGGTCGCTGCATTGTCCCGGTCTTCTGGGAGTGCGGGGTCAGCTTGTTAGAGGGAATTTCTACCTGGGAAAAGGGAGACGAGTTTCGAAGCTGAAGTTGGTAGGCTGCGAGTGTCCACGCGGGAGACGAAAGGGGGAAATAGCAGAGTCACTTCACCCTTTTCCCCAAACCCCACAAAACTGCTCGCAGCGACGCGGATGATCTACCGAATTCCCCGCGAATTCGGAGGATTAAGTTGTCAGTCAGCACGTTGCTACCTTCCCCTCTATGCACTCCGCTGCCTGGCTCCTCGGCGGGGAGCGAGGGAAACTCAGTTTGTAGGGTTTACCTCTAAAACCTCGATAGGTTATCCTTGACGACCCCGAGCCTGGAAACTCCCTGTTGATGATTAATTATTTGATTAAATAAGTATAACATCCAGGAGAGGCCCTGCCATTCCAATCCAGCGCGTTTGCTTTGAATCCATTACACCTGGGCCCCCATAATTAGGAAATCTAATTATTCGCTTCATCACTCATTAATAAGAAAAATGTCCCAGGATCATTGCTACTTACAAGGTCTTTGGGAGAGATATTTTACTCTATTAATCCATTCTATTTTATATTTCAAATTGATTTTTTTTAACAGAGGAAAGTGGCTATCTTTTTGTTTTGGGCATGTGGGCCCATTCACCAAAATGTGATCATAAAATAAATTTTAATAAGATATAACTTTTTAAAAAGTTTTCAAGTGAAGACGGAGTCGCCGCGGAGGCCGGGGCGGCGGGGTCTTAGAGCCGACGGATTCCTGCGCTCCTCGCCCCGATTGGCGCCGACTCCTCTCAGCTGCCGGGTGATTGGCTCAAAGTTCCGGGAGGGGGCGTGGCCCGAGGAAAGTAAAAACTCGCTTTCAGCAAGAAGACTTTTGAAACTTTTCCCAATCCCTAAAAGGGACTTGGCCTCTTTTTCTGGGCTCAGCGGGGCAGCCGCTCGGACCCCGGCGCGCTGACCCTCGGGGCTGCCGATTCGCTGGGGGCTTGGAGAGCCTCCTGCGCCCCTCCTCGCGCGGGCCGAGGGTCCACCTGGGTCCCCAGGCCGCGGCGTCTCCGCTGGGTCCGCGGCCGCCCGCCTGCCCGCGCTGCCGCCGCCGGGTCCTGGAGCCAGCGAGGAGCGGGGCCGGCGCTGCGCTTGCCCGGGGCGCGCCCTCCAGGATGCCGATCCGCCCGGTCCGCTGAAAGCGCGCGCCCCTGCTCGGCCCGAGCGCCGCCGCCCGCGCACCCTCGCCCCGGAGGCTGCCAGGAGCCCGGGGCCGCCCCTCCCGCTCCCCTCCTCTCCCCCTCTGGCTCTCTCGCGCTCTCTCGCTCTCAGGGCCCCCCTCGCTCCCCCGGCCGCAGTCCGTGCGCGAGGGCGCCGGCGAGCCGTCTCGGAAGCAGCATGCAGGCGCGCTACTCCGTGTCCGACCCCAACGCCCTGGGAGTGGTGCCCTACCTGAGCGAGCAGAATTACTACCGGGCTGCGGGCAGCTACGGCGGCATGGCCAGCCCCATGGGCGTCTATTCCGGCCACCCGGAGCAGTACAGCGCGGGGATGGGCCGCTCCTACGCGCCCTACCACCACCACCAGCCCGCGGCGCCTAAGGACCTGGTGAAGCCGCCCTACAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCGCCCGAGAAGAAGATCACCTTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGAGAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCCCGCGACGACAAGAAGCCCGGCAAGGGCAGTTACTGGACCCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGCCGGCGGCGCTTCAAAAAGAAGGACGTGTCCAAGGAGAAGGAGGAGCGGGCCCACCTCAAGGAGCCGCCCCCGGCGGCGTCCAAGGGCGCCCCGGCCACCCCCCACCTAGCGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAGGTGGAGACGCTGAGCCCCGAGAGCGCGCTGCAGGGCAGCCCGCGCAGCGCGGCCTCCACGCCCGCCGGCTCCCCCGACGGCTCGCTGCCGGAGCACCACGCCGCGGCGCCCAACGGGCTGCCTGGCTTCAGCGTGGAGAACATCATGACCCTGCGAACGTCGCCGCCGGGCGGAGAGCTGAGCCCGGGGGCCGGACGCGCGGGCCTGGTGGTGCCGCCGCTGGCGCTGCCCTACGCCGCCGCGCCGCCCGCCGCCTACGGCCAGCCGTGCGCTCAGGGCCTGGAGGCCGGGGCCGCCGGGGGCTACCAGTGCAGCATGCGAGCGATGAGCCTGTACACCGGGGCCGAGCGGCCGGCGCACATGTGCGTCCCGCCCGCCCTGGACGAGGCCCTCTCGGACCACCCGAGCGGCCCCACGTCGCCCCTGAGCGCTCTCAACCTCGCCGCCGGCCAGGAGGGCGCGCTCGCCGCCACGGGCCACCACCACCAGCACCACGGCCACCACCACCCGCAGGCGCCGCCGCCCCCGCCGGCTCCCCAGCCCCAGCCGACGCCGCAGCCCGGGGCCGCCGCGGCGCAGGCGGCCTCCTGGTATCTCAACCACAGCGGGGACCTGAACCACCTCCCCGGCCACACGTTCGCGGCCCAGCAGCAAACTTTCCCCAACGTGCGGGAGATGTTCAACTCCCACCGGCTGGGGATTGAGAACTCGACCCTCGGGGAGTCCCAGGTGAGTGGCAATGCCAGCTGCCAGCTGCCCTACAGATCCACGCCGCCTCTCTATCGCCACGCAGCCCCCTACTCCTACGACTGCACGAAATACTGACGTGTCCCGGGACCTCCCCTCCCCGGCCCGCTCCGGCTTCGCTTCCCAGCCCCGACCCAACCAGACAATTAAGGGGCTGCAGAGACGCAAAAAAGAAACAAAACATGTCCACCAACCTTTTCTCAGACCCGGGAGCAGAGAGCGGGCACGCTAGCCCCCAGCCGTCTGTGAAGAGCGCAGGTAACTTTAATTCGCCGCCCCGTTTCTGGGATCCCAGGAAACCCCTCCAAAGGGACGCAGCCCAACAAAATGAGTATTGATCTTAAAATCCCCCTCCCCTACCAGGACGGCTGTGCTGTGCTCGACCTGAGCTTTCAAAAGTTAAGTTATGGACCAAATCCCATAGCGAGCCCCTAGTGACTTTCTGTAGGGGTCCCCATAGGTGTATGGGGGTCTCTATAGATAATATATGTGCTGTGTGTAATTTTAAATTTCTCCAACCGTGCTGTACAAATGTGTGGATTTGTAATCAGGCTATTTTGTTGTTGTTGTTGTTGTTCAGAGCCATTAATATAATATTTAAAGTTGAGTTCACTGGATAAGTTTTTCATCTTGCCCAACCATTTCTAACTGCCAAATTGAATTCAAGAAACCGATGTGGGTTTTGTTTCCTGTACAATTATGAGATATAATTCTTTTTCCCATTGTAGGTCTTTTACAAAACAAGAAAATAATTTATTTTTTTGTTGGTGGATAAAGAAGTCAAGTATCTGATACTTTTTATTTACAAAGTGTGATGGTTTTGTATAGTAGGTTCCACCCTGAGTATTCCTAAAAGAAAAAAAAAAAAAAAGCTTAAAAACTCTAACTTCATCTGTGTTTGTCTTACGTGGTCTTAATCGTTGTACTTACCTTAAAATAAACCCATGTTGTTTTTTCTGCCCAAAGTTTGGACAGTGTGTTTGTGTTGTTGCA
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ACCCAACAAAACAAAAAAAAGGCTGAAATATAGAAAAGCAACTTGGAGGCTCCCAGGGGGACGTTGCCAGGAGCAGGAGGCAGGGACAGCGCCCTAGGGTCGGTGTTAGCGGCCGGCGCCGGCCTGGGCCACGGGAAACGTCCACGCTTGGTGCCCGCGGTGCGCGGCGCTCATTGCGCGCGCCTTCGAGCCAAGCCCCCGCGGAAAACAGGCTCGGGTTTCTCCTCGCAGGGCCCAGGAACTCGGCTCTGCCTGGCCCGGGTGGGTCGCTGCATTGTCCCGGTCTTCTGGGAGTGCGGGGTCAGCTTGTTAGAGGGAATTTCTACCTGGGAAAAGGGAGACGAGTTTCGAAGCTGAAGTTGGTAGGCTGCGAGTGTCCACGCGGGAGACGAAAGGGGGAAATAGCAGAGTCACTTCACCCTTTTCCCCAAACCCCACAAAACTGCTCGCAGCGACGCGGATGATCTACCGAATTCCCCGCGAATTCGGAGGATTAAGTTGTCAGTCAGCACGTTGCTACCTTCCCCTCTATGCACTCCGCTGCCTGGCTCCTCGGCGGGGAGCGAGGGAAACTCAGTTTGTAGGGTTTACCTCTAAAACCTCGATAGGTTATCCTTGACGACCCCGAGCCTGGAAACTCCCTGTTGATGATTAATTATTTGATTAAATAAGTATAACATCCAGGAGAGGCCCTGCCATTCCAATCCAGCGCGTTTGCTTTGAATCCATTACACCTGGGCCCCCATAATTAGGAAATCTAATTATTCGCTTCATCACTCATTAATAAGAAAAATGTCCCAGGATCATTGCTACTTACAAGGTCTTTGGGAGAGATATTTTACTCTATTAATCCATTCTATTTTATATTTCAAATTGATTTTTTTTAACAGAGGAAAGTGGCTATCTTTTTGTTTTGGGCATGTGGGCCCATTCACCAAAATGTGATCATAAAATAAATTTTAATAAGATATAACTTTTTAAAAAGTTTTCAAGTGAAGACGGAGTCGCCGCGGAGGCCGGGGCGGCGGGGTCTTAGAGCCGACGGATTCCTGCGCTCCTCGCCCCGATTGGCGCCGACTCCTCTCAGCTGCCGGGTGATTGGCTCAAAGTTCCGGGAGGGGGCGTGGCCCGAGGAAAGTAAAAACTCGCTTTCAGCAAGAAGACTTTTGAAACTTTTCCCAATCCCTAAAAGGGACTTGGCCTCTTTTTCTGGGCTCAGCGGGGCAGCCGCTCGGACCCCGGCGCGCTGACCCTCGGGGCTGCCGATTCGCTGGGGGCTTGGAGAGCCTCCTGCGCCCCTCCTCGCGCGGGCCGAGGGTCCACCTGGGTCCCCAGGCCGCGGCGTCTCCGCTGGGTCCGCGGCCGCCCGCCTGCCCGCGCTGCCGCCGCCGGGTCCTGGAGCCAGCGAGGAGCGGGGCCGGCGCTGCGCTTGCCCGGGGCGCGCCCTCCAGGATGCCGATCCGCCCGGTCCGCTGAAAGCGCGCGCCCCTGCTCGGCCCGAGCGCCGCCGCCCGCGCACCCTCGCCCCGGAGGCTGCCAGGAGCCCGGGGCCGCCCCTCCCGCTCCCCTCCTCTCCCCCTCTGGCTCTCTCGCGCTCTCTCGCTCTCAGGGCCCCCCTCGCTCCCCCGGCCGCAGTCCGTGCGCGAGGGCGCCGGCGAGCCGTCTCGGAAGCAGCATGCAGGCGCGCTACTCCGTGTCCGACCCCAACGCCCTGGGAGTGGTGCCCTACCTGAGCGAGCAGAATTACTACCGGGCTGCGGGCAGCTACGGCGGCATGGCCAGCCCCATGGGCGTCTATTCCGGCCACCCGGAGCAGTACAGCGCGGGGATGGGCCGCTCCTACGCGCCCTACCACCACCACCAGCCCGCGGCGCCTAAGGACCTGGTGAAGCCGCCCTACAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCGCCCGAGAAGAAGATCACCTTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGAGAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTTGCTCAACGAGTGCTTCGTCAAGGTGCCCCGCGACGACAAGAAGCCCGGCAAGGGCAGTTACTGGACCCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGCCGGCGGCGCTTCAAAAAGAAGGACGTGTCCAAGGAGAAGGAGGAGCGGGCCCACCTCAAGGAGCCGCCCCCGGCGGCGTCCAAGGGCGCCCCGGCCACCCCCCACCTAGCGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAGGTGGAGACGCTGAGCCCCGAGAGCGCGCTGCAGGGCAGCCCGCGCAGCGCGGCCTCCACGCCCGCCGGCTCCCCCGACGGCTCGCTGCCGGAGCACCACGCCGCGGCGCCCAACGGGCTGCCTGGCTTCAGCGTGGAGAACATCATGACCCTGCGAACGTCGCCGCCGGGCGGAGAGCTGAGCCCGGGGGCCGGACGCGCGGGCCTGGTGGTGCCGCCGCTGGCGCTGCCCTACGCCGCCGCGCCGCCCGCCGCCTACGGCCAGCCGTGCGCTCAGGGCCTGGAGGCCGGGGCCGCCGGGGGCTACCAGTGCAGCATGCGAGCGATGAGCCTGTACACCGGGGCCGAGCGGCCGGCGCACATGTGCGTCCCGCCCGCCCTGGACGAGGCCCTCTCGGACCACCCGAGCGGCCCCACGTCGCCCCTGAGCGCTCTCAACCTCGCCGCCGGCCAGGAGGGCGCGCTCGCCGCCACGGGCCACCACCACCAGCACCACGGCCACCACCACCCGCAGGCGCCGCCGCCCCCGCCGGCTCCCCAGCCCCAGCCGACGCCGCAGCCCGGGGCCGCCGCGGCGCAGGCGGCCTCCTGGTATCTCAACCACAGCGGGGACCTGAACCACCTCCCCGGCCACACGTTCGCGGCCCAGCAGCAAACTTTCCCCAACGTGCGGGAGATGTTCAACTCCCACCGGCTGGGGATTGAGAACTCGACCCTCGGGGAGTCCCAGGTGAGTGGCAATGCCAGCTGCCAGCTGCCCTACAGATCCACGCCGCCTCTCTATCGCCACGCAGCCCCCTACTCCTACGACTGCACGAAATACTGACGTGTCCCGGGACCTCCCCTCCCCGGCCCGCTCCGGCTTCGCTTCCCAGCCCCGACCCAACCAGACAATTAAGGGGCTGCAGAGACGCAAAAAAGAAACAAAACATGTCCACCAACCTTTTCTCAGACCCGGGAGCAGAGAGCGGGCACGCTAGCCCCCAGCCGTCTGTGAAGAGCGCAGGTAACTTTAATTCGCCGCCCCGTTTCTGGGATCCCAGGAAACCCCTCCAAAGGGACGCAGCCCAACAAAATGAGTATTGATCTTAAAATCCCCCTCCCCTACCAGGACGGCTGTGCTGTGCTCGACCTGAGCTTTCAAAAGTTAAGTTATGGACCAAATCCCATAGCGAGCCCCTAGTGACTTTCTGTAGGGGTCCCCATAGGTGTATGGGGGTCTCTATAGATAATATATGTGCTGTGTGTAATTTTAAATTTCTCCAACCGTGCTGTACAAATGTGTGGATTTGTAATCAGGCTATTTTGTTGTTGTTGTTGTTGTTCAGAGCCATTAATATAATATTTAAAGTTGAGTTCACTGGATAAGTTTTTCATCTTGCCCAACCATTTCTAACTGCCAAATTGAATTCAAGAAACCGATGTGGGTTTTGTTTCCTGTACAATTATGAGATATAATTCTTTTTCCCATTGTAGGTCTTTTACAAAACAAGAAAATAATTTATTTTTTTGTTGGTGGATAAAGAAGTCAAGTATCTGATACTTTTTATTTACAAAGTGTGATGGTTTTGTATAGTAGGTTCCACCCTGAGTATTCCTAAAAGAAAAAAAAAAAAAAAGCTTAAAAACTCTAACTTCATCTGTGTTTGTCTTACGTGGTCTTAATCGTTGTACTTACCTTAAAATAAACCCATGTTGTTTTTTCTGCCCAAAGTTTGGACAGTGTGTTTGTGTTGTTGCA
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Task1_train_22985
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The gene FOXC2 (forkhead box C2) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Distichiasis-lymphedema syndrome
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AGATATTTTACTCTATTAATCCATTCTATTTTATATTTCAAATTGATTTTTTTTAACAGAGGAAAGTGGCTATCTTTTTGTTTTGGGCATGTGGGCCCATTCACCAAAATGTGATCATAAAATAAATTTTAATAAGATATAACTTTTTAAAAAGTTTTCAAGTGAAGACGGAGTCGCCGCGGAGGCCGGGGCGGCGGGGTCTTAGAGCCGACGGATTCCTGCGCTCCTCGCCCCGATTGGCGCCGACTCCTCTCAGCTGCCGGGTGATTGGCTCAAAGTTCCGGGAGGGGGCGTGGCCCGAGGAAAGTAAAAACTCGCTTTCAGCAAGAAGACTTTTGAAACTTTTCCCAATCCCTAAAAGGGACTTGGCCTCTTTTTCTGGGCTCAGCGGGGCAGCCGCTCGGACCCCGGCGCGCTGACCCTCGGGGCTGCCGATTCGCTGGGGGCTTGGAGAGCCTCCTGCGCCCCTCCTCGCGCGGGCCGAGGGTCCACCTGGGTCCCCAGGCCGCGGCGTCTCCGCTGGGTCCGCGGCCGCCCGCCTGCCCGCGCTGCCGCCGCCGGGTCCTGGAGCCAGCGAGGAGCGGGGCCGGCGCTGCGCTTGCCCGGGGCGCGCCCTCCAGGATGCCGATCCGCCCGGTCCGCTGAAAGCGCGCGCCCCTGCTCGGCCCGAGCGCCGCCGCCCGCGCACCCTCGCCCCGGAGGCTGCCAGGAGCCCGGGGCCGCCCCTCCCGCTCCCCTCCTCTCCCCCTCTGGCTCTCTCGCGCTCTCTCGCTCTCAGGGCCCCCCTCGCTCCCCCGGCCGCAGTCCGTGCGCGAGGGCGCCGGCGAGCCGTCTCGGAAGCAGCATGCAGGCGCGCTACTCCGTGTCCGACCCCAACGCCCTGGGAGTGGTGCCCTACCTGAGCGAGCAGAATTACTACCGGGCTGCGGGCAGCTACGGCGGCATGGCCAGCCCCATGGGCGTCTATTCCGGCCACCCGGAGCAGTACAGCGCGGGGATGGGCCGCTCCTACGCGCCCTACCACCACCACCAGCCCGCGGCGCCTAAGGACCTGGTGAAGCCGCCCTACAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCGCCCGAGAAGAAGATCACCTTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGAGAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCCCGCGACGACAAGAAGCCCGGCAAGGGCAGTTACTGGACCCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGCCGGCGGCGCTTCAAAAAGAAGGACGTGTCCAAGGAGAAGGAGGAGCGGGCCCACCTCAAGGAGCCGCCCCCGGCGGCGTCCAAGGGCGCCCCGGCCACCCCCCACCTAGCGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAGGTGGAGACGCTGAGCCCCGAGAGCGCGCTGCAGGGCAGCCCGCGCAGCGCGGCCTCCACGCCCGCCGGCTCCCCCGACGGCTCGCTGCCGGAGCACCACGCCGCGGCGCCCAACGGGCTGCCTGGCTTCAGCGTGGAGAACATCATGACCCTGCGAACGTCGCCGCCGGGCGGAGAGCTGAGCCCGGGGGCCGGACGCGCGGGCCTGGTGGTGCCGCCGCTGGCGCTGCCCTACGCCGCCGCGCCGCCCGCCGCCTACGGCCAGCCGTGCGCTCAGGGCCTGGAGGCCGGGGCCGCCGGGGGCTACCAGTGCAGCATGCGAGCGATGAGCCTGTACACCGGGGCCGAGCGGCCGGCGCACATGTGCGTCCCGCCCGCCCTGGACGAGGCCCTCTCGGACCACCCGAGCGGCCCCACGTCGCCCCTGAGCGCTCTCAACCTCGCCGCCGGCCAGGAGGGCGCGCTCGCCGCCACGGGCCACCACCACCAGCACCACGGCCACCACCACCCGCAGGCGCCGCCGCCCCCGCCGGCTCCCCAGCCCCAGCCGACGCCGCAGCCCGGGGCCGCCGCGGCGCAGGCGGCCTCCTGGTATCTCAACCACAGCGGGGACCTGAACCACCTCCCCGGCCACACGTTCGCGGCCCAGCAGCAAACTTTCCCCAACGTGCGGGAGATGTTCAACTCCCACCGGCTGGGGATTGAGAACTCGACCCTCGGGGAGTCCCAGGTGAGTGGCAATGCCAGCTGCCAGCTGCCCTACAGATCCACGCCGCCTCTCTATCGCCACGCAGCCCCCTACTCCTACGACTGCACGAAATACTGACGTGTCCCGGGACCTCCCCTCCCCGGCCCGCTCCGGCTTCGCTTCCCAGCCCCGACCCAACCAGACAATTAAGGGGCTGCAGAGACGCAAAAAAGAAACAAAACATGTCCACCAACCTTTTCTCAGACCCGGGAGCAGAGAGCGGGCACGCTAGCCCCCAGCCGTCTGTGAAGAGCGCAGGTAACTTTAATTCGCCGCCCCGTTTCTGGGATCCCAGGAAACCCCTCCAAAGGGACGCAGCCCAACAAAATGAGTATTGATCTTAAAATCCCCCTCCCCTACCAGGACGGCTGTGCTGTGCTCGACCTGAGCTTTCAAAAGTTAAGTTATGGACCAAATCCCATAGCGAGCCCCTAGTGACTTTCTGTAGGGGTCCCCATAGGTGTATGGGGGTCTCTATAGATAATATATGTGCTGTGTGTAATTTTAAATTTCTCCAACCGTGCTGTACAAATGTGTGGATTTGTAATCAGGCTATTTTGTTGTTGTTGTTGTTGTTCAGAGCCATTAATATAATATTTAAAGTTGAGTTCACTGGATAAGTTTTTCATCTTGCCCAACCATTTCTAACTGCCAAATTGAATTCAAGAAACCGATGTGGGTTTTGTTTCCTGTACAATTATGAGATATAATTCTTTTTCCCATTGTAGGTCTTTTACAAAACAAGAAAATAATTTATTTTTTTGTTGGTGGATAAAGAAGTCAAGTATCTGATACTTTTTATTTACAAAGTGTGATGGTTTTGTATAGTAGGTTCCACCCTGAGTATTCCTAAAAGAAAAAAAAAAAAAAAGCTTAAAAACTCTAACTTCATCTGTGTTTGTCTTACGTGGTCTTAATCGTTGTACTTACCTTAAAATAAACCCATGTTGTTTTTTCTGCCCAAAGTTTGGACAGTGTGTTTGTGTTGTTGCATTTTTTACAAACGAGGTGTGTTTGCAAACCCACCTGCTTTGATTATTTTTGTTACACAGGTGGGTATATGTGTAGACACATAAAAACGACCAGAGAATAGGAGCACACACCTGCTGTCTTGTTTAGTGACAGAAAAAGGCTTTTGATTAATTTTAAAATCCCACTCTAGGATTTTTTCTTTTCGAGAAACCGCCCAGTTGGAGGGGGCTGCCTGAAGGACCGGACCATGAGTTTGCCGTGATGCATTTTCTTAAATGCACAAAAACATGCTAATTGTCAAAACAAACAGTGCCACTCCATCTCAGTGTCCAGCCGTCCCCAGTTTAGGAGGTGAAGGAAGGGAAGAATAAACATTTCCCGTTTGCTAACTGCAACCCAGGGTGAGTCCTGCTTTCCCCCGATTTTATAAAATTTGAGCCTCTTTGCCTGCTTTAATAGTTTTCCAGAGAATTTGAACTGGGCCAATGAAGGTCTGAAGGGGACGGATTTTCTAGCGTTTGATATCCATCCCCCTTAGCGGCCAGATCAGAGGGGAATTTCAGACTTTATTACTTCTCAATGTCATGTCTAAATCTACACCCTCATCGCAGTGAAAAATTTTAAAACCTCATTACCCTTCAAAAATAATTTATGATATTTTTAGAGTTCTAAATTCAAGTTTTTCAATATGTTAAATAATAGAGATTATTTTTTGTTTTCAATGTTAATATCTCGTCTTTTACATTTTTAATAGTAACATAGTTTTTGTGAAATGTAGCTGACGAAATGGCTTTATTATCTATTTCAATGGCTGAAGTCCACCACTCCCCTGCTGGCCTCTATGTGTGAATT
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AGATATTTTACTCTATTAATCCATTCTATTTTATATTTCAAATTGATTTTTTTTAACAGAGGAAAGTGGCTATCTTTTTGTTTTGGGCATGTGGGCCCATTCACCAAAATGTGATCATAAAATAAATTTTAATAAGATATAACTTTTTAAAAAGTTTTCAAGTGAAGACGGAGTCGCCGCGGAGGCCGGGGCGGCGGGGTCTTAGAGCCGACGGATTCCTGCGCTCCTCGCCCCGATTGGCGCCGACTCCTCTCAGCTGCCGGGTGATTGGCTCAAAGTTCCGGGAGGGGGCGTGGCCCGAGGAAAGTAAAAACTCGCTTTCAGCAAGAAGACTTTTGAAACTTTTCCCAATCCCTAAAAGGGACTTGGCCTCTTTTTCTGGGCTCAGCGGGGCAGCCGCTCGGACCCCGGCGCGCTGACCCTCGGGGCTGCCGATTCGCTGGGGGCTTGGAGAGCCTCCTGCGCCCCTCCTCGCGCGGGCCGAGGGTCCACCTGGGTCCCCAGGCCGCGGCGTCTCCGCTGGGTCCGCGGCCGCCCGCCTGCCCGCGCTGCCGCCGCCGGGTCCTGGAGCCAGCGAGGAGCGGGGCCGGCGCTGCGCTTGCCCGGGGCGCGCCCTCCAGGATGCCGATCCGCCCGGTCCGCTGAAAGCGCGCGCCCCTGCTCGGCCCGAGCGCCGCCGCCCGCGCACCCTCGCCCCGGAGGCTGCCAGGAGCCCGGGGCCGCCCCTCCCGCTCCCCTCCTCTCCCCCTCTGGCTCTCTCGCGCTCTCTCGCTCTCAGGGCCCCCCTCGCTCCCCCGGCCGCAGTCCGTGCGCGAGGGCGCCGGCGAGCCGTCTCGGAAGCAGCATGCAGGCGCGCTACTCCGTGTCCGACCCCAACGCCCTGGGAGTGGTGCCCTACCTGAGCGAGCAGAATTACTACCGGGCTGCGGGCAGCTACGGCGGCATGGCCAGCCCCATGGGCGTCTATTCCGGCCACCCGGAGCAGTACAGCGCGGGGATGGGCCGCTCCTACGCGCCCTACCACCACCACCAGCCCGCGGCGCCTAAGGACCTGGTGAAGCCGCCCTACAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCGCCCGAGAAGAAGATCACCTTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGAGAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCCCGCGACGACAAGAAGCCCGGCAAGGGCAGTTACTGGACCCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGCCGGCGGCGCTTCAAAAAGAAGGACGTGTCCAAGGAGAAGGAGGAGCGGGCCCACCTCAAGGAGCCGCCCCCGGCGGCGTCCAAGGGCGCCCCGGCCACCCCCCACCTAGCGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAGGTGGAGACGCTGAGCCCCGAGAGCGCGCTGCAGGGCAGCCCGCGCAGCGCGGCCTCCACGCCCGCCGGCTCCCCCGACGGCTCGCTGCCGGAGCACCACGCCGCGGCGCCCAACGGGCTGCCTGGCTTCAGCGTGGAGAACATCATGACCCTGCGAACGTCGCCGCCGGGCGGAGAGCTGAGCCCGGGGGCCGGACGCGCGGGCCTGGTGGTGCCGCCGCTGGCGCTGCCCTACGCCGCCGCGCCGCCCGCCGCCTACGGCCAGCCGTGCGCTCAGGGCCTGGAGGCCGGGGCCGCCGGGGGCTACCAGTGCAGCATGCGAGCGATGAGCCTGTACACCGGGGCCGAGCGGCCGGCGCACATGTGCGTCCCGCCCGCCCTGGACGAGGCCCTCTCGGACCACCCGAGCGGCCCCACGTCGCCCCTGAGCGCTCTCAACCTCGCCGCCGGCCAGGAGGGCGCGCTCGCCGCCACGGGCCACCACCACCAGCACCACGGCCACCACCACCCGCAGGCGCCGCCGCTCCCGCCGGCTCCCCAGCCCCAGCCGACGCCGCAGCCCGGGGCCGCCGCGGCGCAGGCGGCCTCCTGGTATCTCAACCACAGCGGGGACCTGAACCACCTCCCCGGCCACACGTTCGCGGCCCAGCAGCAAACTTTCCCCAACGTGCGGGAGATGTTCAACTCCCACCGGCTGGGGATTGAGAACTCGACCCTCGGGGAGTCCCAGGTGAGTGGCAATGCCAGCTGCCAGCTGCCCTACAGATCCACGCCGCCTCTCTATCGCCACGCAGCCCCCTACTCCTACGACTGCACGAAATACTGACGTGTCCCGGGACCTCCCCTCCCCGGCCCGCTCCGGCTTCGCTTCCCAGCCCCGACCCAACCAGACAATTAAGGGGCTGCAGAGACGCAAAAAAGAAACAAAACATGTCCACCAACCTTTTCTCAGACCCGGGAGCAGAGAGCGGGCACGCTAGCCCCCAGCCGTCTGTGAAGAGCGCAGGTAACTTTAATTCGCCGCCCCGTTTCTGGGATCCCAGGAAACCCCTCCAAAGGGACGCAGCCCAACAAAATGAGTATTGATCTTAAAATCCCCCTCCCCTACCAGGACGGCTGTGCTGTGCTCGACCTGAGCTTTCAAAAGTTAAGTTATGGACCAAATCCCATAGCGAGCCCCTAGTGACTTTCTGTAGGGGTCCCCATAGGTGTATGGGGGTCTCTATAGATAATATATGTGCTGTGTGTAATTTTAAATTTCTCCAACCGTGCTGTACAAATGTGTGGATTTGTAATCAGGCTATTTTGTTGTTGTTGTTGTTGTTCAGAGCCATTAATATAATATTTAAAGTTGAGTTCACTGGATAAGTTTTTCATCTTGCCCAACCATTTCTAACTGCCAAATTGAATTCAAGAAACCGATGTGGGTTTTGTTTCCTGTACAATTATGAGATATAATTCTTTTTCCCATTGTAGGTCTTTTACAAAACAAGAAAATAATTTATTTTTTTGTTGGTGGATAAAGAAGTCAAGTATCTGATACTTTTTATTTACAAAGTGTGATGGTTTTGTATAGTAGGTTCCACCCTGAGTATTCCTAAAAGAAAAAAAAAAAAAAAGCTTAAAAACTCTAACTTCATCTGTGTTTGTCTTACGTGGTCTTAATCGTTGTACTTACCTTAAAATAAACCCATGTTGTTTTTTCTGCCCAAAGTTTGGACAGTGTGTTTGTGTTGTTGCATTTTTTACAAACGAGGTGTGTTTGCAAACCCACCTGCTTTGATTATTTTTGTTACACAGGTGGGTATATGTGTAGACACATAAAAACGACCAGAGAATAGGAGCACACACCTGCTGTCTTGTTTAGTGACAGAAAAAGGCTTTTGATTAATTTTAAAATCCCACTCTAGGATTTTTTCTTTTCGAGAAACCGCCCAGTTGGAGGGGGCTGCCTGAAGGACCGGACCATGAGTTTGCCGTGATGCATTTTCTTAAATGCACAAAAACATGCTAATTGTCAAAACAAACAGTGCCACTCCATCTCAGTGTCCAGCCGTCCCCAGTTTAGGAGGTGAAGGAAGGGAAGAATAAACATTTCCCGTTTGCTAACTGCAACCCAGGGTGAGTCCTGCTTTCCCCCGATTTTATAAAATTTGAGCCTCTTTGCCTGCTTTAATAGTTTTCCAGAGAATTTGAACTGGGCCAATGAAGGTCTGAAGGGGACGGATTTTCTAGCGTTTGATATCCATCCCCCTTAGCGGCCAGATCAGAGGGGAATTTCAGACTTTATTACTTCTCAATGTCATGTCTAAATCTACACCCTCATCGCAGTGAAAAATTTTAAAACCTCATTACCCTTCAAAAATAATTTATGATATTTTTAGAGTTCTAAATTCAAGTTTTTCAATATGTTAAATAATAGAGATTATTTTTTGTTTTCAATGTTAATATCTCGTCTTTTACATTTTTAATAGTAACATAGTTTTTGTGAAATGTAGCTGACGAAATGGCTTTATTATCTATTTCAATGGCTGAAGTCCACCACTCCCCTGCTGGCCTCTATGTGTGAATT
