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_600
|
Here is a mutation in SELENON (selenoprotein N) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Eichsfeld type congenital muscular dystrophy
|
CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACC
|
CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCAAGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACC
|
Task1_train_601
|
This alteration in SELENON (selenoprotein N) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Eichsfeld type congenital muscular dystrophy
|
CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACC
|
CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCACGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACC
|
Task1_train_602
|
Chromosome 1 houses a mutation in gene SELENON (selenoprotein N). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Eichsfeld type congenital muscular dystrophy
|
CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACC
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CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCAGGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACC
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Task1_train_603
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The gene SELENON (selenoprotein N) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Eichsfeld type congenital muscular dystrophy
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TCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGTGCTGGGGCTCCCTCGTGCGGCGGATCTGCAGATTGCACTGCTCGGCTCAGATTTCCTGCTGCCCGCCAGAGGCCTGTGCAGGGACCACGGTGCTCGTTTTCATTCCTGCCCCACCCTGTGACCCGCCTTGAGGCACTG
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TCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGAAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGTGCTGGGGCTCCCTCGTGCGGCGGATCTGCAGATTGCACTGCTCGGCTCAGATTTCCTGCTGCCCGCCAGAGGCCTGTGCAGGGACCACGGTGCTCGTTTTCATTCCTGCCCCACCCTGTGACCCGCCTTGAGGCACTG
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Task1_train_604
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The gene SLC30A2 (solute carrier family 30 member 2) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Zinc deficiency, transient neonatal
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GTCACTGTCAGTTCACTCCATCATGTCACAGATGGGGAAACTGAGGCCTCTGAACAAAGACCCCGAAAGAGACACCCATTGTCTCTAACTGAGACCAATTTCAGACTTGGGTTCTGCCCCTAGGGACAGCTACTCCTGCAACAACTGGCCTCTTCCCGCCCCACTTCAGGTATGAAGCCACCAAGGCTAGTCCCTGACATGTATCAGGGAGTGGGTAGAGTGGATGAAGACTCCGATTTACAGCTCCCAGTGTTCTTGGCCTAGGCCTAAGGTAGGACCCAGGTGTTCCAGGTGCCAGAGCTCAGACCATTAGGGAAGTTCTGTCCCTGTAGCGTATGCTGGAAAGTGGCACAGTCTCTTTCCGCAAAGCAGACATAGGTGTGGGTGTGAGAGGCGGGAGGAGGAGGGGAGACGAGGGAAACTGGGGCCCCACTCACATGATGTTCACAGCCACAGCGCAGCCCGACGTGATCAGCATGGTCCCCCCGTCAATTTCATAGTCCCCAGAGATCAGCCGCTCCACAGCCAGGTACACCAGTACCCCCGTCACGACCCAGATGGACAGTACAGAGACCAGGGCTCCCAAGATCTCTGAGGAAGAACCCAACCCCAACACCCACCTTGGCATGGGCCTGGAGCTAAGGAGTCTTCCCCCTTCCTTCAGGATCCTCCCCACCCACCTCCCACACAAAGTCAGGGCCTGGGTCCCACTGGGCTCTGCTGAAGGTATGGCCGGTATGGCTGCCCCTTACCCCACCCCTCATATATCTAGGAATGTAAGAGCTAGAAGGAACTAATAAGTCATCATCTGAGTCCACCTTTTTGGTTGTACATGTAAAGAAGCTGACTTATTAAAGTATGTGCCTTTTGTTCAGCTAGTAAACTGAGGCTTCTGGGGAAGACAGGCTGGGCCATCTCCCACAAAGAGGAAGGTGACGATGCAGTCCAGGGTGAACGGAAGAGAGGTTAAAGCCTATATCTTCCAGCAGCCTTTGCTGGCCTTCCCCTCCCCCCAGAGCTGATCCACAGAGTTATGTGCAGTGTTAATGCCATTGTCATTTGTTCTTGAAGCTTGGCTACTGCACTTCTTAGGAAGGTCAACTTTGCTTCCCTGCAGACTGAGAGCTCCTGGATGACTGGGACCAGGGCTCCCCCATCAGACTAGGATTTCCCAGAGGACAGAGGCCATGGTTGACATCCTCTTCCCCCATCCAGATCACCCTCCTGGCCTCACTCAGGGGAGGAAGGGGGGATCCACCCATTACAGCCACCTAAGAACCCCTGTTCTAACCCACCCTCTCTCTCAACCCCATCTCCAGCCAAACCGCGATCCTCACCAGCTCTCTGCCAGCCAAAGTTCATGGTCTTGGTGGCTGGCCGGGAGGACATCCAGAGGGAGAAGAGGCTGATGAGCATGCTGGCAAAGTCAGTGAGCAGGTGTGCTGCGTCAGTCATGACAGCCAAGCTGTGTGCCAGGTACCCACCTGCAGGGTGGAGGGTCCTTATCAGCTCCCCCAGAGAGCTGGCTCCCAAGACTGTGTGTGCAGCAGGGAGACCACAGGCTCTGGAAGAGGACATTCTGGGCTCAAGATCTCTCTACCCATGAGCTGTACCACCGTGACAAGTGACCTACTCTCTCTGAGCCTCAACTTCCACTCTCTGTGAAATGGGCCACCAATATCTACTTAGAGGGTGAATGTGCACATCAAGTTCAAATAGGGACTGGAAAACATAGCAGATACTCAGTAAATGCTCTTCCCTTCTAGGAATTCAGGCCTTCCCTTAGCTACGAGTTGTGCGTGATCTTTGGCAAGTTACTTCACCTGAACATGCCTCAGTTTCATCATCTGTAAAGTAAGGAGAATAACGTCACCCATGTGAGAACACAGGTTGTTGTTAGACCTGCATCAGATAATGTGTATATAAAGGCTTACTGTAGTGTGTGTTCAGTAATTGGGGCTTTTAGTGTCAGTATTGCTGGGAACATCCAGTCTATCCATGCACCAACTTCATTTAATTAGCCCAAAAGTGCTTACCAACGACTTCTCCGATCATGAACAACAGGCAGATGGCAGAGGCTACATACAGCTGGCGCTGGGCCTTCCCCTTCTTGGGGTCACAGTGACTGTCAGGACCCTTCTGAGCATGGCAGTGATGGTTGCTCTGGGCAGCCAGCTCAATGGCCTGCAAGTCCAGGCCAGGTCGGGGCAGAGGAATCCAGCCAGCCCCTTCCTGCCACAGAGATCCCGTGTATGACCTGGCCAGAGGGGAAGAGAGGGAACGCTCAGCTCTGAGATGAGGTAAGGAGGGCCGACTCTAGTCCCATTTCTCTGTGAGGCCTTGTGTCCACTGGGAAAAATAGCTAAGGACGCTCCGAGCTCGACAAACCAGAGGTGAGAAGCCTGTATTCAGACGGGGATGATAGGGGAATGGGAGTCCTGGGGCCCGGGGCCCTTCAGAGGCCAGAGGAGGTGAAGACCCTGGGAACCGGCCAAGGGGCGTGCTGTCCAGTGGAGCGCGGGGAAGGAACAGAGCGCAGGCTCTGGGAGAACAGCAGGCCCCCTCCAGCGCACTTGGGACACAGGGCCTCCCCGGGGCGGGGCTGCCTGGGGCAAAGTGCTGGGCGGGGCGGGACTCCAGGCATGGGAACCGCCAATCCCCCGGCCCCAGGCCCCCCGCGGGCAGGGGTCAGAATCTGGGCTGCGCCCCAAGGGAGAGACGGTCCTTGGGCCACAGCCCATTATCTTCGTTCCCTCACCTCACCCCACCCCTCCTGCATGGTCCCAGCTCAAGCCGCAGCCAAAACCAACCACTGCTAGGATGGCAAATGCGGAGGTGCGTCGGCTGCCGCCAAAATTCCCGCCCGTCCCCAGGCTCTCGCCTTACCGGATTGCCGGCCTGGCGTCCAACAGATGCTGCTTCTCCTTGGCCTCCATGCAGTCCCGCGCCGAGTCCCGGCAGCCGCGCAGCCGCCCCGCCGAGTGCGCCCTGAAAGTTGCGCGCGGGACTCCGGGTGGCGCTCACCCACCTGCCCCGAGGGCCCCGCGAGGTGCGCTCACTCCGGCCCGGCTCCTGCGGCCCCTGAGCTCCCCCGGCTCCCGCTGCGGCTGCAGCTCCGGCTCTGGCTCCGCGTGCCAAGCGCTCCCGTGTCTCGGGTCAGCCGCTGCGCCCCGCGGCCGCCGGCTTTATCCGGCCCTCGCCAACCCGTGTGAAGCTGCCGTCGGCGCGTCGTGTGCAAAAGCCCGCGGGGAAGGGGGGGCGGTCGCCGGCTGCAAAAGGCCCGGCTGTGGCCCCGCACACCTGTGCCTGCGCCCATGGGGCCCGCGGAGCCCACCTGCCGGCCGCGAGAAGTTTGCCAGCCTTCGCCCGGCGCGGCGCCGGGTGTTGCTGAGTGAGGACGGGGTGACGCCTGCGCCCCCTCTCCCGCGCGGGGTGCGCCGCCTCGCCGCCGAAAAGTTCTCGACTTTAGTTTGTAGAAATCCGCTTTGGTGGTCCCGACGGCAGGAATGTGGCTCCTTGCCTCGGAAGAGGGTCTCCAGAGGCTACTGGGGCCGCGTCTGCCCCCTCCGACTGGCGGCTGCCCTGGGCTTGATCATGTTCCCCTCTCAGGCCGGAGACCCCCCGAGGTCGGCTTGCGTTCCTGTCCTCCTGCTAGGAGGGTCCTGGGGTGGGGTGGGCTGCGCCGCCCTCAGGCTGGGGCAGTGTCTCTCCCTAGGACCGGCTGGGACTGATCGACCCATCCTCGCCACTGAAGCAGCGCCAGCTCCTCCTCTCCTGCGCGCAGGAGAATCTGGAGTGGCCGGCTTTGTCTCCACCCGCACAGAGAACAGTGTCATCGGCAGTCACCATCGGAGCAGAGACGACCACTGCCACTGCTGCCACCCCTTCTCCCCTCCCCCGCAGCGGCTCCTGGGAGCCCCAGGAAGCCTGACAAGCAAGCCTGGGAGATGCAGGCCGGAGGTGCCACCGTGTTGGTACCGCTGGGAGAAGCCCTGTCCTTCCTGGCCAGCTTGGTGCCCCACCCACTTGAAGCAGCCTCCTTCCCTGGCGGTTCTTGGGGATTGGGGAGCCTGTGGCCCCCACGCTGGCCTCTGAC
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GTCACTGTCAGTTCACTCCATCATGTCACAGATGGGGAAACTGAGGCCTCTGAACAAAGACCCCGAAAGAGACACCCATTGTCTCTAACTGAGACCAATTTCAGACTTGGGTTCTGCCCCTAGGGACAGCTACTCCTGCAACAACTGGCCTCTTCCCGCCCCACTTCAGGTATGAAGCCACCAAGGCTAGTCCCTGACATGTATCAGGGAGTGGGTAGAGTGGATGAAGACTCCGATTTACAGCTCCCAGTGTTCTTGGCCTAGGCCTAAGGTAGGACCCAGGTGTTCCAGGTGCCAGAGCTCAGACCATTAGGGAAGTTCTGTCCCTGTAGCGTATGCTGGAAAGTGGCACAGTCTCTTTCCGCAAAGCAGACATAGGTGTGGGTGTGAGAGGCGGGAGGAGGAGGGGAGACGAGGGAAACTGGGGCCCCACTCACATGATGTTCACAGCCACAGCGCAGCCCGACGTGATCAGCATGGTCCCCCCGTCAATTTCATAGTCCCCAGAGATCAGCCGCTCCACAGCCAGGTACACCAGTACCCCCGTCACGACCCAGATGGACAGTACAGAGACCAGGGCTCCCAAGATCTCTGAGGAAGAACCCAACCCCAACACCCACCTTGGCATGGGCCTGGAGCTAAGGAGTCTTCCCCCTTCCTTCAGGATCCTCCCCACCCACCTCCCACACAAAGTCAGGGCCTGGGTCCCACTGGGCTCTGCTGAAGGTATGGCCGGTATGGCTGCCCCTTACCCCACCCCTCATATATCTAGGAATGTAAGAGCTAGAAGGAACTAATAAGTCATCATCTGAGTCCACCTTTTTGGTTGTACATGTAAAGAAGCTGACTTATTAAAGTATGTGCCTTTTGTTCAGCTAGTAAACTGAGGCTTCTGGGGAAGACAGGCTGGGCCATCTCCCACAAAGAGGAAGGTGACGATGCAGTCCAGGGTGAACGGAAGAGAGGTTAAAGCCTATATCTTCCAGCAGCCTTTGCTGGCCTTCCCCTCCCCCCAGAGCTGATCCACAGAGTTATGTGCAGTGTTAATGCCATTGTCATTTGTTCTTGAAGCTTGGCTACTGCACTTCTTAGGAAGGTCAACTTTGCTTCCCTGCAGACTGAGAGCTCCTGGATGACTGGGACCAGGGCTCCCCCATCAGACTAGGATTTCCCAGAGGACAGAGGCCATGGTTGACATCCTCTTCCCCCATCCAGATCACCCTCCTGGCCTCACTCAGGGGAGGAAGGGGGGATCCACCCATTACAGCCACCTAAGAACCCCTGTTCTAACCCACCCTCTCTCTCAACCCCATCTCCAGCCAAACCGCGATCCTCACCAGCTCTCTGCCAGCCAAAGTTCATGGTCTTGGTGGCTGGCCGGGAGGACATCCAGAGGGAGAAGAGGCTGATGAGCATGCTGGCAAAGTCAGTGAGCAGGTGTGCTGCGTCAGTCATGACAGCCAAGCTGTGTGCCAGGTACCCACCTGCAGGGTGGAGGGTCCTTATCAGCTCCCCCAGAGAGCTGGCTCCCAAGACTGTGTGTGCAGCAGGGAGACCACAGGCTCTGGAAGAGGACATTCTGGGCTCAAGATCTCTCTACCCATGAGCTGTACCACCGTGACAAGTGACCTACTCTCTCTGAGCCTCAACTTCCACTCTCTGTGAAATGGGCCACCAATATCTACTTAGAGGGTGAATGTGCACATCAAGTTCAAATAGGGACTGGAAAACATAGCAGATACTCAGTAAATGCTCTTCCCTTCTAGGAATTCAGGCCTTCCCTTAGCTACGAGTTGTGCGTGATCTTTGGCAAGTTACTTCACCTGAACATGCCTCAGTTTCATCATCTGTAAAGTAAGGAGAATAACGTCACCCATGTGAGAACACAGGTTGTTGTTAGACCTGCATCAGATAATGTGTATATAAAGGCTTACTGTAGTGTGTGTTCAGTAATTGGGGCTTTTAGTGTCAGTATTGCTGGGAACATCCAGTCTATCCATGCACCAACTTCATTTAATTAGCCCAAAAGTGCTTACCAACGACTTCTCTGATCATGAACAACAGGCAGATGGCAGAGGCTACATACAGCTGGCGCTGGGCCTTCCCCTTCTTGGGGTCACAGTGACTGTCAGGACCCTTCTGAGCATGGCAGTGATGGTTGCTCTGGGCAGCCAGCTCAATGGCCTGCAAGTCCAGGCCAGGTCGGGGCAGAGGAATCCAGCCAGCCCCTTCCTGCCACAGAGATCCCGTGTATGACCTGGCCAGAGGGGAAGAGAGGGAACGCTCAGCTCTGAGATGAGGTAAGGAGGGCCGACTCTAGTCCCATTTCTCTGTGAGGCCTTGTGTCCACTGGGAAAAATAGCTAAGGACGCTCCGAGCTCGACAAACCAGAGGTGAGAAGCCTGTATTCAGACGGGGATGATAGGGGAATGGGAGTCCTGGGGCCCGGGGCCCTTCAGAGGCCAGAGGAGGTGAAGACCCTGGGAACCGGCCAAGGGGCGTGCTGTCCAGTGGAGCGCGGGGAAGGAACAGAGCGCAGGCTCTGGGAGAACAGCAGGCCCCCTCCAGCGCACTTGGGACACAGGGCCTCCCCGGGGCGGGGCTGCCTGGGGCAAAGTGCTGGGCGGGGCGGGACTCCAGGCATGGGAACCGCCAATCCCCCGGCCCCAGGCCCCCCGCGGGCAGGGGTCAGAATCTGGGCTGCGCCCCAAGGGAGAGACGGTCCTTGGGCCACAGCCCATTATCTTCGTTCCCTCACCTCACCCCACCCCTCCTGCATGGTCCCAGCTCAAGCCGCAGCCAAAACCAACCACTGCTAGGATGGCAAATGCGGAGGTGCGTCGGCTGCCGCCAAAATTCCCGCCCGTCCCCAGGCTCTCGCCTTACCGGATTGCCGGCCTGGCGTCCAACAGATGCTGCTTCTCCTTGGCCTCCATGCAGTCCCGCGCCGAGTCCCGGCAGCCGCGCAGCCGCCCCGCCGAGTGCGCCCTGAAAGTTGCGCGCGGGACTCCGGGTGGCGCTCACCCACCTGCCCCGAGGGCCCCGCGAGGTGCGCTCACTCCGGCCCGGCTCCTGCGGCCCCTGAGCTCCCCCGGCTCCCGCTGCGGCTGCAGCTCCGGCTCTGGCTCCGCGTGCCAAGCGCTCCCGTGTCTCGGGTCAGCCGCTGCGCCCCGCGGCCGCCGGCTTTATCCGGCCCTCGCCAACCCGTGTGAAGCTGCCGTCGGCGCGTCGTGTGCAAAAGCCCGCGGGGAAGGGGGGGCGGTCGCCGGCTGCAAAAGGCCCGGCTGTGGCCCCGCACACCTGTGCCTGCGCCCATGGGGCCCGCGGAGCCCACCTGCCGGCCGCGAGAAGTTTGCCAGCCTTCGCCCGGCGCGGCGCCGGGTGTTGCTGAGTGAGGACGGGGTGACGCCTGCGCCCCCTCTCCCGCGCGGGGTGCGCCGCCTCGCCGCCGAAAAGTTCTCGACTTTAGTTTGTAGAAATCCGCTTTGGTGGTCCCGACGGCAGGAATGTGGCTCCTTGCCTCGGAAGAGGGTCTCCAGAGGCTACTGGGGCCGCGTCTGCCCCCTCCGACTGGCGGCTGCCCTGGGCTTGATCATGTTCCCCTCTCAGGCCGGAGACCCCCCGAGGTCGGCTTGCGTTCCTGTCCTCCTGCTAGGAGGGTCCTGGGGTGGGGTGGGCTGCGCCGCCCTCAGGCTGGGGCAGTGTCTCTCCCTAGGACCGGCTGGGACTGATCGACCCATCCTCGCCACTGAAGCAGCGCCAGCTCCTCCTCTCCTGCGCGCAGGAGAATCTGGAGTGGCCGGCTTTGTCTCCACCCGCACAGAGAACAGTGTCATCGGCAGTCACCATCGGAGCAGAGACGACCACTGCCACTGCTGCCACCCCTTCTCCCCTCCCCCGCAGCGGCTCCTGGGAGCCCCAGGAAGCCTGACAAGCAAGCCTGGGAGATGCAGGCCGGAGGTGCCACCGTGTTGGTACCGCTGGGAGAAGCCCTGTCCTTCCTGGCCAGCTTGGTGCCCCACCCACTTGAAGCAGCCTCCTTCCCTGGCGGTTCTTGGGGATTGGGGAGCCTGTGGCCCCCACGCTGGCCTCTGAC
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Task1_train_605
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This variant lies on Chromosome 1 and affects the gene SLC30A2 (solute carrier family 30 member 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Zinc deficiency, transient neonatal
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TTTCAGACTTGGGTTCTGCCCCTAGGGACAGCTACTCCTGCAACAACTGGCCTCTTCCCGCCCCACTTCAGGTATGAAGCCACCAAGGCTAGTCCCTGACATGTATCAGGGAGTGGGTAGAGTGGATGAAGACTCCGATTTACAGCTCCCAGTGTTCTTGGCCTAGGCCTAAGGTAGGACCCAGGTGTTCCAGGTGCCAGAGCTCAGACCATTAGGGAAGTTCTGTCCCTGTAGCGTATGCTGGAAAGTGGCACAGTCTCTTTCCGCAAAGCAGACATAGGTGTGGGTGTGAGAGGCGGGAGGAGGAGGGGAGACGAGGGAAACTGGGGCCCCACTCACATGATGTTCACAGCCACAGCGCAGCCCGACGTGATCAGCATGGTCCCCCCGTCAATTTCATAGTCCCCAGAGATCAGCCGCTCCACAGCCAGGTACACCAGTACCCCCGTCACGACCCAGATGGACAGTACAGAGACCAGGGCTCCCAAGATCTCTGAGGAAGAACCCAACCCCAACACCCACCTTGGCATGGGCCTGGAGCTAAGGAGTCTTCCCCCTTCCTTCAGGATCCTCCCCACCCACCTCCCACACAAAGTCAGGGCCTGGGTCCCACTGGGCTCTGCTGAAGGTATGGCCGGTATGGCTGCCCCTTACCCCACCCCTCATATATCTAGGAATGTAAGAGCTAGAAGGAACTAATAAGTCATCATCTGAGTCCACCTTTTTGGTTGTACATGTAAAGAAGCTGACTTATTAAAGTATGTGCCTTTTGTTCAGCTAGTAAACTGAGGCTTCTGGGGAAGACAGGCTGGGCCATCTCCCACAAAGAGGAAGGTGACGATGCAGTCCAGGGTGAACGGAAGAGAGGTTAAAGCCTATATCTTCCAGCAGCCTTTGCTGGCCTTCCCCTCCCCCCAGAGCTGATCCACAGAGTTATGTGCAGTGTTAATGCCATTGTCATTTGTTCTTGAAGCTTGGCTACTGCACTTCTTAGGAAGGTCAACTTTGCTTCCCTGCAGACTGAGAGCTCCTGGATGACTGGGACCAGGGCTCCCCCATCAGACTAGGATTTCCCAGAGGACAGAGGCCATGGTTGACATCCTCTTCCCCCATCCAGATCACCCTCCTGGCCTCACTCAGGGGAGGAAGGGGGGATCCACCCATTACAGCCACCTAAGAACCCCTGTTCTAACCCACCCTCTCTCTCAACCCCATCTCCAGCCAAACCGCGATCCTCACCAGCTCTCTGCCAGCCAAAGTTCATGGTCTTGGTGGCTGGCCGGGAGGACATCCAGAGGGAGAAGAGGCTGATGAGCATGCTGGCAAAGTCAGTGAGCAGGTGTGCTGCGTCAGTCATGACAGCCAAGCTGTGTGCCAGGTACCCACCTGCAGGGTGGAGGGTCCTTATCAGCTCCCCCAGAGAGCTGGCTCCCAAGACTGTGTGTGCAGCAGGGAGACCACAGGCTCTGGAAGAGGACATTCTGGGCTCAAGATCTCTCTACCCATGAGCTGTACCACCGTGACAAGTGACCTACTCTCTCTGAGCCTCAACTTCCACTCTCTGTGAAATGGGCCACCAATATCTACTTAGAGGGTGAATGTGCACATCAAGTTCAAATAGGGACTGGAAAACATAGCAGATACTCAGTAAATGCTCTTCCCTTCTAGGAATTCAGGCCTTCCCTTAGCTACGAGTTGTGCGTGATCTTTGGCAAGTTACTTCACCTGAACATGCCTCAGTTTCATCATCTGTAAAGTAAGGAGAATAACGTCACCCATGTGAGAACACAGGTTGTTGTTAGACCTGCATCAGATAATGTGTATATAAAGGCTTACTGTAGTGTGTGTTCAGTAATTGGGGCTTTTAGTGTCAGTATTGCTGGGAACATCCAGTCTATCCATGCACCAACTTCATTTAATTAGCCCAAAAGTGCTTACCAACGACTTCTCCGATCATGAACAACAGGCAGATGGCAGAGGCTACATACAGCTGGCGCTGGGCCTTCCCCTTCTTGGGGTCACAGTGACTGTCAGGACCCTTCTGAGCATGGCAGTGATGGTTGCTCTGGGCAGCCAGCTCAATGGCCTGCAAGTCCAGGCCAGGTCGGGGCAGAGGAATCCAGCCAGCCCCTTCCTGCCACAGAGATCCCGTGTATGACCTGGCCAGAGGGGAAGAGAGGGAACGCTCAGCTCTGAGATGAGGTAAGGAGGGCCGACTCTAGTCCCATTTCTCTGTGAGGCCTTGTGTCCACTGGGAAAAATAGCTAAGGACGCTCCGAGCTCGACAAACCAGAGGTGAGAAGCCTGTATTCAGACGGGGATGATAGGGGAATGGGAGTCCTGGGGCCCGGGGCCCTTCAGAGGCCAGAGGAGGTGAAGACCCTGGGAACCGGCCAAGGGGCGTGCTGTCCAGTGGAGCGCGGGGAAGGAACAGAGCGCAGGCTCTGGGAGAACAGCAGGCCCCCTCCAGCGCACTTGGGACACAGGGCCTCCCCGGGGCGGGGCTGCCTGGGGCAAAGTGCTGGGCGGGGCGGGACTCCAGGCATGGGAACCGCCAATCCCCCGGCCCCAGGCCCCCCGCGGGCAGGGGTCAGAATCTGGGCTGCGCCCCAAGGGAGAGACGGTCCTTGGGCCACAGCCCATTATCTTCGTTCCCTCACCTCACCCCACCCCTCCTGCATGGTCCCAGCTCAAGCCGCAGCCAAAACCAACCACTGCTAGGATGGCAAATGCGGAGGTGCGTCGGCTGCCGCCAAAATTCCCGCCCGTCCCCAGGCTCTCGCCTTACCGGATTGCCGGCCTGGCGTCCAACAGATGCTGCTTCTCCTTGGCCTCCATGCAGTCCCGCGCCGAGTCCCGGCAGCCGCGCAGCCGCCCCGCCGAGTGCGCCCTGAAAGTTGCGCGCGGGACTCCGGGTGGCGCTCACCCACCTGCCCCGAGGGCCCCGCGAGGTGCGCTCACTCCGGCCCGGCTCCTGCGGCCCCTGAGCTCCCCCGGCTCCCGCTGCGGCTGCAGCTCCGGCTCTGGCTCCGCGTGCCAAGCGCTCCCGTGTCTCGGGTCAGCCGCTGCGCCCCGCGGCCGCCGGCTTTATCCGGCCCTCGCCAACCCGTGTGAAGCTGCCGTCGGCGCGTCGTGTGCAAAAGCCCGCGGGGAAGGGGGGGCGGTCGCCGGCTGCAAAAGGCCCGGCTGTGGCCCCGCACACCTGTGCCTGCGCCCATGGGGCCCGCGGAGCCCACCTGCCGGCCGCGAGAAGTTTGCCAGCCTTCGCCCGGCGCGGCGCCGGGTGTTGCTGAGTGAGGACGGGGTGACGCCTGCGCCCCCTCTCCCGCGCGGGGTGCGCCGCCTCGCCGCCGAAAAGTTCTCGACTTTAGTTTGTAGAAATCCGCTTTGGTGGTCCCGACGGCAGGAATGTGGCTCCTTGCCTCGGAAGAGGGTCTCCAGAGGCTACTGGGGCCGCGTCTGCCCCCTCCGACTGGCGGCTGCCCTGGGCTTGATCATGTTCCCCTCTCAGGCCGGAGACCCCCCGAGGTCGGCTTGCGTTCCTGTCCTCCTGCTAGGAGGGTCCTGGGGTGGGGTGGGCTGCGCCGCCCTCAGGCTGGGGCAGTGTCTCTCCCTAGGACCGGCTGGGACTGATCGACCCATCCTCGCCACTGAAGCAGCGCCAGCTCCTCCTCTCCTGCGCGCAGGAGAATCTGGAGTGGCCGGCTTTGTCTCCACCCGCACAGAGAACAGTGTCATCGGCAGTCACCATCGGAGCAGAGACGACCACTGCCACTGCTGCCACCCCTTCTCCCCTCCCCCGCAGCGGCTCCTGGGAGCCCCAGGAAGCCTGACAAGCAAGCCTGGGAGATGCAGGCCGGAGGTGCCACCGTGTTGGTACCGCTGGGAGAAGCCCTGTCCTTCCTGGCCAGCTTGGTGCCCCACCCACTTGAAGCAGCCTCCTTCCCTGGCGGTTCTTGGGGATTGGGGAGCCTGTGGCCCCCACGCTGGCCTCTGACAGGTGCCCTCTGTGTAGAAAGAAGCTGCTGGAGACCTCCCTGTCTGGTCAATTCGTCTCCCCAGCACCCTTTGTCGCTAGGACCATAGGCTTGGTGGG
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TTTCAGACTTGGGTTCTGCCCCTAGGGACAGCTACTCCTGCAACAACTGGCCTCTTCCCGCCCCACTTCAGGTATGAAGCCACCAAGGCTAGTCCCTGACATGTATCAGGGAGTGGGTAGAGTGGATGAAGACTCCGATTTACAGCTCCCAGTGTTCTTGGCCTAGGCCTAAGGTAGGACCCAGGTGTTCCAGGTGCCAGAGCTCAGACCATTAGGGAAGTTCTGTCCCTGTAGCGTATGCTGGAAAGTGGCACAGTCTCTTTCCGCAAAGCAGACATAGGTGTGGGTGTGAGAGGCGGGAGGAGGAGGGGAGACGAGGGAAACTGGGGCCCCACTCACATGATGTTCACAGCCACAGCGCAGCCCGACGTGATCAGCATGGTCCCCCCGTCAATTTCATAGTCCCCAGAGATCAGCCGCTCCACAGCCAGGTACACCAGTACCCCCGTCACGACCCAGATGGACAGTACAGAGACCAGGGCTCCCAAGATCTCTGAGGAAGAACCCAACCCCAACACCCACCTTGGCATGGGCCTGGAGCTAAGGAGTCTTCCCCCTTCCTTCAGGATCCTCCCCACCCACCTCCCACACAAAGTCAGGGCCTGGGTCCCACTGGGCTCTGCTGAAGGTATGGCCGGTATGGCTGCCCCTTACCCCACCCCTCATATATCTAGGAATGTAAGAGCTAGAAGGAACTAATAAGTCATCATCTGAGTCCACCTTTTTGGTTGTACATGTAAAGAAGCTGACTTATTAAAGTATGTGCCTTTTGTTCAGCTAGTAAACTGAGGCTTCTGGGGAAGACAGGCTGGGCCATCTCCCACAAAGAGGAAGGTGACGATGCAGTCCAGGGTGAACGGAAGAGAGGTTAAAGCCTATATCTTCCAGCAGCCTTTGCTGGCCTTCCCCTCCCCCCAGAGCTGATCCACAGAGTTATGTGCAGTGTTAATGCCATTGTCATTTGTTCTTGAAGCTTGGCTACTGCACTTCTTAGGAAGGTCAACTTTGCTTCCCTGCAGACTGAGAGCTCCTGGATGACTGGGACCAGGGCTCCCCCATCAGACTAGGATTTCCCAGAGGACAGAGGCCATGGTTGACATCCTCTTCCCCCATCCAGATCACCCTCCTGGCCTCACTCAGGGGAGGAAGGGGGGATCCACCCATTACAGCCACCTAAGAACCCCTGTTCTAACCCACCCTCTCTCTCAACCCCATCTCCAGCCAAACCGCGATCCTCACCAGCTCTCTGCCAGCCAAAGTTCATGGTCTTGGTGGCTGGCCGGGAGGACATCCAGAGGGAGAAGAGGCTGATGAGCATGCTGGCAAAGTCAGTGAGCAGGTGTGCTGCGTCAGTCATGACAGCCAAGCTGTGTGCCAGGTACCCACCTGCAGGGTGGAGGGTCCTTATCAGCTCCCCCAGAGAGCTGGCTCCCAAGACTGTGTGTGCAGCAGGGAGACCACAGGCTCTGGAAGAGGACATTCTGGGCTCAAGATCTCTCTACCCATGAGCTGTACCACCGTGACAAGTGACCTACTCTCTCTGAGCCTCAACTTCCACTCTCTGTGAAATGGGCCACCAATATCTACTTAGAGGGTGAATGTGCACATCAAGTTCAAATAGGGACTGGAAAACATAGCAGATACTCAGTAAATGCTCTTCCCTTCTAGGAATTCAGGCCTTCCCTTAGCTACGAGTTGTGCGTGATCTTTGGCAAGTTACTTCACCTGAACATGCCTCAGTTTCATCATCTGTAAAGTAAGGAGAATAACGTCACCCATGTGAGAACACAGGTTGTTGTTAGACCTGCATCAGATAATGTGTATATAAAGGCTTACTGTAGTGTGTGTTCAGTAATTGGGGCTTTTAGTGTCAGTATTGCTGGGAACATCCAGTCTATCCATGCACCAACTTCATTTAATTAGCCCAAAAGTGCTTACCAACGACTTCTCCGATCATGAACAACAGGCAGATGGCAGAGGCTACATACAGCTGGCGCTGGGCCTTCCCCTTCTTGGGGTCACAGTGACTGTCAGGACCCTTCTGAGCACGGCAGTGATGGTTGCTCTGGGCAGCCAGCTCAATGGCCTGCAAGTCCAGGCCAGGTCGGGGCAGAGGAATCCAGCCAGCCCCTTCCTGCCACAGAGATCCCGTGTATGACCTGGCCAGAGGGGAAGAGAGGGAACGCTCAGCTCTGAGATGAGGTAAGGAGGGCCGACTCTAGTCCCATTTCTCTGTGAGGCCTTGTGTCCACTGGGAAAAATAGCTAAGGACGCTCCGAGCTCGACAAACCAGAGGTGAGAAGCCTGTATTCAGACGGGGATGATAGGGGAATGGGAGTCCTGGGGCCCGGGGCCCTTCAGAGGCCAGAGGAGGTGAAGACCCTGGGAACCGGCCAAGGGGCGTGCTGTCCAGTGGAGCGCGGGGAAGGAACAGAGCGCAGGCTCTGGGAGAACAGCAGGCCCCCTCCAGCGCACTTGGGACACAGGGCCTCCCCGGGGCGGGGCTGCCTGGGGCAAAGTGCTGGGCGGGGCGGGACTCCAGGCATGGGAACCGCCAATCCCCCGGCCCCAGGCCCCCCGCGGGCAGGGGTCAGAATCTGGGCTGCGCCCCAAGGGAGAGACGGTCCTTGGGCCACAGCCCATTATCTTCGTTCCCTCACCTCACCCCACCCCTCCTGCATGGTCCCAGCTCAAGCCGCAGCCAAAACCAACCACTGCTAGGATGGCAAATGCGGAGGTGCGTCGGCTGCCGCCAAAATTCCCGCCCGTCCCCAGGCTCTCGCCTTACCGGATTGCCGGCCTGGCGTCCAACAGATGCTGCTTCTCCTTGGCCTCCATGCAGTCCCGCGCCGAGTCCCGGCAGCCGCGCAGCCGCCCCGCCGAGTGCGCCCTGAAAGTTGCGCGCGGGACTCCGGGTGGCGCTCACCCACCTGCCCCGAGGGCCCCGCGAGGTGCGCTCACTCCGGCCCGGCTCCTGCGGCCCCTGAGCTCCCCCGGCTCCCGCTGCGGCTGCAGCTCCGGCTCTGGCTCCGCGTGCCAAGCGCTCCCGTGTCTCGGGTCAGCCGCTGCGCCCCGCGGCCGCCGGCTTTATCCGGCCCTCGCCAACCCGTGTGAAGCTGCCGTCGGCGCGTCGTGTGCAAAAGCCCGCGGGGAAGGGGGGGCGGTCGCCGGCTGCAAAAGGCCCGGCTGTGGCCCCGCACACCTGTGCCTGCGCCCATGGGGCCCGCGGAGCCCACCTGCCGGCCGCGAGAAGTTTGCCAGCCTTCGCCCGGCGCGGCGCCGGGTGTTGCTGAGTGAGGACGGGGTGACGCCTGCGCCCCCTCTCCCGCGCGGGGTGCGCCGCCTCGCCGCCGAAAAGTTCTCGACTTTAGTTTGTAGAAATCCGCTTTGGTGGTCCCGACGGCAGGAATGTGGCTCCTTGCCTCGGAAGAGGGTCTCCAGAGGCTACTGGGGCCGCGTCTGCCCCCTCCGACTGGCGGCTGCCCTGGGCTTGATCATGTTCCCCTCTCAGGCCGGAGACCCCCCGAGGTCGGCTTGCGTTCCTGTCCTCCTGCTAGGAGGGTCCTGGGGTGGGGTGGGCTGCGCCGCCCTCAGGCTGGGGCAGTGTCTCTCCCTAGGACCGGCTGGGACTGATCGACCCATCCTCGCCACTGAAGCAGCGCCAGCTCCTCCTCTCCTGCGCGCAGGAGAATCTGGAGTGGCCGGCTTTGTCTCCACCCGCACAGAGAACAGTGTCATCGGCAGTCACCATCGGAGCAGAGACGACCACTGCCACTGCTGCCACCCCTTCTCCCCTCCCCCGCAGCGGCTCCTGGGAGCCCCAGGAAGCCTGACAAGCAAGCCTGGGAGATGCAGGCCGGAGGTGCCACCGTGTTGGTACCGCTGGGAGAAGCCCTGTCCTTCCTGGCCAGCTTGGTGCCCCACCCACTTGAAGCAGCCTCCTTCCCTGGCGGTTCTTGGGGATTGGGGAGCCTGTGGCCCCCACGCTGGCCTCTGACAGGTGCCCTCTGTGTAGAAAGAAGCTGCTGGAGACCTCCCTGTCTGGTCAATTCGTCTCCCCAGCACCCTTTGTCGCTAGGACCATAGGCTTGGTGGG
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Task1_train_606
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This alteration in TRIM63 (tripartite motif containing 63) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; not specified
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GGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCAGCTTGACCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCTCTCTGTTGCCTTTTAGCTGTGTTTCCCTTTTAGCTGTGTGACCTTCAACAAATTAACGTTTCCTGGGCCTCCCATATGTCCCAGTTCACACTCTTCCCTCCCTTTCAGGACCAAGACTGGATTCGGGAAGCTCTGCATCATTTGGTCCTAGGAGAGGTGGAAAAACAGCTCCTTTCCTAGCACCCTCCTCAACCGAAGCTCCCTTCTCTCTATGTTCTTTTCTATAAAATGGGTGTGACAATAGCATCTCATCAGACCGGGAGCCTCTCGTGGGTGATCACAATGTTCCCCTCCTTCCTACCCTTCGCCCAACTCTTCATCCACTAGCAATTATGATGACCCCTTCCCCTCATCTCATCTCCAGATCCCTACCCCAAGTGAACATGGAAAATCGTGGAAGCTTTTTTCAGGGATAGAAAAGTTCCCTTCTGCCCTCAACAGTCTCACTACTCAACATGTGGTCTGTGGACCCAGCAGCTTGGGCAAATCCTGGGAACTGGCTAGAAATGCAGCTCTTATGCCTCATTCCAAACCAACTGAATCAAAACCTGAATTTCAACATGATCCCAGCGTAATTTTCACGCACTTCAAAGTTTGGGAAGTGTTGGTCTACAGCACACTGAAGAACTGTGCTCTGAAAACAATTTGTGCTGAATAAATACTGAGAATTATTGATGGGACACTCCCTGAGCTCAGGGACCACGTCTGTCTGGTTCACTCCTCCATCCCCCACATCTTGGGTGGGGCCGGACACACAGCTGTGCTTAAGAAGCATTTGTTGAGAGACTGGATGAATGGATTAGTCCCTCCCCTGCCATCCCTGCTTGACCGCCCCAGGCTCCGGGCCCCAACCTTTAGCCACAACCTATGGGTGAGCCTTCCCCAGAGACCAGGCTGCCCTGGAAAGCTCCAAATCCCCAGGCAGGACTATTCTGTCCGCTCACCTTGGTCACTCGACGGGAATCCTCCAGCTGAGTGATGATGGTCTGCACACGGTCATTCCCCGCCACCAGCATGGAGATACAGTTATTCAGTTCAGTCTAGATGGGGGTGTGGGGGTCAGGAGAGGAGAGACACAAATAGCCTCAGGGCCTACCCACTGGGGCATGGCAGCAACATGGCTTCCTCCCTCCCCTCTCTGCTAGAAAGAGCCTCCAGTAGGGATCTGGCCCCTCTTTCGGGTATAGCTCAGCTCCAGAGTAGAGGATATTAGAAAGATACTGCATCCCTTATTTTACAGGTGAGGCCAACAGCAGGCAAGTGAGCTGCCCAAAACACACAGCAAGGAACTGACAGAGGAGGGGCTTGTTTCTAAGAAAGAAGGGACAAAAAAAGAAATAGAGTTGGAGACGTCTAGAAGAGAGAGACCTAGAGAAGAGTGGGGAGTAGGGAAGAGAGAGTATGGAAAGGGGGTGGCTACGGCTTACTGCACGGACAGGGTGGTGGGCCCTCACAGGCCCAGGGACCCAGGGAGAAGGCTCTAAGCTGCCTCCTGCTGTGGGGGAATGTGAAGTCTTGGAGAAGAGGTGAGAGGCACAGGAAGAGGTGTCTGGGGGATGGAGAAGCCGTGGCCTGAGAGGACCCCAGTGGCCTGGCTGGGGCGTCTGACCGCTCCCCTGTGGCCACACCCAGGTGCTCTCGAGTGGCTCTAAGTATAACCATGAGCTCAGCTGCCTCCCCTAGGAAGGCCAGGGCTGCTGTCCCTGTGGCCTGGGAAGTCCCTCCAGAGAGACTATTCCTGAAAGGCCAGATCAGCAGATCTACAGGGATCAAATCTGCCTCCTGAATCATCAGGCCGTGCCCAGCAGGCCCAGGCTGGGGGTAAAAGTGGCTGGAGACAGTACCTTTTGTCCCTGGAAGACACTCTGCAATGGGGCCACCTCGCAGGCCTTGTGGATCCCAAACACCTTGCACATGGAGCAGGTGGGCACCTCACACGTGAGACAGTAGATGTTGATTTTCTCATCTTCGTGCTCCTTGCACATGGGGTGACTGCCCTTCTGCAGCGGCCGACTGCAGTGGAGAACAGTCACAAGTCATGGGGGTCCTGTGTCCCTGCATCCCCCTCCCCAGCTCCAATGCACCAGTCGCAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTCAGCCCAGGAATTCGAGGCTGCAGTGTGTCTGTGAATCTCCAGATTTATGCCCTGGGCCCTCAGTGTTTGGCTGCCCTAAAATCTTTCATCTTCTGGGGACCAAGGACTTGGGAAGCCAATGACACCAAATCTGTCCCCACATCCTAAGAGGGAGTTAGCCTGAGGCTCTGCCAGTGCCAAGGACACAGAAAGGGCCATAGAATTCCAGAGTCAGACCTGGAGATGTTTTAGAGAAGAGGAAACTGGGCTCCAGAAAAGTGAATTGACTCGTCCAAGGTCATACAGCAAGTAAGGGCAGAGGAGCCTAGAGTTCAGTTGCTCTAATTATAGTCACCTTAGCTTTGGTTACTGCAGGCTGGGCTCTGAGCTGAGAAATTTATACTGATGGCCTCATTTAATTCTATATTTAATCTACCAGACTGTAACCTCCATCAAGGTAGGGAAACTTGCCTGTTTTCTTCACCCCTGTGCCTACACTGTACAGTGCCTGGCATAGAGGAGGTGGTAATTAAACAAAGGTAGAAAGAATAAATCAATAAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGAGTCACCTGAGGTCAGGAGTTCAAGACCAGCTTGACCAATATGATGAAACCCCGTCTCTACTAAAAACTCAAAAAAATTAACCAGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAAACCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAATAAATTAATAACTAGCATAGGAATCAATAATATTCACCATCTTGAATTTATTAACATTCTCCATAAGAAAACAATTTTTTTAAAAAAGAATATTCACCACAGAGTCAGTCATACCCTCTCTCTTTCTCTTAGCTTCACCACTTTCTAGCTGTATGGCCTTGGATAAACCTCTGACCCTCTCTGAGCCATGAGGTTGCCCCTGAGGCTCAGAGAAGGAGCAGTGTGTATGCCCCATGTCATGGTGACTGGTGAGTGGGTAGCCCAGGGCTGTCCAACAGCCCAGCACAAGCCTGACTTCTAGTCCAGAGATTCTTTCAAAGGCCCAAGTCTCTTCCTCTACTTTCTCCCCTAACACATATGCTTAGAACTACCTTTCTTCCTTGAGACCTCCAACCTGTTATTTGTGCTTCTCTTGGGACATCAGTCATTTCCTAACCTAGATTCATTGGGGCCTGGGGGGGATTTTTTTGTTGTTGTGTTGTTCTGTTTTGATTTTTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTAGCTCACTGCAAACTCCACCTCCTGAGTTTCTGATGCCTCAGCCTCCTGAGTAGCTGAGATTACAGACGTGCACCACCATGCCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCATGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATCCACAGCACCCAGCCTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGGGTCTCACCATATTGTCCAGGCTGGAGTGCAGCAGCGATTCACAGATACACTGCAGCCTCGAACTCCTGGGCTGAGCAATCCTCCTACCTCAGTCTCCCCAGTAGCTGCAACTGGTGCATACCACCATGCCTGGTGTAGATTCGATTTTTTGAGTCTTCTGTCTCCGGCTAGACTATACACTCATTGAAAGCCAACACTACCTTCGATTCCCAGCCCCAAACAGAACAG
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GGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCAGCTTGACCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCTCTCTGTTGCCTTTTAGCTGTGTTTCCCTTTTAGCTGTGTGACCTTCAACAAATTAACGTTTCCTGGGCCTCCCATATGTCCCAGTTCACACTCTTCCCTCCCTTTCAGGACCAAGACTGGATTCGGGAAGCTCTGCATCATTTGGTCCTAGGAGAGGTGGAAAAACAGCTCCTTTCCTAGCACCCTCCTCAACCGAAGCTCCCTTCTCTCTATGTTCTTTTCTATAAAATGGGTGTGACAATAGCATCTCATCAGACCGGGAGCCTCTCGTGGGTGATCACAATGTTCCCCTCCTTCCTACCCTTCGCCCAACTCTTCATCCACTAGCAATTATGATGACCCCTTCCCCTCATCTCATCTCCAGATCCCTACCCCAAGTGAACATGGAAAATCGTGGAAGCTTTTTTCAGGGATAGAAAAGTTCCCTTCTGCCCTCAACAGTCTCACTACTCAACATGTGGTCTGTGGACCCAGCAGCTTGGGCAAATCCTGGGAACTGGCTAGAAATGCAGCTCTTATGCCTCATTCCAAACCAACTGAATCAAAACCTGAATTTCAACATGATCCCAGCGTAATTTTCACGCACTTCAAAGTTTGGGAAGTGTTGGTCTACAGCACACTGAAGAACTGTGCTCTGAAAACAATTTGTGCTGAATAAATACTGAGAATTATTGATGGGACACTCCCTGAGCTCAGGGACCACGTCTGTCTGGTTCACTCCTCCATCCCCCACATCTTGGGTGGGGCCGGACACACAGCTGTGCTTAAGAAGCATTTGTTGAGAGACTGGATGAATGGATTAGTCCCTCCCCTGCCATCCCTGCTTGACCGCCCCAGGCTCCGGGCCCCAACCTTTAGCCACAACCTATGGGTGAGCCTTCCCCAGAGACCAGGCTGCCCTGGAAAGCTCCAAATCCCCAGGCAGGACTATTCTGTCCGCTCACCTTGGTCACTCGACGGGAATCCTCCAGCTGAGTGATGATGGTCTGCACACGGTCATTCCCCGCCACCAGCATGGAGATACAGTTATTCAGTTCAGTCTAGATGGGGGTGTGGGGGTCAGGAGAGGAGAGACACAAATAGCCTCAGGGCCTACCCACTGGGGCATGGCAGCAACATGGCTTCCTCCCTCCCCTCTCTGCTAGAAAGAGCCTCCAGTAGGGATCTGGCCCCTCTTTCGGGTATAGCTCAGCTCCAGAGTAGAGGATATTAGAAAGATACTGCATCCCTTATTTTACAGGTGAGGCCAACAGCAGGCAAGTGAGCTGCCCAAAACACACAGCAAGGAACTGACAGAGGAGGGGCTTGTTTCTAAGAAAGAAGGGACAAAAAAAGAAATAGAGTTGGAGACGTCTAGAAGAGAGAGACCTAGAGAAGAGTGGGGAGTAGGGAAGAGAGAGTATGGAAAGGGGGTGGCTACGGCTTACTGCACGGACAGGGTGGTGGGCCCTCACAGGCCCAGGGACCCAGGGAGAAGGCTCTAAGCTGCCTCCTGCTGTGGGGGAATGTGAAGTCTTGGAGAAGAGGTGAGAGGCACAGGAAGAGGTGTCTGGGGGATGGAGAAGCCGTGGCCTGAGAGGACCCCAGTGGCCTGGCTGGGGCGTCTGACCGCTCCCCTGTGGCCACACCCAGGTGCTCTCGAGTGGCTCTAAGTATAACCATGAGCTCAGCTGCCTCCCCTAGGAAGGCCAGGGCTGCTGTCCCTGTGGCCTGGGAAGTCCCTCCAGAGAGACTATTCCTGAAAGGCCAGATCAGCAGATCTACAGGGATCAAATCTGCCTCCTGAATCATCAGGCCGTGCCCAGCAGGCCCAGGCTGGGGGTAAAAGTGGCTGGAGACAGTACCTTTTGTCCCTGGAAGACACTCTGCAATGGGGCCACCTCGCAGGCCTTGTGGATCCCAAACACCTTGCACATGGAGCAGGTGGGCACCTCACACGTGAGACAGTAGATGTTCATTTTCTCATCTTCGTGCTCCTTGCACATGGGGTGACTGCCCTTCTGCAGCGGCCGACTGCAGTGGAGAACAGTCACAAGTCATGGGGGTCCTGTGTCCCTGCATCCCCCTCCCCAGCTCCAATGCACCAGTCGCAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTCAGCCCAGGAATTCGAGGCTGCAGTGTGTCTGTGAATCTCCAGATTTATGCCCTGGGCCCTCAGTGTTTGGCTGCCCTAAAATCTTTCATCTTCTGGGGACCAAGGACTTGGGAAGCCAATGACACCAAATCTGTCCCCACATCCTAAGAGGGAGTTAGCCTGAGGCTCTGCCAGTGCCAAGGACACAGAAAGGGCCATAGAATTCCAGAGTCAGACCTGGAGATGTTTTAGAGAAGAGGAAACTGGGCTCCAGAAAAGTGAATTGACTCGTCCAAGGTCATACAGCAAGTAAGGGCAGAGGAGCCTAGAGTTCAGTTGCTCTAATTATAGTCACCTTAGCTTTGGTTACTGCAGGCTGGGCTCTGAGCTGAGAAATTTATACTGATGGCCTCATTTAATTCTATATTTAATCTACCAGACTGTAACCTCCATCAAGGTAGGGAAACTTGCCTGTTTTCTTCACCCCTGTGCCTACACTGTACAGTGCCTGGCATAGAGGAGGTGGTAATTAAACAAAGGTAGAAAGAATAAATCAATAAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGAGTCACCTGAGGTCAGGAGTTCAAGACCAGCTTGACCAATATGATGAAACCCCGTCTCTACTAAAAACTCAAAAAAATTAACCAGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAAACCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAATAAATTAATAACTAGCATAGGAATCAATAATATTCACCATCTTGAATTTATTAACATTCTCCATAAGAAAACAATTTTTTTAAAAAAGAATATTCACCACAGAGTCAGTCATACCCTCTCTCTTTCTCTTAGCTTCACCACTTTCTAGCTGTATGGCCTTGGATAAACCTCTGACCCTCTCTGAGCCATGAGGTTGCCCCTGAGGCTCAGAGAAGGAGCAGTGTGTATGCCCCATGTCATGGTGACTGGTGAGTGGGTAGCCCAGGGCTGTCCAACAGCCCAGCACAAGCCTGACTTCTAGTCCAGAGATTCTTTCAAAGGCCCAAGTCTCTTCCTCTACTTTCTCCCCTAACACATATGCTTAGAACTACCTTTCTTCCTTGAGACCTCCAACCTGTTATTTGTGCTTCTCTTGGGACATCAGTCATTTCCTAACCTAGATTCATTGGGGCCTGGGGGGGATTTTTTTGTTGTTGTGTTGTTCTGTTTTGATTTTTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTAGCTCACTGCAAACTCCACCTCCTGAGTTTCTGATGCCTCAGCCTCCTGAGTAGCTGAGATTACAGACGTGCACCACCATGCCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCATGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATCCACAGCACCCAGCCTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGGGTCTCACCATATTGTCCAGGCTGGAGTGCAGCAGCGATTCACAGATACACTGCAGCCTCGAACTCCTGGGCTGAGCAATCCTCCTACCTCAGTCTCCCCAGTAGCTGCAACTGGTGCATACCACCATGCCTGGTGTAGATTCGATTTTTTGAGTCTTCTGTCTCCGGCTAGACTATACACTCATTGAAAGCCAACACTACCTTCGATTCCCAGCCCCAAACAGAACAG
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Task1_train_607
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The gene TRIM63 (tripartite motif containing 63) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Hypertrophic cardiomyopathy
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GGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCAGCTTGACCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCTCTCTGTTGCCTTTTAGCTGTGTTTCCCTTTTAGCTGTGTGACCTTCAACAAATTAACGTTTCCTGGGCCTCCCATATGTCCCAGTTCACACTCTTCCCTCCCTTTCAGGACCAAGACTGGATTCGGGAAGCTCTGCATCATTTGGTCCTAGGAGAGGTGGAAAAACAGCTCCTTTCCTAGCACCCTCCTCAACCGAAGCTCCCTTCTCTCTATGTTCTTTTCTATAAAATGGGTGTGACAATAGCATCTCATCAGACCGGGAGCCTCTCGTGGGTGATCACAATGTTCCCCTCCTTCCTACCCTTCGCCCAACTCTTCATCCACTAGCAATTATGATGACCCCTTCCCCTCATCTCATCTCCAGATCCCTACCCCAAGTGAACATGGAAAATCGTGGAAGCTTTTTTCAGGGATAGAAAAGTTCCCTTCTGCCCTCAACAGTCTCACTACTCAACATGTGGTCTGTGGACCCAGCAGCTTGGGCAAATCCTGGGAACTGGCTAGAAATGCAGCTCTTATGCCTCATTCCAAACCAACTGAATCAAAACCTGAATTTCAACATGATCCCAGCGTAATTTTCACGCACTTCAAAGTTTGGGAAGTGTTGGTCTACAGCACACTGAAGAACTGTGCTCTGAAAACAATTTGTGCTGAATAAATACTGAGAATTATTGATGGGACACTCCCTGAGCTCAGGGACCACGTCTGTCTGGTTCACTCCTCCATCCCCCACATCTTGGGTGGGGCCGGACACACAGCTGTGCTTAAGAAGCATTTGTTGAGAGACTGGATGAATGGATTAGTCCCTCCCCTGCCATCCCTGCTTGACCGCCCCAGGCTCCGGGCCCCAACCTTTAGCCACAACCTATGGGTGAGCCTTCCCCAGAGACCAGGCTGCCCTGGAAAGCTCCAAATCCCCAGGCAGGACTATTCTGTCCGCTCACCTTGGTCACTCGACGGGAATCCTCCAGCTGAGTGATGATGGTCTGCACACGGTCATTCCCCGCCACCAGCATGGAGATACAGTTATTCAGTTCAGTCTAGATGGGGGTGTGGGGGTCAGGAGAGGAGAGACACAAATAGCCTCAGGGCCTACCCACTGGGGCATGGCAGCAACATGGCTTCCTCCCTCCCCTCTCTGCTAGAAAGAGCCTCCAGTAGGGATCTGGCCCCTCTTTCGGGTATAGCTCAGCTCCAGAGTAGAGGATATTAGAAAGATACTGCATCCCTTATTTTACAGGTGAGGCCAACAGCAGGCAAGTGAGCTGCCCAAAACACACAGCAAGGAACTGACAGAGGAGGGGCTTGTTTCTAAGAAAGAAGGGACAAAAAAAGAAATAGAGTTGGAGACGTCTAGAAGAGAGAGACCTAGAGAAGAGTGGGGAGTAGGGAAGAGAGAGTATGGAAAGGGGGTGGCTACGGCTTACTGCACGGACAGGGTGGTGGGCCCTCACAGGCCCAGGGACCCAGGGAGAAGGCTCTAAGCTGCCTCCTGCTGTGGGGGAATGTGAAGTCTTGGAGAAGAGGTGAGAGGCACAGGAAGAGGTGTCTGGGGGATGGAGAAGCCGTGGCCTGAGAGGACCCCAGTGGCCTGGCTGGGGCGTCTGACCGCTCCCCTGTGGCCACACCCAGGTGCTCTCGAGTGGCTCTAAGTATAACCATGAGCTCAGCTGCCTCCCCTAGGAAGGCCAGGGCTGCTGTCCCTGTGGCCTGGGAAGTCCCTCCAGAGAGACTATTCCTGAAAGGCCAGATCAGCAGATCTACAGGGATCAAATCTGCCTCCTGAATCATCAGGCCGTGCCCAGCAGGCCCAGGCTGGGGGTAAAAGTGGCTGGAGACAGTACCTTTTGTCCCTGGAAGACACTCTGCAATGGGGCCACCTCGCAGGCCTTGTGGATCCCAAACACCTTGCACATGGAGCAGGTGGGCACCTCACACGTGAGACAGTAGATGTTGATTTTCTCATCTTCGTGCTCCTTGCACATGGGGTGACTGCCCTTCTGCAGCGGCCGACTGCAGTGGAGAACAGTCACAAGTCATGGGGGTCCTGTGTCCCTGCATCCCCCTCCCCAGCTCCAATGCACCAGTCGCAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTCAGCCCAGGAATTCGAGGCTGCAGTGTGTCTGTGAATCTCCAGATTTATGCCCTGGGCCCTCAGTGTTTGGCTGCCCTAAAATCTTTCATCTTCTGGGGACCAAGGACTTGGGAAGCCAATGACACCAAATCTGTCCCCACATCCTAAGAGGGAGTTAGCCTGAGGCTCTGCCAGTGCCAAGGACACAGAAAGGGCCATAGAATTCCAGAGTCAGACCTGGAGATGTTTTAGAGAAGAGGAAACTGGGCTCCAGAAAAGTGAATTGACTCGTCCAAGGTCATACAGCAAGTAAGGGCAGAGGAGCCTAGAGTTCAGTTGCTCTAATTATAGTCACCTTAGCTTTGGTTACTGCAGGCTGGGCTCTGAGCTGAGAAATTTATACTGATGGCCTCATTTAATTCTATATTTAATCTACCAGACTGTAACCTCCATCAAGGTAGGGAAACTTGCCTGTTTTCTTCACCCCTGTGCCTACACTGTACAGTGCCTGGCATAGAGGAGGTGGTAATTAAACAAAGGTAGAAAGAATAAATCAATAAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGAGTCACCTGAGGTCAGGAGTTCAAGACCAGCTTGACCAATATGATGAAACCCCGTCTCTACTAAAAACTCAAAAAAATTAACCAGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAAACCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAATAAATTAATAACTAGCATAGGAATCAATAATATTCACCATCTTGAATTTATTAACATTCTCCATAAGAAAACAATTTTTTTAAAAAAGAATATTCACCACAGAGTCAGTCATACCCTCTCTCTTTCTCTTAGCTTCACCACTTTCTAGCTGTATGGCCTTGGATAAACCTCTGACCCTCTCTGAGCCATGAGGTTGCCCCTGAGGCTCAGAGAAGGAGCAGTGTGTATGCCCCATGTCATGGTGACTGGTGAGTGGGTAGCCCAGGGCTGTCCAACAGCCCAGCACAAGCCTGACTTCTAGTCCAGAGATTCTTTCAAAGGCCCAAGTCTCTTCCTCTACTTTCTCCCCTAACACATATGCTTAGAACTACCTTTCTTCCTTGAGACCTCCAACCTGTTATTTGTGCTTCTCTTGGGACATCAGTCATTTCCTAACCTAGATTCATTGGGGCCTGGGGGGGATTTTTTTGTTGTTGTGTTGTTCTGTTTTGATTTTTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTAGCTCACTGCAAACTCCACCTCCTGAGTTTCTGATGCCTCAGCCTCCTGAGTAGCTGAGATTACAGACGTGCACCACCATGCCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCATGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATCCACAGCACCCAGCCTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGGGTCTCACCATATTGTCCAGGCTGGAGTGCAGCAGCGATTCACAGATACACTGCAGCCTCGAACTCCTGGGCTGAGCAATCCTCCTACCTCAGTCTCCCCAGTAGCTGCAACTGGTGCATACCACCATGCCTGGTGTAGATTCGATTTTTTGAGTCTTCTGTCTCCGGCTAGACTATACACTCATTGAAAGCCAACACTACCTTCGATTCCCAGCCCCAAACAGAACAG
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GGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCAGCTTGACCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCTCTCTGTTGCCTTTTAGCTGTGTTTCCCTTTTAGCTGTGTGACCTTCAACAAATTAACGTTTCCTGGGCCTCCCATATGTCCCAGTTCACACTCTTCCCTCCCTTTCAGGACCAAGACTGGATTCGGGAAGCTCTGCATCATTTGGTCCTAGGAGAGGTGGAAAAACAGCTCCTTTCCTAGCACCCTCCTCAACCGAAGCTCCCTTCTCTCTATGTTCTTTTCTATAAAATGGGTGTGACAATAGCATCTCATCAGACCGGGAGCCTCTCGTGGGTGATCACAATGTTCCCCTCCTTCCTACCCTTCGCCCAACTCTTCATCCACTAGCAATTATGATGACCCCTTCCCCTCATCTCATCTCCAGATCCCTACCCCAAGTGAACATGGAAAATCGTGGAAGCTTTTTTCAGGGATAGAAAAGTTCCCTTCTGCCCTCAACAGTCTCACTACTCAACATGTGGTCTGTGGACCCAGCAGCTTGGGCAAATCCTGGGAACTGGCTAGAAATGCAGCTCTTATGCCTCATTCCAAACCAACTGAATCAAAACCTGAATTTCAACATGATCCCAGCGTAATTTTCACGCACTTCAAAGTTTGGGAAGTGTTGGTCTACAGCACACTGAAGAACTGTGCTCTGAAAACAATTTGTGCTGAATAAATACTGAGAATTATTGATGGGACACTCCCTGAGCTCAGGGACCACGTCTGTCTGGTTCACTCCTCCATCCCCCACATCTTGGGTGGGGCCGGACACACAGCTGTGCTTAAGAAGCATTTGTTGAGAGACTGGATGAATGGATTAGTCCCTCCCCTGCCATCCCTGCTTGACCGCCCCAGGCTCCGGGCCCCAACCTTTAGCCACAACCTATGGGTGAGCCTTCCCCAGAGACCAGGCTGCCCTGGAAAGCTCCAAATCCCCAGGCAGGACTATTCTGTCCGCTCACCTTGGTCACTCGACGGGAATCCTCCAGCTGAGTGATGATGGTCTGCACACGGTCATTCCCCGCCACCAGCATGGAGATACAGTTATTCAGTTCAGTCTAGATGGGGGTGTGGGGGTCAGGAGAGGAGAGACACAAATAGCCTCAGGGCCTACCCACTGGGGCATGGCAGCAACATGGCTTCCTCCCTCCCCTCTCTGCTAGAAAGAGCCTCCAGTAGGGATCTGGCCCCTCTTTCGGGTATAGCTCAGCTCCAGAGTAGAGGATATTAGAAAGATACTGCATCCCTTATTTTACAGGTGAGGCCAACAGCAGGCAAGTGAGCTGCCCAAAACACACAGCAAGGAACTGACAGAGGAGGGGCTTGTTTCTAAGAAAGAAGGGACAAAAAAAGAAATAGAGTTGGAGACGTCTAGAAGAGAGAGACCTAGAGAAGAGTGGGGAGTAGGGAAGAGAGAGTATGGAAAGGGGGTGGCTACGGCTTACTGCACGGACAGGGTGGTGGGCCCTCACAGGCCCAGGGACCCAGGGAGAAGGCTCTAAGCTGCCTCCTGCTGTGGGGGAATGTGAAGTCTTGGAGAAGAGGTGAGAGGCACAGGAAGAGGTGTCTGGGGGATGGAGAAGCCGTGGCCTGAGAGGACCCCAGTGGCCTGGCTGGGGCGTCTGACCGCTCCCCTGTGGCCACACCCAGGTGCTCTCGAGTGGCTCTAAGTATAACCATGAGCTCAGCTGCCTCCCCTAGGAAGGCCAGGGCTGCTGTCCCTGTGGCCTGGGAAGTCCCTCCAGAGAGACTATTCCTGAAAGGCCAGATCAGCAGATCTACAGGGATCAAATCTGCCTCCTGAATCATCAGGCCGTGCCCAGCAGGCCCAGGCTGGGGGTAAAAGTGGCTGGAGACAGTACCTTTTGTCCCTGGAAGACACTCTGCAATGGGGCCACCTCGCAGGCCTTGTGGATCCCAAACACCTTGCACATGGAGCAGGTGGGCACCTCACACGTGAGACAGTAGATGTTCATTTTCTCATCTTCGTGCTCCTTGCACATGGGGTGACTGCCCTTCTGCAGCGGCCGACTGCAGTGGAGAACAGTCACAAGTCATGGGGGTCCTGTGTCCCTGCATCCCCCTCCCCAGCTCCAATGCACCAGTCGCAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTCAGCCCAGGAATTCGAGGCTGCAGTGTGTCTGTGAATCTCCAGATTTATGCCCTGGGCCCTCAGTGTTTGGCTGCCCTAAAATCTTTCATCTTCTGGGGACCAAGGACTTGGGAAGCCAATGACACCAAATCTGTCCCCACATCCTAAGAGGGAGTTAGCCTGAGGCTCTGCCAGTGCCAAGGACACAGAAAGGGCCATAGAATTCCAGAGTCAGACCTGGAGATGTTTTAGAGAAGAGGAAACTGGGCTCCAGAAAAGTGAATTGACTCGTCCAAGGTCATACAGCAAGTAAGGGCAGAGGAGCCTAGAGTTCAGTTGCTCTAATTATAGTCACCTTAGCTTTGGTTACTGCAGGCTGGGCTCTGAGCTGAGAAATTTATACTGATGGCCTCATTTAATTCTATATTTAATCTACCAGACTGTAACCTCCATCAAGGTAGGGAAACTTGCCTGTTTTCTTCACCCCTGTGCCTACACTGTACAGTGCCTGGCATAGAGGAGGTGGTAATTAAACAAAGGTAGAAAGAATAAATCAATAAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGAGTCACCTGAGGTCAGGAGTTCAAGACCAGCTTGACCAATATGATGAAACCCCGTCTCTACTAAAAACTCAAAAAAATTAACCAGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAAACCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAATAAATTAATAACTAGCATAGGAATCAATAATATTCACCATCTTGAATTTATTAACATTCTCCATAAGAAAACAATTTTTTTAAAAAAGAATATTCACCACAGAGTCAGTCATACCCTCTCTCTTTCTCTTAGCTTCACCACTTTCTAGCTGTATGGCCTTGGATAAACCTCTGACCCTCTCTGAGCCATGAGGTTGCCCCTGAGGCTCAGAGAAGGAGCAGTGTGTATGCCCCATGTCATGGTGACTGGTGAGTGGGTAGCCCAGGGCTGTCCAACAGCCCAGCACAAGCCTGACTTCTAGTCCAGAGATTCTTTCAAAGGCCCAAGTCTCTTCCTCTACTTTCTCCCCTAACACATATGCTTAGAACTACCTTTCTTCCTTGAGACCTCCAACCTGTTATTTGTGCTTCTCTTGGGACATCAGTCATTTCCTAACCTAGATTCATTGGGGCCTGGGGGGGATTTTTTTGTTGTTGTGTTGTTCTGTTTTGATTTTTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTAGCTCACTGCAAACTCCACCTCCTGAGTTTCTGATGCCTCAGCCTCCTGAGTAGCTGAGATTACAGACGTGCACCACCATGCCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCATGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATCCACAGCACCCAGCCTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGGGTCTCACCATATTGTCCAGGCTGGAGTGCAGCAGCGATTCACAGATACACTGCAGCCTCGAACTCCTGGGCTGAGCAATCCTCCTACCTCAGTCTCCCCAGTAGCTGCAACTGGTGCATACCACCATGCCTGGTGTAGATTCGATTTTTTGAGTCTTCTGTCTCCGGCTAGACTATACACTCATTGAAAGCCAACACTACCTTCGATTCCCAGCCCCAAACAGAACAG
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Task1_train_608
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This variant affects gene DHDDS (dehydrodolichyl diphosphate synthase subunit) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Retinitis pigmentosa 59
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AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACCGTCGCTATGCCAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAG
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AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACAGTCGCTATGCCAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAG
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Task1_train_609
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Given this context: Chromosome 1, gene DHDDS (dehydrodolichyl diphosphate synthase subunit) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Retinitis pigmentosa 59
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AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACCGTCGCTATGCCAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAG
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AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACTGTCGCTATGCCAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAG
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Task1_train_610
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This mutation occurs in DHDDS (dehydrodolichyl diphosphate synthase subunit) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Retinitis pigmentosa 59
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AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACCGTCGCTATGCCAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAG
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AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACTGTCGCTATGCCAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAG
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Task1_train_611
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With a mutation on Chromosome 1 in gene DHDDS (dehydrodolichyl diphosphate synthase subunit), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Developmental delay and seizures with or without movement abnormalities
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AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACCGTCGCTATGCCAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAG
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AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACTGTCGCTATGCCAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAG
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Task1_train_612
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The gene DHDDS (dehydrodolichyl diphosphate synthase subunit), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Developmental delay and seizures with or without movement abnormalities
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AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACCGTCGCTATGCCAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAG
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AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACTGTCGCTATGCCAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAG
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Task1_train_613
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A variant found in Chromosome 1 affects DHDDS (dehydrodolichyl diphosphate synthase subunit). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Developmental delay and seizures with or without movement abnormalities
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GAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACCGTCGCTATGCCAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAGTGAG
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GAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACCGTCACTATGCCAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAGTGAG
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Task1_train_614
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This gene mutation involves DHDDS (dehydrodolichyl diphosphate synthase subunit) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Developmental delay and seizures with or without movement abnormalities
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TTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACCGTCGCTATGCCAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAGTGAGGTTCTCACCAG
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TTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACCGTCGCTATGCCAAGGAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAGTGAGGTTCTCACCAG
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Task1_train_615
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The following genetic variant occurs in DHDDS (dehydrodolichyl diphosphate synthase subunit) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Retinitis pigmentosa 59
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TTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACCGTCGCTATGCCAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAGTGAGGTTCTCACCAG
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TTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACCGTCGCTATGCCAAGGAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAGTGAGGTTCTCACCAG
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Task1_train_616
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This variant impacts the gene DHDDS (dehydrodolichyl diphosphate synthase subunit) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Retinitis pigmentosa 59
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TTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACCGTCGCTATGCCAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAGTGAGGTTCTCACCAG
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TTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACCGTCGCTATGCCAAGGAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAGTGAGGTTCTCACCAG
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Task1_train_617
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The following genetic variant occurs in DHDDS (dehydrodolichyl diphosphate synthase subunit) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Retinitis pigmentosa
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TTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACCGTCGCTATGCCAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAGTGAGGTTCTCACCAG
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TTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTGCTGCCTCAGCCTGCCAAATAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGGCCTGAGTAAGACCCTGTTTCAAAGAAAAAAAATTTTTTCCTTTTGCTTTCTAGTTGGAGACCAACTAAACCAAGCCTGTATTTAAGAGCATATGGTTGAAAGATTAACTCTGGAAGCAGATGGACATCAGTTTGAATCCCTATTTGCCTCTTCTTAACCGCGTGACTGGGCCGGGCGTGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATCGCCACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAAAAAAACAGAACAAAACTGTGTGGCTTATGCAAGTCACTAGAACTCTCTGAGCTTGTTTTTCCACCTGTAAAATGAAGATAATACTATTTACTTTACAGACTTGTATGATAAGATGAAGTATAAGAAGCCCAGCATAGTATTTGGCATGTAGTACGTGCTCAGTAAACACGTAAATAAAAATAAGTAGGCCAGCTATGGTGGCTCATGCCTTTTTTAATCCCAGCACTTCGGGAGGCTGATGAAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCTGGTTAACATAGGGAAACACACCATCTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTGACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCATGTGCCATCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCGACCCCATCTCTTAAAAAAAGAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGGATAGGTAGGTGTGGTGGCATGTGCTGGTAGCCCTGGCTACTCAGCGGGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGGCCAAGGCTACAGTCAGCTGTGATCATACCATTGCATTCCCACCTGGGTGACTAAGTGAGATCCTGCCTCAAAATAAAGTAAGTAACTAAGTAAGTAAACTTTAATGTCTTTTTACTGAGTTAAAAGCACAAAGTACCCAATTCCCTTCGTCAGGGTTTTCATCACATAGCCCAAACATATCACCTTGGGGTGTAGTGTCTTCCTTTATCCCTGAAGAATATGAGACCTGTTCATCATTTGTCTTCCTATTCCACAGGCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACCGTCGCTATGCCAAGGAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAGGTGGGTGTGTATGGCAGAGCCCAAAGTGAACAGTCTGTGGAGAGGTAGATTATAGCTAGAAAACCAGGCTCTGAGTTTGCTGTGGTTGGAGAGTGTTTTTTGTATCTGTCTCTGTGTTTTATTGTTTGCTTGCTAGCTATAGATCTCATCTTGACATTGGCCAGACGTGGTTGCTTTTGCCTCTAATCCCACACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGGGTTCAGGACTAGCCCGGGTAACATAGTCAGACCCTGTCTCTACAAAAAAATTTAAAAATTAGCCAGACTTGATGGTGCACACCTGTGCCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTATCTGAGCCCAGGAAGCTTGAGGCTGCAGTGAATAGAGATTGTGCCCCTGTACTCTAGCCTGGGTGACAGAGTGACACCATCTCAAGAAAAAAAAAATGACATTAACAAAGAAGTAATCATCCAGTGAATGACCATAAAATACTGGAAATAAGAACAAAATTGCCTCTTCTTATTTTAATAAATCAATAGTTTATATTTTATGCCTCATCCAATCCTTATTGTATGCTCTACGTGACTTAACATTAATAAAATTGCATCTGTAGCTTCAGTAACCTTATTTTCACTTAACATTTTGGTTTTGTTTATTTGTTTGAGACAGTCTCACTCTGTTGCCCAGGCCAGAGTACAGTGCATGATCTCTGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTGAACACCCGTCACCATGTCCAACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAACATTTGGGGAGGCATTTTTTAAGGTGTATATATAAGCTTTCTATCTGTATCTTTCAATGACTGTAGAACATTTTATCAAGAGGATCTGATATAATTTAACTGCTCCACTATTACTTGACATTACAATAAACATTATAAATAGTACTGTTTCAGCCTGGGCAACATGGTGAGATCCTGTCTCTACAAAACAAAAAAAAAAATTAGCCAAGCATGATGGTGCATGCCTGTGGTCCCAGCTACTTACGAGACTGAGGTGGAAGGATGACTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCTGTGTTCACGTCACCGCAATCCAACCTGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAGTACTCTTTTTGGATAAATTCTTAGAAGTGACATTTCTGGACGAACATTGAGTGACTACTCATTCTGCTTTGCCAAGGCTGAGGGGTTTCTCAGGACACAGGTCTTTCAGTGCTAAAACTGGTGAAAGTCCCCGGCAAACCAGGACATCACTCTACACAGAGGTCATGAACATTTTATGGTATAATGCATGTTATAAATTGGAAGACATTAAGTTTAACAAAAGAATGGAATATGACAATCTTGGTGAAATTTTTAAGAAGAATGGAGGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCATGAGGTCAGGAGATCAAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAAAAGTTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCCAAGATTGTGCCACTGCACTCCGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAATAAATAAATAAAAGAATGGAAATATGGTCTGTAGTTCACAGGTCCCAGTGTCCTAGCACAGGGACACAGTTTGATGCCAGGGCCGTGATATTTTTTTCCTTGAGTGAATGGCAGTGAGGTTCTCACCAG
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Task1_train_618
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This variant affects the gene DHDDS (dehydrodolichyl diphosphate synthase subunit) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Retinitis pigmentosa 59
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CAGCCCAGATCTTTCTGCTTTCCTGACCATGCGTCCAGAAACATGTTCCCACCAAGAAATTTTTGTCTTCTGGACCCTTTCCAAGATGTAACTCTAACTACCTGGACATTCTGAATTCTGCTTCTGGGTAGTTGGTAGGACAGGTAAACAGCATTCTTGGAGCCAACAGACACCAGCCATGCAAATACCCTCTTTCTGTGGACAGGATAGTTTTACTTAAGATAAATGCTTCCACTCACCAGTTTTCTTCAATTCTATCTCCTTTCTGACCATCTCTGTGCTTGGGAAAGTAGCTCTTATCAAACACAGGAGAACTGATCATATTGCTGTTTATTTAAAATCCGGTGTAATGTGGAATTTTTGCAATGTTTCAGGATCCATATGACTTAAATAAGATTTTAAAAATAAATTAGCTGAGCATGGTGTTGCACACCTGTGGTCCTAGCTACTTGGGAAGCTGAGGTAGGAGGATTGCTTGAGCATGGAAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGTCTGGGCAACAGAGGGAGACCCTGTCTGGAAAAAAAATAAAATATGTTTTCTGTTTTTTTTTGTTTTGAGACAGAGCCTCGCTCTGTCACTCAGGCTGGAGTTCAGTGGCATAATCTGGGCTTACTGTAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGGCACCACACCCAGCTAATTTTTGTACTTTTGGTAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTCAAACTCCTGATCGCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGTCACCACGCCTGGCCAAAAAAAGTTATTTACATAAATTCAAACAATAACAGAAGTACATAAAGTAAAAAGAAATAGTCTTTTCTTCCTTACTTCTTATCCAATCCACTGTTAATAGTATGATGTATCTTTTTAGACTTTGTTCTTTATGTATACTTATATGCACGTGTGAATGTTTGAATGTGTGTGTATGTTTTATACTATATATTCTCTGAAACTTGCCTTTTACATTTAACATTAGATTTTGGACATCTTTCCAAATCAGTGCATTTAGATTTATCTTTATTTTTAGAATGCAGTTGCATAGTATTTCATCAAATACTGGGCCATAGGATGTATGTATGTATTTTAAAAAACAAGATGTTTTTAGCAAAAGACAACAGATATTTTTGTGGGTGCATCTGGTTTTAGGCCTGAGGCTAAATGACTTTCAGCAAATTATTCATCTTTGAGCCTCAGTTTCCTTATCTATAAAATGAGGATAGAAATACCTTATGTATCTGCTGAGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTCAGAGGCCGAGGGGGGGGCGGATCACGAGGTCAGGAGATCGAGTCCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAACAAATTAGCAGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAATGGCATGAACCTGGGAGGCAGAGTTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGGAACAGTGTGAGACTCTATCTCAAATAAATAAATAAATAAATAAATACCTTATGTATCAGAACATGTCAAAAAAGGCAAAAAATAAAAAAGAGAAAAGAATTTTACATTGTATTCTCTAAAAAAAAAAAAAAAAAAGAAATACCTTATGTAGTTGTGAAGATTTAAATTCATTCATTAATTTAGCAAACATTTTTTGAGGGCCTTCTGTGTAGTATTGGCTAGTGTATTTGATGGTATTGTATAAACTGAGAAGCCTATATATGGAAGTTCACCATGAGAACACTACAGAAAGAGAATACTACAGGATGTGTGCCTCTCTTTGTCTCTTCTTGCTCATCTTAGTGATATCTCTGAGTCTCTGCTTGATAAGTGCCTCTATACCAACCGCTCTCCTCATCCTGACATCTTGATACGGACTTCTGGAGAAGTGCGGCTGAGTGACTTCTTGCTATGGCAGGTAGGTCATTTCCAAGTACTATTATGTTTGTGTCATGGGGAAACCAACTGTATCCACAGAATGGATCAGAGTGGTCCATCCCCACTCCCAAACAGGCTGGGGCCAGAGTACTTCTGGGGAAAGCTAAAATCTGGAGAAGCATCTCTAGGCTGTGTCTCATAATATTTGATGTCCATTCCTCATCTGTCGCTGGCTTTGCGAATCCAACTATAGTGAAAACTTCATTGTGCCGCTTTTCAAGGAATGGGACTTCTGTCTTGCATCCCTGAGCGTAAGCTCTTGCCTTGGTAACCTGCCAGGGACCCTAGCCCCTCTGGGTTGGAAGCTTGCCTTGCAGTTACTAGTCCCTCCCCTTCAGGATAAAGGGCCATACCTATGCAAGCATGGTAAACAATATGCAAACACTCAAGTCTCTATCCCCTGTTAACTTGGTCCCTGGAGAGCACATAACTAGGGGAAGTCCTTGTTCTGGGAGAGACTCCATTTGGAAGCAGCTCACATGATAAAGCTCCAGAAATTTTAATGGACCACAATCTTAAAAGTGAGCTAACGCAGGGCGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGTCCAGCCAACATGGTGAACCCCTGTCTCTACTAAAAATACAGAAATTAGCCTGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTAGGTGAATGAGGTGGGAGAATCACTTGAACCTAGGAGGCAGAGGTTGCAGTGAGGCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCGCAAAAAAAAAAAAAAAAAAAGAAAAGAAATAAGTACAATGTGCACCTATTGGTTCTGTGGCCCACTGTGCTGCTCAGATCACGTTTGGGAAGTTTACTGATGGGCTGAATTTTAAGAGACTACAGAGTCAGTTACTCAGTGTACAGAATTAGTTACATTGACAAACTTGAGGACTTACTGGAAGAGGCCAAACTGGAAAGCAAGGAATCTCATGTCTTACAAAAAATGAGGAAAGGATAGTGGTCTGCAAAAGGGAAATAAGTGACAATGTATTCCCTTGGAAAAAAGTGTTGAGTTCCTTCTTTATGCTGGAAATATGGCAGTGAGTGAGTCAGAAATGATCCCTACTGTCTTGAAACTTATAGTTTGCTAGCAAAGACAAACTCTGAACAAGTCATTACAACTTTGGGAACTGATAACAGGCAGCTCTAATCTAGCCTTGAAATACTTGAAAGAATGTCACTTTGAAGAAGAAACAAACTTGTTCCAGAAAAAATACCTGGGACCTTAGTAGAAGTTGTAGGGAAGGTGACATTGGTTTAGCATAAAAAGCCAAACAGGCTATCGGACAACTAGTTATCCCCCATGAGGTACTGAATTCCTCACCACTAGAGATATCAGGCAGTGGCTGTCAAGAGTGTTCCAAAGGGGATTCTTCATCAGTGATTATTATTAAAGTACACCTGGCTCTTTGCTATGCATATGTTATCTCATTTAATCTAAACAGTACCCTGAAAATTAGGTATTCCTATTATCCAGTTTTACATTTGAGGAATCTCAGGCCAGGTGAAATTACCCCTGCTCAAATAAATGGTAAATGGTTGGAGCCAAAATTCAAAGCCAGGCAGTCTGGCTCCAGAGCTCATGCTCTCAACCACTGTGCCCTGCTGCTGGTACTTAAAAATAACAATGGCAGCTACCATTTGTTCATTGGTGACCTTTATCAGACAGTATGTCTTCCAGATGCCCTCTAAGGGCCAAGAGCCAATAACATAATCCAGATGTTATTTCATAGTCCTAAAATTGGCTCTTAGAAAAATCCTGGTGGAAATGTTGATCTAGTCTCGTTTTAGTTCTGCTTTACCACAGGCAGGTGATCTGGCTGCCTCAAGTGACGCCTCCCCCTACTAGTGAATGAATCAGGGCCAGCAGCAGCTGCAGCTACAGCTCAGG
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CAGCCCAGATCTTTCTGCTTTCCTGACCATGCGTCCAGAAACATGTTCCCACCAAGAAATTTTTGTCTTCTGGACCCTTTCCAAGATGTAACTCTAACTACCTGGACATTCTGAATTCTGCTTCTGGGTAGTTGGTAGGACAGGTAAACAGCATTCTTGGAGCCAACAGACACCAGCCATGCAAATACCCTCTTTCTGTGGACAGGATAGTTTTACTTAAGATAAATGCTTCCACTCACCAGTTTTCTTCAATTCTATCTCCTTTCTGACCATCTCTGTGCTTGGGAAAGTAGCTCTTATCAAACACAGGAGAACTGATCATATTGCTGTTTATTTAAAATCCGGTGTAATGTGGAATTTTTGCAATGTTTCAGGATCCATATGACTTAAATAAGATTTTAAAAATAAATTAGCTGAGCATGGTGTTGCACACCTGTGGTCCTAGCTACTTGGGAAGCTGAGGTAGGAGGATTGCTTGAGCATGGAAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGTCTGGGCAACAGAGGGAGACCCTGTCTGGAAAAAAAATAAAATATGTTTTCTGTTTTTTTTTGTTTTGAGACAGAGCCTCGCTCTGTCACTCAGGCTGGAGTTCAGTGGCATAATCTGGGCTTACTGTAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGGCACCACACCCAGCTAATTTTTGTACTTTTGGTAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTCAAACTCCTGATCGCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGTCACCACGCCTGGCCAAAAAAAGTTATTTACATAAATTCAAACAATAACAGAAGTACATAAAGTAAAAAGAAATAGTCTTTTCTTCCTTACTTCTTATCCAATCCACTGTTAATAGTATGATGTATCTTTTTAGACTTTGTTCTTTATGTATACTTATATGCACGTGTGAATGTTTGAATGTGTGTGTATGTTTTATACTATATATTCTCTGAAACTTGCCTTTTACATTTAACATTAGATTTTGGACATCTTTCCAAATCAGTGCATTTAGATTTATCTTTATTTTTAGAATGCAGTTGCATAGTATTTCATCAAATACTGGGCCATAGGATGTATGTATGTATTTTAAAAAACAAGATGTTTTTAGCAAAAGACAACAGATATTTTTGTGGGTGCATCTGGTTTTAGGCCTGAGGCTAAATGACTTTCAGCAAATTATTCATCTTTGAGCCTCAGTTTCCTTATCTATAAAATGAGGATAGAAATACCTTATGTATCTGCTGAGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTCAGAGGCCGAGGGGGGGGCGGATCACGAGGTCAGGAGATCGAGTCCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAACAAATTAGCAGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAATGGCATGAACCTGGGAGGCAGAGTTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGGAACAGTGTGAGACTCTATCTCAAATAAATAAATAAATAAATAAATACCTTATGTATCAGAACATGTCAAAAAAGGCAAAAAATAAAAAAGAGAAAAGAATTTTACATTGTATTCTCTAAAAAAAAAAAAAAAAAAGAAATACCTTATGTAGTTGTGAAGATTTAAATTCATTCATTAATTTAGCAAACATTTTTTGAGGGCCTTCTGTGTAGTATTGGCTAGTGTATTTGATGGTATTGTATAAACTGAGAAGCCTATATATGGAAGTTCACCATGAGAACACTACAGAAAGAGAATACTACAGGATGTGTGCCTCTCTTTGTCTCTTCTTGCTCATCTTAGTGATATCTCTGAGTCTCTGCTTGATAAGTGCCTCTATACCAACCGCTCTCCTCATCCTGACATCTTGATACAGACTTCTGGAGAAGTGCGGCTGAGTGACTTCTTGCTATGGCAGGTAGGTCATTTCCAAGTACTATTATGTTTGTGTCATGGGGAAACCAACTGTATCCACAGAATGGATCAGAGTGGTCCATCCCCACTCCCAAACAGGCTGGGGCCAGAGTACTTCTGGGGAAAGCTAAAATCTGGAGAAGCATCTCTAGGCTGTGTCTCATAATATTTGATGTCCATTCCTCATCTGTCGCTGGCTTTGCGAATCCAACTATAGTGAAAACTTCATTGTGCCGCTTTTCAAGGAATGGGACTTCTGTCTTGCATCCCTGAGCGTAAGCTCTTGCCTTGGTAACCTGCCAGGGACCCTAGCCCCTCTGGGTTGGAAGCTTGCCTTGCAGTTACTAGTCCCTCCCCTTCAGGATAAAGGGCCATACCTATGCAAGCATGGTAAACAATATGCAAACACTCAAGTCTCTATCCCCTGTTAACTTGGTCCCTGGAGAGCACATAACTAGGGGAAGTCCTTGTTCTGGGAGAGACTCCATTTGGAAGCAGCTCACATGATAAAGCTCCAGAAATTTTAATGGACCACAATCTTAAAAGTGAGCTAACGCAGGGCGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGTCCAGCCAACATGGTGAACCCCTGTCTCTACTAAAAATACAGAAATTAGCCTGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTAGGTGAATGAGGTGGGAGAATCACTTGAACCTAGGAGGCAGAGGTTGCAGTGAGGCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCGCAAAAAAAAAAAAAAAAAAAGAAAAGAAATAAGTACAATGTGCACCTATTGGTTCTGTGGCCCACTGTGCTGCTCAGATCACGTTTGGGAAGTTTACTGATGGGCTGAATTTTAAGAGACTACAGAGTCAGTTACTCAGTGTACAGAATTAGTTACATTGACAAACTTGAGGACTTACTGGAAGAGGCCAAACTGGAAAGCAAGGAATCTCATGTCTTACAAAAAATGAGGAAAGGATAGTGGTCTGCAAAAGGGAAATAAGTGACAATGTATTCCCTTGGAAAAAAGTGTTGAGTTCCTTCTTTATGCTGGAAATATGGCAGTGAGTGAGTCAGAAATGATCCCTACTGTCTTGAAACTTATAGTTTGCTAGCAAAGACAAACTCTGAACAAGTCATTACAACTTTGGGAACTGATAACAGGCAGCTCTAATCTAGCCTTGAAATACTTGAAAGAATGTCACTTTGAAGAAGAAACAAACTTGTTCCAGAAAAAATACCTGGGACCTTAGTAGAAGTTGTAGGGAAGGTGACATTGGTTTAGCATAAAAAGCCAAACAGGCTATCGGACAACTAGTTATCCCCCATGAGGTACTGAATTCCTCACCACTAGAGATATCAGGCAGTGGCTGTCAAGAGTGTTCCAAAGGGGATTCTTCATCAGTGATTATTATTAAAGTACACCTGGCTCTTTGCTATGCATATGTTATCTCATTTAATCTAAACAGTACCCTGAAAATTAGGTATTCCTATTATCCAGTTTTACATTTGAGGAATCTCAGGCCAGGTGAAATTACCCCTGCTCAAATAAATGGTAAATGGTTGGAGCCAAAATTCAAAGCCAGGCAGTCTGGCTCCAGAGCTCATGCTCTCAACCACTGTGCCCTGCTGCTGGTACTTAAAAATAACAATGGCAGCTACCATTTGTTCATTGGTGACCTTTATCAGACAGTATGTCTTCCAGATGCCCTCTAAGGGCCAAGAGCCAATAACATAATCCAGATGTTATTTCATAGTCCTAAAATTGGCTCTTAGAAAAATCCTGGTGGAAATGTTGATCTAGTCTCGTTTTAGTTCTGCTTTACCACAGGCAGGTGATCTGGCTGCCTCAAGTGACGCCTCCCCCTACTAGTGAATGAATCAGGGCCAGCAGCAGCTGCAGCTACAGCTCAGG
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Task1_train_619
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The following genetic variant occurs in DHDDS (dehydrodolichyl diphosphate synthase subunit) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Developmental delay and seizures with or without movement abnormalities
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CAGCCCAGATCTTTCTGCTTTCCTGACCATGCGTCCAGAAACATGTTCCCACCAAGAAATTTTTGTCTTCTGGACCCTTTCCAAGATGTAACTCTAACTACCTGGACATTCTGAATTCTGCTTCTGGGTAGTTGGTAGGACAGGTAAACAGCATTCTTGGAGCCAACAGACACCAGCCATGCAAATACCCTCTTTCTGTGGACAGGATAGTTTTACTTAAGATAAATGCTTCCACTCACCAGTTTTCTTCAATTCTATCTCCTTTCTGACCATCTCTGTGCTTGGGAAAGTAGCTCTTATCAAACACAGGAGAACTGATCATATTGCTGTTTATTTAAAATCCGGTGTAATGTGGAATTTTTGCAATGTTTCAGGATCCATATGACTTAAATAAGATTTTAAAAATAAATTAGCTGAGCATGGTGTTGCACACCTGTGGTCCTAGCTACTTGGGAAGCTGAGGTAGGAGGATTGCTTGAGCATGGAAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGTCTGGGCAACAGAGGGAGACCCTGTCTGGAAAAAAAATAAAATATGTTTTCTGTTTTTTTTTGTTTTGAGACAGAGCCTCGCTCTGTCACTCAGGCTGGAGTTCAGTGGCATAATCTGGGCTTACTGTAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGGCACCACACCCAGCTAATTTTTGTACTTTTGGTAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTCAAACTCCTGATCGCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGTCACCACGCCTGGCCAAAAAAAGTTATTTACATAAATTCAAACAATAACAGAAGTACATAAAGTAAAAAGAAATAGTCTTTTCTTCCTTACTTCTTATCCAATCCACTGTTAATAGTATGATGTATCTTTTTAGACTTTGTTCTTTATGTATACTTATATGCACGTGTGAATGTTTGAATGTGTGTGTATGTTTTATACTATATATTCTCTGAAACTTGCCTTTTACATTTAACATTAGATTTTGGACATCTTTCCAAATCAGTGCATTTAGATTTATCTTTATTTTTAGAATGCAGTTGCATAGTATTTCATCAAATACTGGGCCATAGGATGTATGTATGTATTTTAAAAAACAAGATGTTTTTAGCAAAAGACAACAGATATTTTTGTGGGTGCATCTGGTTTTAGGCCTGAGGCTAAATGACTTTCAGCAAATTATTCATCTTTGAGCCTCAGTTTCCTTATCTATAAAATGAGGATAGAAATACCTTATGTATCTGCTGAGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTCAGAGGCCGAGGGGGGGGCGGATCACGAGGTCAGGAGATCGAGTCCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAACAAATTAGCAGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAATGGCATGAACCTGGGAGGCAGAGTTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGGAACAGTGTGAGACTCTATCTCAAATAAATAAATAAATAAATAAATACCTTATGTATCAGAACATGTCAAAAAAGGCAAAAAATAAAAAAGAGAAAAGAATTTTACATTGTATTCTCTAAAAAAAAAAAAAAAAAAGAAATACCTTATGTAGTTGTGAAGATTTAAATTCATTCATTAATTTAGCAAACATTTTTTGAGGGCCTTCTGTGTAGTATTGGCTAGTGTATTTGATGGTATTGTATAAACTGAGAAGCCTATATATGGAAGTTCACCATGAGAACACTACAGAAAGAGAATACTACAGGATGTGTGCCTCTCTTTGTCTCTTCTTGCTCATCTTAGTGATATCTCTGAGTCTCTGCTTGATAAGTGCCTCTATACCAACCGCTCTCCTCATCCTGACATCTTGATACGGACTTCTGGAGAAGTGCGGCTGAGTGACTTCTTGCTATGGCAGGTAGGTCATTTCCAAGTACTATTATGTTTGTGTCATGGGGAAACCAACTGTATCCACAGAATGGATCAGAGTGGTCCATCCCCACTCCCAAACAGGCTGGGGCCAGAGTACTTCTGGGGAAAGCTAAAATCTGGAGAAGCATCTCTAGGCTGTGTCTCATAATATTTGATGTCCATTCCTCATCTGTCGCTGGCTTTGCGAATCCAACTATAGTGAAAACTTCATTGTGCCGCTTTTCAAGGAATGGGACTTCTGTCTTGCATCCCTGAGCGTAAGCTCTTGCCTTGGTAACCTGCCAGGGACCCTAGCCCCTCTGGGTTGGAAGCTTGCCTTGCAGTTACTAGTCCCTCCCCTTCAGGATAAAGGGCCATACCTATGCAAGCATGGTAAACAATATGCAAACACTCAAGTCTCTATCCCCTGTTAACTTGGTCCCTGGAGAGCACATAACTAGGGGAAGTCCTTGTTCTGGGAGAGACTCCATTTGGAAGCAGCTCACATGATAAAGCTCCAGAAATTTTAATGGACCACAATCTTAAAAGTGAGCTAACGCAGGGCGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGTCCAGCCAACATGGTGAACCCCTGTCTCTACTAAAAATACAGAAATTAGCCTGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTAGGTGAATGAGGTGGGAGAATCACTTGAACCTAGGAGGCAGAGGTTGCAGTGAGGCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCGCAAAAAAAAAAAAAAAAAAAGAAAAGAAATAAGTACAATGTGCACCTATTGGTTCTGTGGCCCACTGTGCTGCTCAGATCACGTTTGGGAAGTTTACTGATGGGCTGAATTTTAAGAGACTACAGAGTCAGTTACTCAGTGTACAGAATTAGTTACATTGACAAACTTGAGGACTTACTGGAAGAGGCCAAACTGGAAAGCAAGGAATCTCATGTCTTACAAAAAATGAGGAAAGGATAGTGGTCTGCAAAAGGGAAATAAGTGACAATGTATTCCCTTGGAAAAAAGTGTTGAGTTCCTTCTTTATGCTGGAAATATGGCAGTGAGTGAGTCAGAAATGATCCCTACTGTCTTGAAACTTATAGTTTGCTAGCAAAGACAAACTCTGAACAAGTCATTACAACTTTGGGAACTGATAACAGGCAGCTCTAATCTAGCCTTGAAATACTTGAAAGAATGTCACTTTGAAGAAGAAACAAACTTGTTCCAGAAAAAATACCTGGGACCTTAGTAGAAGTTGTAGGGAAGGTGACATTGGTTTAGCATAAAAAGCCAAACAGGCTATCGGACAACTAGTTATCCCCCATGAGGTACTGAATTCCTCACCACTAGAGATATCAGGCAGTGGCTGTCAAGAGTGTTCCAAAGGGGATTCTTCATCAGTGATTATTATTAAAGTACACCTGGCTCTTTGCTATGCATATGTTATCTCATTTAATCTAAACAGTACCCTGAAAATTAGGTATTCCTATTATCCAGTTTTACATTTGAGGAATCTCAGGCCAGGTGAAATTACCCCTGCTCAAATAAATGGTAAATGGTTGGAGCCAAAATTCAAAGCCAGGCAGTCTGGCTCCAGAGCTCATGCTCTCAACCACTGTGCCCTGCTGCTGGTACTTAAAAATAACAATGGCAGCTACCATTTGTTCATTGGTGACCTTTATCAGACAGTATGTCTTCCAGATGCCCTCTAAGGGCCAAGAGCCAATAACATAATCCAGATGTTATTTCATAGTCCTAAAATTGGCTCTTAGAAAAATCCTGGTGGAAATGTTGATCTAGTCTCGTTTTAGTTCTGCTTTACCACAGGCAGGTGATCTGGCTGCCTCAAGTGACGCCTCCCCCTACTAGTGAATGAATCAGGGCCAGCAGCAGCTGCAGCTACAGCTCAGG
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CAGCCCAGATCTTTCTGCTTTCCTGACCATGCGTCCAGAAACATGTTCCCACCAAGAAATTTTTGTCTTCTGGACCCTTTCCAAGATGTAACTCTAACTACCTGGACATTCTGAATTCTGCTTCTGGGTAGTTGGTAGGACAGGTAAACAGCATTCTTGGAGCCAACAGACACCAGCCATGCAAATACCCTCTTTCTGTGGACAGGATAGTTTTACTTAAGATAAATGCTTCCACTCACCAGTTTTCTTCAATTCTATCTCCTTTCTGACCATCTCTGTGCTTGGGAAAGTAGCTCTTATCAAACACAGGAGAACTGATCATATTGCTGTTTATTTAAAATCCGGTGTAATGTGGAATTTTTGCAATGTTTCAGGATCCATATGACTTAAATAAGATTTTAAAAATAAATTAGCTGAGCATGGTGTTGCACACCTGTGGTCCTAGCTACTTGGGAAGCTGAGGTAGGAGGATTGCTTGAGCATGGAAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGTCTGGGCAACAGAGGGAGACCCTGTCTGGAAAAAAAATAAAATATGTTTTCTGTTTTTTTTTGTTTTGAGACAGAGCCTCGCTCTGTCACTCAGGCTGGAGTTCAGTGGCATAATCTGGGCTTACTGTAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGGCACCACACCCAGCTAATTTTTGTACTTTTGGTAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTCAAACTCCTGATCGCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGTCACCACGCCTGGCCAAAAAAAGTTATTTACATAAATTCAAACAATAACAGAAGTACATAAAGTAAAAAGAAATAGTCTTTTCTTCCTTACTTCTTATCCAATCCACTGTTAATAGTATGATGTATCTTTTTAGACTTTGTTCTTTATGTATACTTATATGCACGTGTGAATGTTTGAATGTGTGTGTATGTTTTATACTATATATTCTCTGAAACTTGCCTTTTACATTTAACATTAGATTTTGGACATCTTTCCAAATCAGTGCATTTAGATTTATCTTTATTTTTAGAATGCAGTTGCATAGTATTTCATCAAATACTGGGCCATAGGATGTATGTATGTATTTTAAAAAACAAGATGTTTTTAGCAAAAGACAACAGATATTTTTGTGGGTGCATCTGGTTTTAGGCCTGAGGCTAAATGACTTTCAGCAAATTATTCATCTTTGAGCCTCAGTTTCCTTATCTATAAAATGAGGATAGAAATACCTTATGTATCTGCTGAGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTCAGAGGCCGAGGGGGGGGCGGATCACGAGGTCAGGAGATCGAGTCCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAACAAATTAGCAGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAATGGCATGAACCTGGGAGGCAGAGTTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGGAACAGTGTGAGACTCTATCTCAAATAAATAAATAAATAAATAAATACCTTATGTATCAGAACATGTCAAAAAAGGCAAAAAATAAAAAAGAGAAAAGAATTTTACATTGTATTCTCTAAAAAAAAAAAAAAAAAAGAAATACCTTATGTAGTTGTGAAGATTTAAATTCATTCATTAATTTAGCAAACATTTTTTGAGGGCCTTCTGTGTAGTATTGGCTAGTGTATTTGATGGTATTGTATAAACTGAGAAGCCTATATATGGAAGTTCACCATGAGAACACTACAGAAAGAGAATACTACAGGATGTGTGCCTCTCTTTGTCTCTTCTTGCTCATCTTAGTGATATCTCTGAGTCTCTGCTTGATAAGTGCCTCTATACCAACCGCTCTCCTCATCCTGACATCTTGATACAGACTTCTGGAGAAGTGCGGCTGAGTGACTTCTTGCTATGGCAGGTAGGTCATTTCCAAGTACTATTATGTTTGTGTCATGGGGAAACCAACTGTATCCACAGAATGGATCAGAGTGGTCCATCCCCACTCCCAAACAGGCTGGGGCCAGAGTACTTCTGGGGAAAGCTAAAATCTGGAGAAGCATCTCTAGGCTGTGTCTCATAATATTTGATGTCCATTCCTCATCTGTCGCTGGCTTTGCGAATCCAACTATAGTGAAAACTTCATTGTGCCGCTTTTCAAGGAATGGGACTTCTGTCTTGCATCCCTGAGCGTAAGCTCTTGCCTTGGTAACCTGCCAGGGACCCTAGCCCCTCTGGGTTGGAAGCTTGCCTTGCAGTTACTAGTCCCTCCCCTTCAGGATAAAGGGCCATACCTATGCAAGCATGGTAAACAATATGCAAACACTCAAGTCTCTATCCCCTGTTAACTTGGTCCCTGGAGAGCACATAACTAGGGGAAGTCCTTGTTCTGGGAGAGACTCCATTTGGAAGCAGCTCACATGATAAAGCTCCAGAAATTTTAATGGACCACAATCTTAAAAGTGAGCTAACGCAGGGCGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGTCCAGCCAACATGGTGAACCCCTGTCTCTACTAAAAATACAGAAATTAGCCTGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTAGGTGAATGAGGTGGGAGAATCACTTGAACCTAGGAGGCAGAGGTTGCAGTGAGGCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCGCAAAAAAAAAAAAAAAAAAAGAAAAGAAATAAGTACAATGTGCACCTATTGGTTCTGTGGCCCACTGTGCTGCTCAGATCACGTTTGGGAAGTTTACTGATGGGCTGAATTTTAAGAGACTACAGAGTCAGTTACTCAGTGTACAGAATTAGTTACATTGACAAACTTGAGGACTTACTGGAAGAGGCCAAACTGGAAAGCAAGGAATCTCATGTCTTACAAAAAATGAGGAAAGGATAGTGGTCTGCAAAAGGGAAATAAGTGACAATGTATTCCCTTGGAAAAAAGTGTTGAGTTCCTTCTTTATGCTGGAAATATGGCAGTGAGTGAGTCAGAAATGATCCCTACTGTCTTGAAACTTATAGTTTGCTAGCAAAGACAAACTCTGAACAAGTCATTACAACTTTGGGAACTGATAACAGGCAGCTCTAATCTAGCCTTGAAATACTTGAAAGAATGTCACTTTGAAGAAGAAACAAACTTGTTCCAGAAAAAATACCTGGGACCTTAGTAGAAGTTGTAGGGAAGGTGACATTGGTTTAGCATAAAAAGCCAAACAGGCTATCGGACAACTAGTTATCCCCCATGAGGTACTGAATTCCTCACCACTAGAGATATCAGGCAGTGGCTGTCAAGAGTGTTCCAAAGGGGATTCTTCATCAGTGATTATTATTAAAGTACACCTGGCTCTTTGCTATGCATATGTTATCTCATTTAATCTAAACAGTACCCTGAAAATTAGGTATTCCTATTATCCAGTTTTACATTTGAGGAATCTCAGGCCAGGTGAAATTACCCCTGCTCAAATAAATGGTAAATGGTTGGAGCCAAAATTCAAAGCCAGGCAGTCTGGCTCCAGAGCTCATGCTCTCAACCACTGTGCCCTGCTGCTGGTACTTAAAAATAACAATGGCAGCTACCATTTGTTCATTGGTGACCTTTATCAGACAGTATGTCTTCCAGATGCCCTCTAAGGGCCAAGAGCCAATAACATAATCCAGATGTTATTTCATAGTCCTAAAATTGGCTCTTAGAAAAATCCTGGTGGAAATGTTGATCTAGTCTCGTTTTAGTTCTGCTTTACCACAGGCAGGTGATCTGGCTGCCTCAAGTGACGCCTCCCCCTACTAGTGAATGAATCAGGGCCAGCAGCAGCTGCAGCTACAGCTCAGG
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Task1_train_620
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Here is a mutation in DHDDS (dehydrodolichyl diphosphate synthase subunit) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Developmental delay and seizures with or without movement abnormalities
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TTTCCTGACCATGCGTCCAGAAACATGTTCCCACCAAGAAATTTTTGTCTTCTGGACCCTTTCCAAGATGTAACTCTAACTACCTGGACATTCTGAATTCTGCTTCTGGGTAGTTGGTAGGACAGGTAAACAGCATTCTTGGAGCCAACAGACACCAGCCATGCAAATACCCTCTTTCTGTGGACAGGATAGTTTTACTTAAGATAAATGCTTCCACTCACCAGTTTTCTTCAATTCTATCTCCTTTCTGACCATCTCTGTGCTTGGGAAAGTAGCTCTTATCAAACACAGGAGAACTGATCATATTGCTGTTTATTTAAAATCCGGTGTAATGTGGAATTTTTGCAATGTTTCAGGATCCATATGACTTAAATAAGATTTTAAAAATAAATTAGCTGAGCATGGTGTTGCACACCTGTGGTCCTAGCTACTTGGGAAGCTGAGGTAGGAGGATTGCTTGAGCATGGAAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGTCTGGGCAACAGAGGGAGACCCTGTCTGGAAAAAAAATAAAATATGTTTTCTGTTTTTTTTTGTTTTGAGACAGAGCCTCGCTCTGTCACTCAGGCTGGAGTTCAGTGGCATAATCTGGGCTTACTGTAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGGCACCACACCCAGCTAATTTTTGTACTTTTGGTAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTCAAACTCCTGATCGCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGTCACCACGCCTGGCCAAAAAAAGTTATTTACATAAATTCAAACAATAACAGAAGTACATAAAGTAAAAAGAAATAGTCTTTTCTTCCTTACTTCTTATCCAATCCACTGTTAATAGTATGATGTATCTTTTTAGACTTTGTTCTTTATGTATACTTATATGCACGTGTGAATGTTTGAATGTGTGTGTATGTTTTATACTATATATTCTCTGAAACTTGCCTTTTACATTTAACATTAGATTTTGGACATCTTTCCAAATCAGTGCATTTAGATTTATCTTTATTTTTAGAATGCAGTTGCATAGTATTTCATCAAATACTGGGCCATAGGATGTATGTATGTATTTTAAAAAACAAGATGTTTTTAGCAAAAGACAACAGATATTTTTGTGGGTGCATCTGGTTTTAGGCCTGAGGCTAAATGACTTTCAGCAAATTATTCATCTTTGAGCCTCAGTTTCCTTATCTATAAAATGAGGATAGAAATACCTTATGTATCTGCTGAGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTCAGAGGCCGAGGGGGGGGCGGATCACGAGGTCAGGAGATCGAGTCCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAACAAATTAGCAGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAATGGCATGAACCTGGGAGGCAGAGTTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGGAACAGTGTGAGACTCTATCTCAAATAAATAAATAAATAAATAAATACCTTATGTATCAGAACATGTCAAAAAAGGCAAAAAATAAAAAAGAGAAAAGAATTTTACATTGTATTCTCTAAAAAAAAAAAAAAAAAAGAAATACCTTATGTAGTTGTGAAGATTTAAATTCATTCATTAATTTAGCAAACATTTTTTGAGGGCCTTCTGTGTAGTATTGGCTAGTGTATTTGATGGTATTGTATAAACTGAGAAGCCTATATATGGAAGTTCACCATGAGAACACTACAGAAAGAGAATACTACAGGATGTGTGCCTCTCTTTGTCTCTTCTTGCTCATCTTAGTGATATCTCTGAGTCTCTGCTTGATAAGTGCCTCTATACCAACCGCTCTCCTCATCCTGACATCTTGATACGGACTTCTGGAGAAGTGCGGCTGAGTGACTTCTTGCTATGGCAGGTAGGTCATTTCCAAGTACTATTATGTTTGTGTCATGGGGAAACCAACTGTATCCACAGAATGGATCAGAGTGGTCCATCCCCACTCCCAAACAGGCTGGGGCCAGAGTACTTCTGGGGAAAGCTAAAATCTGGAGAAGCATCTCTAGGCTGTGTCTCATAATATTTGATGTCCATTCCTCATCTGTCGCTGGCTTTGCGAATCCAACTATAGTGAAAACTTCATTGTGCCGCTTTTCAAGGAATGGGACTTCTGTCTTGCATCCCTGAGCGTAAGCTCTTGCCTTGGTAACCTGCCAGGGACCCTAGCCCCTCTGGGTTGGAAGCTTGCCTTGCAGTTACTAGTCCCTCCCCTTCAGGATAAAGGGCCATACCTATGCAAGCATGGTAAACAATATGCAAACACTCAAGTCTCTATCCCCTGTTAACTTGGTCCCTGGAGAGCACATAACTAGGGGAAGTCCTTGTTCTGGGAGAGACTCCATTTGGAAGCAGCTCACATGATAAAGCTCCAGAAATTTTAATGGACCACAATCTTAAAAGTGAGCTAACGCAGGGCGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGTCCAGCCAACATGGTGAACCCCTGTCTCTACTAAAAATACAGAAATTAGCCTGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTAGGTGAATGAGGTGGGAGAATCACTTGAACCTAGGAGGCAGAGGTTGCAGTGAGGCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCGCAAAAAAAAAAAAAAAAAAAGAAAAGAAATAAGTACAATGTGCACCTATTGGTTCTGTGGCCCACTGTGCTGCTCAGATCACGTTTGGGAAGTTTACTGATGGGCTGAATTTTAAGAGACTACAGAGTCAGTTACTCAGTGTACAGAATTAGTTACATTGACAAACTTGAGGACTTACTGGAAGAGGCCAAACTGGAAAGCAAGGAATCTCATGTCTTACAAAAAATGAGGAAAGGATAGTGGTCTGCAAAAGGGAAATAAGTGACAATGTATTCCCTTGGAAAAAAGTGTTGAGTTCCTTCTTTATGCTGGAAATATGGCAGTGAGTGAGTCAGAAATGATCCCTACTGTCTTGAAACTTATAGTTTGCTAGCAAAGACAAACTCTGAACAAGTCATTACAACTTTGGGAACTGATAACAGGCAGCTCTAATCTAGCCTTGAAATACTTGAAAGAATGTCACTTTGAAGAAGAAACAAACTTGTTCCAGAAAAAATACCTGGGACCTTAGTAGAAGTTGTAGGGAAGGTGACATTGGTTTAGCATAAAAAGCCAAACAGGCTATCGGACAACTAGTTATCCCCCATGAGGTACTGAATTCCTCACCACTAGAGATATCAGGCAGTGGCTGTCAAGAGTGTTCCAAAGGGGATTCTTCATCAGTGATTATTATTAAAGTACACCTGGCTCTTTGCTATGCATATGTTATCTCATTTAATCTAAACAGTACCCTGAAAATTAGGTATTCCTATTATCCAGTTTTACATTTGAGGAATCTCAGGCCAGGTGAAATTACCCCTGCTCAAATAAATGGTAAATGGTTGGAGCCAAAATTCAAAGCCAGGCAGTCTGGCTCCAGAGCTCATGCTCTCAACCACTGTGCCCTGCTGCTGGTACTTAAAAATAACAATGGCAGCTACCATTTGTTCATTGGTGACCTTTATCAGACAGTATGTCTTCCAGATGCCCTCTAAGGGCCAAGAGCCAATAACATAATCCAGATGTTATTTCATAGTCCTAAAATTGGCTCTTAGAAAAATCCTGGTGGAAATGTTGATCTAGTCTCGTTTTAGTTCTGCTTTACCACAGGCAGGTGATCTGGCTGCCTCAAGTGACGCCTCCCCCTACTAGTGAATGAATCAGGGCCAGCAGCAGCTGCAGCTACAGCTCAGGATGCCTGTAACATTGTCA
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TTTCCTGACCATGCGTCCAGAAACATGTTCCCACCAAGAAATTTTTGTCTTCTGGACCCTTTCCAAGATGTAACTCTAACTACCTGGACATTCTGAATTCTGCTTCTGGGTAGTTGGTAGGACAGGTAAACAGCATTCTTGGAGCCAACAGACACCAGCCATGCAAATACCCTCTTTCTGTGGACAGGATAGTTTTACTTAAGATAAATGCTTCCACTCACCAGTTTTCTTCAATTCTATCTCCTTTCTGACCATCTCTGTGCTTGGGAAAGTAGCTCTTATCAAACACAGGAGAACTGATCATATTGCTGTTTATTTAAAATCCGGTGTAATGTGGAATTTTTGCAATGTTTCAGGATCCATATGACTTAAATAAGATTTTAAAAATAAATTAGCTGAGCATGGTGTTGCACACCTGTGGTCCTAGCTACTTGGGAAGCTGAGGTAGGAGGATTGCTTGAGCATGGAAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGTCTGGGCAACAGAGGGAGACCCTGTCTGGAAAAAAAATAAAATATGTTTTCTGTTTTTTTTTGTTTTGAGACAGAGCCTCGCTCTGTCACTCAGGCTGGAGTTCAGTGGCATAATCTGGGCTTACTGTAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGGCACCACACCCAGCTAATTTTTGTACTTTTGGTAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTCAAACTCCTGATCGCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGTCACCACGCCTGGCCAAAAAAAGTTATTTACATAAATTCAAACAATAACAGAAGTACATAAAGTAAAAAGAAATAGTCTTTTCTTCCTTACTTCTTATCCAATCCACTGTTAATAGTATGATGTATCTTTTTAGACTTTGTTCTTTATGTATACTTATATGCACGTGTGAATGTTTGAATGTGTGTGTATGTTTTATACTATATATTCTCTGAAACTTGCCTTTTACATTTAACATTAGATTTTGGACATCTTTCCAAATCAGTGCATTTAGATTTATCTTTATTTTTAGAATGCAGTTGCATAGTATTTCATCAAATACTGGGCCATAGGATGTATGTATGTATTTTAAAAAACAAGATGTTTTTAGCAAAAGACAACAGATATTTTTGTGGGTGCATCTGGTTTTAGGCCTGAGGCTAAATGACTTTCAGCAAATTATTCATCTTTGAGCCTCAGTTTCCTTATCTATAAAATGAGGATAGAAATACCTTATGTATCTGCTGAGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTCAGAGGCCGAGGGGGGGGCGGATCACGAGGTCAGGAGATCGAGTCCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAACAAATTAGCAGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAATGGCATGAACCTGGGAGGCAGAGTTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGGAACAGTGTGAGACTCTATCTCAAATAAATAAATAAATAAATAAATACCTTATGTATCAGAACATGTCAAAAAAGGCAAAAAATAAAAAAGAGAAAAGAATTTTACATTGTATTCTCTAAAAAAAAAAAAAAAAAAGAAATACCTTATGTAGTTGTGAAGATTTAAATTCATTCATTAATTTAGCAAACATTTTTTGAGGGCCTTCTGTGTAGTATTGGCTAGTGTATTTGATGGTATTGTATAAACTGAGAAGCCTATATATGGAAGTTCACCATGAGAACACTACAGAAAGAGAATACTACAGGATGTGTGCCTCTCTTTGTCTCTTCTTGCTCATCTTAGTGATATCTCTGAGTCTCTGCTTGATAAGTGCCTCTATACCAACCGCTCTCCTCATCCTGACATCTTGATACGGACTTCTGGAGAAGTGCAGCTGAGTGACTTCTTGCTATGGCAGGTAGGTCATTTCCAAGTACTATTATGTTTGTGTCATGGGGAAACCAACTGTATCCACAGAATGGATCAGAGTGGTCCATCCCCACTCCCAAACAGGCTGGGGCCAGAGTACTTCTGGGGAAAGCTAAAATCTGGAGAAGCATCTCTAGGCTGTGTCTCATAATATTTGATGTCCATTCCTCATCTGTCGCTGGCTTTGCGAATCCAACTATAGTGAAAACTTCATTGTGCCGCTTTTCAAGGAATGGGACTTCTGTCTTGCATCCCTGAGCGTAAGCTCTTGCCTTGGTAACCTGCCAGGGACCCTAGCCCCTCTGGGTTGGAAGCTTGCCTTGCAGTTACTAGTCCCTCCCCTTCAGGATAAAGGGCCATACCTATGCAAGCATGGTAAACAATATGCAAACACTCAAGTCTCTATCCCCTGTTAACTTGGTCCCTGGAGAGCACATAACTAGGGGAAGTCCTTGTTCTGGGAGAGACTCCATTTGGAAGCAGCTCACATGATAAAGCTCCAGAAATTTTAATGGACCACAATCTTAAAAGTGAGCTAACGCAGGGCGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGTCCAGCCAACATGGTGAACCCCTGTCTCTACTAAAAATACAGAAATTAGCCTGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTAGGTGAATGAGGTGGGAGAATCACTTGAACCTAGGAGGCAGAGGTTGCAGTGAGGCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCGCAAAAAAAAAAAAAAAAAAAGAAAAGAAATAAGTACAATGTGCACCTATTGGTTCTGTGGCCCACTGTGCTGCTCAGATCACGTTTGGGAAGTTTACTGATGGGCTGAATTTTAAGAGACTACAGAGTCAGTTACTCAGTGTACAGAATTAGTTACATTGACAAACTTGAGGACTTACTGGAAGAGGCCAAACTGGAAAGCAAGGAATCTCATGTCTTACAAAAAATGAGGAAAGGATAGTGGTCTGCAAAAGGGAAATAAGTGACAATGTATTCCCTTGGAAAAAAGTGTTGAGTTCCTTCTTTATGCTGGAAATATGGCAGTGAGTGAGTCAGAAATGATCCCTACTGTCTTGAAACTTATAGTTTGCTAGCAAAGACAAACTCTGAACAAGTCATTACAACTTTGGGAACTGATAACAGGCAGCTCTAATCTAGCCTTGAAATACTTGAAAGAATGTCACTTTGAAGAAGAAACAAACTTGTTCCAGAAAAAATACCTGGGACCTTAGTAGAAGTTGTAGGGAAGGTGACATTGGTTTAGCATAAAAAGCCAAACAGGCTATCGGACAACTAGTTATCCCCCATGAGGTACTGAATTCCTCACCACTAGAGATATCAGGCAGTGGCTGTCAAGAGTGTTCCAAAGGGGATTCTTCATCAGTGATTATTATTAAAGTACACCTGGCTCTTTGCTATGCATATGTTATCTCATTTAATCTAAACAGTACCCTGAAAATTAGGTATTCCTATTATCCAGTTTTACATTTGAGGAATCTCAGGCCAGGTGAAATTACCCCTGCTCAAATAAATGGTAAATGGTTGGAGCCAAAATTCAAAGCCAGGCAGTCTGGCTCCAGAGCTCATGCTCTCAACCACTGTGCCCTGCTGCTGGTACTTAAAAATAACAATGGCAGCTACCATTTGTTCATTGGTGACCTTTATCAGACAGTATGTCTTCCAGATGCCCTCTAAGGGCCAAGAGCCAATAACATAATCCAGATGTTATTTCATAGTCCTAAAATTGGCTCTTAGAAAAATCCTGGTGGAAATGTTGATCTAGTCTCGTTTTAGTTCTGCTTTACCACAGGCAGGTGATCTGGCTGCCTCAAGTGACGCCTCCCCCTACTAGTGAATGAATCAGGGCCAGCAGCAGCTGCAGCTACAGCTCAGGATGCCTGTAACATTGTCA
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Task1_train_621
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This variant affects gene DHDDS (dehydrodolichyl diphosphate synthase subunit) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Retinitis pigmentosa 59