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Task1_train_22986
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A variant was discovered in gene ZNF469 (zinc finger protein 469), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Keratoconus 1
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GGCTAGGAGCCAGCCCTCCCAGGAGGACCTCGCCTACACTGGCTGAGGCCTTGAGCGGGTTCCCCACCTCTCTGTGCCTGGATTCCTCACCCATAAATTCAGGGCGACAATCACAGATCACCTCTGAGCCACCGTGAGCACAAGGGAGGCAGTTCAGGAAAGTGCTCAGACGCCCAGCATCATTTATTCACTCAACAAACCTCACCTGTGAATCCTGGCCCCAAGGACTCCCAGGCCTTTGCCCCCTGGCAGTGGATCCCAGAAGAGGGAAAGGGGCCCTCCTCCCGGGGTCATGGGACAGGAGGTACCTCAGTGGTGGGGGCAGAGGAGGAAGGGGCACCCGGGCCCCCCAGCTGGCATGACTCTTTTTGGTGGTGTGATGTGGAGTTTGCAGGCTGGGACCTCGCCCACCCTGGAGACCTTGGCCCAAATTGGGCAGGACCCTCCTCCCCGGTGCAGGCAGTCCCTGGGCACAGCAGGAAGAGCCAGCCGGAAGTACAGGTACCAACCTCGTGCTGGGGACAGAGGGCCTGCCAGCCTCTGCGTTAGGAGTCCCCAGGCGGCTGTAGTGCGGGAACTCCGGGAGGGGCATGAGACACCACCAGCTCAGGCCGGTGGGAGGGTCCTGTGACCTCAGGAGGCAGCCCCCGCCTCCACAGAGGCAGCAGGGTCTCTGAGAGTGCTCCAGGCCTGAGGCCTGTCCCTTCAGCTCCCAGCTGCTCTGCTGCTGGCTGTGTGACCCTGGCCAAGTCATCCGCCTCTCTGGGCCTGCCATGAGGACCCAGGGGTCAGTGGCAAGGACAATGCCTGCAAGGGCTGAGCCCTGCCTCACTCTGCTGTGTAAAGGACGCCCGGTCCCTGCTGGGCAAGTCAGAAGGGGCCCCCACACGGAGCGGCCTGCGCACCTCGTGGCCACAGCCAATGGCTCGGGTCTGAGTCCTGTCCGCACAGAGGACAGTCCCGTATGTCATGACATGAGAACAGACATGATGAGTGTGAAGCCAGCCCTGGGTGAGCAAGGGGCCAGGCTCCTCTGGGCAAGCGGCTCCTGCTACATCTGGCATGTGCCAGAATGGGAGCCGGCACCGTCTGGAGGCTGGGGGCTTCCTGGAGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGGGAGTCCCCGCTTGGAACCAGCCGCCCAGGCCCTGAGAGGTTCAGGTTGAGCCTCTGCTGCCTCAGTCCCCTATGTCCTGCAACGCAGCCTCCTGCCTCAAGGCCCTCCCCATGGCAGGTGTAAGCATCCACCTGGGCCCTCCTGGACGCTGCCAGGACCCTGCCCTGGGGCAGTTCCTGCAGGCTGAGAGCTTGTGCCCCACACAGGTGCCTGTCCTCTCCACAGCCTGGCCGAGGACTGCTCTGAGCCTGTAAGCGGCCTCCTCACACCCCAGAAAGCTCCCCCTCCCTCCCCCTCCACTCAATCTCTGCGCTCCACCGCCCCTCTTCTCCCTAAGACAGGGAAGGGTCCCTGTTCCATCTGGCGGGATGCCCTCTCCCTTCCTGCTTCTAGGTAGGGGCTGAGCCGAGCATCCCTTCTAAGCGCGGAGCTTCTGTGATGGCTGCACGCAGCCTCTTCTGCTTCTGGCCCGGCCACACCCGCATGGAGAGCCTAGAAGCTCCCTGTCTAGGCGAGGGCCACCCAGCCCCTCTGCCCCACTCACCCCTGACCTTTCCTTCCAGGCTCCACTCAGGACCATGAGCGCAGGCTTCCCTGGGGCCCATCGAGGGCTGAGGATGGCCGTCCAGCCCACTCCCCAGGGCCCCCCTCGGACAGCTGCGTCGTCCTAGCGCCAGGACGGAGGGGCCATGCCTGGGGAGCGCCCCCGAGGAGCGCCGCCCCCCACCATGACTGGAGACCTGCAGCCCCGCCAAGTTGCCAGCAGCCCGGGGCACCCCTCCCAGCCGCCACTGGAGGACAACACCCCAGCTACCAGGACCACCAAGGGTGCCAGGGAGGCTGGCGGCCAGGCCCAGGCCATGGAGCTCCCCGAGGCCCAGCCAAGGCAGGCCAGGGACGGGGAGCTCAAGCCCCCATCCCTGAGAGGCCAGGCCCCGAGCAGCACCCCTGGGAAGAGGGGCAGCCCCCAGACCCCACCGGGGAGAAGCCCCTTGCAGGCTCCCTCAAGGCTGGCGGGCAGGGCAGAGGGCAGCCCCCCACAGCGCTACATTCTGGGCATCGCCAGCTCGAGGACCAAGCCCACCCTGGACGAGACACCAGAGAACCCACAGCTGGAGGCTGCCCAGCTCCCTGAGGTGGACACCCCCCAGGGCCCTGGGACTGGAGCTCCACTCAGGCCGGGCCTCCCAAGGACTGAGGCCCAACCCGCCGCCGAAGAGCTTGGCTTCCACAGGTGCTTCCAGGAGCCACCCTCCAGCTTTACCTCCACCAACTATACCTCACCAAGCGCCACCCCCAGGCCCCCAGCCCCGGGGCCCCCCCAGAGCAGGGGCACCAGCCCCCTCCAGCCCGGTTCCTATCCCGAATACCAGGCCAGTGGGGCCGACTCCTGGCCTCCCGCTGCTGAGAATAGCTTCCCAGGTGCTAATTTCGGGGTTCCCCCCGCCGAGCCGGAACCTATTCCCAAAGGCAGCAGGCCCGGCGGCAGCCCCAGGGGAGTTTCCTTCCAGTTCCCCTTCCCGGCACTGCATGGGGCCAGCACAAAACCCTTCCCTGCGGATGTGGCTGGGCACGCATTCACCAATGGGCCACTGGTGTTTGCCTTCCATCAGCCCCAGGGAGCGTGGCCGGAGGAGGCCGTGGGCACGGGCCCTGCCTACCCGCTGCCCACCCAGCCTGCGCCCTCACCCCTGCCCTGCTACCAGGGCCAGCCAGGTGGCCTGAACCGCCACAGCGACCTCAGTGGTGCCCTCTCTTCCCCTGGAGCTGCTCACTCGGCCCCGAGACCCTTCTCTGACAGTTTACACAAGAGCCTGACCAAAATCCTTCCCGAAAGACCACCTTCAGCCCAGGATGGGCTGGGGAGCACGAGAGGGCCCCCTAGCTCCCTACCCCAGAGGCACTTTCCAGGGCAGGCGTACAGAGCCAGTGGGGTGGACACCAGCCCGGGGCCTCCGGACACCGAGCTGGCCGCCCCAGGGCCCCCACCCGCCAGGCTGCCCCAGCTGTGGGACCCCACAGCAGCCCCTTACCCCACACCTCCTGGGGGCCCCCTGGCTGCCACCAGGAGTATGTTCTTTAACGGCCAGCCCAGCCCAGGCCAGCGGCTCTGCCTCCCCCAGAGTGCCCCCCTGCCTTGGCCCCAAGTGCTCCCGACCGCCCGGCCAAGTCCCCACGGAATGGAGATGCTGAGCCGGCTGCCTTTCCCCGCGGGGGGCCCCGAGTGGCAGGGGGGCAGCCAAGGAGCCCTGGGCACTGCTGGCAAGACACCGGGACCCAGAGAGAAGCTGCCAGCCGTGAGAAGCAGCCAGGGCGGCTCCCCAGCACTGTTCACCTACAACGGAATGACAGACCCTGGGGCTCAGCCCCTGTTCTTCGGGGTGGCCCAGCCCCAGGTTTCACCCCACGGGACACCCAGCCTGCCCCCACCGAGGGTAGTGGGAGCCTCCCCCAGCGAGTCCCCACTGCCGTCACCGGCCACCAACACGGCCGGCAGCACCTGCTCTTCCCTGTCGCCGATGTCCAGCAGCCCAGCCAACCCCAGCTCAGAGGAAAGCCAGCTCCCCGGCCCCCTCGGGCCCTCGGCCTTCTTCCACCCACCCACTCACCCCCAGGAGACGGGCAGCCCCTTCCCGTCCCCGGAGCCCCCCCACTCCCTCCCCACCCACTACCAGCCAGAGCCAGCCAAGGCCTTCCCTTTTCCCGCAGATGGGCTGGGAGCCGAGGGTGCCTTCCAGTGCCTGGAGGAGACCCCATTCCCCCACGAGGGCCCCGAGGTGGGTCGGGGAGGGCTGCAGGGCTTCCCCCGTGCG
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GGCTAGGAGCCAGCCCTCCCAGGAGGACCTCGCCTACACTGGCTGAGGCCTTGAGCGGGTTCCCCACCTCTCTGTGCCTGGATTCCTCACCCATAAATTCAGGGCGACAATCACAGATCACCTCTGAGCCACCGTGAGCACAAGGGAGGCAGTTCAGGAAAGTGCTCAGACGCCCAGCATCATTTATTCACTCAACAAACCTCACCTGTGAATCCTGGCCCCAAGGACTCCCAGGCCTTTGCCCCCTGGCAGTGGATCCCAGAAGAGGGAAAGGGGCCCTCCTCCCGGGGTCATGGGACAGGAGGTACCTCAGTGGTGGGGGCAGAGGAGGAAGGGGCACCCGGGCCCCCCAGCTGGCATGACTCTTTTTGGTGGTGTGATGTGGAGTTTGCAGGCTGGGACCTCGCCCACCCTGGAGACCTTGGCCCAAATTGGGCAGGACCCTCCTCCCCGGTGCAGGCAGTCCCTGGGCACAGCAGGAAGAGCCAGCCGGAAGTACAGGTACCAACCTCGTGCTGGGGACAGAGGGCCTGCCAGCCTCTGCGTTAGGAGTCCCCAGGCGGCTGTAGTGCGGGAACTCCGGGAGGGGCATGAGACACCACCAGCTCAGGCCGGTGGGAGGGTCCTGTGACCTCAGGAGGCAGCCCCCGCCTCCACAGAGGCAGCAGGGTCTCTGAGAGTGCTCCAGGCCTGAGGCCTGTCCCTTCAGCTCCCAGCTGCTCTGCTGCTGGCTGTGTGACCCTGGCCAAGTCATCCGCCTCTCTGGGCCTGCCATGAGGACCCAGGGGTCAGTGGCAAGGACAATGCCTGCAAGGGCTGAGCCCTGCCTCACTCTGCTGTGTAAAGGACGCCCGGTCCCTGCTGGGCAAGTCAGAAGGGGCCCCCACACGGAGCGGCCTGCGCACCTCGTGGCCACAGCCAATGGCTCGGGTCTGAGTCCTGTCCGCACAGAGGACAGTCCCGTATGTCATGACATGAGAACAGACATGATGAGTGTGAAGCCAGCCCTGGGTGAGCAAGGGGCCAGGCTCCTCTGGGCAAGCGGCTCCTGCTACATCTGGCATGTGCCAGAATGGGAGCCGGCACCGTCTGGAGGCTGGGGGCTTCCTGGAGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGGGAGTCCCCGCTTGGAACCAGCCGCCCAGGCCCTGAGAGGTTCAGGTTGAGCCTCTGCTGCCTCAGTCCCCTATGTCCTGCAACGCAGCCTCCTGCCTCAAGGCCCTCCCCATGGCAGGTGTAAGCATCCACCTGGGCCCTCCTGGACGCTGCCAGGACCCTGCCCTGGGGCAGTTCCTGCAGGCTGAGAGCTTGTGCCCCACACAGGTGCCTGTCCTCTCCACAGCCTGGCCGAGGACTGCTCTGAGCCTGTAAGCGGCCTCCTCACACCCCAGAAAGCTCCCCCTCCCTCCCCCTCCACTCAATCTCTGCGCTCCACCGCCCCTCTTCTCCCTAAGACAGGGAAGGGTCCCTGTTCCATCTGGCGGGATGCCCTCTCCCTTCCTGCTTCTAGGTAGGGGCTGAGCCGAGCATCCCTTCTAAGCGCGGAGCTTCTGTGATGGCTGCACGCAGCCTCTTCTGCTTCTGGCCCGGCCACACCCGCATGGAGAGCCTAGAAGCTCCCTGTCTAGGCGAGGGCCACCCAGCCCCTCTGCCCCACTCACCCCTGACCTTTCCTTCCAGGCTCCACTCAGGACCATGAGCGCAGGCTTCCCTGGGGCCCATCGAGGGCTGAGGATGGCCGTCCAGCCCACTCCCCAGGGCCCCCCTCGGACAGCTGCGTCGTCCTAGCGCCAGGACGGAGGGGCCATGCCTGGGGAGCGCCCCCGAGGAGCGCCGCCCCCCACCATGACTGGAGACCTGCAGCCCCGCCAAGTTGCCAGCACCCCGGGGCACCCCTCCCAGCCGCCACTGGAGGACAACACCCCAGCTACCAGGACCACCAAGGGTGCCAGGGAGGCTGGCGGCCAGGCCCAGGCCATGGAGCTCCCCGAGGCCCAGCCAAGGCAGGCCAGGGACGGGGAGCTCAAGCCCCCATCCCTGAGAGGCCAGGCCCCGAGCAGCACCCCTGGGAAGAGGGGCAGCCCCCAGACCCCACCGGGGAGAAGCCCCTTGCAGGCTCCCTCAAGGCTGGCGGGCAGGGCAGAGGGCAGCCCCCCACAGCGCTACATTCTGGGCATCGCCAGCTCGAGGACCAAGCCCACCCTGGACGAGACACCAGAGAACCCACAGCTGGAGGCTGCCCAGCTCCCTGAGGTGGACACCCCCCAGGGCCCTGGGACTGGAGCTCCACTCAGGCCGGGCCTCCCAAGGACTGAGGCCCAACCCGCCGCCGAAGAGCTTGGCTTCCACAGGTGCTTCCAGGAGCCACCCTCCAGCTTTACCTCCACCAACTATACCTCACCAAGCGCCACCCCCAGGCCCCCAGCCCCGGGGCCCCCCCAGAGCAGGGGCACCAGCCCCCTCCAGCCCGGTTCCTATCCCGAATACCAGGCCAGTGGGGCCGACTCCTGGCCTCCCGCTGCTGAGAATAGCTTCCCAGGTGCTAATTTCGGGGTTCCCCCCGCCGAGCCGGAACCTATTCCCAAAGGCAGCAGGCCCGGCGGCAGCCCCAGGGGAGTTTCCTTCCAGTTCCCCTTCCCGGCACTGCATGGGGCCAGCACAAAACCCTTCCCTGCGGATGTGGCTGGGCACGCATTCACCAATGGGCCACTGGTGTTTGCCTTCCATCAGCCCCAGGGAGCGTGGCCGGAGGAGGCCGTGGGCACGGGCCCTGCCTACCCGCTGCCCACCCAGCCTGCGCCCTCACCCCTGCCCTGCTACCAGGGCCAGCCAGGTGGCCTGAACCGCCACAGCGACCTCAGTGGTGCCCTCTCTTCCCCTGGAGCTGCTCACTCGGCCCCGAGACCCTTCTCTGACAGTTTACACAAGAGCCTGACCAAAATCCTTCCCGAAAGACCACCTTCAGCCCAGGATGGGCTGGGGAGCACGAGAGGGCCCCCTAGCTCCCTACCCCAGAGGCACTTTCCAGGGCAGGCGTACAGAGCCAGTGGGGTGGACACCAGCCCGGGGCCTCCGGACACCGAGCTGGCCGCCCCAGGGCCCCCACCCGCCAGGCTGCCCCAGCTGTGGGACCCCACAGCAGCCCCTTACCCCACACCTCCTGGGGGCCCCCTGGCTGCCACCAGGAGTATGTTCTTTAACGGCCAGCCCAGCCCAGGCCAGCGGCTCTGCCTCCCCCAGAGTGCCCCCCTGCCTTGGCCCCAAGTGCTCCCGACCGCCCGGCCAAGTCCCCACGGAATGGAGATGCTGAGCCGGCTGCCTTTCCCCGCGGGGGGCCCCGAGTGGCAGGGGGGCAGCCAAGGAGCCCTGGGCACTGCTGGCAAGACACCGGGACCCAGAGAGAAGCTGCCAGCCGTGAGAAGCAGCCAGGGCGGCTCCCCAGCACTGTTCACCTACAACGGAATGACAGACCCTGGGGCTCAGCCCCTGTTCTTCGGGGTGGCCCAGCCCCAGGTTTCACCCCACGGGACACCCAGCCTGCCCCCACCGAGGGTAGTGGGAGCCTCCCCCAGCGAGTCCCCACTGCCGTCACCGGCCACCAACACGGCCGGCAGCACCTGCTCTTCCCTGTCGCCGATGTCCAGCAGCCCAGCCAACCCCAGCTCAGAGGAAAGCCAGCTCCCCGGCCCCCTCGGGCCCTCGGCCTTCTTCCACCCACCCACTCACCCCCAGGAGACGGGCAGCCCCTTCCCGTCCCCGGAGCCCCCCCACTCCCTCCCCACCCACTACCAGCCAGAGCCAGCCAAGGCCTTCCCTTTTCCCGCAGATGGGCTGGGAGCCGAGGGTGCCTTCCAGTGCCTGGAGGAGACCCCATTCCCCCACGAGGGCCCCGAGGTGGGTCGGGGAGGGCTGCAGGGCTTCCCCCGTGCG
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Task1_train_22987
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This is a variant in ZNF469 (zinc finger protein 469), located on Chromosome 16. Is this mutation a likely cause of disease or not?
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Pathogenic; Keratoconus 1
|
AGAAGAGGGAAAGGGGCCCTCCTCCCGGGGTCATGGGACAGGAGGTACCTCAGTGGTGGGGGCAGAGGAGGAAGGGGCACCCGGGCCCCCCAGCTGGCATGACTCTTTTTGGTGGTGTGATGTGGAGTTTGCAGGCTGGGACCTCGCCCACCCTGGAGACCTTGGCCCAAATTGGGCAGGACCCTCCTCCCCGGTGCAGGCAGTCCCTGGGCACAGCAGGAAGAGCCAGCCGGAAGTACAGGTACCAACCTCGTGCTGGGGACAGAGGGCCTGCCAGCCTCTGCGTTAGGAGTCCCCAGGCGGCTGTAGTGCGGGAACTCCGGGAGGGGCATGAGACACCACCAGCTCAGGCCGGTGGGAGGGTCCTGTGACCTCAGGAGGCAGCCCCCGCCTCCACAGAGGCAGCAGGGTCTCTGAGAGTGCTCCAGGCCTGAGGCCTGTCCCTTCAGCTCCCAGCTGCTCTGCTGCTGGCTGTGTGACCCTGGCCAAGTCATCCGCCTCTCTGGGCCTGCCATGAGGACCCAGGGGTCAGTGGCAAGGACAATGCCTGCAAGGGCTGAGCCCTGCCTCACTCTGCTGTGTAAAGGACGCCCGGTCCCTGCTGGGCAAGTCAGAAGGGGCCCCCACACGGAGCGGCCTGCGCACCTCGTGGCCACAGCCAATGGCTCGGGTCTGAGTCCTGTCCGCACAGAGGACAGTCCCGTATGTCATGACATGAGAACAGACATGATGAGTGTGAAGCCAGCCCTGGGTGAGCAAGGGGCCAGGCTCCTCTGGGCAAGCGGCTCCTGCTACATCTGGCATGTGCCAGAATGGGAGCCGGCACCGTCTGGAGGCTGGGGGCTTCCTGGAGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGGGAGTCCCCGCTTGGAACCAGCCGCCCAGGCCCTGAGAGGTTCAGGTTGAGCCTCTGCTGCCTCAGTCCCCTATGTCCTGCAACGCAGCCTCCTGCCTCAAGGCCCTCCCCATGGCAGGTGTAAGCATCCACCTGGGCCCTCCTGGACGCTGCCAGGACCCTGCCCTGGGGCAGTTCCTGCAGGCTGAGAGCTTGTGCCCCACACAGGTGCCTGTCCTCTCCACAGCCTGGCCGAGGACTGCTCTGAGCCTGTAAGCGGCCTCCTCACACCCCAGAAAGCTCCCCCTCCCTCCCCCTCCACTCAATCTCTGCGCTCCACCGCCCCTCTTCTCCCTAAGACAGGGAAGGGTCCCTGTTCCATCTGGCGGGATGCCCTCTCCCTTCCTGCTTCTAGGTAGGGGCTGAGCCGAGCATCCCTTCTAAGCGCGGAGCTTCTGTGATGGCTGCACGCAGCCTCTTCTGCTTCTGGCCCGGCCACACCCGCATGGAGAGCCTAGAAGCTCCCTGTCTAGGCGAGGGCCACCCAGCCCCTCTGCCCCACTCACCCCTGACCTTTCCTTCCAGGCTCCACTCAGGACCATGAGCGCAGGCTTCCCTGGGGCCCATCGAGGGCTGAGGATGGCCGTCCAGCCCACTCCCCAGGGCCCCCCTCGGACAGCTGCGTCGTCCTAGCGCCAGGACGGAGGGGCCATGCCTGGGGAGCGCCCCCGAGGAGCGCCGCCCCCCACCATGACTGGAGACCTGCAGCCCCGCCAAGTTGCCAGCAGCCCGGGGCACCCCTCCCAGCCGCCACTGGAGGACAACACCCCAGCTACCAGGACCACCAAGGGTGCCAGGGAGGCTGGCGGCCAGGCCCAGGCCATGGAGCTCCCCGAGGCCCAGCCAAGGCAGGCCAGGGACGGGGAGCTCAAGCCCCCATCCCTGAGAGGCCAGGCCCCGAGCAGCACCCCTGGGAAGAGGGGCAGCCCCCAGACCCCACCGGGGAGAAGCCCCTTGCAGGCTCCCTCAAGGCTGGCGGGCAGGGCAGAGGGCAGCCCCCCACAGCGCTACATTCTGGGCATCGCCAGCTCGAGGACCAAGCCCACCCTGGACGAGACACCAGAGAACCCACAGCTGGAGGCTGCCCAGCTCCCTGAGGTGGACACCCCCCAGGGCCCTGGGACTGGAGCTCCACTCAGGCCGGGCCTCCCAAGGACTGAGGCCCAACCCGCCGCCGAAGAGCTTGGCTTCCACAGGTGCTTCCAGGAGCCACCCTCCAGCTTTACCTCCACCAACTATACCTCACCAAGCGCCACCCCCAGGCCCCCAGCCCCGGGGCCCCCCCAGAGCAGGGGCACCAGCCCCCTCCAGCCCGGTTCCTATCCCGAATACCAGGCCAGTGGGGCCGACTCCTGGCCTCCCGCTGCTGAGAATAGCTTCCCAGGTGCTAATTTCGGGGTTCCCCCCGCCGAGCCGGAACCTATTCCCAAAGGCAGCAGGCCCGGCGGCAGCCCCAGGGGAGTTTCCTTCCAGTTCCCCTTCCCGGCACTGCATGGGGCCAGCACAAAACCCTTCCCTGCGGATGTGGCTGGGCACGCATTCACCAATGGGCCACTGGTGTTTGCCTTCCATCAGCCCCAGGGAGCGTGGCCGGAGGAGGCCGTGGGCACGGGCCCTGCCTACCCGCTGCCCACCCAGCCTGCGCCCTCACCCCTGCCCTGCTACCAGGGCCAGCCAGGTGGCCTGAACCGCCACAGCGACCTCAGTGGTGCCCTCTCTTCCCCTGGAGCTGCTCACTCGGCCCCGAGACCCTTCTCTGACAGTTTACACAAGAGCCTGACCAAAATCCTTCCCGAAAGACCACCTTCAGCCCAGGATGGGCTGGGGAGCACGAGAGGGCCCCCTAGCTCCCTACCCCAGAGGCACTTTCCAGGGCAGGCGTACAGAGCCAGTGGGGTGGACACCAGCCCGGGGCCTCCGGACACCGAGCTGGCCGCCCCAGGGCCCCCACCCGCCAGGCTGCCCCAGCTGTGGGACCCCACAGCAGCCCCTTACCCCACACCTCCTGGGGGCCCCCTGGCTGCCACCAGGAGTATGTTCTTTAACGGCCAGCCCAGCCCAGGCCAGCGGCTCTGCCTCCCCCAGAGTGCCCCCCTGCCTTGGCCCCAAGTGCTCCCGACCGCCCGGCCAAGTCCCCACGGAATGGAGATGCTGAGCCGGCTGCCTTTCCCCGCGGGGGGCCCCGAGTGGCAGGGGGGCAGCCAAGGAGCCCTGGGCACTGCTGGCAAGACACCGGGACCCAGAGAGAAGCTGCCAGCCGTGAGAAGCAGCCAGGGCGGCTCCCCAGCACTGTTCACCTACAACGGAATGACAGACCCTGGGGCTCAGCCCCTGTTCTTCGGGGTGGCCCAGCCCCAGGTTTCACCCCACGGGACACCCAGCCTGCCCCCACCGAGGGTAGTGGGAGCCTCCCCCAGCGAGTCCCCACTGCCGTCACCGGCCACCAACACGGCCGGCAGCACCTGCTCTTCCCTGTCGCCGATGTCCAGCAGCCCAGCCAACCCCAGCTCAGAGGAAAGCCAGCTCCCCGGCCCCCTCGGGCCCTCGGCCTTCTTCCACCCACCCACTCACCCCCAGGAGACGGGCAGCCCCTTCCCGTCCCCGGAGCCCCCCCACTCCCTCCCCACCCACTACCAGCCAGAGCCAGCCAAGGCCTTCCCTTTTCCCGCAGATGGGCTGGGAGCCGAGGGTGCCTTCCAGTGCCTGGAGGAGACCCCATTCCCCCACGAGGGCCCCGAGGTGGGTCGGGGAGGGCTGCAGGGCTTCCCCCGTGCGCCGCCTCCGTACCCCACACACCACTTCTCCCTCAGCAGCGCCAGCCTGGACCAGCTGGACGTGCTGCTGACCTGCAGGCAGTGTGACCGCAACTACAGCAGCCTGGCGGCCTTCCTGGCCCACCGGCAGTTCTGTGGCCTGCTCCTGGCCAGGGCCAAGGATGGCCACCAGCGGTCTCCAGGCCCCCCTGGGCTCCCCTCGCCCCCCGCTGCCCCCAGAGTCCCTGCCGACGCACACGCGGGCTTGCTCAGCCACGCGAA
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AGAAGAGGGAAAGGGGCCCTCCTCCCGGGGTCATGGGACAGGAGGTACCTCAGTGGTGGGGGCAGAGGAGGAAGGGGCACCCGGGCCCCCCAGCTGGCATGACTCTTTTTGGTGGTGTGATGTGGAGTTTGCAGGCTGGGACCTCGCCCACCCTGGAGACCTTGGCCCAAATTGGGCAGGACCCTCCTCCCCGGTGCAGGCAGTCCCTGGGCACAGCAGGAAGAGCCAGCCGGAAGTACAGGTACCAACCTCGTGCTGGGGACAGAGGGCCTGCCAGCCTCTGCGTTAGGAGTCCCCAGGCGGCTGTAGTGCGGGAACTCCGGGAGGGGCATGAGACACCACCAGCTCAGGCCGGTGGGAGGGTCCTGTGACCTCAGGAGGCAGCCCCCGCCTCCACAGAGGCAGCAGGGTCTCTGAGAGTGCTCCAGGCCTGAGGCCTGTCCCTTCAGCTCCCAGCTGCTCTGCTGCTGGCTGTGTGACCCTGGCCAAGTCATCCGCCTCTCTGGGCCTGCCATGAGGACCCAGGGGTCAGTGGCAAGGACAATGCCTGCAAGGGCTGAGCCCTGCCTCACTCTGCTGTGTAAAGGACGCCCGGTCCCTGCTGGGCAAGTCAGAAGGGGCCCCCACACGGAGCGGCCTGCGCACCTCGTGGCCACAGCCAATGGCTCGGGTCTGAGTCCTGTCCGCACAGAGGACAGTCCCGTATGTCATGACATGAGAACAGACATGATGAGTGTGAAGCCAGCCCTGGGTGAGCAAGGGGCCAGGCTCCTCTGGGCAAGCGGCTCCTGCTACATCTGGCATGTGCCAGAATGGGAGCCGGCACCGTCTGGAGGCTGGGGGCTTCCTGGAGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGGGAGTCCCCGCTTGGAACCAGCCGCCCAGGCCCTGAGAGGTTCAGGTTGAGCCTCTGCTGCCTCAGTCCCCTATGTCCTGCAACGCAGCCTCCTGCCTCAAGGCCCTCCCCATGGCAGGTGTAAGCATCCACCTGGGCCCTCCTGGACGCTGCCAGGACCCTGCCCTGGGGCAGTTCCTGCAGGCTGAGAGCTTGTGCCCCACACAGGTGCCTGTCCTCTCCACAGCCTGGCCGAGGACTGCTCTGAGCCTGTAAGCGGCCTCCTCACACCCCAGAAAGCTCCCCCTCCCTCCCCCTCCACTCAATCTCTGCGCTCCACCGCCCCTCTTCTCCCTAAGACAGGGAAGGGTCCCTGTTCCATCTGGCGGGATGCCCTCTCCCTTCCTGCTTCTAGGTAGGGGCTGAGCCGAGCATCCCTTCTAAGCGCGGAGCTTCTGTGATGGCTGCACGCAGCCTCTTCTGCTTCTGGCCCGGCCACACCCGCATGGAGAGCCTAGAAGCTCCCTGTCTAGGCGAGGGCCACCCAGCCCCTCTGCCCCACTCACCCCTGACCTTTCCTTCCAGGCTCCACTCAGGACCATGAGCGCAGGCTTCCCTGGGGCCCATCGAGGGCTGAGGATGGCCGTCCAGCCCACTCCCCAGGGCCCCCCTCGGACAGCTGCGTCGTCCTAGCGCCAGGACGGAGGGGCCATGCCTGGGGAGCGCCCCCGAGGAGCGCCGCCCCCCACCATGACTGGAGACCTGCAGCCCCGCCAAGTTGCCAGCAGCCCGGGGCACCCCTCCCAGCCGCCACTGGAGGACAACACCCCAGCTACCAGGACCACCAAGGGTGCCAGGGAGGCTGGCGGCCAGGCCCAGGCCATGGAGCTCCCCGAGGCCCAGCCAAGGCAGGCCAGGGACGGGGAGCTCAAGCCCCCATCCCTGAGAGGCCAGGCCCCGAGCAGCACCCCTGGGAAGAGGGGCAGCCCCCAGACCCCACCGGGGAGAAGCCCCTTGCAGGCTCCCTCAAGGCTGGCGGGCAGGGCAAAGGGCAGCCCCCCACAGCGCTACATTCTGGGCATCGCCAGCTCGAGGACCAAGCCCACCCTGGACGAGACACCAGAGAACCCACAGCTGGAGGCTGCCCAGCTCCCTGAGGTGGACACCCCCCAGGGCCCTGGGACTGGAGCTCCACTCAGGCCGGGCCTCCCAAGGACTGAGGCCCAACCCGCCGCCGAAGAGCTTGGCTTCCACAGGTGCTTCCAGGAGCCACCCTCCAGCTTTACCTCCACCAACTATACCTCACCAAGCGCCACCCCCAGGCCCCCAGCCCCGGGGCCCCCCCAGAGCAGGGGCACCAGCCCCCTCCAGCCCGGTTCCTATCCCGAATACCAGGCCAGTGGGGCCGACTCCTGGCCTCCCGCTGCTGAGAATAGCTTCCCAGGTGCTAATTTCGGGGTTCCCCCCGCCGAGCCGGAACCTATTCCCAAAGGCAGCAGGCCCGGCGGCAGCCCCAGGGGAGTTTCCTTCCAGTTCCCCTTCCCGGCACTGCATGGGGCCAGCACAAAACCCTTCCCTGCGGATGTGGCTGGGCACGCATTCACCAATGGGCCACTGGTGTTTGCCTTCCATCAGCCCCAGGGAGCGTGGCCGGAGGAGGCCGTGGGCACGGGCCCTGCCTACCCGCTGCCCACCCAGCCTGCGCCCTCACCCCTGCCCTGCTACCAGGGCCAGCCAGGTGGCCTGAACCGCCACAGCGACCTCAGTGGTGCCCTCTCTTCCCCTGGAGCTGCTCACTCGGCCCCGAGACCCTTCTCTGACAGTTTACACAAGAGCCTGACCAAAATCCTTCCCGAAAGACCACCTTCAGCCCAGGATGGGCTGGGGAGCACGAGAGGGCCCCCTAGCTCCCTACCCCAGAGGCACTTTCCAGGGCAGGCGTACAGAGCCAGTGGGGTGGACACCAGCCCGGGGCCTCCGGACACCGAGCTGGCCGCCCCAGGGCCCCCACCCGCCAGGCTGCCCCAGCTGTGGGACCCCACAGCAGCCCCTTACCCCACACCTCCTGGGGGCCCCCTGGCTGCCACCAGGAGTATGTTCTTTAACGGCCAGCCCAGCCCAGGCCAGCGGCTCTGCCTCCCCCAGAGTGCCCCCCTGCCTTGGCCCCAAGTGCTCCCGACCGCCCGGCCAAGTCCCCACGGAATGGAGATGCTGAGCCGGCTGCCTTTCCCCGCGGGGGGCCCCGAGTGGCAGGGGGGCAGCCAAGGAGCCCTGGGCACTGCTGGCAAGACACCGGGACCCAGAGAGAAGCTGCCAGCCGTGAGAAGCAGCCAGGGCGGCTCCCCAGCACTGTTCACCTACAACGGAATGACAGACCCTGGGGCTCAGCCCCTGTTCTTCGGGGTGGCCCAGCCCCAGGTTTCACCCCACGGGACACCCAGCCTGCCCCCACCGAGGGTAGTGGGAGCCTCCCCCAGCGAGTCCCCACTGCCGTCACCGGCCACCAACACGGCCGGCAGCACCTGCTCTTCCCTGTCGCCGATGTCCAGCAGCCCAGCCAACCCCAGCTCAGAGGAAAGCCAGCTCCCCGGCCCCCTCGGGCCCTCGGCCTTCTTCCACCCACCCACTCACCCCCAGGAGACGGGCAGCCCCTTCCCGTCCCCGGAGCCCCCCCACTCCCTCCCCACCCACTACCAGCCAGAGCCAGCCAAGGCCTTCCCTTTTCCCGCAGATGGGCTGGGAGCCGAGGGTGCCTTCCAGTGCCTGGAGGAGACCCCATTCCCCCACGAGGGCCCCGAGGTGGGTCGGGGAGGGCTGCAGGGCTTCCCCCGTGCGCCGCCTCCGTACCCCACACACCACTTCTCCCTCAGCAGCGCCAGCCTGGACCAGCTGGACGTGCTGCTGACCTGCAGGCAGTGTGACCGCAACTACAGCAGCCTGGCGGCCTTCCTGGCCCACCGGCAGTTCTGTGGCCTGCTCCTGGCCAGGGCCAAGGATGGCCACCAGCGGTCTCCAGGCCCCCCTGGGCTCCCCTCGCCCCCCGCTGCCCCCAGAGTCCCTGCCGACGCACACGCGGGCTTGCTCAGCCACGCGAA