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TTTCCTGACCATGCGTCCAGAAACATGTTCCCACCAAGAAATTTTTGTCTTCTGGACCCTTTCCAAGATGTAACTCTAACTACCTGGACATTCTGAATTCTGCTTCTGGGTAGTTGGTAGGACAGGTAAACAGCATTCTTGGAGCCAACAGACACCAGCCATGCAAATACCCTCTTTCTGTGGACAGGATAGTTTTACTTAAGATAAATGCTTCCACTCACCAGTTTTCTTCAATTCTATCTCCTTTCTGACCATCTCTGTGCTTGGGAAAGTAGCTCTTATCAAACACAGGAGAACTGATCATATTGCTGTTTATTTAAAATCCGGTGTAATGTGGAATTTTTGCAATGTTTCAGGATCCATATGACTTAAATAAGATTTTAAAAATAAATTAGCTGAGCATGGTGTTGCACACCTGTGGTCCTAGCTACTTGGGAAGCTGAGGTAGGAGGATTGCTTGAGCATGGAAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGTCTGGGCAACAGAGGGAGACCCTGTCTGGAAAAAAAATAAAATATGTTTTCTGTTTTTTTTTGTTTTGAGACAGAGCCTCGCTCTGTCACTCAGGCTGGAGTTCAGTGGCATAATCTGGGCTTACTGTAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGGCACCACACCCAGCTAATTTTTGTACTTTTGGTAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTCAAACTCCTGATCGCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGTCACCACGCCTGGCCAAAAAAAGTTATTTACATAAATTCAAACAATAACAGAAGTACATAAAGTAAAAAGAAATAGTCTTTTCTTCCTTACTTCTTATCCAATCCACTGTTAATAGTATGATGTATCTTTTTAGACTTTGTTCTTTATGTATACTTATATGCACGTGTGAATGTTTGAATGTGTGTGTATGTTTTATACTATATATTCTCTGAAACTTGCCTTTTACATTTAACATTAGATTTTGGACATCTTTCCAAATCAGTGCATTTAGATTTATCTTTATTTTTAGAATGCAGTTGCATAGTATTTCATCAAATACTGGGCCATAGGATGTATGTATGTATTTTAAAAAACAAGATGTTTTTAGCAAAAGACAACAGATATTTTTGTGGGTGCATCTGGTTTTAGGCCTGAGGCTAAATGACTTTCAGCAAATTATTCATCTTTGAGCCTCAGTTTCCTTATCTATAAAATGAGGATAGAAATACCTTATGTATCTGCTGAGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTCAGAGGCCGAGGGGGGGGCGGATCACGAGGTCAGGAGATCGAGTCCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAACAAATTAGCAGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAATGGCATGAACCTGGGAGGCAGAGTTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGGAACAGTGTGAGACTCTATCTCAAATAAATAAATAAATAAATAAATACCTTATGTATCAGAACATGTCAAAAAAGGCAAAAAATAAAAAAGAGAAAAGAATTTTACATTGTATTCTCTAAAAAAAAAAAAAAAAAAGAAATACCTTATGTAGTTGTGAAGATTTAAATTCATTCATTAATTTAGCAAACATTTTTTGAGGGCCTTCTGTGTAGTATTGGCTAGTGTATTTGATGGTATTGTATAAACTGAGAAGCCTATATATGGAAGTTCACCATGAGAACACTACAGAAAGAGAATACTACAGGATGTGTGCCTCTCTTTGTCTCTTCTTGCTCATCTTAGTGATATCTCTGAGTCTCTGCTTGATAAGTGCCTCTATACCAACCGCTCTCCTCATCCTGACATCTTGATACGGACTTCTGGAGAAGTGCGGCTGAGTGACTTCTTGCTATGGCAGGTAGGTCATTTCCAAGTACTATTATGTTTGTGTCATGGGGAAACCAACTGTATCCACAGAATGGATCAGAGTGGTCCATCCCCACTCCCAAACAGGCTGGGGCCAGAGTACTTCTGGGGAAAGCTAAAATCTGGAGAAGCATCTCTAGGCTGTGTCTCATAATATTTGATGTCCATTCCTCATCTGTCGCTGGCTTTGCGAATCCAACTATAGTGAAAACTTCATTGTGCCGCTTTTCAAGGAATGGGACTTCTGTCTTGCATCCCTGAGCGTAAGCTCTTGCCTTGGTAACCTGCCAGGGACCCTAGCCCCTCTGGGTTGGAAGCTTGCCTTGCAGTTACTAGTCCCTCCCCTTCAGGATAAAGGGCCATACCTATGCAAGCATGGTAAACAATATGCAAACACTCAAGTCTCTATCCCCTGTTAACTTGGTCCCTGGAGAGCACATAACTAGGGGAAGTCCTTGTTCTGGGAGAGACTCCATTTGGAAGCAGCTCACATGATAAAGCTCCAGAAATTTTAATGGACCACAATCTTAAAAGTGAGCTAACGCAGGGCGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGTCCAGCCAACATGGTGAACCCCTGTCTCTACTAAAAATACAGAAATTAGCCTGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTAGGTGAATGAGGTGGGAGAATCACTTGAACCTAGGAGGCAGAGGTTGCAGTGAGGCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCGCAAAAAAAAAAAAAAAAAAAGAAAAGAAATAAGTACAATGTGCACCTATTGGTTCTGTGGCCCACTGTGCTGCTCAGATCACGTTTGGGAAGTTTACTGATGGGCTGAATTTTAAGAGACTACAGAGTCAGTTACTCAGTGTACAGAATTAGTTACATTGACAAACTTGAGGACTTACTGGAAGAGGCCAAACTGGAAAGCAAGGAATCTCATGTCTTACAAAAAATGAGGAAAGGATAGTGGTCTGCAAAAGGGAAATAAGTGACAATGTATTCCCTTGGAAAAAAGTGTTGAGTTCCTTCTTTATGCTGGAAATATGGCAGTGAGTGAGTCAGAAATGATCCCTACTGTCTTGAAACTTATAGTTTGCTAGCAAAGACAAACTCTGAACAAGTCATTACAACTTTGGGAACTGATAACAGGCAGCTCTAATCTAGCCTTGAAATACTTGAAAGAATGTCACTTTGAAGAAGAAACAAACTTGTTCCAGAAAAAATACCTGGGACCTTAGTAGAAGTTGTAGGGAAGGTGACATTGGTTTAGCATAAAAAGCCAAACAGGCTATCGGACAACTAGTTATCCCCCATGAGGTACTGAATTCCTCACCACTAGAGATATCAGGCAGTGGCTGTCAAGAGTGTTCCAAAGGGGATTCTTCATCAGTGATTATTATTAAAGTACACCTGGCTCTTTGCTATGCATATGTTATCTCATTTAATCTAAACAGTACCCTGAAAATTAGGTATTCCTATTATCCAGTTTTACATTTGAGGAATCTCAGGCCAGGTGAAATTACCCCTGCTCAAATAAATGGTAAATGGTTGGAGCCAAAATTCAAAGCCAGGCAGTCTGGCTCCAGAGCTCATGCTCTCAACCACTGTGCCCTGCTGCTGGTACTTAAAAATAACAATGGCAGCTACCATTTGTTCATTGGTGACCTTTATCAGACAGTATGTCTTCCAGATGCCCTCTAAGGGCCAAGAGCCAATAACATAATCCAGATGTTATTTCATAGTCCTAAAATTGGCTCTTAGAAAAATCCTGGTGGAAATGTTGATCTAGTCTCGTTTTAGTTCTGCTTTACCACAGGCAGGTGATCTGGCTGCCTCAAGTGACGCCTCCCCCTACTAGTGAATGAATCAGGGCCAGCAGCAGCTGCAGCTACAGCTCAGGATGCCTGTAACATTGTCA
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TTTCCTGACCATGCGTCCAGAAACATGTTCCCACCAAGAAATTTTTGTCTTCTGGACCCTTTCCAAGATGTAACTCTAACTACCTGGACATTCTGAATTCTGCTTCTGGGTAGTTGGTAGGACAGGTAAACAGCATTCTTGGAGCCAACAGACACCAGCCATGCAAATACCCTCTTTCTGTGGACAGGATAGTTTTACTTAAGATAAATGCTTCCACTCACCAGTTTTCTTCAATTCTATCTCCTTTCTGACCATCTCTGTGCTTGGGAAAGTAGCTCTTATCAAACACAGGAGAACTGATCATATTGCTGTTTATTTAAAATCCGGTGTAATGTGGAATTTTTGCAATGTTTCAGGATCCATATGACTTAAATAAGATTTTAAAAATAAATTAGCTGAGCATGGTGTTGCACACCTGTGGTCCTAGCTACTTGGGAAGCTGAGGTAGGAGGATTGCTTGAGCATGGAAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGTCTGGGCAACAGAGGGAGACCCTGTCTGGAAAAAAAATAAAATATGTTTTCTGTTTTTTTTTGTTTTGAGACAGAGCCTCGCTCTGTCACTCAGGCTGGAGTTCAGTGGCATAATCTGGGCTTACTGTAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGGCACCACACCCAGCTAATTTTTGTACTTTTGGTAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTCAAACTCCTGATCGCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGTCACCACGCCTGGCCAAAAAAAGTTATTTACATAAATTCAAACAATAACAGAAGTACATAAAGTAAAAAGAAATAGTCTTTTCTTCCTTACTTCTTATCCAATCCACTGTTAATAGTATGATGTATCTTTTTAGACTTTGTTCTTTATGTATACTTATATGCACGTGTGAATGTTTGAATGTGTGTGTATGTTTTATACTATATATTCTCTGAAACTTGCCTTTTACATTTAACATTAGATTTTGGACATCTTTCCAAATCAGTGCATTTAGATTTATCTTTATTTTTAGAATGCAGTTGCATAGTATTTCATCAAATACTGGGCCATAGGATGTATGTATGTATTTTAAAAAACAAGATGTTTTTAGCAAAAGACAACAGATATTTTTGTGGGTGCATCTGGTTTTAGGCCTGAGGCTAAATGACTTTCAGCAAATTATTCATCTTTGAGCCTCAGTTTCCTTATCTATAAAATGAGGATAGAAATACCTTATGTATCTGCTGAGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTCAGAGGCCGAGGGGGGGGCGGATCACGAGGTCAGGAGATCGAGTCCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAACAAATTAGCAGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAATGGCATGAACCTGGGAGGCAGAGTTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGGAACAGTGTGAGACTCTATCTCAAATAAATAAATAAATAAATAAATACCTTATGTATCAGAACATGTCAAAAAAGGCAAAAAATAAAAAAGAGAAAAGAATTTTACATTGTATTCTCTAAAAAAAAAAAAAAAAAAGAAATACCTTATGTAGTTGTGAAGATTTAAATTCATTCATTAATTTAGCAAACATTTTTTGAGGGCCTTCTGTGTAGTATTGGCTAGTGTATTTGATGGTATTGTATAAACTGAGAAGCCTATATATGGAAGTTCACCATGAGAACACTACAGAAAGAGAATACTACAGGATGTGTGCCTCTCTTTGTCTCTTCTTGCTCATCTTAGTGATATCTCTGAGTCTCTGCTTGATAAGTGCCTCTATACCAACCGCTCTCCTCATCCTGACATCTTGATACGGACTTCTGGAGAAGTGCAGCTGAGTGACTTCTTGCTATGGCAGGTAGGTCATTTCCAAGTACTATTATGTTTGTGTCATGGGGAAACCAACTGTATCCACAGAATGGATCAGAGTGGTCCATCCCCACTCCCAAACAGGCTGGGGCCAGAGTACTTCTGGGGAAAGCTAAAATCTGGAGAAGCATCTCTAGGCTGTGTCTCATAATATTTGATGTCCATTCCTCATCTGTCGCTGGCTTTGCGAATCCAACTATAGTGAAAACTTCATTGTGCCGCTTTTCAAGGAATGGGACTTCTGTCTTGCATCCCTGAGCGTAAGCTCTTGCCTTGGTAACCTGCCAGGGACCCTAGCCCCTCTGGGTTGGAAGCTTGCCTTGCAGTTACTAGTCCCTCCCCTTCAGGATAAAGGGCCATACCTATGCAAGCATGGTAAACAATATGCAAACACTCAAGTCTCTATCCCCTGTTAACTTGGTCCCTGGAGAGCACATAACTAGGGGAAGTCCTTGTTCTGGGAGAGACTCCATTTGGAAGCAGCTCACATGATAAAGCTCCAGAAATTTTAATGGACCACAATCTTAAAAGTGAGCTAACGCAGGGCGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGTCCAGCCAACATGGTGAACCCCTGTCTCTACTAAAAATACAGAAATTAGCCTGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTAGGTGAATGAGGTGGGAGAATCACTTGAACCTAGGAGGCAGAGGTTGCAGTGAGGCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCGCAAAAAAAAAAAAAAAAAAAGAAAAGAAATAAGTACAATGTGCACCTATTGGTTCTGTGGCCCACTGTGCTGCTCAGATCACGTTTGGGAAGTTTACTGATGGGCTGAATTTTAAGAGACTACAGAGTCAGTTACTCAGTGTACAGAATTAGTTACATTGACAAACTTGAGGACTTACTGGAAGAGGCCAAACTGGAAAGCAAGGAATCTCATGTCTTACAAAAAATGAGGAAAGGATAGTGGTCTGCAAAAGGGAAATAAGTGACAATGTATTCCCTTGGAAAAAAGTGTTGAGTTCCTTCTTTATGCTGGAAATATGGCAGTGAGTGAGTCAGAAATGATCCCTACTGTCTTGAAACTTATAGTTTGCTAGCAAAGACAAACTCTGAACAAGTCATTACAACTTTGGGAACTGATAACAGGCAGCTCTAATCTAGCCTTGAAATACTTGAAAGAATGTCACTTTGAAGAAGAAACAAACTTGTTCCAGAAAAAATACCTGGGACCTTAGTAGAAGTTGTAGGGAAGGTGACATTGGTTTAGCATAAAAAGCCAAACAGGCTATCGGACAACTAGTTATCCCCCATGAGGTACTGAATTCCTCACCACTAGAGATATCAGGCAGTGGCTGTCAAGAGTGTTCCAAAGGGGATTCTTCATCAGTGATTATTATTAAAGTACACCTGGCTCTTTGCTATGCATATGTTATCTCATTTAATCTAAACAGTACCCTGAAAATTAGGTATTCCTATTATCCAGTTTTACATTTGAGGAATCTCAGGCCAGGTGAAATTACCCCTGCTCAAATAAATGGTAAATGGTTGGAGCCAAAATTCAAAGCCAGGCAGTCTGGCTCCAGAGCTCATGCTCTCAACCACTGTGCCCTGCTGCTGGTACTTAAAAATAACAATGGCAGCTACCATTTGTTCATTGGTGACCTTTATCAGACAGTATGTCTTCCAGATGCCCTCTAAGGGCCAAGAGCCAATAACATAATCCAGATGTTATTTCATAGTCCTAAAATTGGCTCTTAGAAAAATCCTGGTGGAAATGTTGATCTAGTCTCGTTTTAGTTCTGCTTTACCACAGGCAGGTGATCTGGCTGCCTCAAGTGACGCCTCCCCCTACTAGTGAATGAATCAGGGCCAGCAGCAGCTGCAGCTACAGCTCAGGATGCCTGTAACATTGTCA
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Task1_train_622
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The following genetic variant occurs in ARID1A (AT-rich interaction domain 1A) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Intellectual disability, autosomal dominant 14
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CCGAGATTTCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAGAAAATCTGGGTGTTAGCTGGACATGGTGGTGCATGCCTCATAGTCTTAGGCACTCAGGAGGCTGAGGAAGGCAGATTGTTTGAGCTCAGGAGATTAAGGCTGCAGTAAGCTATGATCACACCACTGCATTCCAGCCAGGGTGCCAGAGCAATACCCTGTCTCAAGAAAATAAATTAAAGAAAAATAATATCTGGATGTTGCATAGTTCTAGTTTTGGGGACCCATAAATGTTTTCCTTTTAATCCTTACTAGATGATCACACAGCACTATTTGGCTCCAGTTCAAATCTAAAAGCTCAGAGTCTAACCTTTGTCTCTCTCACTTTCCATCTTCTTCCTTAGGCCGCCAGGCTACCCCAATATGAATCAAGGGGGCATGATGGGAACTGGACCTCCTTATGGACAAGGGATTAATAGTATGGCTGGCATGATCAACCCTCAGGGACCCCCATATTCCATGGGTGGAACCATGGCCAACAATTCTGCAGGTAAGTGCTAGTCATTCTCACTAGGGATTTCTTCAAGAGTCACATCACAGCTAAACTTACTGGACTTGAGAATTTTTTTCTCTTTTACAGGGATGGCAGCCAGCCCAGAGATGATGGGCCTTGGGGATGTAAAGTTAACTCCAGCCACCAAAATGAACAACAAGGCAGATGGGACACCCAAGACAGAATCCAAATCCAAGGTAGTGATTTTTGTCTTGACTCCTTTCAACTTTGTGTCCTATCTTTTTCAGTGATAGGAAGGAAAAAGAAAAGAGAGTGACAAGATCCCAGCCTTTTATGACACCGGACTAGATAGTCTCTGAAAAAGCTGCTGTTGCCTCCTCTTATCATGAAAGGTCCCAGAATAATAGCTCAGTGAGTTGGGTCTGGGTTGGTCTAAGGGATCCTGGTAAATAACATAATATTCTCACAGCTGTTTGTTATGGGGGAAATGCCAGACACTGCAGCATCAAACTCTCTGTACTGTTTGGCTGGTGCCCTCTGTGAAACCGTGCCTCCTATACTCAAGCATTGATAGATGGGGTGTGCCATGGGCAACTAGTTGCTCTTCTCTTCCTGAACCTTACTCATAGCAGCAGGAATGGTACCCTGTGTTCTGTAAAGAAGGAGATAAGGCAGATGAGGCTTGAGTCCTTGGCTTCCCTTAGGTTGGTCCTGGGTGTACTGTTAGGCTGTGCGGTAGTAAAGGGTCCTACTCAGCATTTGGGTCATTTGTAATATTTCTGTCCTTGGCCATACCTCACTTTCCCTATCTGTATACATAGGGAAAATAAAAATCATAGCTGTTAATTCCTGTGAGTCTTCACCTCTGGCTCCCAGCCCTTTTGACCACGTTCCTGTCTTGTACAGGATAATATCCAAAGCCCTTCAACCAGGTGGGAAACCTTTCCTTTGTTTAGAAGAGGCAAAGAGTTTCTTTTCATTTTAGTCCATCCCATTGCCTCAAGATCATGTTGTGAGTTTTTCGATTTCTCTAAAACATAGTACCTAAGTATGTTCAGGCTCCTGGGTAGTAGTGTGGGAGCAGTAGTGGCTTTGATGTCAGGTGGACAAGGATTTGATACTCAGCCTGCCACTTAAAAGCTGTGAGATCTTAGGCTTTGCCTCCTGGTGCCTGCTTCCTTATCTTTACAAATGGGGATAATTTTATAATACCTAATATATAAAGGCATCTAGCACAGCACCCAGTACATAACATATATTTAGTGTTAGCTTCCTTCCTTTATAGGAAAAAAAAATTTGGTTCTCTTTTGGCCCTTCAACCTTATGAAGGTAGGACAGGTGTTAGTAACCACCCCAGAGTAAGAAGCTTTAACACTGCTCCAGTCAAGAGACTTCTGAGACCCTTAGCACAGGCTTTGAATCTGACCCATTCCTATGAATTTTGACCTGAACCTTCCAGAAATCCAGTTCTTCTACTACAACCAATGAGAAGATCACCAAGTTGTATGAGCTGGGTGGTGAGCCTGAGAGGAAGATGTGGGTGGACCGTTATCTGGCCTTCACTGAGGAGAAGGCCATGGGCATGACAAATCTGCCTGCTGTGGGTAGGAAACCTCTGGACCTCTATCGCCTCTATGTGTCTGTGAAGGAGATTGGTGGATTGACTCAGGTGAGTGGGCGCCTGACACTTGACTGCCCCTGTGGTTTCCACAAACCCCTTTCTAGGTACTCACTGGCTTCATGTGGTACCATGCATCCCACAGGGACATCATCCCCTCTCCCGCTTTCTGAGTCTAATATTGATAGACCGGGGAGCACAGGTTTCCCAGAAGATAAGGCAGGAAGCAGAGACCTCCCTGGTAGTATGAGGTATTAGCAGTAAGTTTACCGTGTATCTATGGTCCCACTGAGGTGTAAAGCTAGGGAAAGTCTGTGGGCATTCTGATTCCATGGGAGGCAATTTGGCATAGTAGCAAAGACAGGATTTGGAGAGATGGACCTGGTTTTGAATCCCTTCTTGGCCACTTATAACATATATGACCTTAAGGTGTGTAACCACTCTGAACCTTAATTTCATTATTTGTAAAATACAAACAGTATGTAACAGTATATAACCCACTAGACTGTCAAAAGTTAGAAATAACTTTGGCTTTCAGCAAGGTTTCTGCCACATAAATCGGCCTGCAAGATGGTACAGAGGCAGCCAGAGTAGAAGTAGATCTTCCCATTCCTGGAAGCTTCCCAGTAGAGATAGGATTTCAGGAACTGCTTAGTAGAAATAGTTTATAATAAAGGAAGAAGTAGTAGGAAATTATGTGTTTAGTTATTCTGTATGGGAAACTTAAATGAAAACCTGAATTGGACACCACCCAGAGCTTGTGCCTACTCTGATACCTTACAATTTTGTAGACTCAGCCCAGGAAGCAAACAGGTGAGGCAGCACAGACAGACAGCAGACTGTGCCTTGCAGACTTCCCTCCTGTGTATGTTCTGTAGTCACCAGACCAGAAGCCTGCTGTTGGATCAGTTTGTGGCTGAGCTCGGGGAGGTGTGGCAGGGAGGGATTTATTCCAAACCTTCTAAATCAGAAGAGGAAAACAGCTGTCACCAGCAGAAAAGAAAGTGGTTGGAATGAAGCCAGCCAACAGTCAGTTATGAATTCCTTCTCCCTTCAGGCTTTATTCCCCTCCCCCACAAAGGAAAACAAAACAAAATAAGACACGTGCATACTGCCACATAACTGGCATGAGAAGCAAAGCCACGGAAGGCTTTTGAGGTGACTCCATGCATATTCCTGCCATTCTCCCTGATACTCAGATCTCATAGTCAAGCCTTCCCTGTCTATAGGGAAAGGGAGCATTGGGTTAGGTTTCGCTCACTTCTGATTGGGTGGGCTTCAGGGTTCACTGAACCTAGGATGAGGTACAGAGAGAATTCTAATGCCTGAGCCTGTCTTCCAGATTGGAAAAGGATGCAAACCTTTAAAATGCCGTGATTGTAACTGAACTTTTATAAAGGCAGTGATAATTCAGGGGCAAAAGAGTGCTATTTATAAGTTAGTTTGTGAAGGCTCCAAGAAAGCAAAGCTGAATCTTGAGCTTATCTAAAGGATTAGTAGGGTTTAGGTGGAAGAGTGGCCAATCCAGTAGACTGGCCTAGATGCCACGGAGATGGGAGAGAGTCTAGATATTTCCCACCAAGGCCATCTCCAACCATGAAGACTTAGCTCAGGTGTTACCCACTCTAAGAAGTATTCCTAGTCACCTCTGCCCCTCTAGGTTGTCCCCCTCTGTGCCTCTTTAAACTCTTCTTTCTAGTATCATAGGTATCATATCAGCAGACATTACAACCTATTGAACTTCCTTTGTGTATAGGGACTTGAAAACCCTTGTTCCCAGGCCTTGGGGGAACAGGCTTACCATATGGTAGATGAATAAGCATAAGAATACATGAAGAAGGAGACCTGTCCAGCTAGAGCAGAAAGACTAATTGTAGGGAGCATCTGGGGAATGGGCTTGGTCAGTGTGCCCTGAAGCTGAGGGAAGGAGGCAGAACTGTAGGTTGGCTGCTCGGGAG
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CCGAGATTTCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAGAAAATCTGGGTGTTAGCTGGACATGGTGGTGCATGCCTCATAGTCTTAGGCACTCAGGAGGCTGAGGAAGGCAGATTGTTTGAGCTCAGGAGATTAAGGCTGCAGTAAGCTATGATCACACCACTGCATTCCAGCCAGGGTGCCAGAGCAATACCCTGTCTCAAGAAAATAAATTAAAGAAAAATAATATCTGGATGTTGCATAGTTCTAGTTTTGGGGACCCATAAATGTTTTCCTTTTAATCCTTACTAGATGATCACACAGCACTATTTGGCTCCAGTTCAAATCTAAAAGCTCAGAGTCTAACCTTTGTCTCTCTCACTTTCCATCTTCTTCCTTAGGCCGCCAGGCTACCCCAATATGAATCAAGGGGGCATGATGGGAACTGGACCTCCTTATGGACAAGGGATTAATAGTATGGCTGGCATGATCAACCCTCAGGGACCCCCATATTCCATGGGTGGAACCATGGCCAACAATTCTGCAGGTAAGTGCTAGTCATTCTCACTAGGGATTTCTTCAAGAGTCACATCACAGCTAAACTTACTGGACTTGAGAATTTTTTTCTCTTTTACAGGGATGGCAGCCAGCCCAGAGATGATGGGCCTTGGGGATGTAAAGTTAACTCCAGCCACCAAAATGAACAACAAGGCAGATGGGACACCCAAGACAGAATCCAAATCCAAGGTAGTGATTTTTGTCTTGACTCCTTTCAACTTTGTGTCCTATCTTTTTCAGTGATAGGAAGGAAAAAGAAAAGAGAGTGACAAGATCCCAGCCTTTTATGACACCGGACTAGATAGTCTCTGAAAAAGCTGCTGTTGCCTCCTCTTATCATGAAAGGTCCCAGAATAATAGCTCAGTGAGTTGGGTCTGGGTTGGTCTAAGGGATCCTGGTAAATAACATAATATTCTCACAGCTGTTTGTTATGGGGGAAATGCCAGACACTGCAGCATCAAACTCTCTGTACTGTTTGGCTGGTGCCCTCTGTGAAACCGTGCCTCCTATACTCAAGCATTGATAGATGGGGTGTGCCATGGGCAACTAGTTGCTCTTCTCTTCCTGAACCTTACTCATAGCAGCAGGAATGGTACCCTGTGTTCTGTAAAGAAGGAGATAAGGCAGATGAGGCTTGAGTCCTTGGCTTCCCTTAGGTTGGTCCTGGGTGTACTGTTAGGCTGTGCGGTAGTAAAGGGTCCTACTCAGCATTTGGGTCATTTGTAATATTTCTGTCCTTGGCCATACCTCACTTTCCCTATCTGTATACATAGGGAAAATAAAAATCATAGCTGTTAATTCCTGTGAGTCTTCACCTCTGGCTCCCAGCCCTTTTGACCACGTTCCTGTCTTGTACAGGATAATATCCAAAGCCCTTCAACCAGGTGGGAAACCTTTCCTTTGTTTAGAAGAGGCAAAGAGTTTCTTTTCATTTTAGTCCATCCCATTGCCTCAAGATCATGTTGTGAGTTTTTCGATTTCTCTAAAACATAGTACCTAAGTATGTTCAGGCTCCTGGGTAGTAGTGTGGGAGCAGTAGTGGCTTTGATGTCAGGTGGACAAGGATTTGATACTCAGCCTGCCACTTAAAAGCTGTGAGATCTTAGGCTTTGCCTCCTGGTGCCTGCTTCCTTATCTTTACAAATGGGGATAATTTTATAATACCTAATATATAAAGGCATCTAGCACAGCACCCAGTACATAACATATATTTAGTGTTAGCTTCCTTCCTTTATAGGAAAAAAAAATTTGGTTCTCTTTTGGCCCTTCAACCTTATGAAGGTAGGACAGGTGTTAGTAACCACCCCAGAGTAAGAAGCTTTAACACTGCTCCAGTCAAGAGACTTCTGAGACCCTTAGCACAGGCTTTGAATCTGACCCATTCCTATGAATTTTGACCTGAACCTTCCAGAAATCCAGTTCTTCTACTACAACCAATGAGAAGATCACCAAGTTGTATGAGCTGGGTGGTGAGCCTGAGTGGAAGATGTGGGTGGACCGTTATCTGGCCTTCACTGAGGAGAAGGCCATGGGCATGACAAATCTGCCTGCTGTGGGTAGGAAACCTCTGGACCTCTATCGCCTCTATGTGTCTGTGAAGGAGATTGGTGGATTGACTCAGGTGAGTGGGCGCCTGACACTTGACTGCCCCTGTGGTTTCCACAAACCCCTTTCTAGGTACTCACTGGCTTCATGTGGTACCATGCATCCCACAGGGACATCATCCCCTCTCCCGCTTTCTGAGTCTAATATTGATAGACCGGGGAGCACAGGTTTCCCAGAAGATAAGGCAGGAAGCAGAGACCTCCCTGGTAGTATGAGGTATTAGCAGTAAGTTTACCGTGTATCTATGGTCCCACTGAGGTGTAAAGCTAGGGAAAGTCTGTGGGCATTCTGATTCCATGGGAGGCAATTTGGCATAGTAGCAAAGACAGGATTTGGAGAGATGGACCTGGTTTTGAATCCCTTCTTGGCCACTTATAACATATATGACCTTAAGGTGTGTAACCACTCTGAACCTTAATTTCATTATTTGTAAAATACAAACAGTATGTAACAGTATATAACCCACTAGACTGTCAAAAGTTAGAAATAACTTTGGCTTTCAGCAAGGTTTCTGCCACATAAATCGGCCTGCAAGATGGTACAGAGGCAGCCAGAGTAGAAGTAGATCTTCCCATTCCTGGAAGCTTCCCAGTAGAGATAGGATTTCAGGAACTGCTTAGTAGAAATAGTTTATAATAAAGGAAGAAGTAGTAGGAAATTATGTGTTTAGTTATTCTGTATGGGAAACTTAAATGAAAACCTGAATTGGACACCACCCAGAGCTTGTGCCTACTCTGATACCTTACAATTTTGTAGACTCAGCCCAGGAAGCAAACAGGTGAGGCAGCACAGACAGACAGCAGACTGTGCCTTGCAGACTTCCCTCCTGTGTATGTTCTGTAGTCACCAGACCAGAAGCCTGCTGTTGGATCAGTTTGTGGCTGAGCTCGGGGAGGTGTGGCAGGGAGGGATTTATTCCAAACCTTCTAAATCAGAAGAGGAAAACAGCTGTCACCAGCAGAAAAGAAAGTGGTTGGAATGAAGCCAGCCAACAGTCAGTTATGAATTCCTTCTCCCTTCAGGCTTTATTCCCCTCCCCCACAAAGGAAAACAAAACAAAATAAGACACGTGCATACTGCCACATAACTGGCATGAGAAGCAAAGCCACGGAAGGCTTTTGAGGTGACTCCATGCATATTCCTGCCATTCTCCCTGATACTCAGATCTCATAGTCAAGCCTTCCCTGTCTATAGGGAAAGGGAGCATTGGGTTAGGTTTCGCTCACTTCTGATTGGGTGGGCTTCAGGGTTCACTGAACCTAGGATGAGGTACAGAGAGAATTCTAATGCCTGAGCCTGTCTTCCAGATTGGAAAAGGATGCAAACCTTTAAAATGCCGTGATTGTAACTGAACTTTTATAAAGGCAGTGATAATTCAGGGGCAAAAGAGTGCTATTTATAAGTTAGTTTGTGAAGGCTCCAAGAAAGCAAAGCTGAATCTTGAGCTTATCTAAAGGATTAGTAGGGTTTAGGTGGAAGAGTGGCCAATCCAGTAGACTGGCCTAGATGCCACGGAGATGGGAGAGAGTCTAGATATTTCCCACCAAGGCCATCTCCAACCATGAAGACTTAGCTCAGGTGTTACCCACTCTAAGAAGTATTCCTAGTCACCTCTGCCCCTCTAGGTTGTCCCCCTCTGTGCCTCTTTAAACTCTTCTTTCTAGTATCATAGGTATCATATCAGCAGACATTACAACCTATTGAACTTCCTTTGTGTATAGGGACTTGAAAACCCTTGTTCCCAGGCCTTGGGGGAACAGGCTTACCATATGGTAGATGAATAAGCATAAGAATACATGAAGAAGGAGACCTGTCCAGCTAGAGCAGAAAGACTAATTGTAGGGAGCATCTGGGGAATGGGCTTGGTCAGTGTGCCCTGAAGCTGAGGGAAGGAGGCAGAACTGTAGGTTGGCTGCTCGGGAG
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Task1_train_623
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The gene ARID1A (AT-rich interaction domain 1A) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Coffin-Siris syndrome
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AGATTTCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAGAAAATCTGGGTGTTAGCTGGACATGGTGGTGCATGCCTCATAGTCTTAGGCACTCAGGAGGCTGAGGAAGGCAGATTGTTTGAGCTCAGGAGATTAAGGCTGCAGTAAGCTATGATCACACCACTGCATTCCAGCCAGGGTGCCAGAGCAATACCCTGTCTCAAGAAAATAAATTAAAGAAAAATAATATCTGGATGTTGCATAGTTCTAGTTTTGGGGACCCATAAATGTTTTCCTTTTAATCCTTACTAGATGATCACACAGCACTATTTGGCTCCAGTTCAAATCTAAAAGCTCAGAGTCTAACCTTTGTCTCTCTCACTTTCCATCTTCTTCCTTAGGCCGCCAGGCTACCCCAATATGAATCAAGGGGGCATGATGGGAACTGGACCTCCTTATGGACAAGGGATTAATAGTATGGCTGGCATGATCAACCCTCAGGGACCCCCATATTCCATGGGTGGAACCATGGCCAACAATTCTGCAGGTAAGTGCTAGTCATTCTCACTAGGGATTTCTTCAAGAGTCACATCACAGCTAAACTTACTGGACTTGAGAATTTTTTTCTCTTTTACAGGGATGGCAGCCAGCCCAGAGATGATGGGCCTTGGGGATGTAAAGTTAACTCCAGCCACCAAAATGAACAACAAGGCAGATGGGACACCCAAGACAGAATCCAAATCCAAGGTAGTGATTTTTGTCTTGACTCCTTTCAACTTTGTGTCCTATCTTTTTCAGTGATAGGAAGGAAAAAGAAAAGAGAGTGACAAGATCCCAGCCTTTTATGACACCGGACTAGATAGTCTCTGAAAAAGCTGCTGTTGCCTCCTCTTATCATGAAAGGTCCCAGAATAATAGCTCAGTGAGTTGGGTCTGGGTTGGTCTAAGGGATCCTGGTAAATAACATAATATTCTCACAGCTGTTTGTTATGGGGGAAATGCCAGACACTGCAGCATCAAACTCTCTGTACTGTTTGGCTGGTGCCCTCTGTGAAACCGTGCCTCCTATACTCAAGCATTGATAGATGGGGTGTGCCATGGGCAACTAGTTGCTCTTCTCTTCCTGAACCTTACTCATAGCAGCAGGAATGGTACCCTGTGTTCTGTAAAGAAGGAGATAAGGCAGATGAGGCTTGAGTCCTTGGCTTCCCTTAGGTTGGTCCTGGGTGTACTGTTAGGCTGTGCGGTAGTAAAGGGTCCTACTCAGCATTTGGGTCATTTGTAATATTTCTGTCCTTGGCCATACCTCACTTTCCCTATCTGTATACATAGGGAAAATAAAAATCATAGCTGTTAATTCCTGTGAGTCTTCACCTCTGGCTCCCAGCCCTTTTGACCACGTTCCTGTCTTGTACAGGATAATATCCAAAGCCCTTCAACCAGGTGGGAAACCTTTCCTTTGTTTAGAAGAGGCAAAGAGTTTCTTTTCATTTTAGTCCATCCCATTGCCTCAAGATCATGTTGTGAGTTTTTCGATTTCTCTAAAACATAGTACCTAAGTATGTTCAGGCTCCTGGGTAGTAGTGTGGGAGCAGTAGTGGCTTTGATGTCAGGTGGACAAGGATTTGATACTCAGCCTGCCACTTAAAAGCTGTGAGATCTTAGGCTTTGCCTCCTGGTGCCTGCTTCCTTATCTTTACAAATGGGGATAATTTTATAATACCTAATATATAAAGGCATCTAGCACAGCACCCAGTACATAACATATATTTAGTGTTAGCTTCCTTCCTTTATAGGAAAAAAAAATTTGGTTCTCTTTTGGCCCTTCAACCTTATGAAGGTAGGACAGGTGTTAGTAACCACCCCAGAGTAAGAAGCTTTAACACTGCTCCAGTCAAGAGACTTCTGAGACCCTTAGCACAGGCTTTGAATCTGACCCATTCCTATGAATTTTGACCTGAACCTTCCAGAAATCCAGTTCTTCTACTACAACCAATGAGAAGATCACCAAGTTGTATGAGCTGGGTGGTGAGCCTGAGAGGAAGATGTGGGTGGACCGTTATCTGGCCTTCACTGAGGAGAAGGCCATGGGCATGACAAATCTGCCTGCTGTGGGTAGGAAACCTCTGGACCTCTATCGCCTCTATGTGTCTGTGAAGGAGATTGGTGGATTGACTCAGGTGAGTGGGCGCCTGACACTTGACTGCCCCTGTGGTTTCCACAAACCCCTTTCTAGGTACTCACTGGCTTCATGTGGTACCATGCATCCCACAGGGACATCATCCCCTCTCCCGCTTTCTGAGTCTAATATTGATAGACCGGGGAGCACAGGTTTCCCAGAAGATAAGGCAGGAAGCAGAGACCTCCCTGGTAGTATGAGGTATTAGCAGTAAGTTTACCGTGTATCTATGGTCCCACTGAGGTGTAAAGCTAGGGAAAGTCTGTGGGCATTCTGATTCCATGGGAGGCAATTTGGCATAGTAGCAAAGACAGGATTTGGAGAGATGGACCTGGTTTTGAATCCCTTCTTGGCCACTTATAACATATATGACCTTAAGGTGTGTAACCACTCTGAACCTTAATTTCATTATTTGTAAAATACAAACAGTATGTAACAGTATATAACCCACTAGACTGTCAAAAGTTAGAAATAACTTTGGCTTTCAGCAAGGTTTCTGCCACATAAATCGGCCTGCAAGATGGTACAGAGGCAGCCAGAGTAGAAGTAGATCTTCCCATTCCTGGAAGCTTCCCAGTAGAGATAGGATTTCAGGAACTGCTTAGTAGAAATAGTTTATAATAAAGGAAGAAGTAGTAGGAAATTATGTGTTTAGTTATTCTGTATGGGAAACTTAAATGAAAACCTGAATTGGACACCACCCAGAGCTTGTGCCTACTCTGATACCTTACAATTTTGTAGACTCAGCCCAGGAAGCAAACAGGTGAGGCAGCACAGACAGACAGCAGACTGTGCCTTGCAGACTTCCCTCCTGTGTATGTTCTGTAGTCACCAGACCAGAAGCCTGCTGTTGGATCAGTTTGTGGCTGAGCTCGGGGAGGTGTGGCAGGGAGGGATTTATTCCAAACCTTCTAAATCAGAAGAGGAAAACAGCTGTCACCAGCAGAAAAGAAAGTGGTTGGAATGAAGCCAGCCAACAGTCAGTTATGAATTCCTTCTCCCTTCAGGCTTTATTCCCCTCCCCCACAAAGGAAAACAAAACAAAATAAGACACGTGCATACTGCCACATAACTGGCATGAGAAGCAAAGCCACGGAAGGCTTTTGAGGTGACTCCATGCATATTCCTGCCATTCTCCCTGATACTCAGATCTCATAGTCAAGCCTTCCCTGTCTATAGGGAAAGGGAGCATTGGGTTAGGTTTCGCTCACTTCTGATTGGGTGGGCTTCAGGGTTCACTGAACCTAGGATGAGGTACAGAGAGAATTCTAATGCCTGAGCCTGTCTTCCAGATTGGAAAAGGATGCAAACCTTTAAAATGCCGTGATTGTAACTGAACTTTTATAAAGGCAGTGATAATTCAGGGGCAAAAGAGTGCTATTTATAAGTTAGTTTGTGAAGGCTCCAAGAAAGCAAAGCTGAATCTTGAGCTTATCTAAAGGATTAGTAGGGTTTAGGTGGAAGAGTGGCCAATCCAGTAGACTGGCCTAGATGCCACGGAGATGGGAGAGAGTCTAGATATTTCCCACCAAGGCCATCTCCAACCATGAAGACTTAGCTCAGGTGTTACCCACTCTAAGAAGTATTCCTAGTCACCTCTGCCCCTCTAGGTTGTCCCCCTCTGTGCCTCTTTAAACTCTTCTTTCTAGTATCATAGGTATCATATCAGCAGACATTACAACCTATTGAACTTCCTTTGTGTATAGGGACTTGAAAACCCTTGTTCCCAGGCCTTGGGGGAACAGGCTTACCATATGGTAGATGAATAAGCATAAGAATACATGAAGAAGGAGACCTGTCCAGCTAGAGCAGAAAGACTAATTGTAGGGAGCATCTGGGGAATGGGCTTGGTCAGTGTGCCCTGAAGCTGAGGGAAGGAGGCAGAACTGTAGGTTGGCTGCTCGGGAGGTA
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AGATTTCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAGAAAATCTGGGTGTTAGCTGGACATGGTGGTGCATGCCTCATAGTCTTAGGCACTCAGGAGGCTGAGGAAGGCAGATTGTTTGAGCTCAGGAGATTAAGGCTGCAGTAAGCTATGATCACACCACTGCATTCCAGCCAGGGTGCCAGAGCAATACCCTGTCTCAAGAAAATAAATTAAAGAAAAATAATATCTGGATGTTGCATAGTTCTAGTTTTGGGGACCCATAAATGTTTTCCTTTTAATCCTTACTAGATGATCACACAGCACTATTTGGCTCCAGTTCAAATCTAAAAGCTCAGAGTCTAACCTTTGTCTCTCTCACTTTCCATCTTCTTCCTTAGGCCGCCAGGCTACCCCAATATGAATCAAGGGGGCATGATGGGAACTGGACCTCCTTATGGACAAGGGATTAATAGTATGGCTGGCATGATCAACCCTCAGGGACCCCCATATTCCATGGGTGGAACCATGGCCAACAATTCTGCAGGTAAGTGCTAGTCATTCTCACTAGGGATTTCTTCAAGAGTCACATCACAGCTAAACTTACTGGACTTGAGAATTTTTTTCTCTTTTACAGGGATGGCAGCCAGCCCAGAGATGATGGGCCTTGGGGATGTAAAGTTAACTCCAGCCACCAAAATGAACAACAAGGCAGATGGGACACCCAAGACAGAATCCAAATCCAAGGTAGTGATTTTTGTCTTGACTCCTTTCAACTTTGTGTCCTATCTTTTTCAGTGATAGGAAGGAAAAAGAAAAGAGAGTGACAAGATCCCAGCCTTTTATGACACCGGACTAGATAGTCTCTGAAAAAGCTGCTGTTGCCTCCTCTTATCATGAAAGGTCCCAGAATAATAGCTCAGTGAGTTGGGTCTGGGTTGGTCTAAGGGATCCTGGTAAATAACATAATATTCTCACAGCTGTTTGTTATGGGGGAAATGCCAGACACTGCAGCATCAAACTCTCTGTACTGTTTGGCTGGTGCCCTCTGTGAAACCGTGCCTCCTATACTCAAGCATTGATAGATGGGGTGTGCCATGGGCAACTAGTTGCTCTTCTCTTCCTGAACCTTACTCATAGCAGCAGGAATGGTACCCTGTGTTCTGTAAAGAAGGAGATAAGGCAGATGAGGCTTGAGTCCTTGGCTTCCCTTAGGTTGGTCCTGGGTGTACTGTTAGGCTGTGCGGTAGTAAAGGGTCCTACTCAGCATTTGGGTCATTTGTAATATTTCTGTCCTTGGCCATACCTCACTTTCCCTATCTGTATACATAGGGAAAATAAAAATCATAGCTGTTAATTCCTGTGAGTCTTCACCTCTGGCTCCCAGCCCTTTTGACCACGTTCCTGTCTTGTACAGGATAATATCCAAAGCCCTTCAACCAGGTGGGAAACCTTTCCTTTGTTTAGAAGAGGCAAAGAGTTTCTTTTCATTTTAGTCCATCCCATTGCCTCAAGATCATGTTGTGAGTTTTTCGATTTCTCTAAAACATAGTACCTAAGTATGTTCAGGCTCCTGGGTAGTAGTGTGGGAGCAGTAGTGGCTTTGATGTCAGGTGGACAAGGATTTGATACTCAGCCTGCCACTTAAAAGCTGTGAGATCTTAGGCTTTGCCTCCTGGTGCCTGCTTCCTTATCTTTACAAATGGGGATAATTTTATAATACCTAATATATAAAGGCATCTAGCACAGCACCCAGTACATAACATATATTTAGTGTTAGCTTCCTTCCTTTATAGGAAAAAAAAATTTGGTTCTCTTTTGGCCCTTCAACCTTATGAAGGTAGGACAGGTGTTAGTAACCACCCCAGAGTAAGAAGCTTTAACACTGCTCCAGTCAAGAGACTTCTGAGACCCTTAGCACAGGCTTTGAATCTGACCCATTCCTATGAATTTTGACCTGAACCTTCCAGAAATCCAGTTCTTCTACTACAACCAATGAGAAGATCACCAAGTTGTATGAGCTGGGTGGTGAGCCTGAGAGGGAGATGTGGGTGGACCGTTATCTGGCCTTCACTGAGGAGAAGGCCATGGGCATGACAAATCTGCCTGCTGTGGGTAGGAAACCTCTGGACCTCTATCGCCTCTATGTGTCTGTGAAGGAGATTGGTGGATTGACTCAGGTGAGTGGGCGCCTGACACTTGACTGCCCCTGTGGTTTCCACAAACCCCTTTCTAGGTACTCACTGGCTTCATGTGGTACCATGCATCCCACAGGGACATCATCCCCTCTCCCGCTTTCTGAGTCTAATATTGATAGACCGGGGAGCACAGGTTTCCCAGAAGATAAGGCAGGAAGCAGAGACCTCCCTGGTAGTATGAGGTATTAGCAGTAAGTTTACCGTGTATCTATGGTCCCACTGAGGTGTAAAGCTAGGGAAAGTCTGTGGGCATTCTGATTCCATGGGAGGCAATTTGGCATAGTAGCAAAGACAGGATTTGGAGAGATGGACCTGGTTTTGAATCCCTTCTTGGCCACTTATAACATATATGACCTTAAGGTGTGTAACCACTCTGAACCTTAATTTCATTATTTGTAAAATACAAACAGTATGTAACAGTATATAACCCACTAGACTGTCAAAAGTTAGAAATAACTTTGGCTTTCAGCAAGGTTTCTGCCACATAAATCGGCCTGCAAGATGGTACAGAGGCAGCCAGAGTAGAAGTAGATCTTCCCATTCCTGGAAGCTTCCCAGTAGAGATAGGATTTCAGGAACTGCTTAGTAGAAATAGTTTATAATAAAGGAAGAAGTAGTAGGAAATTATGTGTTTAGTTATTCTGTATGGGAAACTTAAATGAAAACCTGAATTGGACACCACCCAGAGCTTGTGCCTACTCTGATACCTTACAATTTTGTAGACTCAGCCCAGGAAGCAAACAGGTGAGGCAGCACAGACAGACAGCAGACTGTGCCTTGCAGACTTCCCTCCTGTGTATGTTCTGTAGTCACCAGACCAGAAGCCTGCTGTTGGATCAGTTTGTGGCTGAGCTCGGGGAGGTGTGGCAGGGAGGGATTTATTCCAAACCTTCTAAATCAGAAGAGGAAAACAGCTGTCACCAGCAGAAAAGAAAGTGGTTGGAATGAAGCCAGCCAACAGTCAGTTATGAATTCCTTCTCCCTTCAGGCTTTATTCCCCTCCCCCACAAAGGAAAACAAAACAAAATAAGACACGTGCATACTGCCACATAACTGGCATGAGAAGCAAAGCCACGGAAGGCTTTTGAGGTGACTCCATGCATATTCCTGCCATTCTCCCTGATACTCAGATCTCATAGTCAAGCCTTCCCTGTCTATAGGGAAAGGGAGCATTGGGTTAGGTTTCGCTCACTTCTGATTGGGTGGGCTTCAGGGTTCACTGAACCTAGGATGAGGTACAGAGAGAATTCTAATGCCTGAGCCTGTCTTCCAGATTGGAAAAGGATGCAAACCTTTAAAATGCCGTGATTGTAACTGAACTTTTATAAAGGCAGTGATAATTCAGGGGCAAAAGAGTGCTATTTATAAGTTAGTTTGTGAAGGCTCCAAGAAAGCAAAGCTGAATCTTGAGCTTATCTAAAGGATTAGTAGGGTTTAGGTGGAAGAGTGGCCAATCCAGTAGACTGGCCTAGATGCCACGGAGATGGGAGAGAGTCTAGATATTTCCCACCAAGGCCATCTCCAACCATGAAGACTTAGCTCAGGTGTTACCCACTCTAAGAAGTATTCCTAGTCACCTCTGCCCCTCTAGGTTGTCCCCCTCTGTGCCTCTTTAAACTCTTCTTTCTAGTATCATAGGTATCATATCAGCAGACATTACAACCTATTGAACTTCCTTTGTGTATAGGGACTTGAAAACCCTTGTTCCCAGGCCTTGGGGGAACAGGCTTACCATATGGTAGATGAATAAGCATAAGAATACATGAAGAAGGAGACCTGTCCAGCTAGAGCAGAAAGACTAATTGTAGGGAGCATCTGGGGAATGGGCTTGGTCAGTGTGCCCTGAAGCTGAGGGAAGGAGGCAGAACTGTAGGTTGGCTGCTCGGGAGGTA
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Task1_train_624
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A variant has been detected on Chromosome 1 in ARID1A (AT-rich interaction domain 1A). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; not provided
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AGGCTGAGGAAGGCAGATTGTTTGAGCTCAGGAGATTAAGGCTGCAGTAAGCTATGATCACACCACTGCATTCCAGCCAGGGTGCCAGAGCAATACCCTGTCTCAAGAAAATAAATTAAAGAAAAATAATATCTGGATGTTGCATAGTTCTAGTTTTGGGGACCCATAAATGTTTTCCTTTTAATCCTTACTAGATGATCACACAGCACTATTTGGCTCCAGTTCAAATCTAAAAGCTCAGAGTCTAACCTTTGTCTCTCTCACTTTCCATCTTCTTCCTTAGGCCGCCAGGCTACCCCAATATGAATCAAGGGGGCATGATGGGAACTGGACCTCCTTATGGACAAGGGATTAATAGTATGGCTGGCATGATCAACCCTCAGGGACCCCCATATTCCATGGGTGGAACCATGGCCAACAATTCTGCAGGTAAGTGCTAGTCATTCTCACTAGGGATTTCTTCAAGAGTCACATCACAGCTAAACTTACTGGACTTGAGAATTTTTTTCTCTTTTACAGGGATGGCAGCCAGCCCAGAGATGATGGGCCTTGGGGATGTAAAGTTAACTCCAGCCACCAAAATGAACAACAAGGCAGATGGGACACCCAAGACAGAATCCAAATCCAAGGTAGTGATTTTTGTCTTGACTCCTTTCAACTTTGTGTCCTATCTTTTTCAGTGATAGGAAGGAAAAAGAAAAGAGAGTGACAAGATCCCAGCCTTTTATGACACCGGACTAGATAGTCTCTGAAAAAGCTGCTGTTGCCTCCTCTTATCATGAAAGGTCCCAGAATAATAGCTCAGTGAGTTGGGTCTGGGTTGGTCTAAGGGATCCTGGTAAATAACATAATATTCTCACAGCTGTTTGTTATGGGGGAAATGCCAGACACTGCAGCATCAAACTCTCTGTACTGTTTGGCTGGTGCCCTCTGTGAAACCGTGCCTCCTATACTCAAGCATTGATAGATGGGGTGTGCCATGGGCAACTAGTTGCTCTTCTCTTCCTGAACCTTACTCATAGCAGCAGGAATGGTACCCTGTGTTCTGTAAAGAAGGAGATAAGGCAGATGAGGCTTGAGTCCTTGGCTTCCCTTAGGTTGGTCCTGGGTGTACTGTTAGGCTGTGCGGTAGTAAAGGGTCCTACTCAGCATTTGGGTCATTTGTAATATTTCTGTCCTTGGCCATACCTCACTTTCCCTATCTGTATACATAGGGAAAATAAAAATCATAGCTGTTAATTCCTGTGAGTCTTCACCTCTGGCTCCCAGCCCTTTTGACCACGTTCCTGTCTTGTACAGGATAATATCCAAAGCCCTTCAACCAGGTGGGAAACCTTTCCTTTGTTTAGAAGAGGCAAAGAGTTTCTTTTCATTTTAGTCCATCCCATTGCCTCAAGATCATGTTGTGAGTTTTTCGATTTCTCTAAAACATAGTACCTAAGTATGTTCAGGCTCCTGGGTAGTAGTGTGGGAGCAGTAGTGGCTTTGATGTCAGGTGGACAAGGATTTGATACTCAGCCTGCCACTTAAAAGCTGTGAGATCTTAGGCTTTGCCTCCTGGTGCCTGCTTCCTTATCTTTACAAATGGGGATAATTTTATAATACCTAATATATAAAGGCATCTAGCACAGCACCCAGTACATAACATATATTTAGTGTTAGCTTCCTTCCTTTATAGGAAAAAAAAATTTGGTTCTCTTTTGGCCCTTCAACCTTATGAAGGTAGGACAGGTGTTAGTAACCACCCCAGAGTAAGAAGCTTTAACACTGCTCCAGTCAAGAGACTTCTGAGACCCTTAGCACAGGCTTTGAATCTGACCCATTCCTATGAATTTTGACCTGAACCTTCCAGAAATCCAGTTCTTCTACTACAACCAATGAGAAGATCACCAAGTTGTATGAGCTGGGTGGTGAGCCTGAGAGGAAGATGTGGGTGGACCGTTATCTGGCCTTCACTGAGGAGAAGGCCATGGGCATGACAAATCTGCCTGCTGTGGGTAGGAAACCTCTGGACCTCTATCGCCTCTATGTGTCTGTGAAGGAGATTGGTGGATTGACTCAGGTGAGTGGGCGCCTGACACTTGACTGCCCCTGTGGTTTCCACAAACCCCTTTCTAGGTACTCACTGGCTTCATGTGGTACCATGCATCCCACAGGGACATCATCCCCTCTCCCGCTTTCTGAGTCTAATATTGATAGACCGGGGAGCACAGGTTTCCCAGAAGATAAGGCAGGAAGCAGAGACCTCCCTGGTAGTATGAGGTATTAGCAGTAAGTTTACCGTGTATCTATGGTCCCACTGAGGTGTAAAGCTAGGGAAAGTCTGTGGGCATTCTGATTCCATGGGAGGCAATTTGGCATAGTAGCAAAGACAGGATTTGGAGAGATGGACCTGGTTTTGAATCCCTTCTTGGCCACTTATAACATATATGACCTTAAGGTGTGTAACCACTCTGAACCTTAATTTCATTATTTGTAAAATACAAACAGTATGTAACAGTATATAACCCACTAGACTGTCAAAAGTTAGAAATAACTTTGGCTTTCAGCAAGGTTTCTGCCACATAAATCGGCCTGCAAGATGGTACAGAGGCAGCCAGAGTAGAAGTAGATCTTCCCATTCCTGGAAGCTTCCCAGTAGAGATAGGATTTCAGGAACTGCTTAGTAGAAATAGTTTATAATAAAGGAAGAAGTAGTAGGAAATTATGTGTTTAGTTATTCTGTATGGGAAACTTAAATGAAAACCTGAATTGGACACCACCCAGAGCTTGTGCCTACTCTGATACCTTACAATTTTGTAGACTCAGCCCAGGAAGCAAACAGGTGAGGCAGCACAGACAGACAGCAGACTGTGCCTTGCAGACTTCCCTCCTGTGTATGTTCTGTAGTCACCAGACCAGAAGCCTGCTGTTGGATCAGTTTGTGGCTGAGCTCGGGGAGGTGTGGCAGGGAGGGATTTATTCCAAACCTTCTAAATCAGAAGAGGAAAACAGCTGTCACCAGCAGAAAAGAAAGTGGTTGGAATGAAGCCAGCCAACAGTCAGTTATGAATTCCTTCTCCCTTCAGGCTTTATTCCCCTCCCCCACAAAGGAAAACAAAACAAAATAAGACACGTGCATACTGCCACATAACTGGCATGAGAAGCAAAGCCACGGAAGGCTTTTGAGGTGACTCCATGCATATTCCTGCCATTCTCCCTGATACTCAGATCTCATAGTCAAGCCTTCCCTGTCTATAGGGAAAGGGAGCATTGGGTTAGGTTTCGCTCACTTCTGATTGGGTGGGCTTCAGGGTTCACTGAACCTAGGATGAGGTACAGAGAGAATTCTAATGCCTGAGCCTGTCTTCCAGATTGGAAAAGGATGCAAACCTTTAAAATGCCGTGATTGTAACTGAACTTTTATAAAGGCAGTGATAATTCAGGGGCAAAAGAGTGCTATTTATAAGTTAGTTTGTGAAGGCTCCAAGAAAGCAAAGCTGAATCTTGAGCTTATCTAAAGGATTAGTAGGGTTTAGGTGGAAGAGTGGCCAATCCAGTAGACTGGCCTAGATGCCACGGAGATGGGAGAGAGTCTAGATATTTCCCACCAAGGCCATCTCCAACCATGAAGACTTAGCTCAGGTGTTACCCACTCTAAGAAGTATTCCTAGTCACCTCTGCCCCTCTAGGTTGTCCCCCTCTGTGCCTCTTTAAACTCTTCTTTCTAGTATCATAGGTATCATATCAGCAGACATTACAACCTATTGAACTTCCTTTGTGTATAGGGACTTGAAAACCCTTGTTCCCAGGCCTTGGGGGAACAGGCTTACCATATGGTAGATGAATAAGCATAAGAATACATGAAGAAGGAGACCTGTCCAGCTAGAGCAGAAAGACTAATTGTAGGGAGCATCTGGGGAATGGGCTTGGTCAGTGTGCCCTGAAGCTGAGGGAAGGAGGCAGAACTGTAGGTTGGCTGCTCGGGAGGTACAAAAGTCATAATAAGGCCCCGGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGG
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AGGCTGAGGAAGGCAGATTGTTTGAGCTCAGGAGATTAAGGCTGCAGTAAGCTATGATCACACCACTGCATTCCAGCCAGGGTGCCAGAGCAATACCCTGTCTCAAGAAAATAAATTAAAGAAAAATAATATCTGGATGTTGCATAGTTCTAGTTTTGGGGACCCATAAATGTTTTCCTTTTAATCCTTACTAGATGATCACACAGCACTATTTGGCTCCAGTTCAAATCTAAAAGCTCAGAGTCTAACCTTTGTCTCTCTCACTTTCCATCTTCTTCCTTAGGCCGCCAGGCTACCCCAATATGAATCAAGGGGGCATGATGGGAACTGGACCTCCTTATGGACAAGGGATTAATAGTATGGCTGGCATGATCAACCCTCAGGGACCCCCATATTCCATGGGTGGAACCATGGCCAACAATTCTGCAGGTAAGTGCTAGTCATTCTCACTAGGGATTTCTTCAAGAGTCACATCACAGCTAAACTTACTGGACTTGAGAATTTTTTTCTCTTTTACAGGGATGGCAGCCAGCCCAGAGATGATGGGCCTTGGGGATGTAAAGTTAACTCCAGCCACCAAAATGAACAACAAGGCAGATGGGACACCCAAGACAGAATCCAAATCCAAGGTAGTGATTTTTGTCTTGACTCCTTTCAACTTTGTGTCCTATCTTTTTCAGTGATAGGAAGGAAAAAGAAAAGAGAGTGACAAGATCCCAGCCTTTTATGACACCGGACTAGATAGTCTCTGAAAAAGCTGCTGTTGCCTCCTCTTATCATGAAAGGTCCCAGAATAATAGCTCAGTGAGTTGGGTCTGGGTTGGTCTAAGGGATCCTGGTAAATAACATAATATTCTCACAGCTGTTTGTTATGGGGGAAATGCCAGACACTGCAGCATCAAACTCTCTGTACTGTTTGGCTGGTGCCCTCTGTGAAACCGTGCCTCCTATACTCAAGCATTGATAGATGGGGTGTGCCATGGGCAACTAGTTGCTCTTCTCTTCCTGAACCTTACTCATAGCAGCAGGAATGGTACCCTGTGTTCTGTAAAGAAGGAGATAAGGCAGATGAGGCTTGAGTCCTTGGCTTCCCTTAGGTTGGTCCTGGGTGTACTGTTAGGCTGTGCGGTAGTAAAGGGTCCTACTCAGCATTTGGGTCATTTGTAATATTTCTGTCCTTGGCCATACCTCACTTTCCCTATCTGTATACATAGGGAAAATAAAAATCATAGCTGTTAATTCCTGTGAGTCTTCACCTCTGGCTCCCAGCCCTTTTGACCACGTTCCTGTCTTGTACAGGATAATATCCAAAGCCCTTCAACCAGGTGGGAAACCTTTCCTTTGTTTAGAAGAGGCAAAGAGTTTCTTTTCATTTTAGTCCATCCCATTGCCTCAAGATCATGTTGTGAGTTTTTCGATTTCTCTAAAACATAGTACCTAAGTATGTTCAGGCTCCTGGGTAGTAGTGTGGGAGCAGTAGTGGCTTTGATGTCAGGTGGACAAGGATTTGATACTCAGCCTGCCACTTAAAAGCTGTGAGATCTTAGGCTTTGCCTCCTGGTGCCTGCTTCCTTATCTTTACAAATGGGGATAATTTTATAATACCTAATATATAAAGGCATCTAGCACAGCACCCAGTACATAACATATATTTAGTGTTAGCTTCCTTCCTTTATAGGAAAAAAAAATTTGGTTCTCTTTTGGCCCTTCAACCTTATGAAGGTAGGACAGGTGTTAGTAACCACCCCAGAGTAAGAAGCTTTAACACTGCTCCAGTCAAGAGACTTCTGAGACCCTTAGCACAGGCTTTGAATCTGACCCATTCCTATGAATTTTGACCTGAACCTTCCAGAAATCCAGTTCTTCTACTACAACCAATGAGAAGATCACCAAGTTGTATGAGCTGGGTGGTGAGCCTGAGAGGAAGATGTGGGTGGACCGTTATCTGGCCTTCACTGAGGAGAAGGCCATGGGCATGACAAATCTGCCTGCTGTGGGTAGGAAACCTCTGGACCTCTATCGCCTCTATGTGTCTGTGAAGGAGATTGTTGGATTGACTCAGGTGAGTGGGCGCCTGACACTTGACTGCCCCTGTGGTTTCCACAAACCCCTTTCTAGGTACTCACTGGCTTCATGTGGTACCATGCATCCCACAGGGACATCATCCCCTCTCCCGCTTTCTGAGTCTAATATTGATAGACCGGGGAGCACAGGTTTCCCAGAAGATAAGGCAGGAAGCAGAGACCTCCCTGGTAGTATGAGGTATTAGCAGTAAGTTTACCGTGTATCTATGGTCCCACTGAGGTGTAAAGCTAGGGAAAGTCTGTGGGCATTCTGATTCCATGGGAGGCAATTTGGCATAGTAGCAAAGACAGGATTTGGAGAGATGGACCTGGTTTTGAATCCCTTCTTGGCCACTTATAACATATATGACCTTAAGGTGTGTAACCACTCTGAACCTTAATTTCATTATTTGTAAAATACAAACAGTATGTAACAGTATATAACCCACTAGACTGTCAAAAGTTAGAAATAACTTTGGCTTTCAGCAAGGTTTCTGCCACATAAATCGGCCTGCAAGATGGTACAGAGGCAGCCAGAGTAGAAGTAGATCTTCCCATTCCTGGAAGCTTCCCAGTAGAGATAGGATTTCAGGAACTGCTTAGTAGAAATAGTTTATAATAAAGGAAGAAGTAGTAGGAAATTATGTGTTTAGTTATTCTGTATGGGAAACTTAAATGAAAACCTGAATTGGACACCACCCAGAGCTTGTGCCTACTCTGATACCTTACAATTTTGTAGACTCAGCCCAGGAAGCAAACAGGTGAGGCAGCACAGACAGACAGCAGACTGTGCCTTGCAGACTTCCCTCCTGTGTATGTTCTGTAGTCACCAGACCAGAAGCCTGCTGTTGGATCAGTTTGTGGCTGAGCTCGGGGAGGTGTGGCAGGGAGGGATTTATTCCAAACCTTCTAAATCAGAAGAGGAAAACAGCTGTCACCAGCAGAAAAGAAAGTGGTTGGAATGAAGCCAGCCAACAGTCAGTTATGAATTCCTTCTCCCTTCAGGCTTTATTCCCCTCCCCCACAAAGGAAAACAAAACAAAATAAGACACGTGCATACTGCCACATAACTGGCATGAGAAGCAAAGCCACGGAAGGCTTTTGAGGTGACTCCATGCATATTCCTGCCATTCTCCCTGATACTCAGATCTCATAGTCAAGCCTTCCCTGTCTATAGGGAAAGGGAGCATTGGGTTAGGTTTCGCTCACTTCTGATTGGGTGGGCTTCAGGGTTCACTGAACCTAGGATGAGGTACAGAGAGAATTCTAATGCCTGAGCCTGTCTTCCAGATTGGAAAAGGATGCAAACCTTTAAAATGCCGTGATTGTAACTGAACTTTTATAAAGGCAGTGATAATTCAGGGGCAAAAGAGTGCTATTTATAAGTTAGTTTGTGAAGGCTCCAAGAAAGCAAAGCTGAATCTTGAGCTTATCTAAAGGATTAGTAGGGTTTAGGTGGAAGAGTGGCCAATCCAGTAGACTGGCCTAGATGCCACGGAGATGGGAGAGAGTCTAGATATTTCCCACCAAGGCCATCTCCAACCATGAAGACTTAGCTCAGGTGTTACCCACTCTAAGAAGTATTCCTAGTCACCTCTGCCCCTCTAGGTTGTCCCCCTCTGTGCCTCTTTAAACTCTTCTTTCTAGTATCATAGGTATCATATCAGCAGACATTACAACCTATTGAACTTCCTTTGTGTATAGGGACTTGAAAACCCTTGTTCCCAGGCCTTGGGGGAACAGGCTTACCATATGGTAGATGAATAAGCATAAGAATACATGAAGAAGGAGACCTGTCCAGCTAGAGCAGAAAGACTAATTGTAGGGAGCATCTGGGGAATGGGCTTGGTCAGTGTGCCCTGAAGCTGAGGGAAGGAGGCAGAACTGTAGGTTGGCTGCTCGGGAGGTACAAAAGTCATAATAAGGCCCCGGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGG
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Task1_train_625
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Here’s a variant in PIGV (phosphatidylinositol glycan anchor biosynthesis class V) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Hyperphosphatasia with intellectual disability syndrome 1
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ATCCTTGACGGTTTTGGCTCCTGGTTCACTGTCACTCTTCCCAGCACTACTTCTATTGATTTCCTGGTGATTTCATTATTAATGAAGATGATGTGTGCAGTGTCCTGAAAAGAGTCTATCACTTGAGTGTGAGTTCTGGGGAAAGGGTGTTAGAGATTTGAGGAAAGAGAAAAACATGTAACATGTAACAAATTGTTTTCCTAAATGACAACTCAGAACAATAGAAGGCATTAGAAGAGACCTTCCATATGCGCCCATCACATTCTTCAGCCTACCTATGTCTGCACCTTTGTGCTTTCAGTACTGAAGGTTGGATGAACCGTCTGTCCTCTTCTCTAAGGCTGGCTCCTCTACCTTTGTACCCTTTTTGCCTACCCAGCAATTCTCCCCTCTCTCCTGCATACCCTTTTACTGGGTTATTTCCACTAGCATACAAACCTTTACCTCCCACCTTAAAAAAAGTTTTCACTTTACCCCACATTGTTGTTCACCTACTGCCCCATTTTTCTGCTTCCCCTTATGGCAAAACTCCTCAAAGTTTCTTTTCTCCCATTCTCTGTTGAACCCAGTCTAGGTAGACTTCTCTCTCTTCCACTCCATTGAAATAGCCCTTGTCAAAGTCACCAGTTACTTTCACATTGTTAAATCCAGTGGTCAGTTTTCAGCCCCCATCTTACTTGACCTACCAGCAGCATTTAACAGAGTTGATCACTCCTTTTCTTCCCTTGGTTCTAATGCTCTCTTGGGTTCCCTGCCACCTCACTGACTGTTCCTTTTTTTCTTTATTGCTGGATTTTCATCCTCTTTCTAGCCTTCAGATGTTAACATGTCCAGGGTTCAGTCCTCAAGAAGAGTTCTAAGTGTTTTTGAAACAGGGTCTCATGCTGTCACCCAGGCTGGAATACAGTGGCACAATCATGTCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTCCCATCTCAGCCCCCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTATTTTTTTATTTCTAGTAGAGACAAGGTCTTGCTACGTTGCCCAGGCTGGTCTTAAACTCCTCGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCCGGGATAACAGGCGTGAGCCACTGTGCTCAGACTTTTTTTTTTAGTTTTTATAGAGACAAGGTCTTGCTATGTTGCCCAGGCTGGTCATGGACTCCTGGGTTCAAGTAATCCTCCCATCTCAGCCTGCCAAAGTGGGGATTACAGGCATGAGCCTGGCCTTCTTCCTCATTTTATTAAATGGCAATTCTTTTCTTCCAGTTACTCAACCAAAATTCTGGTTTTTCTTTACTCCACAGGCCCTCTTCAATGCCATCATCCCAGATCACCATGCAGAAGCCTTCTCTCCTCCTCGCCTGGCCCCCTCAGGCTTTGTGGACCAACTCGTGGAAGGTCTTCTGGGCGGCCTGTCTCACTGGGATGCTGAACACTTCTTGTTCATTGCTGAGCATGGCTACCTGTATGAGCACAACTTTGCCTTCTTTCCTGGTTTCCCCTTGGCCCTGCTGGTGGGGACTGAACTGTTGAGACCCTTACGGGGGTTACTGAGTCTACGCAGTTGCCTGCTGATTTCGGTAGCATCACTCAATTTCTTGTTCTTCATGTTGGCTGCAGTTGCACTTCATGACCTGGGTTGTCTGGTTTTGCACTGTCCCCACCAGTCCTTTTATGCAGCTCTGCTTTTCTGTCTCAGCCCTGCCAATGTCTTCCTGGCAGCTGGTTACTCAGAAGCTTTGTTTGCCCTCCTGACATTCAGTGCCATGGGGCAGCTGGAGAGGGGCCGAGTCTGGACTAGTGTACTCCTCTTTGCCTTTGCCACTGGGGTACGCTCCAACGGGCTGGTCAGTGTTGGCTTCCTCATGCATTCTCAATGCCAAGGCTTTTTCTCTTCTCTAACGATGCTGAATCCTCTGAGACAGCTCTTTAAGCTGATGGCCTCTCTGTTTCTGTCGGTGTTCACACTTGGCCTTCCCTTTGCCCTCTTTCAGTATTATGCCTACACCCAATTCTGTCTGCCAGGCTCAGCCCGCCCCATTCCTGAGCCTTTGGTACAGTTAGCTGTAGACAAGGGCTACCGGATTGCAGAGGGAAATGAACCGCCTTGGTGCTTCTGGGATGTTCCACTAATATACAGCTATATCCAGGATGTCTACTGGAATGTTGGCTTTTTGAAATACTATGAGCTCAAGCAGGTGCCCAATTTTCTACTGGCTGCACCAGTGGCTATACTGGTTGCCTGGGCAACTTGGACATACGTGACCACTCACCCTTGGCTCTGCCTTACACTTGGGCTGCAAAGGAGCAAGAACAATAAGACCCTAGAGAAGCCCGATCTTGGATTCCTCAGTCCTCAGGTGTTTGTGTACGTGGTCCACGCTGCAGTGCTGCTGCTGTTTGGAGGTCTGTGCATGCATGTTCAGGTGAGGTGGATTCCTGACTGGGATAAGGATGTGAATACAGGCAAAACCCCTTGGCCAAGGACAGGGAAGGCAGCTAACATCTCCCGTTTGAGTGATCCATACTGAATTTATTCATTCAATGACTATTTAGGGTTATTCTTTATGCCAGACTCTGGGTCAGACCTCTAAGGATGAAACATAAATAAGACAAAATTGCGGCCAGGCGCGGTGGCTCACACCCATAATCCCAGCAATTTGGGAGGCTGAGGTGGGTGGATCACAAGGTCAGGGGTTCAAGACCAGCGTGGCCAAGATGTTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGAAAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTACTGCCTTGGGGGGTCTCATGGTATAAATAGGAGGACAGACATTTGACATAAATTATAGTACAGTGGGATAGAAAAGGGAGTGCTATTTTGAGATTTATTTTATTTTACTTTATTTATTTATTTATTTATTTATTTTTTTAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTGTGTCTCCTGGGTTCAAGCGACTCTTCTGCCTCAATCTCCCGAGTAGCTGGAATTCCAGGCGCCTGCCACCACCGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAAATCCTGACCTCAAGTGATCTGCCCGCCTCATCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCTACCACGCTCGGCCTGAGATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTGAGCCAGGATGGTCTGGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTATAGGCACGAGCCACTGCGCCCAGCAAGATTTTTTTTTTTAAAGCTCAGATAAAGTATTATGGAGGCGAAGAAGTAGGTAACTCACTGGAGTACTTGAGAAAGGCATCATATTTCAGCTGGGTCCTGAAGAATGAGATTTTCCATATAAGAAGCAGAGGAGGAACATTCTAGGTAAAAGGAAGGGCATATGCAAAAACACGAGGGTTGTGAAAGGACCTGATTGGACTGAGATACAGGAATAAGCACGGAGGATATCTCTGGGATCTTTTTCCCTAATACACAGTTATAGTTATATCCATATTGGTTTCTTGACTGTTGACTTCAGGAGGTTCTCAACTCAGGCAGGCCCCCAATTTCCAGAGGAGATAACCTTAACCAATGTTTTGGGTGGTGGCGGTGGTGATA
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ATCCTTGACGGTTTTGGCTCCTGGTTCACTGTCACTCTTCCCAGCACTACTTCTATTGATTTCCTGGTGATTTCATTATTAATGAAGATGATGTGTGCAGTGTCCTGAAAAGAGTCTATCACTTGAGTGTGAGTTCTGGGGAAAGGGTGTTAGAGATTTGAGGAAAGAGAAAAACATGTAACATGTAACAAATTGTTTTCCTAAATGACAACTCAGAACAATAGAAGGCATTAGAAGAGACCTTCCATATGCGCCCATCACATTCTTCAGCCTACCTATGTCTGCACCTTTGTGCTTTCAGTACTGAAGGTTGGATGAACCGTCTGTCCTCTTCTCTAAGGCTGGCTCCTCTACCTTTGTACCCTTTTTGCCTACCCAGCAATTCTCCCCTCTCTCCTGCATACCCTTTTACTGGGTTATTTCCACTAGCATACAAACCTTTACCTCCCACCTTAAAAAAAGTTTTCACTTTACCCCACATTGTTGTTCACCTACTGCCCCATTTTTCTGCTTCCCCTTATGGCAAAACTCCTCAAAGTTTCTTTTCTCCCATTCTCTGTTGAACCCAGTCTAGGTAGACTTCTCTCTCTTCCACTCCATTGAAATAGCCCTTGTCAAAGTCACCAGTTACTTTCACATTGTTAAATCCAGTGGTCAGTTTTCAGCCCCCATCTTACTTGACCTACCAGCAGCATTTAACAGAGTTGATCACTCCTTTTCTTCCCTTGGTTCTAATGCTCTCTTGGGTTCCCTGCCACCTCACTGACTGTTCCTTTTTTTCTTTATTGCTGGATTTTCATCCTCTTTCTAGCCTTCAGATGTTAACATGTCCAGGGTTCAGTCCTCAAGAAGAGTTCTAAGTGTTTTTGAAACAGGGTCTCATGCTGTCACCCAGGCTGGAATACAGTGGCACAATCATGTCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTCCCATCTCAGCCCCCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTATTTTTTTATTTCTAGTAGAGACAAGGTCTTGCTACGTTGCCCAGGCTGGTCTTAAACTCCTCGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCCGGGATAACAGGCGTGAGCCACTGTGCTCAGACTTTTTTTTTTAGTTTTTATAGAGACAAGGTCTTGCTATGTTGCCCAGGCTGGTCATGGACTCCTGGGTTCAAGTAATCCTCCCATCTCAGCCTGCCAAAGTGGGGATTACAGGCATGAGCCTGGCCTTCTTCCTCATTTTATTAAATGGCAATTCTTTTCTTCCAGTTACTCAACCAAAATTCTGGTTTTTCTTTACTCCACAGGCCCTCTTCAATGCCATCATCCCAGATCACCATGCAGAAGCCTTCTCTCCTCCTCGCCTGGCCCCCTCAGGCTTTGTGGACCAACTCGTGGAAGGTCTTCTGGGCGGCCTGTCTCACTGGGATGCTGAACACTTCTTGTTCATTGCTGAGCATGGCTACCTGTATGAGCACAACTTTGCCTTCTTTCCTGGTTTCCCCTTGGCCCTGCTGGTGGGGACTGAACTGTTGAGACCCTTACGGGGGTTACTGAGTCTACGCAGTTGCCTGCTGATTTCGGTAGCATCACTCAATTTCTTGTTCTTCATGTTGGCTGCAGTTGCACTTCATGACCTGGGTTGTCTGGTTTTGCACTGTCCCCACCAGTCCTTTTATGCAGCTCTGCTTTTCTGTCTCAGCCCTGCCAATGTCTTCCTGGCAGCTGGTTACTCAGAAGCTTTGTTTGCCCTCCTGACATTCAGTGCCATGGGGCAGCTGGAGAGGGGCCGAGTCTGGACTAGTGTACTCCTCTTTGCCTTTGCCACTGGGGTACGCTCCAACGGGCTGGTCAGTGTTGGCTTCCTCATGCATTCTCAATGCCAAGGCTTTTTCTCTTCTCTAACGATGCTGAATCCTCTGAGACAGCTCTTTAAGCTGATGGCCTCTCTGTTTCTGTCGGTGTTCACACTTGGCCTTCCCTTTGCCCTCTTTAAGTATTATGCCTACACCCAATTCTGTCTGCCAGGCTCAGCCCGCCCCATTCCTGAGCCTTTGGTACAGTTAGCTGTAGACAAGGGCTACCGGATTGCAGAGGGAAATGAACCGCCTTGGTGCTTCTGGGATGTTCCACTAATATACAGCTATATCCAGGATGTCTACTGGAATGTTGGCTTTTTGAAATACTATGAGCTCAAGCAGGTGCCCAATTTTCTACTGGCTGCACCAGTGGCTATACTGGTTGCCTGGGCAACTTGGACATACGTGACCACTCACCCTTGGCTCTGCCTTACACTTGGGCTGCAAAGGAGCAAGAACAATAAGACCCTAGAGAAGCCCGATCTTGGATTCCTCAGTCCTCAGGTGTTTGTGTACGTGGTCCACGCTGCAGTGCTGCTGCTGTTTGGAGGTCTGTGCATGCATGTTCAGGTGAGGTGGATTCCTGACTGGGATAAGGATGTGAATACAGGCAAAACCCCTTGGCCAAGGACAGGGAAGGCAGCTAACATCTCCCGTTTGAGTGATCCATACTGAATTTATTCATTCAATGACTATTTAGGGTTATTCTTTATGCCAGACTCTGGGTCAGACCTCTAAGGATGAAACATAAATAAGACAAAATTGCGGCCAGGCGCGGTGGCTCACACCCATAATCCCAGCAATTTGGGAGGCTGAGGTGGGTGGATCACAAGGTCAGGGGTTCAAGACCAGCGTGGCCAAGATGTTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGAAAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTACTGCCTTGGGGGGTCTCATGGTATAAATAGGAGGACAGACATTTGACATAAATTATAGTACAGTGGGATAGAAAAGGGAGTGCTATTTTGAGATTTATTTTATTTTACTTTATTTATTTATTTATTTATTTATTTTTTTAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTGTGTCTCCTGGGTTCAAGCGACTCTTCTGCCTCAATCTCCCGAGTAGCTGGAATTCCAGGCGCCTGCCACCACCGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAAATCCTGACCTCAAGTGATCTGCCCGCCTCATCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCTACCACGCTCGGCCTGAGATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTGAGCCAGGATGGTCTGGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTATAGGCACGAGCCACTGCGCCCAGCAAGATTTTTTTTTTTAAAGCTCAGATAAAGTATTATGGAGGCGAAGAAGTAGGTAACTCACTGGAGTACTTGAGAAAGGCATCATATTTCAGCTGGGTCCTGAAGAATGAGATTTTCCATATAAGAAGCAGAGGAGGAACATTCTAGGTAAAAGGAAGGGCATATGCAAAAACACGAGGGTTGTGAAAGGACCTGATTGGACTGAGATACAGGAATAAGCACGGAGGATATCTCTGGGATCTTTTTCCCTAATACACAGTTATAGTTATATCCATATTGGTTTCTTGACTGTTGACTTCAGGAGGTTCTCAACTCAGGCAGGCCCCCAATTTCCAGAGGAGATAACCTTAACCAATGTTTTGGGTGGTGGCGGTGGTGATA
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Task1_train_626
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The following genetic variant occurs in PIGV (phosphatidylinositol glycan anchor biosynthesis class V) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Hyperphosphatasia with intellectual disability syndrome 1
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ATCACATTCTTCAGCCTACCTATGTCTGCACCTTTGTGCTTTCAGTACTGAAGGTTGGATGAACCGTCTGTCCTCTTCTCTAAGGCTGGCTCCTCTACCTTTGTACCCTTTTTGCCTACCCAGCAATTCTCCCCTCTCTCCTGCATACCCTTTTACTGGGTTATTTCCACTAGCATACAAACCTTTACCTCCCACCTTAAAAAAAGTTTTCACTTTACCCCACATTGTTGTTCACCTACTGCCCCATTTTTCTGCTTCCCCTTATGGCAAAACTCCTCAAAGTTTCTTTTCTCCCATTCTCTGTTGAACCCAGTCTAGGTAGACTTCTCTCTCTTCCACTCCATTGAAATAGCCCTTGTCAAAGTCACCAGTTACTTTCACATTGTTAAATCCAGTGGTCAGTTTTCAGCCCCCATCTTACTTGACCTACCAGCAGCATTTAACAGAGTTGATCACTCCTTTTCTTCCCTTGGTTCTAATGCTCTCTTGGGTTCCCTGCCACCTCACTGACTGTTCCTTTTTTTCTTTATTGCTGGATTTTCATCCTCTTTCTAGCCTTCAGATGTTAACATGTCCAGGGTTCAGTCCTCAAGAAGAGTTCTAAGTGTTTTTGAAACAGGGTCTCATGCTGTCACCCAGGCTGGAATACAGTGGCACAATCATGTCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTCCCATCTCAGCCCCCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTATTTTTTTATTTCTAGTAGAGACAAGGTCTTGCTACGTTGCCCAGGCTGGTCTTAAACTCCTCGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCCGGGATAACAGGCGTGAGCCACTGTGCTCAGACTTTTTTTTTTAGTTTTTATAGAGACAAGGTCTTGCTATGTTGCCCAGGCTGGTCATGGACTCCTGGGTTCAAGTAATCCTCCCATCTCAGCCTGCCAAAGTGGGGATTACAGGCATGAGCCTGGCCTTCTTCCTCATTTTATTAAATGGCAATTCTTTTCTTCCAGTTACTCAACCAAAATTCTGGTTTTTCTTTACTCCACAGGCCCTCTTCAATGCCATCATCCCAGATCACCATGCAGAAGCCTTCTCTCCTCCTCGCCTGGCCCCCTCAGGCTTTGTGGACCAACTCGTGGAAGGTCTTCTGGGCGGCCTGTCTCACTGGGATGCTGAACACTTCTTGTTCATTGCTGAGCATGGCTACCTGTATGAGCACAACTTTGCCTTCTTTCCTGGTTTCCCCTTGGCCCTGCTGGTGGGGACTGAACTGTTGAGACCCTTACGGGGGTTACTGAGTCTACGCAGTTGCCTGCTGATTTCGGTAGCATCACTCAATTTCTTGTTCTTCATGTTGGCTGCAGTTGCACTTCATGACCTGGGTTGTCTGGTTTTGCACTGTCCCCACCAGTCCTTTTATGCAGCTCTGCTTTTCTGTCTCAGCCCTGCCAATGTCTTCCTGGCAGCTGGTTACTCAGAAGCTTTGTTTGCCCTCCTGACATTCAGTGCCATGGGGCAGCTGGAGAGGGGCCGAGTCTGGACTAGTGTACTCCTCTTTGCCTTTGCCACTGGGGTACGCTCCAACGGGCTGGTCAGTGTTGGCTTCCTCATGCATTCTCAATGCCAAGGCTTTTTCTCTTCTCTAACGATGCTGAATCCTCTGAGACAGCTCTTTAAGCTGATGGCCTCTCTGTTTCTGTCGGTGTTCACACTTGGCCTTCCCTTTGCCCTCTTTCAGTATTATGCCTACACCCAATTCTGTCTGCCAGGCTCAGCCCGCCCCATTCCTGAGCCTTTGGTACAGTTAGCTGTAGACAAGGGCTACCGGATTGCAGAGGGAAATGAACCGCCTTGGTGCTTCTGGGATGTTCCACTAATATACAGCTATATCCAGGATGTCTACTGGAATGTTGGCTTTTTGAAATACTATGAGCTCAAGCAGGTGCCCAATTTTCTACTGGCTGCACCAGTGGCTATACTGGTTGCCTGGGCAACTTGGACATACGTGACCACTCACCCTTGGCTCTGCCTTACACTTGGGCTGCAAAGGAGCAAGAACAATAAGACCCTAGAGAAGCCCGATCTTGGATTCCTCAGTCCTCAGGTGTTTGTGTACGTGGTCCACGCTGCAGTGCTGCTGCTGTTTGGAGGTCTGTGCATGCATGTTCAGGTGAGGTGGATTCCTGACTGGGATAAGGATGTGAATACAGGCAAAACCCCTTGGCCAAGGACAGGGAAGGCAGCTAACATCTCCCGTTTGAGTGATCCATACTGAATTTATTCATTCAATGACTATTTAGGGTTATTCTTTATGCCAGACTCTGGGTCAGACCTCTAAGGATGAAACATAAATAAGACAAAATTGCGGCCAGGCGCGGTGGCTCACACCCATAATCCCAGCAATTTGGGAGGCTGAGGTGGGTGGATCACAAGGTCAGGGGTTCAAGACCAGCGTGGCCAAGATGTTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGAAAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTACTGCCTTGGGGGGTCTCATGGTATAAATAGGAGGACAGACATTTGACATAAATTATAGTACAGTGGGATAGAAAAGGGAGTGCTATTTTGAGATTTATTTTATTTTACTTTATTTATTTATTTATTTATTTATTTTTTTAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTGTGTCTCCTGGGTTCAAGCGACTCTTCTGCCTCAATCTCCCGAGTAGCTGGAATTCCAGGCGCCTGCCACCACCGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAAATCCTGACCTCAAGTGATCTGCCCGCCTCATCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCTACCACGCTCGGCCTGAGATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTGAGCCAGGATGGTCTGGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTATAGGCACGAGCCACTGCGCCCAGCAAGATTTTTTTTTTTAAAGCTCAGATAAAGTATTATGGAGGCGAAGAAGTAGGTAACTCACTGGAGTACTTGAGAAAGGCATCATATTTCAGCTGGGTCCTGAAGAATGAGATTTTCCATATAAGAAGCAGAGGAGGAACATTCTAGGTAAAAGGAAGGGCATATGCAAAAACACGAGGGTTGTGAAAGGACCTGATTGGACTGAGATACAGGAATAAGCACGGAGGATATCTCTGGGATCTTTTTCCCTAATACACAGTTATAGTTATATCCATATTGGTTTCTTGACTGTTGACTTCAGGAGGTTCTCAACTCAGGCAGGCCCCCAATTTCCAGAGGAGATAACCTTAACCAATGTTTTGGGTGGTGGCGGTGGTGATAGAGAGGGATGGGAAAGGTTTGATCTTATATCTGATTTTCTGTTCTTGGCTGTGGCCCCACCCTGGGGACATCTTTTTTCCCCATGCCGACCTCTTAGCAGTTTCTTCCTGTTGGAGTTGCACATTGGCTGTTTCTAAAATTCTCCAAGCTGTATGGATAAGAGACACAGAGGAAATAGAAAGTAGCATTCCGTGTTTTTAGCTAGATTAAATCGTAGAATGTGTGCCAGCAAAGCTTAAAGTTTCCAGGTTAGCTG
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ATCACATTCTTCAGCCTACCTATGTCTGCACCTTTGTGCTTTCAGTACTGAAGGTTGGATGAACCGTCTGTCCTCTTCTCTAAGGCTGGCTCCTCTACCTTTGTACCCTTTTTGCCTACCCAGCAATTCTCCCCTCTCTCCTGCATACCCTTTTACTGGGTTATTTCCACTAGCATACAAACCTTTACCTCCCACCTTAAAAAAAGTTTTCACTTTACCCCACATTGTTGTTCACCTACTGCCCCATTTTTCTGCTTCCCCTTATGGCAAAACTCCTCAAAGTTTCTTTTCTCCCATTCTCTGTTGAACCCAGTCTAGGTAGACTTCTCTCTCTTCCACTCCATTGAAATAGCCCTTGTCAAAGTCACCAGTTACTTTCACATTGTTAAATCCAGTGGTCAGTTTTCAGCCCCCATCTTACTTGACCTACCAGCAGCATTTAACAGAGTTGATCACTCCTTTTCTTCCCTTGGTTCTAATGCTCTCTTGGGTTCCCTGCCACCTCACTGACTGTTCCTTTTTTTCTTTATTGCTGGATTTTCATCCTCTTTCTAGCCTTCAGATGTTAACATGTCCAGGGTTCAGTCCTCAAGAAGAGTTCTAAGTGTTTTTGAAACAGGGTCTCATGCTGTCACCCAGGCTGGAATACAGTGGCACAATCATGTCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTCCCATCTCAGCCCCCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTATTTTTTTATTTCTAGTAGAGACAAGGTCTTGCTACGTTGCCCAGGCTGGTCTTAAACTCCTCGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCCGGGATAACAGGCGTGAGCCACTGTGCTCAGACTTTTTTTTTTAGTTTTTATAGAGACAAGGTCTTGCTATGTTGCCCAGGCTGGTCATGGACTCCTGGGTTCAAGTAATCCTCCCATCTCAGCCTGCCAAAGTGGGGATTACAGGCATGAGCCTGGCCTTCTTCCTCATTTTATTAAATGGCAATTCTTTTCTTCCAGTTACTCAACCAAAATTCTGGTTTTTCTTTACTCCACAGGCCCTCTTCAATGCCATCATCCCAGATCACCATGCAGAAGCCTTCTCTCCTCCTCGCCTGGCCCCCTCAGGCTTTGTGGACCAACTCGTGGAAGGTCTTCTGGGCGGCCTGTCTCACTGGGATGCTGAACACTTCTTGTTCATTGCTGAGCATGGCTACCTGTATGAGCACAACTTTGCCTTCTTTCCTGGTTTCCCCTTGGCCCTGCTGGTGGGGACTGAACTGTTGAGACCCTTACGGGGGTTACTGAGTCTACGCAGTTGCCTGCTGATTTCGGTAGCATCACTCAATTTCTTGTTCTTCATGTTGGCTGCAGTTGCACTTCATGACCTGGGTTGTCTGGTTTTGCACTGTCCCCACCAGTCCTTTTATGCAGCTCTGCTTTTCTGTCTCAGCCCTGCCAATGTCTTCCTGGCAGCTGGTTACTCAGAAGCTTTGTTTGCCCTCCTGACATTCAGTGCCATGGGGCAGCTGGAGAGGGGCCGAGTCTGGACTAGTGTACTCCTCTTTGCCTTTGCCACTGGGGTACGCTCCAACGGGCTGGTCAGTGTTGGCTTCCTCATGCATTCTCAATGCCAAGGCTTTTTCTCTTCTCTAACGATGCTGAATCCTCTGAGACAGCTCTTTAAGCTGATGGCCTCTCTGTTTCTGTCGGTGTTCACACTTGGCCTTCCCTTTGCCCTCTTTCAGTATTATGCCTACACCCAATTCTGTCTGCCAGGCTCAGCCCGCCCCATTCCTGAGCCTTTGGTACAGTTAGCTGTAGACAAGGGCTACCGGATTGCAGAGGGAAATGAACCGCCTTGGTGCTTCTGGGATGTTCCACTAATATACAGCTATATCCAGGATGTCTACTGGAATGTTGGCTTTTTGAAATACTATGAGCTCAAGCAGGTGCCCAATTTTCTACTGGCTGCACCAGTGGCTATACTGGTTGCCTGGGTAACTTGGACATACGTGACCACTCACCCTTGGCTCTGCCTTACACTTGGGCTGCAAAGGAGCAAGAACAATAAGACCCTAGAGAAGCCCGATCTTGGATTCCTCAGTCCTCAGGTGTTTGTGTACGTGGTCCACGCTGCAGTGCTGCTGCTGTTTGGAGGTCTGTGCATGCATGTTCAGGTGAGGTGGATTCCTGACTGGGATAAGGATGTGAATACAGGCAAAACCCCTTGGCCAAGGACAGGGAAGGCAGCTAACATCTCCCGTTTGAGTGATCCATACTGAATTTATTCATTCAATGACTATTTAGGGTTATTCTTTATGCCAGACTCTGGGTCAGACCTCTAAGGATGAAACATAAATAAGACAAAATTGCGGCCAGGCGCGGTGGCTCACACCCATAATCCCAGCAATTTGGGAGGCTGAGGTGGGTGGATCACAAGGTCAGGGGTTCAAGACCAGCGTGGCCAAGATGTTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGAAAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTACTGCCTTGGGGGGTCTCATGGTATAAATAGGAGGACAGACATTTGACATAAATTATAGTACAGTGGGATAGAAAAGGGAGTGCTATTTTGAGATTTATTTTATTTTACTTTATTTATTTATTTATTTATTTATTTTTTTAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTGTGTCTCCTGGGTTCAAGCGACTCTTCTGCCTCAATCTCCCGAGTAGCTGGAATTCCAGGCGCCTGCCACCACCGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAAATCCTGACCTCAAGTGATCTGCCCGCCTCATCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCTACCACGCTCGGCCTGAGATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTGAGCCAGGATGGTCTGGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTATAGGCACGAGCCACTGCGCCCAGCAAGATTTTTTTTTTTAAAGCTCAGATAAAGTATTATGGAGGCGAAGAAGTAGGTAACTCACTGGAGTACTTGAGAAAGGCATCATATTTCAGCTGGGTCCTGAAGAATGAGATTTTCCATATAAGAAGCAGAGGAGGAACATTCTAGGTAAAAGGAAGGGCATATGCAAAAACACGAGGGTTGTGAAAGGACCTGATTGGACTGAGATACAGGAATAAGCACGGAGGATATCTCTGGGATCTTTTTCCCTAATACACAGTTATAGTTATATCCATATTGGTTTCTTGACTGTTGACTTCAGGAGGTTCTCAACTCAGGCAGGCCCCCAATTTCCAGAGGAGATAACCTTAACCAATGTTTTGGGTGGTGGCGGTGGTGATAGAGAGGGATGGGAAAGGTTTGATCTTATATCTGATTTTCTGTTCTTGGCTGTGGCCCCACCCTGGGGACATCTTTTTTCCCCATGCCGACCTCTTAGCAGTTTCTTCCTGTTGGAGTTGCACATTGGCTGTTTCTAAAATTCTCCAAGCTGTATGGATAAGAGACACAGAGGAAATAGAAAGTAGCATTCCGTGTTTTTAGCTAGATTAAATCGTAGAATGTGTGCCAGCAAAGCTTAAAGTTTCCAGGTTAGCTG
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Task1_train_627
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Here is a genetic alteration in PIGV (phosphatidylinositol glycan anchor biosynthesis class V) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Hyperphosphatasia with intellectual disability syndrome 1
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CCTCTCTCCTGCATACCCTTTTACTGGGTTATTTCCACTAGCATACAAACCTTTACCTCCCACCTTAAAAAAAGTTTTCACTTTACCCCACATTGTTGTTCACCTACTGCCCCATTTTTCTGCTTCCCCTTATGGCAAAACTCCTCAAAGTTTCTTTTCTCCCATTCTCTGTTGAACCCAGTCTAGGTAGACTTCTCTCTCTTCCACTCCATTGAAATAGCCCTTGTCAAAGTCACCAGTTACTTTCACATTGTTAAATCCAGTGGTCAGTTTTCAGCCCCCATCTTACTTGACCTACCAGCAGCATTTAACAGAGTTGATCACTCCTTTTCTTCCCTTGGTTCTAATGCTCTCTTGGGTTCCCTGCCACCTCACTGACTGTTCCTTTTTTTCTTTATTGCTGGATTTTCATCCTCTTTCTAGCCTTCAGATGTTAACATGTCCAGGGTTCAGTCCTCAAGAAGAGTTCTAAGTGTTTTTGAAACAGGGTCTCATGCTGTCACCCAGGCTGGAATACAGTGGCACAATCATGTCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTCCCATCTCAGCCCCCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTATTTTTTTATTTCTAGTAGAGACAAGGTCTTGCTACGTTGCCCAGGCTGGTCTTAAACTCCTCGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCCGGGATAACAGGCGTGAGCCACTGTGCTCAGACTTTTTTTTTTAGTTTTTATAGAGACAAGGTCTTGCTATGTTGCCCAGGCTGGTCATGGACTCCTGGGTTCAAGTAATCCTCCCATCTCAGCCTGCCAAAGTGGGGATTACAGGCATGAGCCTGGCCTTCTTCCTCATTTTATTAAATGGCAATTCTTTTCTTCCAGTTACTCAACCAAAATTCTGGTTTTTCTTTACTCCACAGGCCCTCTTCAATGCCATCATCCCAGATCACCATGCAGAAGCCTTCTCTCCTCCTCGCCTGGCCCCCTCAGGCTTTGTGGACCAACTCGTGGAAGGTCTTCTGGGCGGCCTGTCTCACTGGGATGCTGAACACTTCTTGTTCATTGCTGAGCATGGCTACCTGTATGAGCACAACTTTGCCTTCTTTCCTGGTTTCCCCTTGGCCCTGCTGGTGGGGACTGAACTGTTGAGACCCTTACGGGGGTTACTGAGTCTACGCAGTTGCCTGCTGATTTCGGTAGCATCACTCAATTTCTTGTTCTTCATGTTGGCTGCAGTTGCACTTCATGACCTGGGTTGTCTGGTTTTGCACTGTCCCCACCAGTCCTTTTATGCAGCTCTGCTTTTCTGTCTCAGCCCTGCCAATGTCTTCCTGGCAGCTGGTTACTCAGAAGCTTTGTTTGCCCTCCTGACATTCAGTGCCATGGGGCAGCTGGAGAGGGGCCGAGTCTGGACTAGTGTACTCCTCTTTGCCTTTGCCACTGGGGTACGCTCCAACGGGCTGGTCAGTGTTGGCTTCCTCATGCATTCTCAATGCCAAGGCTTTTTCTCTTCTCTAACGATGCTGAATCCTCTGAGACAGCTCTTTAAGCTGATGGCCTCTCTGTTTCTGTCGGTGTTCACACTTGGCCTTCCCTTTGCCCTCTTTCAGTATTATGCCTACACCCAATTCTGTCTGCCAGGCTCAGCCCGCCCCATTCCTGAGCCTTTGGTACAGTTAGCTGTAGACAAGGGCTACCGGATTGCAGAGGGAAATGAACCGCCTTGGTGCTTCTGGGATGTTCCACTAATATACAGCTATATCCAGGATGTCTACTGGAATGTTGGCTTTTTGAAATACTATGAGCTCAAGCAGGTGCCCAATTTTCTACTGGCTGCACCAGTGGCTATACTGGTTGCCTGGGCAACTTGGACATACGTGACCACTCACCCTTGGCTCTGCCTTACACTTGGGCTGCAAAGGAGCAAGAACAATAAGACCCTAGAGAAGCCCGATCTTGGATTCCTCAGTCCTCAGGTGTTTGTGTACGTGGTCCACGCTGCAGTGCTGCTGCTGTTTGGAGGTCTGTGCATGCATGTTCAGGTGAGGTGGATTCCTGACTGGGATAAGGATGTGAATACAGGCAAAACCCCTTGGCCAAGGACAGGGAAGGCAGCTAACATCTCCCGTTTGAGTGATCCATACTGAATTTATTCATTCAATGACTATTTAGGGTTATTCTTTATGCCAGACTCTGGGTCAGACCTCTAAGGATGAAACATAAATAAGACAAAATTGCGGCCAGGCGCGGTGGCTCACACCCATAATCCCAGCAATTTGGGAGGCTGAGGTGGGTGGATCACAAGGTCAGGGGTTCAAGACCAGCGTGGCCAAGATGTTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGAAAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTACTGCCTTGGGGGGTCTCATGGTATAAATAGGAGGACAGACATTTGACATAAATTATAGTACAGTGGGATAGAAAAGGGAGTGCTATTTTGAGATTTATTTTATTTTACTTTATTTATTTATTTATTTATTTATTTTTTTAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTGTGTCTCCTGGGTTCAAGCGACTCTTCTGCCTCAATCTCCCGAGTAGCTGGAATTCCAGGCGCCTGCCACCACCGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAAATCCTGACCTCAAGTGATCTGCCCGCCTCATCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCTACCACGCTCGGCCTGAGATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTGAGCCAGGATGGTCTGGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTATAGGCACGAGCCACTGCGCCCAGCAAGATTTTTTTTTTTAAAGCTCAGATAAAGTATTATGGAGGCGAAGAAGTAGGTAACTCACTGGAGTACTTGAGAAAGGCATCATATTTCAGCTGGGTCCTGAAGAATGAGATTTTCCATATAAGAAGCAGAGGAGGAACATTCTAGGTAAAAGGAAGGGCATATGCAAAAACACGAGGGTTGTGAAAGGACCTGATTGGACTGAGATACAGGAATAAGCACGGAGGATATCTCTGGGATCTTTTTCCCTAATACACAGTTATAGTTATATCCATATTGGTTTCTTGACTGTTGACTTCAGGAGGTTCTCAACTCAGGCAGGCCCCCAATTTCCAGAGGAGATAACCTTAACCAATGTTTTGGGTGGTGGCGGTGGTGATAGAGAGGGATGGGAAAGGTTTGATCTTATATCTGATTTTCTGTTCTTGGCTGTGGCCCCACCCTGGGGACATCTTTTTTCCCCATGCCGACCTCTTAGCAGTTTCTTCCTGTTGGAGTTGCACATTGGCTGTTTCTAAAATTCTCCAAGCTGTATGGATAAGAGACACAGAGGAAATAGAAAGTAGCATTCCGTGTTTTTAGCTAGATTAAATCGTAGAATGTGTGCCAGCAAAGCTTAAAGTTTCCAGGTTAGCTGAGGGAGGCCATTTGGAAACTTGTGTCTGAACTCCAATAGGAGAGAGAATGTTCAAGCAATGGGTCTTCTGCCCATTTCCCTCTGCTTTGCCATCCCATGGGATAAGGGAACCACCTCAGGTTCCCAATCCCC
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CCTCTCTCCTGCATACCCTTTTACTGGGTTATTTCCACTAGCATACAAACCTTTACCTCCCACCTTAAAAAAAGTTTTCACTTTACCCCACATTGTTGTTCACCTACTGCCCCATTTTTCTGCTTCCCCTTATGGCAAAACTCCTCAAAGTTTCTTTTCTCCCATTCTCTGTTGAACCCAGTCTAGGTAGACTTCTCTCTCTTCCACTCCATTGAAATAGCCCTTGTCAAAGTCACCAGTTACTTTCACATTGTTAAATCCAGTGGTCAGTTTTCAGCCCCCATCTTACTTGACCTACCAGCAGCATTTAACAGAGTTGATCACTCCTTTTCTTCCCTTGGTTCTAATGCTCTCTTGGGTTCCCTGCCACCTCACTGACTGTTCCTTTTTTTCTTTATTGCTGGATTTTCATCCTCTTTCTAGCCTTCAGATGTTAACATGTCCAGGGTTCAGTCCTCAAGAAGAGTTCTAAGTGTTTTTGAAACAGGGTCTCATGCTGTCACCCAGGCTGGAATACAGTGGCACAATCATGTCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTCCCATCTCAGCCCCCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTATTTTTTTATTTCTAGTAGAGACAAGGTCTTGCTACGTTGCCCAGGCTGGTCTTAAACTCCTCGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCCGGGATAACAGGCGTGAGCCACTGTGCTCAGACTTTTTTTTTTAGTTTTTATAGAGACAAGGTCTTGCTATGTTGCCCAGGCTGGTCATGGACTCCTGGGTTCAAGTAATCCTCCCATCTCAGCCTGCCAAAGTGGGGATTACAGGCATGAGCCTGGCCTTCTTCCTCATTTTATTAAATGGCAATTCTTTTCTTCCAGTTACTCAACCAAAATTCTGGTTTTTCTTTACTCCACAGGCCCTCTTCAATGCCATCATCCCAGATCACCATGCAGAAGCCTTCTCTCCTCCTCGCCTGGCCCCCTCAGGCTTTGTGGACCAACTCGTGGAAGGTCTTCTGGGCGGCCTGTCTCACTGGGATGCTGAACACTTCTTGTTCATTGCTGAGCATGGCTACCTGTATGAGCACAACTTTGCCTTCTTTCCTGGTTTCCCCTTGGCCCTGCTGGTGGGGACTGAACTGTTGAGACCCTTACGGGGGTTACTGAGTCTACGCAGTTGCCTGCTGATTTCGGTAGCATCACTCAATTTCTTGTTCTTCATGTTGGCTGCAGTTGCACTTCATGACCTGGGTTGTCTGGTTTTGCACTGTCCCCACCAGTCCTTTTATGCAGCTCTGCTTTTCTGTCTCAGCCCTGCCAATGTCTTCCTGGCAGCTGGTTACTCAGAAGCTTTGTTTGCCCTCCTGACATTCAGTGCCATGGGGCAGCTGGAGAGGGGCCGAGTCTGGACTAGTGTACTCCTCTTTGCCTTTGCCACTGGGGTACGCTCCAACGGGCTGGTCAGTGTTGGCTTCCTCATGCATTCTCAATGCCAAGGCTTTTTCTCTTCTCTAACGATGCTGAATCCTCTGAGACAGCTCTTTAAGCTGATGGCCTCTCTGTTTCTGTCGGTGTTCACACTTGGCCTTCCCTTTGCCCTCTTTCAGTATTATGCCTACACCCAATTCTGTCTGCCAGGCTCAGCCCGCCCCATTCCTGAGCCTTTGGTACAGTTAGCTGTAGACAAGGGCTACCGGATTGCAGAGGGAAATGAACCGCCTTGGTGCTTCTGGGATGTTCCACTAATATACAGCTATATCCAGGATGTCTACTGGAATGTTGGCTTTTTGAAATACTATGAGCTCAAGCAGGTGCCCAATTTTCTACTGGCTGCACCAGTGGCTATACTGGTTGCCTGGGCAACTTGGACATACGTGACCACTCACCCTTGGCTCTGCCTTACACTTGGGCTGCAAAGGAGCAAGAACAATAAGACCCTAGAGAAGCCCGATCTTGGATTCCTCAGTCCTCAGGTGTTTGTGTACGTGGTCCCCGCTGCAGTGCTGCTGCTGTTTGGAGGTCTGTGCATGCATGTTCAGGTGAGGTGGATTCCTGACTGGGATAAGGATGTGAATACAGGCAAAACCCCTTGGCCAAGGACAGGGAAGGCAGCTAACATCTCCCGTTTGAGTGATCCATACTGAATTTATTCATTCAATGACTATTTAGGGTTATTCTTTATGCCAGACTCTGGGTCAGACCTCTAAGGATGAAACATAAATAAGACAAAATTGCGGCCAGGCGCGGTGGCTCACACCCATAATCCCAGCAATTTGGGAGGCTGAGGTGGGTGGATCACAAGGTCAGGGGTTCAAGACCAGCGTGGCCAAGATGTTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGAAAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTACTGCCTTGGGGGGTCTCATGGTATAAATAGGAGGACAGACATTTGACATAAATTATAGTACAGTGGGATAGAAAAGGGAGTGCTATTTTGAGATTTATTTTATTTTACTTTATTTATTTATTTATTTATTTATTTTTTTAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTGTGTCTCCTGGGTTCAAGCGACTCTTCTGCCTCAATCTCCCGAGTAGCTGGAATTCCAGGCGCCTGCCACCACCGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAAATCCTGACCTCAAGTGATCTGCCCGCCTCATCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCTACCACGCTCGGCCTGAGATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTGAGCCAGGATGGTCTGGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTATAGGCACGAGCCACTGCGCCCAGCAAGATTTTTTTTTTTAAAGCTCAGATAAAGTATTATGGAGGCGAAGAAGTAGGTAACTCACTGGAGTACTTGAGAAAGGCATCATATTTCAGCTGGGTCCTGAAGAATGAGATTTTCCATATAAGAAGCAGAGGAGGAACATTCTAGGTAAAAGGAAGGGCATATGCAAAAACACGAGGGTTGTGAAAGGACCTGATTGGACTGAGATACAGGAATAAGCACGGAGGATATCTCTGGGATCTTTTTCCCTAATACACAGTTATAGTTATATCCATATTGGTTTCTTGACTGTTGACTTCAGGAGGTTCTCAACTCAGGCAGGCCCCCAATTTCCAGAGGAGATAACCTTAACCAATGTTTTGGGTGGTGGCGGTGGTGATAGAGAGGGATGGGAAAGGTTTGATCTTATATCTGATTTTCTGTTCTTGGCTGTGGCCCCACCCTGGGGACATCTTTTTTCCCCATGCCGACCTCTTAGCAGTTTCTTCCTGTTGGAGTTGCACATTGGCTGTTTCTAAAATTCTCCAAGCTGTATGGATAAGAGACACAGAGGAAATAGAAAGTAGCATTCCGTGTTTTTAGCTAGATTAAATCGTAGAATGTGTGCCAGCAAAGCTTAAAGTTTCCAGGTTAGCTGAGGGAGGCCATTTGGAAACTTGTGTCTGAACTCCAATAGGAGAGAGAATGTTCAAGCAATGGGTCTTCTGCCCATTTCCCTCTGCTTTGCCATCCCATGGGATAAGGGAACCACCTCAGGTTCCCAATCCCC
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Task1_train_628
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An alteration has been detected in KDF1 (keratinocyte differentiation factor 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
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ACTGTGGTCATGTTAAGATACAGAACATCAGCCAAGAACCAGAACCAACTCCTTAACATAACATAGAGTGGGCCCTGCCCACCCCCCAATACAATACATTTAAGATAAGCTTCTTTTAACTGTTGAATTACCCCAGGGAGGGAGAAGTTTGCATGATTGGTTAGGGTGGCAATAGGGGGATGGAGTCAGGGTTCACTCCCAGAAGGTAATGCCTAACTCCTTACTTTCCATGATCAGGCCACCTGAAGACCATGAGCAGGAAGGAAGGGGCCCTGGCAGGGATCAGACCAGCTGGGGATGCAAGGAGATGTAGATCCCATGGCCCAGTGAAATGCACATGGTCCAGGAACCCAGTCAGCCAAGGCAGGAGGAGCCAGAGTGGGCACTGCTTCAGGTCTAAGCCTCTCCCACAGGGGTTCCTGGTCCCCCTCTTCATTCTGTAGGCCATGCTTCTCCCAGAAAGGGTGTGGCAGCTGGGCCTGGCAGGGGTTAGCAGTACACCTGGAGCAAGGGTGCCCCCGACGAGTCTGTGTCGGTGCCCTGGAAGGATGAGTCATGGCTTGCTGGGTACCCTGGTAGGAAGGAGAGGAGAGGAGGAAACAGGCTCAGGGGAAGGAGCTCATCCAGATCCCATGACCAGGGAGAAGCCTGCTGAGAAGGAGCAGAGTGGGACTTGAGCCTGGGTCAGTCTGATCCTGGCTGGATGACCCACTCAGTTTATTGACCTCTCTGAGCCCTAGCCTCCCTTTCTGTAAAAGGATAATGATTCCACTCCCAGGGGGTTGTTGTCAAGGGCAAGAAGACCGCAACAGAACCACACGGGTGTCTTTCCAGCACCATGCTGGATGGCTCCCCACCCACTACTTTCCTAGTCATCTGGGCTTGAAGGTTGGGGTCTGATCACTTTCAGCTTGCCTGTTCTGGGCACCTGCACCCACTTTAAGCCAGCTTGCTAGATGGAGACAGGTCTGTGGCTGCTTAGGTCCCCGTCCCTTTTTGATGTCATCCTCATCACCCCAAAAGAAAGCTGGGAGAGCAGCAGGTGAGGGGCCCCTAGGGTAGTCCCCCACCCTCCACACCCCTCATTAGGTCAAGACCACACCTGGAGCTCCATAAGGCCTCAGCTTCCGGGCGATGGCATCTGCAGTCGTCTCCTGGGAGATCTGCACTGTCAGCTCTAGGGAGGGAACGTGAGGCAAGCAGTGGTCATTAGCACGTTCTTTCAACCCTATTTCCTACTTCTGTTCCCAGCCCGATGAGGGAGGAGCCACTCACTCCTGGGCAGGGCTAGAAAAATAATGCTTAAAGACAGAGACATAGACAACGTGTGCATGCGCAGAGTGATGGATGAGTGGGAGTTTTGGTTAGCCCAGAACAGGTCAGAGGCCCAAATTCATGTGGGTCCCTAGGTCCTGTTCACCAGACCAGGCCTAGAAGCTACTCTGGCAGGAGACAGCAGAGGAGAGGAGCCTTTTGGGTAAACTTGTTGAATGCAGAGGGAACCTTGACCTTTCTGGGGACAGCAGCGATGGCCAGAGAGCTCTCCCAGGGTCTGCATGCTTCTCTCAGCCTTGCTCGGACCTCACCAGGAAGGGCCAGAGTGGGAGCTGGGGAGAGGGGATGCAAGAGTTGACAGAAAGGAGGAGGAAAGGCAGGGACTGGCTGAGGGGTAGACCCACAGTGACTAAAGACCCCATTCCAACCCTCCCCTGGCCAGAGCCTCCCCTACTCTGCCCCTCAGCCCCATGGGGCCCCCACCTACCATCCTGGCTGAGACCTGAGCCCACCATGGTCTCATGGCCACTGTCAGGGGCAGCAGCGGTTGGGGCAGCAGCCCGAGTTGAACGACCCTCCGAGGTCTGTGGGCGAGCACGGCTCTTTCGGGTACTAATGCGAATGATGCCGCGTACCAGGCGGCCCTCAGCATCCTGCTCATCCAGGTGGTAGTCCTGCGTGATGCTGCTGATAAGGTCCGAGATCTTACTGGTCTTCTCCAGGAACACAGTGTCTGATGTGCACTTGGCCAGCTCATCGATCTGGTGTACGCTGAACAGCTCTGTCAGCTTCTTGAAGATGAGCACATCAATTTCTCGGCTCGACATGGAGCCACTGCCCATCTCCGGCAGGTCCAGGTCCGACTCATGGAAAGAATAGTACTCCTCGGAGCCACGAGGACTACTGGCAAAGGTGCTGGGCAGGCTGTGTCGCATGGGTGGGGGATCGGCCAGTGGCTCCTTGCAGCAGGAGTCCGCATCAGGGGCTGGGGAGGTGGCCCTCGGGTAGGGATACACAGGGATGCCTTTGAGCTTAACATCGGGGTAGCTGAAGCTGCTGCCCATGGTTGACTTGAGCCGCTGGCCATCCCGCCGGCTGGGGGGTGCACGATCAGGGCTGGGGGGCACTCCATTGTGCTCCTTGGCCCAGTTGGCTTCAGCAGTCCCCTCAGTGGAGTCCTCAGTAGACAGGCAGGGGCTGCATCCCCGCACACAGGCTCCACAGCGCTGGAGGCAATCCCGGCAGCGGCGGAAGCAGAAGGCAGCCCGGCACCACTCCCACACCCAGGGTCGCCAGAGCAGGCAGCAGGTGGGGGACTCAAGGGCCGGCTCAGCAGAGCCAGAGATGAAGGTAATGCTCTCTGGCCCATGGTGGCCAGGGTCCTTGGGGTCTGGTCTACGGGTGCGGCGGCTTGGTGGGGGCTGAGGTGGTTTATCATATGTCTCCAGACATAGCTCTGTTGGCCGCTCCCACGGTCCCAAGCGTGGAGGCCCAGATGCTGGGCGGGGGTGTCCAGGGCGGGGCATGGCTCATTGCATGGTTTGTAGCAGCCAGGCACCTGCGTGGGGAGAGGCCAGGAAGGAGTCAGGATCAGAGGTGAGGGACAAACTCCTGGGCTGACTTGAGCAGCTTCACATTTCTAGTTTCTGAGAGGCCTGGGATGTGGATGGACCCAAGTATGCCCAAAAACCCTTGCCTGGGATGTGGATGGACCCAAGTATGCCCAAAAACCCTTATCTCTTGTGGCCCTCCCTCCACAAAGAGAAAGTCTCTGTGGTCTAACCCAGATTTCAAAATTCCCTGTGACTTAGACCTATTGGGATGGCTATGAAAGGTTGAACATTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGACTAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGTATAGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGTGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGCAACAGGGCGAGACTGTGTCTCAAAAAAAAAAAAGAAAGAAAAAGAAAAAAAGAAAGGTTGAACATCTTATCTGAAATGCTTGGGTCCAGAAATGTTTTGGATTCTGAATTGTGGATTGTATACATTATACTTACCTGTTAAGCATTCCTCATCCAAAAATCTGAAATGCTCCAATGAGCATTCCTTTAAGTATCATGCTGGTGCTCAACTTTCAGATTTTGGAGTGTTTTGGATTTTTGGATTAGGGATACTCAATCTCTCAATCTGTATTTAAAAATAATCTCCCTTCTCCCAGAAAATAATGAGTGTTGGCAATAATGTGGAAAAACTGGAACCCTTGTGCATTTCTGGTGGGAATGTAAAATGGTGCAGCTGCTATGGAAAACAGTACGGTGGTTCCTCCAAAAATTAAACATCGAATTACCACACGACCCAGCAATTCCACTTCTGGGTACATACCCAATCTAATTGAGAGCAGGGACTCAGATGTTTAGACAATGTTCACAGCAGCATTATTCACAATAGCCAAAAGGTGGAAACAATCCCAGTGTCTACCAATGGATGAATGACTAAACAAAATGTGGTATATACATACAATGGAATATTACTCAGCCTTAAAAAGGAAAGGAAATTCTTATACATGCTGCAACATGGATGAACCTTGAAGAACTTATGCTAAGTGAAATAAGCCAGACACAAAAGGACAAATAGCC
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ACTGTGGTCATGTTAAGATACAGAACATCAGCCAAGAACCAGAACCAACTCCTTAACATAACATAGAGTGGGCCCTGCCCACCCCCCAATACAATACATTTAAGATAAGCTTCTTTTAACTGTTGAATTACCCCAGGGAGGGAGAAGTTTGCATGATTGGTTAGGGTGGCAATAGGGGGATGGAGTCAGGGTTCACTCCCAGAAGGTAATGCCTAACTCCTTACTTTCCATGATCAGGCCACCTGAAGACCATGAGCAGGAAGGAAGGGGCCCTGGCAGGGATCAGACCAGCTGGGGATGCAAGGAGATGTAGATCCCATGGCCCAGTGAAATGCACATGGTCCAGGAACCCAGTCAGCCAAGGCAGGAGGAGCCAGAGTGGGCACTGCTTCAGGTCTAAGCCTCTCCCACAGGGGTTCCTGGTCCCCCTCTTCATTCTGTAGGCCATGCTTCTCCCAGAAAGGGTGTGGCAGCTGGGCCTGGCAGGGGTTAGCAGTACACCTGGAGCAAGGGTGCCCCCGACGAGTCTGTGTCGGTGCCCTGGAAGGATGAGTCATGGCTTGCTGGGTACCCTGGTAGGAAGGAGAGGAGAGGAGGAAACAGGCTCAGGGGAAGGAGCTCATCCAGATCCCATGACCAGGGAGAAGCCTGCTGAGAAGGAGCAGAGTGGGACTTGAGCCTGGGTCAGTCTGATCCTGGCTGGATGACCCACTCAGTTTATTGACCTCTCTGAGCCCTAGCCTCCCTTTCTGTAAAAGGATAATGATTCCACTCCCAGGGGGTTGTTGTCAAGGGCAAGAAGACCGCAACAGAACCACACGGGTGTCTTTCCAGCACCATGCTGGATGGCTCCCCACCCACTACTTTCCTAGTCATCTGGGCTTGAAGGTTGGGGTCTGATCACTTTCAGCTTGCCTGTTCTGGGCACCTGCACCCACTTTAAGCCAGCTTGCTAGATGGAGACAGGTCTGTGGCTGCTTAGGTCCCCGTCCCTTTTTGATGTCATCCTCATCACCCCAAAAGAAAGCTGGGAGAGCAGCAGGTGAGGGGCCCCTAGGGTAGTCCCCCACCCTCCACACCCCTCATTAGGTCAAGACCACACCTGGAGCTCCATAAGGCCTCAGCTTCCGGGCGATGGCATCTGCAGTCGTCTCCTGGGAGATCTGCACTGTCAGCTCTAGGGAGGGAACGTGAGGCAAGCAGTGGTCATTAGCACGTTCTTTCAACCCTATTTCCTACTTCTGTTCCCAGCCCGATGAGGGAGGAGCCACTCACTCCTGGGCAGGGCTAGAAAAATAATGCTTAAAGACAGAGACATAGACAACGTGTGCATGCGCAGAGTGATGGATGAGTGGGAGTTTTGGTTAGCCCAGAACAGGTCAGAGGCCCAAATTCATGTGGGTCCCTAGGTCCTGTTCACCAGACCAGGCCTAGAAGCTACTCTGGCAGGAGACAGCAGAGGAGAGGAGCCTTTTGGGTAAACTTGTTGAATGCAGAGGGAACCTTGACCTTTCTGGGGACAGCAGCGATGGCCAGAGAGCTCTCCCAGGGTCTGCATGCTTCTCTCAGCCTTGCTCGGACCTCACCAGGAAGGGCCAGAGTGGGAGCTGGGGAGAGGGGATGCAAGAGTTGACAGAAAGGAGGAGGAAAGGCAGGGACTGGCTGAGGGGTAGACCCACAGTGACTAAAGACCCCATTCCAACCCTCCCCTGGCCAGAGCCTCCCCTACTCTGCCCCTCAGCCCCATGGGGCCCCCACCTACCATCCTGGCTGAGACCTGAGCCCACCATGGTCTCATGGCCACTGTCAGGGGCAGCAGCGGTTGGGGCAGCAGCCCGAGTTGAACGACCCTCCGAGGTCTGTGGGCGAGCACGGCTCTTTCGGGTACTAATGCGAATGATGCCGCGTACCAGGCGGCCCTCAGCATCCTGCTCATCCAGGTGGTAGTCCTGCGTGATGCTGCTGATAAGGTCCGAGATCTTACTGGTCTTCTCCAGGAACACAGTGTCTGATGTGCACTTGGCCAGCTCATCGATCTGGTGTACGCTTAACAGCTCTGTCAGCTTCTTGAAGATGAGCACATCAATTTCTCGGCTCGACATGGAGCCACTGCCCATCTCCGGCAGGTCCAGGTCCGACTCATGGAAAGAATAGTACTCCTCGGAGCCACGAGGACTACTGGCAAAGGTGCTGGGCAGGCTGTGTCGCATGGGTGGGGGATCGGCCAGTGGCTCCTTGCAGCAGGAGTCCGCATCAGGGGCTGGGGAGGTGGCCCTCGGGTAGGGATACACAGGGATGCCTTTGAGCTTAACATCGGGGTAGCTGAAGCTGCTGCCCATGGTTGACTTGAGCCGCTGGCCATCCCGCCGGCTGGGGGGTGCACGATCAGGGCTGGGGGGCACTCCATTGTGCTCCTTGGCCCAGTTGGCTTCAGCAGTCCCCTCAGTGGAGTCCTCAGTAGACAGGCAGGGGCTGCATCCCCGCACACAGGCTCCACAGCGCTGGAGGCAATCCCGGCAGCGGCGGAAGCAGAAGGCAGCCCGGCACCACTCCCACACCCAGGGTCGCCAGAGCAGGCAGCAGGTGGGGGACTCAAGGGCCGGCTCAGCAGAGCCAGAGATGAAGGTAATGCTCTCTGGCCCATGGTGGCCAGGGTCCTTGGGGTCTGGTCTACGGGTGCGGCGGCTTGGTGGGGGCTGAGGTGGTTTATCATATGTCTCCAGACATAGCTCTGTTGGCCGCTCCCACGGTCCCAAGCGTGGAGGCCCAGATGCTGGGCGGGGGTGTCCAGGGCGGGGCATGGCTCATTGCATGGTTTGTAGCAGCCAGGCACCTGCGTGGGGAGAGGCCAGGAAGGAGTCAGGATCAGAGGTGAGGGACAAACTCCTGGGCTGACTTGAGCAGCTTCACATTTCTAGTTTCTGAGAGGCCTGGGATGTGGATGGACCCAAGTATGCCCAAAAACCCTTGCCTGGGATGTGGATGGACCCAAGTATGCCCAAAAACCCTTATCTCTTGTGGCCCTCCCTCCACAAAGAGAAAGTCTCTGTGGTCTAACCCAGATTTCAAAATTCCCTGTGACTTAGACCTATTGGGATGGCTATGAAAGGTTGAACATTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGACTAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGTATAGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGTGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGCAACAGGGCGAGACTGTGTCTCAAAAAAAAAAAAGAAAGAAAAAGAAAAAAAGAAAGGTTGAACATCTTATCTGAAATGCTTGGGTCCAGAAATGTTTTGGATTCTGAATTGTGGATTGTATACATTATACTTACCTGTTAAGCATTCCTCATCCAAAAATCTGAAATGCTCCAATGAGCATTCCTTTAAGTATCATGCTGGTGCTCAACTTTCAGATTTTGGAGTGTTTTGGATTTTTGGATTAGGGATACTCAATCTCTCAATCTGTATTTAAAAATAATCTCCCTTCTCCCAGAAAATAATGAGTGTTGGCAATAATGTGGAAAAACTGGAACCCTTGTGCATTTCTGGTGGGAATGTAAAATGGTGCAGCTGCTATGGAAAACAGTACGGTGGTTCCTCCAAAAATTAAACATCGAATTACCACACGACCCAGCAATTCCACTTCTGGGTACATACCCAATCTAATTGAGAGCAGGGACTCAGATGTTTAGACAATGTTCACAGCAGCATTATTCACAATAGCCAAAAGGTGGAAACAATCCCAGTGTCTACCAATGGATGAATGACTAAACAAAATGTGGTATATACATACAATGGAATATTACTCAGCCTTAAAAAGGAAAGGAAATTCTTATACATGCTGCAACATGGATGAACCTTGAAGAACTTATGCTAAGTGAAATAAGCCAGACACAAAAGGACAAATAGCC
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Task1_train_629
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Given this context: Chromosome 1, gene SLC9A1 (solute carrier family 9 member A1) — 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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CCCAGCCCTGGCCCTCACCCAGCACGCGGGCGATGAGGCAGAAGAGCAGGGTGCTGATGACGAAGGTCCAGTTCCAGTGGTGGGAGCCGGCCACCGTGGAGACGCCGAGGAAGATGAAGATGAGGGTCTCGCTGACGCTGCTCCACATCTTCAGGAAGTATTTGATGGTGGTGTGGGACTTGTGGGAGATGTTGGCCTCCACATAGGGGCGCATCACCACTCCTGAGGCTATGAGCCTGGAGCAGGAAAGAGCGGGGTCAGGGCTCCGTGTCGAGCTGCACCTGCTCGAGCCCCTCCACTGCCAGGGGCAATGGGGCCACGACCAAGGTGCCCATGTCCCAAGCTCCTCTATGGGCCAGGGGCCCGCTGTGTGCTTTACACCCTCTTGCCACTCATCCTCACATCAACCCTATAGACACGGTGTATTCCTCCATTTTTTTTTTTTTTTTTTTTTTTGAGACGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTGGCTGGGAATACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTAATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGACGAGCGCATGCCCGGCCCTATTCCTCCATTTTTAAAATGAGTGATCTTGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGACAAAGGCGGATCACTTGAGGCCAGGTATTCGAGACCAGCTTGGCCAATGTAGTGAAATGCAGTCTCTTCTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCACCTAATTGAGAGGTTGAAGTGGGAGAATCTCGAACTCAGAGGCTGCAATGAGCTGAGATCGTGCCACTGCATTCCAGCCTGGGTGACAAGAGTGGGACCCCGTCTCAAATAAAAAAATGAGAGATCTGACTCTAAGAGAAATAGTCACCTCTCCCCTGTCACGCTGCCTGCAGGCAGCAAAGCCAAGACACACAAACCACAGTGTCCAACTCCAAAGCCTGCACCTTTGCCCCAAGGCCACACTGCCTCTTGACCCAATAGGAGTCAATGACACAGACCCATGGTCTCCTGGGTTCATTCCCCTCAAGCGTGGCATCTGCCATTACACAGGGGTCTCCACAGGGAGCTTTGTTCCAAGCAGCTGCTTGGAGCTCGGAGTCCTCCCAGCCCAGTGCTCACACCCGGGCTCTGCTCCTGGGAGCCAGGGGCTCTGAACCCCAGTTCTGCCTTGCTCGGCACTGGAACACCTTCACCCCTCACTGCCTCCCCACATCCCATTCTCCCCATTTCCAGACCCGGTGGAGACCTCAGGACCGCCAGGACTCAGGCCTGGTGAGCCTCCTACTGGGGCTGCTGAGGGGACTCCCTTTGAGACAATGAAGTAGCAGGGCTGTGGCTTTCCTCAACCTGAAGCTTAGTGGCTTCCAAGGCTCTGCTCTCCTATACCCTGGGCTTGCCTTCATGCAGGTCATTCTTGCTTCATCTGCTCATAGCCTGAAATGCCCTCTCCCGATTCCTGGACCCCAGGGGGCGCTGCAGAAGTGCTCCTCTTCTAGGAAGCCACTGATGCCCTTGGCCATTTAAATGGCTACCAAGCAGGTCTGGAGCCTGGAGTTCATGTCTCATCCCTGGAGCTCAAGGCTGGGCCCTGGGAGCTCCGTGAACCTACGAGCCTGGGGAATCCAAGCTGGCAGCCCCCGCCCCCACCCCGCCAAGCCCACTGCCTGCTGCACGCAGACTCACGCCATGATGCCTGACAGGTGGAAGAGCTCGGCTGACAAGTAGGCCATGTAGCTGTAGAGGAAGACGAAGAGCGGCTCGATGACCCGGATGTGGGAGGTAAATCGGGAGGTGAAGGCTGCGATGACCCCGTAGACCACGCCCACAAGCACCCCGCCCAGGGCCACCACGAAGAAGCTCAGGAAGCCGAGGAAGATGTCCACGATGCCCACGTGTTCGTAGTTGGCAAACTCCTCAAAGAGGTGATACAGGACCTGGGGAGGGTGTGCAGGCTGGTGGGTGGGAGGAGAGGGCCCTGGCCCCACGGTTCCCTGGGGTCCACCCAGGGCAATCCTGTCCCCTCCGTTAACCATGGCCACAAGAAGAGGCCACACGGTAGCAGAGAAACCCTAGTGCCAAGCAGGTGCTCAAAACCTCAGCCTGGGGCTGAGGGGCTTGCTCTGGGCCAGCCACGTGCCCCACTGGTGAAGGGTGGGCCCTGGGAAGCTCTGTGAAGACCCTGAAGCCAAACTGCCTGGACTGGAATCCTGGCTCTGCCACTCCTGAGTTGTGTACAGGAAGCAAATTCATCTCCCTGTGTTTCAGTTTTCCTGTCTATAAAATGAGGATAATAATACCAAATCTTAGGACTGCTGTGAGGACTAAATCAGCGAATCAAGTGCTCGGAGCCTTACCTGATGCAGTGTTAGCCACATCTGGTGCTATCAAGTCTGCCTCTCACTGCCTGACCTTGGGCACGTCATGCCCATCACTGGGTTTCAGTCCCTCCTTCAGCACAAAAAAGGGACGTTCACACAATGAACTAGAATGTCATTTCTTAACCTCTGGAGCTTTCTGAAAATACACATGTTCAGGCCATACTGGACTTGGACTCTCTGGGATAGGGCCAAGAAATCTCTATGTAACAAGCACCCCAGGGGTTGCAATGAACAGCCAAGTTCAGATGCTATGGAATTAGAGGCTAAGGCATCCCTGTCTCCTGGACTGGGAAATAGATGGTCATTGCAACACTACCATCAGATGTTTAAGTGGCACTTCATACACTGTAAAGCCCTTTGATAGTCTTTATCTGAGTCGACACTCAACAACCATGCGAGGCAGGTGGGTCAAGGATGCTCCTTTGCTAAACCGAGGCTCACAGTGGTAAAACAACACGCCAGGGGGCCCCCAGCCCAGGAGCAGAAGAACTGGGCCCAGAACTTATTCCCTGACAGCCATGGCTGAGGCCTCCCCAGCAGGCTCAGCTTTGAGGATCTGCCCCTCCTATTGCTAGGTCCCTGAGCTGCCTGGCCTACTCAAGTCTGTCCTAGACAGCTCTGCCAGGAAGGAGCAGGGAGTTTCCAGGCCTGGGGGAAGGGAGGGAAGGACGTGAGGATCCATGACAGGGAACCCTCCAAAGCCCCCAGGACCTGGAGCAGGAGGAATGGACCGTGAGGAGTGACCTGTCTAGGGCACAGACCTGAGACCAGGCAGCTCAGGGTCAGCCTCTGGCTTTACTCTCTGGGAAATGGGGCACTCACACCTATGCCAAGAGCTCCAGAAAGACCTGACTTGGGCCAGGCAGCAAGGGGAGATGCAGAGCACTGGCCAGGCCTGGTGCGGCCTGGCCCCAGCTGTCTGGGGGATAGGACAGGGCTCCAGCGGCAGACAGCCTCTTAGCAGGTGCGTACTCAGCCGTGGGCTAAACTCATTCCTGGCCTGAGGGGATTCATGGGTCCTCATGGTCTACCACATGGGCCCATGGAGTCGGCACAGAGGGGAAAGTCCTCCTTTCTGGCCTGGTGCTATTACCCCTGGAACTATAGAGAAACAGAGTAACACAGTGGTAAGCACTTGGGCTTTGGACTCAGACTACGGATTTGAACCTCAGCTATATCATATATCAGGCTTATGTAACCTCTCCGTTCCTCAGTTTCCTCATCGCAAAAAAACTGGAATATAACTGTGTCAACCTCATGGAGTTACTGTATAGATTAAATGAGGCAACATAGGCCAGACACAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAAGAGGGAGCATCGCTTGTGCCCGGGAGCTTGAGACCAGCCCAGGCAACATAATGAGACCCCATATCTACAAAATAAATAAATAAATAAATAAATAAATTAGCTGGGTGTGATGGCCAGCACCTGCAGTCCCAGCTACTTGGGAGGCTAAGAGGGGATGATCA
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CCCAGCCCTGGCCCTCACCCAGCACGCGGGCGATGAGGCAGAAGAGCAGGGTGCTGATGACGAAGGTCCAGTTCCAGTGGTGGGAGCCGGCCACCGTGGAGACGCCGAGGAAGATGAAGATGAGGGTCTCGCTGACGCTGCTCCACATCTTCAGGAAGTATTTGATGGTGGTGTGGGACTTGTGGGAGATGTTGGCCTCCACATAGGGGCGCATCACCACTCCTGAGGCTATGAGCCTGGAGCAGGAAAGAGCGGGGTCAGGGCTCCGTGTCGAGCTGCACCTGCTCGAGCCCCTCCACTGCCAGGGGCAATGGGGCCACGACCAAGGTGCCCATGTCCCAAGCTCCTCTATGGGCCAGGGGCCCGCTGTGTGCTTTACACCCTCTTGCCACTCATCCTCACATCAACCCTATAGACACGGTGTATTCCTCCATTTTTTTTTTTTTTTTTTTTTTTGAGACGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTGGCTGGGAATACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTAATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGACGAGCGCATGCCCGGCCCTATTCCTCCATTTTTAAAATGAGTGATCTTGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGACAAAGGCGGATCACTTGAGGCCAGGTATTCGAGACCAGCTTGGCCAATGTAGTGAAATGCAGTCTCTTCTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCACCTAATTGAGAGGTTGAAGTGGGAGAATCTCGAACTCAGAGGCTGCAATGAGCTGAGATCGTGCCACTGCATTCCAGCCTGGGTGACAAGAGTGGGACCCCGTCTCAAATAAAAAAATGAGAGATCTGACTCTAAGAGAAATAGTCACCTCTCCCCTGTCACGCTGCCTGCAGGCAGCAAAGCCAAGACACACAAACCACAGTGTCCAACTCCAAAGCCTGCACCTTTGCCCCAAGGCCACACTGCCTCTTGACCCAATAGGAGTCAATGACACAGACCCATGGTCTCCTGGGTTCATTCCCCTCAAGCGTGGCATCTGCCATTACACAGGGGTCTCCACAGGGAGCTTTGTTCCAAGCAGCTGCTTGGAGCTCGGAGTCCTCCCAGCCCAGTGCTCACACCCGGGCTCTGCTCCTGGGAGCCAGGGGCTCTGAACCCCAGTTCTGCCTTGCTCGGCACTGGAACACCTTCACCCCTCACTGCCTCCCCACATCCCATTCTCCCCATTTCCAGACCCGGTGGAGACCTCAGGACCGCCAGGACTCAGGCCTGGTGAGCCTCCTACTGGGGCTGCTGAGGGGACTCCCTTTGAGACAATGAAGTAGCAGGGCTGTGGCTTTCCTCAACCTGAAGCTTAGTGGCTTCCAAGGCTCTGCTCTCCTATACCCTGGGCTTGCCTTCATGCAGGTCATTCTTGCTTCATCTGCTCATAGCCTGAAATGCCCTCTCCCGATTCCTGGACCCCAGGGGGCGCTGCAGAAGTGCTCCTCTTCTAGGAAGCCACTGATGCCCTTGGCCATTTAAATGGCTACCAAGCAGGTCTGGAGCCTGGAGTTCATGTCTCATCCCTGGAGCTCAAGGCTGGGCCCTGGGAGCTCCGTGAACCTACGAGCCTGGGGAATCCAAGCTGGCAGCCCCCGCCCCCACCCCGCCAAGCCCACTGCCTGCTGCACGCAGACTCACGCCATGATGCCTGACAGGTGGAAGAGCTCGGCTGACAAGTAGGCCATGTAGCTGTAGAGGAAGACGAAGAGCGGCTCGATGACCCGGATGTGGGAGGTAAATCGGGAGGTGAAGGCTGCGATGACCCCGTAGACCACGCCCACAAGCACCCTGCCCAGGGCCACCACGAAGAAGCTCAGGAAGCCGAGGAAGATGTCCACGATGCCCACGTGTTCGTAGTTGGCAAACTCCTCAAAGAGGTGATACAGGACCTGGGGAGGGTGTGCAGGCTGGTGGGTGGGAGGAGAGGGCCCTGGCCCCACGGTTCCCTGGGGTCCACCCAGGGCAATCCTGTCCCCTCCGTTAACCATGGCCACAAGAAGAGGCCACACGGTAGCAGAGAAACCCTAGTGCCAAGCAGGTGCTCAAAACCTCAGCCTGGGGCTGAGGGGCTTGCTCTGGGCCAGCCACGTGCCCCACTGGTGAAGGGTGGGCCCTGGGAAGCTCTGTGAAGACCCTGAAGCCAAACTGCCTGGACTGGAATCCTGGCTCTGCCACTCCTGAGTTGTGTACAGGAAGCAAATTCATCTCCCTGTGTTTCAGTTTTCCTGTCTATAAAATGAGGATAATAATACCAAATCTTAGGACTGCTGTGAGGACTAAATCAGCGAATCAAGTGCTCGGAGCCTTACCTGATGCAGTGTTAGCCACATCTGGTGCTATCAAGTCTGCCTCTCACTGCCTGACCTTGGGCACGTCATGCCCATCACTGGGTTTCAGTCCCTCCTTCAGCACAAAAAAGGGACGTTCACACAATGAACTAGAATGTCATTTCTTAACCTCTGGAGCTTTCTGAAAATACACATGTTCAGGCCATACTGGACTTGGACTCTCTGGGATAGGGCCAAGAAATCTCTATGTAACAAGCACCCCAGGGGTTGCAATGAACAGCCAAGTTCAGATGCTATGGAATTAGAGGCTAAGGCATCCCTGTCTCCTGGACTGGGAAATAGATGGTCATTGCAACACTACCATCAGATGTTTAAGTGGCACTTCATACACTGTAAAGCCCTTTGATAGTCTTTATCTGAGTCGACACTCAACAACCATGCGAGGCAGGTGGGTCAAGGATGCTCCTTTGCTAAACCGAGGCTCACAGTGGTAAAACAACACGCCAGGGGGCCCCCAGCCCAGGAGCAGAAGAACTGGGCCCAGAACTTATTCCCTGACAGCCATGGCTGAGGCCTCCCCAGCAGGCTCAGCTTTGAGGATCTGCCCCTCCTATTGCTAGGTCCCTGAGCTGCCTGGCCTACTCAAGTCTGTCCTAGACAGCTCTGCCAGGAAGGAGCAGGGAGTTTCCAGGCCTGGGGGAAGGGAGGGAAGGACGTGAGGATCCATGACAGGGAACCCTCCAAAGCCCCCAGGACCTGGAGCAGGAGGAATGGACCGTGAGGAGTGACCTGTCTAGGGCACAGACCTGAGACCAGGCAGCTCAGGGTCAGCCTCTGGCTTTACTCTCTGGGAAATGGGGCACTCACACCTATGCCAAGAGCTCCAGAAAGACCTGACTTGGGCCAGGCAGCAAGGGGAGATGCAGAGCACTGGCCAGGCCTGGTGCGGCCTGGCCCCAGCTGTCTGGGGGATAGGACAGGGCTCCAGCGGCAGACAGCCTCTTAGCAGGTGCGTACTCAGCCGTGGGCTAAACTCATTCCTGGCCTGAGGGGATTCATGGGTCCTCATGGTCTACCACATGGGCCCATGGAGTCGGCACAGAGGGGAAAGTCCTCCTTTCTGGCCTGGTGCTATTACCCCTGGAACTATAGAGAAACAGAGTAACACAGTGGTAAGCACTTGGGCTTTGGACTCAGACTACGGATTTGAACCTCAGCTATATCATATATCAGGCTTATGTAACCTCTCCGTTCCTCAGTTTCCTCATCGCAAAAAAACTGGAATATAACTGTGTCAACCTCATGGAGTTACTGTATAGATTAAATGAGGCAACATAGGCCAGACACAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAAGAGGGAGCATCGCTTGTGCCCGGGAGCTTGAGACCAGCCCAGGCAACATAATGAGACCCCATATCTACAAAATAAATAAATAAATAAATAAATAAATTAGCTGGGTGTGATGGCCAGCACCTGCAGTCCCAGCTACTTGGGAGGCTAAGAGGGGATGATCA
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Task1_train_630
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This variant affects the gene TMEM222 (transmembrane protein 222) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