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Task1_train_22988
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Here is a genetic alteration in ZNF469 (zinc finger protein 469) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Keratoconus 1
|
CCCCCTCCAGCCCGGTTCCTATCCCGAATACCAGGCCAGTGGGGCCGACTCCTGGCCTCCCGCTGCTGAGAATAGCTTCCCAGGTGCTAATTTCGGGGTTCCCCCCGCCGAGCCGGAACCTATTCCCAAAGGCAGCAGGCCCGGCGGCAGCCCCAGGGGAGTTTCCTTCCAGTTCCCCTTCCCGGCACTGCATGGGGCCAGCACAAAACCCTTCCCTGCGGATGTGGCTGGGCACGCATTCACCAATGGGCCACTGGTGTTTGCCTTCCATCAGCCCCAGGGAGCGTGGCCGGAGGAGGCCGTGGGCACGGGCCCTGCCTACCCGCTGCCCACCCAGCCTGCGCCCTCACCCCTGCCCTGCTACCAGGGCCAGCCAGGTGGCCTGAACCGCCACAGCGACCTCAGTGGTGCCCTCTCTTCCCCTGGAGCTGCTCACTCGGCCCCGAGACCCTTCTCTGACAGTTTACACAAGAGCCTGACCAAAATCCTTCCCGAAAGACCACCTTCAGCCCAGGATGGGCTGGGGAGCACGAGAGGGCCCCCTAGCTCCCTACCCCAGAGGCACTTTCCAGGGCAGGCGTACAGAGCCAGTGGGGTGGACACCAGCCCGGGGCCTCCGGACACCGAGCTGGCCGCCCCAGGGCCCCCACCCGCCAGGCTGCCCCAGCTGTGGGACCCCACAGCAGCCCCTTACCCCACACCTCCTGGGGGCCCCCTGGCTGCCACCAGGAGTATGTTCTTTAACGGCCAGCCCAGCCCAGGCCAGCGGCTCTGCCTCCCCCAGAGTGCCCCCCTGCCTTGGCCCCAAGTGCTCCCGACCGCCCGGCCAAGTCCCCACGGAATGGAGATGCTGAGCCGGCTGCCTTTCCCCGCGGGGGGCCCCGAGTGGCAGGGGGGCAGCCAAGGAGCCCTGGGCACTGCTGGCAAGACACCGGGACCCAGAGAGAAGCTGCCAGCCGTGAGAAGCAGCCAGGGCGGCTCCCCAGCACTGTTCACCTACAACGGAATGACAGACCCTGGGGCTCAGCCCCTGTTCTTCGGGGTGGCCCAGCCCCAGGTTTCACCCCACGGGACACCCAGCCTGCCCCCACCGAGGGTAGTGGGAGCCTCCCCCAGCGAGTCCCCACTGCCGTCACCGGCCACCAACACGGCCGGCAGCACCTGCTCTTCCCTGTCGCCGATGTCCAGCAGCCCAGCCAACCCCAGCTCAGAGGAAAGCCAGCTCCCCGGCCCCCTCGGGCCCTCGGCCTTCTTCCACCCACCCACTCACCCCCAGGAGACGGGCAGCCCCTTCCCGTCCCCGGAGCCCCCCCACTCCCTCCCCACCCACTACCAGCCAGAGCCAGCCAAGGCCTTCCCTTTTCCCGCAGATGGGCTGGGAGCCGAGGGTGCCTTCCAGTGCCTGGAGGAGACCCCATTCCCCCACGAGGGCCCCGAGGTGGGTCGGGGAGGGCTGCAGGGCTTCCCCCGTGCGCCGCCTCCGTACCCCACACACCACTTCTCCCTCAGCAGCGCCAGCCTGGACCAGCTGGACGTGCTGCTGACCTGCAGGCAGTGTGACCGCAACTACAGCAGCCTGGCGGCCTTCCTGGCCCACCGGCAGTTCTGTGGCCTGCTCCTGGCCAGGGCCAAGGATGGCCACCAGCGGTCTCCAGGCCCCCCTGGGCTCCCCTCGCCCCCCGCTGCCCCCAGAGTCCCTGCCGACGCACACGCGGGCTTGCTCAGCCACGCGAAGACCTTCCTGTTAGCTGGGGACGCCCAGGCCGAGGGCAAAGACGACCCCCTGAGGACAGGCTTCCTGCCCAGCCTGGCCGCCACCCCCTTCCCGCTCCCTGCCTCGGACCTGGACATGGAGGATGACGCCAAGCTGGACAGCCTCATCACAGAGGCGCTCAACGGCATGGAGTACCAGTCGGACAACCCGGAGATCGACAGCAGCTTCATCGACGTCTTCGCGGACGAGGAGCCTTCCGGCCCCAGAGGTCCCAGCTCCGGACACCCCCTTAAGAGCAAGGCGGGGGTGACTCCAGAGAGCAAAGCTCCGCCCCCGCTCCCAGCAGCCACGCCGGACCCCCAAACCCCCCGCCCTGGGGACAGGGGCTGCCCAGCCCGAGGCAGGCCCAAAACGCGTTCCCTGGGTCTGGCCCCCACCGAGGCGGATGCGCCCAGCCAGGGCAGGCAGCAGAGGAGGGGGAAGCAGTTGAAGCTGTTCCGGAAGGATCTGGACTCGGGCGGCGCAGCAGAGGGGTCGGGGTCGGGCGGCGGCGGCAGAGCCTCCGGCCTGAGGCCCCGGAGGAACGACGGTCTCGGGGAGCGGCCCCCACCCCGTCCCCGGCGCCCTAGAACGCAGGCCCCCGGGAGCCGCGCAGACCCCGCGCCCCGGGTCCCGAGAGCCGCCGCCCTCCCCGAGGAGACCCGCAGCTCCCGGCGCCGCCGGCTGCCCCCCAGGAAGGACCCCAGGAAGAGGAAGGCTCGGGGCGGCGCCTGGGGCAAGGAGCTCATTCTGAAGATCGTGCAGCAGAAGAACAGGCGCCACCGGCGGCTGGGGCGGCGGGCGGGCAGGTGCGGCTCCCTGGCGGCGGGGAGGCCCCGGCCCGGAGCTGAGGACCGCAGGCTCCGCGAGTACGACTTCGCCTCGGAGTCCGAGGAGGACGAGCAGCCTCCGCCGCGGGGCCCCGGCTTCAGAGGCCGGCGGGGCCGAGGCGAGAAGAGGAAGGAAGTGGAGCTGACCCAGGGTCCCAGAGAGGATGAGCCACAGAAACCCCGGAAGGCGGCGAGGCAGGAAGCCGGCGGGGACGGAGCCCCCGCGAACCCCGAGGAGCCGGGCGGGTCTCGCCCGGGCCCCGGCAGGAGCCCTCAGGCCCGTGGCCCGTCTCGAAGCCTGGAGACGGGAGCGGCCGCCAGGGAGGGAGGCCCCAAGTGTGCTGATCGCCCCTCAGTGGCCCCCAAGGATCCCCTGCAGGTCCCCACCAACACCGAGACCTCAGAGGAAACCCGCCCGTCGCTGGACTTTCCCCAGGAGGCCAAGGAGCCTGAAACTGCCGAAGAGTCAGCCCCGGACAGCACAGAATTCACAGAGGCTTTGCGTTCTCCTCCAGCCGCCTGTGCGGGAGAAATGGGAGCAAGCCCCGGTCTCCTGATACCAGAGCAGCCGCCGCCCAGCAGACATGACACCGGCACCCCCAAGCCGTCGGGAAGCCTCGCCAACACGGCGCCCCACGGAAGCTCGCCAACGCCAGGTGTGGGCAGCCTGCTGGGTGGTCCTGGGGGCACACAGGCCCCAGTCTCCCACAACAGCAAGGACCCCCCTGCCCGCCAGCCTGGAGAATTTCTGGCACCCGTGGCTAACCCCTCAAGTACCGCCTGCCCCAAACCCAGTGTTCTGTCTTCAAAGATCTCCAGTTTTGGCTGTGACCCTGCTGGTTTTAACAGAGACCCCTTGGGGGTTCCAGTTGCCAAAAAGGGGCCTCAGCCCTACAGCAGCCCCCACAGTGAGTTGTTCCTCGGACCCAAAGACCTGGCTGGCTGTTTCCTGGAAGAACTGCACCCCAAGCCCTCAGCCAGGGATGCCCCGCCGGCCAGCAGCTCCTGCCTTTGCCAGGACGGCGAGGATGCCGGTTCCCTCGAGCCACAGCTGCCAAGGAGCCCACCTGGCACCGCTGAGACGGAGCCAGGCAGGGCTGCATCGCCACCGACCTTGGAGTCCTCATCCCTCTTCCCAGACCTGCCGGTGGACAGATTCGACCCACCCCTCTATGGCAGCCTGTCTGCGAACAGGGACTCCGGTCTGCCGTTCGCATGTGCCGACCCTCCCCAGAAGACGGTGCCGTCAGATCCACCGTACCCCTCTTTTTTGCTGCTTGAGGAAGTATCCCCGATGCTGCCTAGCCATTTTCCTGATCTCTCGGGGGGAAAGGTGCTCAGTAAGACGTGTCCCCCTGAACGGACAGTGGTTCCCGGCGCCGCCCCATCTTTGCCTGGGAAGGGGAGTGGATGTAGCGTTGCTCTTATGAGTCACCTGTCCGAGGATGAACTGGAGATCCAGAAATTGGTCACCGAATTAGAAAGTCAGCTGCAAAGGAGCAAAGACACACGT
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CCCCCTCCAGCCCGGTTCCTATCCCGAATACCAGGCCAGTGGGGCCGACTCCTGGCCTCCCGCTGCTGAGAATAGCTTCCCAGGTGCTAATTTCGGGGTTCCCCCCGCCGAGCCGGAACCTATTCCCAAAGGCAGCAGGCCCGGCGGCAGCCCCAGGGGAGTTTCCTTCCAGTTCCCCTTCCCGGCACTGCATGGGGCCAGCACAAAACCCTTCCCTGCGGATGTGGCTGGGCACGCATTCACCAATGGGCCACTGGTGTTTGCCTTCCATCAGCCCCAGGGAGCGTGGCCGGAGGAGGCCGTGGGCACGGGCCCTGCCTACCCGCTGCCCACCCAGCCTGCGCCCTCACCCCTGCCCTGCTACCAGGGCCAGCCAGGTGGCCTGAACCGCCACAGCGACCTCAGTGGTGCCCTCTCTTCCCCTGGAGCTGCTCACTCGGCCCCGAGACCCTTCTCTGACAGTTTACACAAGAGCCTGACCAAAATCCTTCCCGAAAGACCACCTTCAGCCCAGGATGGGCTGGGGAGCACGAGAGGGCCCCCTAGCTCCCTACCCCAGAGGCACTTTCCAGGGCAGGCGTACAGAGCCAGTGGGGTGGACACCAGCCCGGGGCCTCCGGACACCGAGCTGGCCGCCCCAGGGCCCCCACCCGCCAGGCTGCCCCAGCTGTGGGACCCCACAGCAGCCCCTTACCCCACACCTCCTGGGGGCCCCCTGGCTGCCACCAGGAGTATGTTCTTTAACGGCCAGCCCAGCCCAGGCCAGCGGCTCTGCCTCCCCCAGAGTGCCCCCCTGCCTTGGCCCCAAGTGCTCCCGACCGCCCGGCCAAGTCCCCACGGAATGGAGATGCTGAGCCGGCTGCCTTTCCCCGCGGGGGGCCCCGAGTGGCAGGGGGGCAGCCAAGGAGCCCTGGGCACTGCTGGCAAGACACCGGGACCCAGAGAGAAGCTGCCAGCCGTGAGAAGCAGCCAGGGCGGCTCCCCAGCACTGTTCACCTACAACGGAATGACAGACCCTGGGGCTCAGCCCCTGTTCTTCGGGGTGGCCCAGCCCCAGGTTTCACCCCACGGGACACCCAGCCTGCCCCCACCGAGGGTAGTGGGAGCCTCCCCCAGCGAGTCCCCACTGCCGTCACCGGCCACCAACACGGCCGGCAGCACCTGCTCTTCCCTGTCGCCGATGTCCAGCAGCCCAGCCAACCCCAGCTCAGAGGAAAGCCAGCTCCCCGGCCCCCTCGGGCCCTCGGCCTTCTTCCACCCACCCACTCACCCCCAGGAGACGGGCAGCCCCTTCCCGTCCCCGGAGCCCCCCCACTCCCTCCCCACCCACTACCAGCCAGAGCCAGCCAAGGCCTTCCCTTTTCCCGCAGATGGGCTGGGAGCCGAGGGTGCCTTCCAGTGCCTGGAGGAGACCCCATTCCCCCACGAGGGCCCCGAGGTGGGTCGGGGAGGGCTGCAGGGCTTCCCCCGTGCGCCGCCTCCGTACCCCACACACCACTTCTCCCTCAGCAGCGCCAGCCTGGACCAGCTGGACGTGCTGCTGACCTGCAGGCAGTGTGACCGCAACTACAGCAGCCTGGCGGCCTTCCTGGCCCACCGGCAGTTCTGTGGCCTGCTCCTGGCCAGGGCCAAGGATGGCCACCAGCGGTCTCCAGGCCCCCCTGGGCTCCCCTCGCCCCCCGCTGCCCCCAGAGTCCCTGCCGACGCACACGCGGGCTTGCTCAGCCACGCGAAGACCTTCCTGTTAGCTGGGGACGCCCAGGCCGAGGGCAAAGACGACCCCCTGAGGACAGGCTTCCTGCCCAGCCTGGCCGCCACCCCCTTCCCGCTCCCTGCCTCGGACCTGGACATGGAGGATGACGCCAAGCTGGACAGCCTCATCACAGAGGCGCTCAACGGCATGGAGTACCAGTCGGACAACCCGGAGATCGACAGCAGCTTCATCGACGTCTTCGCGGACGAGGAGCCTTCCGGCCCCAGAGGTCCCAGCTCCGGACACCCCCTTAAGAGCAAGGCGGGGGTGACTCCAGAGAGCAAAGCTCCGCCCCGGCTCCCAGCAGCCACGCCGGACCCCCAAACCCCCCGCCCTGGGGACAGGGGCTGCCCAGCCCGAGGCAGGCCCAAAACGCGTTCCCTGGGTCTGGCCCCCACCGAGGCGGATGCGCCCAGCCAGGGCAGGCAGCAGAGGAGGGGGAAGCAGTTGAAGCTGTTCCGGAAGGATCTGGACTCGGGCGGCGCAGCAGAGGGGTCGGGGTCGGGCGGCGGCGGCAGAGCCTCCGGCCTGAGGCCCCGGAGGAACGACGGTCTCGGGGAGCGGCCCCCACCCCGTCCCCGGCGCCCTAGAACGCAGGCCCCCGGGAGCCGCGCAGACCCCGCGCCCCGGGTCCCGAGAGCCGCCGCCCTCCCCGAGGAGACCCGCAGCTCCCGGCGCCGCCGGCTGCCCCCCAGGAAGGACCCCAGGAAGAGGAAGGCTCGGGGCGGCGCCTGGGGCAAGGAGCTCATTCTGAAGATCGTGCAGCAGAAGAACAGGCGCCACCGGCGGCTGGGGCGGCGGGCGGGCAGGTGCGGCTCCCTGGCGGCGGGGAGGCCCCGGCCCGGAGCTGAGGACCGCAGGCTCCGCGAGTACGACTTCGCCTCGGAGTCCGAGGAGGACGAGCAGCCTCCGCCGCGGGGCCCCGGCTTCAGAGGCCGGCGGGGCCGAGGCGAGAAGAGGAAGGAAGTGGAGCTGACCCAGGGTCCCAGAGAGGATGAGCCACAGAAACCCCGGAAGGCGGCGAGGCAGGAAGCCGGCGGGGACGGAGCCCCCGCGAACCCCGAGGAGCCGGGCGGGTCTCGCCCGGGCCCCGGCAGGAGCCCTCAGGCCCGTGGCCCGTCTCGAAGCCTGGAGACGGGAGCGGCCGCCAGGGAGGGAGGCCCCAAGTGTGCTGATCGCCCCTCAGTGGCCCCCAAGGATCCCCTGCAGGTCCCCACCAACACCGAGACCTCAGAGGAAACCCGCCCGTCGCTGGACTTTCCCCAGGAGGCCAAGGAGCCTGAAACTGCCGAAGAGTCAGCCCCGGACAGCACAGAATTCACAGAGGCTTTGCGTTCTCCTCCAGCCGCCTGTGCGGGAGAAATGGGAGCAAGCCCCGGTCTCCTGATACCAGAGCAGCCGCCGCCCAGCAGACATGACACCGGCACCCCCAAGCCGTCGGGAAGCCTCGCCAACACGGCGCCCCACGGAAGCTCGCCAACGCCAGGTGTGGGCAGCCTGCTGGGTGGTCCTGGGGGCACACAGGCCCCAGTCTCCCACAACAGCAAGGACCCCCCTGCCCGCCAGCCTGGAGAATTTCTGGCACCCGTGGCTAACCCCTCAAGTACCGCCTGCCCCAAACCCAGTGTTCTGTCTTCAAAGATCTCCAGTTTTGGCTGTGACCCTGCTGGTTTTAACAGAGACCCCTTGGGGGTTCCAGTTGCCAAAAAGGGGCCTCAGCCCTACAGCAGCCCCCACAGTGAGTTGTTCCTCGGACCCAAAGACCTGGCTGGCTGTTTCCTGGAAGAACTGCACCCCAAGCCCTCAGCCAGGGATGCCCCGCCGGCCAGCAGCTCCTGCCTTTGCCAGGACGGCGAGGATGCCGGTTCCCTCGAGCCACAGCTGCCAAGGAGCCCACCTGGCACCGCTGAGACGGAGCCAGGCAGGGCTGCATCGCCACCGACCTTGGAGTCCTCATCCCTCTTCCCAGACCTGCCGGTGGACAGATTCGACCCACCCCTCTATGGCAGCCTGTCTGCGAACAGGGACTCCGGTCTGCCGTTCGCATGTGCCGACCCTCCCCAGAAGACGGTGCCGTCAGATCCACCGTACCCCTCTTTTTTGCTGCTTGAGGAAGTATCCCCGATGCTGCCTAGCCATTTTCCTGATCTCTCGGGGGGAAAGGTGCTCAGTAAGACGTGTCCCCCTGAACGGACAGTGGTTCCCGGCGCCGCCCCATCTTTGCCTGGGAAGGGGAGTGGATGTAGCGTTGCTCTTATGAGTCACCTGTCCGAGGATGAACTGGAGATCCAGAAATTGGTCACCGAATTAGAAAGTCAGCTGCAAAGGAGCAAAGACACACGT
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Task1_train_22989
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This sequence variant lies in ZNF469 (zinc finger protein 469) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Cardiovascular phenotype
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CTGGGGACGCCCAGGCCGAGGGCAAAGACGACCCCCTGAGGACAGGCTTCCTGCCCAGCCTGGCCGCCACCCCCTTCCCGCTCCCTGCCTCGGACCTGGACATGGAGGATGACGCCAAGCTGGACAGCCTCATCACAGAGGCGCTCAACGGCATGGAGTACCAGTCGGACAACCCGGAGATCGACAGCAGCTTCATCGACGTCTTCGCGGACGAGGAGCCTTCCGGCCCCAGAGGTCCCAGCTCCGGACACCCCCTTAAGAGCAAGGCGGGGGTGACTCCAGAGAGCAAAGCTCCGCCCCCGCTCCCAGCAGCCACGCCGGACCCCCAAACCCCCCGCCCTGGGGACAGGGGCTGCCCAGCCCGAGGCAGGCCCAAAACGCGTTCCCTGGGTCTGGCCCCCACCGAGGCGGATGCGCCCAGCCAGGGCAGGCAGCAGAGGAGGGGGAAGCAGTTGAAGCTGTTCCGGAAGGATCTGGACTCGGGCGGCGCAGCAGAGGGGTCGGGGTCGGGCGGCGGCGGCAGAGCCTCCGGCCTGAGGCCCCGGAGGAACGACGGTCTCGGGGAGCGGCCCCCACCCCGTCCCCGGCGCCCTAGAACGCAGGCCCCCGGGAGCCGCGCAGACCCCGCGCCCCGGGTCCCGAGAGCCGCCGCCCTCCCCGAGGAGACCCGCAGCTCCCGGCGCCGCCGGCTGCCCCCCAGGAAGGACCCCAGGAAGAGGAAGGCTCGGGGCGGCGCCTGGGGCAAGGAGCTCATTCTGAAGATCGTGCAGCAGAAGAACAGGCGCCACCGGCGGCTGGGGCGGCGGGCGGGCAGGTGCGGCTCCCTGGCGGCGGGGAGGCCCCGGCCCGGAGCTGAGGACCGCAGGCTCCGCGAGTACGACTTCGCCTCGGAGTCCGAGGAGGACGAGCAGCCTCCGCCGCGGGGCCCCGGCTTCAGAGGCCGGCGGGGCCGAGGCGAGAAGAGGAAGGAAGTGGAGCTGACCCAGGGTCCCAGAGAGGATGAGCCACAGAAACCCCGGAAGGCGGCGAGGCAGGAAGCCGGCGGGGACGGAGCCCCCGCGAACCCCGAGGAGCCGGGCGGGTCTCGCCCGGGCCCCGGCAGGAGCCCTCAGGCCCGTGGCCCGTCTCGAAGCCTGGAGACGGGAGCGGCCGCCAGGGAGGGAGGCCCCAAGTGTGCTGATCGCCCCTCAGTGGCCCCCAAGGATCCCCTGCAGGTCCCCACCAACACCGAGACCTCAGAGGAAACCCGCCCGTCGCTGGACTTTCCCCAGGAGGCCAAGGAGCCTGAAACTGCCGAAGAGTCAGCCCCGGACAGCACAGAATTCACAGAGGCTTTGCGTTCTCCTCCAGCCGCCTGTGCGGGAGAAATGGGAGCAAGCCCCGGTCTCCTGATACCAGAGCAGCCGCCGCCCAGCAGACATGACACCGGCACCCCCAAGCCGTCGGGAAGCCTCGCCAACACGGCGCCCCACGGAAGCTCGCCAACGCCAGGTGTGGGCAGCCTGCTGGGTGGTCCTGGGGGCACACAGGCCCCAGTCTCCCACAACAGCAAGGACCCCCCTGCCCGCCAGCCTGGAGAATTTCTGGCACCCGTGGCTAACCCCTCAAGTACCGCCTGCCCCAAACCCAGTGTTCTGTCTTCAAAGATCTCCAGTTTTGGCTGTGACCCTGCTGGTTTTAACAGAGACCCCTTGGGGGTTCCAGTTGCCAAAAAGGGGCCTCAGCCCTACAGCAGCCCCCACAGTGAGTTGTTCCTCGGACCCAAAGACCTGGCTGGCTGTTTCCTGGAAGAACTGCACCCCAAGCCCTCAGCCAGGGATGCCCCGCCGGCCAGCAGCTCCTGCCTTTGCCAGGACGGCGAGGATGCCGGTTCCCTCGAGCCACAGCTGCCAAGGAGCCCACCTGGCACCGCTGAGACGGAGCCAGGCAGGGCTGCATCGCCACCGACCTTGGAGTCCTCATCCCTCTTCCCAGACCTGCCGGTGGACAGATTCGACCCACCCCTCTATGGCAGCCTGTCTGCGAACAGGGACTCCGGTCTGCCGTTCGCATGTGCCGACCCTCCCCAGAAGACGGTGCCGTCAGATCCACCGTACCCCTCTTTTTTGCTGCTTGAGGAAGTATCCCCGATGCTGCCTAGCCATTTTCCTGATCTCTCGGGGGGAAAGGTGCTCAGTAAGACGTGTCCCCCTGAACGGACAGTGGTTCCCGGCGCCGCCCCATCTTTGCCTGGGAAGGGGAGTGGATGTAGCGTTGCTCTTATGAGTCACCTGTCCGAGGATGAACTGGAGATCCAGAAATTGGTCACCGAATTAGAAAGTCAGCTGCAAAGGAGCAAAGACACACGTGGGGCCCCGAGAGAGCTTGCAGAAGCTGAGTCGGTGGGCAGGGTGGAGCTCGGCACAGGCACAGAGCCACCCTCCCAACGGCGCACCTGCCAGGCCACCGTGCCCCACGAGGACACGTTCTCGGCAGCTGACCTCACGCGCGTTGGAGAATCCACTGCACATCGGGAGGGTGCGGAATCGGCTGTGGCCACCGTGGAAGCGGTTCAGGGGAGGCCTGGGGGGACGTGGCCCTGCCCAGCCTCCTTCCATCCGGGACATGCAGCCCTTCTCCCCTGTGCCCAGGAAGACCTGGTTTCTGGGGCTCCTTTCAGCCCCAGGGGAGCCAACTTCCATTTTCAGCCAGTGCAGAAAGCCGGAGCCTCCAAGACTGGACTTTGCCAGGCAGAAGGAGACAGCAGGCCCCCCCAAGATGTCTGCCTGCCTGAGCCCAGCAAGCAGCCTGGCCCACAGCTGGATGCCGGGAGTTTAGCAAAGTGCAGCCCCGACCAGGAACTTTCATTTCCTAAGAATAAGGAGGCCGCCAGCTCACAAGAAAGTGAAGACTCCCTGCGGCTGCTTCCCTGTGAACAGAGAGGAGGGTTCCTCCCAGAGCCCGGCACAGCAGACCAGCCCCACCGAGGGGCCCCTGCTCCAGAAGCTTTTGGCAGCCCTGCTGTCCATCTGGCCCCTGACTTGGCATTTCAGGGTGACGGGGCTCCACCTCTGGATGCCACCTGGCCTTTTGGTGCCAGTCCCAGCCATGCTGCCCAGGGACATTCTGCAGGCAGAGCAGGTGGGCACCTCCACCCCACGGCAGGGAGGCCTGGCTTTGAGGGTAATGAGTTTGCACCGGCGGGGGCCTCCTCACTGACTGCCCCCCGGGGCAGGGAGGCTTGGTTGGTCCCTGTGCCAAGTCCCGCCTGTGTATCCAACACCCACCCTAGCAGGAGGTCCCAGGACCCAGCTTTGAGCCCCCCCATACGTCAGCTCCAGCTCCCAGGGCCTGGAGTGGCTAAGAGTAAAGATGGCATCCTGGGCTTGCAGGAGCTGACACCTGCTGCCCAGAGCCCTCCACGAGTGAACCCCTCAGGTCTGGAAGGGGGCACTGTGGAAGGAGGGAAGGTGGCCTGTGGCCCCGCCCAGGGCTCCCCAGGGGGTGTGCAGGTGACAACTCTCCCTGCAGTGGCCGGACATCAGCTGGGGCTGGAGGCAGATGGACATTGGGGCTTGCTTGGCCAAGCCGAGAAAACCCAGGGCCAAGGCACAGCCAACCAGCTTCAGCCAGAGAACGGGGTGAGCCCAGGGGGCACGGACAACCACGCCTCAGTCAATGCCAGTCCCAAAACAGCGCTGACCGGCCCCACCGAGGGTGCAGTCCTGCTAGAGAAATGCAAGGGAAGCAGGGCAGCCATGAGCCTTCAGGAGGAGGCCGAGCCCACCCCAAGCCCCCCGTCCCCTAATAGGGAGTCCCTGGCGCTGGCCTTGACAGCAGCCCACAGCCGAAGTGGATCTGAGGGCCGGACTCCAGAGAGGGCGTCCAGCCCCGGCCTGAACAAGCCACTGCTGGCCACAGGGGATAGCCCAGCACCCTCTGTCGGGGACCTGGCCGCCTGCGCCCCCTCACCCACTTCAGCCGCCCACATGCCCTGCAGCCTTGGGCCCCTGCCCCGTGAAGACCCACTTACCTCGCCTTCCAGGGCCCAAGGTGGGCTGGGGGGGCAGCTGCCAGCATCTCCGTCCTGCAGGGACCCTCCCGGCCCCCAGCAGCT
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CTGGGGACGCCCAGGCCGAGGGCAAAGACGACCCCCTGAGGACAGGCTTCCTGCCCAGCCTGGCCGCCACCCCCTTCCCGCTCCCTGCCTCGGACCTGGACATGGAGGATGACGCCAAGCTGGACAGCCTCATCACAGAGGCGCTCAACGGCATGGAGTACCAGTCGGACAACCCGGAGATCGACAGCAGCTTCATCGACGTCTTCGCGGACGAGGAGCCTTCCGGCCCCAGAGGTCCCAGCTCCGGACACCCCCTTAAGAGCAAGGCGGGGGTGACTCCAGAGAGCAAAGCTCCGCCCCCGCTCCCAGCAGCCACGCCGGACCCCCAAACCCCCCGCCCTGGGGACAGGGGCTGCCCAGCCCGAGGCAGGCCCAAAACGCGTTCCCTGGGTCTGGCCCCCACCGAGGCGGATGCGCCCAGCCAGGGCAGGCAGCAGAGGAGGGGGAAGCAGTTGAAGCTGTTCCGGAAGGATCTGGACTCGGGCGGCGCAGCAGAGGGGTCGGGGTCGGGCGGCGGCGGCAGAGCCTCCGGCCTGAGGCCCCGGAGGAACGACGGTCTCGGGGAGCGGCCCCCACCCCGTCCCCGGCGCCCTAGAACGCAGGCCCCCGGGAGCCGCGCAGACCCCGCGCCCCGGGTCCCGAGAGCCGCCGCCCTCCCCGAGGAGACCCGCAGCTCCCGGCGCCGCCGGCTGCCCCCCAGGAAGGACCCCAGGAAGAGGAAGGCTCGGGGCGGCGCCTGGGGCAAGGAGCTCATTCTGAAGATCGTGCAGCAGAAGAACAGGCGCCACCGGCGGCTGGGGCGGCGGGCGGGCAGGTGCGGCTCCCTGGCGGCGGGGAGGCCCCGGCCCGGAGCTGAGGACCGCAGGCTCCGCGAGTACGACTTCGCCTCGGAGTCCGAGGAGGACGAGCAGCCTCCGCCGCGGGGCCCCGGCTTCAGAGGCCGGCGGGGCCGAGGCGAGAAGAGGAAGGAAGTGGAGCTGACCCAGGGTCCCAGAGAGGATGAGCCACAGAAACCCCGGAAGGCGGCGAGGCAGGAAGCCGGCGGGGACGGAGCCCCCGCGAACCCCGAGGAGCCGGGCGGGTCTCGCCCGGGCCCCGGCAGGAGCCCTCAGGCCCGTGGCCCGTCTCGAAGCCTGGAGACGGGAGCGGCCGCCAGGGAGGGAGGCCCCAAGTGTGCTGATCGCCCCTCAGTGGCCCCCAAGGATCCCCTGCAGGTCCCCACCAACACCGAGACCTCAGAGGAAACCCGCCCGTCGCTGGACTTTCCCCAGGAGGCCAAGGAGCCTGAAACTGCCGAAGAGTCAGCCCCGGACAGCACAGAATTCACAGAGGCTTTGCGTTCTCCTCCAGCCGCCTGTGCGGGAGAAATGGGAGCAAGCCCCGGTCTCCTGATACCAGAGCAGCCGCCGCCCAGCAGACATGACACCGGCACCCCCAAGCCGTCGGGAAGCCTCGCCAACACGGCGCCCCACGGAAGCTCGCCAACGCCAGGTGTGGGCAGCCTGCTGGGTGGTCCTGGGGGCACACAGGCCCCAGTCTCCCACAACAGCAAGGACCCCCCTGCCCGCCAGCCTGGAGAATTTCTGGCACCCGTGGCTAACCCCTCAAGTACCGCCTGCCCCAAACCCAGTGTTCTGTCTTCAAAGATCTCCAGTTTTGGCTGTGACCCTGCTGGTTTTAACAGAGACCCCTTGGGGGTTCCAGTTGCCAAAAAGGGGCCTCAGCCCTACAGCAGCCCCCACAGTGAGTTGTTCCTCGGACCCAAAGACCTGGCTGGCTGTTTCCTGGAAGAACTGCACCCCAAGCCCTCAGCCAGGGATGCCCCGCCGGCCAGCAGCTCCTGCCTTTGCCAGGACGGCGAGGATGCCGGTTCCCTCGAGCCACAGCTGCCAAGGAGCCCACCTGGCACCGCTGAGACGGAGCCAGGCAGGGCTGCATCGCCACCGACCTTGGAGTCCTCATCCCTCTTCCCAGACCTGCCGGTGGACAGATTCGACCCACCCCTCTATGGCAGCCTGTCTGCGAACAGGGACTCCGGTCTGCCGTTCTCATGTGCCGACCCTCCCCAGAAGACGGTGCCGTCAGATCCACCGTACCCCTCTTTTTTGCTGCTTGAGGAAGTATCCCCGATGCTGCCTAGCCATTTTCCTGATCTCTCGGGGGGAAAGGTGCTCAGTAAGACGTGTCCCCCTGAACGGACAGTGGTTCCCGGCGCCGCCCCATCTTTGCCTGGGAAGGGGAGTGGATGTAGCGTTGCTCTTATGAGTCACCTGTCCGAGGATGAACTGGAGATCCAGAAATTGGTCACCGAATTAGAAAGTCAGCTGCAAAGGAGCAAAGACACACGTGGGGCCCCGAGAGAGCTTGCAGAAGCTGAGTCGGTGGGCAGGGTGGAGCTCGGCACAGGCACAGAGCCACCCTCCCAACGGCGCACCTGCCAGGCCACCGTGCCCCACGAGGACACGTTCTCGGCAGCTGACCTCACGCGCGTTGGAGAATCCACTGCACATCGGGAGGGTGCGGAATCGGCTGTGGCCACCGTGGAAGCGGTTCAGGGGAGGCCTGGGGGGACGTGGCCCTGCCCAGCCTCCTTCCATCCGGGACATGCAGCCCTTCTCCCCTGTGCCCAGGAAGACCTGGTTTCTGGGGCTCCTTTCAGCCCCAGGGGAGCCAACTTCCATTTTCAGCCAGTGCAGAAAGCCGGAGCCTCCAAGACTGGACTTTGCCAGGCAGAAGGAGACAGCAGGCCCCCCCAAGATGTCTGCCTGCCTGAGCCCAGCAAGCAGCCTGGCCCACAGCTGGATGCCGGGAGTTTAGCAAAGTGCAGCCCCGACCAGGAACTTTCATTTCCTAAGAATAAGGAGGCCGCCAGCTCACAAGAAAGTGAAGACTCCCTGCGGCTGCTTCCCTGTGAACAGAGAGGAGGGTTCCTCCCAGAGCCCGGCACAGCAGACCAGCCCCACCGAGGGGCCCCTGCTCCAGAAGCTTTTGGCAGCCCTGCTGTCCATCTGGCCCCTGACTTGGCATTTCAGGGTGACGGGGCTCCACCTCTGGATGCCACCTGGCCTTTTGGTGCCAGTCCCAGCCATGCTGCCCAGGGACATTCTGCAGGCAGAGCAGGTGGGCACCTCCACCCCACGGCAGGGAGGCCTGGCTTTGAGGGTAATGAGTTTGCACCGGCGGGGGCCTCCTCACTGACTGCCCCCCGGGGCAGGGAGGCTTGGTTGGTCCCTGTGCCAAGTCCCGCCTGTGTATCCAACACCCACCCTAGCAGGAGGTCCCAGGACCCAGCTTTGAGCCCCCCCATACGTCAGCTCCAGCTCCCAGGGCCTGGAGTGGCTAAGAGTAAAGATGGCATCCTGGGCTTGCAGGAGCTGACACCTGCTGCCCAGAGCCCTCCACGAGTGAACCCCTCAGGTCTGGAAGGGGGCACTGTGGAAGGAGGGAAGGTGGCCTGTGGCCCCGCCCAGGGCTCCCCAGGGGGTGTGCAGGTGACAACTCTCCCTGCAGTGGCCGGACATCAGCTGGGGCTGGAGGCAGATGGACATTGGGGCTTGCTTGGCCAAGCCGAGAAAACCCAGGGCCAAGGCACAGCCAACCAGCTTCAGCCAGAGAACGGGGTGAGCCCAGGGGGCACGGACAACCACGCCTCAGTCAATGCCAGTCCCAAAACAGCGCTGACCGGCCCCACCGAGGGTGCAGTCCTGCTAGAGAAATGCAAGGGAAGCAGGGCAGCCATGAGCCTTCAGGAGGAGGCCGAGCCCACCCCAAGCCCCCCGTCCCCTAATAGGGAGTCCCTGGCGCTGGCCTTGACAGCAGCCCACAGCCGAAGTGGATCTGAGGGCCGGACTCCAGAGAGGGCGTCCAGCCCCGGCCTGAACAAGCCACTGCTGGCCACAGGGGATAGCCCAGCACCCTCTGTCGGGGACCTGGCCGCCTGCGCCCCCTCACCCACTTCAGCCGCCCACATGCCCTGCAGCCTTGGGCCCCTGCCCCGTGAAGACCCACTTACCTCGCCTTCCAGGGCCCAAGGTGGGCTGGGGGGGCAGCTGCCAGCATCTCCGTCCTGCAGGGACCCTCCCGGCCCCCAGCAGCT