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GTACCACTTTCTTGCTCTGCAGTGTTGTTTTCTGCCTGTTGATGTTGTGTCCTTTCACAGGTCAAGGTTAAAAGTCACCTCCTCTGTGAAGTCTTTACTGGCTCCACCCCAGCCCCCTGTAACTGCTTTTTTAAACTGCGTCTCTGGAGGCTTGGCCTGCACCCCTAGCCAGGTGCTTTATGCTCGTGCCCAGGCAGCATTGAGGCCAGGACTCGGCCACTGGCCCTGTGAGTTCTCCTTAAACTGGATCAGTCTCTCCAGCACCCAGGTCCTGTAGGGCCATGGTTCTCAGAACACAGACAGGTCTGGGGTTCCTATGTGTGACATATTGGGGTGCATCTGAGATTTATTGTTGTTTTTTAATGCCCATGGTTTATAAAAAAGGAACTTTTATTTCCTGGCATACACCATGCTTCTGTTCCAATTTCTACCCTTGCACATTCTGTTTCTTTGTTATTTCCTCAGGGAAGCCTTTCCTGAACTCCCCCACCCATACTGGTGTCATGACCGCCCACCTTTTTTTTTTTTTTTAACTTTCTTATTGAGGTATAACTTATGTACCAAACGGTGTGCGAATCTCAAGTATACAGCAGGAAGAATTTTTGCATATCACACACTCATGTAACCGCCACCCAGACGGGGGCTAGAAAGCAATGCTAAGACCCAGAGGACCCCCTTGTGCCCTCCCAGTCAGTTCTACCACAGATTCCACCCCGCTGTGGACCTCTAGCCATAGATCAGTCTTGCCTTTTCTTGGACTTCACGTAAACAGAGTGCTATGTTACGTACTCTGTGTAAGATTTCCTTCATTCACCCTTATGTCTGTGAAAGCCTGTGTTGTGTGTAGCAGAAGTGACACTGTTTTTCATTGTTATGGACTATTTCAATGTATAACTATACCACACTTATTCATCGTACTGTTGTTGAACATTTGGATTCTTTCTAGTTGTTTTTATCAATTTTATTGAATTATAGTTTACATATAATAAAATGTACACATTTTAAGAGTACAGTTCAATGAGTTTTGGCAAATGTTATTTCCCAGGGGTGAGGGCAAAGAAGGTTCCAAAAGTGAAACTGCTGAGGCATTTAGTATAGTGCCAAACTGTTTTCCAGAATGGTAGAAACAGGCCGGGTACGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGATGAAACCTCATGTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACCGCACTTCAGCCAGGGCAAGAGAGCGAGACTCCATCTCAAAAACAAAATGGTAGGCCGGGTGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCACGTGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTACCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCAATATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATTTGAAAAAAAAAAAAAGGTAGAAACAGTTTATCCCTCCCACCAGCAGTGAATGAGAGCTCTGGTTGTCCCTTGCCCTCACCTGCATTGGTGTTGCTGTCGTTTGAGTTACAGCCATCCTGGCGGGATGCTGAGGTATCCCATTGTGCTGTCGGTTTGCAGTTACCCTTGTCTGTGCTTCCCCAGCCTTCTGGACCACCCTAATGGCCACCTGTCAATGAAACGTAATATTCACATGCTTCTGTACTGTATGAAGGGTCCCCAGCGTCCGTCTAACTGGCTGAAAGATCCCCTAAGCTCTGTCCCTTCCCCGTCCTTTTCCTCACAGGTGGTTTTTCCCCATCATCGGCCACATGGGCATCTGCACATCCACAGGAGTCATTCGGGACTTCGCGGGCCCCTACTTTGTCTCAGTGAGTCCCCATTCTGCCCACCCGGGGGGTTCCAAGGTTTAAGTGGAAGGCTGTCCTGTCTTGCCTGCAGGCAGGCTTCGTCTCCCCAGACCCAGGAGAACGTAGATAACCCGCAGTCCTGGCCCTGGCCCTCTGCCCCTCACCAGTGTTTGACCCCTTTCCCCCTTCTCTTGCCTCCAGGACAGGCCGGGAGGGCAGTGTGGCCAGAAGGATTCTTAAGTAACTGACCCAGCCCTTTGCCCCCACCCCTGGGGTACCGAGACATGGGTAGGGATTAGAGGCAAGAGTGGAGAGTCAGACCATCCAGGAACCACATCTCTGGACCTTCAGAAGGTGGGAGTCAAGGTGGGGGGACACGGGAGGCTGATTCGGTTCCCTGGGTGTGGCCATGGAGAAGAGGGGGTGGGGCTTTAGAATGAAGCAGCTGTGTTCTCAGGTCTGTTCCCTGGGGCTGTGACCAAGACTGGTCCAGTGGGCTAGCAGCAGAGGAGCATGCATCATCCTGTCTCCAGGTGTCAGAGGCTGGACTGAAGGGGTGTGGTGGCACCAACCTGTTTATATTAATAGTTGTCATGATCATCTTAACACGACAAAGGTCTGTCACTTTGTACTTAAAAATACTTTCACATCCATTACTTTATCATATATTTTTATGGTGATTAATCATTGACCAGGTCTGTCAGCAGGGTCTCCCTGATCTGAACCCAGAGTCTGTCTCTGTGTAAGTCCTGTACCCCAGGAATAATGTGATGAGTCTAGGACTTCACTGCAGTGTCTCCCTCACAGGAAGTCCCTCTGGGCCCAGCGCCCCCGCCCTGCTATGAATGCAGTCAGACTGCTGGGCGAGGAGATGGTCTCCATGTGGGCCACCACTGTTGAGTCAGGAGGCCAGACCATGATGGAAACCTCCTGCTGGTCCTCAGAGATCAGAGAAGACTGACCAGAGAACTTGGAGAAAATGAGGCCCAGAGAGGGCAAGAGAATTCCTGGGTGCCACACCAAGGGACAGTGGCAGCTGGAGCCCCAGATCTTTGGTCTCTGATGCAGTGCTCTGTGCACTTGTGCCACACTGCCTTCTTCCTGCAGAACAGCTGCTAGCTCTTTAGATGCCATGCCAGCCCCAGGGCAGGGCCCAGGCCCCACTTCTGGCCCCCCCACCCCTGACATACCCTCTTCTAAGTCACTGCACTTCTGCCACCTACCCAGGTTTGTCATCTGGCCCAAATGTAAGTTCCTCACTGACCTCTGCTTTTGTCCCTCAACAGGAGGACAACATGGCCTTTGGAAAGCCTGCCAAGTAAGTGATGAACACCCATGTGACTGGCTCTAGAGGCAGGTCGCTCCTGCCGGGGCGGGCCAGGCCTTCTGGGGCACAGGAGGGGCCAGCACCCTGAGAATAGAGTATTTGGGGTCGGGGGAGAGGTCAGCCAGGGTCCACCAGAGCATGGCAACCCCATACAGAGTGTGTACCGCACCAGCCCCTGGCTAGGGCCTTTACCTGTAGACCATCTGGGCCTTGCCACAGCTCTTCAGGTTTGTATTTTCAACTCCATGGCAAGGGTGAGGAAAGGGAAGGGACTTGGTCAAGGTCACACAGGAAGTGGCAGAGCTGGGACCCACACCCAGATCTGTCTCCCTCTAGACTCACTCTCCTGCCCTTTGGGAACAAATGAGGCATGGAAGGTAGAAGAGAGGCATTGTTTGGAGCTCTGCTGGAAAGTTCTGGTTGGAGAGAATAAAAACCGTTCAACCTTCTGGGAGCTATTGCTGGTTTGGTTTGGGACATTTGGTCTTCATCTTTGCAGTCTCGGGTGCCCACCTCAGCTGTGGGCCTGGTGAGAGTGCCTCAGTCATCAGTGTCCTCAGGTGACCTGTTGCCCAAGGCTGCACTGGGAGGAGAGACTGGGCCGAGGAGGAGTTGGTGTCCCACACAGCTGAGATGGCCTGGAGCAGGGCTTCCTGCTGCCCTCTCTGGCTTCCTC
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GTACCACTTTCTTGCTCTGCAGTGTTGTTTTCTGCCTGTTGATGTTGTGTCCTTTCACAGGTCAAGGTTAAAAGTCACCTCCTCTGTGAAGTCTTTACTGGCTCCACCCCAGCCCCCTGTAACTGCTTTTTTAAACTGCGTCTCTGGAGGCTTGGCCTGCACCCCTAGCCAGGTGCTTTATGCTCGTGCCCAGGCAGCATTGAGGCCAGGACTCGGCCACTGGCCCTGTGAGTTCTCCTTAAACTGGATCAGTCTCTCCAGCACCCAGGTCCTGTAGGGCCATGGTTCTCAGAACACAGACAGGTCTGGGGTTCCTATGTGTGACATATTGGGGTGCATCTGAGATTTATTGTTGTTTTTTAATGCCCATGGTTTATAAAAAAGGAACTTTTATTTCCTGGCATACACCATGCTTCTGTTCCAATTTCTACCCTTGCACATTCTGTTTCTTTGTTATTTCCTCAGGGAAGCCTTTCCTGAACTCCCCCACCCATACTGGTGTCATGACCGCCCACCTTTTTTTTTTTTTTTAACTTTCTTATTGAGGTATAACTTATGTACCAAACGGTGTGCGAATCTCAAGTATACAGCAGGAAGAATTTTTGCATATCACACACTCATGTAACCGCCACCCAGACGGGGGCTAGAAAGCAATGCTAAGACCCAGAGGACCCCCTTGTGCCCTCCCAGTCAGTTCTACCACAGATTCCACCCCGCTGTGGACCTCTAGCCATAGATCAGTCTTGCCTTTTCTTGGACTTCACGTAAACAGAGTGCTATGTTACGTACTCTGTGTAAGATTTCCTTCATTCACCCTTATGTCTGTGAAAGCCTGTGTTGTGTGTAGCAGAAGTGACACTGTTTTTCATTGTTATGGACTATTTCAATGTATAACTATACCACACTTATTCATCGTACTGTTGTTGAACATTTGGATTCTTTCTAGTTGTTTTTATCAATTTTATTGAATTATAGTTTACATATAATAAAATGTACACATTTTAAGAGTACAGTTCAATGAGTTTTGGCAAATGTTATTTCCCAGGGGTGAGGGCAAAGAAGGTTCCAAAAGTGAAACTGCTGAGGCATTTAGTATAGTGCCAAACTGTTTTCCAGAATGGTAGAAACAGGCCGGGTACGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGATGAAACCTCATGTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACCGCACTTCAGCCAGGGCAAGAGAGCGAGACTCCATCTCAAAAACAAAATGGTAGGCCGGGTGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCACGTGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTACCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCAATATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATTTGAAAAAAAAAAAAAGGTAGAAACAGTTTATCCCTCCCACCAGCAGTGAATGAGAGCTCTGGTTGTCCCTTGCCCTCACCTGCATTGGTGTTGCTGTCGTTTGAGTTACAGCCATCCTGGCGGGATGCTGAGGTATCCCATTGTGCTGTCGGTTTGCAGTTACCCTTGTCTGTGCTTCCCCAGCCTTCTGGACCACCCTAATGGCCACCTGTCAATGAAACGTAATATTCACATGCTTCTGTACTGTATGAAGGGTCCCCAGCGTCCGTCTAACTGGCTGAAAGATCCCCTAAGCTCTGTCCCTTCCCCGTCCTTTTCCTCACAGGTGGTTTTTCCCCATCATCAGCCACATGGGCATCTGCACATCCACAGGAGTCATTCGGGACTTCGCGGGCCCCTACTTTGTCTCAGTGAGTCCCCATTCTGCCCACCCGGGGGGTTCCAAGGTTTAAGTGGAAGGCTGTCCTGTCTTGCCTGCAGGCAGGCTTCGTCTCCCCAGACCCAGGAGAACGTAGATAACCCGCAGTCCTGGCCCTGGCCCTCTGCCCCTCACCAGTGTTTGACCCCTTTCCCCCTTCTCTTGCCTCCAGGACAGGCCGGGAGGGCAGTGTGGCCAGAAGGATTCTTAAGTAACTGACCCAGCCCTTTGCCCCCACCCCTGGGGTACCGAGACATGGGTAGGGATTAGAGGCAAGAGTGGAGAGTCAGACCATCCAGGAACCACATCTCTGGACCTTCAGAAGGTGGGAGTCAAGGTGGGGGGACACGGGAGGCTGATTCGGTTCCCTGGGTGTGGCCATGGAGAAGAGGGGGTGGGGCTTTAGAATGAAGCAGCTGTGTTCTCAGGTCTGTTCCCTGGGGCTGTGACCAAGACTGGTCCAGTGGGCTAGCAGCAGAGGAGCATGCATCATCCTGTCTCCAGGTGTCAGAGGCTGGACTGAAGGGGTGTGGTGGCACCAACCTGTTTATATTAATAGTTGTCATGATCATCTTAACACGACAAAGGTCTGTCACTTTGTACTTAAAAATACTTTCACATCCATTACTTTATCATATATTTTTATGGTGATTAATCATTGACCAGGTCTGTCAGCAGGGTCTCCCTGATCTGAACCCAGAGTCTGTCTCTGTGTAAGTCCTGTACCCCAGGAATAATGTGATGAGTCTAGGACTTCACTGCAGTGTCTCCCTCACAGGAAGTCCCTCTGGGCCCAGCGCCCCCGCCCTGCTATGAATGCAGTCAGACTGCTGGGCGAGGAGATGGTCTCCATGTGGGCCACCACTGTTGAGTCAGGAGGCCAGACCATGATGGAAACCTCCTGCTGGTCCTCAGAGATCAGAGAAGACTGACCAGAGAACTTGGAGAAAATGAGGCCCAGAGAGGGCAAGAGAATTCCTGGGTGCCACACCAAGGGACAGTGGCAGCTGGAGCCCCAGATCTTTGGTCTCTGATGCAGTGCTCTGTGCACTTGTGCCACACTGCCTTCTTCCTGCAGAACAGCTGCTAGCTCTTTAGATGCCATGCCAGCCCCAGGGCAGGGCCCAGGCCCCACTTCTGGCCCCCCCACCCCTGACATACCCTCTTCTAAGTCACTGCACTTCTGCCACCTACCCAGGTTTGTCATCTGGCCCAAATGTAAGTTCCTCACTGACCTCTGCTTTTGTCCCTCAACAGGAGGACAACATGGCCTTTGGAAAGCCTGCCAAGTAAGTGATGAACACCCATGTGACTGGCTCTAGAGGCAGGTCGCTCCTGCCGGGGCGGGCCAGGCCTTCTGGGGCACAGGAGGGGCCAGCACCCTGAGAATAGAGTATTTGGGGTCGGGGGAGAGGTCAGCCAGGGTCCACCAGAGCATGGCAACCCCATACAGAGTGTGTACCGCACCAGCCCCTGGCTAGGGCCTTTACCTGTAGACCATCTGGGCCTTGCCACAGCTCTTCAGGTTTGTATTTTCAACTCCATGGCAAGGGTGAGGAAAGGGAAGGGACTTGGTCAAGGTCACACAGGAAGTGGCAGAGCTGGGACCCACACCCAGATCTGTCTCCCTCTAGACTCACTCTCCTGCCCTTTGGGAACAAATGAGGCATGGAAGGTAGAAGAGAGGCATTGTTTGGAGCTCTGCTGGAAAGTTCTGGTTGGAGAGAATAAAAACCGTTCAACCTTCTGGGAGCTATTGCTGGTTTGGTTTGGGACATTTGGTCTTCATCTTTGCAGTCTCGGGTGCCCACCTCAGCTGTGGGCCTGGTGAGAGTGCCTCAGTCATCAGTGTCCTCAGGTGACCTGTTGCCCAAGGCTGCACTGGGAGGAGAGACTGGGCCGAGGAGGAGTTGGTGTCCCACACAGCTGAGATGGCCTGGAGCAGGGCTTCCTGCTGCCCTCTCTGGCTTCCTC
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Task1_train_631
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This genomic variant is located on Chromosome 1, within the EPB41 (erythrocyte membrane protein band 4.1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Elliptocytosis 1
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GCCTGTAAATCCAGCACTCTGGGAGACTGAGGCAGGAGGATCACTAGAGCCCCGGAGTTCGAGACCAACCTGGGCAACATGGAGAAACACCATCTCTACAAAAAAGTAAAAAACTAGCTAGGCATGGTGGCTCTCCTGTAGTCCCAGCTACTTGGGATGTTGAGGTGGGAGGATCACTTGAGTCTGAGAGGTCGAGGCTGCATTGAGCCATGATTATGTCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAGCAAAAAAAACAAATCGTGGATTCTGAAGCCAGACTGGTATGTGACTTATTAATTGTATGATCCTAGGCAAGTTACTTAATTTCTCTGGCCTGTTTTACAACCCTGCAGGCCAGGTACTATTATCCTCCCTCTATCAAGTGGGGATATAATAATACTACGTGCCTCGCAGGGTAGTTATGAGGATTGAGTTAGTTCACATAAGTAATTTTCTTAGAATAGTGACTGGCCCATTGTAATTGTTGTATAAATGTTTGGTATTATTATTATTATAAAACAGACATGATTTCTACCCTTGTGGACTTTAATAGAGAAGACAAAAAAGTAGCAAATAAAAATAATTATTTATTGTAATAAGTTATAAAGCCACCAGAGTACTGATATGAAAGACAGTAGAGCGGGCATAGATAGATAGGATAGCCAGTGAAGAGACTTCCTGAGGTTGCAGTGAGAGGGTCATGAAAGATCGGAAGGAGTCTTTTAGATTACTTCCAGTATTTAATGCAGGAGTCAAATAATTAATTTCTTTTTCCTAATTGTCAACCATGCATTCTTTTTTTCTTTTAATTGTTTTCCAGCTGTTACACAAGGAAGTAACATATTCTTTTAAAAGAAAATAATTAGTCGGGTTTAGATAAAAATATGTCGGTAGTTTTGTTGTGTTGAAAGTAAAAGTAAAAATGTATGCCGGCCAGGCACGGTTGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCAAAACCATCCTGGCTAACGTGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTATTCAGGAGGCCCAGGCAGGAGAATCGCTTGAACCCTGGAGGCGGAGCTTGGAGTAAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCTACAGAGTGAGACTCCGTCTCAAAAAAAAATGTATACCAAAAATGTTATCCTACTTATCGGTATTATTTGGGGATAATTTAAGATTGCACCAGGAAACTCTTCCTTCATTGACTCTTCTTTGCATTTAACATGATTAATATTGGGTAGAAAGGTGTTAGCTGGTAGTTAAAATTTTTAGCCTACTACATGTTTGCTTAATGATGTGAAATTGGTCCCAAGCATTTCTCTTAGAATTAAAATTAATTTAAAATTTAGAATATGTAACAAGTCACATCTTATTTTGCAGTTTGTAAGGCTACATTGCTAAAATTGAGGAGCATGGGCAGAGACAATAACGTTTTTGTTAAACTTTAATAATACCGTGTAATGGCTTGGTCAGGAAGAATATATAATGCTGAGAGCAATGGATTGGTATCCTCCGGTTTACCTGAGACCTTCATTTATTGATTTGATGGGATTCTACCTGAGAAGTTTTAATAACAAAGTCTTTAGGGCATTTGGGGGATCATACTATTTTTTATAGAAAAATATTTAATATTAATGTCACCTATATTTGTTTTAGTTCATGCTTTTATTGGTAAGATTATTATAGGTAAAAGCATATACAGCATGTTTTGTGAAATGTGTTTATTACTGACTTGGCGATGTCATGGATATGTAGCCTGCTCAGGAAGAACTCAGAGAAGATCCAGATTTTGAAATTAAGGAAGGAGAAGGACTTGAAGAGTGCTCCAAAATAGAAGTAAAAGAAGAAAGCCCTCAATCAAAAGCAGAAACAGAATTAAAAGCTTCCCAAAAACCAATCAGAAAACACAGGAACATGCACTGCAAGGTTTCTTTGTTGGATGACACAGTTTATGAATGTGTTGTGGAGGTGAGTATGTTTTCATTTCCAACAATCAGAACTCTTACAGGTGGTTTCATCTAGAGTTGCGTAAGTGGTGATTTTGCCCACGATAAGACTCACTGTAGTGATTATTTCTTTTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGTAGCCCCCAACTCCCATGTTCAAGTGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGCCATGTGCCACCATGCCAGGCTAATTTTTTGTATTTTTAGTAGAGACAGATTTCACCATATTGGTCAGGCTGGTCTTGAAGTCCGGGCCTCAAGTGATCTGCCCACCTCGGCCTCCCAAATTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCTTTAATGATTATTTCTGTAGATGGAAGTATTAATGGTGATTTTCTGGAGGTGGGATTATGGGAAGATGATGAGTAAGTCTTTAAGTCCAGTAAATGCCATTTCTTAAAATTTTCTGTTTTCTGAAAGAATAAGTGATTGAATCAGGATTGAAGAAAAATATCAGAGTTATTCAGTTACTCTTTTTGCTCCTTCAGGACAAGTTGACAATTTTTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCTCTCTGTCGTCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCTGGCTAGTTTTTTGTGTTTTAAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGTTTACAGGCTTGAGCCACCGCGCCCGGCCAGAGCAAGTTGAAATTTTAAAAAAATCTACTAACTATATATTTTTCAAACTGGAACAGTAGTTGTTTATTATGATATGCTTGATATATAAGCAATTGCAATTGTTACTAGTAACAGCTTTTATTGACAAAGTGTGTAATTCACATATATGTGGAACAAACTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGACAGGGTCTTGCTCTGTTGCCCAGGTTGAAGTGCAGTGGCGCAGTGACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATACCATCACACCTGGCTAATTTTTTATATTTTTTGTAGAGACAGGTTCTCACCATGTTGCCCAGGTTACTCTTGAGCTCCCCGGCTCAAGCGATCTGCCTGCCTCAGCCTCCCAAAGTACTAAGATTATAGGCATGAGTCACCGCACCCAGCCTTATTTCTTAATCACATTATTTATTTGCAAATGTAAATATGTTCAATCACAAATCATCTAAAATATTATGCTATATTTACTAATAGGTATTCTCTAAGTTTAAAAAGGAAATCAAGAAAGATGTAATTGTACTTTGAAACAGGTACTATACACCTAACTAGAGCCTTAGGGTCTGCTTTTTCTGCTTCTTGCACTAACTAATTTAGAGATGGGGAAAGCTATTTTACACCTATTCTTCCCATTCAGACCAAGATCCAGATATGGATCTCTTATATATGAAGCCCTTGGGGACAGATGTGTCATAGAATTCAGAATATTTTGAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAAGAAATCGAGACCATACTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTG
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GCCTGTAAATCCAGCACTCTGGGAGACTGAGGCAGGAGGATCACTAGAGCCCCGGAGTTCGAGACCAACCTGGGCAACATGGAGAAACACCATCTCTACAAAAAAGTAAAAAACTAGCTAGGCATGGTGGCTCTCCTGTAGTCCCAGCTACTTGGGATGTTGAGGTGGGAGGATCACTTGAGTCTGAGAGGTCGAGGCTGCATTGAGCCATGATTATGTCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAGCAAAAAAAACAAATCGTGGATTCTGAAGCCAGACTGGTATGTGACTTATTAATTGTATGATCCTAGGCAAGTTACTTAATTTCTCTGGCCTGTTTTACAACCCTGCAGGCCAGGTACTATTATCCTCCCTCTATCAAGTGGGGATATAATAATACTACGTGCCTCGCAGGGTAGTTATGAGGATTGAGTTAGTTCACATAAGTAATTTTCTTAGAATAGTGACTGGCCCATTGTAATTGTTGTATAAATGTTTGGTATTATTATTATTATAAAACAGACATGATTTCTACCCTTGTGGACTTTAATAGAGAAGACAAAAAAGTAGCAAATAAAAATAATTATTTATTGTAATAAGTTATAAAGCCACCAGAGTACTGATATGAAAGACAGTAGAGCGGGCATAGATAGATAGGATAGCCAGTGAAGAGACTTCCTGAGGTTGCAGTGAGAGGGTCATGAAAGATCGGAAGGAGTCTTTTAGATTACTTCCAGTATTTAATGCAGGAGTCAAATAATTAATTTCTTTTTCCTAATTGTCAACCATGCATTCTTTTTTTCTTTTAATTGTTTTCCAGCTGTTACACAAGGAAGTAACATATTCTTTTAAAAGAAAATAATTAGTCGGGTTTAGATAAAAATATGTCGGTAGTTTTGTTGTGTTGAAAGTAAAAGTAAAAATGTATGCCGGCCAGGCACGGTTGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCAAAACCATCCTGGCTAACGTGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTATTCAGGAGGCCCAGGCAGGAGAATCGCTTGAACCCTGGAGGCGGAGCTTGGAGTAAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCTACAGAGTGAGACTCCGTCTCAAAAAAAAATGTATACCAAAAATGTTATCCTACTTATCGGTATTATTTGGGGATAATTTAAGATTGCACCAGGAAACTCTTCCTTCATTGACTCTTCTTTGCATTTAACATGATTAATATTGGGTAGAAAGGTGTTAGCTGGTAGTTAAAATTTTTAGCCTACTACATGTTTGCTTAATGATGTGAAATTGGTCCCAAGCATTTCTCTTAGAATTAAAATTAATTTAAAATTTAGAATATGTAACAAGTCACATCTTATTTTGCAGTTTGTAAGGCTACATTGCTAAAATTGAGGAGCATGGGCAGAGACAATAACGTTTTTGTTAAACTTTAATAATACCGTGTAATGGCTTGGTCAGGAAGAATATATAATGCTGAGAGCAATGGATTGGTATCCTCCGGTTTACCTGAGACCTTCATTTATTGATTTGATGGGATTCTACCTGAGAAGTTTTAATAACAAAGTCTTTAGGGCATTTGGGGGATCATACTATTTTTTATAGAAAAATATTTAATATTAATGTCACCTATATTTGTTTTAGTTCATGCTTTTATTGGTAAGATTATTATAGGTAAAAGCATATACAGCATGTTTTGTGAAATGTGTTTATTACTGACTTGGCGATGTCATGGATATGTAGCCTGCTCAGGAAGAACTCAGAGAAGATCCAGATTTTGAAATTAAGGAAGGAGAAGGACTTGAAGAGTGCTCCAAAATAGAAGTAAAAGAAGAAAGCCCTCAATCAAAAGCAGAAACAGAATTAAAAGCTTCCCAAAAACCAATCAGAAAACACAGGAACACGCACTGCAAGGTTTCTTTGTTGGATGACACAGTTTATGAATGTGTTGTGGAGGTGAGTATGTTTTCATTTCCAACAATCAGAACTCTTACAGGTGGTTTCATCTAGAGTTGCGTAAGTGGTGATTTTGCCCACGATAAGACTCACTGTAGTGATTATTTCTTTTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGTAGCCCCCAACTCCCATGTTCAAGTGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGCCATGTGCCACCATGCCAGGCTAATTTTTTGTATTTTTAGTAGAGACAGATTTCACCATATTGGTCAGGCTGGTCTTGAAGTCCGGGCCTCAAGTGATCTGCCCACCTCGGCCTCCCAAATTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCTTTAATGATTATTTCTGTAGATGGAAGTATTAATGGTGATTTTCTGGAGGTGGGATTATGGGAAGATGATGAGTAAGTCTTTAAGTCCAGTAAATGCCATTTCTTAAAATTTTCTGTTTTCTGAAAGAATAAGTGATTGAATCAGGATTGAAGAAAAATATCAGAGTTATTCAGTTACTCTTTTTGCTCCTTCAGGACAAGTTGACAATTTTTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCTCTCTGTCGTCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCTGGCTAGTTTTTTGTGTTTTAAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGTTTACAGGCTTGAGCCACCGCGCCCGGCCAGAGCAAGTTGAAATTTTAAAAAAATCTACTAACTATATATTTTTCAAACTGGAACAGTAGTTGTTTATTATGATATGCTTGATATATAAGCAATTGCAATTGTTACTAGTAACAGCTTTTATTGACAAAGTGTGTAATTCACATATATGTGGAACAAACTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGACAGGGTCTTGCTCTGTTGCCCAGGTTGAAGTGCAGTGGCGCAGTGACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATACCATCACACCTGGCTAATTTTTTATATTTTTTGTAGAGACAGGTTCTCACCATGTTGCCCAGGTTACTCTTGAGCTCCCCGGCTCAAGCGATCTGCCTGCCTCAGCCTCCCAAAGTACTAAGATTATAGGCATGAGTCACCGCACCCAGCCTTATTTCTTAATCACATTATTTATTTGCAAATGTAAATATGTTCAATCACAAATCATCTAAAATATTATGCTATATTTACTAATAGGTATTCTCTAAGTTTAAAAAGGAAATCAAGAAAGATGTAATTGTACTTTGAAACAGGTACTATACACCTAACTAGAGCCTTAGGGTCTGCTTTTTCTGCTTCTTGCACTAACTAATTTAGAGATGGGGAAAGCTATTTTACACCTATTCTTCCCATTCAGACCAAGATCCAGATATGGATCTCTTATATATGAAGCCCTTGGGGACAGATGTGTCATAGAATTCAGAATATTTTGAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAAGAAATCGAGACCATACTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTG
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Task1_train_632
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This variant affects the gene EPB41 (erythrocyte membrane protein band 4.1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Elliptocytosis 1
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GCCTGTAAATCCAGCACTCTGGGAGACTGAGGCAGGAGGATCACTAGAGCCCCGGAGTTCGAGACCAACCTGGGCAACATGGAGAAACACCATCTCTACAAAAAAGTAAAAAACTAGCTAGGCATGGTGGCTCTCCTGTAGTCCCAGCTACTTGGGATGTTGAGGTGGGAGGATCACTTGAGTCTGAGAGGTCGAGGCTGCATTGAGCCATGATTATGTCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAGCAAAAAAAACAAATCGTGGATTCTGAAGCCAGACTGGTATGTGACTTATTAATTGTATGATCCTAGGCAAGTTACTTAATTTCTCTGGCCTGTTTTACAACCCTGCAGGCCAGGTACTATTATCCTCCCTCTATCAAGTGGGGATATAATAATACTACGTGCCTCGCAGGGTAGTTATGAGGATTGAGTTAGTTCACATAAGTAATTTTCTTAGAATAGTGACTGGCCCATTGTAATTGTTGTATAAATGTTTGGTATTATTATTATTATAAAACAGACATGATTTCTACCCTTGTGGACTTTAATAGAGAAGACAAAAAAGTAGCAAATAAAAATAATTATTTATTGTAATAAGTTATAAAGCCACCAGAGTACTGATATGAAAGACAGTAGAGCGGGCATAGATAGATAGGATAGCCAGTGAAGAGACTTCCTGAGGTTGCAGTGAGAGGGTCATGAAAGATCGGAAGGAGTCTTTTAGATTACTTCCAGTATTTAATGCAGGAGTCAAATAATTAATTTCTTTTTCCTAATTGTCAACCATGCATTCTTTTTTTCTTTTAATTGTTTTCCAGCTGTTACACAAGGAAGTAACATATTCTTTTAAAAGAAAATAATTAGTCGGGTTTAGATAAAAATATGTCGGTAGTTTTGTTGTGTTGAAAGTAAAAGTAAAAATGTATGCCGGCCAGGCACGGTTGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCAAAACCATCCTGGCTAACGTGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTATTCAGGAGGCCCAGGCAGGAGAATCGCTTGAACCCTGGAGGCGGAGCTTGGAGTAAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCTACAGAGTGAGACTCCGTCTCAAAAAAAAATGTATACCAAAAATGTTATCCTACTTATCGGTATTATTTGGGGATAATTTAAGATTGCACCAGGAAACTCTTCCTTCATTGACTCTTCTTTGCATTTAACATGATTAATATTGGGTAGAAAGGTGTTAGCTGGTAGTTAAAATTTTTAGCCTACTACATGTTTGCTTAATGATGTGAAATTGGTCCCAAGCATTTCTCTTAGAATTAAAATTAATTTAAAATTTAGAATATGTAACAAGTCACATCTTATTTTGCAGTTTGTAAGGCTACATTGCTAAAATTGAGGAGCATGGGCAGAGACAATAACGTTTTTGTTAAACTTTAATAATACCGTGTAATGGCTTGGTCAGGAAGAATATATAATGCTGAGAGCAATGGATTGGTATCCTCCGGTTTACCTGAGACCTTCATTTATTGATTTGATGGGATTCTACCTGAGAAGTTTTAATAACAAAGTCTTTAGGGCATTTGGGGGATCATACTATTTTTTATAGAAAAATATTTAATATTAATGTCACCTATATTTGTTTTAGTTCATGCTTTTATTGGTAAGATTATTATAGGTAAAAGCATATACAGCATGTTTTGTGAAATGTGTTTATTACTGACTTGGCGATGTCATGGATATGTAGCCTGCTCAGGAAGAACTCAGAGAAGATCCAGATTTTGAAATTAAGGAAGGAGAAGGACTTGAAGAGTGCTCCAAAATAGAAGTAAAAGAAGAAAGCCCTCAATCAAAAGCAGAAACAGAATTAAAAGCTTCCCAAAAACCAATCAGAAAACACAGGAACATGCACTGCAAGGTTTCTTTGTTGGATGACACAGTTTATGAATGTGTTGTGGAGGTGAGTATGTTTTCATTTCCAACAATCAGAACTCTTACAGGTGGTTTCATCTAGAGTTGCGTAAGTGGTGATTTTGCCCACGATAAGACTCACTGTAGTGATTATTTCTTTTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGTAGCCCCCAACTCCCATGTTCAAGTGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGCCATGTGCCACCATGCCAGGCTAATTTTTTGTATTTTTAGTAGAGACAGATTTCACCATATTGGTCAGGCTGGTCTTGAAGTCCGGGCCTCAAGTGATCTGCCCACCTCGGCCTCCCAAATTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCTTTAATGATTATTTCTGTAGATGGAAGTATTAATGGTGATTTTCTGGAGGTGGGATTATGGGAAGATGATGAGTAAGTCTTTAAGTCCAGTAAATGCCATTTCTTAAAATTTTCTGTTTTCTGAAAGAATAAGTGATTGAATCAGGATTGAAGAAAAATATCAGAGTTATTCAGTTACTCTTTTTGCTCCTTCAGGACAAGTTGACAATTTTTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCTCTCTGTCGTCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCTGGCTAGTTTTTTGTGTTTTAAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGTTTACAGGCTTGAGCCACCGCGCCCGGCCAGAGCAAGTTGAAATTTTAAAAAAATCTACTAACTATATATTTTTCAAACTGGAACAGTAGTTGTTTATTATGATATGCTTGATATATAAGCAATTGCAATTGTTACTAGTAACAGCTTTTATTGACAAAGTGTGTAATTCACATATATGTGGAACAAACTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGACAGGGTCTTGCTCTGTTGCCCAGGTTGAAGTGCAGTGGCGCAGTGACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATACCATCACACCTGGCTAATTTTTTATATTTTTTGTAGAGACAGGTTCTCACCATGTTGCCCAGGTTACTCTTGAGCTCCCCGGCTCAAGCGATCTGCCTGCCTCAGCCTCCCAAAGTACTAAGATTATAGGCATGAGTCACCGCACCCAGCCTTATTTCTTAATCACATTATTTATTTGCAAATGTAAATATGTTCAATCACAAATCATCTAAAATATTATGCTATATTTACTAATAGGTATTCTCTAAGTTTAAAAAGGAAATCAAGAAAGATGTAATTGTACTTTGAAACAGGTACTATACACCTAACTAGAGCCTTAGGGTCTGCTTTTTCTGCTTCTTGCACTAACTAATTTAGAGATGGGGAAAGCTATTTTACACCTATTCTTCCCATTCAGACCAAGATCCAGATATGGATCTCTTATATATGAAGCCCTTGGGGACAGATGTGTCATAGAATTCAGAATATTTTGAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAAGAAATCGAGACCATACTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTG
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GCCTGTAAATCCAGCACTCTGGGAGACTGAGGCAGGAGGATCACTAGAGCCCCGGAGTTCGAGACCAACCTGGGCAACATGGAGAAACACCATCTCTACAAAAAAGTAAAAAACTAGCTAGGCATGGTGGCTCTCCTGTAGTCCCAGCTACTTGGGATGTTGAGGTGGGAGGATCACTTGAGTCTGAGAGGTCGAGGCTGCATTGAGCCATGATTATGTCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAGCAAAAAAAACAAATCGTGGATTCTGAAGCCAGACTGGTATGTGACTTATTAATTGTATGATCCTAGGCAAGTTACTTAATTTCTCTGGCCTGTTTTACAACCCTGCAGGCCAGGTACTATTATCCTCCCTCTATCAAGTGGGGATATAATAATACTACGTGCCTCGCAGGGTAGTTATGAGGATTGAGTTAGTTCACATAAGTAATTTTCTTAGAATAGTGACTGGCCCATTGTAATTGTTGTATAAATGTTTGGTATTATTATTATTATAAAACAGACATGATTTCTACCCTTGTGGACTTTAATAGAGAAGACAAAAAAGTAGCAAATAAAAATAATTATTTATTGTAATAAGTTATAAAGCCACCAGAGTACTGATATGAAAGACAGTAGAGCGGGCATAGATAGATAGGATAGCCAGTGAAGAGACTTCCTGAGGTTGCAGTGAGAGGGTCATGAAAGATCGGAAGGAGTCTTTTAGATTACTTCCAGTATTTAATGCAGGAGTCAAATAATTAATTTCTTTTTCCTAATTGTCAACCATGCATTCTTTTTTTCTTTTAATTGTTTTCCAGCTGTTACACAAGGAAGTAACATATTCTTTTAAAAGAAAATAATTAGTCGGGTTTAGATAAAAATATGTCGGTAGTTTTGTTGTGTTGAAAGTAAAAGTAAAAATGTATGCCGGCCAGGCACGGTTGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCAAAACCATCCTGGCTAACGTGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTATTCAGGAGGCCCAGGCAGGAGAATCGCTTGAACCCTGGAGGCGGAGCTTGGAGTAAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCTACAGAGTGAGACTCCGTCTCAAAAAAAAATGTATACCAAAAATGTTATCCTACTTATCGGTATTATTTGGGGATAATTTAAGATTGCACCAGGAAACTCTTCCTTCATTGACTCTTCTTTGCATTTAACATGATTAATATTGGGTAGAAAGGTGTTAGCTGGTAGTTAAAATTTTTAGCCTACTACATGTTTGCTTAATGATGTGAAATTGGTCCCAAGCATTTCTCTTAGAATTAAAATTAATTTAAAATTTAGAATATGTAACAAGTCACATCTTATTTTGCAGTTTGTAAGGCTACATTGCTAAAATTGAGGAGCATGGGCAGAGACAATAACGTTTTTGTTAAACTTTAATAATACCGTGTAATGGCTTGGTCAGGAAGAATATATAATGCTGAGAGCAATGGATTGGTATCCTCCGGTTTACCTGAGACCTTCATTTATTGATTTGATGGGATTCTACCTGAGAAGTTTTAATAACAAAGTCTTTAGGGCATTTGGGGGATCATACTATTTTTTATAGAAAAATATTTAATATTAATGTCACCTATATTTGTTTTAGTTCATGCTTTTATTGGTAAGATTATTATAGGTAAAAGCATATACAGCATGTTTTGTGAAATGTGTTTATTACTGACTTGGCGATGTCATGGATATGTAGCCTGCTCAGGAAGAACTCAGAGAAGATCCAGATTTTGAAATTAAGGAAGGAGAAGGACTTGAAGAGTGCTCCAAAATAGAAGTAAAAGAAGAAAGCCCTCAATCAAAAGCAGAAACAGAATTAAAAGCTTCCCAAAAACCAATCAGAAAACACAGGAACAGGCACTGCAAGGTTTCTTTGTTGGATGACACAGTTTATGAATGTGTTGTGGAGGTGAGTATGTTTTCATTTCCAACAATCAGAACTCTTACAGGTGGTTTCATCTAGAGTTGCGTAAGTGGTGATTTTGCCCACGATAAGACTCACTGTAGTGATTATTTCTTTTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGTAGCCCCCAACTCCCATGTTCAAGTGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGCCATGTGCCACCATGCCAGGCTAATTTTTTGTATTTTTAGTAGAGACAGATTTCACCATATTGGTCAGGCTGGTCTTGAAGTCCGGGCCTCAAGTGATCTGCCCACCTCGGCCTCCCAAATTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCTTTAATGATTATTTCTGTAGATGGAAGTATTAATGGTGATTTTCTGGAGGTGGGATTATGGGAAGATGATGAGTAAGTCTTTAAGTCCAGTAAATGCCATTTCTTAAAATTTTCTGTTTTCTGAAAGAATAAGTGATTGAATCAGGATTGAAGAAAAATATCAGAGTTATTCAGTTACTCTTTTTGCTCCTTCAGGACAAGTTGACAATTTTTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCTCTCTGTCGTCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCTGGCTAGTTTTTTGTGTTTTAAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGTTTACAGGCTTGAGCCACCGCGCCCGGCCAGAGCAAGTTGAAATTTTAAAAAAATCTACTAACTATATATTTTTCAAACTGGAACAGTAGTTGTTTATTATGATATGCTTGATATATAAGCAATTGCAATTGTTACTAGTAACAGCTTTTATTGACAAAGTGTGTAATTCACATATATGTGGAACAAACTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGACAGGGTCTTGCTCTGTTGCCCAGGTTGAAGTGCAGTGGCGCAGTGACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATACCATCACACCTGGCTAATTTTTTATATTTTTTGTAGAGACAGGTTCTCACCATGTTGCCCAGGTTACTCTTGAGCTCCCCGGCTCAAGCGATCTGCCTGCCTCAGCCTCCCAAAGTACTAAGATTATAGGCATGAGTCACCGCACCCAGCCTTATTTCTTAATCACATTATTTATTTGCAAATGTAAATATGTTCAATCACAAATCATCTAAAATATTATGCTATATTTACTAATAGGTATTCTCTAAGTTTAAAAAGGAAATCAAGAAAGATGTAATTGTACTTTGAAACAGGTACTATACACCTAACTAGAGCCTTAGGGTCTGCTTTTTCTGCTTCTTGCACTAACTAATTTAGAGATGGGGAAAGCTATTTTACACCTATTCTTCCCATTCAGACCAAGATCCAGATATGGATCTCTTATATATGAAGCCCTTGGGGACAGATGTGTCATAGAATTCAGAATATTTTGAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAAGAAATCGAGACCATACTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTG
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Task1_train_633
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Gene MECR (mitochondrial trans-2-enoyl-CoA reductase), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
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CCCCAACTGAGGGGCCTGCACCCAGCCCCTCAGATCCGCCTCCCCTCCCATGTCACTCCAGCTCTTTTGGGATGATCACATGGTGAGAATCTGCTTTGAAGATATGAAGGGCTTCATGGAGGCTTCCAAGGCAGACTGGTAGTCCTGCAGCGGGACCTGGGAGCAGGCAGGGGCTGTGAGCTGGCCTCGGCGGATGAGATCGCACAGTGTGAGGATCAGCTCCTTGAACTGGTCTGCGGGAGGTTGGAGGAAATCAGACAAGAGAACAGCAGCTGGGGCTTGGTGAGATGTGGCACGGGGCTGCCCTATGGGCAGGAGCTGGCACCAAGCTCCAATAAAGCCTTGAGAGTCCTGGCTGTGCCAAGGATAGGGTGGCTGTGGAGGCAGCCTGGTCCCTGCCTGTCTTTAGGACAGTGAGGTCAAGGTGGGGAGAGGGGAACATAGGAGCGGCTCTAGGGGCTGAGGGGCAGACAGGCAGAGACCACCCTTCAGAGTGGTGGCTAAGATGGCACAGACTCACAGAACCTGGCCACAGTGGAGACAGGAGCACTGAATGGTGGGAGGAAAAGGATGGCGGAGGCAGGGAGGCCAGAGGAGGCCCAGAGAGGGAGTGGGTATGCCTGGCACGCCAAGTGATGTGGAACAGTTGAGCTCTGCTCAGGAAATGGAGCTCTCCCTGAGAGCCCAGGACTCCCTTAGAACCCCACGACCGGACGCCACCAACATCCCCTTCCTGGGCCTGCCTCCTGCGAAGGACCCTATATGGTACAGGAAGTTGAGAAGTGAAGGCCTCGGCTGAGAAGTGTTTTTCCATAGACATAAATTCATTCAGCCTTCAAATCTAGTCATCTATACTGGCTCCTCAGTTGCCTTTAAGCGTGAGTCTTGTCTGGGTGTGGTGCCTCACGCCTGTAATCCCAGCACTCTTGGAGGCTGAGGTGGGTGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGATGAAACCCCATTTCTACTAAAAATACAAAAACTAGCTGGATGTGGTGGCGTGTGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAACCGAGGAGGTTGAGTCTGTAGTGATCTGTGACCACACCACTGCACTCCAGCCAGGGCAACAGAGCGATACCTTGTTTCAAAAAAAATAACCCCCCAAAACAGCAAAAAAACCCATGAGTCTGAATGCCTTAATCAGGTTTATAAGGCCTCTGTAACCTGGTCACAACCCACTCACCCAATTTTCCAGCCCCAGCTCAGATCTAGTGCTCCAGGTCGCTCGGAACCGCTTCAGTGCCTAGTTGCACGTGTGATTTTCGATATTTTCTGCCTGAAACACTGCCTTCATGCCACCACCTTCCTCCCCTTCACTTGGATAACTCCATGTTATTCTTTGTCCTGAGTTTGGAGATCCCGCTCTGGGGAGCCAGTCCTCCAGGAGATGAACAGGGAGATGATCTGTTTACATCGTGCCTCATACCTCCCTGCAGGGAGGTGACTTTGGGCACGCTACTTAACCACTCTGAACCTCAATTTCCTCCTCTGTCAAACACGGCTAACAAGAGTTTAAACTTAGGACATTTAAACTGAGGCAGAGATTAAGTAACTTGCTCAAGGTCCCACTGCTGGCTAGGCAGAACCTCTATCCAGTAGTGTGGAAGCAGAATTTGAACCCAGGCAGGCTGGCTCCAGAGTCTATTCTCTCTGTTTGGCTATCCATCTTTCCCCACTGTCAGCTCTTCAGGACGGGGGCAGTGTCTGTCTTGTTCTGCGCCCCTAAGACTAACCCAGTTTAGTCCAATAACTGTTTGCTGACTGTAGCTGGACTAAGGCTATTCTCTTTGATCCTTCTGTGGGGCTGGGGACCCAATCACCCCTCCAGGGCTCAGAATAGCTGGTCATTTCTGCTGCCATTTTTAGGCACTGCCCTCATCTGTGACTCTTGGCACTGGGCCATGCACTCACCTGGACTGTGATCCTTCTTCCACTGGGACAACCAAAAGCCTCGAAGTTTGAGATCCTTAAAAATGAGCAGGCTCTGCAGACACAGGAAGGACATGCTGGGCTCTGAGGGCAAGAACTTCAGGTACCGCTTAAGGGTACAGACTCCCCTCCAGGAACGGGGCATTGCCTAAGCTTAGACAGCTGTCGTGCCAGGGGATGTGGCCTGGCTGAGGTGTCTGGCCCGGCTCCAGGCATGCCTCCCTCTGCACCCAGCTTACCACAGAGGCTACGACGGGCTGCTTGGCCATCCCCCCATAGGTTACCATGGTTCCTCCACGCCTGAAAAGTCCAAAGAGAACAAAGAGTGGATGCAAGGCAGAGACAGAGCCCTTCCTGAACCTGCCATGGCGCTTCTACTCCAACCCTGGTTCCTTTATAAACCCTGCTCTCAGAATCTCTGGGAAAGGTTGAAAAATACAGATTCCAGCTGGGAGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCTTGGGCAACAAAAGGAGACCCCATCTCTACAAAAAAAGTACAGAAAATTAGCTGGGCAAGGCGGCATGCCTGTAGTCCCAGCTTCTCAGGAGGCTGAGGTGGGAGAATCACCTGAGGCCATGAAATTGAGGTTGCAGTGAGCCCTGATCGCACTACTGCACTCCAGTCTGGGCAACAGAGTGAGACCCTGTCTCAGAAAATAAATGAATGAATGAATAAATAAATGCATGCTGGGGATGGCAGCTCACACCTGTAATACCAGCACTTTGGGAGGCCAAGGTGAGAGGATTGCCTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCTGTGTCTATAAATAATAATAAAAAAAAATTAGCTGGGCACGGTGATACATGCCTGTGGCCCCACTCAGGAGGCTGAGGTGGGAAGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCTGAGATTGCACTGCTGCATTCCAGCCTAGGCAACACAGTGAGACCATCTCAACACAAAACAAAACAACCAAGAAACCAGATTCCTAGGTCCAATCCCAGACTCAATGAATCAGGAGACGAGAATGTATATTAAACACACACACACACCCGCTCTGGATGACTTGTATGTTTAGCCAGGATTGGGAATCCACTGATCTAACCCATCCAGTCAGGCTTTGATTAAGTGCTGAAAAGAAACATGCTCTCCCCAGATGAGCTCGAGGCCTGAGTTCAGCCTTGGCTCTGCTCTCACTTACAGGTGTCCGACCTAGGGTGATGCAGTGAAAATGGCCCAGACCTCATCTCTTCATCTGCCAGTGCTCATTCTAAGAATCAACGTGAGGAAACAGCTCTACAGATAAGGAATGATGTGGACGGTGCAGGGAACAATGACAAGCATCTTCTCACTGCAGGAGGTGCCTTCTCAGTACCTGCTGTCTGACACCCACACCCCCATGTCAGCTGACATACAGGATTGAGGCTAACATAATTTTTAAGTGAATAAGCCTGGAGTTCACTTGACTTAACCTATGTTCACCTCCCCACTCCCTGGCTCTTCTAGGAGTCTGTTGATTAAGGATGACCTCAGGCACATTTGGGGACAACACAAGGTAGACTTTCAAAACTACCAAATGGAAGGAGCTGCTGTCCTAGGGCAGGTACTTCTGTCCCTGAGGCTGCTGGGTAGTTTGGTCTTAAGTGCCCCTTGACTGCCACCTGCTGTAGAAAGTAGCTCCTGGGAGCCAAGCCCTCTCTCTTCTGTATCCCTGCTGCACTTCATCTAATCAGACTAGCTGACACTTACCAGGCTTCTACTATGTGCCAGGCACAGTTCTAAGCATTTTGCATGCACTGCCTCAGGGAATCCTCGTAACAACCTTGTTTTAGAGATGAGAAAGCTGAAGTCCATCCGTCATTTGTACAGCAATTTGTATATCGCCCAGTGTCCTTTAGACCAGCGGTCCCTAACCTTGTTGGCACCAGGACCGGTTTCATGGAAGACAATTTTTCCATGGACTGGAGTGGGGGAGATGGTTTTGGGATGAAACTG
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CCCCAACTGAGGGGCCTGCACCCAGCCCCTCAGATCCGCCTCCCCTCCCATGTCACTCCAGCTCTTTTGGGATGATCACATGGTGAGAATCTGCTTTGAAGATATGAAGGGCTTCATGGAGGCTTCCAAGGCAGACTGGTAGTCCTGCAGCGGGACCTGGGAGCAGGCAGGGGCTGTGAGCTGGCCTCGGCGGATGAGATCGCACAGTGTGAGGATCAGCTCCTTGAACTGGTCTGCGGGAGGTTGGAGGAAATCAGACAAGAGAACAGCAGCTGGGGCTTGGTGAGATGTGGCACGGGGCTGCCCTATGGGCAGGAGCTGGCACCAAGCTCCAATAAAGCCTTGAGAGTCCTGGCTGTGCCAAGGATAGGGTGGCTGTGGAGGCAGCCTGGTCCCTGCCTGTCTTTAGGACAGTGAGGTCAAGGTGGGGAGAGGGGAACATAGGAGCGGCTCTAGGGGCTGAGGGGCAGACAGGCAGAGACCACCCTTCAGAGTGGTGGCTAAGATGGCACAGACTCACAGAACCTGGCCACAGTGGAGACAGGAGCACTGAATGGTGGGAGGAAAAGGATGGCGGAGGCAGGGAGGCCAGAGGAGGCCCAGAGAGGGAGTGGGTATGCCTGGCACGCCAAGTGATGTGGAACAGTTGAGCTCTGCTCAGGAAATGGAGCTCTCCCTGAGAGCCCAGGACTCCCTTAGAACCCCACGACCGGACGCCACCAACATCCCCTTCCTGGGCCTGCCTCCTGCGAAGGACCCTATATGGTACAGGAAGTTGAGAAGTGAAGGCCTCGGCTGAGAAGTGTTTTTCCATAGACATAAATTCATTCAGCCTTCAAATCTAGTCATCTATACTGGCTCCTCAGTTGCCTTTAAGCGTGAGTCTTGTCTGGGTGTGGTGCCTCACGCCTGTAATCCCAGCACTCTTGGAGGCTGAGGTGGGTGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGATGAAACCCCATTTCTACTAAAAATACAAAAACTAGCTGGATGTGGTGGCGTGTGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAACCGAGGAGGTTGAGTCTGTAGTGATCTGTGACCACACCACTGCACTCCAGCCAGGGCAACAGAGCGATACCTTGTTTCAAAAAAAATAACCCCCCAAAACAGCAAAAAAACCCATGAGTCTGAATGCCTTAATCAGGTTTATAAGGCCTCTGTAACCTGGTCACAACCCACTCACCCAATTTTCCAGCCCCAGCTCAGATCTAGTGCTCCAGGTCGCTCGGAACCGCTTCAGTGCCTAGTTGCACGTGTGATTTTCGATATTTTCTGCCTGAAACACTGCCTTCATGCCACCACCTTCCTCCCCTTCACTTGGATAACTCCATGTTATTCTTTGTCCTGAGTTTGGAGATCCCGCTCTGGGGAGCCAGTCCTCCAGGAGATGAACAGGGAGATGATCTGTTTACATCGTGCCTCATACCTCCCTGCAGGGAGGTGACTTTGGGCACGCTACTTAACCACTCTGAACCTCAATTTCCTCCTCTGTCAAACACGGCTAACAAGAGTTTAAACTTAGGACATTTAAACTGAGGCAGAGATTAAGTAACTTGCTCAAGGTCCCACTGCTGGCTAGGCAGAACCTCTATCCAGTAGTGTGGAAGCAGAATTTGAACCCAGGCAGGCTGGCTCCAGAGTCTATTCTCTCTGTTTGGCTATCCATCTTTCCCCACTGTCAGCTCTTCAGGACGGGGGCAGTGTCTGTCTTGTTCTGCGCCCCTAAGACTAACCCAGTTTAGTCCAATAACTGTTTGCTGACTGTAGCTGGACTAAGGCTATTCTCTTTGATCCTTCTGTGGGGCTGGGGACCCAATCACCCCTCCAGGGCTCAGAATAGCTGGTCATTTCTGCTGCCATTTTTAGGCACTGCCCTCATCTGTGACTCTTGGCACTGGGCCATGCACTCACCTGGACTGTGATCCTTCTTCCACTGGGACAACCAAAAGCCTCGAAGTTTGAGATACTTAAAAATGAGCAGGCTCTGCAGACACAGGAAGGACATGCTGGGCTCTGAGGGCAAGAACTTCAGGTACCGCTTAAGGGTACAGACTCCCCTCCAGGAACGGGGCATTGCCTAAGCTTAGACAGCTGTCGTGCCAGGGGATGTGGCCTGGCTGAGGTGTCTGGCCCGGCTCCAGGCATGCCTCCCTCTGCACCCAGCTTACCACAGAGGCTACGACGGGCTGCTTGGCCATCCCCCCATAGGTTACCATGGTTCCTCCACGCCTGAAAAGTCCAAAGAGAACAAAGAGTGGATGCAAGGCAGAGACAGAGCCCTTCCTGAACCTGCCATGGCGCTTCTACTCCAACCCTGGTTCCTTTATAAACCCTGCTCTCAGAATCTCTGGGAAAGGTTGAAAAATACAGATTCCAGCTGGGAGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCTTGGGCAACAAAAGGAGACCCCATCTCTACAAAAAAAGTACAGAAAATTAGCTGGGCAAGGCGGCATGCCTGTAGTCCCAGCTTCTCAGGAGGCTGAGGTGGGAGAATCACCTGAGGCCATGAAATTGAGGTTGCAGTGAGCCCTGATCGCACTACTGCACTCCAGTCTGGGCAACAGAGTGAGACCCTGTCTCAGAAAATAAATGAATGAATGAATAAATAAATGCATGCTGGGGATGGCAGCTCACACCTGTAATACCAGCACTTTGGGAGGCCAAGGTGAGAGGATTGCCTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCTGTGTCTATAAATAATAATAAAAAAAAATTAGCTGGGCACGGTGATACATGCCTGTGGCCCCACTCAGGAGGCTGAGGTGGGAAGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCTGAGATTGCACTGCTGCATTCCAGCCTAGGCAACACAGTGAGACCATCTCAACACAAAACAAAACAACCAAGAAACCAGATTCCTAGGTCCAATCCCAGACTCAATGAATCAGGAGACGAGAATGTATATTAAACACACACACACACCCGCTCTGGATGACTTGTATGTTTAGCCAGGATTGGGAATCCACTGATCTAACCCATCCAGTCAGGCTTTGATTAAGTGCTGAAAAGAAACATGCTCTCCCCAGATGAGCTCGAGGCCTGAGTTCAGCCTTGGCTCTGCTCTCACTTACAGGTGTCCGACCTAGGGTGATGCAGTGAAAATGGCCCAGACCTCATCTCTTCATCTGCCAGTGCTCATTCTAAGAATCAACGTGAGGAAACAGCTCTACAGATAAGGAATGATGTGGACGGTGCAGGGAACAATGACAAGCATCTTCTCACTGCAGGAGGTGCCTTCTCAGTACCTGCTGTCTGACACCCACACCCCCATGTCAGCTGACATACAGGATTGAGGCTAACATAATTTTTAAGTGAATAAGCCTGGAGTTCACTTGACTTAACCTATGTTCACCTCCCCACTCCCTGGCTCTTCTAGGAGTCTGTTGATTAAGGATGACCTCAGGCACATTTGGGGACAACACAAGGTAGACTTTCAAAACTACCAAATGGAAGGAGCTGCTGTCCTAGGGCAGGTACTTCTGTCCCTGAGGCTGCTGGGTAGTTTGGTCTTAAGTGCCCCTTGACTGCCACCTGCTGTAGAAAGTAGCTCCTGGGAGCCAAGCCCTCTCTCTTCTGTATCCCTGCTGCACTTCATCTAATCAGACTAGCTGACACTTACCAGGCTTCTACTATGTGCCAGGCACAGTTCTAAGCATTTTGCATGCACTGCCTCAGGGAATCCTCGTAACAACCTTGTTTTAGAGATGAGAAAGCTGAAGTCCATCCGTCATTTGTACAGCAATTTGTATATCGCCCAGTGTCCTTTAGACCAGCGGTCCCTAACCTTGTTGGCACCAGGACCGGTTTCATGGAAGACAATTTTTCCATGGACTGGAGTGGGGGAGATGGTTTTGGGATGAAACTG
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Task1_train_634
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This alteration occurs within gene MECR (mitochondrial trans-2-enoyl-CoA reductase) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Optic atrophy 16
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TGAAGCGGTGTGCTCAAATGTGGGGTCAAGCCTGGCTCTCCTGCTGCCTAGACTTTGGGACAGGTACTTGACCTCTTTGGGCCTTGTTTTTTTTTGTTTGTTTGTTTTTGAGACACACTGTTTCTCTGAAGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGATGGTCTCGAATTTTTGACCTCAGGTGATCCACTTGCCTCGGCCTCCCAAAGTGCTAGGTTTACAGGCATGAGCCACTGCGCCCGGCCTGGGCCTCATTGTTTAAAAGTATAAAACAGAGGTTAGAACTGCACCCCCTGTCTAGGTGGTTGTGGGAAGGGTAAGTCAAGCGCTGCACACAGTCTGGTGCATGGTGAATACTCACCACAGTGCTCTGGCCACGTGACTCACCTGCTCATCAAGCCTGTGAATTCTCAGAGGGCACATCAGTGTCGCAGCCCTCTCTGTACCTGGTAGCTAGTAAGTGCTCAGCAAGTATGCGCTAGCTGAATCCGTACTATTGAGGGGGTTCCTGCTTTAATTAGGAAGTGTCTTTTTACACACACTCTAGCTCAAGAAGCTTTTATTTTTATTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCCCACCGCAAGCTCTGCCTCCGGGGTTCACGCCATTCTCCTGCCTCAGACTCCTGAGCAGCTGGGACTACAGGTGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGACACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGATCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACTGCGCCCGGCCTAGAAGCTTATATTAAGGGAAAGAAGAATGGAAGGACATGCATTAATATTGTCAACAGGGCTTATCCCCCTTGGTAGTGGGGTGATAGGTAACTTTTTTTTTTCTTTTTTGAGATGGAATCTCCCTTTGTCACCCAGGCTGGAGTAGAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAATGATTCTCGTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACCTGGCTAGTCTTTTTGTATTTTTAGTAGAGATGGAGTTTTGCCATGTTGGCCAGGCTGGTCTTAAACTCCTGGCCTCAAGTGATCTGCCTGTCTTGTTGGGATTACAAGCATGAACCACTATGCCTGGCCAGGTAACTTAAAAAAAAAATTAATTTTTTTTTTTGTAGTGATGGGGTCTCACTATGTTACCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATGCTTCCTCCTTGGCCTCCCAAATTACTGGGATTATAGGCATGAGCCACAGTGCCCAGCCAACAGGAAACTTTTATGCTTAAGTTTTCCTTTGCACTTTTACATGTTTTCAAAATGTTTTGTAATAAGCATAATGTTACCTTTAAAATTAGAATCTATTTTAAAAGCTAATACAAATTTTGAAAGGTTAAATAAGTTAGGACTAAGTGACTTTTTCAGACATCCCTAGGTTATAAATCCTTGACTATTCCTCTATGGCAGGCAGCTTAGCAGTCTACTTCTGGGGTCCCTTGGAAAAATAAAGCTGGATAGGCCAAAATTTTGGTCATCTGCAAAGGGGAAGGCTGAGAAACCAGTGCCCAAATAGCTGGATGACTTTGGTCCTAGTTTCCACTCAACATTGTGCTGACCTGGACTTGGCTCGAACTGGCGATGGGACTCAGTCACTTGATGGTCCTCCCAGCTAAAGACCTGGAGAGCTCTGGCGAGCTGGACCTGCAGGCCCAAGGGACTTACGCTAACTGCCGCAGCAGCTCTGTGGAGCTTTTCCCACCAACACAGTTGAGAGCAAGCCGTGGCTGGGGCATGTCCTGGAAAACAACAAAAGTGCAGTGAGGGAGCATCCCCGCTCTACATATGGGGTCTGAAGCTTGCCCAAGTGCTGTGTTAAAAGGAGGGAGTAAATGAGATGTTTATGCCTTTGTTTGCGTGCACGTACTTATGTATATGTGTGTGTGTTTATGCCTTTGAACTCACCTTTTTCTCTGCTTAGGAAGTGTCTTTTCTTTCTTTTTTCTTTTTCTTTCTAAGACAGGGTCTCGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCTACCTTACCCTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTGCAGATGAGTATCATGATGACCAGATAATTAAAAAAAAATGTTTTTTTGTAGAGACAGAGGTCTCACTATGTTGCTCAGGCTAGTCTCAAACTCTCAGACTCAAGCAATCCGCCTGCCTTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGTCACCTCATCCAGCCAAGAAGGGCCTTTTCTGTAGCAACTTAATCCTGTTGTCCATTTTAGGACCTGGCAGAACTCATCTTCTCTGGGAAAGAATAGGCAAAGGGCATCTGCATGCAGTTTGGTGGGTTTCAGCTCCCTGTGTGCCCCCCTTTTCAGTTCTTTGACTCAGCTGATATTATATATGCTGATCTACTGCTTCAGAAATGTTCGCAAGAAGCGCATGCTCTTGAGTGTGTGTCTTTGGTTCCTCCAGATGGTTCAGTGAAAAGGGGCTGAGGGTCTGGTCACTTACTAGGCATGTTGTGGGGTGGAGGTTCTGGAAGGTTAAGAGGCTTTGAGTTCGGAGAGACTGAGGCCAGCTCTGACTCTCTGGAGCCCTTATAAACTATATGATTTTGGTTAAGCATTTCCTCTTTTCTGAGTCTTAGTTTCCTAATCTGTAAAACAGATAACAGTTCCTTTGAAAAGCTTTTGTGGAAATCATCAGATAAAATGTAAGGCAGGTGGTTGGGAAAGGTTACTTCTTTTCTTTCTCTTTCTGTGTCTCTGTTTCCTCAGGTCCTCTCCTGCCAGTTCTAAGAGTCACACATGTGGGCTGATGCGGCCCACCACAAACGTTTAAACTGCAAGTCATACTGGGTTTCCTAAACTCTGTTTCTCATGCCTCCCTCCCAGCATCTGGGCACTTAATGCGTGCTGCCTGCCGCCTGGCTAGGGGGAATGGGCTTTAACCAACCAAGAGGCAAAGGGAGGTTTCCAGAGAGGAACAATGGGGCCAGTCCCCAGTTTCTCTAATGCATGTCAACTTTCTTCAGGGAGATGTGCGTGGACTGGAGGGGCAATGTCCCTCTTCCTAGGTACCTTAAAGAAGTTTTTCATTTCGGGCCTTCTTAGCTCCTCTTCTGTGATGACATGCTCAGCCCCCAGACTCTTCAGTCTGTCACTCAGCTTCTGGATATCAGGTCTGGAAACCAAACATAGGTCCCTGGTCACATCTGCCAGCTTTTTCCACCAAAGCCCCCCAGGACCTCTCTGCCACAGCTGGGAGAACCCGTGCTTCTTTTTGCAGGAAGCTGGGATTAGGTTTAAGCCAGGCTTGAGCAGGGACCAGCCACCTAATTTCATGCAGCTTCAATAGCTCTTGGCTGTCTCCTCACTGGCAACAGAGTGAGACTGGGTGGTTTTCACAGGCCCTGACAGCTCAATAGTGTTAGAAGCCATCTGTGCCCAGGGAGAAGTCACTTAACTTCCTGATTTCTTCTACTGAAAGGACAAACTCCACTTCCCCCCTCTTTTCAAGTGGTTCTTCAGAGTGTTGGACATACACAGTCTAGACCAGGAGTGGCTCTGGGTCTCTTTGGTTAAGGCAAATGGAATTATTTTTGCGAGTACAACTGAGGAACTGAAGCTGGTGTCGATTATACTAAGAGTGGGCTTCCATGACAGCCACAGCCACATTCATGGACAGTGAGGCCTAGAGAAACTGGACGATATGATGGAAAGAGAGTAAGTGAGGAAACCGAGTCTATTACTGACTTGC