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Task1_train_22990
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Here is a mutation in ZNF469 (zinc finger protein 469) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Keratoconus 1
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CTCAGAGGAAACCCGCCCGTCGCTGGACTTTCCCCAGGAGGCCAAGGAGCCTGAAACTGCCGAAGAGTCAGCCCCGGACAGCACAGAATTCACAGAGGCTTTGCGTTCTCCTCCAGCCGCCTGTGCGGGAGAAATGGGAGCAAGCCCCGGTCTCCTGATACCAGAGCAGCCGCCGCCCAGCAGACATGACACCGGCACCCCCAAGCCGTCGGGAAGCCTCGCCAACACGGCGCCCCACGGAAGCTCGCCAACGCCAGGTGTGGGCAGCCTGCTGGGTGGTCCTGGGGGCACACAGGCCCCAGTCTCCCACAACAGCAAGGACCCCCCTGCCCGCCAGCCTGGAGAATTTCTGGCACCCGTGGCTAACCCCTCAAGTACCGCCTGCCCCAAACCCAGTGTTCTGTCTTCAAAGATCTCCAGTTTTGGCTGTGACCCTGCTGGTTTTAACAGAGACCCCTTGGGGGTTCCAGTTGCCAAAAAGGGGCCTCAGCCCTACAGCAGCCCCCACAGTGAGTTGTTCCTCGGACCCAAAGACCTGGCTGGCTGTTTCCTGGAAGAACTGCACCCCAAGCCCTCAGCCAGGGATGCCCCGCCGGCCAGCAGCTCCTGCCTTTGCCAGGACGGCGAGGATGCCGGTTCCCTCGAGCCACAGCTGCCAAGGAGCCCACCTGGCACCGCTGAGACGGAGCCAGGCAGGGCTGCATCGCCACCGACCTTGGAGTCCTCATCCCTCTTCCCAGACCTGCCGGTGGACAGATTCGACCCACCCCTCTATGGCAGCCTGTCTGCGAACAGGGACTCCGGTCTGCCGTTCGCATGTGCCGACCCTCCCCAGAAGACGGTGCCGTCAGATCCACCGTACCCCTCTTTTTTGCTGCTTGAGGAAGTATCCCCGATGCTGCCTAGCCATTTTCCTGATCTCTCGGGGGGAAAGGTGCTCAGTAAGACGTGTCCCCCTGAACGGACAGTGGTTCCCGGCGCCGCCCCATCTTTGCCTGGGAAGGGGAGTGGATGTAGCGTTGCTCTTATGAGTCACCTGTCCGAGGATGAACTGGAGATCCAGAAATTGGTCACCGAATTAGAAAGTCAGCTGCAAAGGAGCAAAGACACACGTGGGGCCCCGAGAGAGCTTGCAGAAGCTGAGTCGGTGGGCAGGGTGGAGCTCGGCACAGGCACAGAGCCACCCTCCCAACGGCGCACCTGCCAGGCCACCGTGCCCCACGAGGACACGTTCTCGGCAGCTGACCTCACGCGCGTTGGAGAATCCACTGCACATCGGGAGGGTGCGGAATCGGCTGTGGCCACCGTGGAAGCGGTTCAGGGGAGGCCTGGGGGGACGTGGCCCTGCCCAGCCTCCTTCCATCCGGGACATGCAGCCCTTCTCCCCTGTGCCCAGGAAGACCTGGTTTCTGGGGCTCCTTTCAGCCCCAGGGGAGCCAACTTCCATTTTCAGCCAGTGCAGAAAGCCGGAGCCTCCAAGACTGGACTTTGCCAGGCAGAAGGAGACAGCAGGCCCCCCCAAGATGTCTGCCTGCCTGAGCCCAGCAAGCAGCCTGGCCCACAGCTGGATGCCGGGAGTTTAGCAAAGTGCAGCCCCGACCAGGAACTTTCATTTCCTAAGAATAAGGAGGCCGCCAGCTCACAAGAAAGTGAAGACTCCCTGCGGCTGCTTCCCTGTGAACAGAGAGGAGGGTTCCTCCCAGAGCCCGGCACAGCAGACCAGCCCCACCGAGGGGCCCCTGCTCCAGAAGCTTTTGGCAGCCCTGCTGTCCATCTGGCCCCTGACTTGGCATTTCAGGGTGACGGGGCTCCACCTCTGGATGCCACCTGGCCTTTTGGTGCCAGTCCCAGCCATGCTGCCCAGGGACATTCTGCAGGCAGAGCAGGTGGGCACCTCCACCCCACGGCAGGGAGGCCTGGCTTTGAGGGTAATGAGTTTGCACCGGCGGGGGCCTCCTCACTGACTGCCCCCCGGGGCAGGGAGGCTTGGTTGGTCCCTGTGCCAAGTCCCGCCTGTGTATCCAACACCCACCCTAGCAGGAGGTCCCAGGACCCAGCTTTGAGCCCCCCCATACGTCAGCTCCAGCTCCCAGGGCCTGGAGTGGCTAAGAGTAAAGATGGCATCCTGGGCTTGCAGGAGCTGACACCTGCTGCCCAGAGCCCTCCACGAGTGAACCCCTCAGGTCTGGAAGGGGGCACTGTGGAAGGAGGGAAGGTGGCCTGTGGCCCCGCCCAGGGCTCCCCAGGGGGTGTGCAGGTGACAACTCTCCCTGCAGTGGCCGGACATCAGCTGGGGCTGGAGGCAGATGGACATTGGGGCTTGCTTGGCCAAGCCGAGAAAACCCAGGGCCAAGGCACAGCCAACCAGCTTCAGCCAGAGAACGGGGTGAGCCCAGGGGGCACGGACAACCACGCCTCAGTCAATGCCAGTCCCAAAACAGCGCTGACCGGCCCCACCGAGGGTGCAGTCCTGCTAGAGAAATGCAAGGGAAGCAGGGCAGCCATGAGCCTTCAGGAGGAGGCCGAGCCCACCCCAAGCCCCCCGTCCCCTAATAGGGAGTCCCTGGCGCTGGCCTTGACAGCAGCCCACAGCCGAAGTGGATCTGAGGGCCGGACTCCAGAGAGGGCGTCCAGCCCCGGCCTGAACAAGCCACTGCTGGCCACAGGGGATAGCCCAGCACCCTCTGTCGGGGACCTGGCCGCCTGCGCCCCCTCACCCACTTCAGCCGCCCACATGCCCTGCAGCCTTGGGCCCCTGCCCCGTGAAGACCCACTTACCTCGCCTTCCAGGGCCCAAGGTGGGCTGGGGGGGCAGCTGCCAGCATCTCCGTCCTGCAGGGACCCTCCCGGCCCCCAGCAGCTGCTGGCCTGTTCTCCTGCCTGGGCACCTCTGGAAGAGGCAGATGGCGTCCAAGCCACGACAGATACTGGGGCTGAGGATTCCCCGGTGGCTCCCCCGTCTTTGACAACAAGCCCCTGCGATCCCAAGGAAGCCCTGGCTGGTTGCCTTCTCCAGGGGGAGGGCAGCCCCCTGGAAGACCCTTCCTCCTGGCCTCCTGGCTCCGTCAGTGCTGTAACCTGCACTCACAGTGGGGACACCCCCAAAGACAGCACTTTAAGAATTCCAGAGGATTCCAGAAAAGAGAAGCTGTGGGAGTCTCCTGGCCGAGCCACCTCTCCTCCTCTGGCAGGGGCCGTCTCCCCCAGCGTGGCCGTCAGGGCTACTGGCCTGTCCAGCACTCCCACCGGAGATGAGGCACAGGCAGGCAGGGGACTCCCAGGGCCAGACCCCCAGAGCAGGGGAGCCCCGCCCCACACCAACCCTGACAGGATGCCCAGGGGCCACTCCTCGTATTCTCCAAGCAATACTGCCCGCCTCGGCCACAGGGAGGGCCAGGCTGTCACAGCTGTGCCCACTGAGCCTCCCACGCTACAGGGTGCAGGGCCGGACTCCCCCGCCTGCCTGGAAGGTGAGATGGGGACCAGCAGCAAGGAGCCGGAGGACCCAGGGACCCCTGAGACCGGGCGCTCTGGTGCTACCAAGATGCCCAGGGTCACCTGCCCTTCCACAGGACTGGGCTTGGGAAGAACCACAGCCCCAAGCAGCACAGCCAGTGACTTCCAGTCTGACTCCCCCCAAAGCCACAGAAATGCCTCCCACCAGACTCCCCAGGGGGACCCCCTCGGCCCCCAAGACCTCAAACAGAGGTCCCGTGGCTATAAAAAGAAGCCTGCATCTACAGAGAACGGCCAGTGGAAGGGCCAAGCTCCACATGGGCCTGTGACCTGTGAGGTCTGCGCAGCCTCCTTCCGCTCCGGGCCGGGCCTGAGCCGGCACAAGGCCAGGAAGCACCGGCCACACCCGGGAGCCCCCGCGGAGCCGAGCCCAGCGGCCTTGCCTGCTCAGCAGCCTCTAGAGCCCCTAGCCCAAAAGTGCCAGCCGCCCAGGAAGAAAAGCCACAGGGTGTCTGGGAAGGAGAGACCAAATCACTCACGGGGAGACCCCAGCCACGTCACCCAGCCACCGCCTGCCCAGGGCTCAAAGGAGGTTCTCAGAGCACCGGGGTCCCCACACAGCCAGCAGCTGCACCCTCCA
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CTCAGAGGAAACCCGCCCGTCGCTGGACTTTCCCCAGGAGGCCAAGGAGCCTGAAACTGCCGAAGAGTCAGCCCCGGACAGCACAGAATTCACAGAGGCTTTGCGTTCTCCTCCAGCCGCCTGTGCGGGAGAAATGGGAGCAAGCCCCGGTCTCCTGATACCAGAGCAGCCGCCGCCCAGCAGACATGACACCGGCACCCCCAAGCCGTCGGGAAGCCTCGCCAACACGGCGCCCCACGGAAGCTCGCCAACGCCAGGTGTGGGCAGCCTGCTGGGTGGTCCTGGGGGCACACAGGCCCCAGTCTCCCACAACAGCAAGGACCCCCCTGCCCGCCAGCCTGGAGAATTTCTGGCACCCGTGGCTAACCCCTCAAGTACCGCCTGCCCCAAACCCAGTGTTCTGTCTTCAAAGATCTCCAGTTTTGGCTGTGACCCTGCTGGTTTTAACAGAGACCCCTTGGGGGTTCCAGTTGCCAAAAAGGGGCCTCAGCCCTACAGCAGCCCCCACAGTGAGTTGTTCCTCGGACCCAAAGACCTGGCTGGCTGTTTCCTGGAAGAACTGCACCCCAAGCCCTCAGCCAGGGATGCCCCGCCGGCCAGCAGCTCCTGCCTTTGCCAGGACGGCGAGGATGCCGGTTCCCTCGAGCCACAGCTGCCAAGGAGCCCACCTGGCACCGCTGAGACGGAGCCAGGCAGGGCTGCATCGCCACCGACCTTGGAGTCCTCATCCCTCTTCCCAGACCTGCCGGTGGACAGATTCGACCCACCCCTCTATGGCAGCCTGTCTGCGAACAGGGACTCCGGTCTGCCGTTCGCATGTGCCGACCCTCCCCAGAAGACGGTGCCGTCAGATCCACCGTACCCCTCTTTTTTGCTGCTTGAGGAAGTATCCCCGATGCTGCCTAGCCATTTTCCTGATCTCTCGGGGGGAAAGGTGCTCAGTAAGACGTGTCCCCCTGAACGGACAGTGGTTCCCGGCGCCGCCCCATCTTTGCCTGGGAAGGGGAGTGGATGTAGCGTTGCTCTTATGAGTCACCTGTCCGAGGATGAACTGGAGATCCAGAAATTGGTCACCGAATTAGAAAGTCAGCTGCAAAGGAGCAAAGACACACGTGGGGCCCCGAGAGAGCTTGCAGAAGCTGAGTCGGTGGGCAGGGTGGAGCTCGGCACAGGCACAGAGCCACCCTCCCAACGGCGCACCTGCCAGGCCACCGTGCCCCACGAGGACACGTTCTCGGCAGCTGACCTCACGCGCGTTGGAGAATCCACTGCACATCGGGAGGGTGCGGAATCGGCTGTGGCCACCGTGGAAGCGGTTCAGGGGAGGCCTGGGGGGACGTGGCCCTGCCCAGCCTCCTTCCATCCGGGACATGCAGCCCTTCTCCCCTGTGCCCAGGAAGACCTGGTTTCTGGGGCTCCTTTCAGCCCCAGGGGAGCCAACTTCCATTTTCAGCCAGTGCAGAAAGCCGGAGCCTCCAAGACTGGACTTTGCCAGGCAGAAGGAGACAGCAGGCCCCCCCAAGATGTCTGCCTGCCTGAGCCCAGCAAGCAGCCTGGCCCACAGCTGGATGCCGGGAGTTTAGCAAAGTGCAGCCCCGACCAGGAACTTTCATTTCCTAAGAATAAGGAGGCCGCCAGCTCACAAGAAAGTGAAGACTCCCTGCGGCTGCTTCCCTGTGAACAGAGAGGAGGGTTCCTCCCAGAGCCCGGCACAGCAGACCAGCCCCACCGAGGGGCCCCTGCTCCAGAAGCTTTTGGCAGCCCTGCTGTCCATCTGGCCCCTGACTTGGCATTTCAGGGTGACGGGGCTCCACCTCTGGATGCCACCTGGCCTTTTGGTGCCAGTCCCAGCCATGCTGCCCAGGGACATTCTGCAGGCAGAGCAGGTGGGCACCTCCACCCCACGGCAGGGAGGCCTGGCTTTGAGGGTAATGAGTTTGCACCGGCGGGGGCCTCCTCACTGACTGCCCCCCGGGGCAGGGAGGCTTGGTTGGTCCCTGTGCCAAGTCCCGCCTGTGTATCCAACACCCACCCTAGCAGGAGGTCCCTGGACCCAGCTTTGAGCCCCCCCATACGTCAGCTCCAGCTCCCAGGGCCTGGAGTGGCTAAGAGTAAAGATGGCATCCTGGGCTTGCAGGAGCTGACACCTGCTGCCCAGAGCCCTCCACGAGTGAACCCCTCAGGTCTGGAAGGGGGCACTGTGGAAGGAGGGAAGGTGGCCTGTGGCCCCGCCCAGGGCTCCCCAGGGGGTGTGCAGGTGACAACTCTCCCTGCAGTGGCCGGACATCAGCTGGGGCTGGAGGCAGATGGACATTGGGGCTTGCTTGGCCAAGCCGAGAAAACCCAGGGCCAAGGCACAGCCAACCAGCTTCAGCCAGAGAACGGGGTGAGCCCAGGGGGCACGGACAACCACGCCTCAGTCAATGCCAGTCCCAAAACAGCGCTGACCGGCCCCACCGAGGGTGCAGTCCTGCTAGAGAAATGCAAGGGAAGCAGGGCAGCCATGAGCCTTCAGGAGGAGGCCGAGCCCACCCCAAGCCCCCCGTCCCCTAATAGGGAGTCCCTGGCGCTGGCCTTGACAGCAGCCCACAGCCGAAGTGGATCTGAGGGCCGGACTCCAGAGAGGGCGTCCAGCCCCGGCCTGAACAAGCCACTGCTGGCCACAGGGGATAGCCCAGCACCCTCTGTCGGGGACCTGGCCGCCTGCGCCCCCTCACCCACTTCAGCCGCCCACATGCCCTGCAGCCTTGGGCCCCTGCCCCGTGAAGACCCACTTACCTCGCCTTCCAGGGCCCAAGGTGGGCTGGGGGGGCAGCTGCCAGCATCTCCGTCCTGCAGGGACCCTCCCGGCCCCCAGCAGCTGCTGGCCTGTTCTCCTGCCTGGGCACCTCTGGAAGAGGCAGATGGCGTCCAAGCCACGACAGATACTGGGGCTGAGGATTCCCCGGTGGCTCCCCCGTCTTTGACAACAAGCCCCTGCGATCCCAAGGAAGCCCTGGCTGGTTGCCTTCTCCAGGGGGAGGGCAGCCCCCTGGAAGACCCTTCCTCCTGGCCTCCTGGCTCCGTCAGTGCTGTAACCTGCACTCACAGTGGGGACACCCCCAAAGACAGCACTTTAAGAATTCCAGAGGATTCCAGAAAAGAGAAGCTGTGGGAGTCTCCTGGCCGAGCCACCTCTCCTCCTCTGGCAGGGGCCGTCTCCCCCAGCGTGGCCGTCAGGGCTACTGGCCTGTCCAGCACTCCCACCGGAGATGAGGCACAGGCAGGCAGGGGACTCCCAGGGCCAGACCCCCAGAGCAGGGGAGCCCCGCCCCACACCAACCCTGACAGGATGCCCAGGGGCCACTCCTCGTATTCTCCAAGCAATACTGCCCGCCTCGGCCACAGGGAGGGCCAGGCTGTCACAGCTGTGCCCACTGAGCCTCCCACGCTACAGGGTGCAGGGCCGGACTCCCCCGCCTGCCTGGAAGGTGAGATGGGGACCAGCAGCAAGGAGCCGGAGGACCCAGGGACCCCTGAGACCGGGCGCTCTGGTGCTACCAAGATGCCCAGGGTCACCTGCCCTTCCACAGGACTGGGCTTGGGAAGAACCACAGCCCCAAGCAGCACAGCCAGTGACTTCCAGTCTGACTCCCCCCAAAGCCACAGAAATGCCTCCCACCAGACTCCCCAGGGGGACCCCCTCGGCCCCCAAGACCTCAAACAGAGGTCCCGTGGCTATAAAAAGAAGCCTGCATCTACAGAGAACGGCCAGTGGAAGGGCCAAGCTCCACATGGGCCTGTGACCTGTGAGGTCTGCGCAGCCTCCTTCCGCTCCGGGCCGGGCCTGAGCCGGCACAAGGCCAGGAAGCACCGGCCACACCCGGGAGCCCCCGCGGAGCCGAGCCCAGCGGCCTTGCCTGCTCAGCAGCCTCTAGAGCCCCTAGCCCAAAAGTGCCAGCCGCCCAGGAAGAAAAGCCACAGGGTGTCTGGGAAGGAGAGACCAAATCACTCACGGGGAGACCCCAGCCACGTCACCCAGCCACCGCCTGCCCAGGGCTCAAAGGAGGTTCTCAGAGCACCGGGGTCCCCACACAGCCAGCAGCTGCACCCTCCA
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Task1_train_22991
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A variant affecting Chromosome 16, within the gene LOC130059719, ZNF469 (ATAC-STARR-seq lymphoblastoid silent region 7848| zinc finger protein 469), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Brittle cornea syndrome 1
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GCCTGAGGCTGACGGGGAGCAGCCGCCTCGCTTGGCCACTCTGGGACCTGGGGTGATGGAGGGTGCAGCGGAGACTGACCAGGAGGCTCTGTGTGCAGGGGAGACTGGGGCCCAGAAGCCACCTGGAGATCGGATGCTGTGTCCAGGGAGGATGGATGGTGCAGCTCTGGGGGAACAGCCAACTGGGCAGAAGGGAGCCTCGGCAAGGGGGTTCTGGGGACCAAGAGAGACCAAGGCGTTGGGTGTGTGCAAAGAGTCTGGGAGCGAGCCTGCGGAGGACAGCAGCAGGGCCCACAGCCGATCAGAGGAAGGTGTCTGGGAGGAGAACACGCCCCCCTTGGGCCCCCTGGGTTTTCCCGAGACTTCCAGCTCTCCGGCGGACAGCACCACCAGCAGCTGCCTCCAGGGCCTCCCGGACAACCCAGACACCCAGGGTGGAGTCCAGGGGCCTGAAGGCCCCACTCCTGATGCCTCTGGCTCCAGTGCCAAGGATCCTCCAAGCTTGTTTGATGATGAGGTCTCTTTCTCCCAGCTCTTCCCTCCAGGCGGTCGCTTGACTAGAAAGAGGAACCCGCATGTCTACGGGAAGCGCTGTGAGAAGCCGGTGCTCCCGCTGCCAACCCAGCCCAGCTTTGAGGAGGGCGGTGACCCCACGCTGGGCCCAGCCCGCCTGCCCACGGACCTCAGCGACTCCAGCTCCCTCTGCCTCTGCCATGAGGACCCGTGGGAGGACGAGGATCCCGCAGGTCTGCCCGAGTCCTTCCTCCTGGATGGGTTCCTCAATAGCAGGGTGCCTGGCATTGACCCCTGGGCCCCCGGCCTCAGCCTGTGGGCCCTGGAGCCCAGCAGGGAAGCTGGTGCAGAGAAGCTGCCCTCCCACTGCCCCGAGGACGATCGGCCGGAGGCCATTCCTGAGCTGCACATGGTCCCAGCGGCTTGGCGAGGCCTGGAGATGCCGGCCCCTGCCGATGACTCCTCCTCTTCTCTCGGAGATGTGAGCCCCGAGCCCCCCAGCCTGGAGAGAGAACGCTGTGACGGTGGGCTTCCCGGGAACACCCACCTGCTGCCGCTCCGTGCCACGGACTTTGAGGTGCTCAGCACCAAGTTTGAGATGCAAGACCTGTGCTTTCTGGGACCCTTTGAAGACCCCGTGGGTCTCCCCGGCCCCAGCTTCTTAGACTTCGAGGGCACGGCGAGCTCACAGGGGCCACAGAGCCGAAGGACAGAGGAGGCTGCAGGGGCAGGGAGGGCCCAAGGCAGAGGCCGGCCGGCCAAGGGCAGGCGGGCCTCCTACAAGTGCAAAGTGTGCTTCCAGCGCTTCCGCAGCCTGGGCGAGCTGGACCTGCACAAGCTGGCCCACACGCCCGCGCCGCCGCCCACCTGCTACATGTGCGTGGAGCGCAGGTTTGGCTCGCGGGAGCTGCTGCGGGGGCACCTGCAGGAGAGGCACGCGCAGAGCAAGGCCGGGCCCTGGGCGTGCGGCATGTGCCTGAAGGAGGTGGCCGACGTCTGGATGTACAACGAGCACCTGCGTGAGCACGCGGTCCGCTTCGCCCGCAGGGGGCAGGCGCGGAGGTCCTTGGGGGACCTGCCCGGAGGCCTGGAGGGCAGCAGCGCTGTCGCCCACCTTCTGAACAGCATCACGGAACCCGCGCCCAAACACCACAGGGGCAAGCGCTCCGCCGGCAAGGCCGCCGGGAGCCCGGGAGACCCGTGGGGGCAAGAGGGAGAAGCCAAGAAAGACAGCCCGGGCGAGAGGGCGAAACCCCGGGCACGCAGCACCCCCAGCAACCCAGACGGGGCCGCGACCCCAGACAGCGCCTCTGCCACCGCCCTGGCTGACGCCGGCAGCCCGGGCCCCCCCAGGACGACCCCCAGCCCGTCCCCCGACCCCTGGGCCGGCGGGGAGCCCCTCCTGCAAGCCACCCCGGTGCACGAGGCCTGCAAGGACCCCTCCCGCGACTGCCACCACTGCGGGAAGCGCTTCCCCAAGCCCTTCAAGCTGCAGCGCCACCTGGCGGTGCACAGCCCGCAGCGCGTCTACCTGTGCCCCCGGTGCCCCCGGGTCTACCCCGAGCACGGGGAGCTGCTGGCACACCTGGGCGGGGCGCACGGGCTGCTGGAGCGGCCGGAGCTGCAGCACACGCCGCTGTATGCCTGCGAGCTCTGCGCCACGGTTATGCGCATCATCAAGAAGTCCTTCGCCTGCAGCTCCTGCAACTACACCTTCGCCAAGAAGGAGCAGTTCGACCGCCACATGAACAAGCACCTCAGGGGGGGGCGGCAGCCCTTCGCGTTCCGCGGCGTGCGGAGGCCGGGAGCGCCGGGACAGAAGGCCCGGGCCCTCGAGGGCACACTGCCCAGCAAACGGCGCAGGGTGGCCATGCCCGGCAGTGCCCCTGGGCCCGGCGAGGACAGGCCTCCTCCCCGGGGAAGCAGCCCCATCCTGAGTGAGGGCTCTCTCCCGGCCCTGCTCCACCTGTGTTCGGAGGTGGCTCCCAGCACCACCAAGGGATGGCCCGAGACCCTAGAGAGGCCTGTAGACCCCGTGACCCACCCGATCAGAGGTTGTGAGCTGCCATCCAACCACCAGGAGTGTCCCCCGCCGTCTCTGTCTCCCTTCCCAGCTGCCTTGGCTGATGGCAGAGGAGACTGCGCGCTGGACGGAGCCCTGGAGAGGCCAGAGAACGAGGCTTCCCCAGGCAGCCCCGGGCCTCTTCTCCAGCAAGCTCTCCCTCTGGGGGCATCTCTGCCGCGGCCGGGAGCCAGAGGCCAAGATGCGGAGGGAAAGAGGGCTCCTCTCGTGTTCTCAGGGAAACGCAGGGCCCCGGGTGCCCGTGGCAGGTGTGCCCCTGACCATTTCCAGGAAGACCACCTACTTCAGAAAGAGAAGGAGGTGTCCTCAAGCCACATGGTGTCTGAGGGGGGGCCCCGAGGCGCCTTCCACAAGGGCAGCGCCACCAAGCCTGCGGGCTGCCAGAGCTCATCAAAGGACAGGTCGGCAGCATCCACCCCCAGCAAAGCACTCAAGTTCCCAGTGCACCCAAGGAAGGCGGTGGGGAGCCTGGCACCCGGGGAGCTGGCCCGTGGCACAGAGAATGGGATGAAGCCCGCCACCCCCAAAGCCAAACCCGGCCCCAGCTCCCAGGGCAGTGGAAGCCCTCGCCCCGGCACCAAGACAGGAGGTGGCAGCCAGCCCCAGCCAGCCAGCGGGCAGCTCCAGAGCGAGACAGCCACCACCCCAGCCAAGCCCAGCTTCCCCAGCCGGAGCCCTGCACCAGAGAGGCTCCCCGCTCGAGCCCAAGCCAAGAGCTGCACCAAGGGGCCAAGGGAAGCTGGTGAGCAGGGGCCCCACGGGAGCCTAGGTCCCAAGGAGAAGGGAGAGAGCAGTACGAAGAGGAAAAAGGGCCAGGTCCCAGGGCCAGCCAGGAGTGAAAGTGTGGGGAGCTTCGGGAGAGCCCCCTCAGCCCCTGACAAGCCCCCCCGGACCCCTCGGAAGCAGGCAACTCCCAGCCGCGTGCTCCCGACCAAGCCCAAGCCCAACAGCCAGAACAAACCCAGGCCGCCACCATCAGAGCAGCGGAAGGCAGAGCCGGGCCACACACAGAGGAAGGACAGACTGGGCAAGGCCTTCCCCCAGGGGAGACCCCTGCTCAGGCCCCCCAAGAGGGGCACAGCTGTCCACGGTGCTGAACCTGCCGAGCCACACACCCACCGGACGGCCGAGGCCCAGAGTGACCTCCTCAGCCAGCTCTTCGGGCAGAGACTAACTGGCTTCAAAATCCCTTTAAAGAAAGATGCTTCCGAGTAATTTCTAGGAGCAAGAGCCTGGGACCGGAGCTGGGCGTTCCTGTCTCGGCCTGCCTCCTTGGCCAGCTCCGGCTCCCTGAGATGGTCCACTCTGTGGCCACTTGACTTCTTGTGCAACTGCTCAGGCCTTGATGTCAGAGCTGAGGTGGTGATGCTTTGAACAGGGCCCAGGTGGGCAGCATTCCCTTTCTTGCTGGAAGGCTGGGGGTGAAAGACGGGGCCACTGCAGCCCTTTTGAGACCACACAGCTGTTTTCTTGGTACCAAGTACTTGAAGAGACAGCAGC