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TGAAGCGGTGTGCTCAAATGTGGGGTCAAGCCTGGCTCTCCTGCTGCCTAGACTTTGGGACAGGTACTTGACCTCTTTGGGCCTTGTTTTTTTTTGTTTGTTTGTTTTTGAGACACACTGTTTCTCTGAAGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGATGGTCTCGAATTTTTGACCTCAGGTGATCCACTTGCCTCGGCCTCCCAAAGTGCTAGGTTTACAGGCATGAGCCACTGCGCCCGGCCTGGGCCTCATTGTTTAAAAGTATAAAACAGAGGTTAGAACTGCACCCCCTGTCTAGGTGGTTGTGGGAAGGGTAAGTCAAGCGCTGCACACAGTCTGGTGCATGGTGAATACTCACCACAGTGCTCTGGCCACGTGACTCACCTGCTCATCAAGCCTGTGAATTCTCAGAGGGCACATCAGTGTCGCAGCCCTCTCTGTACCTGGTAGCTAGTAAGTGCTCAGCAAGTATGCGCTAGCTGAATCCGTACTATTGAGGGGGTTCCTGCTTTAATTAGGAAGTGTCTTTTTACACACACTCTAGCTCAAGAAGCTTTTATTTTTATTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCCCACCGCAAGCTCTGCCTCCGGGGTTCACGCCATTCTCCTGCCTCAGACTCCTGAGCAGCTGGGACTACAGGTGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGACACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGATCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACTGCGCCCGGCCTAGAAGCTTATATTAAGGGAAAGAAGAATGGAAGGACATGCATTAATATTGTCAACAGGGCTTATCCCCCTTGGTAGTGGGGTGATAGGTAACTTTTTTTTTTCTTTTTTGAGATGGAATCTCCCTTTGTCACCCAGGCTGGAGTAGAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAATGATTCTCGTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACCTGGCTAGTCTTTTTGTATTTTTAGTAGAGATGGAGTTTTGCCATGTTGGCCAGGCTGGTCTTAAACTCCTGGCCTCAAGTGATCTGCCTGTCTTGTTGGGATTACAAGCATGAACCACTATGCCTGGCCAGGTAACTTAAAAAAAAAATTAATTTTTTTTTTTGTAGTGATGGGGTCTCACTATGTTACCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATGCTTCCTCCTTGGCCTCCCAAATTACTGGGATTATAGGCATGAGCCACAGTGCCCAGCCAACAGGAAACTTTTATGCTTAAGTTTTCCTTTGCACTTTTACATGTTTTCAAAATGTTTTGTAATAAGCATAATGTTACCTTTAAAATTAGAATCTATTTTAAAAGCTAATACAAATTTTGAAAGGTTAAATAAGTTAGGACTAAGTGACTTTTTCAGACATCCCTAGGTTATAAATCCTTGACTATTCCTCTATGGCAGGCAGCTTAGCAGTCTACTTCTGGGGTCCCTTGGAAAAATAAAGCTGGATAGGCCAAAATTTTGGTCATCTGCAAAGGGGAAGGCTGAGAAACCAGTGCCCAAATAGCTGGATGACTTTGGTCCTAGTTTCCACTCAACATTGTGCTGACCTGGACTTGGCTCGAACTGGCGATGGGACTCAGTCACTTGATGGTCCTCCCAGCTAAAGACCTGGAGAGCTCTGGCGAGCTGGACCTGCAGGCCCAAGGGACTTACGCTAACTGCCGCAGCAGCTCTGTGGAGCTTTTCCCACCAACACAGTTGAGAGCAAGCCATGGCTGGGGCATGTCCTGGAAAACAACAAAAGTGCAGTGAGGGAGCATCCCCGCTCTACATATGGGGTCTGAAGCTTGCCCAAGTGCTGTGTTAAAAGGAGGGAGTAAATGAGATGTTTATGCCTTTGTTTGCGTGCACGTACTTATGTATATGTGTGTGTGTTTATGCCTTTGAACTCACCTTTTTCTCTGCTTAGGAAGTGTCTTTTCTTTCTTTTTTCTTTTTCTTTCTAAGACAGGGTCTCGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCTACCTTACCCTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTGCAGATGAGTATCATGATGACCAGATAATTAAAAAAAAATGTTTTTTTGTAGAGACAGAGGTCTCACTATGTTGCTCAGGCTAGTCTCAAACTCTCAGACTCAAGCAATCCGCCTGCCTTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGTCACCTCATCCAGCCAAGAAGGGCCTTTTCTGTAGCAACTTAATCCTGTTGTCCATTTTAGGACCTGGCAGAACTCATCTTCTCTGGGAAAGAATAGGCAAAGGGCATCTGCATGCAGTTTGGTGGGTTTCAGCTCCCTGTGTGCCCCCCTTTTCAGTTCTTTGACTCAGCTGATATTATATATGCTGATCTACTGCTTCAGAAATGTTCGCAAGAAGCGCATGCTCTTGAGTGTGTGTCTTTGGTTCCTCCAGATGGTTCAGTGAAAAGGGGCTGAGGGTCTGGTCACTTACTAGGCATGTTGTGGGGTGGAGGTTCTGGAAGGTTAAGAGGCTTTGAGTTCGGAGAGACTGAGGCCAGCTCTGACTCTCTGGAGCCCTTATAAACTATATGATTTTGGTTAAGCATTTCCTCTTTTCTGAGTCTTAGTTTCCTAATCTGTAAAACAGATAACAGTTCCTTTGAAAAGCTTTTGTGGAAATCATCAGATAAAATGTAAGGCAGGTGGTTGGGAAAGGTTACTTCTTTTCTTTCTCTTTCTGTGTCTCTGTTTCCTCAGGTCCTCTCCTGCCAGTTCTAAGAGTCACACATGTGGGCTGATGCGGCCCACCACAAACGTTTAAACTGCAAGTCATACTGGGTTTCCTAAACTCTGTTTCTCATGCCTCCCTCCCAGCATCTGGGCACTTAATGCGTGCTGCCTGCCGCCTGGCTAGGGGGAATGGGCTTTAACCAACCAAGAGGCAAAGGGAGGTTTCCAGAGAGGAACAATGGGGCCAGTCCCCAGTTTCTCTAATGCATGTCAACTTTCTTCAGGGAGATGTGCGTGGACTGGAGGGGCAATGTCCCTCTTCCTAGGTACCTTAAAGAAGTTTTTCATTTCGGGCCTTCTTAGCTCCTCTTCTGTGATGACATGCTCAGCCCCCAGACTCTTCAGTCTGTCACTCAGCTTCTGGATATCAGGTCTGGAAACCAAACATAGGTCCCTGGTCACATCTGCCAGCTTTTTCCACCAAAGCCCCCCAGGACCTCTCTGCCACAGCTGGGAGAACCCGTGCTTCTTTTTGCAGGAAGCTGGGATTAGGTTTAAGCCAGGCTTGAGCAGGGACCAGCCACCTAATTTCATGCAGCTTCAATAGCTCTTGGCTGTCTCCTCACTGGCAACAGAGTGAGACTGGGTGGTTTTCACAGGCCCTGACAGCTCAATAGTGTTAGAAGCCATCTGTGCCCAGGGAGAAGTCACTTAACTTCCTGATTTCTTCTACTGAAAGGACAAACTCCACTTCCCCCCTCTTTTCAAGTGGTTCTTCAGAGTGTTGGACATACACAGTCTAGACCAGGAGTGGCTCTGGGTCTCTTTGGTTAAGGCAAATGGAATTATTTTTGCGAGTACAACTGAGGAACTGAAGCTGGTGTCGATTATACTAAGAGTGGGCTTCCATGACAGCCACAGCCACATTCATGGACAGTGAGGCCTAGAGAAACTGGACGATATGATGGAAAGAGAGTAAGTGAGGAAACCGAGTCTATTACTGACTTGC
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Task1_train_635
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Consider this mutation in MECR (mitochondrial trans-2-enoyl-CoA reductase) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
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TGAAGCGGTGTGCTCAAATGTGGGGTCAAGCCTGGCTCTCCTGCTGCCTAGACTTTGGGACAGGTACTTGACCTCTTTGGGCCTTGTTTTTTTTTGTTTGTTTGTTTTTGAGACACACTGTTTCTCTGAAGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGATGGTCTCGAATTTTTGACCTCAGGTGATCCACTTGCCTCGGCCTCCCAAAGTGCTAGGTTTACAGGCATGAGCCACTGCGCCCGGCCTGGGCCTCATTGTTTAAAAGTATAAAACAGAGGTTAGAACTGCACCCCCTGTCTAGGTGGTTGTGGGAAGGGTAAGTCAAGCGCTGCACACAGTCTGGTGCATGGTGAATACTCACCACAGTGCTCTGGCCACGTGACTCACCTGCTCATCAAGCCTGTGAATTCTCAGAGGGCACATCAGTGTCGCAGCCCTCTCTGTACCTGGTAGCTAGTAAGTGCTCAGCAAGTATGCGCTAGCTGAATCCGTACTATTGAGGGGGTTCCTGCTTTAATTAGGAAGTGTCTTTTTACACACACTCTAGCTCAAGAAGCTTTTATTTTTATTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCCCACCGCAAGCTCTGCCTCCGGGGTTCACGCCATTCTCCTGCCTCAGACTCCTGAGCAGCTGGGACTACAGGTGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGACACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGATCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACTGCGCCCGGCCTAGAAGCTTATATTAAGGGAAAGAAGAATGGAAGGACATGCATTAATATTGTCAACAGGGCTTATCCCCCTTGGTAGTGGGGTGATAGGTAACTTTTTTTTTTCTTTTTTGAGATGGAATCTCCCTTTGTCACCCAGGCTGGAGTAGAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAATGATTCTCGTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACCTGGCTAGTCTTTTTGTATTTTTAGTAGAGATGGAGTTTTGCCATGTTGGCCAGGCTGGTCTTAAACTCCTGGCCTCAAGTGATCTGCCTGTCTTGTTGGGATTACAAGCATGAACCACTATGCCTGGCCAGGTAACTTAAAAAAAAAATTAATTTTTTTTTTTGTAGTGATGGGGTCTCACTATGTTACCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATGCTTCCTCCTTGGCCTCCCAAATTACTGGGATTATAGGCATGAGCCACAGTGCCCAGCCAACAGGAAACTTTTATGCTTAAGTTTTCCTTTGCACTTTTACATGTTTTCAAAATGTTTTGTAATAAGCATAATGTTACCTTTAAAATTAGAATCTATTTTAAAAGCTAATACAAATTTTGAAAGGTTAAATAAGTTAGGACTAAGTGACTTTTTCAGACATCCCTAGGTTATAAATCCTTGACTATTCCTCTATGGCAGGCAGCTTAGCAGTCTACTTCTGGGGTCCCTTGGAAAAATAAAGCTGGATAGGCCAAAATTTTGGTCATCTGCAAAGGGGAAGGCTGAGAAACCAGTGCCCAAATAGCTGGATGACTTTGGTCCTAGTTTCCACTCAACATTGTGCTGACCTGGACTTGGCTCGAACTGGCGATGGGACTCAGTCACTTGATGGTCCTCCCAGCTAAAGACCTGGAGAGCTCTGGCGAGCTGGACCTGCAGGCCCAAGGGACTTACGCTAACTGCCGCAGCAGCTCTGTGGAGCTTTTCCCACCAACACAGTTGAGAGCAAGCCGTGGCTGGGGCATGTCCTGGAAAACAACAAAAGTGCAGTGAGGGAGCATCCCCGCTCTACATATGGGGTCTGAAGCTTGCCCAAGTGCTGTGTTAAAAGGAGGGAGTAAATGAGATGTTTATGCCTTTGTTTGCGTGCACGTACTTATGTATATGTGTGTGTGTTTATGCCTTTGAACTCACCTTTTTCTCTGCTTAGGAAGTGTCTTTTCTTTCTTTTTTCTTTTTCTTTCTAAGACAGGGTCTCGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCTACCTTACCCTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTGCAGATGAGTATCATGATGACCAGATAATTAAAAAAAAATGTTTTTTTGTAGAGACAGAGGTCTCACTATGTTGCTCAGGCTAGTCTCAAACTCTCAGACTCAAGCAATCCGCCTGCCTTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGTCACCTCATCCAGCCAAGAAGGGCCTTTTCTGTAGCAACTTAATCCTGTTGTCCATTTTAGGACCTGGCAGAACTCATCTTCTCTGGGAAAGAATAGGCAAAGGGCATCTGCATGCAGTTTGGTGGGTTTCAGCTCCCTGTGTGCCCCCCTTTTCAGTTCTTTGACTCAGCTGATATTATATATGCTGATCTACTGCTTCAGAAATGTTCGCAAGAAGCGCATGCTCTTGAGTGTGTGTCTTTGGTTCCTCCAGATGGTTCAGTGAAAAGGGGCTGAGGGTCTGGTCACTTACTAGGCATGTTGTGGGGTGGAGGTTCTGGAAGGTTAAGAGGCTTTGAGTTCGGAGAGACTGAGGCCAGCTCTGACTCTCTGGAGCCCTTATAAACTATATGATTTTGGTTAAGCATTTCCTCTTTTCTGAGTCTTAGTTTCCTAATCTGTAAAACAGATAACAGTTCCTTTGAAAAGCTTTTGTGGAAATCATCAGATAAAATGTAAGGCAGGTGGTTGGGAAAGGTTACTTCTTTTCTTTCTCTTTCTGTGTCTCTGTTTCCTCAGGTCCTCTCCTGCCAGTTCTAAGAGTCACACATGTGGGCTGATGCGGCCCACCACAAACGTTTAAACTGCAAGTCATACTGGGTTTCCTAAACTCTGTTTCTCATGCCTCCCTCCCAGCATCTGGGCACTTAATGCGTGCTGCCTGCCGCCTGGCTAGGGGGAATGGGCTTTAACCAACCAAGAGGCAAAGGGAGGTTTCCAGAGAGGAACAATGGGGCCAGTCCCCAGTTTCTCTAATGCATGTCAACTTTCTTCAGGGAGATGTGCGTGGACTGGAGGGGCAATGTCCCTCTTCCTAGGTACCTTAAAGAAGTTTTTCATTTCGGGCCTTCTTAGCTCCTCTTCTGTGATGACATGCTCAGCCCCCAGACTCTTCAGTCTGTCACTCAGCTTCTGGATATCAGGTCTGGAAACCAAACATAGGTCCCTGGTCACATCTGCCAGCTTTTTCCACCAAAGCCCCCCAGGACCTCTCTGCCACAGCTGGGAGAACCCGTGCTTCTTTTTGCAGGAAGCTGGGATTAGGTTTAAGCCAGGCTTGAGCAGGGACCAGCCACCTAATTTCATGCAGCTTCAATAGCTCTTGGCTGTCTCCTCACTGGCAACAGAGTGAGACTGGGTGGTTTTCACAGGCCCTGACAGCTCAATAGTGTTAGAAGCCATCTGTGCCCAGGGAGAAGTCACTTAACTTCCTGATTTCTTCTACTGAAAGGACAAACTCCACTTCCCCCCTCTTTTCAAGTGGTTCTTCAGAGTGTTGGACATACACAGTCTAGACCAGGAGTGGCTCTGGGTCTCTTTGGTTAAGGCAAATGGAATTATTTTTGCGAGTACAACTGAGGAACTGAAGCTGGTGTCGATTATACTAAGAGTGGGCTTCCATGACAGCCACAGCCACATTCATGGACAGTGAGGCCTAGAGAAACTGGACGATATGATGGAAAGAGAGTAAGTGAGGAAACCGAGTCTATTACTGACTTGC
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TGAAGCGGTGTGCTCAAATGTGGGGTCAAGCCTGGCTCTCCTGCTGCCTAGACTTTGGGACAGGTACTTGACCTCTTTGGGCCTTGTTTTTTTTTGTTTGTTTGTTTTTGAGACACACTGTTTCTCTGAAGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGATGGTCTCGAATTTTTGACCTCAGGTGATCCACTTGCCTCGGCCTCCCAAAGTGCTAGGTTTACAGGCATGAGCCACTGCGCCCGGCCTGGGCCTCATTGTTTAAAAGTATAAAACAGAGGTTAGAACTGCACCCCCTGTCTAGGTGGTTGTGGGAAGGGTAAGTCAAGCGCTGCACACAGTCTGGTGCATGGTGAATACTCACCACAGTGCTCTGGCCACGTGACTCACCTGCTCATCAAGCCTGTGAATTCTCAGAGGGCACATCAGTGTCGCAGCCCTCTCTGTACCTGGTAGCTAGTAAGTGCTCAGCAAGTATGCGCTAGCTGAATCCGTACTATTGAGGGGGTTCCTGCTTTAATTAGGAAGTGTCTTTTTACACACACTCTAGCTCAAGAAGCTTTTATTTTTATTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCCCACCGCAAGCTCTGCCTCCGGGGTTCACGCCATTCTCCTGCCTCAGACTCCTGAGCAGCTGGGACTACAGGTGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGACACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGATCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACTGCGCCCGGCCTAGAAGCTTATATTAAGGGAAAGAAGAATGGAAGGACATGCATTAATATTGTCAACAGGGCTTATCCCCCTTGGTAGTGGGGTGATAGGTAACTTTTTTTTTTCTTTTTTGAGATGGAATCTCCCTTTGTCACCCAGGCTGGAGTAGAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAATGATTCTCGTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACCTGGCTAGTCTTTTTGTATTTTTAGTAGAGATGGAGTTTTGCCATGTTGGCCAGGCTGGTCTTAAACTCCTGGCCTCAAGTGATCTGCCTGTCTTGTTGGGATTACAAGCATGAACCACTATGCCTGGCCAGGTAACTTAAAAAAAAAATTAATTTTTTTTTTTGTAGTGATGGGGTCTCACTATGTTACCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATGCTTCCTCCTTGGCCTCCCAAATTACTGGGATTATAGGCATGAGCCACAGTGCCCAGCCAACAGGAAACTTTTATGCTTAAGTTTTCCTTTGCACTTTTACATGTTTTCAAAATGTTTTGTAATAAGCATAATGTTACCTTTAAAATTAGAATCTATTTTAAAAGCTAATACAAATTTTGAAAGGTTAAATAAGTTAGGACTAAGTGACTTTTTCAGACATCCCTAGGTTATAAATCCTTGACTATTCCTCTATGGCAGGCAGCTTAGCAGTCTACTTCTGGGGTCCCTTGGAAAAATAAAGCTGGATAGGCCAAAATTTTGGTCATCTGCAAAGGGGAAGGCTGAGAAACCAGTGCCCAAATAGCTGGATGACTTTGGTCCTAGTTTCCACTCAACATTGTGCTGACCTGGACTTGGCTCGAACTGGCGATGGGACTCAGTCACTTGATGGTCCTCCCAGCTAAAGACCTGGAGAGCTCTGGCGAGCTGGACCTGCAGGCCCAAGGGACTTACGCTAACTGCCGCAGCAGCTCTGTGGAGCTTTTCCCACCAACACAGTTGAGAGCAAGCCATGGCTGGGGCATGTCCTGGAAAACAACAAAAGTGCAGTGAGGGAGCATCCCCGCTCTACATATGGGGTCTGAAGCTTGCCCAAGTGCTGTGTTAAAAGGAGGGAGTAAATGAGATGTTTATGCCTTTGTTTGCGTGCACGTACTTATGTATATGTGTGTGTGTTTATGCCTTTGAACTCACCTTTTTCTCTGCTTAGGAAGTGTCTTTTCTTTCTTTTTTCTTTTTCTTTCTAAGACAGGGTCTCGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCTACCTTACCCTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTGCAGATGAGTATCATGATGACCAGATAATTAAAAAAAAATGTTTTTTTGTAGAGACAGAGGTCTCACTATGTTGCTCAGGCTAGTCTCAAACTCTCAGACTCAAGCAATCCGCCTGCCTTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGTCACCTCATCCAGCCAAGAAGGGCCTTTTCTGTAGCAACTTAATCCTGTTGTCCATTTTAGGACCTGGCAGAACTCATCTTCTCTGGGAAAGAATAGGCAAAGGGCATCTGCATGCAGTTTGGTGGGTTTCAGCTCCCTGTGTGCCCCCCTTTTCAGTTCTTTGACTCAGCTGATATTATATATGCTGATCTACTGCTTCAGAAATGTTCGCAAGAAGCGCATGCTCTTGAGTGTGTGTCTTTGGTTCCTCCAGATGGTTCAGTGAAAAGGGGCTGAGGGTCTGGTCACTTACTAGGCATGTTGTGGGGTGGAGGTTCTGGAAGGTTAAGAGGCTTTGAGTTCGGAGAGACTGAGGCCAGCTCTGACTCTCTGGAGCCCTTATAAACTATATGATTTTGGTTAAGCATTTCCTCTTTTCTGAGTCTTAGTTTCCTAATCTGTAAAACAGATAACAGTTCCTTTGAAAAGCTTTTGTGGAAATCATCAGATAAAATGTAAGGCAGGTGGTTGGGAAAGGTTACTTCTTTTCTTTCTCTTTCTGTGTCTCTGTTTCCTCAGGTCCTCTCCTGCCAGTTCTAAGAGTCACACATGTGGGCTGATGCGGCCCACCACAAACGTTTAAACTGCAAGTCATACTGGGTTTCCTAAACTCTGTTTCTCATGCCTCCCTCCCAGCATCTGGGCACTTAATGCGTGCTGCCTGCCGCCTGGCTAGGGGGAATGGGCTTTAACCAACCAAGAGGCAAAGGGAGGTTTCCAGAGAGGAACAATGGGGCCAGTCCCCAGTTTCTCTAATGCATGTCAACTTTCTTCAGGGAGATGTGCGTGGACTGGAGGGGCAATGTCCCTCTTCCTAGGTACCTTAAAGAAGTTTTTCATTTCGGGCCTTCTTAGCTCCTCTTCTGTGATGACATGCTCAGCCCCCAGACTCTTCAGTCTGTCACTCAGCTTCTGGATATCAGGTCTGGAAACCAAACATAGGTCCCTGGTCACATCTGCCAGCTTTTTCCACCAAAGCCCCCCAGGACCTCTCTGCCACAGCTGGGAGAACCCGTGCTTCTTTTTGCAGGAAGCTGGGATTAGGTTTAAGCCAGGCTTGAGCAGGGACCAGCCACCTAATTTCATGCAGCTTCAATAGCTCTTGGCTGTCTCCTCACTGGCAACAGAGTGAGACTGGGTGGTTTTCACAGGCCCTGACAGCTCAATAGTGTTAGAAGCCATCTGTGCCCAGGGAGAAGTCACTTAACTTCCTGATTTCTTCTACTGAAAGGACAAACTCCACTTCCCCCCTCTTTTCAAGTGGTTCTTCAGAGTGTTGGACATACACAGTCTAGACCAGGAGTGGCTCTGGGTCTCTTTGGTTAAGGCAAATGGAATTATTTTTGCGAGTACAACTGAGGAACTGAAGCTGGTGTCGATTATACTAAGAGTGGGCTTCCATGACAGCCACAGCCACATTCATGGACAGTGAGGCCTAGAGAAACTGGACGATATGATGGAAAGAGAGTAAGTGAGGAAACCGAGTCTATTACTGACTTGC
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Task1_train_636
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This variant lies on Chromosome 1 and affects the gene MECR (mitochondrial trans-2-enoyl-CoA reductase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
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TGAAGCGGTGTGCTCAAATGTGGGGTCAAGCCTGGCTCTCCTGCTGCCTAGACTTTGGGACAGGTACTTGACCTCTTTGGGCCTTGTTTTTTTTTGTTTGTTTGTTTTTGAGACACACTGTTTCTCTGAAGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGATGGTCTCGAATTTTTGACCTCAGGTGATCCACTTGCCTCGGCCTCCCAAAGTGCTAGGTTTACAGGCATGAGCCACTGCGCCCGGCCTGGGCCTCATTGTTTAAAAGTATAAAACAGAGGTTAGAACTGCACCCCCTGTCTAGGTGGTTGTGGGAAGGGTAAGTCAAGCGCTGCACACAGTCTGGTGCATGGTGAATACTCACCACAGTGCTCTGGCCACGTGACTCACCTGCTCATCAAGCCTGTGAATTCTCAGAGGGCACATCAGTGTCGCAGCCCTCTCTGTACCTGGTAGCTAGTAAGTGCTCAGCAAGTATGCGCTAGCTGAATCCGTACTATTGAGGGGGTTCCTGCTTTAATTAGGAAGTGTCTTTTTACACACACTCTAGCTCAAGAAGCTTTTATTTTTATTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCCCACCGCAAGCTCTGCCTCCGGGGTTCACGCCATTCTCCTGCCTCAGACTCCTGAGCAGCTGGGACTACAGGTGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGACACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGATCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACTGCGCCCGGCCTAGAAGCTTATATTAAGGGAAAGAAGAATGGAAGGACATGCATTAATATTGTCAACAGGGCTTATCCCCCTTGGTAGTGGGGTGATAGGTAACTTTTTTTTTTCTTTTTTGAGATGGAATCTCCCTTTGTCACCCAGGCTGGAGTAGAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAATGATTCTCGTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACCTGGCTAGTCTTTTTGTATTTTTAGTAGAGATGGAGTTTTGCCATGTTGGCCAGGCTGGTCTTAAACTCCTGGCCTCAAGTGATCTGCCTGTCTTGTTGGGATTACAAGCATGAACCACTATGCCTGGCCAGGTAACTTAAAAAAAAAATTAATTTTTTTTTTTGTAGTGATGGGGTCTCACTATGTTACCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATGCTTCCTCCTTGGCCTCCCAAATTACTGGGATTATAGGCATGAGCCACAGTGCCCAGCCAACAGGAAACTTTTATGCTTAAGTTTTCCTTTGCACTTTTACATGTTTTCAAAATGTTTTGTAATAAGCATAATGTTACCTTTAAAATTAGAATCTATTTTAAAAGCTAATACAAATTTTGAAAGGTTAAATAAGTTAGGACTAAGTGACTTTTTCAGACATCCCTAGGTTATAAATCCTTGACTATTCCTCTATGGCAGGCAGCTTAGCAGTCTACTTCTGGGGTCCCTTGGAAAAATAAAGCTGGATAGGCCAAAATTTTGGTCATCTGCAAAGGGGAAGGCTGAGAAACCAGTGCCCAAATAGCTGGATGACTTTGGTCCTAGTTTCCACTCAACATTGTGCTGACCTGGACTTGGCTCGAACTGGCGATGGGACTCAGTCACTTGATGGTCCTCCCAGCTAAAGACCTGGAGAGCTCTGGCGAGCTGGACCTGCAGGCCCAAGGGACTTACGCTAACTGCCGCAGCAGCTCTGTGGAGCTTTTCCCACCAACACAGTTGAGAGCAAGCCGTGGCTGGGGCATGTCCTGGAAAACAACAAAAGTGCAGTGAGGGAGCATCCCCGCTCTACATATGGGGTCTGAAGCTTGCCCAAGTGCTGTGTTAAAAGGAGGGAGTAAATGAGATGTTTATGCCTTTGTTTGCGTGCACGTACTTATGTATATGTGTGTGTGTTTATGCCTTTGAACTCACCTTTTTCTCTGCTTAGGAAGTGTCTTTTCTTTCTTTTTTCTTTTTCTTTCTAAGACAGGGTCTCGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCTACCTTACCCTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTGCAGATGAGTATCATGATGACCAGATAATTAAAAAAAAATGTTTTTTTGTAGAGACAGAGGTCTCACTATGTTGCTCAGGCTAGTCTCAAACTCTCAGACTCAAGCAATCCGCCTGCCTTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGTCACCTCATCCAGCCAAGAAGGGCCTTTTCTGTAGCAACTTAATCCTGTTGTCCATTTTAGGACCTGGCAGAACTCATCTTCTCTGGGAAAGAATAGGCAAAGGGCATCTGCATGCAGTTTGGTGGGTTTCAGCTCCCTGTGTGCCCCCCTTTTCAGTTCTTTGACTCAGCTGATATTATATATGCTGATCTACTGCTTCAGAAATGTTCGCAAGAAGCGCATGCTCTTGAGTGTGTGTCTTTGGTTCCTCCAGATGGTTCAGTGAAAAGGGGCTGAGGGTCTGGTCACTTACTAGGCATGTTGTGGGGTGGAGGTTCTGGAAGGTTAAGAGGCTTTGAGTTCGGAGAGACTGAGGCCAGCTCTGACTCTCTGGAGCCCTTATAAACTATATGATTTTGGTTAAGCATTTCCTCTTTTCTGAGTCTTAGTTTCCTAATCTGTAAAACAGATAACAGTTCCTTTGAAAAGCTTTTGTGGAAATCATCAGATAAAATGTAAGGCAGGTGGTTGGGAAAGGTTACTTCTTTTCTTTCTCTTTCTGTGTCTCTGTTTCCTCAGGTCCTCTCCTGCCAGTTCTAAGAGTCACACATGTGGGCTGATGCGGCCCACCACAAACGTTTAAACTGCAAGTCATACTGGGTTTCCTAAACTCTGTTTCTCATGCCTCCCTCCCAGCATCTGGGCACTTAATGCGTGCTGCCTGCCGCCTGGCTAGGGGGAATGGGCTTTAACCAACCAAGAGGCAAAGGGAGGTTTCCAGAGAGGAACAATGGGGCCAGTCCCCAGTTTCTCTAATGCATGTCAACTTTCTTCAGGGAGATGTGCGTGGACTGGAGGGGCAATGTCCCTCTTCCTAGGTACCTTAAAGAAGTTTTTCATTTCGGGCCTTCTTAGCTCCTCTTCTGTGATGACATGCTCAGCCCCCAGACTCTTCAGTCTGTCACTCAGCTTCTGGATATCAGGTCTGGAAACCAAACATAGGTCCCTGGTCACATCTGCCAGCTTTTTCCACCAAAGCCCCCCAGGACCTCTCTGCCACAGCTGGGAGAACCCGTGCTTCTTTTTGCAGGAAGCTGGGATTAGGTTTAAGCCAGGCTTGAGCAGGGACCAGCCACCTAATTTCATGCAGCTTCAATAGCTCTTGGCTGTCTCCTCACTGGCAACAGAGTGAGACTGGGTGGTTTTCACAGGCCCTGACAGCTCAATAGTGTTAGAAGCCATCTGTGCCCAGGGAGAAGTCACTTAACTTCCTGATTTCTTCTACTGAAAGGACAAACTCCACTTCCCCCCTCTTTTCAAGTGGTTCTTCAGAGTGTTGGACATACACAGTCTAGACCAGGAGTGGCTCTGGGTCTCTTTGGTTAAGGCAAATGGAATTATTTTTGCGAGTACAACTGAGGAACTGAAGCTGGTGTCGATTATACTAAGAGTGGGCTTCCATGACAGCCACAGCCACATTCATGGACAGTGAGGCCTAGAGAAACTGGACGATATGATGGAAAGAGAGTAAGTGAGGAAACCGAGTCTATTACTGACTTGC
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TGAAGCGGTGTGCTCAAATGTGGGGTCAAGCCTGGCTCTCCTGCTGCCTAGACTTTGGGACAGGTACTTGACCTCTTTGGGCCTTGTTTTTTTTTGTTTGTTTGTTTTTGAGACACACTGTTTCTCTGAAGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGATGGTCTCGAATTTTTGACCTCAGGTGATCCACTTGCCTCGGCCTCCCAAAGTGCTAGGTTTACAGGCATGAGCCACTGCGCCCGGCCTGGGCCTCATTGTTTAAAAGTATAAAACAGAGGTTAGAACTGCACCCCCTGTCTAGGTGGTTGTGGGAAGGGTAAGTCAAGCGCTGCACACAGTCTGGTGCATGGTGAATACTCACCACAGTGCTCTGGCCACGTGACTCACCTGCTCATCAAGCCTGTGAATTCTCAGAGGGCACATCAGTGTCGCAGCCCTCTCTGTACCTGGTAGCTAGTAAGTGCTCAGCAAGTATGCGCTAGCTGAATCCGTACTATTGAGGGGGTTCCTGCTTTAATTAGGAAGTGTCTTTTTACACACACTCTAGCTCAAGAAGCTTTTATTTTTATTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCCCACCGCAAGCTCTGCCTCCGGGGTTCACGCCATTCTCCTGCCTCAGACTCCTGAGCAGCTGGGACTACAGGTGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGACACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGATCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACTGCGCCCGGCCTAGAAGCTTATATTAAGGGAAAGAAGAATGGAAGGACATGCATTAATATTGTCAACAGGGCTTATCCCCCTTGGTAGTGGGGTGATAGGTAACTTTTTTTTTTCTTTTTTGAGATGGAATCTCCCTTTGTCACCCAGGCTGGAGTAGAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAATGATTCTCGTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACCTGGCTAGTCTTTTTGTATTTTTAGTAGAGATGGAGTTTTGCCATGTTGGCCAGGCTGGTCTTAAACTCCTGGCCTCAAGTGATCTGCCTGTCTTGTTGGGATTACAAGCATGAACCACTATGCCTGGCCAGGTAACTTAAAAAAAAAATTAATTTTTTTTTTTGTAGTGATGGGGTCTCACTATGTTACCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATGCTTCCTCCTTGGCCTCCCAAATTACTGGGATTATAGGCATGAGCCACAGTGCCCAGCCAACAGGAAACTTTTATGCTTAAGTTTTCCTTTGCACTTTTACATGTTTTCAAAATGTTTTGTAATAAGCATAATGTTACCTTTAAAATTAGAATCTATTTTAAAAGCTAATACAAATTTTGAAAGGTTAAATAAGTTAGGACTAAGTGACTTTTTCAGACATCCCTAGGTTATAAATCCTTGACTATTCCTCTATGGCAGGCAGCTTAGCAGTCTACTTCTGGGGTCCCTTGGAAAAATAAAGCTGGATAGGCCAAAATTTTGGTCATCTGCAAAGGGGAAGGCTGAGAAACCAGTGCCCAAATAGCTGGATGACTTTGGTCCTAGTTTCCACTCAACATTGTGCTGACCTGGACTTGGCTCGAACTGGCGATGGGACTCAGTCACTTGATGGTCCTCCCAGCTAAAGACCTGGAGAGCTCTGGCGAGCTGGACCTGCAGGCCCAAGGGACTTACGCTAACTGCCGCAGCAGCTCTGTGGAGCTTTTCCCACCAACACAGTTGAGAGCAAGCCATGGCTGGGGCATGTCCTGGAAAACAACAAAAGTGCAGTGAGGGAGCATCCCCGCTCTACATATGGGGTCTGAAGCTTGCCCAAGTGCTGTGTTAAAAGGAGGGAGTAAATGAGATGTTTATGCCTTTGTTTGCGTGCACGTACTTATGTATATGTGTGTGTGTTTATGCCTTTGAACTCACCTTTTTCTCTGCTTAGGAAGTGTCTTTTCTTTCTTTTTTCTTTTTCTTTCTAAGACAGGGTCTCGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCTACCTTACCCTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTGCAGATGAGTATCATGATGACCAGATAATTAAAAAAAAATGTTTTTTTGTAGAGACAGAGGTCTCACTATGTTGCTCAGGCTAGTCTCAAACTCTCAGACTCAAGCAATCCGCCTGCCTTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGTCACCTCATCCAGCCAAGAAGGGCCTTTTCTGTAGCAACTTAATCCTGTTGTCCATTTTAGGACCTGGCAGAACTCATCTTCTCTGGGAAAGAATAGGCAAAGGGCATCTGCATGCAGTTTGGTGGGTTTCAGCTCCCTGTGTGCCCCCCTTTTCAGTTCTTTGACTCAGCTGATATTATATATGCTGATCTACTGCTTCAGAAATGTTCGCAAGAAGCGCATGCTCTTGAGTGTGTGTCTTTGGTTCCTCCAGATGGTTCAGTGAAAAGGGGCTGAGGGTCTGGTCACTTACTAGGCATGTTGTGGGGTGGAGGTTCTGGAAGGTTAAGAGGCTTTGAGTTCGGAGAGACTGAGGCCAGCTCTGACTCTCTGGAGCCCTTATAAACTATATGATTTTGGTTAAGCATTTCCTCTTTTCTGAGTCTTAGTTTCCTAATCTGTAAAACAGATAACAGTTCCTTTGAAAAGCTTTTGTGGAAATCATCAGATAAAATGTAAGGCAGGTGGTTGGGAAAGGTTACTTCTTTTCTTTCTCTTTCTGTGTCTCTGTTTCCTCAGGTCCTCTCCTGCCAGTTCTAAGAGTCACACATGTGGGCTGATGCGGCCCACCACAAACGTTTAAACTGCAAGTCATACTGGGTTTCCTAAACTCTGTTTCTCATGCCTCCCTCCCAGCATCTGGGCACTTAATGCGTGCTGCCTGCCGCCTGGCTAGGGGGAATGGGCTTTAACCAACCAAGAGGCAAAGGGAGGTTTCCAGAGAGGAACAATGGGGCCAGTCCCCAGTTTCTCTAATGCATGTCAACTTTCTTCAGGGAGATGTGCGTGGACTGGAGGGGCAATGTCCCTCTTCCTAGGTACCTTAAAGAAGTTTTTCATTTCGGGCCTTCTTAGCTCCTCTTCTGTGATGACATGCTCAGCCCCCAGACTCTTCAGTCTGTCACTCAGCTTCTGGATATCAGGTCTGGAAACCAAACATAGGTCCCTGGTCACATCTGCCAGCTTTTTCCACCAAAGCCCCCCAGGACCTCTCTGCCACAGCTGGGAGAACCCGTGCTTCTTTTTGCAGGAAGCTGGGATTAGGTTTAAGCCAGGCTTGAGCAGGGACCAGCCACCTAATTTCATGCAGCTTCAATAGCTCTTGGCTGTCTCCTCACTGGCAACAGAGTGAGACTGGGTGGTTTTCACAGGCCCTGACAGCTCAATAGTGTTAGAAGCCATCTGTGCCCAGGGAGAAGTCACTTAACTTCCTGATTTCTTCTACTGAAAGGACAAACTCCACTTCCCCCCTCTTTTCAAGTGGTTCTTCAGAGTGTTGGACATACACAGTCTAGACCAGGAGTGGCTCTGGGTCTCTTTGGTTAAGGCAAATGGAATTATTTTTGCGAGTACAACTGAGGAACTGAAGCTGGTGTCGATTATACTAAGAGTGGGCTTCCATGACAGCCACAGCCACATTCATGGACAGTGAGGCCTAGAGAAACTGGACGATATGATGGAAAGAGAGTAAGTGAGGAAACCGAGTCTATTACTGACTTGC
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Task1_train_637
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This genomic variant is located on Chromosome 1, within the LCK (LCK proto-oncogene, Src family tyrosine kinase) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Severe combined immunodeficiency due to LCK deficiency
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GGCTCACCAGAAATAATACAGAGTATTCATCAAGGCCTCTAGAGTCTGACTGCCTGGGTCAGAAGCCTGGCTTCATGATTTTATGGCTTTGTGATAATTATATCACCTCTTTCTGCCATGGTTTCCTACTATAATAACGCGTTAGTAACTTCCTCACAGGGTCTTGTGAGGATGAAATAATTAATGCATACAGAGCAGTTAGAACTATGCCTACTTCCAGGTGCTGTGGCTCAAGCCTATAACTCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCCCAGAAGTTCAAGACCAGTCTGTGCAACATAGCGAGACTTCATTCCTACAAAAAAATGTTTAAAAATTAGCTGGGCATAGTGGTGTATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGGTTGAGGCTGCACTGAGCTGTGATTGCACCACTGCACTCCAACCTGGGTAACAGAGCGAGACCTTGTCTCAAAACAAAAAACCCACAAAACTATGGCTACCATATAGTAACTGATCAATAAGTTTGTTGCTGTTATCTGGCTCTGATTCTTTGGGAGTGTAAGATCTATCCTTTTTTCAGGAAGAGAAACAAGCTGTTCATTGGCTAATGGGAAATGGCAAATAGATTATGTCATGTGTATCTTTTTTTTTTTTGAGTCTCACTCTGTCCTCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTTCAGCCTCCCCCTCCTGGGTTCAAATGATTCTCATGCCTCAGTCTCCCAAGTAGCTGGGACTACAAGCATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTCGCCTTGTTGGCTAGGCTGGTCTCGATCTCCTGTCCTCAGGTGATCCTCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCATGCCCAGCCTATCATGTGTATCGACTTTGATTGGTAGTTGCTTGTAGTGCTGGAGAAGGATTCTGAGGTTCATTGGAAGTGAGTGCCAGGAATGATTAGTAACATCTGCCATGGATACAATGGAAGAATGGCAGTATATCTATGTCTATGTATTTGCTGTGTGTAGGTGAGGTCTTTGTCTTTGGTAACTAGTTCAGCACTCAAAGTGGGGACACTCAGGTTGCTGTCATCCTTTTACAGGGTTTTAATCTCTTGGGAAGGGCCATTGGTCACTCACTGCATCCTAGCAACTCCCATCCATGTCCAGCTGCCCTCCACTATTAGAGAGGTGGTCCCTCAGACCCCCAGACCCCCTCTTTCTTATTCCATCCAATATATTCAGCACATAGTTATTGTTTCTTACTCTCGGCTGGGCACCAGGAACATGGATGGATGAAACAAGGTTCCTGTTGTCAGGGAAACCTGATTTTAGTTACAGCTACTGGGGAAACCAGAGTTTGTGCCATGGGAAAGTTCCAGCATGCCCATGGGAGTGTAGATGATGATCCAGTTTATTATGCCTGGTAGGATCTAGAGAGGCTTCCTAGTGGGGCAGTCTAGCAGGGCCACGAAAGAAAAGTAGAATTTTTTTTAGCAGGCAGAGATGAAACAAAGAGGCTTTGGGGTGAGAGCCTAGTGGTCTGAGTGCAGGATCTCAAAATTGCTAAACTGTTTGAAGTCAAAGGCAGAGTGGGGGAAAGAGAAGAAGCTACCAGTGTGGACCATGCCAAGCTTAGGATACTAGTTGAGGATTCTAGGTTCTACCTTATTGGTGATGAAAAACCTACAGATCCCTCCCAGCATGCTCTACCCTAGCCCCTCTGCAAAAAAACCTTTACATATCCTGGGCATCCTTACCCTGAACACACACTCCTCCATTCTCACTCTTCAATCTTCCTTTTCACATGTCAGACACACTTCTAGACTCCCAGTTGGAGGAGAAAGGTCTGGGGGCCTCCCCCTGGGGCAACTTGGGCCAGCAACTCTTGCTTCTGCCCACAGGGAGTCTAGTGGATTTTCTCAAGACCCCTTCAGGCATCAAGTTGACCATCAACAAACTCCTGGACATGGCAGCCCAAGTAAGGAGACTGGGGAGGGGGGCTGGGCAAGGGAACAGACCAGTGACGTGAAGACATCTGGCTCAGGACCGCTGATCTGTGTTTGGCCTGCAGATTGCAGAAGGCATGGCATTCATTGAAGAGCGGAATTATATTCATCGTGACCTTCGGGCTGCCAACATTCTGGTGTCTGACACCCTGAGCTGCAAGATTGCAGACTTTGGCCTAGCACGCCTCATTGAGGACAACGAGTACACAGCCAGGGAGGGTACGTGTGAGATTTAAGGGTGGTCTGGGCCCTGCAGGGTCTGGCCAAGCAGACCCAGGTGACCTCACTCTGCCTCCTCCTTAGGGGCCAAGTTTCCCATTAAGTGGACAGCGCCAGAAGCCATTAACTACGGGACATTCACCATCAAGTCAGATGTGTGGTCTTTTGGGATCCTGCTGACGGAAATTGTCACCCACGGCCGCATCCCTTACCCAGGTTAGAGCCAAGGGCAGGAACTGAAAGGGTGATGGGAAGGGCAAGTCCATGTCTTCCCATTCAATTCTTTCCAGTCTCAGAATCTGAAACTTTGTAGCTGCATCTCCTCTATCTTCTCAGGGGTATGAGTCCAACGTCCCCAGGCAGATGCCACATCTCCCAGGGCTGGCTTCCATCTCCGTATCTCTCTTTAATAACCCCAGCTCTTTTCTTTTTCTCTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCTCCCAGGCTGGGGTGCAGTGGCGCCATCTTGGATCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAATAGCTAGGATTACAGGTACGTGCCACCATGCGCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGCCTCAATCTCCTGACCTCGTGATTGGCCTGCCTCGGCCTCCCAGTGTTGGGATTACAGGCGTGAGCCACCACACCCGGCCCCAGCTCTTTTCTTTAGTTCTGGCCCAGGCAGCCTGGTATGGTAGAAGAAGATCTAGCTCAGGAACAAGAGGCCTACCTTTTATCAGCAGATCTGCCACTGTTGCTAACTTTCTGTTTGGCTTTGTTCAGATCATTACTGTAACTAGTGAAGCTAGTCACTTCACTTCTCTAAGCCTCAGTTTCCTGATACTAAAAATAAGAGACTAGGCCAGGTACAGTGGCTTATGCCTATAATCTCAGAACTTTGGGAGACCAAGGTGGGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGAAACTGGTCGAAACCCCATCTCTACAAAAACAAAAGTTAGCCAGGTTTGGTGGCATGTGCCTCTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGGATCACCTGAGCCAGGGAGGCAGAGGTTGCAGTGAGCCAAGACCATGCCATAACACTCCAGCCTAGGGCAATAGACCAAGACCCTGTCTCAAAACAAGAAAAAGAGAGACTCCATCTCTACAAAAAAAAAAAAACAAACAAACAAAAAAAACATTTAAAAATTAGCTGGGCATGGTGGCACACACCCGTAGTTTCAGCTATTTGGGAGGCTGAGGTGGGAGGATCATTTGAGCCCAGGAGGTTGAGGGTGCAGTGAGCCATGATTGTTCTATTGCACTCCAGCCTGAGCAACAGAGAGAGAATTTGTCTCAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAAGAAAAAATGAGAGACCATTTGTGAAAGAGCCTGACTCATAGTAGGTTGTCAGTATACACTGACTCCTCCCACCATCTCCTGGACAAAGCCCTTTACCCCTGAATTCAGCCAAGACAGGGATGGAATTTTTGAAAGGAACTTGCTAAGAAACTCTGGGGAAAGGAAATGGAGCATAAAGACAGGAGTAGGGGGGTCATGCGGCACAGTGGCTAGATTTGTAGAAGCTTCCCATATCCCCAGAGCAAGGTGAACAGACCTTTGCTCCAAGGAAGGTAAAGACAC
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GGCTCACCAGAAATAATACAGAGTATTCATCAAGGCCTCTAGAGTCTGACTGCCTGGGTCAGAAGCCTGGCTTCATGATTTTATGGCTTTGTGATAATTATATCACCTCTTTCTGCCATGGTTTCCTACTATAATAACGCGTTAGTAACTTCCTCACAGGGTCTTGTGAGGATGAAATAATTAATGCATACAGAGCAGTTAGAACTATGCCTACTTCCAGGTGCTGTGGCTCAAGCCTATAACTCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCCCAGAAGTTCAAGACCAGTCTGTGCAACATAGCGAGACTTCATTCCTACAAAAAAATGTTTAAAAATTAGCTGGGCATAGTGGTGTATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGGTTGAGGCTGCACTGAGCTGTGATTGCACCACTGCACTCCAACCTGGGTAACAGAGCGAGACCTTGTCTCAAAACAAAAAACCCACAAAACTATGGCTACCATATAGTAACTGATCAATAAGTTTGTTGCTGTTATCTGGCTCTGATTCTTTGGGAGTGTAAGATCTATCCTTTTTTCAGGAAGAGAAACAAGCTGTTCATTGGCTAATGGGAAATGGCAAATAGATTATGTCATGTGTATCTTTTTTTTTTTTGAGTCTCACTCTGTCCTCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTTCAGCCTCCCCCTCCTGGGTTCAAATGATTCTCATGCCTCAGTCTCCCAAGTAGCTGGGACTACAAGCATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTCGCCTTGTTGGCTAGGCTGGTCTCGATCTCCTGTCCTCAGGTGATCCTCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCATGCCCAGCCTATCATGTGTATCGACTTTGATTGGTAGTTGCTTGTAGTGCTGGAGAAGGATTCTGAGGTTCATTGGAAGTGAGTGCCAGGAATGATTAGTAACATCTGCCATGGATACAATGGAAGAATGGCAGTATATCTATGTCTATGTATTTGCTGTGTGTAGGTGAGGTCTTTGTCTTTGGTAACTAGTTCAGCACTCAAAGTGGGGACACTCAGGTTGCTGTCATCCTTTTACAGGGTTTTAATCTCTTGGGAAGGGCCATTGGTCACTCACTGCATCCTAGCAACTCCCATCCATGTCCAGCTGCCCTCCACTATTAGAGAGGTGGTCCCTCAGACCCCCAGACCCCCTCTTTCTTATTCCATCCAATATATTCAGCACATAGTTATTGTTTCTTACTCTCGGCTGGGCACCAGGAACATGGATGGATGAAACAAGGTTCCTGTTGTCAGGGAAACCTGATTTTAGTTACAGCTACTGGGGAAACCAGAGTTTGTGCCATGGGAAAGTTCCAGCATGCCCATGGGAGTGTAGATGATGATCCAGTTTATTATGCCTGGTAGGATCTAGAGAGGCTTCCTAGTGGGGCAGTCTAGCAGGGCCACGAAAGAAAAGTAGAATTTTTTTTAGCAGGCAGAGATGAAACAAAGAGGCTTTGGGGTGAGAGCCTAGTGGTCTGAGTGCAGGATCTCAAAATTGCTAAACTGTTTGAAGTCAAAGGCAGAGTGGGGGAAAGAGAAGAAGCTACCAGTGTGGACCATGCCAAGCTTAGGATACTAGTTGAGGATTCTAGGTTCTACCTTATTGGTGATGAAAAACCTACAGATCCCTCCCAGCATGCTCTACCCTAGCCCCTCTGCAAAAAAACCTTTACATATCCTGGGCATCCTTACCCTGAACACACACTCCTCCATTCTCACTCTTCAATCTTCCTTTTCACATGTCAGACACACTTCTAGACTCCCAGTTGGAGGAGAAAGGTCTGGGGGCCTCCCCCTGGGGCAACTTGGGCCAGCAACTCTTGCTTCTGCCCACAGGGAGTCTAGTGGATTTTCTCAAGACCCCTTCAGGCATCAAGTTGACCATCAACAAACCCCTGGACATGGCAGCCCAAGTAAGGAGACTGGGGAGGGGGGCTGGGCAAGGGAACAGACCAGTGACGTGAAGACATCTGGCTCAGGACCGCTGATCTGTGTTTGGCCTGCAGATTGCAGAAGGCATGGCATTCATTGAAGAGCGGAATTATATTCATCGTGACCTTCGGGCTGCCAACATTCTGGTGTCTGACACCCTGAGCTGCAAGATTGCAGACTTTGGCCTAGCACGCCTCATTGAGGACAACGAGTACACAGCCAGGGAGGGTACGTGTGAGATTTAAGGGTGGTCTGGGCCCTGCAGGGTCTGGCCAAGCAGACCCAGGTGACCTCACTCTGCCTCCTCCTTAGGGGCCAAGTTTCCCATTAAGTGGACAGCGCCAGAAGCCATTAACTACGGGACATTCACCATCAAGTCAGATGTGTGGTCTTTTGGGATCCTGCTGACGGAAATTGTCACCCACGGCCGCATCCCTTACCCAGGTTAGAGCCAAGGGCAGGAACTGAAAGGGTGATGGGAAGGGCAAGTCCATGTCTTCCCATTCAATTCTTTCCAGTCTCAGAATCTGAAACTTTGTAGCTGCATCTCCTCTATCTTCTCAGGGGTATGAGTCCAACGTCCCCAGGCAGATGCCACATCTCCCAGGGCTGGCTTCCATCTCCGTATCTCTCTTTAATAACCCCAGCTCTTTTCTTTTTCTCTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCTCCCAGGCTGGGGTGCAGTGGCGCCATCTTGGATCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAATAGCTAGGATTACAGGTACGTGCCACCATGCGCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGCCTCAATCTCCTGACCTCGTGATTGGCCTGCCTCGGCCTCCCAGTGTTGGGATTACAGGCGTGAGCCACCACACCCGGCCCCAGCTCTTTTCTTTAGTTCTGGCCCAGGCAGCCTGGTATGGTAGAAGAAGATCTAGCTCAGGAACAAGAGGCCTACCTTTTATCAGCAGATCTGCCACTGTTGCTAACTTTCTGTTTGGCTTTGTTCAGATCATTACTGTAACTAGTGAAGCTAGTCACTTCACTTCTCTAAGCCTCAGTTTCCTGATACTAAAAATAAGAGACTAGGCCAGGTACAGTGGCTTATGCCTATAATCTCAGAACTTTGGGAGACCAAGGTGGGAGGACTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGAAACTGGTCGAAACCCCATCTCTACAAAAACAAAAGTTAGCCAGGTTTGGTGGCATGTGCCTCTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGGATCACCTGAGCCAGGGAGGCAGAGGTTGCAGTGAGCCAAGACCATGCCATAACACTCCAGCCTAGGGCAATAGACCAAGACCCTGTCTCAAAACAAGAAAAAGAGAGACTCCATCTCTACAAAAAAAAAAAAACAAACAAACAAAAAAAACATTTAAAAATTAGCTGGGCATGGTGGCACACACCCGTAGTTTCAGCTATTTGGGAGGCTGAGGTGGGAGGATCATTTGAGCCCAGGAGGTTGAGGGTGCAGTGAGCCATGATTGTTCTATTGCACTCCAGCCTGAGCAACAGAGAGAGAATTTGTCTCAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAAGAAAAAATGAGAGACCATTTGTGAAAGAGCCTGACTCATAGTAGGTTGTCAGTATACACTGACTCCTCCCACCATCTCCTGGACAAAGCCCTTTACCCCTGAATTCAGCCAAGACAGGGATGGAATTTTTGAAAGGAACTTGCTAAGAAACTCTGGGGAAAGGAAATGGAGCATAAAGACAGGAGTAGGGGGGTCATGCGGCACAGTGGCTAGATTTGTAGAAGCTTCCCATATCCCCAGAGCAAGGTGAACAGACCTTTGCTCCAAGGAAGGTAAAGACAC
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Task1_train_638
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Gene YARS1 (tyrosyl-tRNA synthetase 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
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CAAGGATGGGAAGCCACAGGTGCATTTTACTCAAGTCTTCTCTAGTCAATGAGGGGCACCCAGTGCTTCTAGGGCAGGCTGGGTGGTGGTCCCCTAGGTATCAGCCTCTCTTACTGTACTCTCCGGGAATGTTAACCTTTCTATTTTCAGCCTGTGCCACCTGTCTAGGCAAGCTGGCTTCCCCATTGGCCCCTGTGGGTCCACAGCAGCGTGGCTGCCCCCCAGGGCCACCGCTTCTTTCTTGATCCTCTTTCCTTAACAGTGACTTGGGCTTGAGTCTGGCAAGGAACCTTGCTTTTAGCTTCACCACCAAGGAGAGAGGTTGACATGACCTCCCCGCCCCCTCACCAAGGCTGGGAACAGAGGGGATGTGGTGAGAGCCAGGTTCCTCTGGCCCTCTCCAGGGTGTTTTCCACTAGTCACTACTGTCTTCTCCTTGTAGCTAATCAATCAATATTCTTCCCTTGCCTGTGGGCAGTGGAGAGTGCTGCTGGGTGTACGCTGCACCTGCCCACTGAGTTGGGGAAAGAGGATAATCAGTGAGCACTGTTCTGCTCAGAGCTCCTGATCTACCCCACCCCCTAGGATCCAGGACTGGGTCAAAGCTGCATGAAACCAGGCCCTGGCAGCAACCTGGGAATGGCTGGAGGTGGGAGAGAACCTGACTTCTCTTTCCCTCTCCCTCCTCCAACATTACTGGAACTCTATCCTGTTAGGATCTTCTGAGCTTGTTTCCCTGCTGGGTGGGACAGAGGACAAAGGAGAAGGGAGGGTCTAGAAGAGGCAGCCCTTCTTTGTCCTCTGGGGTAAATGAGCTTGACCTAGAGTAAATGGAGAGACCAAAAGCCTCTGATTTTTAATTTCCATAAAATGTTAGAAGTATATATATACATATATATATTTCTTTAAATTTTTGAGTCTTTGATATGTCTAAAAATCCATTCCCTCTGCCCTGAAGCCTGAGTGAGACACATGAAGAAAACTGTGTTTCATTTAAAGATGTTAATTAAATGATTGAAACTTGGCTGTGGCTACTGCTTCTTAATGTGGGGGGGACAGGGCAGTGGTCTGGGCCCACATTTAGAAGGGAAAATGTTTTGCCTGCTGCACACATTGGACCCAAGTATGGGCCTCTTCTGCCTAGTACTGCCAAAGGGACTGTTAAGGTGTCTTGTCCATCTTCTACCCCCCACCCCCCATTACAGGGTAAAGGAACCCCAGACTAGGTGAGGGGCCAGCAGCTGCCTCACACTTGTGTTCTCTCCTGAGATGGTCCAGCTCACATCCAGACACCCTTGTTCAGACATTTTATTTGAATTTATGACAGTGATGGGGATTTGACTGAGATGCCTTATGGAGAAGTACCCCACCCTCTATGAAGACAGAATCACTCTCTGCCATTCATTCTGCCTGATGCTAACAACACGCAGCTGATTTAGGGAGTGTCCCAGCCTAGCTGGATCAAGGGAAATTCCAGGAGCCCTGGGGCAGGCCCTGGCCCCCAGTGCCAAGCCTCAGAGTAAGCAGACATTGGGAAAGTTGCCAACCACTTGGTAGACCACTAGGTTCTCTGTTTTCCCTTCCCTTTCCTTTTCAAATCCCACAGTTTCCTGTTGGGGAGAAGCTGTAATTAGCCTAGTCCAGGTACCAGATCCCAGCTAGGGGCGCAGCTGCTTGGATAACTCCAAGAAAACCTGGGCACCAGTATTTTTCCAATTATAAGGACTGTGGCATAAATTTTTAAATGAGTTATATTGAAACCAGATTTCTCCAGCTGCCAAGGGAAGAAGGTAGGGCTGGACTCCCTGCTGTGGCCCAGCCCTTGTTAGGGGTTGGTCTCTCACTGCAGCCAGACAGGATGATCCTGGGTTCTGGGGAGGGTAAGCTGCCCCTTGCCGAGTTCTGCACCGAATAAAGAGTCCAAACCCGCTGCTTCCGTGTCCTGAGAGATGGGTAAATGGGTGATGGATGGAGCAGACTGAAGAGACAGCAGATGACTCAGTGGTGGAAGAAGGGGGGAAGATGCTGGGCTGGCTAGCTAATGTTCCCCCCTTTCAGCGATTTACAGGAAATGGAGCCCAGCTTGGTCATGAAGTTGGTTTGCTTCCACTGTGCGATGCACTCCTCAGAAATTTTGAAGTCAGCCTGGACAAGACAGATAAGAGAGATTTTAATGATGGTGGTGGGACTGCAAGAAAACCCCCCCTTTTTTGGAGGGGGGGCAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTGAGCCTTCCGAGTAGCTGGGACTACAGGCATGCACCACCACGCCCGACTAATTTTGTACTTTTAGTAGACACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTGAAAACTCTCTTATATACCAGTAGGGTAAGGTAAGCTGGCTCAGCTTTTCTAAGAAATGTTTGTCAAAAGCTTTCACATTCATCTTTTGACTCAAGTAAGTTCATTTTAGGGAGTTAGTTTAAGAAAATAAACCTAAGTGCAAAGGCTTATGCATGAAGACATCTGTCACATCTGTCACATCATTCTAACAGTGAAAAACCAAATAACCTCAATGTCTAATAAGAGTTTAGTTAGATTGCCGGGCGTGGTGGCTCACACCTATAATCCCAGCATTTCGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAATACAGTGAAACCCCGTCTCTACTAAAATTACAAAAAATTAGCCGGGTGTGGTGGTGGGGCGCCTGTAGTCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCACTTGAACCTGAGAGGAGGAGGTTGTGGCGGGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCCAAAAAAAAAGAGCTTAGTTAGATTTTGATAATTATGGTAGAATACTATACAGTGCAACCCCTCAATTTTTTTTTTTTTTGGGATGGAGTTTTGCTCTCATTGCCCAGGCTGGAGTGCAATAGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTAAGCGTCTTAAGTAGCTGGGATTACAGGCATACGCCACTGTGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCTATGTTGGTCAGGCTGGTCTCGAACTCCCGCCCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGAGAAATCATGGCCAGGAGGCTTGGAACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGTGGGTGGAACATGAAGTTAGGAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGCTGGATGTGGTCGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCTTGGGCGACAGAGCAAGACTCCATCTTGGAAAAATAAATAAATAAATAAAATAAAAATCATGGTCAGGTACAGTAGCTCATGCCTATAATTCCAGTGCTTTGCAAGGCTGAGGCGGGAGAATCACTTGAGTCCAGGAGGTTTACAGGCTTGAGGTTACAGGGAGCTATGATGGCACCACTGGAATCCAGCTTGGGTGACAAGAGTGAGACCCTGTTTCTAATTAATCAACAGCATTTAGTATGACTTAAACCATAAACGTATTATCACTCCAAGCATAGCAAAAGACCAGAAGGAAATAATCACTAATAACATTCTTTAATATCTCTATGTGGCAGGACTAGGATTTTTTTTTCTCCTATATTTTAGATGTTTTCTACCATGAAAATTTATTTTATAGCCAGAAAAAAAGAGATTCACAAAGTCAGCCTAGAAAACCAGGAAAGGAGGGAGTGGGCAAA
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CAAGGATGGGAAGCCACAGGTGCATTTTACTCAAGTCTTCTCTAGTCAATGAGGGGCACCCAGTGCTTCTAGGGCAGGCTGGGTGGTGGTCCCCTAGGTATCAGCCTCTCTTACTGTACTCTCCGGGAATGTTAACCTTTCTATTTTCAGCCTGTGCCACCTGTCTAGGCAAGCTGGCTTCCCCATTGGCCCCTGTGGGTCCACAGCAGCGTGGCTGCCCCCCAGGGCCACCGCTTCTTTCTTGATCCTCTTTCCTTAACAGTGACTTGGGCTTGAGTCTGGCAAGGAACCTTGCTTTTAGCTTCACCACCAAGGAGAGAGGTTGACATGACCTCCCCGCCCCCTCACCAAGGCTGGGAACAGAGGGGATGTGGTGAGAGCCAGGTTCCTCTGGCCCTCTCCAGGGTGTTTTCCACTAGTCACTACTGTCTTCTCCTTGTAGCTAATCAATCAATATTCTTCCCTTGCCTGTGGGCAGTGGAGAGTGCTGCTGGGTGTACGCTGCACCTGCCCACTGAGTTGGGGAAAGAGGATAATCAGTGAGCACTGTTCTGCTCAGAGCTCCTGATCTACCCCACCCCCTAGGATCCAGGACTGGGTCAAAGCTGCATGAAACCAGGCCCTGGCAGCAACCTGGGAATGGCTGGAGGTGGGAGAGAACCTGACTTCTCTTTCCCTCTCCCTCCTCCAACATTACTGGAACTCTATCCTGTTAGGATCTTCTGAGCTTGTTTCCCTGCTGGGTGGGACAGAGGACAAAGGAGAAGGGAGGGTCTAGAAGAGGCAGCCCTTCTTTGTCCTCTGGGGTAAATGAGCTTGACCTAGAGTAAATGGAGAGACCAAAAGCCTCTGATTTTTAATTTCCATAAAATGTTAGAAGTATATATATACATATATATATTTCTTTAAATTTTTGAGTCTTTGATATGTCTAAAAATCCATTCCCTCTGCCCTGAAGCCTGAGTGAGACACATGAAGAAAACTGTGTTTCATTTAAAGATGTTAATTAAATGATTGAAACTTGGCTGTGGCTACTGCTTCTTAATGTGGGGGGGACAGGGCAGTGGTCTGGGCCCACATTTAGAAGGGAAAATGTTTTGCCTGCTGCACACATTGGACCCAAGTATGGGCCTCTTCTGCCTAGTACTGCCAAAGGGACTGTTAAGGTGTCTTGTCCATCTTCTACCCCCCACCCCCCATTACAGGGTAAAGGAACCCCAGACTAGGTGAGGGGCCAGCAGCTGCCTCACACTTGTGTTCTCTCCTGAGATGGTCCAGCTCACATCCAGACACCCTTGTTCAGACATTTTATTTGAATTTATGACAGTGATGGGGATTTGACTGAGATGCCTTATGGAGAAGTACCCCACCCTCTATGAAGACAGAATCACTCTCTGCCATTCATTCTGCCTGATGCTAACAACACGCAGCTGATTTAGGGAGTGTCCCAGCCTAGCTGGATCAAGGGAAATTCCAGGAGCCCTGGGGCAGGCCCTGGCCCCCAGTGCCAAGCCTCAGAGTAAGCAGACATTGGGAAAGTTGCCAACCACTTGGTAGACCACTAGGTTCTCTGTTTTCCCTTCCCTTTCCTTTTCAAATCCCACAGTTTCCTGTTGGGGAGAAGCTGTAATTAGCCTAGTCCAGGTACCAGATCCCAGCTAGGGGCGCAGCTGCTTGGATAACTCCAAGAAAACCTGGGCACCAGTATTTTTCCAATTATAAGGACTGTGGCATAAATTTTTAAATGAGTTATATTGAAACCAGATTTCTCCAGCTGCCAAGGGAAGAAGGTAGGGCTGGACTCCCTGCTGTGGCCCAGCCCTTGTTAGGGGTTGGTCTCTCACTGCAGCCAGACAGGATGATCCTGGGTTCTGGGGAGGGTAAGCTGCCCCTTGCCGAGTTCTGCACCGAATAAAGAGTCCAAACCCGCTGCTTCCGTGTCCTGAGAGATGGGTAAATGGGTGATGGATGGAGCAGACTGAAGAGACAGCAGATGACTCAGTGGTGGAAGAAGGGGGGAAGATGCTGGGCTGGCTAGCTAATGTTCCTCCCTTTCAGCGATTTACAGGAAATGGAGCCCAGCTTGGTCATGAAGTTGGTTTGCTTCCACTGTGCGATGCACTCCTCAGAAATTTTGAAGTCAGCCTGGACAAGACAGATAAGAGAGATTTTAATGATGGTGGTGGGACTGCAAGAAAACCCCCCCTTTTTTGGAGGGGGGGCAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTGAGCCTTCCGAGTAGCTGGGACTACAGGCATGCACCACCACGCCCGACTAATTTTGTACTTTTAGTAGACACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTGAAAACTCTCTTATATACCAGTAGGGTAAGGTAAGCTGGCTCAGCTTTTCTAAGAAATGTTTGTCAAAAGCTTTCACATTCATCTTTTGACTCAAGTAAGTTCATTTTAGGGAGTTAGTTTAAGAAAATAAACCTAAGTGCAAAGGCTTATGCATGAAGACATCTGTCACATCTGTCACATCATTCTAACAGTGAAAAACCAAATAACCTCAATGTCTAATAAGAGTTTAGTTAGATTGCCGGGCGTGGTGGCTCACACCTATAATCCCAGCATTTCGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAATACAGTGAAACCCCGTCTCTACTAAAATTACAAAAAATTAGCCGGGTGTGGTGGTGGGGCGCCTGTAGTCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCACTTGAACCTGAGAGGAGGAGGTTGTGGCGGGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCCAAAAAAAAAGAGCTTAGTTAGATTTTGATAATTATGGTAGAATACTATACAGTGCAACCCCTCAATTTTTTTTTTTTTTGGGATGGAGTTTTGCTCTCATTGCCCAGGCTGGAGTGCAATAGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTAAGCGTCTTAAGTAGCTGGGATTACAGGCATACGCCACTGTGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCTATGTTGGTCAGGCTGGTCTCGAACTCCCGCCCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGAGAAATCATGGCCAGGAGGCTTGGAACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGTGGGTGGAACATGAAGTTAGGAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGCTGGATGTGGTCGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCTTGGGCGACAGAGCAAGACTCCATCTTGGAAAAATAAATAAATAAATAAAATAAAAATCATGGTCAGGTACAGTAGCTCATGCCTATAATTCCAGTGCTTTGCAAGGCTGAGGCGGGAGAATCACTTGAGTCCAGGAGGTTTACAGGCTTGAGGTTACAGGGAGCTATGATGGCACCACTGGAATCCAGCTTGGGTGACAAGAGTGAGACCCTGTTTCTAATTAATCAACAGCATTTAGTATGACTTAAACCATAAACGTATTATCACTCCAAGCATAGCAAAAGACCAGAAGGAAATAATCACTAATAACATTCTTTAATATCTCTATGTGGCAGGACTAGGATTTTTTTTTCTCCTATATTTTAGATGTTTTCTACCATGAAAATTTATTTTATAGCCAGAAAAAAAGAGATTCACAAAGTCAGCCTAGAAAACCAGGAAAGGAGGGAGTGGGCAAA