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GCCTGAGGCTGACGGGGAGCAGCCGCCTCGCTTGGCCACTCTGGGACCTGGGGTGATGGAGGGTGCAGCGGAGACTGACCAGGAGGCTCTGTGTGCAGGGGAGACTGGGGCCCAGAAGCCACCTGGAGATCGGATGCTGTGTCCAGGGAGGATGGATGGTGCAGCTCTGGGGGAACAGCCAACTGGGCAGAAGGGAGCCTCGGCAAGGGGGTTCTGGGGACCAAGAGAGACCAAGGCGTTGGGTGTGTGCAAAGAGTCTGGGAGCGAGCCTGCGGAGGACAGCAGCAGGGCCCACAGCCGATCAGAGGAAGGTGTCTGGGAGGAGAACACGCCCCCCTTGGGCCCCCTGGGTTTTCCCGAGACTTCCAGCTCTCCGGCGGACAGCACCACCAGCAGCTGCCTCCAGGGCCTCCCGGACAACCCAGACACCCAGGGTGGAGTCCAGGGGCCTGAAGGCCCCACTCCTGATGCCTCTGGCTCCAGTGCCAAGGATCCTCCAAGCTTGTTTGATGATGAGGTCTCTTTCTCCCAGCTCTTCCCTCCAGGCGGTCGCTTGACTAGAAAGAGGAACCCGCATGTCTACGGGAAGCGCTGTGAGAAGCCGGTGCTCCCGCTGCCAACCCAGCCCAGCTTTGAGGAGGGCGGTGACCCCACGCTGGGCCCAGCCCGCCTGCCCACGGACCTCAGCGACTCCAGCTCCCTCTGCCTCTGCCATGAGGACCCGTGGGAGGACGAGGATCCCGCAGGTCTGCCCGAGTCCTTCCTCCTGGATGGGTTCCTCAATAGCAGGGTGCCTGGCATTGACCCCTGGGCCCCCGGCCTCAGCCTGTGGGCCCTGGAGCCCAGCAGGGAAGCTGGTGCAGAGAAGCTGCCCTCCCACTGCCCCGAGGACGATCGGCCGGAGGCCATTCCTGAGCTGCACATGGTCCCAGCGGCTTGGCGAGGCCTGGAGATGCCGGCCCCTGCCGATGACTCCTCCTCTTCTCTCGGAGATGTGAGCCCCGAGCCCCCCAGCCTGGAGAGAGAACGCTGTGACGGTGGGCTTCCCGGGAACACCCACCTGCTGCCGCTCCGTGCCACGGACTTTGAGGTGCTCAGCACCAAGTTTGAGATGCAAGACCTGTGCTTTCTGGGACCCTTTGAAGACCCCGTGGGTCTCCCCGGCCCCAGCTTCTTAGACTTCGAGGGCACGGCGAGCTCACAGGGGCCACAGAGCCGAAGGACAGAGGAGGCTGCAGGGGCAGGGAGGGCCCAAGGCAGAGGCCGGCCGGCCAAGGGCAGGCGGGCCTCCTACAAGTGCAAAGTGTGCTTCCAGCGCTTCCGCAGCCTGGGCGAGCTGGACCTGCACAAGCTGGCCCACACGCCCGCGCCGCCGCCCACCTGCTACATGTGCGTGGAGCGCAGGTTTGGCTCGCGGGAGCTGCTGCGGGGGCACCTGCAGGAGAGGCACGCGCAGAGCAAGGCCGGGCCCTGGGCGTGCGGCATGTGCCTGAAGGAGGTGGCCGACGTCTGGATGTACAACGAGCACCTGCGTGAGCACGCGGTCCGCTTCGCCCGCAGGGGGCAGGCGCGGAGGTCCTTGGGGGACCTGCCCGGAGGCCTGGAGGGCAGCAGCGCTGTCGCCCACCTTCTGAACAGCATCACGGAACCCGCGCCCAAACACCACAGGGGCAAGCGCTCCGCCGGCAAGGCCGCCGGGAGCCCGGGAGACCCGTGGGGGCAAGAGGGAGAAGCCAAGAAAGACAGCCCGGGCGAGAGGGCGAAACCCCGGGCACGCAGCACCCCCAGCAACCCAGACGGGGCCGCGACCCCAGACAGCGCCTCTGCCACCGCCCTGGCTGACGCCGGCAGCCCGGGCCCCCCCAGGACGACCCCCAGCCCGTCCCCCGACCCCTGGGCCGGCGGGGAGCCCCTCCTGCAAGCCACCCCGGTGCACGAGGCCTGCAAGGACCCCTCCCGCGACTGCCACCACTGCGGGAAGCGCTTCCCCAAGCCCTTCAAGCTGCAGCGCCACCTGGCGGTGCACAGCCCGCAGCGCGTCTACCTGTACCCCCGGTGCCCCCGGGTCTACCCCGAGCACGGGGAGCTGCTGGCACACCTGGGCGGGGCGCACGGGCTGCTGGAGCGGCCGGAGCTGCAGCACACGCCGCTGTATGCCTGCGAGCTCTGCGCCACGGTTATGCGCATCATCAAGAAGTCCTTCGCCTGCAGCTCCTGCAACTACACCTTCGCCAAGAAGGAGCAGTTCGACCGCCACATGAACAAGCACCTCAGGGGGGGGCGGCAGCCCTTCGCGTTCCGCGGCGTGCGGAGGCCGGGAGCGCCGGGACAGAAGGCCCGGGCCCTCGAGGGCACACTGCCCAGCAAACGGCGCAGGGTGGCCATGCCCGGCAGTGCCCCTGGGCCCGGCGAGGACAGGCCTCCTCCCCGGGGAAGCAGCCCCATCCTGAGTGAGGGCTCTCTCCCGGCCCTGCTCCACCTGTGTTCGGAGGTGGCTCCCAGCACCACCAAGGGATGGCCCGAGACCCTAGAGAGGCCTGTAGACCCCGTGACCCACCCGATCAGAGGTTGTGAGCTGCCATCCAACCACCAGGAGTGTCCCCCGCCGTCTCTGTCTCCCTTCCCAGCTGCCTTGGCTGATGGCAGAGGAGACTGCGCGCTGGACGGAGCCCTGGAGAGGCCAGAGAACGAGGCTTCCCCAGGCAGCCCCGGGCCTCTTCTCCAGCAAGCTCTCCCTCTGGGGGCATCTCTGCCGCGGCCGGGAGCCAGAGGCCAAGATGCGGAGGGAAAGAGGGCTCCTCTCGTGTTCTCAGGGAAACGCAGGGCCCCGGGTGCCCGTGGCAGGTGTGCCCCTGACCATTTCCAGGAAGACCACCTACTTCAGAAAGAGAAGGAGGTGTCCTCAAGCCACATGGTGTCTGAGGGGGGGCCCCGAGGCGCCTTCCACAAGGGCAGCGCCACCAAGCCTGCGGGCTGCCAGAGCTCATCAAAGGACAGGTCGGCAGCATCCACCCCCAGCAAAGCACTCAAGTTCCCAGTGCACCCAAGGAAGGCGGTGGGGAGCCTGGCACCCGGGGAGCTGGCCCGTGGCACAGAGAATGGGATGAAGCCCGCCACCCCCAAAGCCAAACCCGGCCCCAGCTCCCAGGGCAGTGGAAGCCCTCGCCCCGGCACCAAGACAGGAGGTGGCAGCCAGCCCCAGCCAGCCAGCGGGCAGCTCCAGAGCGAGACAGCCACCACCCCAGCCAAGCCCAGCTTCCCCAGCCGGAGCCCTGCACCAGAGAGGCTCCCCGCTCGAGCCCAAGCCAAGAGCTGCACCAAGGGGCCAAGGGAAGCTGGTGAGCAGGGGCCCCACGGGAGCCTAGGTCCCAAGGAGAAGGGAGAGAGCAGTACGAAGAGGAAAAAGGGCCAGGTCCCAGGGCCAGCCAGGAGTGAAAGTGTGGGGAGCTTCGGGAGAGCCCCCTCAGCCCCTGACAAGCCCCCCCGGACCCCTCGGAAGCAGGCAACTCCCAGCCGCGTGCTCCCGACCAAGCCCAAGCCCAACAGCCAGAACAAACCCAGGCCGCCACCATCAGAGCAGCGGAAGGCAGAGCCGGGCCACACACAGAGGAAGGACAGACTGGGCAAGGCCTTCCCCCAGGGGAGACCCCTGCTCAGGCCCCCCAAGAGGGGCACAGCTGTCCACGGTGCTGAACCTGCCGAGCCACACACCCACCGGACGGCCGAGGCCCAGAGTGACCTCCTCAGCCAGCTCTTCGGGCAGAGACTAACTGGCTTCAAAATCCCTTTAAAGAAAGATGCTTCCGAGTAATTTCTAGGAGCAAGAGCCTGGGACCGGAGCTGGGCGTTCCTGTCTCGGCCTGCCTCCTTGGCCAGCTCCGGCTCCCTGAGATGGTCCACTCTGTGGCCACTTGACTTCTTGTGCAACTGCTCAGGCCTTGATGTCAGAGCTGAGGTGGTGATGCTTTGAACAGGGCCCAGGTGGGCAGCATTCCCTTTCTTGCTGGAAGGCTGGGGGTGAAAGACGGGGCCACTGCAGCCCTTTTGAGACCACACAGCTGTTTTCTTGGTACCAAGTACTTGAAGAGACAGCAGC
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Task1_train_22992
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Located on Chromosome 16, this mutation impacts ZNF469 (zinc finger protein 469). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; not specified
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CCTGGAGGGCAGCAGCGCTGTCGCCCACCTTCTGAACAGCATCACGGAACCCGCGCCCAAACACCACAGGGGCAAGCGCTCCGCCGGCAAGGCCGCCGGGAGCCCGGGAGACCCGTGGGGGCAAGAGGGAGAAGCCAAGAAAGACAGCCCGGGCGAGAGGGCGAAACCCCGGGCACGCAGCACCCCCAGCAACCCAGACGGGGCCGCGACCCCAGACAGCGCCTCTGCCACCGCCCTGGCTGACGCCGGCAGCCCGGGCCCCCCCAGGACGACCCCCAGCCCGTCCCCCGACCCCTGGGCCGGCGGGGAGCCCCTCCTGCAAGCCACCCCGGTGCACGAGGCCTGCAAGGACCCCTCCCGCGACTGCCACCACTGCGGGAAGCGCTTCCCCAAGCCCTTCAAGCTGCAGCGCCACCTGGCGGTGCACAGCCCGCAGCGCGTCTACCTGTGCCCCCGGTGCCCCCGGGTCTACCCCGAGCACGGGGAGCTGCTGGCACACCTGGGCGGGGCGCACGGGCTGCTGGAGCGGCCGGAGCTGCAGCACACGCCGCTGTATGCCTGCGAGCTCTGCGCCACGGTTATGCGCATCATCAAGAAGTCCTTCGCCTGCAGCTCCTGCAACTACACCTTCGCCAAGAAGGAGCAGTTCGACCGCCACATGAACAAGCACCTCAGGGGGGGGCGGCAGCCCTTCGCGTTCCGCGGCGTGCGGAGGCCGGGAGCGCCGGGACAGAAGGCCCGGGCCCTCGAGGGCACACTGCCCAGCAAACGGCGCAGGGTGGCCATGCCCGGCAGTGCCCCTGGGCCCGGCGAGGACAGGCCTCCTCCCCGGGGAAGCAGCCCCATCCTGAGTGAGGGCTCTCTCCCGGCCCTGCTCCACCTGTGTTCGGAGGTGGCTCCCAGCACCACCAAGGGATGGCCCGAGACCCTAGAGAGGCCTGTAGACCCCGTGACCCACCCGATCAGAGGTTGTGAGCTGCCATCCAACCACCAGGAGTGTCCCCCGCCGTCTCTGTCTCCCTTCCCAGCTGCCTTGGCTGATGGCAGAGGAGACTGCGCGCTGGACGGAGCCCTGGAGAGGCCAGAGAACGAGGCTTCCCCAGGCAGCCCCGGGCCTCTTCTCCAGCAAGCTCTCCCTCTGGGGGCATCTCTGCCGCGGCCGGGAGCCAGAGGCCAAGATGCGGAGGGAAAGAGGGCTCCTCTCGTGTTCTCAGGGAAACGCAGGGCCCCGGGTGCCCGTGGCAGGTGTGCCCCTGACCATTTCCAGGAAGACCACCTACTTCAGAAAGAGAAGGAGGTGTCCTCAAGCCACATGGTGTCTGAGGGGGGGCCCCGAGGCGCCTTCCACAAGGGCAGCGCCACCAAGCCTGCGGGCTGCCAGAGCTCATCAAAGGACAGGTCGGCAGCATCCACCCCCAGCAAAGCACTCAAGTTCCCAGTGCACCCAAGGAAGGCGGTGGGGAGCCTGGCACCCGGGGAGCTGGCCCGTGGCACAGAGAATGGGATGAAGCCCGCCACCCCCAAAGCCAAACCCGGCCCCAGCTCCCAGGGCAGTGGAAGCCCTCGCCCCGGCACCAAGACAGGAGGTGGCAGCCAGCCCCAGCCAGCCAGCGGGCAGCTCCAGAGCGAGACAGCCACCACCCCAGCCAAGCCCAGCTTCCCCAGCCGGAGCCCTGCACCAGAGAGGCTCCCCGCTCGAGCCCAAGCCAAGAGCTGCACCAAGGGGCCAAGGGAAGCTGGTGAGCAGGGGCCCCACGGGAGCCTAGGTCCCAAGGAGAAGGGAGAGAGCAGTACGAAGAGGAAAAAGGGCCAGGTCCCAGGGCCAGCCAGGAGTGAAAGTGTGGGGAGCTTCGGGAGAGCCCCCTCAGCCCCTGACAAGCCCCCCCGGACCCCTCGGAAGCAGGCAACTCCCAGCCGCGTGCTCCCGACCAAGCCCAAGCCCAACAGCCAGAACAAACCCAGGCCGCCACCATCAGAGCAGCGGAAGGCAGAGCCGGGCCACACACAGAGGAAGGACAGACTGGGCAAGGCCTTCCCCCAGGGGAGACCCCTGCTCAGGCCCCCCAAGAGGGGCACAGCTGTCCACGGTGCTGAACCTGCCGAGCCACACACCCACCGGACGGCCGAGGCCCAGAGTGACCTCCTCAGCCAGCTCTTCGGGCAGAGACTAACTGGCTTCAAAATCCCTTTAAAGAAAGATGCTTCCGAGTAATTTCTAGGAGCAAGAGCCTGGGACCGGAGCTGGGCGTTCCTGTCTCGGCCTGCCTCCTTGGCCAGCTCCGGCTCCCTGAGATGGTCCACTCTGTGGCCACTTGACTTCTTGTGCAACTGCTCAGGCCTTGATGTCAGAGCTGAGGTGGTGATGCTTTGAACAGGGCCCAGGTGGGCAGCATTCCCTTTCTTGCTGGAAGGCTGGGGGTGAAAGACGGGGCCACTGCAGCCCTTTTGAGACCACACAGCTGTTTTCTTGGTACCAAGTACTTGAAGAGACAGCAGCCCATCCCCTCAGCCCACACCCCTGCGCCCTGTGGGCACCGACACCACAGAAGCCAATGTTTGGAGATTTGCACAACCTCCCGTTCCCCCACATGGAGAAGGGAAGTAAGTTGAGGCAGCCGTGGGATGGTGGTAGGTTCCCTCTTAGTCTTGCTGCTGTTGCTGGAATTCCAAAGTGACCTTAGAAACCACGTGGGGGAAGGCAGTGCTCACTACTTAGAAGGGTTGCTTCTGAGCCGCCTGGTCCCCCAAGAGCACAACAGGCCTCCTCCCTCTGACCACAGGGTCATGCCTCCTCCCTCTGACCACAGGGTCATGCCAGCCTCCATTTGCTCTGCGGGAGAAAAGCCCATCTCTAGCACACCTTGACCCCAGGAACCGGGTTCCCGTATGGAACTGGGAAGAAACCGCCCCTGTGCCAGCTCCCGCGGGCCCTCCTCGTTCCCTCCCAGCCTCCATGGCCGCCCTCTAGAGCCTCCCTGCTGTACGGAGCTCTGGGCTCCGCCTATTTGCAATGTTACTCTGAAGTTTCTGGTGCTATTTTTGTGTTGTAATGTGAATACAGGCTTCCTTGATTTTTTTTTTTAATGGGGGTATTGGGTGGGACAGACGGGGTCAGGGAGGCCCCACCATGGCTTGTCGAGGGCACGGGCACCTGCATGGCGGCGCTCTCCCTGCCTCCCCTGCCGGGCTGCAAGCCTGAGGTCTGTGCTGCCAGACGGGGATGCTCAGGGCTGGGGCTGCAGAGCCGCTGCCCTGGCCAGGGCACCCTCATGCACCGACCCAACCCAGGCCTGGGACGCACGTGTCCTCTCACAGCGTCGTGCCTGTGAAGGTGGGTCAAAGGGTGAGAGGGCTTCCTTCTCACCCTTCTCTCCATAAGTATCTTGAAGATCCATGGTTTGTTTTGCTCTATTGTTTAGTTTTTACTTGGGTGCAATGTGTACGTCAAAAGTTTTTATTTTGATATTTGAAAGAGACCAAATCAGGCCCAGACCGCCTCTCTGGAAGGTGTTGTAGGCCATTCAAAACGCCTCCGGAGTGTCGCAAACCAAGTGCGGAGGGGCCCTGAGGTTGTACTGTAAACATCATAGTGACTTGTCTTTTCAAATATATTCCCACTATTTTCGCAGAAAACCTCCAGCTGCGTGACGTCTGTCCTCCCGCCGGCCCCCATCCCTGGTCTGCACCTCCCTGAGCCTCAGAACTTGGCTCCCAGGGTGTCTGCGCCAGCTGCCACTCTCGGGCCACCGTGGGCCAAGGGCCCAGCCGGGGCTGCGGGACCTCGTGCAGGACCCAGTGATGCAGCCATGGCTGTGTCCTAAGAACACCCCTTCAGCAGTGGGTGTTCCAGGTTTTCCAGAAAGGGGCAAGCCCACCCCGGCCATCCTCACTGAGGACCTCCCCCGCCCCCAGGAGGAACACACCACCCCTTCAGCAGTGGGGGCTGGCCCAGGTTTTCCAGAAAGGGGCAGGCCCACCCCGGCCATCCTCACTGAGGCCCCCCCTCACCCCCCAGGAGGAACAGACGGGAGGCTGAGGTGCCCTGGCGCCCCTCCCCCACATCAGAAGCAGCCCGGGGGACCCAGGGAGCGATGGG
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CCTGGAGGGCAGCAGCGCTGTCGCCCACCTTCTGAACAGCATCACGGAACCCGCGCCCAAACACCACAGGGGCAAGCGCTCCGCCGGCAAGGCCGCCGGGAGCCCGGGAGACCCGTGGGGGCAAGAGGGAGAAGCCAAGAAAGACAGCCCGGGCGAGAGGGCGAAACCCCGGGCACGCAGCACCCCCAGCAACCCAGACGGGGCCGCGACCCCAGACAGCGCCTCTGCCACCGCCCTGGCTGACGCCGGCAGCCCGGGCCCCCCCAGGACGACCCCCAGCCCGTCCCCCGACCCCTGGGCCGGCGGGGAGCCCCTCCTGCAAGCCACCCCGGTGCACGAGGCCTGCAAGGACCCCTCCCGCGACTGCCACCACTGCGGGAAGCGCTTCCCCAAGCCCTTCAAGCTGCAGCGCCACCTGGCGGTGCACAGCCCGCAGCGCGTCTACCTGTGCCCCCGGTGCCCCCGGGTCTACCCCGAGCACGGGGAGCTGCTGGCACACCTGGGCGGGGCGCACGGGCTGCTGGAGCGGCCGGAGCTGCAGCACACGCCGCTGTATGCCTGCGAGCTCTGCGCCACGGTTATGCGCATCATCAAGAAGTCCTTCGCCTGCAGCTCCTGCAACTACACCTTCGCCAAGAAGGAGCAGTTCGACCGCCACATGAACAAGCACCTCAGGGGGGGGCGGCAGCCCTTCGCGTTCCGCGGCGTGCGGAGGCCGGGAGCGCCGGGACAGAAGGCCCGGGCCCTCGAGGGCACACTGCCCAGCAAACGGCGCAGGGTGGCCATGCCCGGCAGTGCCCCTGGGCCCGGCGAGGACAGGCCTCCTCCCCGGGGAAGCAGCCCCATCCTGAGTGAGGGCTCTCTCCCGGCCCTGCTCCACCTGTGTTCGGAGGTGGCTCCCAGCACCACCAAGGGATGGCCCGAGACCCTAGAGAGGCCTGTAGACCCCGTGACCCACCCGATCAGAGGTTGTGAGCTGCCATCCAACCACCAGGAGTGTCCCCCGCCGTCTCTGTCTCCCTTCCCAGCTGCCTTGGCTGATGGCAGAGGAGACTGCGCGCTGGACGGAGCCCTGGAGAGGCCAGAGAACGAGGCTTCCCCAGGCAGCCCCGGGCCTCTTCTCCAGCAAGCTCTCCCTCTGGGGGCATCTCTGCCGCGGCCGGGAGCCAGAGGCCAAGATGCGGAGGGAAAGAGGGCTCCTCTCGTGTTCTCAGGGAAACGCAGGGCCCCGGGTGCCCGTGGCAGGTGTGCCCCTGACCATTTCCAGGAAGACCACCTACTTCAGAAAGAGAAGGAGGTGTCCTCAAGCCACATGGTGTCTGAGGGGGGGCCCCGAGGCGCCTTCCACAAGGGCAGCGCCACCAAGCCTGCGGGCTGCCAGAGCTCATCAAAGGACAGGTCGGCAGCATCCACCCCCAGCAAAGCACTCAAGTTCCCAGTGCACCCAAGGAAGGCGGTGGGGAGCCTGGCACCCGGGGAGCTGGCCCGTGGCACAGAGAATGGGATGAAGCCCGCCACCCCCAAAGCCAAACCCGGCCCCAGCTCCCAGGGCAGTGGAAGCCCTCGCCCCGGCACCAAGACAGGAGGTGGCAGCCAGCCCCAGCCAGCCAGCGGGCAGCTCCAGAGCGAGACAGCCACCACCCCAGCCAAGCCCAGCTTCCCCAGCCGGAGCCCTGCACCAGAGAGGCTCCCCGCTCGAGCCCAAGCCAAGAGCTGCACCAAGGGGCCAAGGGAAGCTGGTGAGCAGGGGCCCCACGGGAGCCTAGGTCCCAAGGAGAAGGGAGAGAGCAGTACGAAGAGGAAAAAGGGCCAGGTCCCAGGGCCAGCCAGGAGTGAAAGTGTGGGGAGCTTCGGGAGAGCCCCCTCAGCCCCTGACAAGCCCCCCCGGACCCCTCGGAAGCAGGCAACTCCCAGCCGCGTGCTCCCGACCAAGCCCAAGCCCAACAGCCAGAACAAACCCAGGCCGCCACCATCAGAGCAGCGGAAGGCAGAGCCGGGCCACACACAGAGGAAGGACAGACTGGGCAAGGCCTTCCCCCAGGGGAGACTCCTGCTCAGGCCCCCCAAGAGGGGCACAGCTGTCCACGGTGCTGAACCTGCCGAGCCACACACCCACCGGACGGCCGAGGCCCAGAGTGACCTCCTCAGCCAGCTCTTCGGGCAGAGACTAACTGGCTTCAAAATCCCTTTAAAGAAAGATGCTTCCGAGTAATTTCTAGGAGCAAGAGCCTGGGACCGGAGCTGGGCGTTCCTGTCTCGGCCTGCCTCCTTGGCCAGCTCCGGCTCCCTGAGATGGTCCACTCTGTGGCCACTTGACTTCTTGTGCAACTGCTCAGGCCTTGATGTCAGAGCTGAGGTGGTGATGCTTTGAACAGGGCCCAGGTGGGCAGCATTCCCTTTCTTGCTGGAAGGCTGGGGGTGAAAGACGGGGCCACTGCAGCCCTTTTGAGACCACACAGCTGTTTTCTTGGTACCAAGTACTTGAAGAGACAGCAGCCCATCCCCTCAGCCCACACCCCTGCGCCCTGTGGGCACCGACACCACAGAAGCCAATGTTTGGAGATTTGCACAACCTCCCGTTCCCCCACATGGAGAAGGGAAGTAAGTTGAGGCAGCCGTGGGATGGTGGTAGGTTCCCTCTTAGTCTTGCTGCTGTTGCTGGAATTCCAAAGTGACCTTAGAAACCACGTGGGGGAAGGCAGTGCTCACTACTTAGAAGGGTTGCTTCTGAGCCGCCTGGTCCCCCAAGAGCACAACAGGCCTCCTCCCTCTGACCACAGGGTCATGCCTCCTCCCTCTGACCACAGGGTCATGCCAGCCTCCATTTGCTCTGCGGGAGAAAAGCCCATCTCTAGCACACCTTGACCCCAGGAACCGGGTTCCCGTATGGAACTGGGAAGAAACCGCCCCTGTGCCAGCTCCCGCGGGCCCTCCTCGTTCCCTCCCAGCCTCCATGGCCGCCCTCTAGAGCCTCCCTGCTGTACGGAGCTCTGGGCTCCGCCTATTTGCAATGTTACTCTGAAGTTTCTGGTGCTATTTTTGTGTTGTAATGTGAATACAGGCTTCCTTGATTTTTTTTTTTAATGGGGGTATTGGGTGGGACAGACGGGGTCAGGGAGGCCCCACCATGGCTTGTCGAGGGCACGGGCACCTGCATGGCGGCGCTCTCCCTGCCTCCCCTGCCGGGCTGCAAGCCTGAGGTCTGTGCTGCCAGACGGGGATGCTCAGGGCTGGGGCTGCAGAGCCGCTGCCCTGGCCAGGGCACCCTCATGCACCGACCCAACCCAGGCCTGGGACGCACGTGTCCTCTCACAGCGTCGTGCCTGTGAAGGTGGGTCAAAGGGTGAGAGGGCTTCCTTCTCACCCTTCTCTCCATAAGTATCTTGAAGATCCATGGTTTGTTTTGCTCTATTGTTTAGTTTTTACTTGGGTGCAATGTGTACGTCAAAAGTTTTTATTTTGATATTTGAAAGAGACCAAATCAGGCCCAGACCGCCTCTCTGGAAGGTGTTGTAGGCCATTCAAAACGCCTCCGGAGTGTCGCAAACCAAGTGCGGAGGGGCCCTGAGGTTGTACTGTAAACATCATAGTGACTTGTCTTTTCAAATATATTCCCACTATTTTCGCAGAAAACCTCCAGCTGCGTGACGTCTGTCCTCCCGCCGGCCCCCATCCCTGGTCTGCACCTCCCTGAGCCTCAGAACTTGGCTCCCAGGGTGTCTGCGCCAGCTGCCACTCTCGGGCCACCGTGGGCCAAGGGCCCAGCCGGGGCTGCGGGACCTCGTGCAGGACCCAGTGATGCAGCCATGGCTGTGTCCTAAGAACACCCCTTCAGCAGTGGGTGTTCCAGGTTTTCCAGAAAGGGGCAAGCCCACCCCGGCCATCCTCACTGAGGACCTCCCCCGCCCCCAGGAGGAACACACCACCCCTTCAGCAGTGGGGGCTGGCCCAGGTTTTCCAGAAAGGGGCAGGCCCACCCCGGCCATCCTCACTGAGGCCCCCCCTCACCCCCCAGGAGGAACAGACGGGAGGCTGAGGTGCCCTGGCGCCCCTCCCCCACATCAGAAGCAGCCCGGGGGACCCAGGGAGCGATGGG
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Task1_train_22993
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The gene CYBA (cytochrome b-245 alpha chain) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
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CAGGTTGGTCTCGAACTCCTGAGCTCAAGTGATCCTCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCATATGAGTTTCTACTAAGCACCTGGCACTGGGAACAGGCCGAGAACAAAATGGTGAAAACCCTTCCTGCCTCCACGGTGACTAATGAAACAAGTGGTGTGTAGTCTGTGAGTGAGTCCAGGACAGAGGCTCTGGGGGAGGGGCTGCAGTTCTTTTTTTTTTTTTTGAGGAGTCTCGCTCTGGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGGGCTGCAGTTCTAAGCAGAGGGTCAGGGAGGCCTCGAAGACCTGAAGGGGAGGAGGAAGGAGCCAGGCAGCCATGCAGGGAACAGCTCCAGGCAGCAGGAAGAGCCCATGCAAAGGCCCTGAGAAGACACATGCTGCGTGTGTCCAAGGGTCAGAGAGTGGCCTGCGTGGCTGATGCCAGGTGAGAGGGGGACCGCAGGGGCAGGGCAGGGCGCTGGGGGTGCAGATCATGTCTGCCCTGGGGCCATCAGAAGCTTGTGGCTGTCACTGGAGGTAGCTGAGCCTGTGGGTTCTGAGCCTGCGGATTCTGAGCCGGAGGCACTGGGGTGAGGCTTTGGGTTTCAATGGCAGCATCAGGATGGTTTCAGGGGATGAGGGCAGAGCGGGAGGCGGCAGGTGGCCTGGGTGGGGATGGCCCATGTAGCTGGGGTCTGGATTTGGGCCAGGATTGGATGTGGGGTGTGGGGGTTTCAAGGGTGACCTGAAGCTTGGTGACCTGGGGGGACGGCTGAGATGAGGCTGGATTGAGACGTCTGTATGGTGCCGAGTGTTGGCTGGTGGGGGGTGGATTCTGAAGGCCCCCAGGAACAGAGGACCCTGGCTCTGAAGTGTGAGTTGCTGGGAGAGCAGGTGGACAAGCAGCAGGCAAGGGCTTCTCCGGCCTCAGGGGAGTGGGTGCCTTGGCGAGAGCCCAAAGGTGGGGGACGTGGCTGACGCCGGGCAAAGCTTTGGGGGCACCGGGCTGGGGTGGTGGTGAGGACCTGTGGGCAGGTGTGTGTGCAGCCAGCCACAGCCTCCGCACAAGTGAGGGGAAGGGGTGGCCAGAAGCCCCTGCAACTTGGCCTGAGCGTCCTGGGCAGCTGGGGGGCCCCCCAGCATCAGTGTGGGGGCAAACAAGGCCACATCCGCCACCAGCTTCACCCCAGCTTCTACGGAAAAGAGGCGCAGGGTAGAGGCTCACCACGTGGCTCCGACCCTGTTCCCTTTTCACTTAACGCCAGCGGCCTCCTCTGGAATCCAAGCCCCTTAGGGAGGCGTTAGGTGTGGAGGGCCTGCAGGGCCTGCAGGAGCTGTCAAGGGAGGACTCTGCTGCCTCCTCCAGGCCCGGGAGGACCTTTCTAGGGAGGCACACACCTGGAATCCAGGTACTATATTTCGTGGAATATACGGTACCCGGGATTTCGTGTGCTGCTGAGAAGGAAGGCGATGCTGATGTTAATGAAACTGGAATGCGGCCCGGCTGGCAGGAAACGGGGTGCCTGCCCAGGCCTCGGGAACCATCGCTACCCCAGCCCCGCCCACCGGCCCCAGGCAGAGGCTCACGCGCTCCCGGCTTCGCTGCATTTATTGCAGGTGGGTGCACCTGGCGGGAGGGCAGGTCCGGGGCGAGGTCACACGACCTCGTCGGTCACCGGGATGGGGTTGACCTGGGGACCTCCCGGGGGTCCCCCCGCCGCCACCGCAGCCTCCTCCTCGCTGGGCTTCTTGCGGGCCTCGGCCGGGGGCCGCGGCGGGGGGTTGCTGGGCGGCTGCTTGATGGTGCCTCCGATCTGCGGCCGCTCCCGGGGCTTGGGCTCGATGGGCGTCCACTGCTCGCCACGCACAGCCGCCTGCGGGGCACTGAAGGGTTGAGCCGCGCCCCAGCGCCCGCCCTCCCTCCCTCCCTCCCTCCCCGGAGGCCCACCCCGCTAGGGGCCCTGGGACAGGCTCAAGTCTGAATCCCACGCAGGATGGTGTGACTGCCACTCAGAGAGGTTAAGTGACGCGCCCGAGGCCACACAGCCAGGACCTGGGTCGGCCTGACACCAGCCCAAGCTATTTCTTCATGCCAGGAGTGGGGCCCGAACCCCTGGGCTTCTGGAAGATCCCGTGGTGGACACTCCCAGATGCAAATTCTAGTACTCAAATTCTCCTCTCAAGGTGCCAAGGGCAGGGAAGGCAGGGAGGCAGGCCCGAGGTCCAGCAGGAGGGGTGGCCCAGGAGAGTAGCAGGCCCTGCTCCGTCTGGTGGGCGCCATTCACCCACGCTGGCCGGCAGCCCCCCAAGGGTGCCCAGGCATTTCTGCACATGGGGGTGGTGGGGGGAGAGCTTGAAGACCACGGGATTCCACTGGCTTTTACTAAAAATACAGACTCCTGGGCCCATGCCCGGAGGTTCCACTGCAACAGGTCAAGTGGACCTGGGAGTGTGTGCTTTTCATCTTCTATCCCATAATATCTGGTGGAAAAATATGTCACATCATATACGTCATGAACAGAAAGAGAAACTGGACATGTGTGATCCTACCTGACTCCAAAACGGAAACATTCCATTCTGAAAAGCAAAACTAGAAGGCTGATAGAAGAAAAGGCAGGAACGTGAAGGCAGGACCCAGGGCCAGGGAAAGGTGTTTTCACAAAGCACAGACCATAGAGCAGGTGAACAGGGAAACCTCTGCTCTTCCGTGCAGTGAAGGACTCCACGCGCCAAGTTAACAGACCCTCACCAGAAAGCATGAAGGCATCCCCAGTGTTTAAAGGTTACAAAGGCTAAATAGCTAAAATATATGTGGACTTCCTGCAACTTAAGAAAAAGACAATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAAGGAGATCCAGACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAATACCAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGTGGGTTGTCTGCTGAGGAGCAGCTGAGCCCGGCAGGGTGAACGGTGCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCC
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CAGGTTGGTCTCGAACTCCTGAGCTCAAGTGATCCTCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCATATGAGTTTCTACTAAGCACCTGGCACTGGGAACAGGCCGAGAACAAAATGGTGAAAACCCTTCCTGCCTCCACGGTGACTAATGAAACAAGTGGTGTGTAGTCTGTGAGTGAGTCCAGGACAGAGGCTCTGGGGGAGGGGCTGCAGTTCTTTTTTTTTTTTTTGAGGAGTCTCGCTCTGGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGGGCTGCAGTTCTAAGCAGAGGGTCAGGGAGGCCTCGAAGACCTGAAGGGGAGGAGGAAGGAGCCAGGCAGCCATGCAGGGAACAGCTCCAGGCAGCAGGAAGAGCCCATGCAAAGGCCCTGAGAAGACACATGCTGCGTGTGTCCAAGGGTCAGAGAGTGGCCTGCGTGGCTGATGCCAGGTGAGAGGGGGACCGCAGGGGCAGGGCAGGGCGCTGGGGGTGCAGATCATGTCTGCCCTGGGGCCATCAGAAGCTTGTGGCTGTCACTGGAGGTAGCTGAGCCTGTGGGTTCTGAGCCTGCGGATTCTGAGCCGGAGGCACTGGGGTGAGGCTTTGGGTTTCAATGGCAGCATCAGGATGGTTTCAGGGGATGAGGGCAGAGCGGGAGGCGGCAGGTGGCCTGGGTGGGGATGGCCCATGTAGCTGGGGTCTGGATTTGGGCCAGGATTGGATGTGGGGTGTGGGGGTTTCAAGGGTGACCTGAAGCTTGGTGACCTGGGGGGACGGCTGAGATGAGGCTGGATTGAGACGTCTGTATGGTGCCGAGTGTTGGCTGGTGGGGGGTGGATTCTGAAGGCCCCCAGGAACAGAGGACCCTGGCTCTGAAGTGTGAGTTGCTGGGAGAGCAGGTGGACAAGCAGCAGGCAAGGGCTTCTCCGGCCTCAGGGGAGTGGGTGCCTTGGCGAGAGCCCAAAGGTGGGGGACGTGGCTGACGCCGGGCAAAGCTTTGGGGGCACCGGGCTGGGGTGGTGGTGAGGACCTGTGGGCAGGTGTGTGTGCAGCCAGCCACAGCCTCCGCACAAGTGAGGGGAAGGGGTGGCCAGAAGCCCCTGCAACTTGGCCTGAGCGTCCTGGGCAGCTGGGGGGCCCCCCAGCATCAGTGTGGGGGCAAACAAGGCCACATCCGCCACCAGCTTCACCCCAGCTTCTACGGAAAAGAGGCGCAGGGTAGAGGCTCACCACGTGGCTCCGACCCTGTTCCCTTTTCACTTAACGCCAGCGGCCTCCTCTGGAATCCAAGCCCCTTAGGGAGGCGTTAGGTGTGGAGGGCCTGCAGGGCCTGCAGGAGCTGTCAAGGGAGGACTCTGCTGCCTCCTCCAGGCCCGGGAGGACCTTTCTAGGGAGGCACACACCTGGAATCCAGGTACTATATTTCGTGGAATATACGGTACCCGGGATTTCGTGTGCTGCTGAGAAGGAAGGCGATGCTGATGTTAATGAAACTGGAATGCGGCCCGGCTGGCAGGAAACGGGGTGCCTGCCCAGGCCTCGGGAACCATCGCTACCCCAGCCCCGCCCACCGGCCCCAGGCAGAGGCTCACGCGCTCCCGGCTTCGCTGCATTTATTGCAGGTGGGTGCACCTGGCGGGAGGGCAGGTCCGGGGCGAGGTCACACGACCTCGTCGGTCACCGGGATGGGGTTGACCTGGGGACCTCCCGGGGGTCCCCCCGCCGCCACCGCAGCCTCCTCCTCGCTGGGCTTCTTGCGGGCCTCGGCCGGGGGCCGCGGCTGGGGGTTGCTGGGCGGCTGCTTGATGGTGCCTCCGATCTGCGGCCGCTCCCGGGGCTTGGGCTCGATGGGCGTCCACTGCTCGCCACGCACAGCCGCCTGCGGGGCACTGAAGGGTTGAGCCGCGCCCCAGCGCCCGCCCTCCCTCCCTCCCTCCCTCCCCGGAGGCCCACCCCGCTAGGGGCCCTGGGACAGGCTCAAGTCTGAATCCCACGCAGGATGGTGTGACTGCCACTCAGAGAGGTTAAGTGACGCGCCCGAGGCCACACAGCCAGGACCTGGGTCGGCCTGACACCAGCCCAAGCTATTTCTTCATGCCAGGAGTGGGGCCCGAACCCCTGGGCTTCTGGAAGATCCCGTGGTGGACACTCCCAGATGCAAATTCTAGTACTCAAATTCTCCTCTCAAGGTGCCAAGGGCAGGGAAGGCAGGGAGGCAGGCCCGAGGTCCAGCAGGAGGGGTGGCCCAGGAGAGTAGCAGGCCCTGCTCCGTCTGGTGGGCGCCATTCACCCACGCTGGCCGGCAGCCCCCCAAGGGTGCCCAGGCATTTCTGCACATGGGGGTGGTGGGGGGAGAGCTTGAAGACCACGGGATTCCACTGGCTTTTACTAAAAATACAGACTCCTGGGCCCATGCCCGGAGGTTCCACTGCAACAGGTCAAGTGGACCTGGGAGTGTGTGCTTTTCATCTTCTATCCCATAATATCTGGTGGAAAAATATGTCACATCATATACGTCATGAACAGAAAGAGAAACTGGACATGTGTGATCCTACCTGACTCCAAAACGGAAACATTCCATTCTGAAAAGCAAAACTAGAAGGCTGATAGAAGAAAAGGCAGGAACGTGAAGGCAGGACCCAGGGCCAGGGAAAGGTGTTTTCACAAAGCACAGACCATAGAGCAGGTGAACAGGGAAACCTCTGCTCTTCCGTGCAGTGAAGGACTCCACGCGCCAAGTTAACAGACCCTCACCAGAAAGCATGAAGGCATCCCCAGTGTTTAAAGGTTACAAAGGCTAAATAGCTAAAATATATGTGGACTTCCTGCAACTTAAGAAAAAGACAATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAAGGAGATCCAGACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAATACCAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGTGGGTTGTCTGCTGAGGAGCAGCTGAGCCCGGCAGGGTGAACGGTGCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCC
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Task1_train_22994
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This genomic variant is located on Chromosome 16, within the CYBA (cytochrome b-245 alpha chain) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
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ATGAGTTTCTACTAAGCACCTGGCACTGGGAACAGGCCGAGAACAAAATGGTGAAAACCCTTCCTGCCTCCACGGTGACTAATGAAACAAGTGGTGTGTAGTCTGTGAGTGAGTCCAGGACAGAGGCTCTGGGGGAGGGGCTGCAGTTCTTTTTTTTTTTTTTGAGGAGTCTCGCTCTGGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGGGCTGCAGTTCTAAGCAGAGGGTCAGGGAGGCCTCGAAGACCTGAAGGGGAGGAGGAAGGAGCCAGGCAGCCATGCAGGGAACAGCTCCAGGCAGCAGGAAGAGCCCATGCAAAGGCCCTGAGAAGACACATGCTGCGTGTGTCCAAGGGTCAGAGAGTGGCCTGCGTGGCTGATGCCAGGTGAGAGGGGGACCGCAGGGGCAGGGCAGGGCGCTGGGGGTGCAGATCATGTCTGCCCTGGGGCCATCAGAAGCTTGTGGCTGTCACTGGAGGTAGCTGAGCCTGTGGGTTCTGAGCCTGCGGATTCTGAGCCGGAGGCACTGGGGTGAGGCTTTGGGTTTCAATGGCAGCATCAGGATGGTTTCAGGGGATGAGGGCAGAGCGGGAGGCGGCAGGTGGCCTGGGTGGGGATGGCCCATGTAGCTGGGGTCTGGATTTGGGCCAGGATTGGATGTGGGGTGTGGGGGTTTCAAGGGTGACCTGAAGCTTGGTGACCTGGGGGGACGGCTGAGATGAGGCTGGATTGAGACGTCTGTATGGTGCCGAGTGTTGGCTGGTGGGGGGTGGATTCTGAAGGCCCCCAGGAACAGAGGACCCTGGCTCTGAAGTGTGAGTTGCTGGGAGAGCAGGTGGACAAGCAGCAGGCAAGGGCTTCTCCGGCCTCAGGGGAGTGGGTGCCTTGGCGAGAGCCCAAAGGTGGGGGACGTGGCTGACGCCGGGCAAAGCTTTGGGGGCACCGGGCTGGGGTGGTGGTGAGGACCTGTGGGCAGGTGTGTGTGCAGCCAGCCACAGCCTCCGCACAAGTGAGGGGAAGGGGTGGCCAGAAGCCCCTGCAACTTGGCCTGAGCGTCCTGGGCAGCTGGGGGGCCCCCCAGCATCAGTGTGGGGGCAAACAAGGCCACATCCGCCACCAGCTTCACCCCAGCTTCTACGGAAAAGAGGCGCAGGGTAGAGGCTCACCACGTGGCTCCGACCCTGTTCCCTTTTCACTTAACGCCAGCGGCCTCCTCTGGAATCCAAGCCCCTTAGGGAGGCGTTAGGTGTGGAGGGCCTGCAGGGCCTGCAGGAGCTGTCAAGGGAGGACTCTGCTGCCTCCTCCAGGCCCGGGAGGACCTTTCTAGGGAGGCACACACCTGGAATCCAGGTACTATATTTCGTGGAATATACGGTACCCGGGATTTCGTGTGCTGCTGAGAAGGAAGGCGATGCTGATGTTAATGAAACTGGAATGCGGCCCGGCTGGCAGGAAACGGGGTGCCTGCCCAGGCCTCGGGAACCATCGCTACCCCAGCCCCGCCCACCGGCCCCAGGCAGAGGCTCACGCGCTCCCGGCTTCGCTGCATTTATTGCAGGTGGGTGCACCTGGCGGGAGGGCAGGTCCGGGGCGAGGTCACACGACCTCGTCGGTCACCGGGATGGGGTTGACCTGGGGACCTCCCGGGGGTCCCCCCGCCGCCACCGCAGCCTCCTCCTCGCTGGGCTTCTTGCGGGCCTCGGCCGGGGGCCGCGGCGGGGGGTTGCTGGGCGGCTGCTTGATGGTGCCTCCGATCTGCGGCCGCTCCCGGGGCTTGGGCTCGATGGGCGTCCACTGCTCGCCACGCACAGCCGCCTGCGGGGCACTGAAGGGTTGAGCCGCGCCCCAGCGCCCGCCCTCCCTCCCTCCCTCCCTCCCCGGAGGCCCACCCCGCTAGGGGCCCTGGGACAGGCTCAAGTCTGAATCCCACGCAGGATGGTGTGACTGCCACTCAGAGAGGTTAAGTGACGCGCCCGAGGCCACACAGCCAGGACCTGGGTCGGCCTGACACCAGCCCAAGCTATTTCTTCATGCCAGGAGTGGGGCCCGAACCCCTGGGCTTCTGGAAGATCCCGTGGTGGACACTCCCAGATGCAAATTCTAGTACTCAAATTCTCCTCTCAAGGTGCCAAGGGCAGGGAAGGCAGGGAGGCAGGCCCGAGGTCCAGCAGGAGGGGTGGCCCAGGAGAGTAGCAGGCCCTGCTCCGTCTGGTGGGCGCCATTCACCCACGCTGGCCGGCAGCCCCCCAAGGGTGCCCAGGCATTTCTGCACATGGGGGTGGTGGGGGGAGAGCTTGAAGACCACGGGATTCCACTGGCTTTTACTAAAAATACAGACTCCTGGGCCCATGCCCGGAGGTTCCACTGCAACAGGTCAAGTGGACCTGGGAGTGTGTGCTTTTCATCTTCTATCCCATAATATCTGGTGGAAAAATATGTCACATCATATACGTCATGAACAGAAAGAGAAACTGGACATGTGTGATCCTACCTGACTCCAAAACGGAAACATTCCATTCTGAAAAGCAAAACTAGAAGGCTGATAGAAGAAAAGGCAGGAACGTGAAGGCAGGACCCAGGGCCAGGGAAAGGTGTTTTCACAAAGCACAGACCATAGAGCAGGTGAACAGGGAAACCTCTGCTCTTCCGTGCAGTGAAGGACTCCACGCGCCAAGTTAACAGACCCTCACCAGAAAGCATGAAGGCATCCCCAGTGTTTAAAGGTTACAAAGGCTAAATAGCTAAAATATATGTGGACTTCCTGCAACTTAAGAAAAAGACAATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAAGGAGATCCAGACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAATACCAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGTGGGTTGTCTGCTGAGGAGCAGCTGAGCCCGGCAGGGTGAACGGTGCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCCGGAGCCCAGGGCAGGCAGAGGGCATTTCACCCAAGGCCTGGCCAGGCTGCGCCCTGTCCTCCCACCCATCCCTGGCCTCTCAGAGAGATCACTG
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ATGAGTTTCTACTAAGCACCTGGCACTGGGAACAGGCCGAGAACAAAATGGTGAAAACCCTTCCTGCCTCCACGGTGACTAATGAAACAAGTGGTGTGTAGTCTGTGAGTGAGTCCAGGACAGAGGCTCTGGGGGAGGGGCTGCAGTTCTTTTTTTTTTTTTTGAGGAGTCTCGCTCTGGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGGGCTGCAGTTCTAAGCAGAGGGTCAGGGAGGCCTCGAAGACCTGAAGGGGAGGAGGAAGGAGCCAGGCAGCCATGCAGGGAACAGCTCCAGGCAGCAGGAAGAGCCCATGCAAAGGCCCTGAGAAGACACATGCTGCGTGTGTCCAAGGGTCAGAGAGTGGCCTGCGTGGCTGATGCCAGGTGAGAGGGGGACCGCAGGGGCAGGGCAGGGCGCTGGGGGTGCAGATCATGTCTGCCCTGGGGCCATCAGAAGCTTGTGGCTGTCACTGGAGGTAGCTGAGCCTGTGGGTTCTGAGCCTGCGGATTCTGAGCCGGAGGCACTGGGGTGAGGCTTTGGGTTTCAATGGCAGCATCAGGATGGTTTCAGGGGATGAGGGCAGAGCGGGAGGCGGCAGGTGGCCTGGGTGGGGATGGCCCATGTAGCTGGGGTCTGGATTTGGGCCAGGATTGGATGTGGGGTGTGGGGGTTTCAAGGGTGACCTGAAGCTTGGTGACCTGGGGGGACGGCTGAGATGAGGCTGGATTGAGACGTCTGTATGGTGCCGAGTGTTGGCTGGTGGGGGGTGGATTCTGAAGGCCCCCAGGAACAGAGGACCCTGGCTCTGAAGTGTGAGTTGCTGGGAGAGCAGGTGGACAAGCAGCAGGCAAGGGCTTCTCCGGCCTCAGGGGAGTGGGTGCCTTGGCGAGAGCCCAAAGGTGGGGGACGTGGCTGACGCCGGGCAAAGCTTTGGGGGCACCGGGCTGGGGTGGTGGTGAGGACCTGTGGGCAGGTGTGTGTGCAGCCAGCCACAGCCTCCGCACAAGTGAGGGGAAGGGGTGGCCAGAAGCCCCTGCAACTTGGCCTGAGCGTCCTGGGCAGCTGGGGGGCCCCCCAGCATCAGTGTGGGGGCAAACAAGGCCACATCCGCCACCAGCTTCACCCCAGCTTCTACGGAAAAGAGGCGCAGGGTAGAGGCTCACCACGTGGCTCCGACCCTGTTCCCTTTTCACTTAACGCCAGCGGCCTCCTCTGGAATCCAAGCCCCTTAGGGAGGCGTTAGGTGTGGAGGGCCTGCAGGGCCTGCAGGAGCTGTCAAGGGAGGACTCTGCTGCCTCCTCCAGGCCCGGGAGGACCTTTCTAGGGAGGCACACACCTGGAATCCAGGTACTATATTTCGTGGAATATACGGTACCCGGGATTTCGTGTGCTGCTGAGAAGGAAGGCGATGCTGATGTTAATGAAACTGGAATGCGGCCCGGCTGGCAGGAAACGGGGTGCCTGCCCAGGCCTCGGGAACCATCGCTACCCCAGCCCCGCCCACCGGCCCCAGGCAGAGGCTCACGCGCTCCCGGCTTCGCTGCATTTATTGCAGGTGGGTGCACCTGGCGGGAGGGCAGGTCCGGGGCGAGGTCACACGACCTCGTCGGTCACCGGGATGGGGTTGACCTGGGGACCTCCCGGGGGTCCCCCCGCCGCCACCGCAGCCTCCTCCTCGCTGGGCTTCTTGCGGGCCTCGGCCGGGGGCCGCGGCGGGGGGTTGCTGGGCGGCTGCTTGATGGTGCCTCCGATCTGCGGCCGCTCCCGGGGCTTGGGCTCGATGGGCGTCCACTGCTCGCCACGCACAGTCGCCTGCGGGGCACTGAAGGGTTGAGCCGCGCCCCAGCGCCCGCCCTCCCTCCCTCCCTCCCTCCCCGGAGGCCCACCCCGCTAGGGGCCCTGGGACAGGCTCAAGTCTGAATCCCACGCAGGATGGTGTGACTGCCACTCAGAGAGGTTAAGTGACGCGCCCGAGGCCACACAGCCAGGACCTGGGTCGGCCTGACACCAGCCCAAGCTATTTCTTCATGCCAGGAGTGGGGCCCGAACCCCTGGGCTTCTGGAAGATCCCGTGGTGGACACTCCCAGATGCAAATTCTAGTACTCAAATTCTCCTCTCAAGGTGCCAAGGGCAGGGAAGGCAGGGAGGCAGGCCCGAGGTCCAGCAGGAGGGGTGGCCCAGGAGAGTAGCAGGCCCTGCTCCGTCTGGTGGGCGCCATTCACCCACGCTGGCCGGCAGCCCCCCAAGGGTGCCCAGGCATTTCTGCACATGGGGGTGGTGGGGGGAGAGCTTGAAGACCACGGGATTCCACTGGCTTTTACTAAAAATACAGACTCCTGGGCCCATGCCCGGAGGTTCCACTGCAACAGGTCAAGTGGACCTGGGAGTGTGTGCTTTTCATCTTCTATCCCATAATATCTGGTGGAAAAATATGTCACATCATATACGTCATGAACAGAAAGAGAAACTGGACATGTGTGATCCTACCTGACTCCAAAACGGAAACATTCCATTCTGAAAAGCAAAACTAGAAGGCTGATAGAAGAAAAGGCAGGAACGTGAAGGCAGGACCCAGGGCCAGGGAAAGGTGTTTTCACAAAGCACAGACCATAGAGCAGGTGAACAGGGAAACCTCTGCTCTTCCGTGCAGTGAAGGACTCCACGCGCCAAGTTAACAGACCCTCACCAGAAAGCATGAAGGCATCCCCAGTGTTTAAAGGTTACAAAGGCTAAATAGCTAAAATATATGTGGACTTCCTGCAACTTAAGAAAAAGACAATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAAGGAGATCCAGACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAATACCAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGTGGGTTGTCTGCTGAGGAGCAGCTGAGCCCGGCAGGGTGAACGGTGCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCCGGAGCCCAGGGCAGGCAGAGGGCATTTCACCCAAGGCCTGGCCAGGCTGCGCCCTGTCCTCCCACCCATCCCTGGCCTCTCAGAGAGATCACTG
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Task1_train_22995
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The gene CYBA (cytochrome b-245 alpha chain) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; not specified
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TACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGTGGGTTGTCTGCTGAGGAGCAGCTGAGCCCGGCAGGGTGAACGGTGCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCCGGAGCCCAGGGCAGGCAGAGGGCATTTCACCCAAGGCCTGGCCAGGCTGCGCCCTGTCCTCCCACCCATCCCTGGCCTCTCAGAGAGATCACTGTATCCCATGGGATGGGCAGCCTTCTAACAGGGTGCAGCAGTCATAAACCAAACGCAGGTGTCGGCAGTTTAAGAAAATGTCTGCGTCCTGGCACCGCCCATGAATCAGCGCGAATAGGGTTTAGGTGAGAAAAGCCTGATAATGGGACCCAAGCGCAGGCACGGTCTTCGGCCGGCTGCGTGACCCCAGGCCAGTCACAGCACCTCCCTGAGCCTCCGCATCTTTGTCTGTAAAGTGGGGACCCCAGTACCCCTCCCAGGGCTGTGGTGCGGGTTAATGAGGAAATGCAAGGAAATGACCCGACACACTAGACACGCCAAAAATGGCAGCAGCAACCGCTGCGTCCCCGCCGTGCTGTGAGCACACGCCCAGGCTCACACTTGCTCCCAGCCTTGGCTCAGCCTACAGAGCCGGCTTCAAGGGCCATGCGTGTCCGAGGGTGTCAGGGCAGGGGCTGGGGATGGGGGTGGCCGGGGCCGACCTCAGAGGGCGCCACTCACCAGTAGGTAGATGCCGCTCGCAATGGCCAGGCAGGCGGTCCCAAGGATGGTGGCCAGCAGGAAGCCGGCGGGCACCGAGAGCCTGGGGGACAGCGGGTGAGAGGCAGGGACACAGAAGGGCACTCAGAAAGGGGAACGGAGCCCCAGGTCTGGGGGCCAAGGCCACAAAGTCTCAGGACAAGGCAGACTGCAGACCCAGGGGACGTGCGCGGACCGGGGCTTGTTTCGGTCCTGGGTGTTCTCAGCCTTGATGTGGACACTAGCGGCTCTGGTGCACTTGCTCGGAGGAAGCAGCCACGTGTGGGTGTCCTGGCCTCAGCCGGCAGTAACCAGCAGACACACAGCACGGAACCCTCCACCCTACCAGGAAGCCCAGGCAAGACCCCCCAGCAGTGCATGCTGACCCCAGACCCTGGCGACGGATCGGAGCTCCTCGGATTTGGAGTGGATCCTTACAAATCCTGCACACTAGACAGCAGACACAGGCCCTGCCAGAGCCAGGGACCCGAATTTTTGTTTGGAAAAACACTGAGGTAAGTGGGGGTGGCTCCTGTCCAGGCAGCCCGGCCGGTGGGACAGTGGGGAGGGTCGGCTCCAAGCCCTCCTGAGCCCTAGAGGGGGTGCGGGACGGGGACTCACAGGAGATGCAGGACGGCCCGAACATAGTAATTCCTGGTAAAGGGCCCGAACAGCTTCACCACGGCGGTCATGTACTTCTGTCCCCTGGGGGAGGGAGGAAGGCGAGACGGCGCGGCTGGGCCTCTCCCACTCGGGACTCCTTTGCTGCCCTGCTGACCACCCCAGGGCACCCAGGCCTCTTTCCTCCCACAAAACACACCGGGCAGGCACCGGCCTTGGTTTACCCACAAGCACCAAAGGGTTGGTTCCGGAGCCTCCAAGTGAGAAACCAAGCTCCACCCAACCCTGTGAGCCCTGCCTGGGCCCCGCAGCCCCCGGAGAGACCCCAGAGCAGGAGGAGACTCACCAGCGCTCCATGGTGGAGCCCTTCTTCCTCTTCCCCCGGGGGTACTCCAGCAGGCACACAAACACGCCCGCCACACTGAAGCCATGTGGTTAAGGAACAGCCCAGCTCAGCCTGAGGGGCCACAGGGAACTCCCTTTACTGAAGACAACACAGAGAGGGGCCCGAGCACGGTGGCTCATGCCTGGAATCCCAGCATTTTGGGAGGCTGAGGCGGGAGGATCACTGGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCTCATCTCTACAAAAAATTTAAAAGCCAGGTGCAGTGGTGTGTGCCTGTGGTCCCAGCTACTCCAGAGGCTGAGGTAAGAGGGTGGCCTGAGCCCAGGTGGAGGCTGCCATGAGTCACAGCTGCACCACTGCACTGCAGCCTGGGGGACAGAGCGAGACCCTGTCTCAAAAAAGGTCGGGGGCAGCCACTGCCTGAGGTCACAGAGCCAGGAGGCAGCCACGGGAGGTTCCAACAGGTCTGGCACTCGGGGCTGCCCACGCCCTCCCTCCCACCACCCTGCCCAGTGCTCCTTGTCGCAAGGTCCGGCTGGGCGGCAGGGCTGAGATGGGGCAGAGGAGGTAGAGGGGCCGGTCAAGGGGGATGACTGACAGGAGCGGGCAGAGGGGATCCCAGCAGTCCAACAGGGAGGCCTCAGTGCTGGCCCTGGCCCTCTGGTGACACCCCCTGCCCACCACTCACCAGGACTTAGACTGGCGGGTCTGCCGCTGATCGCCACATGGTCCTGGCGAGGGGCCTGGCTGCTGGGGCCTGGGCTGCCCAACCCGTGCACAGCCCACCCTGTGTCCCAGCCTGGCTGCGGTGGTGGGGAGCGGAGGCAAACAGCTCACTGTGAAGTGGCTCCCCAGCTCTGCCCTGGGCGTTCCCCGCCCACCCCAGCCTCAGGTGGAAGGATACATGGAGTAGGCACCAAAGTACCACTGGGTGAAGCGCCCAGCTGTGGCCACGATGCCCCCGGTGATGAGGACTGCGGGGAGAAGTGGGTCAGGCACTGTGGGGCTCCCGTCCCGGGGGCCTGGGCCACCCCCCTTCTCTACCTACTGTGGGCCACCAGGCCACCCAGAGCTGCCCCCTACCCATCCCCACAGCACAGTGACAGGGTCGGGGACACCCCCAGGAGGCACCCCTCTGCACTGGTGAAGAGCAGAGCCTGTGGCGCACGGGCTGGCGGAGGGGGTGCTGGACATGCCCGGGCTCTGGGTCCCAGGAGTGGCCAAGGACAGCCCGACCTGCAGGCCCCAGTGGGCTCTGGGACCCCCAAATGGACCCCCTTGTCACCATGAGTCTTTGTTTGATGCACTGAAAGCTAACAGGCCGAGTGTGGTTTCTGCATCTTCTTGGGGGAGTGTCTTTTTCCCCCCGATACGGAGTTCCTCTTAACCCGTCAGCGGTTTTGCCTTAATTTCGGTTTCGTCTGATATGGCTATTTCTGCACATTTTTGGGGGGGTATTGTCCAATATTCCCCCTTACTGTTTTTTTTTTTTTTCGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCTACCTCCGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTACATTTTTATTAGAGACAG
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TACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGTGGGTTGTCTGCTGAGGAGCAGCTGAGCCCGGCAGGGTGAACGGTGCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCCGGAGCCCAGGGCAGGCAGAGGGCATTTCACCCAAGGCCTGGCCAGGCTGCGCCCTGTCCTCCCACCCATCCCTGGCCTCTCAGAGAGATCACTGTATCCCATGGGATGGGCAGCCTTCTAACAGGGTGCAGCAGTCATAAACCAAACGCAGGTGTCGGCAGTTTAAGAAAATGTCTGCGTCCTGGCACCGCCCATGAATCAGCGCGAATAGGGTTTAGGTGAGAAAAGCCTGATAATGGGACCCAAGCGCAGGCACGGTCTTCGGCCGGCTGCGTGACCCCAGGCCAGTCACAGCACCTCCCTGAGCCTCCGCATCTTTGTCTGTAAAGTGGGGACCCCAGTACCCCTCCCAGGGCTGTGGTGCGGGTTAATGAGGAAATGCAAGGAAATGACCCGACACACTAGACACGCCAAAAATGGCAGCAGCAACCGCTGCGTCCCCGCCGTGCTGTGAGCACACGCCCAGGCTCACACTTGCTCCCAGCCTTGGCTCAGCCTACAGAGCCGGCTTCAAGGGCCATGCGTGTCCGAGGGTGTCAGGGCAGGGGCTGGGGATGGGGGTGGCCGGGGCCGACCTCAGAGGGCGCCACTCACCAGTAGGTAGATGCCGCTCGCAATGGCCAGGCAGGCGGTCCCAAGGATGGTGGCCAGCAGGAAGCCGGCGGGCACCGAGAGCCTGGGGGACAGCGGGTGAGAGGCAGGGACACAGAAGGGCACTCAGAAAGGGGAACGGAGCCCCAGGTCTGGGGGCCAAGGCCACAAAGTCTCAGGACAAGGCAGACTGCAGACCCAGGGGACGTGCGCGGACCGGGGCTTGTTTCGGTCCTGGGTGTTCTCAGCCTTGATGTGGACACTAGCGGCTCTGGTGCACTTGCTCGGAGGAAGCAGCCACGTGTGGGTGTCCTGGCCTCAGCCGGCAGTAACCAGCAGACACACAGCACGGAACCCTCCACCCTACCAGGAAGCCCAGGCAAGACCCCCCAGCAGTGCATGCTGACCCCAGACCCTGGCGACGGATCGGAGCTCCTCGGATTTGGAGTGGATCCTTACAAATCCTGCACACTAGACAGCAGACACAGGCCCTGCCAGAGCCAGGGACCCGAATTTTTGTTTGGAAAAACACTGAGGTAAGTGGGGGTGGCTCCTGTCCAGGCAGCCCGGCCGGTGGGACAGTGGGGAGGGTCGGCTCCAAGCCCTCCTGAGCCCTAGAGGGGGTGCGGGACGGGGACTCACAGGAGACGCAGGACGGCCCGAACATAGTAATTCCTGGTAAAGGGCCCGAACAGCTTCACCACGGCGGTCATGTACTTCTGTCCCCTGGGGGAGGGAGGAAGGCGAGACGGCGCGGCTGGGCCTCTCCCACTCGGGACTCCTTTGCTGCCCTGCTGACCACCCCAGGGCACCCAGGCCTCTTTCCTCCCACAAAACACACCGGGCAGGCACCGGCCTTGGTTTACCCACAAGCACCAAAGGGTTGGTTCCGGAGCCTCCAAGTGAGAAACCAAGCTCCACCCAACCCTGTGAGCCCTGCCTGGGCCCCGCAGCCCCCGGAGAGACCCCAGAGCAGGAGGAGACTCACCAGCGCTCCATGGTGGAGCCCTTCTTCCTCTTCCCCCGGGGGTACTCCAGCAGGCACACAAACACGCCCGCCACACTGAAGCCATGTGGTTAAGGAACAGCCCAGCTCAGCCTGAGGGGCCACAGGGAACTCCCTTTACTGAAGACAACACAGAGAGGGGCCCGAGCACGGTGGCTCATGCCTGGAATCCCAGCATTTTGGGAGGCTGAGGCGGGAGGATCACTGGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCTCATCTCTACAAAAAATTTAAAAGCCAGGTGCAGTGGTGTGTGCCTGTGGTCCCAGCTACTCCAGAGGCTGAGGTAAGAGGGTGGCCTGAGCCCAGGTGGAGGCTGCCATGAGTCACAGCTGCACCACTGCACTGCAGCCTGGGGGACAGAGCGAGACCCTGTCTCAAAAAAGGTCGGGGGCAGCCACTGCCTGAGGTCACAGAGCCAGGAGGCAGCCACGGGAGGTTCCAACAGGTCTGGCACTCGGGGCTGCCCACGCCCTCCCTCCCACCACCCTGCCCAGTGCTCCTTGTCGCAAGGTCCGGCTGGGCGGCAGGGCTGAGATGGGGCAGAGGAGGTAGAGGGGCCGGTCAAGGGGGATGACTGACAGGAGCGGGCAGAGGGGATCCCAGCAGTCCAACAGGGAGGCCTCAGTGCTGGCCCTGGCCCTCTGGTGACACCCCCTGCCCACCACTCACCAGGACTTAGACTGGCGGGTCTGCCGCTGATCGCCACATGGTCCTGGCGAGGGGCCTGGCTGCTGGGGCCTGGGCTGCCCAACCCGTGCACAGCCCACCCTGTGTCCCAGCCTGGCTGCGGTGGTGGGGAGCGGAGGCAAACAGCTCACTGTGAAGTGGCTCCCCAGCTCTGCCCTGGGCGTTCCCCGCCCACCCCAGCCTCAGGTGGAAGGATACATGGAGTAGGCACCAAAGTACCACTGGGTGAAGCGCCCAGCTGTGGCCACGATGCCCCCGGTGATGAGGACTGCGGGGAGAAGTGGGTCAGGCACTGTGGGGCTCCCGTCCCGGGGGCCTGGGCCACCCCCCTTCTCTACCTACTGTGGGCCACCAGGCCACCCAGAGCTGCCCCCTACCCATCCCCACAGCACAGTGACAGGGTCGGGGACACCCCCAGGAGGCACCCCTCTGCACTGGTGAAGAGCAGAGCCTGTGGCGCACGGGCTGGCGGAGGGGGTGCTGGACATGCCCGGGCTCTGGGTCCCAGGAGTGGCCAAGGACAGCCCGACCTGCAGGCCCCAGTGGGCTCTGGGACCCCCAAATGGACCCCCTTGTCACCATGAGTCTTTGTTTGATGCACTGAAAGCTAACAGGCCGAGTGTGGTTTCTGCATCTTCTTGGGGGAGTGTCTTTTTCCCCCCGATACGGAGTTCCTCTTAACCCGTCAGCGGTTTTGCCTTAATTTCGGTTTCGTCTGATATGGCTATTTCTGCACATTTTTGGGGGGGTATTGTCCAATATTCCCCCTTACTGTTTTTTTTTTTTTTCGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCTACCTCCGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTACATTTTTATTAGAGACAG
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Task1_train_22996