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Task1_train_639
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The gene YARS1 (tyrosyl-tRNA synthetase 1) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
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TTATTAGTGGAAACATAATTTAGCAAACTCCAAACTGTTAGATTCTATCCTAATTTTTACAAATTATATATAATGCTACATTGGACATCTTTGCAGTCTTTTCCCTTCTCTAGAATCATTTCCTTAAGATGCCGAAAATTGCTAGGTTCAAAATTGTTTTTTGAAAGGTATCCTAATCAACATTGCTGTCGACAATGTGTGAGGATACTTGTTCACAGCAATCAGCCACACTAAGTATTATATATTATCTACAGCCATTTTTCCTTTTTAGGTAATAGGCTTTGTTTCTTATTTGGAAAGAGTGAGTTCATGGTCATTTGAGTTCAGTGGTTACCAAATTCTAGCTCACATGTGACAGTATATGAATCACCTTTTACTGGGTTCCACCCAAACCTAATGAATCAAAATCTCTTGGGATTGGGCCAGGCATTTTTTTTTTTTTTTTTTAAGACGGAGTCTCACTCTGTGGCCCAGGCTGGAGTGCAGTGATGCAATCTTGACTCAGTGCAACCTCTTTCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACCACACCCAGCTGAATTTTTATATATTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCTTTTTTTTTTGAGAGGGAGTCTCGCTCTTGTTGCCCAGGCTGGAGTGCAACAGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCGCCTGCCACCACGACTGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAAGTATCCATCTGCCATGGCCTCCCAAGGTGCTGGGATTACAGGCGTGAGCCACCACGCAGGCCTTTTTTTTTTTTTTTTTTTTTAATTTGTATTTTTAAAAACTTTTTGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACCTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATACAGTGAAACCCCATCTCTACTAAAAAAATACAAAATAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACCACTGCACTGCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGGAGAGAGAAAGGGAAGGAAGGAAGGAAATACAGATTCCTAAGTTCCTCCCAGAACTACTTTATCAGAATCTCTATGGACAAGGTCTAATCAACACTTTTTTTTTTTTTTTTAAATTCCCTAGATGATTCTGAAGGTAAGCCATGTTTGGGAACCCAGAACTCAACCTTTCACATCTTTGGATTTCCACGTTCTAATGATCAGAACCAAAGTGAACTTTCCCTCAAGTACACGAGCTCAAGAGGGACTCTTAAATATTAAAAGATATCATAATATTAGTGATATCAAGTATTACCCTAGGAATCAAAATGCTAATTAGTGAAATGCAACCATAGTGCTCTCATTAATAAGGCTGAATTTCATCACAGTCGTATGAACAAAGACATTACTTTTGCTTTTATTTTTTTATCAGCAGCAAAAACCATTAAGTTATGATTAGATCTCATCAGGACTGCTCTGGATCCTTTGATACTCAAGAACCACTAAACTAATTGAATGGTGTAAGGCTCCTTCTAACTCAAATATTGGAGAATTCTAGTTAGCCAGGTCACTGTTCTTTTCAGTCCTCAATCTCTCCATTGAGGCTGAAGATTTCTAAATTCAAGTCTCAGCTGGCAACTTACCTCTTCTGAAGAGCTCATTTTGCTGCCTGTTAATCCTGGAACCATAGGATTCATCAGATGGACCCGTTTTGAATAGCCAAGTGCAGGGAGGTACTGAGAGATTAGAGAAACACACAAAAGCCGATATTAGTCTAAGTTCCTCCTCAGTGCCCTGATCTCATCTGACTTGGCCAGCAACTGAGTAGTTGTTATATTGCTTCCAATCTTTTTATACTAAATATGTAGCTTTGACAGTGACTGTAATTCAAGCGAAGTTTTTTTCCCTACTGCTTTTCTATCAGTATTACATTGTGAGGCTATTGGACTTATGTCACCATAAACAACAATAAAAGCTGGAAATACATAAAACAACAGGGCAAGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTAAGGTTAGGAGTTCAAGATGAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAAATTAGCCAAGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGTAGGATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAGACTCCATCTCAAAAAACAAAAACAAAAACAAAACAAACAAAAAACAAAACAAAACCCAACAGGGCAGCAAATCTTGAGCGAAGGGAAGTAAGGTGACCACACTTGCCTTGGGCTTTCTCACTGAGGGTATTTCTTTGCAAACCAGGTGCTGATAAAAAGAGACCAAGCAGACAGCGAAAGACTAAGCAGAGGAAACAGCTATTGGAGTTCAGGGCTGGAGGAGGCTAGGGATTGGGATGGGTTCCTCAGCCTATGTCAAAATTCCCCACTGATTTCTTGGCTGACTCATAGCTGTGTATGCACATAGTGAGATACCAGGAAGTCTGGCAGAGAACAGGTTCTGGGAGGCTGGAGACCTGGGCAGAGATTTTGGAGGCTGCACAGTATTGGGGAGACAGAGATGGAAGTTTAGCTCCAATCAAAGTAGAGAAGGCTTTGTGAACACCATGATATTTCAGTTTGAGTCTCTAGAAAGGCCATGCTCTAGGAACAAGGACCACACCACAGGAGTAAAGGCTAAGCTGAAGTAGACGTTCTAACAAAGCCTAAAACCAACCCCTGACAGAACCCAGGTGATAAGTCAGTAATTTAGCAATCTACAGAAAACATAGCATCCTACAAACACAATCCGGAGGGTCTACAATGCATCTATAATCCCTTTGATACACACATACAAAAAAATACTAGAAATGGGAAGCAGAGAAAAGTGGCTGACAGTTAAAATAGCCAATAGAAGCAGATTCAGAAACAATCCAGATATTGCAATAAATAGACCATGATGCCAAAATAACTGTGATTGGTAGGTTAAAGAAAATAAGCAGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTAGTCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCTAGCCTGGGTGACAAAGCGAGACTCCATCTCAAAAAAAAATAAAAATAAAAATAAATAAATAAATAAATAAAAGAAAATAAGAGTACATAGGCAGAATAGGCAGGAAAAACAAACCAAAAAGGAAATAAGAAAAGGCAGACAAAATGGATGAAAGAGAATTGTAAAAGACAATTGGAATCTATAAAAAGAATCAAATGGAAGTTCTAAAATGTCACAATACAATACTGGATTTAACAGAAGACACGATTGATAAACTTGAAGAAAGTTCAATAGAACATATCCAAAGTAAAGCACAGAGGGAACAAAGAAAGGAAAACAGCAGAACAGAATATGAGACATGAGTTTTATAAAGTCCCTAGAGGAGAAAGAGAATAAGAGAGAAGCAGTATTTGAGGAAATTATGGCA
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TTATTAGTGGAAACATAATTTAGCAAACTCCAAACTGTTAGATTCTATCCTAATTTTTACAAATTATATATAATGCTACATTGGACATCTTTGCAGTCTTTTCCCTTCTCTAGAATCATTTCCTTAAGATGCCGAAAATTGCTAGGTTCAAAATTGTTTTTTGAAAGGTATCCTAATCAACATTGCTGTCGACAATGTGTGAGGATACTTGTTCACAGCAATCAGCCACACTAAGTATTATATATTATCTACAGCCATTTTTCCTTTTTAGGTAATAGGCTTTGTTTCTTATTTGGAAAGAGTGAGTTCATGGTCATTTGAGTTCAGTGGTTACCAAATTCTAGCTCACATGTGACAGTATATGAATCACCTTTTACTGGGTTCCACCCAAACCTAATGAATCAAAATCTCTTGGGATTGGGCCAGGCATTTTTTTTTTTTTTTTTTAAGACGGAGTCTCACTCTGTGGCCCAGGCTGGAGTGCAGTGATGCAATCTTGACTCAGTGCAACCTCTTTCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACCACACCCAGCTGAATTTTTATATATTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCTTTTTTTTTTGAGAGGGAGTCTCGCTCTTGTTGCCCAGGCTGGAGTGCAACAGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCGCCTGCCACCACGACTGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAAGTATCCATCTGCCATGGCCTCCCAAGGTGCTGGGATTACAGGCGTGAGCCACCACGCAGGCCTTTTTTTTTTTTTTTTTTTTTAATTTGTATTTTTAAAAACTTTTTGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACCTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATACAGTGAAACCCCATCTCTACTAAAAAAATACAAAATAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACCACTGCACTGCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGGAGAGAGAAAGGGAAGGAAGGAAGGAAATACAGATTCCTAAGTTCCTCCCAGAACTACTTTATCAGAATCTCTATGGACAAGGTCTAATCAACACTTTTTTTTTTTTTTTTAAATTCCCTAGATGATTCTGAAGGTAAGCCATGTTTGGGAACCCAGAACTCAACCTTTCACATCTTTGGATTTCCACGTTCTAATGATCAGAACCAAAGTGAACTTTCCCTCAAGTACACGAGCTCAAGAGGGACTCTTAAATATTAAAAGATATCATAATATTAGTGATATCAAGTATTACCCTAGGAATCAAAATGCTAATTAGTGAAATGCAACCATAGTGCTCTCATTAATAAGGCTGAATTTCATCACAGTCGTATGAACAAAGACATTACTTTTGCTTTTATTTTTTTATCAGCAGCAAAAACCATTAAGTTATGATTAGATCTCATCAGGACTGCTCTGGATCCTTTGATACTCAAGAACCACTAAACTAATTGAATGGTGTAAGGCTCCTTCTAACTCAAATATTGGAGAATTCTAGTTAGCCAGGTCACTGTTCTTTTCAGTCCTCAATCTCTCCATTGAGGCTGAAGATTTCTAAATTCAAGTCTCAGCTGGCAACTTACCTCTTCTGAAGAGCTCATTTTGCTGCCTGTTAATCCTGGAACCATAAGATTCATCAGATGGACCCGTTTTGAATAGCCAAGTGCAGGGAGGTACTGAGAGATTAGAGAAACACACAAAAGCCGATATTAGTCTAAGTTCCTCCTCAGTGCCCTGATCTCATCTGACTTGGCCAGCAACTGAGTAGTTGTTATATTGCTTCCAATCTTTTTATACTAAATATGTAGCTTTGACAGTGACTGTAATTCAAGCGAAGTTTTTTTCCCTACTGCTTTTCTATCAGTATTACATTGTGAGGCTATTGGACTTATGTCACCATAAACAACAATAAAAGCTGGAAATACATAAAACAACAGGGCAAGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTAAGGTTAGGAGTTCAAGATGAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAAATTAGCCAAGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGTAGGATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAGACTCCATCTCAAAAAACAAAAACAAAAACAAAACAAACAAAAAACAAAACAAAACCCAACAGGGCAGCAAATCTTGAGCGAAGGGAAGTAAGGTGACCACACTTGCCTTGGGCTTTCTCACTGAGGGTATTTCTTTGCAAACCAGGTGCTGATAAAAAGAGACCAAGCAGACAGCGAAAGACTAAGCAGAGGAAACAGCTATTGGAGTTCAGGGCTGGAGGAGGCTAGGGATTGGGATGGGTTCCTCAGCCTATGTCAAAATTCCCCACTGATTTCTTGGCTGACTCATAGCTGTGTATGCACATAGTGAGATACCAGGAAGTCTGGCAGAGAACAGGTTCTGGGAGGCTGGAGACCTGGGCAGAGATTTTGGAGGCTGCACAGTATTGGGGAGACAGAGATGGAAGTTTAGCTCCAATCAAAGTAGAGAAGGCTTTGTGAACACCATGATATTTCAGTTTGAGTCTCTAGAAAGGCCATGCTCTAGGAACAAGGACCACACCACAGGAGTAAAGGCTAAGCTGAAGTAGACGTTCTAACAAAGCCTAAAACCAACCCCTGACAGAACCCAGGTGATAAGTCAGTAATTTAGCAATCTACAGAAAACATAGCATCCTACAAACACAATCCGGAGGGTCTACAATGCATCTATAATCCCTTTGATACACACATACAAAAAAATACTAGAAATGGGAAGCAGAGAAAAGTGGCTGACAGTTAAAATAGCCAATAGAAGCAGATTCAGAAACAATCCAGATATTGCAATAAATAGACCATGATGCCAAAATAACTGTGATTGGTAGGTTAAAGAAAATAAGCAGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTAGTCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCTAGCCTGGGTGACAAAGCGAGACTCCATCTCAAAAAAAAATAAAAATAAAAATAAATAAATAAATAAATAAAAGAAAATAAGAGTACATAGGCAGAATAGGCAGGAAAAACAAACCAAAAAGGAAATAAGAAAAGGCAGACAAAATGGATGAAAGAGAATTGTAAAAGACAATTGGAATCTATAAAAAGAATCAAATGGAAGTTCTAAAATGTCACAATACAATACTGGATTTAACAGAAGACACGATTGATAAACTTGAAGAAAGTTCAATAGAACATATCCAAAGTAAAGCACAGAGGGAACAAAGAAAGGAAAACAGCAGAACAGAATATGAGACATGAGTTTTATAAAGTCCCTAGAGGAGAAAGAGAATAAGAGAGAAGCAGTATTTGAGGAAATTATGGCA
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Task1_train_640
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A change on Chromosome 1 affects gene YARS1 (tyrosyl-tRNA synthetase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Charcot-Marie-Tooth disease dominant intermediate C
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TGCTGGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCATGGGTGACAAAGCGAGACTCCCTCTCAAAAAAAAAAAAAAAAGATTTTAGGCTTTATGGGCCACATATGCTCTTTACTGCTTATTCTTCATCTTTTTTCACAATCCTTAAACAATGTAAAAACCATTCTTAGCTCATGAGTCATACAAAAACAAGGTATGGGCCAAATCCCTGCTTTAATAATAAAAGGAGGTCCAACTAAAAAGTTAATCAAGCAGATACAATGAAATAATAGGCCAGGTGCAGTGGCTCATGCTTGTAATCCCAGTACTTTGACAGGCTGAGATGGGTGGATCATGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAAGAGAGTCACTTGAACCTGGGAAACAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCCAGGCAACAGTGTGAGACTCTGTCTTTAAAAAACAAACAAAAAACAACAAAAAACAAATAATAAGAAATAATCAAAAAATGTATTTATTTTTTTCTTTTTTGTTTTTTTTTTCAGAGACAAGGTCTTGCTTTGTCACCCAGTTTGGAGTGTGATGGTGTGATCATGGCTCACTGCAGCCAGGATCACACCTCCTGGGCTCAAGCAATTATTCTGCCTCGGCCTCCTGAATAGCTGGGACTACAGAGGCGTGCCTGGCTAATTTTTTATTTTATTGTGGAGACAGAGTCTTGCTATGTGGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAATGATCCTCCTGCCTCAGCCTCCCAACGTGCTAGGATTACAGGCATGAGCCACAGTGCCTGGCCCTCAAAAAATTTATATTGTGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGTGCTTTGGAAGGCTGAGATGGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTTAAAAATATAAAAATTACCTAGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGCAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGAGTGAGCCATTGCACTCCAGCCTGGGTGACAATAGCGAAACTCAGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATATATATATAGTAAGCATTTCTGTATTCATTAACTATATCAAAAAACTAAGCCAGGCACAGTGGATCTCACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAAGACTGCTTGAGCCCAGGGGTTTGAGACCTGCCTGGGCAACACAGGGAGGCCTCATCCCTACAAGTAATTTTAAAACTACCCGGGTGTTGTGGCATGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAACTGCTTGAGCCCAGGCTGTCGAGGCTGTGATGAGCCATGACCGCATTACTGCACTCTGGCCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAGACAAGAAAAAGAAAAAGATGCTGGGAAATGCGAACCAAATGCTCTGTGAAAGGACAGTAGTTCCAACTGGTAATGCCTCTCCTTGGAAACTGGGCTATTAGGAAAGGAGTAAATCCAACAGGTGCGGGAGCAGCTTCCTGGTTGTCACCAGGCACATGGGCTCTGGAGTTTGAAAGATCTGGGTACTAATAATTCCTGCTCAGTTACTAACTGTGTGATATTGGACAACTTCTTATCTTCTATCCTCAGTGTTCTCATCTGCAAAACAAGGAGAATATTTACCATACACTATGACTAGTGGGACTGACACATCATAGTTCAATAAACACAGCTGCATACCTCTGAGGTGCAAGTGAAAAAAGACAGGAAAGCAGACACTCACCTTCTCTGCAAAGGTGAAAATCTTTCTCTGATCAATGCCTCCAAATTGGGCATCTACTTTTAAATACTCTTCATCCAAAGCCTGTGGAAAGAAACACATGAACATAAACATCTACTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCCACCTCTGCCTCTCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGACATGCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAACGTTTTGCCATGTTGCCCAGGCTGGCCTTAAAATCCTGAGCTCACCTTGGCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCATGCCCAGCCTAAACATCTACTTTATTTCTTCTATATGGGTCTGAGAAATCAGAAACTTTAGGAAATTACTAGATTTTTCAGAAGGTAAAGCCAAGAAGAAAATAAACAGCAGTCAGCTTCCCTCTTGGCCTCAAAAGCTGCAAAGACAGTTGCTGAGTGTTTGCGGTGAACATTACTCTATGTGGATGTCATGGGATAAAAAAATAAGAGTAGTCTCTGCCCTCAGGATATGCAGAATCCTGCAGGGAGGGAGAGAAGAAGAAAACAAACCATAGTCATGCCAAAGGTATTCTACTGAATAAGGTGGCCTGTGACAAATGAAATATAAGTAGCATAAAGAAGTCCTGTGAGAATTCGGGAAAAAGGTAAGACTGAACTAGAAAACAGTGACTGTCTGGGTGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGAAAGATCACTTGAGCCCGGGTGTCTCTCCAAAAATAAAAAACAAACAAACAAACAAAAAGAAATTAGCCAAGTGTGATGGTGCGCATCTATAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCACCTAAGCCCAGAGAGGTCGTGGCTGCGGTGAGCCATGATCGTGCCACTGCACCCGAGCCTGGGAGACAGAGTGAAGCCCTGTCTCAAAAAATAAAATTAAATTAAAATAAATAAATAAAACAGTGACTGTCACTTATGACATGCCAGGCCTGCTGCCAGCTCCGTGGATGGTGAGATAAATCAGACCCAGACTCTCCCTTCAAGAAGCCCAATTATCCAGCTGGGGAGAGACATGTAAACAGATCATTTCAACTCAGCGTGCTAAGGGTTAACCCAGATGTTCATATAAGGAACAGTGTTGACATAAAAGAAGAAATTATCTCTATTTAGTAAGATGGGTGTGGAGAAGTCTTCCTAGAATCAGATTGTGGGCTAAGCTTGGTTTTGAACAACATATAGATGTTTTTCACCATGCAGAGGAAATAGAATGTGAGAAGGCACAGAGGTGTGAAGTGTTTAGGGAAATTTTGAGTGATTCAGTCTGCAAAAGTACGAACTTCAAGGGAGGTGGGAAGTAGTGACTGATGAGGTTAGAAAAGTAGGTAAAGACCATGAAATGTCATGCTAGGGTGCCTAGTGTTATCTTGGCCAATGAAAGGTTTTAAGGAGAGGAGAAATATGACCAGCACTGTAGGAAGATCTCAACAGTAACAGGGCAGGGCAGAGACTGGAGACTCATGGGTTGGAGACAAAGTGAATGCCTCAAAGGCTATTGTGAAAGTCTAAGTGAGAAATATCGATGGACAAAAGACAATGAGGACGCAGAGCAAGAATGAATTTAAGACATTTTAAAAAAGTAGAATCGATAAGATTTAGTGCATAATTGGCTGAAGGGAAGAGGAAGAGAAGGCTGAACAAGCAGGAACAGTCTAGAACAGCATTATCCAACAGAATCTTCTGTGGTGATGAATATATTATATGTCTGTGCTGTCCAATATAGTAGCTAACCAAGAACTTGATATATAGCCAATGTGACTAGAGAACAAAAATTTCCATTTTATTTAATAGCCACATATGACTAGGACTAGAGGCTACCACATTAGACAGTACAGACCTAGTTTTTTCTTTCTTTCTTTTT
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TGCTGGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCATGGGTGACAAAGCGAGACTCCCTCTCAAAAAAAAAAAAAAAAGATTTTAGGCTTTATGGGCCACATATGCTCTTTACTGCTTATTCTTCATCTTTTTTCACAATCCTTAAACAATGTAAAAACCATTCTTAGCTCATGAGTCATACAAAAACAAGGTATGGGCCAAATCCCTGCTTTAATAATAAAAGGAGGTCCAACTAAAAAGTTAATCAAGCAGATACAATGAAATAATAGGCCAGGTGCAGTGGCTCATGCTTGTAATCCCAGTACTTTGACAGGCTGAGATGGGTGGATCATGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAAGAGAGTCACTTGAACCTGGGAAACAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCCAGGCAACAGTGTGAGACTCTGTCTTTAAAAAACAAACAAAAAACAACAAAAAACAAATAATAAGAAATAATCAAAAAATGTATTTATTTTTTTCTTTTTTGTTTTTTTTTTCAGAGACAAGGTCTTGCTTTGTCACCCAGTTTGGAGTGTGATGGTGTGATCATGGCTCACTGCAGCCAGGATCACACCTCCTGGGCTCAAGCAATTATTCTGCCTCGGCCTCCTGAATAGCTGGGACTACAGAGGCGTGCCTGGCTAATTTTTTATTTTATTGTGGAGACAGAGTCTTGCTATGTGGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAATGATCCTCCTGCCTCAGCCTCCCAACGTGCTAGGATTACAGGCATGAGCCACAGTGCCTGGCCCTCAAAAAATTTATATTGTGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGTGCTTTGGAAGGCTGAGATGGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTTAAAAATATAAAAATTACCTAGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGCAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGAGTGAGCCATTGCACTCCAGCCTGGGTGACAATAGCGAAACTCAGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATATATATATAGTAAGCATTTCTGTATTCATTAACTATATCAAAAAACTAAGCCAGGCACAGTGGATCTCACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAAGACTGCTTGAGCCCAGGGGTTTGAGACCTGCCTGGGCAACACAGGGAGGCCTCATCCCTACAAGTAATTTTAAAACTACCCGGGTGTTGTGGCATGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAACTGCTTGAGCCCAGGCTGTCGAGGCTGTGATGAGCCATGACCGCATTACTGCACTCTGGCCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAGACAAGAAAAAGAAAAAGATGCTGGGAAATGCGAACCAAATGCTCTGTGAAAGGACAGTAGTTCCAACTGGTAATGCCTCTCCTTGGAAACTGGGCTATTAGGAAAGGAGTAAATCCAACAGGTGCGGGAGCAGCTTCCTGGTTGTCACCAGGCACATGGGCTCTGGAGTTTGAAAGATCTGGGTACTAATAATTCCTGCTCAGTTACTAACTGTGTGATATTGGACAACTTCTTATCTTCTATCCTCAGTGTTCTCATCTGCAAAACAAGGAGAATATTTACCATACACTATGACTAGTGGGACTGACACATCATAGTTCAATAAACACAGCTGCATACCTCTGAGGTGCAAGTGAAAAAAGACAGGAAAGCAGACACTCACCTTCTTTGCAAAGGTGAAAATCTTTCTCTGATCAATGCCTCCAAATTGGGCATCTACTTTTAAATACTCTTCATCCAAAGCCTGTGGAAAGAAACACATGAACATAAACATCTACTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCCACCTCTGCCTCTCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGACATGCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAACGTTTTGCCATGTTGCCCAGGCTGGCCTTAAAATCCTGAGCTCACCTTGGCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCATGCCCAGCCTAAACATCTACTTTATTTCTTCTATATGGGTCTGAGAAATCAGAAACTTTAGGAAATTACTAGATTTTTCAGAAGGTAAAGCCAAGAAGAAAATAAACAGCAGTCAGCTTCCCTCTTGGCCTCAAAAGCTGCAAAGACAGTTGCTGAGTGTTTGCGGTGAACATTACTCTATGTGGATGTCATGGGATAAAAAAATAAGAGTAGTCTCTGCCCTCAGGATATGCAGAATCCTGCAGGGAGGGAGAGAAGAAGAAAACAAACCATAGTCATGCCAAAGGTATTCTACTGAATAAGGTGGCCTGTGACAAATGAAATATAAGTAGCATAAAGAAGTCCTGTGAGAATTCGGGAAAAAGGTAAGACTGAACTAGAAAACAGTGACTGTCTGGGTGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGAAAGATCACTTGAGCCCGGGTGTCTCTCCAAAAATAAAAAACAAACAAACAAACAAAAAGAAATTAGCCAAGTGTGATGGTGCGCATCTATAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCACCTAAGCCCAGAGAGGTCGTGGCTGCGGTGAGCCATGATCGTGCCACTGCACCCGAGCCTGGGAGACAGAGTGAAGCCCTGTCTCAAAAAATAAAATTAAATTAAAATAAATAAATAAAACAGTGACTGTCACTTATGACATGCCAGGCCTGCTGCCAGCTCCGTGGATGGTGAGATAAATCAGACCCAGACTCTCCCTTCAAGAAGCCCAATTATCCAGCTGGGGAGAGACATGTAAACAGATCATTTCAACTCAGCGTGCTAAGGGTTAACCCAGATGTTCATATAAGGAACAGTGTTGACATAAAAGAAGAAATTATCTCTATTTAGTAAGATGGGTGTGGAGAAGTCTTCCTAGAATCAGATTGTGGGCTAAGCTTGGTTTTGAACAACATATAGATGTTTTTCACCATGCAGAGGAAATAGAATGTGAGAAGGCACAGAGGTGTGAAGTGTTTAGGGAAATTTTGAGTGATTCAGTCTGCAAAAGTACGAACTTCAAGGGAGGTGGGAAGTAGTGACTGATGAGGTTAGAAAAGTAGGTAAAGACCATGAAATGTCATGCTAGGGTGCCTAGTGTTATCTTGGCCAATGAAAGGTTTTAAGGAGAGGAGAAATATGACCAGCACTGTAGGAAGATCTCAACAGTAACAGGGCAGGGCAGAGACTGGAGACTCATGGGTTGGAGACAAAGTGAATGCCTCAAAGGCTATTGTGAAAGTCTAAGTGAGAAATATCGATGGACAAAAGACAATGAGGACGCAGAGCAAGAATGAATTTAAGACATTTTAAAAAAGTAGAATCGATAAGATTTAGTGCATAATTGGCTGAAGGGAAGAGGAAGAGAAGGCTGAACAAGCAGGAACAGTCTAGAACAGCATTATCCAACAGAATCTTCTGTGGTGATGAATATATTATATGTCTGTGCTGTCCAATATAGTAGCTAACCAAGAACTTGATATATAGCCAATGTGACTAGAGAACAAAAATTTCCATTTTATTTAATAGCCACATATGACTAGGACTAGAGGCTACCACATTAGACAGTACAGACCTAGTTTTTTCTTTCTTTCTTTTT
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Task1_train_641
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A variant was discovered on Chromosome 1, affecting YARS1 (tyrosyl-tRNA synthetase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
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TGCTGGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCATGGGTGACAAAGCGAGACTCCCTCTCAAAAAAAAAAAAAAAAGATTTTAGGCTTTATGGGCCACATATGCTCTTTACTGCTTATTCTTCATCTTTTTTCACAATCCTTAAACAATGTAAAAACCATTCTTAGCTCATGAGTCATACAAAAACAAGGTATGGGCCAAATCCCTGCTTTAATAATAAAAGGAGGTCCAACTAAAAAGTTAATCAAGCAGATACAATGAAATAATAGGCCAGGTGCAGTGGCTCATGCTTGTAATCCCAGTACTTTGACAGGCTGAGATGGGTGGATCATGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAAGAGAGTCACTTGAACCTGGGAAACAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCCAGGCAACAGTGTGAGACTCTGTCTTTAAAAAACAAACAAAAAACAACAAAAAACAAATAATAAGAAATAATCAAAAAATGTATTTATTTTTTTCTTTTTTGTTTTTTTTTTCAGAGACAAGGTCTTGCTTTGTCACCCAGTTTGGAGTGTGATGGTGTGATCATGGCTCACTGCAGCCAGGATCACACCTCCTGGGCTCAAGCAATTATTCTGCCTCGGCCTCCTGAATAGCTGGGACTACAGAGGCGTGCCTGGCTAATTTTTTATTTTATTGTGGAGACAGAGTCTTGCTATGTGGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAATGATCCTCCTGCCTCAGCCTCCCAACGTGCTAGGATTACAGGCATGAGCCACAGTGCCTGGCCCTCAAAAAATTTATATTGTGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGTGCTTTGGAAGGCTGAGATGGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTTAAAAATATAAAAATTACCTAGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGCAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGAGTGAGCCATTGCACTCCAGCCTGGGTGACAATAGCGAAACTCAGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATATATATATAGTAAGCATTTCTGTATTCATTAACTATATCAAAAAACTAAGCCAGGCACAGTGGATCTCACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAAGACTGCTTGAGCCCAGGGGTTTGAGACCTGCCTGGGCAACACAGGGAGGCCTCATCCCTACAAGTAATTTTAAAACTACCCGGGTGTTGTGGCATGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAACTGCTTGAGCCCAGGCTGTCGAGGCTGTGATGAGCCATGACCGCATTACTGCACTCTGGCCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAGACAAGAAAAAGAAAAAGATGCTGGGAAATGCGAACCAAATGCTCTGTGAAAGGACAGTAGTTCCAACTGGTAATGCCTCTCCTTGGAAACTGGGCTATTAGGAAAGGAGTAAATCCAACAGGTGCGGGAGCAGCTTCCTGGTTGTCACCAGGCACATGGGCTCTGGAGTTTGAAAGATCTGGGTACTAATAATTCCTGCTCAGTTACTAACTGTGTGATATTGGACAACTTCTTATCTTCTATCCTCAGTGTTCTCATCTGCAAAACAAGGAGAATATTTACCATACACTATGACTAGTGGGACTGACACATCATAGTTCAATAAACACAGCTGCATACCTCTGAGGTGCAAGTGAAAAAAGACAGGAAAGCAGACACTCACCTTCTCTGCAAAGGTGAAAATCTTTCTCTGATCAATGCCTCCAAATTGGGCATCTACTTTTAAATACTCTTCATCCAAAGCCTGTGGAAAGAAACACATGAACATAAACATCTACTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCCACCTCTGCCTCTCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGACATGCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAACGTTTTGCCATGTTGCCCAGGCTGGCCTTAAAATCCTGAGCTCACCTTGGCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCATGCCCAGCCTAAACATCTACTTTATTTCTTCTATATGGGTCTGAGAAATCAGAAACTTTAGGAAATTACTAGATTTTTCAGAAGGTAAAGCCAAGAAGAAAATAAACAGCAGTCAGCTTCCCTCTTGGCCTCAAAAGCTGCAAAGACAGTTGCTGAGTGTTTGCGGTGAACATTACTCTATGTGGATGTCATGGGATAAAAAAATAAGAGTAGTCTCTGCCCTCAGGATATGCAGAATCCTGCAGGGAGGGAGAGAAGAAGAAAACAAACCATAGTCATGCCAAAGGTATTCTACTGAATAAGGTGGCCTGTGACAAATGAAATATAAGTAGCATAAAGAAGTCCTGTGAGAATTCGGGAAAAAGGTAAGACTGAACTAGAAAACAGTGACTGTCTGGGTGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGAAAGATCACTTGAGCCCGGGTGTCTCTCCAAAAATAAAAAACAAACAAACAAACAAAAAGAAATTAGCCAAGTGTGATGGTGCGCATCTATAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCACCTAAGCCCAGAGAGGTCGTGGCTGCGGTGAGCCATGATCGTGCCACTGCACCCGAGCCTGGGAGACAGAGTGAAGCCCTGTCTCAAAAAATAAAATTAAATTAAAATAAATAAATAAAACAGTGACTGTCACTTATGACATGCCAGGCCTGCTGCCAGCTCCGTGGATGGTGAGATAAATCAGACCCAGACTCTCCCTTCAAGAAGCCCAATTATCCAGCTGGGGAGAGACATGTAAACAGATCATTTCAACTCAGCGTGCTAAGGGTTAACCCAGATGTTCATATAAGGAACAGTGTTGACATAAAAGAAGAAATTATCTCTATTTAGTAAGATGGGTGTGGAGAAGTCTTCCTAGAATCAGATTGTGGGCTAAGCTTGGTTTTGAACAACATATAGATGTTTTTCACCATGCAGAGGAAATAGAATGTGAGAAGGCACAGAGGTGTGAAGTGTTTAGGGAAATTTTGAGTGATTCAGTCTGCAAAAGTACGAACTTCAAGGGAGGTGGGAAGTAGTGACTGATGAGGTTAGAAAAGTAGGTAAAGACCATGAAATGTCATGCTAGGGTGCCTAGTGTTATCTTGGCCAATGAAAGGTTTTAAGGAGAGGAGAAATATGACCAGCACTGTAGGAAGATCTCAACAGTAACAGGGCAGGGCAGAGACTGGAGACTCATGGGTTGGAGACAAAGTGAATGCCTCAAAGGCTATTGTGAAAGTCTAAGTGAGAAATATCGATGGACAAAAGACAATGAGGACGCAGAGCAAGAATGAATTTAAGACATTTTAAAAAAGTAGAATCGATAAGATTTAGTGCATAATTGGCTGAAGGGAAGAGGAAGAGAAGGCTGAACAAGCAGGAACAGTCTAGAACAGCATTATCCAACAGAATCTTCTGTGGTGATGAATATATTATATGTCTGTGCTGTCCAATATAGTAGCTAACCAAGAACTTGATATATAGCCAATGTGACTAGAGAACAAAAATTTCCATTTTATTTAATAGCCACATATGACTAGGACTAGAGGCTACCACATTAGACAGTACAGACCTAGTTTTTTCTTTCTTTCTTTTT
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TGCTGGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCATGGGTGACAAAGCGAGACTCCCTCTCAAAAAAAAAAAAAAAAGATTTTAGGCTTTATGGGCCACATATGCTCTTTACTGCTTATTCTTCATCTTTTTTCACAATCCTTAAACAATGTAAAAACCATTCTTAGCTCATGAGTCATACAAAAACAAGGTATGGGCCAAATCCCTGCTTTAATAATAAAAGGAGGTCCAACTAAAAAGTTAATCAAGCAGATACAATGAAATAATAGGCCAGGTGCAGTGGCTCATGCTTGTAATCCCAGTACTTTGACAGGCTGAGATGGGTGGATCATGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAAGAGAGTCACTTGAACCTGGGAAACAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCCAGGCAACAGTGTGAGACTCTGTCTTTAAAAAACAAACAAAAAACAACAAAAAACAAATAATAAGAAATAATCAAAAAATGTATTTATTTTTTTCTTTTTTGTTTTTTTTTTCAGAGACAAGGTCTTGCTTTGTCACCCAGTTTGGAGTGTGATGGTGTGATCATGGCTCACTGCAGCCAGGATCACACCTCCTGGGCTCAAGCAATTATTCTGCCTCGGCCTCCTGAATAGCTGGGACTACAGAGGCGTGCCTGGCTAATTTTTTATTTTATTGTGGAGACAGAGTCTTGCTATGTGGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAATGATCCTCCTGCCTCAGCCTCCCAACGTGCTAGGATTACAGGCATGAGCCACAGTGCCTGGCCCTCAAAAAATTTATATTGTGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGTGCTTTGGAAGGCTGAGATGGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTTAAAAATATAAAAATTACCTAGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGCAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGAGTGAGCCATTGCACTCCAGCCTGGGTGACAATAGCGAAACTCAGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATATATATATAGTAAGCATTTCTGTATTCATTAACTATATCAAAAAACTAAGCCAGGCACAGTGGATCTCACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAAGACTGCTTGAGCCCAGGGGTTTGAGACCTGCCTGGGCAACACAGGGAGGCCTCATCCCTACAAGTAATTTTAAAACTACCCGGGTGTTGTGGCATGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAACTGCTTGAGCCCAGGCTGTCGAGGCTGTGATGAGCCATGACCGCATTACTGCACTCTGGCCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAGACAAGAAAAAGAAAAAGATGCTGGGAAATGCGAACCAAATGCTCTGTGAAAGGACAGTAGTTCCAACTGGTAATGCCTCTCCTTGGAAACTGGGCTATTAGGAAAGGAGTAAATCCAACAGGTGCGGGAGCAGCTTCCTGGTTGTCACCAGGCACATGGGCTCTGGAGTTTGAAAGATCTGGGTACTAATAATTCCTGCTCAGTTACTAACTGTGTGATATTGGACAACTTCTTATCTTCTATCCTCAGTGTTCTCATCTGCAAAACAAGGAGAATATTTACCATACACTATGACTAGTGGGACTGACACATCATAGTTCAATAAACACAGCTGCATACCTCTGAGGTGCAAGTGAAAAAAGACAGGAAAGCAGACACTCACCTTCTTTGCAAAGGTGAAAATCTTTCTCTGATCAATGCCTCCAAATTGGGCATCTACTTTTAAATACTCTTCATCCAAAGCCTGTGGAAAGAAACACATGAACATAAACATCTACTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCCACCTCTGCCTCTCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGACATGCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAACGTTTTGCCATGTTGCCCAGGCTGGCCTTAAAATCCTGAGCTCACCTTGGCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCATGCCCAGCCTAAACATCTACTTTATTTCTTCTATATGGGTCTGAGAAATCAGAAACTTTAGGAAATTACTAGATTTTTCAGAAGGTAAAGCCAAGAAGAAAATAAACAGCAGTCAGCTTCCCTCTTGGCCTCAAAAGCTGCAAAGACAGTTGCTGAGTGTTTGCGGTGAACATTACTCTATGTGGATGTCATGGGATAAAAAAATAAGAGTAGTCTCTGCCCTCAGGATATGCAGAATCCTGCAGGGAGGGAGAGAAGAAGAAAACAAACCATAGTCATGCCAAAGGTATTCTACTGAATAAGGTGGCCTGTGACAAATGAAATATAAGTAGCATAAAGAAGTCCTGTGAGAATTCGGGAAAAAGGTAAGACTGAACTAGAAAACAGTGACTGTCTGGGTGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGAAAGATCACTTGAGCCCGGGTGTCTCTCCAAAAATAAAAAACAAACAAACAAACAAAAAGAAATTAGCCAAGTGTGATGGTGCGCATCTATAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCACCTAAGCCCAGAGAGGTCGTGGCTGCGGTGAGCCATGATCGTGCCACTGCACCCGAGCCTGGGAGACAGAGTGAAGCCCTGTCTCAAAAAATAAAATTAAATTAAAATAAATAAATAAAACAGTGACTGTCACTTATGACATGCCAGGCCTGCTGCCAGCTCCGTGGATGGTGAGATAAATCAGACCCAGACTCTCCCTTCAAGAAGCCCAATTATCCAGCTGGGGAGAGACATGTAAACAGATCATTTCAACTCAGCGTGCTAAGGGTTAACCCAGATGTTCATATAAGGAACAGTGTTGACATAAAAGAAGAAATTATCTCTATTTAGTAAGATGGGTGTGGAGAAGTCTTCCTAGAATCAGATTGTGGGCTAAGCTTGGTTTTGAACAACATATAGATGTTTTTCACCATGCAGAGGAAATAGAATGTGAGAAGGCACAGAGGTGTGAAGTGTTTAGGGAAATTTTGAGTGATTCAGTCTGCAAAAGTACGAACTTCAAGGGAGGTGGGAAGTAGTGACTGATGAGGTTAGAAAAGTAGGTAAAGACCATGAAATGTCATGCTAGGGTGCCTAGTGTTATCTTGGCCAATGAAAGGTTTTAAGGAGAGGAGAAATATGACCAGCACTGTAGGAAGATCTCAACAGTAACAGGGCAGGGCAGAGACTGGAGACTCATGGGTTGGAGACAAAGTGAATGCCTCAAAGGCTATTGTGAAAGTCTAAGTGAGAAATATCGATGGACAAAAGACAATGAGGACGCAGAGCAAGAATGAATTTAAGACATTTTAAAAAAGTAGAATCGATAAGATTTAGTGCATAATTGGCTGAAGGGAAGAGGAAGAGAAGGCTGAACAAGCAGGAACAGTCTAGAACAGCATTATCCAACAGAATCTTCTGTGGTGATGAATATATTATATGTCTGTGCTGTCCAATATAGTAGCTAACCAAGAACTTGATATATAGCCAATGTGACTAGAGAACAAAAATTTCCATTTTATTTAATAGCCACATATGACTAGGACTAGAGGCTACCACATTAGACAGTACAGACCTAGTTTTTTCTTTCTTTCTTTTT
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Task1_train_642
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Given this context: Chromosome 1, gene YARS1 (tyrosyl-tRNA synthetase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Charcot-Marie-Tooth disease dominant intermediate C
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ATCTAGAACAGTGCTTATCATATACCAGGGGTTCCATAAAGATCTGTAGATTAAGTGTAAAAATGAATAAAATTTCAGGTACTCTACGAAGGCTGTAGATTCAAAGATGTTCATATGCTTTATTTATTCATTTCTTTTTCTTTCTTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTCCACTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCCGTGATTACAGGTGTATGCCACCACGCCCAGGTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCTAGACTGGTCTCAAACGCCTGGCCTCAAGTGATGTGCCCACCTCAGCCTTCCAAAGCATTGGGATTACAGGTGTGAGCCACCATGGCTGGCCCTATTTTTCTTTCTTTCTTTTCTTTTTTTTTAGAGATGAGGACTTGCCATGTTGGCCAGGGCAGTCTTGAACTCTTGGCCTCAAGCAATTCTCCCAGCTTGGCCTCCCAAAGTGCTCAGATTACAGATGTGAGCCACCCTGCCCAGCCTATATGCTTTATTTAAAGCCCTAATTGTATCAACAGTGAGGAATGGTAAAGAAAATTATATTAGATGCAGTAAAAAGAGAAAGTTACTAGTAAGCAAGAGATCTGGGTTCACATCCTGACTCATCTACTTACTAGATGTATAAACTCAGGAAAGTTAAATCTGAATTAATTTCCTTAGCAAAATAATGCTTACTTTAAAAAGTTGTTCTAAGGGTTTAAATGCAAAAGTGACTAATAGAGCGCTATGTACTTATAAATGCATATCTGAGGTTAAGAAAGAGTAAGTTAGGCTGGGCGCAGTGGCTTATGCCTATAATCCCAGCACTTTGGGAGACCGAGGTGGGCGGATCACCTGAGCTCAGGAGTTAGAGGTCAGCCTGGGTAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCATGCCTGTAATCCCAGGTACTCAGGAGGCTGAGGGAGGAGAATCTCTTGAACCCAGGAGGCAGAGGGTGCAGTGAGTCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCACCTCAAAAAAAAAAAAAAAGAGTAAGTTAAACATTAGGACACGAAATATCTATGCTAACATTCCAAATATGAACAAAACTCACAAAGATAAAAAGCAATAACAATTGTTGGGGCGGTGAGAAATAAGTGAAATATTTTTCTTTCACATTTCTTTTATTATTATTTGCTGAGGCTGGAAGAGAAAGGGAGGCTGAATTGTTCACCATCACTCTCCCATATGCTGTGAGTTCTGCAAGGCCAAGGACTTTGTTTTGGTTACGTTTATATTTCCAGCAAATAGGACAGTATTAAGGCATTTACTAGTCAGTACACTTCTGATGGATGAATTACAAGGACAATGAGGTTTTAATGGACAAAGTTTTAAATGGTTCTTAATAGGTCACGCCAGACAGCTTCTAATCTAAATGTAAAGAATGCCTGGACTCCACAGGCCTGTAATTAGCTAGAAGCACCAGAGCCACAAGGAGGGTGGATGATCAAGCACTTACTTGCTGAGCTGGTAATCAGTGCCTTTGATGAACTTGAGCTTCTCCAAGGGCACACCAATGCTCTCCAGCATTGCTTTGATCACATTCTCATAGTAACTGACTCGGAGTTCTAGAAGTTCCCATGGGGCTTTCATGTTATCCAGGTATGCGTGGAGGTCCGCAAACAGAATTGTTACCTGGACAAGAGATAAGGGGCCACCAAAATGTGAATTTGTCCAATTACCTCCAACCTGTCTCCTCCAGCCCCACCCTGTCCTTGTTAAGTCTCTCTTGGGTCTCCCTTGGGTCATTCCCCAAGGGCTTATAGCATTAGTTCTTACCTCACACCCTGCCTTTAAGAAGTCTGCAATCTTTGACATGGGCACAAAGTAAGCCACATGTGGTTTGCCCGTGGTTGCCGTTCCCCAGTAAATTTTAAGTTCCCGCTCCTTCAGTATCTCCTTCAGCTTCTCTTCCCCCAGAACCTCCTATTGTGGAAGCAGAAGAGTTAGTTTAATGTCAGTGCCTCACCTTGCTCATCCTTTACCATGTGACAAGGAAAACAACAGCATGTGTCAGTGGAGATCCAGGCTCAGAGCCATCAAGGAGGTCCAGCCATGTTCTCAGTGCAGATGTGATACCCTACCTTGTTTTAATCTGAATTGACTCTCCCTTAGCTGAGAGAGCCAGACAAACTCCATTTTGGCTCCTTCACTTGTAGCCCCTTGCAGCCTCTTACCCACCCCCCTTCCTCAAGGACTTAACTTGTGCAAGCTGACTCCCAGCACATCAAAGAACGCAAATAACTGATAAGATATTGTGGAAAGCTATAGCCGCAGTTCCCAGGAATTTGCCCAGTTGATATTACCCTAAGCCCCAGCATTTGTGTCTGGTTGATGGTACCCAAAGCCTCCGCGTCTATCACCTTGTGATGGATTTAAAGCCCCTGCGCCCGGAACTGTTTGTTTTCCCGTAACCATTTGTCTTTCTAACTTTTTTGCCTGTTTTACTTCTGTAAGATTGCTTCAGCTAGGCTCCTCCTCCCCTTTCTAAACCAAAGTATAAAAGAAAATCTAGCACCTTCTTCGGGGCGGAGAGAATTTTGAGCACTAGCCATCTCTCGGTCGCTGGCTAATAAAGGACTCCTGAATTCATCTCAGAGTGTGGCGTTTCTCTATAACTCGCTCGGTTACAACGCGGAGAGCCAATGTAAAGTTGGTGCTGCTGCTAGTATCACCCTTGATGTTGGGGAGTGGGGACATGCCCCTAACTGCATCTTTGCCTGCAGCAGCTACCCGTAAACCAAAACTAAACTTTAAGCCCCCCAACTGTCGGAATGGACCCCACATTTTGGCCAACAGGATCCCAAAGAAACTTAAAAAACTAGTTCAGGCCAAGGCAGGAAGGAAGGGTCTGACATGCCTCATTATACCCTTCTCCCTTTGGAGTATATTTATTCATTTTTTTTTTGAGACAAGGTCTTGCTATGCTGCCCTGGCAGGAGTCCGGTTGTGCAAACACAGCTCACTGCAGCCTTGACCTCCAGGCTCAACAATCCTCCCACTTCAGCCTTCCAAGTAGCTTGGGGCTACCAGCACATGTATGCCTGGCTAGTTTTTTCAGTTTAGTAGAGAAGTCTCACTATGTTGCCCAGGCTGGTCTCGAACTCTTGGCCTCAAGTGATCCTCTGGCCTTAGTCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCCCACCTGGTGATCCTCTGGAGTTTAGACACAACTGACCAGCATGAACATTAAAACACAGATAGTAAGACTGACAAAACAAACTCTCTGTAGCAATAAGATACCAAATTCCAAACTGATTCTGGTATAGCACCATATGACAGATAGCAGGCCCTAAAGGAAATCAAAGTATTTTACCCCAAAAGATATTTCTTTGACATATTTTGAAATGGCCCTGCAAAACTCTCTTGTGGGGGGAAATTTGCATTCTGTAGAGAAATCTCTTCCCCACACTAAGTCTTTTCTGGAAAGTCTGACACCTTTTAAGGTCAGATAACAGACATTCACCATCAATTCTCTCTGAAGCCAGCTACCTGGAGGCTTCATCTACATGACAAGAACCTTAGCTTCAGCTGGGTGCAGCACCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCATCAGATCAGGGGTCGAGACCAGCCTGGCCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCAGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCAATATTGCACCATTGCACTCCAGCCTGGGCAACAAGAACGACACTCTGTCTCCAAAAAAAAAAAAAAAAAAACCTTGGCTTCCACAACCCTCCTTATCTTAACTCAAGCTGACTTCAATTCTTCA
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ATCTAGAACAGTGCTTATCATATACCAGGGGTTCCATAAAGATCTGTAGATTAAGTGTAAAAATGAATAAAATTTCAGGTACTCTACGAAGGCTGTAGATTCAAAGATGTTCATATGCTTTATTTATTCATTTCTTTTTCTTTCTTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTCCACTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCCGTGATTACAGGTGTATGCCACCACGCCCAGGTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCTAGACTGGTCTCAAACGCCTGGCCTCAAGTGATGTGCCCACCTCAGCCTTCCAAAGCATTGGGATTACAGGTGTGAGCCACCATGGCTGGCCCTATTTTTCTTTCTTTCTTTTCTTTTTTTTTAGAGATGAGGACTTGCCATGTTGGCCAGGGCAGTCTTGAACTCTTGGCCTCAAGCAATTCTCCCAGCTTGGCCTCCCAAAGTGCTCAGATTACAGATGTGAGCCACCCTGCCCAGCCTATATGCTTTATTTAAAGCCCTAATTGTATCAACAGTGAGGAATGGTAAAGAAAATTATATTAGATGCAGTAAAAAGAGAAAGTTACTAGTAAGCAAGAGATCTGGGTTCACATCCTGACTCATCTACTTACTAGATGTATAAACTCAGGAAAGTTAAATCTGAATTAATTTCCTTAGCAAAATAATGCTTACTTTAAAAAGTTGTTCTAAGGGTTTAAATGCAAAAGTGACTAATAGAGCGCTATGTACTTATAAATGCATATCTGAGGTTAAGAAAGAGTAAGTTAGGCTGGGCGCAGTGGCTTATGCCTATAATCCCAGCACTTTGGGAGACCGAGGTGGGCGGATCACCTGAGCTCAGGAGTTAGAGGTCAGCCTGGGTAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCATGCCTGTAATCCCAGGTACTCAGGAGGCTGAGGGAGGAGAATCTCTTGAACCCAGGAGGCAGAGGGTGCAGTGAGTCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCACCTCAAAAAAAAAAAAAAAGAGTAAGTTAAACATTAGGACACGAAATATCTATGCTAACATTCCAAATATGAACAAAACTCACAAAGATAAAAAGCAATAACAATTGTTGGGGCGGTGAGAAATAAGTGAAATATTTTTCTTTCACATTTCTTTTATTATTATTTGCTGAGGCTGGAAGAGAAAGGGAGGCTGAATTGTTCACCATCACTCTCCCATATGCTGTGAGTTCTGCAAGGCCAAGGACTTTGTTTTGGTTACGTTTATATTTCCAGCAAATAGGACAGTATTAAGGCATTTACTAGTCAGTACACTTCTGATGGATGAATTACAAGGACAATGAGGTTTTAATGGACAAAGTTTTAAATGGTTCTTAATAGGTCACGCCAGACAGCTTCTAATCTAAATGTAAAGAATGCCTGGACTCCACAGGCCTGTAATTAGCTAGAAGCACCAGAGCCACAAGGAGGGTGGATGATCAAGCACTTACTTGCTGAGCTGGTAATCAGTGCCTTTGATGAACTTGAGCTTCTCCAAGGGCACACCAATGCTCTCCAGCATTGCTTTGATCACATTCTCATAGTAACTGACTCGGAGTTCTAGAAGTTCCCATGGGGCTTTCATGTTATCCAGGTATGCGTGGAGGTCCGCAAACAGAATTGTTACCTGGACAAGAGATAAGGGGCCACCAAAATGTGAATTTGTCCAATTACCTCCAACCTGTCTCCTCCAGCCCCACCCTGTCCTTGTTAAGTCTCTCTTGGGTCTCCCTTGGGTCATTCCCCAAGGGCTTATAGCATTAGTTCTTACCTCACACCCTGCCTTTAAGAAGTCTGCAATCTTTGACATGGGCACAAAGTAAGCCACATGTGGTTTGCCCGTGGTTGCCGTTCTCCAGTAAATTTTAAGTTCCCGCTCCTTCAGTATCTCCTTCAGCTTCTCTTCCCCCAGAACCTCCTATTGTGGAAGCAGAAGAGTTAGTTTAATGTCAGTGCCTCACCTTGCTCATCCTTTACCATGTGACAAGGAAAACAACAGCATGTGTCAGTGGAGATCCAGGCTCAGAGCCATCAAGGAGGTCCAGCCATGTTCTCAGTGCAGATGTGATACCCTACCTTGTTTTAATCTGAATTGACTCTCCCTTAGCTGAGAGAGCCAGACAAACTCCATTTTGGCTCCTTCACTTGTAGCCCCTTGCAGCCTCTTACCCACCCCCCTTCCTCAAGGACTTAACTTGTGCAAGCTGACTCCCAGCACATCAAAGAACGCAAATAACTGATAAGATATTGTGGAAAGCTATAGCCGCAGTTCCCAGGAATTTGCCCAGTTGATATTACCCTAAGCCCCAGCATTTGTGTCTGGTTGATGGTACCCAAAGCCTCCGCGTCTATCACCTTGTGATGGATTTAAAGCCCCTGCGCCCGGAACTGTTTGTTTTCCCGTAACCATTTGTCTTTCTAACTTTTTTGCCTGTTTTACTTCTGTAAGATTGCTTCAGCTAGGCTCCTCCTCCCCTTTCTAAACCAAAGTATAAAAGAAAATCTAGCACCTTCTTCGGGGCGGAGAGAATTTTGAGCACTAGCCATCTCTCGGTCGCTGGCTAATAAAGGACTCCTGAATTCATCTCAGAGTGTGGCGTTTCTCTATAACTCGCTCGGTTACAACGCGGAGAGCCAATGTAAAGTTGGTGCTGCTGCTAGTATCACCCTTGATGTTGGGGAGTGGGGACATGCCCCTAACTGCATCTTTGCCTGCAGCAGCTACCCGTAAACCAAAACTAAACTTTAAGCCCCCCAACTGTCGGAATGGACCCCACATTTTGGCCAACAGGATCCCAAAGAAACTTAAAAAACTAGTTCAGGCCAAGGCAGGAAGGAAGGGTCTGACATGCCTCATTATACCCTTCTCCCTTTGGAGTATATTTATTCATTTTTTTTTTGAGACAAGGTCTTGCTATGCTGCCCTGGCAGGAGTCCGGTTGTGCAAACACAGCTCACTGCAGCCTTGACCTCCAGGCTCAACAATCCTCCCACTTCAGCCTTCCAAGTAGCTTGGGGCTACCAGCACATGTATGCCTGGCTAGTTTTTTCAGTTTAGTAGAGAAGTCTCACTATGTTGCCCAGGCTGGTCTCGAACTCTTGGCCTCAAGTGATCCTCTGGCCTTAGTCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCCCACCTGGTGATCCTCTGGAGTTTAGACACAACTGACCAGCATGAACATTAAAACACAGATAGTAAGACTGACAAAACAAACTCTCTGTAGCAATAAGATACCAAATTCCAAACTGATTCTGGTATAGCACCATATGACAGATAGCAGGCCCTAAAGGAAATCAAAGTATTTTACCCCAAAAGATATTTCTTTGACATATTTTGAAATGGCCCTGCAAAACTCTCTTGTGGGGGGAAATTTGCATTCTGTAGAGAAATCTCTTCCCCACACTAAGTCTTTTCTGGAAAGTCTGACACCTTTTAAGGTCAGATAACAGACATTCACCATCAATTCTCTCTGAAGCCAGCTACCTGGAGGCTTCATCTACATGACAAGAACCTTAGCTTCAGCTGGGTGCAGCACCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCATCAGATCAGGGGTCGAGACCAGCCTGGCCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCAGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCAATATTGCACCATTGCACTCCAGCCTGGGCAACAAGAACGACACTCTGTCTCCAAAAAAAAAAAAAAAAAAACCTTGGCTTCCACAACCCTCCTTATCTTAACTCAAGCTGACTTCAATTCTTCA
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Task1_train_643
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Gene HPCA (hippocalcin) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Torsion dystonia 2