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The gene CYBA (cytochrome b-245 alpha chain) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
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TGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGTGGGTTGTCTGCTGAGGAGCAGCTGAGCCCGGCAGGGTGAACGGTGCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCCGGAGCCCAGGGCAGGCAGAGGGCATTTCACCCAAGGCCTGGCCAGGCTGCGCCCTGTCCTCCCACCCATCCCTGGCCTCTCAGAGAGATCACTGTATCCCATGGGATGGGCAGCCTTCTAACAGGGTGCAGCAGTCATAAACCAAACGCAGGTGTCGGCAGTTTAAGAAAATGTCTGCGTCCTGGCACCGCCCATGAATCAGCGCGAATAGGGTTTAGGTGAGAAAAGCCTGATAATGGGACCCAAGCGCAGGCACGGTCTTCGGCCGGCTGCGTGACCCCAGGCCAGTCACAGCACCTCCCTGAGCCTCCGCATCTTTGTCTGTAAAGTGGGGACCCCAGTACCCCTCCCAGGGCTGTGGTGCGGGTTAATGAGGAAATGCAAGGAAATGACCCGACACACTAGACACGCCAAAAATGGCAGCAGCAACCGCTGCGTCCCCGCCGTGCTGTGAGCACACGCCCAGGCTCACACTTGCTCCCAGCCTTGGCTCAGCCTACAGAGCCGGCTTCAAGGGCCATGCGTGTCCGAGGGTGTCAGGGCAGGGGCTGGGGATGGGGGTGGCCGGGGCCGACCTCAGAGGGCGCCACTCACCAGTAGGTAGATGCCGCTCGCAATGGCCAGGCAGGCGGTCCCAAGGATGGTGGCCAGCAGGAAGCCGGCGGGCACCGAGAGCCTGGGGGACAGCGGGTGAGAGGCAGGGACACAGAAGGGCACTCAGAAAGGGGAACGGAGCCCCAGGTCTGGGGGCCAAGGCCACAAAGTCTCAGGACAAGGCAGACTGCAGACCCAGGGGACGTGCGCGGACCGGGGCTTGTTTCGGTCCTGGGTGTTCTCAGCCTTGATGTGGACACTAGCGGCTCTGGTGCACTTGCTCGGAGGAAGCAGCCACGTGTGGGTGTCCTGGCCTCAGCCGGCAGTAACCAGCAGACACACAGCACGGAACCCTCCACCCTACCAGGAAGCCCAGGCAAGACCCCCCAGCAGTGCATGCTGACCCCAGACCCTGGCGACGGATCGGAGCTCCTCGGATTTGGAGTGGATCCTTACAAATCCTGCACACTAGACAGCAGACACAGGCCCTGCCAGAGCCAGGGACCCGAATTTTTGTTTGGAAAAACACTGAGGTAAGTGGGGGTGGCTCCTGTCCAGGCAGCCCGGCCGGTGGGACAGTGGGGAGGGTCGGCTCCAAGCCCTCCTGAGCCCTAGAGGGGGTGCGGGACGGGGACTCACAGGAGATGCAGGACGGCCCGAACATAGTAATTCCTGGTAAAGGGCCCGAACAGCTTCACCACGGCGGTCATGTACTTCTGTCCCCTGGGGGAGGGAGGAAGGCGAGACGGCGCGGCTGGGCCTCTCCCACTCGGGACTCCTTTGCTGCCCTGCTGACCACCCCAGGGCACCCAGGCCTCTTTCCTCCCACAAAACACACCGGGCAGGCACCGGCCTTGGTTTACCCACAAGCACCAAAGGGTTGGTTCCGGAGCCTCCAAGTGAGAAACCAAGCTCCACCCAACCCTGTGAGCCCTGCCTGGGCCCCGCAGCCCCCGGAGAGACCCCAGAGCAGGAGGAGACTCACCAGCGCTCCATGGTGGAGCCCTTCTTCCTCTTCCCCCGGGGGTACTCCAGCAGGCACACAAACACGCCCGCCACACTGAAGCCATGTGGTTAAGGAACAGCCCAGCTCAGCCTGAGGGGCCACAGGGAACTCCCTTTACTGAAGACAACACAGAGAGGGGCCCGAGCACGGTGGCTCATGCCTGGAATCCCAGCATTTTGGGAGGCTGAGGCGGGAGGATCACTGGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCTCATCTCTACAAAAAATTTAAAAGCCAGGTGCAGTGGTGTGTGCCTGTGGTCCCAGCTACTCCAGAGGCTGAGGTAAGAGGGTGGCCTGAGCCCAGGTGGAGGCTGCCATGAGTCACAGCTGCACCACTGCACTGCAGCCTGGGGGACAGAGCGAGACCCTGTCTCAAAAAAGGTCGGGGGCAGCCACTGCCTGAGGTCACAGAGCCAGGAGGCAGCCACGGGAGGTTCCAACAGGTCTGGCACTCGGGGCTGCCCACGCCCTCCCTCCCACCACCCTGCCCAGTGCTCCTTGTCGCAAGGTCCGGCTGGGCGGCAGGGCTGAGATGGGGCAGAGGAGGTAGAGGGGCCGGTCAAGGGGGATGACTGACAGGAGCGGGCAGAGGGGATCCCAGCAGTCCAACAGGGAGGCCTCAGTGCTGGCCCTGGCCCTCTGGTGACACCCCCTGCCCACCACTCACCAGGACTTAGACTGGCGGGTCTGCCGCTGATCGCCACATGGTCCTGGCGAGGGGCCTGGCTGCTGGGGCCTGGGCTGCCCAACCCGTGCACAGCCCACCCTGTGTCCCAGCCTGGCTGCGGTGGTGGGGAGCGGAGGCAAACAGCTCACTGTGAAGTGGCTCCCCAGCTCTGCCCTGGGCGTTCCCCGCCCACCCCAGCCTCAGGTGGAAGGATACATGGAGTAGGCACCAAAGTACCACTGGGTGAAGCGCCCAGCTGTGGCCACGATGCCCCCGGTGATGAGGACTGCGGGGAGAAGTGGGTCAGGCACTGTGGGGCTCCCGTCCCGGGGGCCTGGGCCACCCCCCTTCTCTACCTACTGTGGGCCACCAGGCCACCCAGAGCTGCCCCCTACCCATCCCCACAGCACAGTGACAGGGTCGGGGACACCCCCAGGAGGCACCCCTCTGCACTGGTGAAGAGCAGAGCCTGTGGCGCACGGGCTGGCGGAGGGGGTGCTGGACATGCCCGGGCTCTGGGTCCCAGGAGTGGCCAAGGACAGCCCGACCTGCAGGCCCCAGTGGGCTCTGGGACCCCCAAATGGACCCCCTTGTCACCATGAGTCTTTGTTTGATGCACTGAAAGCTAACAGGCCGAGTGTGGTTTCTGCATCTTCTTGGGGGAGTGTCTTTTTCCCCCCGATACGGAGTTCCTCTTAACCCGTCAGCGGTTTTGCCTTAATTTCGGTTTCGTCTGATATGGCTATTTCTGCACATTTTTGGGGGGGTATTGTCCAATATTCCCCCTTACTGTTTTTTTTTTTTTTCGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCTACCTCCGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTACATTTTTATTAGAGACAGGGTTTTCACCAC
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TGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGTGGGTTGTCTGCTGAGGAGCAGCTGAGCCCGGCAGGGTGAACGGTGCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCCGGAGCCCAGGGCAGGCAGAGGGCATTTCACCCAAGGCCTGGCCAGGCTGCGCCCTGTCCTCCCACCCATCCCTGGCCTCTCAGAGAGATCACTGTATCCCATGGGATGGGCAGCCTTCTAACAGGGTGCAGCAGTCATAAACCAAACGCAGGTGTCGGCAGTTTAAGAAAATGTCTGCGTCCTGGCACCGCCCATGAATCAGCGCGAATAGGGTTTAGGTGAGAAAAGCCTGATAATGGGACCCAAGCGCAGGCACGGTCTTCGGCCGGCTGCGTGACCCCAGGCCAGTCACAGCACCTCCCTGAGCCTCCGCATCTTTGTCTGTAAAGTGGGGACCCCAGTACCCCTCCCAGGGCTGTGGTGCGGGTTAATGAGGAAATGCAAGGAAATGACCCGACACACTAGACACGCCAAAAATGGCAGCAGCAACCGCTGCGTCCCCGCCGTGCTGTGAGCACACGCCCAGGCTCACACTTGCTCCCAGCCTTGGCTCAGCCTACAGAGCCGGCTTCAAGGGCCATGCGTGTCCGAGGGTGTCAGGGCAGGGGCTGGGGATGGGGGTGGCCGGGGCCGACCTCAGAGGGCGCCACTCACCAGTAGGTAGATGCCGCTCGCAATGGCCAGGCAGGCGGTCCCAAGGATGGTGGCCAGCAGGAAGCCGGCGGGCACCGAGAGCCTGGGGGACAGCGGGTGAGAGGCAGGGACACAGAAGGGCACTCAGAAAGGGGAACGGAGCCCCAGGTCTGGGGGCCAAGGCCACAAAGTCTCAGGACAAGGCAGACTGCAGACCCAGGGGACGTGCGCGGACCGGGGCTTGTTTCGGTCCTGGGTGTTCTCAGCCTTGATGTGGACACTAGCGGCTCTGGTGCACTTGCTCGGAGGAAGCAGCCACGTGTGGGTGTCCTGGCCTCAGCCGGCAGTAACCAGCAGACACACAGCACGGAACCCTCCACCCTACCAGGAAGCCCAGGCAAGACCCCCCAGCAGTGCATGCTGACCCCAGACCCTGGCGACGGATCGGAGCTCCTCGGATTTGGAGTGGATCCTTACAAATCCTGCACACTAGACAGCAGACACAGGCCCTGCCAGAGCCAGGGACCCGAATTTTTGTTTGGAAAAACACTGAGGTAAGTGGGGGTGGCTCCTGTCCAGGCAGCCCGGCCGGTGGGACAGTGGGGAGGGTCGGCTCCAAGCCCTCCTGAGCCCTAGAGGGGGTGCGGGACGGGGACTCACAGGAGATGCAGGACGGCCTGAACATAGTAATTCCTGGTAAAGGGCCCGAACAGCTTCACCACGGCGGTCATGTACTTCTGTCCCCTGGGGGAGGGAGGAAGGCGAGACGGCGCGGCTGGGCCTCTCCCACTCGGGACTCCTTTGCTGCCCTGCTGACCACCCCAGGGCACCCAGGCCTCTTTCCTCCCACAAAACACACCGGGCAGGCACCGGCCTTGGTTTACCCACAAGCACCAAAGGGTTGGTTCCGGAGCCTCCAAGTGAGAAACCAAGCTCCACCCAACCCTGTGAGCCCTGCCTGGGCCCCGCAGCCCCCGGAGAGACCCCAGAGCAGGAGGAGACTCACCAGCGCTCCATGGTGGAGCCCTTCTTCCTCTTCCCCCGGGGGTACTCCAGCAGGCACACAAACACGCCCGCCACACTGAAGCCATGTGGTTAAGGAACAGCCCAGCTCAGCCTGAGGGGCCACAGGGAACTCCCTTTACTGAAGACAACACAGAGAGGGGCCCGAGCACGGTGGCTCATGCCTGGAATCCCAGCATTTTGGGAGGCTGAGGCGGGAGGATCACTGGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCTCATCTCTACAAAAAATTTAAAAGCCAGGTGCAGTGGTGTGTGCCTGTGGTCCCAGCTACTCCAGAGGCTGAGGTAAGAGGGTGGCCTGAGCCCAGGTGGAGGCTGCCATGAGTCACAGCTGCACCACTGCACTGCAGCCTGGGGGACAGAGCGAGACCCTGTCTCAAAAAAGGTCGGGGGCAGCCACTGCCTGAGGTCACAGAGCCAGGAGGCAGCCACGGGAGGTTCCAACAGGTCTGGCACTCGGGGCTGCCCACGCCCTCCCTCCCACCACCCTGCCCAGTGCTCCTTGTCGCAAGGTCCGGCTGGGCGGCAGGGCTGAGATGGGGCAGAGGAGGTAGAGGGGCCGGTCAAGGGGGATGACTGACAGGAGCGGGCAGAGGGGATCCCAGCAGTCCAACAGGGAGGCCTCAGTGCTGGCCCTGGCCCTCTGGTGACACCCCCTGCCCACCACTCACCAGGACTTAGACTGGCGGGTCTGCCGCTGATCGCCACATGGTCCTGGCGAGGGGCCTGGCTGCTGGGGCCTGGGCTGCCCAACCCGTGCACAGCCCACCCTGTGTCCCAGCCTGGCTGCGGTGGTGGGGAGCGGAGGCAAACAGCTCACTGTGAAGTGGCTCCCCAGCTCTGCCCTGGGCGTTCCCCGCCCACCCCAGCCTCAGGTGGAAGGATACATGGAGTAGGCACCAAAGTACCACTGGGTGAAGCGCCCAGCTGTGGCCACGATGCCCCCGGTGATGAGGACTGCGGGGAGAAGTGGGTCAGGCACTGTGGGGCTCCCGTCCCGGGGGCCTGGGCCACCCCCCTTCTCTACCTACTGTGGGCCACCAGGCCACCCAGAGCTGCCCCCTACCCATCCCCACAGCACAGTGACAGGGTCGGGGACACCCCCAGGAGGCACCCCTCTGCACTGGTGAAGAGCAGAGCCTGTGGCGCACGGGCTGGCGGAGGGGGTGCTGGACATGCCCGGGCTCTGGGTCCCAGGAGTGGCCAAGGACAGCCCGACCTGCAGGCCCCAGTGGGCTCTGGGACCCCCAAATGGACCCCCTTGTCACCATGAGTCTTTGTTTGATGCACTGAAAGCTAACAGGCCGAGTGTGGTTTCTGCATCTTCTTGGGGGAGTGTCTTTTTCCCCCCGATACGGAGTTCCTCTTAACCCGTCAGCGGTTTTGCCTTAATTTCGGTTTCGTCTGATATGGCTATTTCTGCACATTTTTGGGGGGGTATTGTCCAATATTCCCCCTTACTGTTTTTTTTTTTTTTCGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCTACCTCCGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTACATTTTTATTAGAGACAGGGTTTTCACCAC
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Task1_train_22997
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This variant lies on Chromosome 16 and affects the gene CYBA (cytochrome b-245 alpha chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; not provided
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GCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCCGGAGCCCAGGGCAGGCAGAGGGCATTTCACCCAAGGCCTGGCCAGGCTGCGCCCTGTCCTCCCACCCATCCCTGGCCTCTCAGAGAGATCACTGTATCCCATGGGATGGGCAGCCTTCTAACAGGGTGCAGCAGTCATAAACCAAACGCAGGTGTCGGCAGTTTAAGAAAATGTCTGCGTCCTGGCACCGCCCATGAATCAGCGCGAATAGGGTTTAGGTGAGAAAAGCCTGATAATGGGACCCAAGCGCAGGCACGGTCTTCGGCCGGCTGCGTGACCCCAGGCCAGTCACAGCACCTCCCTGAGCCTCCGCATCTTTGTCTGTAAAGTGGGGACCCCAGTACCCCTCCCAGGGCTGTGGTGCGGGTTAATGAGGAAATGCAAGGAAATGACCCGACACACTAGACACGCCAAAAATGGCAGCAGCAACCGCTGCGTCCCCGCCGTGCTGTGAGCACACGCCCAGGCTCACACTTGCTCCCAGCCTTGGCTCAGCCTACAGAGCCGGCTTCAAGGGCCATGCGTGTCCGAGGGTGTCAGGGCAGGGGCTGGGGATGGGGGTGGCCGGGGCCGACCTCAGAGGGCGCCACTCACCAGTAGGTAGATGCCGCTCGCAATGGCCAGGCAGGCGGTCCCAAGGATGGTGGCCAGCAGGAAGCCGGCGGGCACCGAGAGCCTGGGGGACAGCGGGTGAGAGGCAGGGACACAGAAGGGCACTCAGAAAGGGGAACGGAGCCCCAGGTCTGGGGGCCAAGGCCACAAAGTCTCAGGACAAGGCAGACTGCAGACCCAGGGGACGTGCGCGGACCGGGGCTTGTTTCGGTCCTGGGTGTTCTCAGCCTTGATGTGGACACTAGCGGCTCTGGTGCACTTGCTCGGAGGAAGCAGCCACGTGTGGGTGTCCTGGCCTCAGCCGGCAGTAACCAGCAGACACACAGCACGGAACCCTCCACCCTACCAGGAAGCCCAGGCAAGACCCCCCAGCAGTGCATGCTGACCCCAGACCCTGGCGACGGATCGGAGCTCCTCGGATTTGGAGTGGATCCTTACAAATCCTGCACACTAGACAGCAGACACAGGCCCTGCCAGAGCCAGGGACCCGAATTTTTGTTTGGAAAAACACTGAGGTAAGTGGGGGTGGCTCCTGTCCAGGCAGCCCGGCCGGTGGGACAGTGGGGAGGGTCGGCTCCAAGCCCTCCTGAGCCCTAGAGGGGGTGCGGGACGGGGACTCACAGGAGATGCAGGACGGCCCGAACATAGTAATTCCTGGTAAAGGGCCCGAACAGCTTCACCACGGCGGTCATGTACTTCTGTCCCCTGGGGGAGGGAGGAAGGCGAGACGGCGCGGCTGGGCCTCTCCCACTCGGGACTCCTTTGCTGCCCTGCTGACCACCCCAGGGCACCCAGGCCTCTTTCCTCCCACAAAACACACCGGGCAGGCACCGGCCTTGGTTTACCCACAAGCACCAAAGGGTTGGTTCCGGAGCCTCCAAGTGAGAAACCAAGCTCCACCCAACCCTGTGAGCCCTGCCTGGGCCCCGCAGCCCCCGGAGAGACCCCAGAGCAGGAGGAGACTCACCAGCGCTCCATGGTGGAGCCCTTCTTCCTCTTCCCCCGGGGGTACTCCAGCAGGCACACAAACACGCCCGCCACACTGAAGCCATGTGGTTAAGGAACAGCCCAGCTCAGCCTGAGGGGCCACAGGGAACTCCCTTTACTGAAGACAACACAGAGAGGGGCCCGAGCACGGTGGCTCATGCCTGGAATCCCAGCATTTTGGGAGGCTGAGGCGGGAGGATCACTGGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCTCATCTCTACAAAAAATTTAAAAGCCAGGTGCAGTGGTGTGTGCCTGTGGTCCCAGCTACTCCAGAGGCTGAGGTAAGAGGGTGGCCTGAGCCCAGGTGGAGGCTGCCATGAGTCACAGCTGCACCACTGCACTGCAGCCTGGGGGACAGAGCGAGACCCTGTCTCAAAAAAGGTCGGGGGCAGCCACTGCCTGAGGTCACAGAGCCAGGAGGCAGCCACGGGAGGTTCCAACAGGTCTGGCACTCGGGGCTGCCCACGCCCTCCCTCCCACCACCCTGCCCAGTGCTCCTTGTCGCAAGGTCCGGCTGGGCGGCAGGGCTGAGATGGGGCAGAGGAGGTAGAGGGGCCGGTCAAGGGGGATGACTGACAGGAGCGGGCAGAGGGGATCCCAGCAGTCCAACAGGGAGGCCTCAGTGCTGGCCCTGGCCCTCTGGTGACACCCCCTGCCCACCACTCACCAGGACTTAGACTGGCGGGTCTGCCGCTGATCGCCACATGGTCCTGGCGAGGGGCCTGGCTGCTGGGGCCTGGGCTGCCCAACCCGTGCACAGCCCACCCTGTGTCCCAGCCTGGCTGCGGTGGTGGGGAGCGGAGGCAAACAGCTCACTGTGAAGTGGCTCCCCAGCTCTGCCCTGGGCGTTCCCCGCCCACCCCAGCCTCAGGTGGAAGGATACATGGAGTAGGCACCAAAGTACCACTGGGTGAAGCGCCCAGCTGTGGCCACGATGCCCCCGGTGATGAGGACTGCGGGGAGAAGTGGGTCAGGCACTGTGGGGCTCCCGTCCCGGGGGCCTGGGCCACCCCCCTTCTCTACCTACTGTGGGCCACCAGGCCACCCAGAGCTGCCCCCTACCCATCCCCACAGCACAGTGACAGGGTCGGGGACACCCCCAGGAGGCACCCCTCTGCACTGGTGAAGAGCAGAGCCTGTGGCGCACGGGCTGGCGGAGGGGGTGCTGGACATGCCCGGGCTCTGGGTCCCAGGAGTGGCCAAGGACAGCCCGACCTGCAGGCCCCAGTGGGCTCTGGGACCCCCAAATGGACCCCCTTGTCACCATGAGTCTTTGTTTGATGCACTGAAAGCTAACAGGCCGAGTGTGGTTTCTGCATCTTCTTGGGGGAGTGTCTTTTTCCCCCCGATACGGAGTTCCTCTTAACCCGTCAGCGGTTTTGCCTTAATTTCGGTTTCGTCTGATATGGCTATTTCTGCACATTTTTGGGGGGGTATTGTCCAATATTCCCCCTTACTGTTTTTTTTTTTTTTCGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCTACCTCCGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTACATTTTTATTAGAGACAGGGTTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGGAATCCGCCCGCCTTGGCCTCCCAGAGTGTTGGGATTACAGGCATGAGCCACGGCGCCTGGTCCTTCCTACTATTTTATTTCTTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCCCTGTCACCCAGGCTGGAGTTCCGTGGCGTGATCTCAGCTCACTACAACCTCCACCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGCGCGCCTGCCACCATACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCC
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GCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCCGGAGCCCAGGGCAGGCAGAGGGCATTTCACCCAAGGCCTGGCCAGGCTGCGCCCTGTCCTCCCACCCATCCCTGGCCTCTCAGAGAGATCACTGTATCCCATGGGATGGGCAGCCTTCTAACAGGGTGCAGCAGTCATAAACCAAACGCAGGTGTCGGCAGTTTAAGAAAATGTCTGCGTCCTGGCACCGCCCATGAATCAGCGCGAATAGGGTTTAGGTGAGAAAAGCCTGATAATGGGACCCAAGCGCAGGCACGGTCTTCGGCCGGCTGCGTGACCCCAGGCCAGTCACAGCACCTCCCTGAGCCTCCGCATCTTTGTCTGTAAAGTGGGGACCCCAGTACCCCTCCCAGGGCTGTGGTGCGGGTTAATGAGGAAATGCAAGGAAATGACCCGACACACTAGACACGCCAAAAATGGCAGCAGCAACCGCTGCGTCCCCGCCGTGCTGTGAGCACACGCCCAGGCTCACACTTGCTCCCAGCCTTGGCTCAGCCTACAGAGCCGGCTTCAAGGGCCATGCGTGTCCGAGGGTGTCAGGGCAGGGGCTGGGGATGGGGGTGGCCGGGGCCGACCTCAGAGGGCGCCACTCACCAGTAGGTAGATGCCGCTCGCAATGGCCAGGCAGGCGGTCCCAAGGATGGTGGCCAGCAGGAAGCCGGCGGGCACCGAGAGCCTGGGGGACAGCGGGTGAGAGGCAGGGACACAGAAGGGCACTCAGAAAGGGGAACGGAGCCCCAGGTCTGGGGGCCAAGGCCACAAAGTCTCAGGACAAGGCAGACTGCAGACCCAGGGGACGTGCGCGGACCGGGGCTTGTTTCGGTCCTGGGTGTTCTCAGCCTTGATGTGGACACTAGCGGCTCTGGTGCACTTGCTCGGAGGAAGCAGCCACGTGTGGGTGTCCTGGCCTCAGCCGGCAGTAACCAGCAGACACACAGCACGGAACCCTCCACCCTACCAGGAAGCCCAGGCAAGACCCCCCAGCAGTGCATGCTGACCCCAGACCCTGGCGACGGATCGGAGCTCCTCGGATTTGGAGTGGATCCTTACAAATCCTGCACACTAGACAGCAGACACAGGCCCTGCCAGAGCCAGGGACCCGAATTTTTGTTTGGAAAAACACTGAGGTAAGTGGGGGTGGCTCCTGTCCAGGCAGCCCGGCCGGTGGGACAGTGGGGAGGGTCGGCTCCAAGCCCTCCTGAGCCCTAGAGGGGGTGCGGGACGGGGACTCACAGGAGATGCAGGACGGCCCGAACATAGTAATTCCTGGTAAAGGGCCCGAACAGCTTCACCACGGCGGTCATGTACTTCTGTCCCCTGGGGGAGGGAGGAAGGCGAGACGGCGCGGCTGGGCCTCTCCCACTCGGGACTCCTTTGCTGCCCTGCTGACCACCCCAGGGCACCCAGGCCTCTTTCCTCCCACAAAACACACCGGGCAGGCACCGGCCTTGGTTTACCCACAAGCACCAAAGGGTTGGTTCCGGAGCCTCCAAGTGAGAAACCAAGCTCCACCCAACCCTGTGAGCCCTGCCTGGGCCCCGCAGCCCCCGGAGAGACCCCAGAGCAGGAGGAGACTCACCAGCGCTCCATGGTGGAGCCCTTCTTCCTCTTCCCCCGGGGGTACTCCGGCAGGCACACAAACACGCCCGCCACACTGAAGCCATGTGGTTAAGGAACAGCCCAGCTCAGCCTGAGGGGCCACAGGGAACTCCCTTTACTGAAGACAACACAGAGAGGGGCCCGAGCACGGTGGCTCATGCCTGGAATCCCAGCATTTTGGGAGGCTGAGGCGGGAGGATCACTGGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCTCATCTCTACAAAAAATTTAAAAGCCAGGTGCAGTGGTGTGTGCCTGTGGTCCCAGCTACTCCAGAGGCTGAGGTAAGAGGGTGGCCTGAGCCCAGGTGGAGGCTGCCATGAGTCACAGCTGCACCACTGCACTGCAGCCTGGGGGACAGAGCGAGACCCTGTCTCAAAAAAGGTCGGGGGCAGCCACTGCCTGAGGTCACAGAGCCAGGAGGCAGCCACGGGAGGTTCCAACAGGTCTGGCACTCGGGGCTGCCCACGCCCTCCCTCCCACCACCCTGCCCAGTGCTCCTTGTCGCAAGGTCCGGCTGGGCGGCAGGGCTGAGATGGGGCAGAGGAGGTAGAGGGGCCGGTCAAGGGGGATGACTGACAGGAGCGGGCAGAGGGGATCCCAGCAGTCCAACAGGGAGGCCTCAGTGCTGGCCCTGGCCCTCTGGTGACACCCCCTGCCCACCACTCACCAGGACTTAGACTGGCGGGTCTGCCGCTGATCGCCACATGGTCCTGGCGAGGGGCCTGGCTGCTGGGGCCTGGGCTGCCCAACCCGTGCACAGCCCACCCTGTGTCCCAGCCTGGCTGCGGTGGTGGGGAGCGGAGGCAAACAGCTCACTGTGAAGTGGCTCCCCAGCTCTGCCCTGGGCGTTCCCCGCCCACCCCAGCCTCAGGTGGAAGGATACATGGAGTAGGCACCAAAGTACCACTGGGTGAAGCGCCCAGCTGTGGCCACGATGCCCCCGGTGATGAGGACTGCGGGGAGAAGTGGGTCAGGCACTGTGGGGCTCCCGTCCCGGGGGCCTGGGCCACCCCCCTTCTCTACCTACTGTGGGCCACCAGGCCACCCAGAGCTGCCCCCTACCCATCCCCACAGCACAGTGACAGGGTCGGGGACACCCCCAGGAGGCACCCCTCTGCACTGGTGAAGAGCAGAGCCTGTGGCGCACGGGCTGGCGGAGGGGGTGCTGGACATGCCCGGGCTCTGGGTCCCAGGAGTGGCCAAGGACAGCCCGACCTGCAGGCCCCAGTGGGCTCTGGGACCCCCAAATGGACCCCCTTGTCACCATGAGTCTTTGTTTGATGCACTGAAAGCTAACAGGCCGAGTGTGGTTTCTGCATCTTCTTGGGGGAGTGTCTTTTTCCCCCCGATACGGAGTTCCTCTTAACCCGTCAGCGGTTTTGCCTTAATTTCGGTTTCGTCTGATATGGCTATTTCTGCACATTTTTGGGGGGGTATTGTCCAATATTCCCCCTTACTGTTTTTTTTTTTTTTCGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCTACCTCCGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTACATTTTTATTAGAGACAGGGTTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGGAATCCGCCCGCCTTGGCCTCCCAGAGTGTTGGGATTACAGGCATGAGCCACGGCGCCTGGTCCTTCCTACTATTTTATTTCTTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCCCTGTCACCCAGGCTGGAGTTCCGTGGCGTGATCTCAGCTCACTACAACCTCCACCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGCGCGCCTGCCACCATACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCC
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Task1_train_22998
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This gene mutation involves MVD (mevalonate diphosphate decarboxylase) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Porokeratosis 7, multiple types
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CTGGCTTCCTGCCTGAGACACGGTAGGGACAGGGAGCCGCGCTTAGCCTTTAAGGGCCCTGGGGGCTGGGCGGGCCCCCCTGGCAGGAAAGGAAACCCCGGGGTACTGGGTGAGCCCCAGGCCTCACCTGAGTGACAATGATGTATTTGACCCCACCGGGGGTCGGCTCCATGGCCAGCGCAGCCTGAAGCTCAGCTGAGAGAGGGGCCGGCCTCACCTGCAGCCCCTTCAGAAACCTGGAAAAGCAGGGCAGGGGCACGGTGAATGCATCCGTTTCTCTAAGCGTCTACAACAGTCTACAACAGGCAAGTCCAGAGATGGGAAGTGCATTCCTGGCCGTCAGGGCTCAGGGAGGGGGAGACGGCAGGTGGCTGCTGTGGGGACAGGTTTCTTTTAGGGGTGATGAAAAAGTTAAGGAGGTGGCTTGAGGTGGTGCTCACATGACCCTGTGAATGTCCTCAACACCGCAGGATTATATGCTCTCGAATGGCTGAGACAGGAAATTTTAGGTTATGTGGTAAACAGCTATGCCCAGGCTGGACCCACATCTGGCCAAGGGTGCTGCCAAGCCCCATGGGGTAACAGCTCAGGGAAGCGCCCAATTCAAGCTGGTGCGTTCGTCACCGTGTTCTGCAGAACAGCGGAAGCCTGCAAGCCCCACCCGGAGCAGCAGCCACGAGCCTGGTGCTTCCCAGGCGGGCAGTCCTGGGGTGTGGGTCTGAGTCCACCCCACAGGGCAGGCCCCTGACCATTAGAAGGTGTTATTGCTCCCACCCGGGACAGACGCACATCCCCACACGCTTCCAGACACCCTTAAATGGGAGGCGCCTCTCACATTGAGAATAAGACACCATGAAAACACGGGAGGGAAGAAATCAACAGCCCCGGGGCGTAAGGAGGCTGGGCCAAGCTGTGCACCGAGGAGGGCGTACATGGGGGCTCTGTGGCACCCCCACAGAGCAGCGCAGGGGAAGAGGCGGTTCAGGGCCAAGCTGTGCACCGAGGAGGGCGTACATGGGGGCTCTGTGGCGCCAAGATGCAGCTGCCGGACCCCACCCAAGAAAAGACACCCAACTGCCGGGGCGGGGTCAACACCCGGCCGCCTTGACTGGCTCTAACTCGCTTCAGTAAGAAGGAAATCAGGGGCTTTGACTCCTTTCCTTCAAAATGTCGGACACTTACGCACACATCTGGGAGTGCAGGCGTGTTTCCTAAGCCACTGTTCTATAGAATAAGAGCCTGCGGGGTCCCGAGCTGCAGGGGACGCTGTCACTCAGGAGGTGGGAGACCCTGGGCGTTGCTCACACACGCGTGAGCGGCCTCTCTTTCTTCCCTGTGGACGTGGGCTGTGGGATGGCTCTATGGGGACACCCTGCCCGTGGCTCCCACACTCGGGGGACTGCTGCCTGCCCTGGGACTCCCTGTCTCAGCGCCACAGCCTTCAGGTGCCTCCGTCTCTTCCGACCAGAGTTCCTGGCACCATCTCCCAAAAAGGAGGAGGGGCGGGGTCCACACTCACGTGTCTCCATTCGAGCCTGGGGGAAAGCCGTGCCACACAGCAGCCACAAACTCAGCCACAGTGTCGTCCAGGGTGAAGATCACGGCATTGGGGCCCGCGTCAAAGGTGTACGCCACCTGGAACCCACAGCAGTCACCCTGGCTATTCACGTGGTGCCTGACCCTTGTCTCCCCAACCCTCTGGTCTGCCAGGCGGCCTTGGGCTCTCCAAGAGCTCAGTCTAGGCCCTCAGGGCCACACTGGAGTGGAGCTGTGACCCCAAGTGCCTGGTACTTGACACGTCTGCCTGTGAACCCAGGAAGAAGGTGGTGGGGCCGTGACCCGGGCAAGTCAAGAAACAAAATGAAACAGAAGAACCCAGATGGTCAGTGAGCTTCGCACACAGCAGGGTGGAGCTTTCAGACACAGATTGCCCTGCACGCGAGCCCCGGGGCCGTCTCCACGGCAGCACAAGCCTAGACACGCGCTACAGCGCGAGCGCAGCCTCTGCCCTCCCGGCCCGCGTCACCTTGGTGTCCCCGTGGTGGGCGTTGAAGCGGTGCACCAGGTGGATGATGCGCCAGGAGATGGCATTGAGGTAAGAGATGGGCGGGAAGGTGTCGAGGCAGGTGGCGTGGAACTGGTTGCTGTCCTTCATGGTCAGCTGGGCGAAGCTGGGGAAGTCTCGCTCCCGGATGCAGCGGGCCATCTCCGCCATGCGCGCGGGCACCACGGACTCGGCCCGGAACTGCAAGGCACAGGGTGTTTCCCATGGAGCCGCTGGGGGTCTCGACAGCAGAGGGTTCGAGGAGAGACTCCGGGGTTGGAGGCCCGGCTCGAGCCCCATCTCTGCATTTGGCTCCTGCACGTGGTCTTGGCGGGGCTGCCGCAGGTGTGAGAACACTCGGGCCCAGACAGAGGCTGAGGGCAGAGCCGGGCACAAGCGTGACTCCCAGGGCCCCGGGACCACCCGCTCCTGGCCTTACCCGAAGCAGGGGGCTGGTCTCCACACTGGCCCGCATGCCCACGGTACTGCCTGTCAGCTTCTTCTCAGCGCTCACCTGCACGAGGGAGAGACAGCCTGGGCCACACCCTGCAGGGGGCCAGCCCCAAGGACCTCAGCCTCAAACACTCGGCCCTCCCTCAGCCAATGCAGGCAGCGGGGGTGGGAGTCAGTGCCACCTGCCTGACCACAGAGGCCTCCCGGCCACAGCAGGGGTGACGCAGGGGCAACTTCCAGATCCCAGCGGGTGGTGGCGCCCGCCGCATGGGAGCGGTTCCTGAGCACTCAACCACGCTTCTGTTCCTTCAGCCCCCGCTGACCCCAGGAGCCAAGCAAAGCCTGGATGGACGCCTTCGCTCCTGCTCCCGGCAGCAGCCCTGACTAGGGACAGAGGCCACCGGGCTGCTGCTCCACCCGCCCCACCCCACTCACCACAAGGATGAGCACGCGGAGTTCAGGCCAGTGTGACTCGGGGGCCACTTGCCGAGCGATGCTGTCCTTCCCGTCGGCCTGCTCTCCCATCTGCCACTCCACAAAGCCCCCATACAGGCTCCGGCAGGCGCTGCCTGAGCCCCGGCGAGCCACTTCTGAGAGGTCACTCTCCACGCCGTAGACACGGGCCAGGGTGTAGGCTGCAGGCATGCGGATTCAGGGAGGGTCCTCAGAGCTGCCTGCGCTGTGCTCCCTGACAGCTCACCGCCCCAGGAACGTCCCACACCCCACGGCAAATGGGGATTTCCAGATGACAGGGCTTCTGGGCCATCAGCCTTTGAGGCCAGCATTCACCGGCCCAGCCGTCTGTCCCCCACCTCCGCTAGTTCCACTCTCGGACACTCTCTGTTCACGGCCTGCAGAGCTTGCGGCCCGCGACAAGGGCAACAAAAGGTACCTGCGGCAGAGCAGGAAGCCCCATGGAAGGCGGGAGAAAGGCCCCCGAGGACACCCAAGCTGGGCTTTGAGGGTGGGAAGGAATTTTAAGGCTGTGTGGGGCAGGGACCGATGCCAGGACAGAGCTGGACTCCACAAGACGCGCCCCCTGCCCACCCAGCACGGGAGCCACCTTCTCCCCTCCTCCCACAGGGCTCCAGCAGGGCAACCCCACCTCCAGGTCTGGTCACCCACCCTGGTCACCGAGGGTGGTTCAGGGAAGGCGCAGGAGCCCAGGTGGGCCAGGAAGCGTCACCCCTGGAGTTGAGGGGTGAAGATGGTGTGAGACCACCACCGGGGGGACAGGCTCTGACAGTGGGTGGGAAGCTGCCAGCAAGTGGCCTGGGGCCAGCAGAGAGCTGGGTCCAGCGGGGCCTGCAACCAGCTGTGCCCATTGGAATCCTCAGTTACGTGAGCCACAAAATCATCGCTATTTTAGGGCTGAGCCAGTTTGAAGTGGTTTCTATCACTGACAATCTAGAGGGGCTCCACATACAGCAACGGGAAGATTTTTTTATTTTTTGTAGAGATGGGGGGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTACAGTGCTTCTCCCCCATCAGCCTCTTAAGTACTGGGATTACAGGCGAGAGCCCCACGCCAGCTGCAACTGGAAGATGAAAATGTTCAG
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CTGGCTTCCTGCCTGAGACACGGTAGGGACAGGGAGCCGCGCTTAGCCTTTAAGGGCCCTGGGGGCTGGGCGGGCCCCCCTGGCAGGAAAGGAAACCCCGGGGTACTGGGTGAGCCCCAGGCCTCACCTGAGTGACAATGATGTATTTGACCCCACCGGGGGTCGGCTCCATGGCCAGCGCAGCCTGAAGCTCAGCTGAGAGAGGGGCCGGCCTCACCTGCAGCCCCTTCAGAAACCTGGAAAAGCAGGGCAGGGGCACGGTGAATGCATCCGTTTCTCTAAGCGTCTACAACAGTCTACAACAGGCAAGTCCAGAGATGGGAAGTGCATTCCTGGCCGTCAGGGCTCAGGGAGGGGGAGACGGCAGGTGGCTGCTGTGGGGACAGGTTTCTTTTAGGGGTGATGAAAAAGTTAAGGAGGTGGCTTGAGGTGGTGCTCACATGACCCTGTGAATGTCCTCAACACCGCAGGATTATATGCTCTCGAATGGCTGAGACAGGAAATTTTAGGTTATGTGGTAAACAGCTATGCCCAGGCTGGACCCACATCTGGCCAAGGGTGCTGCCAAGCCCCATGGGGTAACAGCTCAGGGAAGCGCCCAATTCAAGCTGGTGCGTTCGTCACCGTGTTCTGCAGAACAGCGGAAGCCTGCAAGCCCCACCCGGAGCAGCAGCCACGAGCCTGGTGCTTCCCAGGCGGGCAGTCCTGGGGTGTGGGTCTGAGTCCACCCCACAGGGCAGGCCCCTGACCATTAGAAGGTGTTATTGCTCCCACCCGGGACAGACGCACATCCCCACACGCTTCCAGACACCCTTAAATGGGAGGCGCCTCTCACATTGAGAATAAGACACCATGAAAACACGGGAGGGAAGAAATCAACAGCCCCGGGGCGTAAGGAGGCTGGGCCAAGCTGTGCACCGAGGAGGGCGTACATGGGGGCTCTGTGGCACCCCCACAGAGCAGCGCAGGGGAAGAGGCGGTTCAGGGCCAAGCTGTGCACCGAGGAGGGCGTACATGGGGGCTCTGTGGCGCCAAGATGCAGCTGCCGGACCCCACCCAAGAAAAGACACCCAACTGCCGGGGCGGGGTCAACACCCGGCCGCCTTGACTGGCTCTAACTCGCTTCAGTAAGAAGGAAATCAGGGGCTTTGACTCCTTTCCTTCAAAATGTCGGACACTTACGCACACATCTGGGAGTGCAGGCGTGTTTCCTAAGCCACTGTTCTATAGAATAAGAGCCTGCGGGGTCCCGAGCTGCAGGGGACGCTGTCACTCAGGAGGTGGGAGACCCTGGGCGTTGCTCACACACGCGTGAGCGGCCTCTCTTTCTTCCCTGTGGACGTGGGCTGTGGGATGGCTCTATGGGGACACCCTGCCCGTGGCTCCCACACTCGGGGGACTGCTGCCTGCCCTGGGACTCCCTGTCTCAGCGCCACAGCCTTCAGGTGCCTCCGTCTCTTCCGACCAGAGTTCCTGGCACCATCTCCCAAAAAGGAGGAGGGGCGGGGTCCACACTCACGTGTCTCCATTCGAGCCTGGGGGAAAGCCGTGCCACACAGCAGCCACAAACTCAGCCACAGTGTCGTCCAGGGTGAAGATCACGGCATTGGGGCCCGCGTCAAAGGTGTACGCCACCTGGAACCCACAGCAGTCACCCTGGCTATTCACGTGGTGCCTGACCCTTGTCTCCCCAACCCTCTGGTCTGCCAGGCGGCCTTGGGCTCTCCAAGAGCTCAGTCTAGGCCCTCAGGGCCACACTGGAGTGGAGCTGTGACCCCAAGTGCCTGGTACTTGACACGTCTGCCTGTGAACCCAGGAAGAAGGTGGTGGGGCCGTGACCCGGGCAAGTCAAGAAACAAAATGAAACAGAAGAACCCAGATGGTCAGTGAGCTTCGCACACAGCAGGGTGGAGCTTTCAGACACAGATTGCCCTGCACGCGAGCCCCGGGGCCGTCTCCACGGCAGCACAAGCCTAGACACGCGCTACAGCGCGAGCGCAGCCTCTGCCCTCCCGGCCCGCGTCACCTTGGTGTCCCCGTGGTGGGCGCTGAAGCGGTGCACCAGGTGGATGATGCGCCAGGAGATGGCATTGAGGTAAGAGATGGGCGGGAAGGTGTCGAGGCAGGTGGCGTGGAACTGGTTGCTGTCCTTCATGGTCAGCTGGGCGAAGCTGGGGAAGTCTCGCTCCCGGATGCAGCGGGCCATCTCCGCCATGCGCGCGGGCACCACGGACTCGGCCCGGAACTGCAAGGCACAGGGTGTTTCCCATGGAGCCGCTGGGGGTCTCGACAGCAGAGGGTTCGAGGAGAGACTCCGGGGTTGGAGGCCCGGCTCGAGCCCCATCTCTGCATTTGGCTCCTGCACGTGGTCTTGGCGGGGCTGCCGCAGGTGTGAGAACACTCGGGCCCAGACAGAGGCTGAGGGCAGAGCCGGGCACAAGCGTGACTCCCAGGGCCCCGGGACCACCCGCTCCTGGCCTTACCCGAAGCAGGGGGCTGGTCTCCACACTGGCCCGCATGCCCACGGTACTGCCTGTCAGCTTCTTCTCAGCGCTCACCTGCACGAGGGAGAGACAGCCTGGGCCACACCCTGCAGGGGGCCAGCCCCAAGGACCTCAGCCTCAAACACTCGGCCCTCCCTCAGCCAATGCAGGCAGCGGGGGTGGGAGTCAGTGCCACCTGCCTGACCACAGAGGCCTCCCGGCCACAGCAGGGGTGACGCAGGGGCAACTTCCAGATCCCAGCGGGTGGTGGCGCCCGCCGCATGGGAGCGGTTCCTGAGCACTCAACCACGCTTCTGTTCCTTCAGCCCCCGCTGACCCCAGGAGCCAAGCAAAGCCTGGATGGACGCCTTCGCTCCTGCTCCCGGCAGCAGCCCTGACTAGGGACAGAGGCCACCGGGCTGCTGCTCCACCCGCCCCACCCCACTCACCACAAGGATGAGCACGCGGAGTTCAGGCCAGTGTGACTCGGGGGCCACTTGCCGAGCGATGCTGTCCTTCCCGTCGGCCTGCTCTCCCATCTGCCACTCCACAAAGCCCCCATACAGGCTCCGGCAGGCGCTGCCTGAGCCCCGGCGAGCCACTTCTGAGAGGTCACTCTCCACGCCGTAGACACGGGCCAGGGTGTAGGCTGCAGGCATGCGGATTCAGGGAGGGTCCTCAGAGCTGCCTGCGCTGTGCTCCCTGACAGCTCACCGCCCCAGGAACGTCCCACACCCCACGGCAAATGGGGATTTCCAGATGACAGGGCTTCTGGGCCATCAGCCTTTGAGGCCAGCATTCACCGGCCCAGCCGTCTGTCCCCCACCTCCGCTAGTTCCACTCTCGGACACTCTCTGTTCACGGCCTGCAGAGCTTGCGGCCCGCGACAAGGGCAACAAAAGGTACCTGCGGCAGAGCAGGAAGCCCCATGGAAGGCGGGAGAAAGGCCCCCGAGGACACCCAAGCTGGGCTTTGAGGGTGGGAAGGAATTTTAAGGCTGTGTGGGGCAGGGACCGATGCCAGGACAGAGCTGGACTCCACAAGACGCGCCCCCTGCCCACCCAGCACGGGAGCCACCTTCTCCCCTCCTCCCACAGGGCTCCAGCAGGGCAACCCCACCTCCAGGTCTGGTCACCCACCCTGGTCACCGAGGGTGGTTCAGGGAAGGCGCAGGAGCCCAGGTGGGCCAGGAAGCGTCACCCCTGGAGTTGAGGGGTGAAGATGGTGTGAGACCACCACCGGGGGGACAGGCTCTGACAGTGGGTGGGAAGCTGCCAGCAAGTGGCCTGGGGCCAGCAGAGAGCTGGGTCCAGCGGGGCCTGCAACCAGCTGTGCCCATTGGAATCCTCAGTTACGTGAGCCACAAAATCATCGCTATTTTAGGGCTGAGCCAGTTTGAAGTGGTTTCTATCACTGACAATCTAGAGGGGCTCCACATACAGCAACGGGAAGATTTTTTTATTTTTTGTAGAGATGGGGGGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTACAGTGCTTCTCCCCCATCAGCCTCTTAAGTACTGGGATTACAGGCGAGAGCCCCACGCCAGCTGCAACTGGAAGATGAAAATGTTCAG
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Task1_train_22999
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The gene MVD (mevalonate diphosphate decarboxylase), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Porokeratosis 7, multiple types
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GAGTGACAATGATGTATTTGACCCCACCGGGGGTCGGCTCCATGGCCAGCGCAGCCTGAAGCTCAGCTGAGAGAGGGGCCGGCCTCACCTGCAGCCCCTTCAGAAACCTGGAAAAGCAGGGCAGGGGCACGGTGAATGCATCCGTTTCTCTAAGCGTCTACAACAGTCTACAACAGGCAAGTCCAGAGATGGGAAGTGCATTCCTGGCCGTCAGGGCTCAGGGAGGGGGAGACGGCAGGTGGCTGCTGTGGGGACAGGTTTCTTTTAGGGGTGATGAAAAAGTTAAGGAGGTGGCTTGAGGTGGTGCTCACATGACCCTGTGAATGTCCTCAACACCGCAGGATTATATGCTCTCGAATGGCTGAGACAGGAAATTTTAGGTTATGTGGTAAACAGCTATGCCCAGGCTGGACCCACATCTGGCCAAGGGTGCTGCCAAGCCCCATGGGGTAACAGCTCAGGGAAGCGCCCAATTCAAGCTGGTGCGTTCGTCACCGTGTTCTGCAGAACAGCGGAAGCCTGCAAGCCCCACCCGGAGCAGCAGCCACGAGCCTGGTGCTTCCCAGGCGGGCAGTCCTGGGGTGTGGGTCTGAGTCCACCCCACAGGGCAGGCCCCTGACCATTAGAAGGTGTTATTGCTCCCACCCGGGACAGACGCACATCCCCACACGCTTCCAGACACCCTTAAATGGGAGGCGCCTCTCACATTGAGAATAAGACACCATGAAAACACGGGAGGGAAGAAATCAACAGCCCCGGGGCGTAAGGAGGCTGGGCCAAGCTGTGCACCGAGGAGGGCGTACATGGGGGCTCTGTGGCACCCCCACAGAGCAGCGCAGGGGAAGAGGCGGTTCAGGGCCAAGCTGTGCACCGAGGAGGGCGTACATGGGGGCTCTGTGGCGCCAAGATGCAGCTGCCGGACCCCACCCAAGAAAAGACACCCAACTGCCGGGGCGGGGTCAACACCCGGCCGCCTTGACTGGCTCTAACTCGCTTCAGTAAGAAGGAAATCAGGGGCTTTGACTCCTTTCCTTCAAAATGTCGGACACTTACGCACACATCTGGGAGTGCAGGCGTGTTTCCTAAGCCACTGTTCTATAGAATAAGAGCCTGCGGGGTCCCGAGCTGCAGGGGACGCTGTCACTCAGGAGGTGGGAGACCCTGGGCGTTGCTCACACACGCGTGAGCGGCCTCTCTTTCTTCCCTGTGGACGTGGGCTGTGGGATGGCTCTATGGGGACACCCTGCCCGTGGCTCCCACACTCGGGGGACTGCTGCCTGCCCTGGGACTCCCTGTCTCAGCGCCACAGCCTTCAGGTGCCTCCGTCTCTTCCGACCAGAGTTCCTGGCACCATCTCCCAAAAAGGAGGAGGGGCGGGGTCCACACTCACGTGTCTCCATTCGAGCCTGGGGGAAAGCCGTGCCACACAGCAGCCACAAACTCAGCCACAGTGTCGTCCAGGGTGAAGATCACGGCATTGGGGCCCGCGTCAAAGGTGTACGCCACCTGGAACCCACAGCAGTCACCCTGGCTATTCACGTGGTGCCTGACCCTTGTCTCCCCAACCCTCTGGTCTGCCAGGCGGCCTTGGGCTCTCCAAGAGCTCAGTCTAGGCCCTCAGGGCCACACTGGAGTGGAGCTGTGACCCCAAGTGCCTGGTACTTGACACGTCTGCCTGTGAACCCAGGAAGAAGGTGGTGGGGCCGTGACCCGGGCAAGTCAAGAAACAAAATGAAACAGAAGAACCCAGATGGTCAGTGAGCTTCGCACACAGCAGGGTGGAGCTTTCAGACACAGATTGCCCTGCACGCGAGCCCCGGGGCCGTCTCCACGGCAGCACAAGCCTAGACACGCGCTACAGCGCGAGCGCAGCCTCTGCCCTCCCGGCCCGCGTCACCTTGGTGTCCCCGTGGTGGGCGTTGAAGCGGTGCACCAGGTGGATGATGCGCCAGGAGATGGCATTGAGGTAAGAGATGGGCGGGAAGGTGTCGAGGCAGGTGGCGTGGAACTGGTTGCTGTCCTTCATGGTCAGCTGGGCGAAGCTGGGGAAGTCTCGCTCCCGGATGCAGCGGGCCATCTCCGCCATGCGCGCGGGCACCACGGACTCGGCCCGGAACTGCAAGGCACAGGGTGTTTCCCATGGAGCCGCTGGGGGTCTCGACAGCAGAGGGTTCGAGGAGAGACTCCGGGGTTGGAGGCCCGGCTCGAGCCCCATCTCTGCATTTGGCTCCTGCACGTGGTCTTGGCGGGGCTGCCGCAGGTGTGAGAACACTCGGGCCCAGACAGAGGCTGAGGGCAGAGCCGGGCACAAGCGTGACTCCCAGGGCCCCGGGACCACCCGCTCCTGGCCTTACCCGAAGCAGGGGGCTGGTCTCCACACTGGCCCGCATGCCCACGGTACTGCCTGTCAGCTTCTTCTCAGCGCTCACCTGCACGAGGGAGAGACAGCCTGGGCCACACCCTGCAGGGGGCCAGCCCCAAGGACCTCAGCCTCAAACACTCGGCCCTCCCTCAGCCAATGCAGGCAGCGGGGGTGGGAGTCAGTGCCACCTGCCTGACCACAGAGGCCTCCCGGCCACAGCAGGGGTGACGCAGGGGCAACTTCCAGATCCCAGCGGGTGGTGGCGCCCGCCGCATGGGAGCGGTTCCTGAGCACTCAACCACGCTTCTGTTCCTTCAGCCCCCGCTGACCCCAGGAGCCAAGCAAAGCCTGGATGGACGCCTTCGCTCCTGCTCCCGGCAGCAGCCCTGACTAGGGACAGAGGCCACCGGGCTGCTGCTCCACCCGCCCCACCCCACTCACCACAAGGATGAGCACGCGGAGTTCAGGCCAGTGTGACTCGGGGGCCACTTGCCGAGCGATGCTGTCCTTCCCGTCGGCCTGCTCTCCCATCTGCCACTCCACAAAGCCCCCATACAGGCTCCGGCAGGCGCTGCCTGAGCCCCGGCGAGCCACTTCTGAGAGGTCACTCTCCACGCCGTAGACACGGGCCAGGGTGTAGGCTGCAGGCATGCGGATTCAGGGAGGGTCCTCAGAGCTGCCTGCGCTGTGCTCCCTGACAGCTCACCGCCCCAGGAACGTCCCACACCCCACGGCAAATGGGGATTTCCAGATGACAGGGCTTCTGGGCCATCAGCCTTTGAGGCCAGCATTCACCGGCCCAGCCGTCTGTCCCCCACCTCCGCTAGTTCCACTCTCGGACACTCTCTGTTCACGGCCTGCAGAGCTTGCGGCCCGCGACAAGGGCAACAAAAGGTACCTGCGGCAGAGCAGGAAGCCCCATGGAAGGCGGGAGAAAGGCCCCCGAGGACACCCAAGCTGGGCTTTGAGGGTGGGAAGGAATTTTAAGGCTGTGTGGGGCAGGGACCGATGCCAGGACAGAGCTGGACTCCACAAGACGCGCCCCCTGCCCACCCAGCACGGGAGCCACCTTCTCCCCTCCTCCCACAGGGCTCCAGCAGGGCAACCCCACCTCCAGGTCTGGTCACCCACCCTGGTCACCGAGGGTGGTTCAGGGAAGGCGCAGGAGCCCAGGTGGGCCAGGAAGCGTCACCCCTGGAGTTGAGGGGTGAAGATGGTGTGAGACCACCACCGGGGGGACAGGCTCTGACAGTGGGTGGGAAGCTGCCAGCAAGTGGCCTGGGGCCAGCAGAGAGCTGGGTCCAGCGGGGCCTGCAACCAGCTGTGCCCATTGGAATCCTCAGTTACGTGAGCCACAAAATCATCGCTATTTTAGGGCTGAGCCAGTTTGAAGTGGTTTCTATCACTGACAATCTAGAGGGGCTCCACATACAGCAACGGGAAGATTTTTTTATTTTTTGTAGAGATGGGGGGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTACAGTGCTTCTCCCCCATCAGCCTCTTAAGTACTGGGATTACAGGCGAGAGCCCCACGCCAGCTGCAACTGGAAGATGAAAATGTTCAGATGTGCTCTGGGAAGAGACTGAACAACTCCAGAGAGGCCAGGGAGGCCTGGGGTGAGGGGATGCTCTTTTAGCCACGCCCAGCAGTGGGCTCCCTGACCCGGGAAGAGCATGAAGTGGCTCCTGCGCCC
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GAGTGACAATGATGTATTTGACCCCACCGGGGGTCGGCTCCATGGCCAGCGCAGCCTGAAGCTCAGCTGAGAGAGGGGCCGGCCTCACCTGCAGCCCCTTCAGAAACCTGGAAAAGCAGGGCAGGGGCACGGTGAATGCATCCGTTTCTCTAAGCGTCTACAACAGTCTACAACAGGCAAGTCCAGAGATGGGAAGTGCATTCCTGGCCGTCAGGGCTCAGGGAGGGGGAGACGGCAGGTGGCTGCTGTGGGGACAGGTTTCTTTTAGGGGTGATGAAAAAGTTAAGGAGGTGGCTTGAGGTGGTGCTCACATGACCCTGTGAATGTCCTCAACACCGCAGGATTATATGCTCTCGAATGGCTGAGACAGGAAATTTTAGGTTATGTGGTAAACAGCTATGCCCAGGCTGGACCCACATCTGGCCAAGGGTGCTGCCAAGCCCCATGGGGTAACAGCTCAGGGAAGCGCCCAATTCAAGCTGGTGCGTTCGTCACCGTGTTCTGCAGAACAGCGGAAGCCTGCAAGCCCCACCCGGAGCAGCAGCCACGAGCCTGGTGCTTCCCAGGCGGGCAGTCCTGGGGTGTGGGTCTGAGTCCACCCCACAGGGCAGGCCCCTGACCATTAGAAGGTGTTATTGCTCCCACCCGGGACAGACGCACATCCCCACACGCTTCCAGACACCCTTAAATGGGAGGCGCCTCTCACATTGAGAATAAGACACCATGAAAACACGGGAGGGAAGAAATCAACAGCCCCGGGGCGTAAGGAGGCTGGGCCAAGCTGTGCACCGAGGAGGGCGTACATGGGGGCTCTGTGGCACCCCCACAGAGCAGCGCAGGGGAAGAGGCGGTTCAGGGCCAAGCTGTGCACCGAGGAGGGCGTACATGGGGGCTCTGTGGCGCCAAGATGCAGCTGCCGGACCCCACCCAAGAAAAGACACCCAACTGCCGGGGCGGGGTCAACACCCGGCCGCCTTGACTGGCTCTAACTCGCTTCAGTAAGAAGGAAATCAGGGGCTTTGACTCCTTTCCTTCAAAATGTCGGACACTTACGCACACATCTGGGAGTGCAGGCGTGTTTCCTAAGCCACTGTTCTATAGAATAAGAGCCTGCGGGGTCCCGAGCTGCAGGGGACGCTGTCACTCAGGAGGTGGGAGACCCTGGGCGTTGCTCACACACGCGTGAGCGGCCTCTCTTTCTTCCCTGTGGACGTGGGCTGTGGGATGGCTCTATGGGGACACCCTGCCCGTGGCTCCCACACTCGGGGGACTGCTGCCTGCCCTGGGACTCCCTGTCTCAGCGCCACAGCCTTCAGGTGCCTCCGTCTCTTCCGACCAGAGTTCCTGGCACCATCTCCCAAAAAGGAGGAGGGGCGGGGTCCACACTCACGTGTCTCCATTCGAGCCTGGGGGAAAGCCGTGCCACACAGCAGCCACAAACTCAGCCACAGTGTCGTCCAGGGTGAAGATCACGGCATTGGGGCCCGCGTCAAAGGTGTACGCCACCTGGAACCCACAGCAGTCACCCTGGCTATTCACGTGGTGCCTGACCCTTGTCTCCCCAACCCTCTGGTCTGCCAGGCGGCCTTGGGCTCTCCAAGAGCTCAGTCTAGGCCCTCAGGGCCACACTGGAGTGGAGCTGTGACCCCAAGTGCCTGGTACTTGACACGTCTGCCTGTGAACCCAGGAAGAAGGTGGTGGGGCCGTGACCCGGGCAAGTCAAGAAACAAAATGAAACAGAAGAACCCAGATGGTCAGTGAGCTTCGCACACAGCAGGGTGGAGCTTTCAGACACAGATTGCCCTGCACGCGAGCCCCGGGGCCGTCTCCACGGCAGCACAAGCCTAGACACGCGCTACAGCGCGAGCGCAGCCTCTGCCCTCCCGGCCCGCGTCACCTTGGTGTCCCCGTGGTGGGCGTTGAAGCGGTGCACCAGGTGGATGATGCGCCAGGAGATGGCATTGAGGTAAGAGATGGGCGGGAAGGTGTCGAGGCAGGTGGCGTGGAACTGGTTGCTGTCCTTCATGGTCAGCTGGGCGAAGCTGGGGGAGTCTCGCTCCCGGATGCAGCGGGCCATCTCCGCCATGCGCGCGGGCACCACGGACTCGGCCCGGAACTGCAAGGCACAGGGTGTTTCCCATGGAGCCGCTGGGGGTCTCGACAGCAGAGGGTTCGAGGAGAGACTCCGGGGTTGGAGGCCCGGCTCGAGCCCCATCTCTGCATTTGGCTCCTGCACGTGGTCTTGGCGGGGCTGCCGCAGGTGTGAGAACACTCGGGCCCAGACAGAGGCTGAGGGCAGAGCCGGGCACAAGCGTGACTCCCAGGGCCCCGGGACCACCCGCTCCTGGCCTTACCCGAAGCAGGGGGCTGGTCTCCACACTGGCCCGCATGCCCACGGTACTGCCTGTCAGCTTCTTCTCAGCGCTCACCTGCACGAGGGAGAGACAGCCTGGGCCACACCCTGCAGGGGGCCAGCCCCAAGGACCTCAGCCTCAAACACTCGGCCCTCCCTCAGCCAATGCAGGCAGCGGGGGTGGGAGTCAGTGCCACCTGCCTGACCACAGAGGCCTCCCGGCCACAGCAGGGGTGACGCAGGGGCAACTTCCAGATCCCAGCGGGTGGTGGCGCCCGCCGCATGGGAGCGGTTCCTGAGCACTCAACCACGCTTCTGTTCCTTCAGCCCCCGCTGACCCCAGGAGCCAAGCAAAGCCTGGATGGACGCCTTCGCTCCTGCTCCCGGCAGCAGCCCTGACTAGGGACAGAGGCCACCGGGCTGCTGCTCCACCCGCCCCACCCCACTCACCACAAGGATGAGCACGCGGAGTTCAGGCCAGTGTGACTCGGGGGCCACTTGCCGAGCGATGCTGTCCTTCCCGTCGGCCTGCTCTCCCATCTGCCACTCCACAAAGCCCCCATACAGGCTCCGGCAGGCGCTGCCTGAGCCCCGGCGAGCCACTTCTGAGAGGTCACTCTCCACGCCGTAGACACGGGCCAGGGTGTAGGCTGCAGGCATGCGGATTCAGGGAGGGTCCTCAGAGCTGCCTGCGCTGTGCTCCCTGACAGCTCACCGCCCCAGGAACGTCCCACACCCCACGGCAAATGGGGATTTCCAGATGACAGGGCTTCTGGGCCATCAGCCTTTGAGGCCAGCATTCACCGGCCCAGCCGTCTGTCCCCCACCTCCGCTAGTTCCACTCTCGGACACTCTCTGTTCACGGCCTGCAGAGCTTGCGGCCCGCGACAAGGGCAACAAAAGGTACCTGCGGCAGAGCAGGAAGCCCCATGGAAGGCGGGAGAAAGGCCCCCGAGGACACCCAAGCTGGGCTTTGAGGGTGGGAAGGAATTTTAAGGCTGTGTGGGGCAGGGACCGATGCCAGGACAGAGCTGGACTCCACAAGACGCGCCCCCTGCCCACCCAGCACGGGAGCCACCTTCTCCCCTCCTCCCACAGGGCTCCAGCAGGGCAACCCCACCTCCAGGTCTGGTCACCCACCCTGGTCACCGAGGGTGGTTCAGGGAAGGCGCAGGAGCCCAGGTGGGCCAGGAAGCGTCACCCCTGGAGTTGAGGGGTGAAGATGGTGTGAGACCACCACCGGGGGGACAGGCTCTGACAGTGGGTGGGAAGCTGCCAGCAAGTGGCCTGGGGCCAGCAGAGAGCTGGGTCCAGCGGGGCCTGCAACCAGCTGTGCCCATTGGAATCCTCAGTTACGTGAGCCACAAAATCATCGCTATTTTAGGGCTGAGCCAGTTTGAAGTGGTTTCTATCACTGACAATCTAGAGGGGCTCCACATACAGCAACGGGAAGATTTTTTTATTTTTTGTAGAGATGGGGGGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTACAGTGCTTCTCCCCCATCAGCCTCTTAAGTACTGGGATTACAGGCGAGAGCCCCACGCCAGCTGCAACTGGAAGATGAAAATGTTCAGATGTGCTCTGGGAAGAGACTGAACAACTCCAGAGAGGCCAGGGAGGCCTGGGGTGAGGGGATGCTCTTTTAGCCACGCCCAGCAGTGGGCTCCCTGACCCGGGAAGAGCATGAAGTGGCTCCTGCGCCC
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Subsets and Splits
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