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CCTTCTCATTTCCTTAGCCCTTTCCCACTCACTTGTCCGGTGGGTCCTTAGCCTGGGCCATAAGAGGCTGGTCTAGAAAGGAGGGGCACCAACTTACAGAAACATGCATGTGACACACCGCCGAGGACACACACGGGTCCTCCAAATGGCCACACGGGCTCATTCCCTCACGCTGTGACGGGTGCATACCTGATCACATGCACATCTGAGGCACATGCAGGGACATAGATGGAAAGACACGGCAGGCAAATGCAATGCAAAAACCAGCGGCACACATCATGCATGAGCACATGCACTCACAACACACCCATTCACATGTGTGCAGAGCTTCATGCACATGTATGCACAAGGAGGCCCCTCCTTGCCCTAAGTGGGTGGGGGTCACCTGCACACACGCCTACATCCTTGTGCAGAACTGGCTGGCTGTTTCCTCTTCATTGCCTTCTACTCAGCCTCCACAATCTAACCTGCACTCAGGGGACCTTTCAGGACTAGATGAAGGGTAAGTGTTGGGGAGGCTTGGATGGGCTTGGTGGGGGGTCTCCTTGGAAAAGGGGCCCCGAGCAGGTCTGGGAAGGTTTGCAGCTCCCTCTCCTGGGACCTGGCAGCACCCCTGGGAAAACAGAAGGAAAACAAAGAAAAATGGCAAGGGTGCCTGAAGGTCCCACGTGCAGCTGGCCATGTGAGAGGTGTCGGCATGCGAGTTGGCGTGTGATGGCATGTGTGAGACATGTGGGGTCGTGGGCTGGTGTGTCTTGATGCACAGGGTATGGGAGTTGTGCGTGGTGCCATGTGTCGATTCGTGTGAGTTGTGGAGCAGAGGGAATGTCGTCATGTGTGGAGGCATGCTGACCCATGGGTGGGCGTGGGCTGGTACGTGAGTGGCATGGGATCCAGGGTGTGGATCTGGTGAGCTATGAAGCATACAGTTATCGGTATACATTCATTTGCACAGTTTTTGCATGAGTTTTGTGGCACCTGGGTATATGTAAGTCATTTTTATTTATTTAACATTTATGTAGCACTTATCTATGCAGCCATGGTTCTAAGTGCTTCACACATATTAACTAATTTAATCCCCAAAACAATCCTCTTAGGTAAGTACTGTTATTACCCCACTTTAAAGATAAGGCAGAGAGAGTTTAAGGAACTTGCCCAAGGTCACATAGCTGGTAAGAGGAGGAGCTGGGATTCAAACCTAGGTGATCTGACTCTGGAGCCCACAGTAACACCTCCCTCTGCTGCCTCTTGTTGGGCACACCTGTCAGAGGGAGAACAGGGCAGTGTCTGGGCTGCGGGTATATTCAGTGCTGAGCAGGCACATGTGAGGCAATGAGAAGGCAGTGGGTAGGACGGAGGAGGATCAGAAGGTTTTTCTGCACCTCTGTGGGCAACTCTAGGAGTCAGCCTCATAATGCCATGGCTGTGTGACCTGAAGCAGCCACCTCACGTCTGTAAGCCTGCCTTCTCATCTGTAAAATGGGGCAAATCCCCATACAACCTGTTGCGAAAGTGAATTGGTGTGCATTTGTGAAGGCTTAGTGGCTGGCACCTAGAAGGGCCTCAGTAAATGTGAACCACCCTTCCCTTCCTCCCTCTCCCAGGAAAGCGTATGGTCCAGGGAGATGGTGTGGAGCATGGCATAGATACAGGATGCCTGGGTCTAGGCTGTGTGACCTTGGGCCAGTTCCTCTCTTTCACTGGGCCAAACAAGAGGCAGGGATGGCTGTTGGCAGGGGGGCCCATCTGGAGCAGTGTCTAGTAGCCAGGAGGGCCTGATCACTCCTCTCTGCCCTTGACCCCCTTGGGGACCCAGGTGGGACTTGGCTCGGCGGCCATGGGCAAGCAGAACAGCAAGCTGCGGCCCGAGATGTTGCAGGACCTGCGAGAGAACACAGAGTTCTCAGAGCTGGAGCTGCAGGAGTGGTACAAGGGCTTCCTCAAGGACTGCCCCACAGGAATCCTCAATGTGGATGAGTTCAAGAAGATCTACGCCAACTTCTTTCCCTATGGTGACGCCTCCAAGTTTGCCGAGCACGTCTTCCGCACCTTTGACACCAACAGCGATGGCACCATAGACTTTCGGGAGTTCATCATTGCGCTGAGCGTGACCTCGCGCGGCCGCCTGGAGCAGAAGCTCATGTGGGCCTTCAGCATGTATGACCTGGACGGCAACGGCTACATCAGCCGGGAGGAGATGCTGGAGATCGTGCAGGTGGGCCCCTGGGCCCCTCAGAATGCCAGGCACAGGGCCCGGCAGCTTGCACCCACCACCCCTTTTGATCCTCTCAGCAGACCTCGTAGGCATGTGGTGGCAGGGGATATTCTTGCAATCCCATTTTAAAAATTGTTTTTAGGAAATATTTCCCATTTAAAGAAAAGTTGAGAAAACTCCCCTATACCCTCTACCCAGATTCACCAATTAACATTTTCCCACAGTTGCTTCATCATTATCAGTGTGTGTGTGCGTGTGTGCACACTAGTGTGTAACATTTTCTTGCTGTTCTGAACATTGGCCCTTTACCCCTGGATACATTAGGATATATTTCCTAAAAATAAGCACATTCTCTTACATAACCCATAATATGATTACCAAAGCCAGGATATTTAACATAGAAACAATGCTATTATCTAATCTACCAACCATATTCCAATTTTGCCAACTGTCTCCATAATGTTCTTTATAGCATTTTTGGCCCTGACCTGGGGTCATGCATTGCATCTAGTTCTCATGTCTCTTTAGCCCCCTTTAATCTGGAATAGCTCCTCATCCTTTCTTTATCTTTTATGAATTGACATTTCTGCAGAGCACAGTCCAGCTATGTCTAGTTGATCCTCATTTACACCAGAGGAAACGGATGCTCAGAGAGATAAAGGCACTTGCTTGAGGCCACACAGCCTGTGTGAGTGGGCCATCTGGCACCACTGTCTACATTCCATCTGGATACCCAGCCATCTTCTAACTAATTGATTGAGGGCCCACTATGAGCCTAGCATTGAGTGAGGTGCTCATGAGCTCAGTGCGTGCTTACAACAACCCCATGAGGCTCAGAGAGGTGAGGTGATGTGCCCAAAATCACACAGCACATAAGTGGAGAAAAGCTCTGGCTGGCCACTACTTAGAGCTGTCTACTGAGAGGGCTCTGGACTCATAGCCAGGAGGTCTGGCTTCCAGTTCTGGAAGTGGCCTTCAATCTTAGGTTGCTCATCTGTACGCTCATACTGACTTCACAAGGAGATTTAAGGACCGGATATAAATGCCTTTTGTTAGTACAAGTTTAAGTGTGCTGCATGTTAGCTTTATTTCAGAAACCACCCATCCCCTCAGCCCAGCCTTGAAGATGGCCAGGGCTCTGGCTCTATTTTATCTGCCTTTTTCCTAAGGCTTTACACATTTTTTCACCTGTAAAGTGGGGGTGTTAATCCCCTGCCTCACAAGGCTATTGCAGGGATAGAGTGAGATAAGGACTTGAGCGGAAGGCTTGGCATATAATTGGTACTTGGTAGACATTAGCAATTGTCTGTTATTATTTTCTCCTCTGCACATCCTCTGCTCTAGCCAGAAGGGCCTTTTCAGCATCTTTGAAATGTGCCCTGACTAATCCTGTCACGCAGCTTTGCACAAGCTCTTGCCCCCTTTCCTTCTGCATCTCTGAATCCTTTCCCTTCTGGTCCCTCAGCTCCACAGACTGCTGCCCCAGCCACTGCTGGACTCTTGACTTTGGCTTCTCCTCTTGCTAAGGTCTGGGTCTTCTCTCCAGGTGGAGATGTGATGCCCTCCCCATACCTATGGCTAGAGAGGGGAAAGCCCTAATGTTTGCCATGGACTCCTGTGAGCCAGGCATTTGACTCTTTAGTTGCTTGATGGTAGGGGGATCTGGGGGTCCTGATGGTAGGGCCAGGTGGCCAGAATGGTGGAGGATCACCCGGACATGGACAGCAGCTGGGTACTGACTATCTGAAGGAATGTTGGCATTTTACCACTTAGTGTGTTGCACTGGTGTGTACTGGTAAACCCCAGTCCTGCTGGAGCCACCACGCCCGGGTGTCAGTCAAGCTAGACCCATTCCCTGGGCATCCTCAGGACCCCTTTCTG
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CCTTCTCATTTCCTTAGCCCTTTCCCACTCACTTGTCCGGTGGGTCCTTAGCCTGGGCCATAAGAGGCTGGTCTAGAAAGGAGGGGCACCAACTTACAGAAACATGCATGTGACACACCGCCGAGGACACACACGGGTCCTCCAAATGGCCACACGGGCTCATTCCCTCACGCTGTGACGGGTGCATACCTGATCACATGCACATCTGAGGCACATGCAGGGACATAGATGGAAAGACACGGCAGGCAAATGCAATGCAAAAACCAGCGGCACACATCATGCATGAGCACATGCACTCACAACACACCCATTCACATGTGTGCAGAGCTTCATGCACATGTATGCACAAGGAGGCCCCTCCTTGCCCTAAGTGGGTGGGGGTCACCTGCACACACGCCTACATCCTTGTGCAGAACTGGCTGGCTGTTTCCTCTTCATTGCCTTCTACTCAGCCTCCACAATCTAACCTGCACTCAGGGGACCTTTCAGGACTAGATGAAGGGTAAGTGTTGGGGAGGCTTGGATGGGCTTGGTGGGGGGTCTCCTTGGAAAAGGGGCCCCGAGCAGGTCTGGGAAGGTTTGCAGCTCCCTCTCCTGGGACCTGGCAGCACCCCTGGGAAAACAGAAGGAAAACAAAGAAAAATGGCAAGGGTGCCTGAAGGTCCCACGTGCAGCTGGCCATGTGAGAGGTGTCGGCATGCGAGTTGGCGTGTGATGGCATGTGTGAGACATGTGGGGTCGTGGGCTGGTGTGTCTTGATGCACAGGGTATGGGAGTTGTGCGTGGTGCCATGTGTCGATTCGTGTGAGTTGTGGAGCAGAGGGAATGTCGTCATGTGTGGAGGCATGCTGACCCATGGGTGGGCGTGGGCTGGTACGTGAGTGGCATGGGATCCAGGGTGTGGATCTGGTGAGCTATGAAGCATACAGTTATCGGTATACATTCATTTGCACAGTTTTTGCATGAGTTTTGTGGCACCTGGGTATATGTAAGTCATTTTTATTTATTTAACATTTATGTAGCACTTATCTATGCAGCCATGGTTCTAAGTGCTTCACACATATTAACTAATTTAATCCCCAAAACAATCCTCTTAGGTAAGTACTGTTATTACCCCACTTTAAAGATAAGGCAGAGAGAGTTTAAGGAACTTGCCCAAGGTCACATAGCTGGTAAGAGGAGGAGCTGGGATTCAAACCTAGGTGATCTGACTCTGGAGCCCACAGTAACACCTCCCTCTGCTGCCTCTTGTTGGGCACACCTGTCAGAGGGAGAACAGGGCAGTGTCTGGGCTGCGGGTATATTCAGTGCTGAGCAGGCACATGTGAGGCAATGAGAAGGCAGTGGGTAGGACGGAGGAGGATCAGAAGGTTTTTCTGCACCTCTGTGGGCAACTCTAGGAGTCAGCCTCATAATGCCATGGCTGTGTGACCTGAAGCAGCCACCTCACGTCTGTAAGCCTGCCTTCTCATCTGTAAAATGGGGCAAATCCCCATACAACCTGTTGCGAAAGTGAATTGGTGTGCATTTGTGAAGGCTTAGTGGCTGGCACCTAGAAGGGCCTCAGTAAATGTGAACCACCCTTCCCTTCCTCCCTCTCCCAGGAAAGCGTATGGTCCAGGGAGATGGTGTGGAGCATGGCATAGATACAGGATGCCTGGGTCTAGGCTGTGTGACCTTGGGCCAGTTCCTCTCTTTCACTGGGCCAAACAAGAGGCAGGGATGGCTGTTGGCAGGGGGGCCCATCTGGAGCAGTGTCTAGTAGCCAGGAGGGCCTGATCACTCCTCTCTGCCCTTGACCCCCTTGGGGACCCAGGTGGGACTTGGCTCGGCGGCCATGGGCAAGCAGAACAGCAAGCTGCGGCCCGAGATGTTGCAGGACCTGCGAGAGAACACAGAGTTCTCAGAGCTGGAGCTGCAGGAGTGGTACAAGGGCTTCCTCAAGGACTGCCCCACAGGAATCCTCAATGTGGATGAGTTCAAGAAGATCTACGCCAACTTCTTTCCCTATGGTGACGCCTCCAAGTTTGCCGAGCACGTCTTCCGCAACTTTGACACCAACAGCGATGGCACCATAGACTTTCGGGAGTTCATCATTGCGCTGAGCGTGACCTCGCGCGGCCGCCTGGAGCAGAAGCTCATGTGGGCCTTCAGCATGTATGACCTGGACGGCAACGGCTACATCAGCCGGGAGGAGATGCTGGAGATCGTGCAGGTGGGCCCCTGGGCCCCTCAGAATGCCAGGCACAGGGCCCGGCAGCTTGCACCCACCACCCCTTTTGATCCTCTCAGCAGACCTCGTAGGCATGTGGTGGCAGGGGATATTCTTGCAATCCCATTTTAAAAATTGTTTTTAGGAAATATTTCCCATTTAAAGAAAAGTTGAGAAAACTCCCCTATACCCTCTACCCAGATTCACCAATTAACATTTTCCCACAGTTGCTTCATCATTATCAGTGTGTGTGTGCGTGTGTGCACACTAGTGTGTAACATTTTCTTGCTGTTCTGAACATTGGCCCTTTACCCCTGGATACATTAGGATATATTTCCTAAAAATAAGCACATTCTCTTACATAACCCATAATATGATTACCAAAGCCAGGATATTTAACATAGAAACAATGCTATTATCTAATCTACCAACCATATTCCAATTTTGCCAACTGTCTCCATAATGTTCTTTATAGCATTTTTGGCCCTGACCTGGGGTCATGCATTGCATCTAGTTCTCATGTCTCTTTAGCCCCCTTTAATCTGGAATAGCTCCTCATCCTTTCTTTATCTTTTATGAATTGACATTTCTGCAGAGCACAGTCCAGCTATGTCTAGTTGATCCTCATTTACACCAGAGGAAACGGATGCTCAGAGAGATAAAGGCACTTGCTTGAGGCCACACAGCCTGTGTGAGTGGGCCATCTGGCACCACTGTCTACATTCCATCTGGATACCCAGCCATCTTCTAACTAATTGATTGAGGGCCCACTATGAGCCTAGCATTGAGTGAGGTGCTCATGAGCTCAGTGCGTGCTTACAACAACCCCATGAGGCTCAGAGAGGTGAGGTGATGTGCCCAAAATCACACAGCACATAAGTGGAGAAAAGCTCTGGCTGGCCACTACTTAGAGCTGTCTACTGAGAGGGCTCTGGACTCATAGCCAGGAGGTCTGGCTTCCAGTTCTGGAAGTGGCCTTCAATCTTAGGTTGCTCATCTGTACGCTCATACTGACTTCACAAGGAGATTTAAGGACCGGATATAAATGCCTTTTGTTAGTACAAGTTTAAGTGTGCTGCATGTTAGCTTTATTTCAGAAACCACCCATCCCCTCAGCCCAGCCTTGAAGATGGCCAGGGCTCTGGCTCTATTTTATCTGCCTTTTTCCTAAGGCTTTACACATTTTTTCACCTGTAAAGTGGGGGTGTTAATCCCCTGCCTCACAAGGCTATTGCAGGGATAGAGTGAGATAAGGACTTGAGCGGAAGGCTTGGCATATAATTGGTACTTGGTAGACATTAGCAATTGTCTGTTATTATTTTCTCCTCTGCACATCCTCTGCTCTAGCCAGAAGGGCCTTTTCAGCATCTTTGAAATGTGCCCTGACTAATCCTGTCACGCAGCTTTGCACAAGCTCTTGCCCCCTTTCCTTCTGCATCTCTGAATCCTTTCCCTTCTGGTCCCTCAGCTCCACAGACTGCTGCCCCAGCCACTGCTGGACTCTTGACTTTGGCTTCTCCTCTTGCTAAGGTCTGGGTCTTCTCTCCAGGTGGAGATGTGATGCCCTCCCCATACCTATGGCTAGAGAGGGGAAAGCCCTAATGTTTGCCATGGACTCCTGTGAGCCAGGCATTTGACTCTTTAGTTGCTTGATGGTAGGGGGATCTGGGGGTCCTGATGGTAGGGCCAGGTGGCCAGAATGGTGGAGGATCACCCGGACATGGACAGCAGCTGGGTACTGACTATCTGAAGGAATGTTGGCATTTTACCACTTAGTGTGTTGCACTGGTGTGTACTGGTAAACCCCAGTCCTGCTGGAGCCACCACGCCCGGGTGTCAGTCAAGCTAGACCCATTCCCTGGGCATCCTCAGGACCCCTTTCTG
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Task1_train_644
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This alteration in HPCA (hippocalcin) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Torsion dystonia 2
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TTAGCCCTTTCCCACTCACTTGTCCGGTGGGTCCTTAGCCTGGGCCATAAGAGGCTGGTCTAGAAAGGAGGGGCACCAACTTACAGAAACATGCATGTGACACACCGCCGAGGACACACACGGGTCCTCCAAATGGCCACACGGGCTCATTCCCTCACGCTGTGACGGGTGCATACCTGATCACATGCACATCTGAGGCACATGCAGGGACATAGATGGAAAGACACGGCAGGCAAATGCAATGCAAAAACCAGCGGCACACATCATGCATGAGCACATGCACTCACAACACACCCATTCACATGTGTGCAGAGCTTCATGCACATGTATGCACAAGGAGGCCCCTCCTTGCCCTAAGTGGGTGGGGGTCACCTGCACACACGCCTACATCCTTGTGCAGAACTGGCTGGCTGTTTCCTCTTCATTGCCTTCTACTCAGCCTCCACAATCTAACCTGCACTCAGGGGACCTTTCAGGACTAGATGAAGGGTAAGTGTTGGGGAGGCTTGGATGGGCTTGGTGGGGGGTCTCCTTGGAAAAGGGGCCCCGAGCAGGTCTGGGAAGGTTTGCAGCTCCCTCTCCTGGGACCTGGCAGCACCCCTGGGAAAACAGAAGGAAAACAAAGAAAAATGGCAAGGGTGCCTGAAGGTCCCACGTGCAGCTGGCCATGTGAGAGGTGTCGGCATGCGAGTTGGCGTGTGATGGCATGTGTGAGACATGTGGGGTCGTGGGCTGGTGTGTCTTGATGCACAGGGTATGGGAGTTGTGCGTGGTGCCATGTGTCGATTCGTGTGAGTTGTGGAGCAGAGGGAATGTCGTCATGTGTGGAGGCATGCTGACCCATGGGTGGGCGTGGGCTGGTACGTGAGTGGCATGGGATCCAGGGTGTGGATCTGGTGAGCTATGAAGCATACAGTTATCGGTATACATTCATTTGCACAGTTTTTGCATGAGTTTTGTGGCACCTGGGTATATGTAAGTCATTTTTATTTATTTAACATTTATGTAGCACTTATCTATGCAGCCATGGTTCTAAGTGCTTCACACATATTAACTAATTTAATCCCCAAAACAATCCTCTTAGGTAAGTACTGTTATTACCCCACTTTAAAGATAAGGCAGAGAGAGTTTAAGGAACTTGCCCAAGGTCACATAGCTGGTAAGAGGAGGAGCTGGGATTCAAACCTAGGTGATCTGACTCTGGAGCCCACAGTAACACCTCCCTCTGCTGCCTCTTGTTGGGCACACCTGTCAGAGGGAGAACAGGGCAGTGTCTGGGCTGCGGGTATATTCAGTGCTGAGCAGGCACATGTGAGGCAATGAGAAGGCAGTGGGTAGGACGGAGGAGGATCAGAAGGTTTTTCTGCACCTCTGTGGGCAACTCTAGGAGTCAGCCTCATAATGCCATGGCTGTGTGACCTGAAGCAGCCACCTCACGTCTGTAAGCCTGCCTTCTCATCTGTAAAATGGGGCAAATCCCCATACAACCTGTTGCGAAAGTGAATTGGTGTGCATTTGTGAAGGCTTAGTGGCTGGCACCTAGAAGGGCCTCAGTAAATGTGAACCACCCTTCCCTTCCTCCCTCTCCCAGGAAAGCGTATGGTCCAGGGAGATGGTGTGGAGCATGGCATAGATACAGGATGCCTGGGTCTAGGCTGTGTGACCTTGGGCCAGTTCCTCTCTTTCACTGGGCCAAACAAGAGGCAGGGATGGCTGTTGGCAGGGGGGCCCATCTGGAGCAGTGTCTAGTAGCCAGGAGGGCCTGATCACTCCTCTCTGCCCTTGACCCCCTTGGGGACCCAGGTGGGACTTGGCTCGGCGGCCATGGGCAAGCAGAACAGCAAGCTGCGGCCCGAGATGTTGCAGGACCTGCGAGAGAACACAGAGTTCTCAGAGCTGGAGCTGCAGGAGTGGTACAAGGGCTTCCTCAAGGACTGCCCCACAGGAATCCTCAATGTGGATGAGTTCAAGAAGATCTACGCCAACTTCTTTCCCTATGGTGACGCCTCCAAGTTTGCCGAGCACGTCTTCCGCACCTTTGACACCAACAGCGATGGCACCATAGACTTTCGGGAGTTCATCATTGCGCTGAGCGTGACCTCGCGCGGCCGCCTGGAGCAGAAGCTCATGTGGGCCTTCAGCATGTATGACCTGGACGGCAACGGCTACATCAGCCGGGAGGAGATGCTGGAGATCGTGCAGGTGGGCCCCTGGGCCCCTCAGAATGCCAGGCACAGGGCCCGGCAGCTTGCACCCACCACCCCTTTTGATCCTCTCAGCAGACCTCGTAGGCATGTGGTGGCAGGGGATATTCTTGCAATCCCATTTTAAAAATTGTTTTTAGGAAATATTTCCCATTTAAAGAAAAGTTGAGAAAACTCCCCTATACCCTCTACCCAGATTCACCAATTAACATTTTCCCACAGTTGCTTCATCATTATCAGTGTGTGTGTGCGTGTGTGCACACTAGTGTGTAACATTTTCTTGCTGTTCTGAACATTGGCCCTTTACCCCTGGATACATTAGGATATATTTCCTAAAAATAAGCACATTCTCTTACATAACCCATAATATGATTACCAAAGCCAGGATATTTAACATAGAAACAATGCTATTATCTAATCTACCAACCATATTCCAATTTTGCCAACTGTCTCCATAATGTTCTTTATAGCATTTTTGGCCCTGACCTGGGGTCATGCATTGCATCTAGTTCTCATGTCTCTTTAGCCCCCTTTAATCTGGAATAGCTCCTCATCCTTTCTTTATCTTTTATGAATTGACATTTCTGCAGAGCACAGTCCAGCTATGTCTAGTTGATCCTCATTTACACCAGAGGAAACGGATGCTCAGAGAGATAAAGGCACTTGCTTGAGGCCACACAGCCTGTGTGAGTGGGCCATCTGGCACCACTGTCTACATTCCATCTGGATACCCAGCCATCTTCTAACTAATTGATTGAGGGCCCACTATGAGCCTAGCATTGAGTGAGGTGCTCATGAGCTCAGTGCGTGCTTACAACAACCCCATGAGGCTCAGAGAGGTGAGGTGATGTGCCCAAAATCACACAGCACATAAGTGGAGAAAAGCTCTGGCTGGCCACTACTTAGAGCTGTCTACTGAGAGGGCTCTGGACTCATAGCCAGGAGGTCTGGCTTCCAGTTCTGGAAGTGGCCTTCAATCTTAGGTTGCTCATCTGTACGCTCATACTGACTTCACAAGGAGATTTAAGGACCGGATATAAATGCCTTTTGTTAGTACAAGTTTAAGTGTGCTGCATGTTAGCTTTATTTCAGAAACCACCCATCCCCTCAGCCCAGCCTTGAAGATGGCCAGGGCTCTGGCTCTATTTTATCTGCCTTTTTCCTAAGGCTTTACACATTTTTTCACCTGTAAAGTGGGGGTGTTAATCCCCTGCCTCACAAGGCTATTGCAGGGATAGAGTGAGATAAGGACTTGAGCGGAAGGCTTGGCATATAATTGGTACTTGGTAGACATTAGCAATTGTCTGTTATTATTTTCTCCTCTGCACATCCTCTGCTCTAGCCAGAAGGGCCTTTTCAGCATCTTTGAAATGTGCCCTGACTAATCCTGTCACGCAGCTTTGCACAAGCTCTTGCCCCCTTTCCTTCTGCATCTCTGAATCCTTTCCCTTCTGGTCCCTCAGCTCCACAGACTGCTGCCCCAGCCACTGCTGGACTCTTGACTTTGGCTTCTCCTCTTGCTAAGGTCTGGGTCTTCTCTCCAGGTGGAGATGTGATGCCCTCCCCATACCTATGGCTAGAGAGGGGAAAGCCCTAATGTTTGCCATGGACTCCTGTGAGCCAGGCATTTGACTCTTTAGTTGCTTGATGGTAGGGGGATCTGGGGGTCCTGATGGTAGGGCCAGGTGGCCAGAATGGTGGAGGATCACCCGGACATGGACAGCAGCTGGGTACTGACTATCTGAAGGAATGTTGGCATTTTACCACTTAGTGTGTTGCACTGGTGTGTACTGGTAAACCCCAGTCCTGCTGGAGCCACCACGCCCGGGTGTCAGTCAAGCTAGACCCATTCCCTGGGCATCCTCAGGACCCCTTTCTGGTGGCCTCTGCTA
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TTAGCCCTTTCCCACTCACTTGTCCGGTGGGTCCTTAGCCTGGGCCATAAGAGGCTGGTCTAGAAAGGAGGGGCACCAACTTACAGAAACATGCATGTGACACACCGCCGAGGACACACACGGGTCCTCCAAATGGCCACACGGGCTCATTCCCTCACGCTGTGACGGGTGCATACCTGATCACATGCACATCTGAGGCACATGCAGGGACATAGATGGAAAGACACGGCAGGCAAATGCAATGCAAAAACCAGCGGCACACATCATGCATGAGCACATGCACTCACAACACACCCATTCACATGTGTGCAGAGCTTCATGCACATGTATGCACAAGGAGGCCCCTCCTTGCCCTAAGTGGGTGGGGGTCACCTGCACACACGCCTACATCCTTGTGCAGAACTGGCTGGCTGTTTCCTCTTCATTGCCTTCTACTCAGCCTCCACAATCTAACCTGCACTCAGGGGACCTTTCAGGACTAGATGAAGGGTAAGTGTTGGGGAGGCTTGGATGGGCTTGGTGGGGGGTCTCCTTGGAAAAGGGGCCCCGAGCAGGTCTGGGAAGGTTTGCAGCTCCCTCTCCTGGGACCTGGCAGCACCCCTGGGAAAACAGAAGGAAAACAAAGAAAAATGGCAAGGGTGCCTGAAGGTCCCACGTGCAGCTGGCCATGTGAGAGGTGTCGGCATGCGAGTTGGCGTGTGATGGCATGTGTGAGACATGTGGGGTCGTGGGCTGGTGTGTCTTGATGCACAGGGTATGGGAGTTGTGCGTGGTGCCATGTGTCGATTCGTGTGAGTTGTGGAGCAGAGGGAATGTCGTCATGTGTGGAGGCATGCTGACCCATGGGTGGGCGTGGGCTGGTACGTGAGTGGCATGGGATCCAGGGTGTGGATCTGGTGAGCTATGAAGCATACAGTTATCGGTATACATTCATTTGCACAGTTTTTGCATGAGTTTTGTGGCACCTGGGTATATGTAAGTCATTTTTATTTATTTAACATTTATGTAGCACTTATCTATGCAGCCATGGTTCTAAGTGCTTCACACATATTAACTAATTTAATCCCCAAAACAATCCTCTTAGGTAAGTACTGTTATTACCCCACTTTAAAGATAAGGCAGAGAGAGTTTAAGGAACTTGCCCAAGGTCACATAGCTGGTAAGAGGAGGAGCTGGGATTCAAACCTAGGTGATCTGACTCTGGAGCCCACAGTAACACCTCCCTCTGCTGCCTCTTGTTGGGCACACCTGTCAGAGGGAGAACAGGGCAGTGTCTGGGCTGCGGGTATATTCAGTGCTGAGCAGGCACATGTGAGGCAATGAGAAGGCAGTGGGTAGGACGGAGGAGGATCAGAAGGTTTTTCTGCACCTCTGTGGGCAACTCTAGGAGTCAGCCTCATAATGCCATGGCTGTGTGACCTGAAGCAGCCACCTCACGTCTGTAAGCCTGCCTTCTCATCTGTAAAATGGGGCAAATCCCCATACAACCTGTTGCGAAAGTGAATTGGTGTGCATTTGTGAAGGCTTAGTGGCTGGCACCTAGAAGGGCCTCAGTAAATGTGAACCACCCTTCCCTTCCTCCCTCTCCCAGGAAAGCGTATGGTCCAGGGAGATGGTGTGGAGCATGGCATAGATACAGGATGCCTGGGTCTAGGCTGTGTGACCTTGGGCCAGTTCCTCTCTTTCACTGGGCCAAACAAGAGGCAGGGATGGCTGTTGGCAGGGGGGCCCATCTGGAGCAGTGTCTAGTAGCCAGGAGGGCCTGATCACTCCTCTCTGCCCTTGACCCCCTTGGGGACCCAGGTGGGACTTGGCTCGGCGGCCATGGGCAAGCAGAACAGCAAGCTGCGGCCCGAGATGTTGCAGGACCTGCGAGAGAACACAGAGTTCTCAGAGCTGGAGCTGCAGGAGTGGTACAAGGGCTTCCTCAAGGACTGCCCCACAGGAATCCTCAATGTGGATGAGTTCAAGAAGATCTACGCCAACTTCTTTCCCTATGGTGACGCCTCCAAGTTTGCCGAGCACGTCTTCCGCACCTTTGACACCAAAAGCGATGGCACCATAGACTTTCGGGAGTTCATCATTGCGCTGAGCGTGACCTCGCGCGGCCGCCTGGAGCAGAAGCTCATGTGGGCCTTCAGCATGTATGACCTGGACGGCAACGGCTACATCAGCCGGGAGGAGATGCTGGAGATCGTGCAGGTGGGCCCCTGGGCCCCTCAGAATGCCAGGCACAGGGCCCGGCAGCTTGCACCCACCACCCCTTTTGATCCTCTCAGCAGACCTCGTAGGCATGTGGTGGCAGGGGATATTCTTGCAATCCCATTTTAAAAATTGTTTTTAGGAAATATTTCCCATTTAAAGAAAAGTTGAGAAAACTCCCCTATACCCTCTACCCAGATTCACCAATTAACATTTTCCCACAGTTGCTTCATCATTATCAGTGTGTGTGTGCGTGTGTGCACACTAGTGTGTAACATTTTCTTGCTGTTCTGAACATTGGCCCTTTACCCCTGGATACATTAGGATATATTTCCTAAAAATAAGCACATTCTCTTACATAACCCATAATATGATTACCAAAGCCAGGATATTTAACATAGAAACAATGCTATTATCTAATCTACCAACCATATTCCAATTTTGCCAACTGTCTCCATAATGTTCTTTATAGCATTTTTGGCCCTGACCTGGGGTCATGCATTGCATCTAGTTCTCATGTCTCTTTAGCCCCCTTTAATCTGGAATAGCTCCTCATCCTTTCTTTATCTTTTATGAATTGACATTTCTGCAGAGCACAGTCCAGCTATGTCTAGTTGATCCTCATTTACACCAGAGGAAACGGATGCTCAGAGAGATAAAGGCACTTGCTTGAGGCCACACAGCCTGTGTGAGTGGGCCATCTGGCACCACTGTCTACATTCCATCTGGATACCCAGCCATCTTCTAACTAATTGATTGAGGGCCCACTATGAGCCTAGCATTGAGTGAGGTGCTCATGAGCTCAGTGCGTGCTTACAACAACCCCATGAGGCTCAGAGAGGTGAGGTGATGTGCCCAAAATCACACAGCACATAAGTGGAGAAAAGCTCTGGCTGGCCACTACTTAGAGCTGTCTACTGAGAGGGCTCTGGACTCATAGCCAGGAGGTCTGGCTTCCAGTTCTGGAAGTGGCCTTCAATCTTAGGTTGCTCATCTGTACGCTCATACTGACTTCACAAGGAGATTTAAGGACCGGATATAAATGCCTTTTGTTAGTACAAGTTTAAGTGTGCTGCATGTTAGCTTTATTTCAGAAACCACCCATCCCCTCAGCCCAGCCTTGAAGATGGCCAGGGCTCTGGCTCTATTTTATCTGCCTTTTTCCTAAGGCTTTACACATTTTTTCACCTGTAAAGTGGGGGTGTTAATCCCCTGCCTCACAAGGCTATTGCAGGGATAGAGTGAGATAAGGACTTGAGCGGAAGGCTTGGCATATAATTGGTACTTGGTAGACATTAGCAATTGTCTGTTATTATTTTCTCCTCTGCACATCCTCTGCTCTAGCCAGAAGGGCCTTTTCAGCATCTTTGAAATGTGCCCTGACTAATCCTGTCACGCAGCTTTGCACAAGCTCTTGCCCCCTTTCCTTCTGCATCTCTGAATCCTTTCCCTTCTGGTCCCTCAGCTCCACAGACTGCTGCCCCAGCCACTGCTGGACTCTTGACTTTGGCTTCTCCTCTTGCTAAGGTCTGGGTCTTCTCTCCAGGTGGAGATGTGATGCCCTCCCCATACCTATGGCTAGAGAGGGGAAAGCCCTAATGTTTGCCATGGACTCCTGTGAGCCAGGCATTTGACTCTTTAGTTGCTTGATGGTAGGGGGATCTGGGGGTCCTGATGGTAGGGCCAGGTGGCCAGAATGGTGGAGGATCACCCGGACATGGACAGCAGCTGGGTACTGACTATCTGAAGGAATGTTGGCATTTTACCACTTAGTGTGTTGCACTGGTGTGTACTGGTAAACCCCAGTCCTGCTGGAGCCACCACGCCCGGGTGTCAGTCAAGCTAGACCCATTCCCTGGGCATCCTCAGGACCCCTTTCTGGTGGCCTCTGCTA
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Task1_train_645
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A mutation in AK2 (adenylate kinase 2), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Reticular dysgenesis
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CTGGACTTCTAATCAGCTGCTGGAAATGGAAGAAATACTATGAGGTTCTGGAATTGCGGTCCCTGGAAGATTACCTGGGTTAGTTCATTTTGGTCAAAAAATAAAATCAAAAGTATGGTTAAAGAAGTAAACAGCTGGGCTGGGTGTAGTGGCTCACGTCTGTGATCCTGGCACTTCAGGAGGCCAAGGTGGGTGGATTGCTTAAGCCTAGGAGTTCAAGACCAGCCTGGGCAACTTGGCAAAATCCTGTCTCTACAAAAAATACAAATATCAGCCAGGTGTTGTGGCATGCACCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGATAATTGCTTGAGCCCCAGGAGGCAGAGGTTGCCGTGAGCCAAGATCACGCCACTGCACTCCAGCCAGGGTGGCAGAGCGAAACCTTGTCTCAAAACAACAACAAAAAAGAAGTAAACAGCTGGTAAAGCAACCTAGCCTAAAACTTACAAAGTAGCAGAGTGAACACATATGTGCATGCACACACACACACACACAACACACATACACACAGATGAGAGTAGCACACACGCCAAAGATACATCAAGCAAGTGCTTTTTTAATCAATACATCAAATGATATTTTTGCTAGCCTGAGGAAGCTTCTCTTTGCCTGTCCTATCATTCCCACCCATTGCCTCACAGGGATGGAAAGAAATTCCTTCTTGGACCCAACATTAGATAAACATAACCAAGTCTTTACATGTGGCTTTGGAGAAGGCTGCTAGGATGCTTGCGAACACGACATCGGGGGTCTGGGATGCATCGATGGCGGAGTGGATCCCCCGTTTCCTGTAGTACTCTATGAGTGGGGTGGTTTGAGTGTGGTAGGCTTGCAGGCGGATTTTCAAGGCCTTTTCATTATCATCTGATCGACGGATCAAGGGTTCCCCGGTGATCTGAGAACAGGAAGACAGCAATGAAAGGCTGGGACTGTTAGCAAGGTTTTCTTATTCCATGCCAGATGCAGATTTGAGATGGGACCATTCTGCCCAGGATGCTGTCTGTTCCCAAAGCCCATCAGAGACAAAGACAGGCAATCCAGACCCTCTCCAGTGAAGAACTTTGCTACTCCCAGGAGCAGAGCAGCTGGTGAACAGAAGTCAGAGAGTTTGTCAGAAACACCAACTGTGAGGAAAGGGGCTCATGAGGGGAAGATAGGCAATGACTTTCTCATCTTTGTGCTCAGGCGATTCAGCTTCCAAGATAAACACTTCTAGGGTCAAAAGTAAGGAAGTCAAAAAGGCCCCTAAGACCAGAATACATCAAAATCAAAGATACATTAGCAATTGTAATCTTAGTTGCTTAAATATTTAGTGTATTTACTAGAGTGTCACCCATCAACATTCTAAAAGTGGCAAGTAAAATAAGAACTTTCAATGGTAGAATTAGCAACTTTGCAAAATGTGACTAAGTTGCCATAACGGCTCTGGAACCTGTATTTATAGAACCTGAATGACCTGATGAACTTGTTTCATAGGACAAAGGTAAACCCAGGAAATTCTTACTGTTGCCTGCATGCTTTAAAACAAACCATATAGACTCTTTATGGCAAATGGTGCAGTGACCATGTATGAAACCCCAGGACACAGTACAGCAGCAATAACTATAAAAAGAATATTTTTCTGGAGGACTGGTCATCAAACTTCTCTTCAGTGCCACACTCTTCCCACTCTCCAATTGTAGGCTTTTAAGAAAGCTTCTCCTGATTAGCTGATCACTTAGGTGGCCATGATGCCAGAAAAGGGGCTGCTCTTGACAGAAGACAGGTACAATCTGGGCACTGCAAAAAGCTAGCACCACTGGAAGCAACCTTGAGGCCAAGCAATAAACCACCTGAGGAGACACTGAATAGATCTGACACAGGCCATGTGATTTACTTGATAGTGTTATTTTTCATGACTAAGTTAGTAATATTGGTAGAAATAAAAGGAAGATGGAAAGAATAAAGGAAAAAGAAAAACAGTGAAGAAAGGGGAAGGAAAGAAAAGGAAATTTTTTGTCCTGAGTTTACATACGTCATCTTTCATGGGCTCTTTTGGAGGGTTGAACTCCTCGTGGTAGGAACGGCCACTCTTGGGGTGAATCAGCCTGAAAGACAGCAAATGAATATGAGTTAGGTTAACTGACAGTACGCGCCTGCACTCCACTCTAGGGGGCTCCAGAATGACAAGCAGAGATAGGGACGCTGGATGCAAGGACCCAGCACCCAGCAGAAAATCCAGCTAAATAACTGGGCTTCCAGGAGAGCTTATGCCAGCGGCAGAGTATATTTTCTATTTTGACCAAACATTATTATGAGTATCTGGCTGAAGAGCAAACTGCTGGCATAACTACCTAATTCAGGACTTGAGAGAAGGAACTCTGGTGCTGGTCTCACACAGCCATCCATTCTGTTCACCCATTTACTTAACAAACATTAATAAGTATTCCATTCAAGCCTTAAGCTGAATTCAGAAGCTACAAAGCAATGAGTAATGATCCCTGCTCACAAGTAGTGCTTAGTGGGAGAGACAAATGTGGAAATAAATAACAAACGTGATAATCCTTTAACAGAGATTTGTACAAAGTGCTATGGGGGACAGAGGACAAAGAAATGAACTCTATTTTCTAACCTAGTTTGGTTACAAAACCAGGAAGGTACTAACAGGAAAAATAATTCCCATGGATGCAAACACTGCCAGATAATGGAACACATCTTTTCAATCACACAGATAAAAGATAGCCTAACCCTTATGGAGCAATATTCAAGTAATCGGGAAAAATGACTTATTAAACAAGTCATGGAATATAGAGCTCAAGAACAGGCATTTATTTGGCACTGAATGTATAGTGGGCAGCTGCATCTGTGCTGAGTCCCTACAGACAACAAGCCCATGTTCCTGACTGGGAATGGCCACACCACAGGAGCCTAGAAACCTAAGGAAAGGAGGCAGGCCAAGCTCTGCTCAGCAGCCAGGCCTTGCTTCACTTCTGTGGTTTCTCAATTCTCTGCCAACCAAGTGTTTGTTTGCTTATTTAACTAATGGTTGCTTTTCTCATGAAGGTCTATTAGACTAGAGCTCCCTAATATTTTTCACCATTTGGCAGGCATAGCAATATTTGGGCCGGGCCCAGCAGCTTATGCCTGTGATCCCAACACTTTGGGAGGCTGAGGGGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACGTGGCGAAACCCCGTTTCTACTAAAAATATGAAAAATTTAGCTGGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAACCTGGGGGTGGAGGTTGCAGTGAACCGAGATCATACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTGTCTCAAAAAAATAAAATAAATAAAAATTCTATTCAATTCTATTTAGACTATTGAAGTAGCACCTCTGTAAAATGTGCTACTTTCTTTTTTGTTAATCACAGCATATTTTGGGGGGACAAGATGGTCCATTTGGCATAAAGTGGCACTGGGTTATGGGCAGGAGGGAGGTGACAGTAGAGAAAATAAGCTATAGAGTCATCCCTTGGTATCCATGGGGGGATTGGTTCCAGGAGCCCCCTCTGTGGATACCAAAATCCATAGATGCTCAAGTCCCTGATATAAAATGGTACAGCATTTCCATATAACCTATGCATATCCTCCTGTGTACTTTTATTTTTATTTTATTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGTTGGAATACAGTGGCGCGGTCTCTGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCAAGCCTGGCTAATTTTTTGTATATTTAGTAGAAACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTTCCGAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGTCTATTTATTTTATTTTTTGAGACATGGTCTTGCTCTGTTGTCCAGGCTGGAGTGCAATGGCAAT
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CTGGACTTCTAATCAGCTGCTGGAAATGGAAGAAATACTATGAGGTTCTGGAATTGCGGTCCCTGGAAGATTACCTGGGTTAGTTCATTTTGGTCAAAAAATAAAATCAAAAGTATGGTTAAAGAAGTAAACAGCTGGGCTGGGTGTAGTGGCTCACGTCTGTGATCCTGGCACTTCAGGAGGCCAAGGTGGGTGGATTGCTTAAGCCTAGGAGTTCAAGACCAGCCTGGGCAACTTGGCAAAATCCTGTCTCTACAAAAAATACAAATATCAGCCAGGTGTTGTGGCATGCACCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGATAATTGCTTGAGCCCCAGGAGGCAGAGGTTGCCGTGAGCCAAGATCACGCCACTGCACTCCAGCCAGGGTGGCAGAGCGAAACCTTGTCTCAAAACAACAACAAAAAAGAAGTAAACAGCTGGTAAAGCAACCTAGCCTAAAACTTACAAAGTAGCAGAGTGAACACATATGTGCATGCACACACACACACACACAACACACATACACACAGATGAGAGTAGCACACACGCCAAAGATACATCAAGCAAGTGCTTTTTTAATCAATACATCAAATGATATTTTTGCTAGCCTGAGGAAGCTTCTCTTTGCCTGTCCTATCATTCCCACCCATTGCCTCACAGGGATGGAAAGAAATTCCTTCTTGGACCCAACATTAGATAAACATAACCAAGTCTTTACATGTGGCTTTGGAGAAGGCTGCTAGGATGCTTGCGAACACGACATCGGGGGTCTGGGATGCATCGATGGCGGAGTGGATCCCCCGTTTCCTGTAGTACTCTATGAGTGGGGTGGTTTGAGTGTGGTAGGCTTGCAGGCGGATTTTCAAGGCCTTTTCATTATCATCTGATCGACGGATCAAGGGTTCCCCGGTGATCTGAGAACAGGAAGACAGCAATGAAAGGCTGGGACTGTTAGCAAGGTTTTCTTATTCCATGCCAGATGCAGATTTGAGATGGGACCATTCTGCCCAGGATGCTGTCTGTTCCCAAAGCCCATCAGAGACAAAGACAGGCAATCCAGACCCTCTCCAGTGAAGAACTTTGCTACTCCCAGGAGCAGAGCAGCTGGTGAACAGAAGTCAGAGAGTTTGTCAGAAACACCAACTGTGAGGAAAGGGGCTCATGAGGGGAAGATAGGCAATGACTTTCTCATCTTTGTGCTCAGGCGATTCAGCTTCCAAGATAAACACTTCTAGGGTCAAAAGTAAGGAAGTCAAAAAGGCCCCTAAGACCAGAATACATCAAAATCAAAGATACATTAGCAATTGTAATCTTAGTTGCTTAAATATTTAGTGTATTTACTAGAGTGTCACCCATCAACATTCTAAAAGTGGCAAGTAAAATAAGAACTTTCAATGGTAGAATTAGCAACTTTGCAAAATGTGACTAAGTTGCCATAACGGCTCTGGAACCTGTATTTATAGAACCTGAATGACCTGATGAACTTGTTTCATAGGACAAAGGTAAACCCAGGAAATTCTTACTGTTGCCTGCATGCTTTAAAACAAACCATATAGACTCTTTATGGCAAATGGTGCAGTGACCATGTATGAAACCCCAGGACACAGTACAGCAGCAATAACTATAAAAAGAATATTTTTCTGGAGGACTGGTCATCAAACTTCTCTTCAGTGCCACACTCTTCCCACTCTCCAATTGTAGGCTTTTAAGAAAGCTTCTCCTGATTAGCTGATCACTTAGGTGGCCATGATGCCAGAAAAGGGGCTGCTCTTGACAGAAGACAGGTACAATCTGGGCACTGCAAAAAGCTAGCACCACTGGAAGCAACCTTGAGGCCAAGCAATAAACCACCTGAGGAGACACTGAATAGATCTGACACAGGCCATGTGATTTACTTGATAGTGTTATTTTTCATGACTAAGTTAGTAATATTGGTAGAAATAAAAGGAAGATGGAAAGAATAAAGGAAAAAGAAAAACAGTGAAGAAAGGGGAAGGAAAGAAAAGGAAATTTTTTGTCCTGAGTTTACATACGTCACCTTTCATGGGCTCTTTTGGAGGGTTGAACTCCTCGTGGTAGGAACGGCCACTCTTGGGGTGAATCAGCCTGAAAGACAGCAAATGAATATGAGTTAGGTTAACTGACAGTACGCGCCTGCACTCCACTCTAGGGGGCTCCAGAATGACAAGCAGAGATAGGGACGCTGGATGCAAGGACCCAGCACCCAGCAGAAAATCCAGCTAAATAACTGGGCTTCCAGGAGAGCTTATGCCAGCGGCAGAGTATATTTTCTATTTTGACCAAACATTATTATGAGTATCTGGCTGAAGAGCAAACTGCTGGCATAACTACCTAATTCAGGACTTGAGAGAAGGAACTCTGGTGCTGGTCTCACACAGCCATCCATTCTGTTCACCCATTTACTTAACAAACATTAATAAGTATTCCATTCAAGCCTTAAGCTGAATTCAGAAGCTACAAAGCAATGAGTAATGATCCCTGCTCACAAGTAGTGCTTAGTGGGAGAGACAAATGTGGAAATAAATAACAAACGTGATAATCCTTTAACAGAGATTTGTACAAAGTGCTATGGGGGACAGAGGACAAAGAAATGAACTCTATTTTCTAACCTAGTTTGGTTACAAAACCAGGAAGGTACTAACAGGAAAAATAATTCCCATGGATGCAAACACTGCCAGATAATGGAACACATCTTTTCAATCACACAGATAAAAGATAGCCTAACCCTTATGGAGCAATATTCAAGTAATCGGGAAAAATGACTTATTAAACAAGTCATGGAATATAGAGCTCAAGAACAGGCATTTATTTGGCACTGAATGTATAGTGGGCAGCTGCATCTGTGCTGAGTCCCTACAGACAACAAGCCCATGTTCCTGACTGGGAATGGCCACACCACAGGAGCCTAGAAACCTAAGGAAAGGAGGCAGGCCAAGCTCTGCTCAGCAGCCAGGCCTTGCTTCACTTCTGTGGTTTCTCAATTCTCTGCCAACCAAGTGTTTGTTTGCTTATTTAACTAATGGTTGCTTTTCTCATGAAGGTCTATTAGACTAGAGCTCCCTAATATTTTTCACCATTTGGCAGGCATAGCAATATTTGGGCCGGGCCCAGCAGCTTATGCCTGTGATCCCAACACTTTGGGAGGCTGAGGGGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACGTGGCGAAACCCCGTTTCTACTAAAAATATGAAAAATTTAGCTGGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAACCTGGGGGTGGAGGTTGCAGTGAACCGAGATCATACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTGTCTCAAAAAAATAAAATAAATAAAAATTCTATTCAATTCTATTTAGACTATTGAAGTAGCACCTCTGTAAAATGTGCTACTTTCTTTTTTGTTAATCACAGCATATTTTGGGGGGACAAGATGGTCCATTTGGCATAAAGTGGCACTGGGTTATGGGCAGGAGGGAGGTGACAGTAGAGAAAATAAGCTATAGAGTCATCCCTTGGTATCCATGGGGGGATTGGTTCCAGGAGCCCCCTCTGTGGATACCAAAATCCATAGATGCTCAAGTCCCTGATATAAAATGGTACAGCATTTCCATATAACCTATGCATATCCTCCTGTGTACTTTTATTTTTATTTTATTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGTTGGAATACAGTGGCGCGGTCTCTGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCAAGCCTGGCTAATTTTTTGTATATTTAGTAGAAACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTTCCGAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGTCTATTTATTTTATTTTTTGAGACATGGTCTTGCTCTGTTGTCCAGGCTGGAGTGCAATGGCAAT
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Task1_train_646
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With a mutation on Chromosome 1 in gene AK2, LOC129930068 (adenylate kinase 2| ATAC-STARR-seq lymphoblastoid active region 705), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Reticular dysgenesis
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GGCTTGTGCCTATAATCCCTGCACTTTGGGAGGTCAAGGCAGGATGATCGCCTGTGTCCAGGAGTTCAATACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAATTGTTTAAAAATTAGCTGGGCATGGTAGCATGTGCCTGTACTCCCAGCTACCTGGGAGGGTGAGGTGGGAGGATTGCTTGAGCTCACACCACTGCGCTCCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAGAAAAAGAAAAAGAAAAACAATGAAGCATTTGAGCTACTGTTTATACTTGATCACTCACAGCAAAAGTCTGCAGAGTCTAAGATTAAACTTCCCTAAGCTGCAGATTACCCAATAAATGAGTGTGGCAGCAACAGGAAAGAGATGTCAACAACGCTGAGGATAAAGGATAAAGGGATCAGGTACAGGTAAGCTCCAAAGAAGAATCATCTCAGTCTGTGGAGAGAAAAGAAAGCTGTATTTTCTGACTTAGTGCCCAGGTCACAGGAATGAATGGAGTGTTCCAGAACTTCTTTCTTTATCACCCACATTAATCTGTGACATTCATCCACTTCCACTAACCCCATCAAGGGCCAAGTAATGTGCTAGGTGCCACAAGGGGTACCAAGAATGAGTAAGATGGTCTGTTTGCCAAGATTTTTAAAACTTGGCAAGTGCTAGGAAGAGAAAAGCGGGCACAGGGCAGTCCTCAGATTCCCTTTCATTTGGGAGCTCAGACTTCCCTCTTTGAAGCCTAACAACAGGCAAGAGCCAGAGGCTTAGGGCCCCAGGTGCAATGCCAGACCCCAAGCAAGAAGGGGACATCAATAATCCAACCTGCGGGCTTCCAAATCCGAAATGAGATCATCGATCCCAACCCTAATCTATGGCCCCATTATGTCCCAGATCTAGAAGGGGCCCAGATCCCAAGTGAGGCCCCTGTTGCCTGCTAGGGCAGATGGTAACTTCAGACTCTAACTCCATGGTTCCTGAGGTCTCAGGCTCATGAAACTCATTTCACTAATTTGGGAAAGCCACCTGACCTTTCTGGGCCTGTTTTTTAACCTGTTGATTGATAAAGTTAAAATTTCAAGTTCCCTATAAACAACAACAAAATAAAAAAAGGAAAAAATAAATAAAAACCAAAGGGAAGGAAGATACAAACAAACAAAAATAATAAAAACAAAATAAAAAAAAATTCAAGTTCCTTTTCATCTAAAATCATTTGCGTCATCCCAAGCTGCTTAGCCTTCAGTAGCCTCAGGTCCTAACTCCAAGCCAGGTCCCATGAGCACTCCCAACCCTTATTGTGGACACTACTCAAAGGTTGCGACTCATGGGTCTCCAGGCTATAAACCAGTTCTACACATTCACCCCCAACTTTCAAACAGGGAGAGCCTTAGGTTTCCTCCCATCTCAATTCAACTGGCTCACACAGCACATGTCACCTCTCACTCTGCCCCACGTGTTGGAGATGCTTCTCCTCCCCTCCCCCTAAGTCATAAATCATTATCAAAATCTCCCGACCTCCAGTGCCTGGAATGTAACCCTGATTCTGGACAATTCACCTCCAACTCGCAGGTAACCTGGGCCATAAAGCTAATTGCCTCCATTCAGCCTGTAATCTAGATGCCTCGGCCCAGGGCTCACTCTACCCCTCAAACCTTTCCAGTCTCTAGACCCTTAGTGGAATTAATCAGCCCTCACATTCCCTAACCCAACACTTCAACACTGAATCCCTCGGGCACTCCAATCCTAACTCAGACTGCCCCGACCTCCAATTTGGACCCTCTCCGAAATGCCCCACCAGAACCGAGACCCCGGCCAGCGTTCCCCGCAGGCCTTAGTCCCCGGCCCGCTCCGGGCAGGTCCAGGGCTTCTAGATCTCCGGCCGCCTTGACCTTGGAGTTCAGCAGGCTCCGCCGCCAAGCCCAGTCCTGCCGCTCACCTGGGTCCCTTTACCGGCCCCGGGAGGCCCCAGCAGCACGGCCCGGATGCCTTTAGGATACTCGGGTTCTGCCGCTGGCACGCTGGGAGCCATGTCCGCCGAAGTCTCTCACTGCCACCAGTTCGCACGCCTCACAGGTCCAGTGCTTCCCAGGTCAACGCACGCACGCCACGCACGTCCCACTCGCCGCTCACACTGGCCCATAGCCGCGTCCGTCAGCCCGTTCCGCCCGCCCCTGAGCACGACGGACTCTTCACCTTACCAACTGCACGGCGATACTGAGGAACTTTGCTTTTGATTGGACAGAATTGGTGCGGGATAAGGAAGGGGCGGGCCAGCATGTACTAAGGGTGGCGGGTGTGCGGAGTGGGCGGGAAAACGCGAAGGAGGACAGGAGGTCAGGCCGGAAGGTATACTTCGGCATTTGACAGTTGACGACACCAGCAACAACATTGAAATCCTATTAAATTGCGCGTGGGAGTTTAAATGGGTAAAATCACTCTTAGAAGACAAATTAGTAATATGTTTCAAATACCCTTTGGTCCAGCAATTCCACTTCCACGAATTCAATGGATAAAATCAAGGATATGAGTAAAGATTCGTGTAACAAAGTTGTTAATTGCAACACTTAGCCCAAAAGCCCGAGAAAAACCATAAAATAAAGGCAATACTCCAAATGTCCAACAATAAGAGATTGGTTAAATAAATTGCAACCAATTTGTATCCTGGAATACCCCTGTTGTATAAGATAATTTAATCATGCGGGAAAATGTTAGCAAAGCGAGATACAAAATTGCAGTTACAACAAAATCCGAATTTTGGCCGGACGCGGTGGCTCACGCCTGTAATCCCCACACTTTGGGAGACCATGGCGAGCGGATTACCTGAGGTCAGAAGTTCGAGACCAGCCTGACCAACATGATGAAACCCCATCTCTACTGAAAATACAAAATTAGCTGGGAGTGGTGGCATATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCAAGATTGAGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCCCACTCCCCCCCCAAAAAATCCCGATTTTGTTTATTACAAGTGTAGACCGCTGTGTAGTGTGATTAGAGGAGCACCTCTCCTTTGTATATTTTAATAGATTTTTTAAAGTTCTATGGTAAATTCTTAATAAGTTTAAAAACTTAAGTTTAAAACAAGTTTTACCTTTATATTAAGAAAAACGTTAACCTTTTAAAGTCAGGAAAAGATAGTTTTTCTCAAAAGAGATGACCCTCTTGGATAGGGAAATAATTTCTACAGCTTTTTGGTGTGTGAAAGTTTCATCCAGCTCCAAGGGCCTCTTTGGACCTTTAGTTAAGAGTGTGTAATGAAACGATTATGTTTCCCCACAGGCTCCTAACAACTCATTTTCTACATCTTGATGATGAATTTGCTATCCCTTCAGCTGTGGTCTCTTCTTTTTTTTTTTTTTTTTGAGACGTGGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGACTATAGGTGCCCACCACCACGCCTGGCTAATTTTTTTTATACTTTTAGTAGACACGGGATTTCACCGTGTTAGTCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCGCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCAGCTGTGGTCTCTTCCTTACCACACAGAAGTCAACATTCATTTCTCATCGCCACGCTGGACTTTTACAGTGTACCTGCTTAATCTTGTTGGATACTCCCAATGACATTGAAGGAAGAAAGGATTGTTATGTCTATTATTCAGAATGGAAGCTGAGGCCTGAAGATACGTAGTGACCAAAGTCACACAGTAGCAGACTCACAATTAAGACTGAGGATGAGCCAGGTCCAGTGACTCACGCCTGTAATCCCAGCACTTTGAGAGCCTGAGGGGGGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGC
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GGCTTGTGCCTATAATCCCTGCACTTTGGGAGGTCAAGGCAGGATGATCGCCTGTGTCCAGGAGTTCAATACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAATTGTTTAAAAATTAGCTGGGCATGGTAGCATGTGCCTGTACTCCCAGCTACCTGGGAGGGTGAGGTGGGAGGATTGCTTGAGCTCACACCACTGCGCTCCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAGAAAAAGAAAAAGAAAAACAATGAAGCATTTGAGCTACTGTTTATACTTGATCACTCACAGCAAAAGTCTGCAGAGTCTAAGATTAAACTTCCCTAAGCTGCAGATTACCCAATAAATGAGTGTGGCAGCAACAGGAAAGAGATGTCAACAACGCTGAGGATAAAGGATAAAGGGATCAGGTACAGGTAAGCTCCAAAGAAGAATCATCTCAGTCTGTGGAGAGAAAAGAAAGCTGTATTTTCTGACTTAGTGCCCAGGTCACAGGAATGAATGGAGTGTTCCAGAACTTCTTTCTTTATCACCCACATTAATCTGTGACATTCATCCACTTCCACTAACCCCATCAAGGGCCAAGTAATGTGCTAGGTGCCACAAGGGGTACCAAGAATGAGTAAGATGGTCTGTTTGCCAAGATTTTTAAAACTTGGCAAGTGCTAGGAAGAGAAAAGCGGGCACAGGGCAGTCCTCAGATTCCCTTTCATTTGGGAGCTCAGACTTCCCTCTTTGAAGCCTAACAACAGGCAAGAGCCAGAGGCTTAGGGCCCCAGGTGCAATGCCAGACCCCAAGCAAGAAGGGGACATCAATAATCCAACCTGCGGGCTTCCAAATCCGAAATGAGATCATCGATCCCAACCCTAATCTATGGCCCCATTATGTCCCAGATCTAGAAGGGGCCCAGATCCCAAGTGAGGCCCCTGTTGCCTGCTAGGGCAGATGGTAACTTCAGACTCTAACTCCATGGTTCCTGAGGTCTCAGGCTCATGAAACTCATTTCACTAATTTGGGAAAGCCACCTGACCTTTCTGGGCCTGTTTTTTAACCTGTTGATTGATAAAGTTAAAATTTCAAGTTCCCTATAAACAACAACAAAATAAAAAAAGGAAAAAATAAATAAAAACCAAAGGGAAGGAAGATACAAACAAACAAAAATAATAAAAACAAAATAAAAAAAAATTCAAGTTCCTTTTCATCTAAAATCATTTGCGTCATCCCAAGCTGCTTAGCCTTCAGTAGCCTCAGGTCCTAACTCCAAGCCAGGTCCCATGAGCACTCCCAACCCTTATTGTGGACACTACTCAAAGGTTGCGACTCATGGGTCTCCAGGCTATAAACCAGTTCTACACATTCACCCCCAACTTTCAAACAGGGAGAGCCTTAGGTTTCCTCCCATCTCAATTCAACTGGCTCACACAGCACATGTCACCTCTCACTCTGCCCCACGTGTTGGAGATGCTTCTCCTCCCCTCCCCCTAAGTCATAAATCATTATCAAAATCTCCCGACCTCCAGTGCCTGGAATGTAACCCTGATTCTGGACAATTCACCTCCAACTCGCAGGTAACCTGGGCCATAAAGCTAATTGCCTCCATTCAGCCTGTAATCTAGATGCCTCGGCCCAGGGCTCACTCTACCCCTCAAACCTTTCCAGTCTCTAGACCCTTAGTGGAATTAATCAGCCCTCACATTCCCTAACCCAACACTTCAACACTGAATCCCTCGGGCACTCCAATCCTAACTCAGACTGCCCCGACCTCCAATTTGGACCCTCTCCGAAATGCCCCACCAGAACCGAGACCCCGGCCAGCGTTCCCCGCAGGCCTTAGTCCCCGGCCCGCTCCGGGCAGGTCCAGGGCTTCTAGATCTCCGGCCGCCTTGACCTTGGAGTTCAGCAGGCTCCGCCGCCAAGCCCAGTCCTGCCGCTCACCTGGGTCCCTTTACCGGCCCCGGGAGGCCCCAGCAGCACGGCCCGGATGCCTTTAGGATACTCGGGTTCTGCCGCTGGCACGCTGGGAGCCACGTCCGCCGAAGTCTCTCACTGCCACCAGTTCGCACGCCTCACAGGTCCAGTGCTTCCCAGGTCAACGCACGCACGCCACGCACGTCCCACTCGCCGCTCACACTGGCCCATAGCCGCGTCCGTCAGCCCGTTCCGCCCGCCCCTGAGCACGACGGACTCTTCACCTTACCAACTGCACGGCGATACTGAGGAACTTTGCTTTTGATTGGACAGAATTGGTGCGGGATAAGGAAGGGGCGGGCCAGCATGTACTAAGGGTGGCGGGTGTGCGGAGTGGGCGGGAAAACGCGAAGGAGGACAGGAGGTCAGGCCGGAAGGTATACTTCGGCATTTGACAGTTGACGACACCAGCAACAACATTGAAATCCTATTAAATTGCGCGTGGGAGTTTAAATGGGTAAAATCACTCTTAGAAGACAAATTAGTAATATGTTTCAAATACCCTTTGGTCCAGCAATTCCACTTCCACGAATTCAATGGATAAAATCAAGGATATGAGTAAAGATTCGTGTAACAAAGTTGTTAATTGCAACACTTAGCCCAAAAGCCCGAGAAAAACCATAAAATAAAGGCAATACTCCAAATGTCCAACAATAAGAGATTGGTTAAATAAATTGCAACCAATTTGTATCCTGGAATACCCCTGTTGTATAAGATAATTTAATCATGCGGGAAAATGTTAGCAAAGCGAGATACAAAATTGCAGTTACAACAAAATCCGAATTTTGGCCGGACGCGGTGGCTCACGCCTGTAATCCCCACACTTTGGGAGACCATGGCGAGCGGATTACCTGAGGTCAGAAGTTCGAGACCAGCCTGACCAACATGATGAAACCCCATCTCTACTGAAAATACAAAATTAGCTGGGAGTGGTGGCATATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCAAGATTGAGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCCCACTCCCCCCCCAAAAAATCCCGATTTTGTTTATTACAAGTGTAGACCGCTGTGTAGTGTGATTAGAGGAGCACCTCTCCTTTGTATATTTTAATAGATTTTTTAAAGTTCTATGGTAAATTCTTAATAAGTTTAAAAACTTAAGTTTAAAACAAGTTTTACCTTTATATTAAGAAAAACGTTAACCTTTTAAAGTCAGGAAAAGATAGTTTTTCTCAAAAGAGATGACCCTCTTGGATAGGGAAATAATTTCTACAGCTTTTTGGTGTGTGAAAGTTTCATCCAGCTCCAAGGGCCTCTTTGGACCTTTAGTTAAGAGTGTGTAATGAAACGATTATGTTTCCCCACAGGCTCCTAACAACTCATTTTCTACATCTTGATGATGAATTTGCTATCCCTTCAGCTGTGGTCTCTTCTTTTTTTTTTTTTTTTTGAGACGTGGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGACTATAGGTGCCCACCACCACGCCTGGCTAATTTTTTTTATACTTTTAGTAGACACGGGATTTCACCGTGTTAGTCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCGCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCAGCTGTGGTCTCTTCCTTACCACACAGAAGTCAACATTCATTTCTCATCGCCACGCTGGACTTTTACAGTGTACCTGCTTAATCTTGTTGGATACTCCCAATGACATTGAAGGAAGAAAGGATTGTTATGTCTATTATTCAGAATGGAAGCTGAGGCCTGAAGATACGTAGTGACCAAAGTCACACAGTAGCAGACTCACAATTAAGACTGAGGATGAGCCAGGTCCAGTGACTCACGCCTGTAATCCCAGCACTTTGAGAGCCTGAGGGGGGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGC
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Task1_train_647
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This mutation is located in gene GJB4 (gap junction protein beta 4) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Erythrokeratodermia variabilis et progressiva 2
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ATTTCCTACACAATCCAAGAGCTTCCAGACTCCAGTCCCAGAAATATCCCACCACCAGAATGGGATGCGTTCCTGCACTAAATTAAGGTTGCCCCTTTCCGTAGATGTCAGCTGCTGAGACCTCAGTATCAGGCTTCCCAGGAAAAGGGCAGGAGAGAGGGCAAGGAGGCAGGGTAAGGAGGCAATGGGAAGGGGACAGGGTCAATCCCACTGGTGCTGTCCTAGGCCTAGGCATAATGATATCAGGCTCCTGAACCCCACACAGCAGTCTCACCCACATACCTGCCTGCCTGGGAGCCAGGCTCAGCCATACCCAGCCAGGCTAGAGAGGAGGCGTGGGCCAGGAGAGAAGAGCCGCAGGTGTTTGCTCTGAGTATGTGCCCGGGGAAGTCCGCCCTCCTGCCTGCCCACCCAATCACTCTCGCTTGGCTCATTGGCCCAGAAAGCCCCACCCAGCAAGGGAGAGAGGAACAAAAGCTGCCTCCGGGAGGTCCTGAGGCAAACAGACAAGCCCAAGGACAAGGAAGCAGCTACTGGACCCAAGAAGGGTGAGGACCGAATAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACCTCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCCCAGGGAAGTGCCAAGGAGGAGAAGGAATGTCCTGGCTGACCTAAGGGACGACAGAAGATTGGGGAAGAGGGGGTATCAGGAAGAAATGGGTTTCAGTTCAGTTTAACAAACATCTATTGTGTGTTCACTGGGCCAGGCCAGTGCTAGGTGCTAGGGAGACAGAGGTGAAGAGCCTGCCCTCTAGCAGCTGACAGCCTGGCAAAAAAATAAGACAGGTAAATAGACCATTTGGGTACAGGCGATGCCTCTTGCTCTGAAAGTGTCCCAGGCACACGATGTCTGAAGAGGCTGAGAGCAGAGTCAGGGATTGGGGATGGGGAAGGAGGAGGGTAGGAGGAGGGGAGGGTTGGACATGGGGCCTGATGGGGACTCCAGACAAGGGGGTGTGGAGGTCAGAGTCCACAGGAGAGGGGCCTGAGAGGAAATAATGGAAATGCGGCTAGCAAACAGCCACTAAATGGACAGAGGAGGGGGTGCCCCCAGAGAAAGTAAATGGGGGGTCCAGACCATGCCAGAATCCATCCTCAGTCCTTCCTAAAGCTGGAATGGTTGGAATTCCAGAGGAACCCACTGTGGTCAAGACAGTCAGCCCTCAGGCCCCAGCACCAGTACACGGGTTGGCAGGGATGATATCAAGTCCCCGTGATTCCAAAGCACCTCTGTTTAGTTTGGGAGGGAATGCCAGGGCTGAGAACCTTCCTGGAGCCAGAGGCAAGGAGTAAGGATGCAGATTGTTCTGGGATTTACCAAGGGGCTGATGTGAACGTCCCCAACACGGGGCCAGGCTCTTGTTGGTGTTCAGTAAAAGTGGGATGGATCTGACAACTGATAAGGATACGTTCCCACCCCTCCTGCCCTGGCCCAGCCCTGGCAGCTGATGGGAGAGCAGATCGTCCAATTCAAGCCTTCCTACGGTCTCTTTAGAAGACATGGGCTGAAACTTGGGGTAATAGAGGTTGGCTGGCATATCCATGCAGGATGATTGTCTTCACATGTATCTATTACCTTGTAGAATAAGGTAGACCCTGATTTTGGAACCTGAAGACCAAAGTGCAAGATTAGCTCTGCTACTTCCATCTGTGGACCATTGGGCAGGTATCTCTGGGCCTTCACTTACTCTTTGTGAAATGAGGACAGGGGCAATCCCTACCCTACCAAGTCATTGGGAGTGAAGACATGATGACACGGTGATTGTGAAAAGATTTTGTCAATCGCACCAGCATTAAGGGTGCCCATCTCCAGGTTCCCCCAGGCCTCAAGGCTCCCAAGGCCTGAGTGGGCAGGTAGCACCCAGGTATAGACCTTCCACGTGCAGCACCCAGGACACAGCCAGCATGAACTGGGCATTTCTGCAGGGCCTGCTGAGTGGCGTGAACAAGTACTCCACAGTGCTGAGCCGCATCTGGCTGTCTGTGGTGTTCATCTTTCGTGTGCTGGTGTACGTGGTGGCAGCGGAGGAGGTGTGGGACGATGAGCAGAAGGACTTTGTCTGCAACACCAAGCAGCCCGGCTGCCCCAACGTCTGCTATGACGAGTTCTTCCCCGTGTCCCACGTGCGCCTCTGGGCCCTACAGCTCATCCTGGTCACGTGCCCCTCACTGCTCGTGGTCATGCACGTGGCCTACCGCGAGGAACGCGAGCGCAAGCACCACCTGAAACACGGGCCCAATGCCCCGTCCCTGTACGACAACCTGAGCAAGAAGCGGGGCGGACTGTGGTGGACGTACTTGCTGAGCCTCATCTTCAAGGCCGCCGTGGATGCTGGCTTCCTCTATATCTTCCACCGCCTCTACAAGGATTATGACATGCCCCGCGTGGTGGCCTGCTCCGTGGAGCCTTGCCCCCACACTGTGGACTGTTACATCTCCCGGCCCACGGAGAAGAAGGTCTTCACCTACTTCATGGTGACCACAGCTGCCATCTGCATCCTGCTCAACCTCAGTGAAGTCTTCTACCTGGTGGGCAAGAGGTGCATGGAGATCTTCGGCCCCAGGCACCGGCGGCCTCGGTGCCGGGAATGCCTACCCGATACGTGCCCACCATATGTCCTCTCCCAGGGAGGGCACCCTGAGGATGGGAACTCTGTCCTAATGAAGGCTGGGTCGGCCCCAGTGGATGCAGGTGGGTATCCATAACCTGCGAGATCAGCAGATAAGATCAACAGGTCCCCCCCACATGAGGCCACCCAGGAAAAAAGGCAGGGGCAGTGGCATCCTTGCCGTAGCAGGGTGGTGAGGAGGGTGGCTGTGGGGGCTCAGGAAGCTCGCCCAGGGGCCAATGTGGGAGGTTGGGGGTAGTTTGGTCCCTGGGTCCTGAGCCTCAGGGGAGGGAGGTTGATAGCTACTGGGGATTTTGTATATGGCAACAGTATATGTCAAACCTCTTAATAAATATGATTTTCCCAGTACTTTGCAGACCAGGTGGGGAGTGGCCGATAGGAAAACGGGGGGCAGGGGGGATTAGGTGGACCTCAGAGAGGATGCCAAGACTACTCAGTGAGCACCTGAGCACTGGAACCTCAGATCCAGGCTCACCCATCACCCCCCAACACACACAGTGTGTGCCCCCAGAACATGATGGGCTGTGCCCAAAGGCAGAGGCTACTCCAGGGGCCTCTGGGTTGTGCAACCACCTGGCCAAAGCAGGAGGAGAGGAATTCCAGGAGACCCTGTGCCCAGCAGGAGTCAGTTCTCAGTGATCGTCCATCACAGGAATGAGCGTGGGTTGGGCCTCCCTAGCCCTGCCCAGCACAGGTCCCGGATAGGTGAGTCCCCTCTGACGGTGGGAGGGTCACGGCTGAGAGCAAGCCAGGGATGGGAATCTGTCAAGGTGCCCAAGAGGCACATCCTACAGGCCAGGGCCCACTGAGAGTGTCTGAGCTGAAAGGTCCCTTGTGGATCCTGGAGTCTATGGAATTTCATGTTCTTTTTCACTGATACAACTTCCCCATCCCATACTCCCCCACCCCACCACCACTCAGACTTTGGCAACTCCCAGAACCACACCTCCACCCTAACATGCCTCTGAGTCCCACCAAATGCCCACTAGACAATTCCCTGGGAGGCCCCCAGGCATCTCATACCCGCCACTCCCAAGCTGACCTCATCAGCTCACCCAGACCTGCCCCCTTGAAGATGCCCCACCCCATCTCATGCAGGACACAGCTATTCACCCAGCTGCCCAAGCCAGGGGACGAGACAAGCCTGACATCCTTGTCCCTCACACCCCACACCCCCACTGGCACCAAATCCCACTGATTCCAGTCCCTAAATGCCACCTGAATCTGCTCTTCCTCTCCTTACAACAACCTAACTACCTCCTGGACCTCCCCCATCTGCCCTCCGCTACAGGGATGGAGTGATTTATCTGTCTATGCAACTGACCATGTCATTCCACCTGCTTTAAAATTTCTTCCA
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ATTTCCTACACAATCCAAGAGCTTCCAGACTCCAGTCCCAGAAATATCCCACCACCAGAATGGGATGCGTTCCTGCACTAAATTAAGGTTGCCCCTTTCCGTAGATGTCAGCTGCTGAGACCTCAGTATCAGGCTTCCCAGGAAAAGGGCAGGAGAGAGGGCAAGGAGGCAGGGTAAGGAGGCAATGGGAAGGGGACAGGGTCAATCCCACTGGTGCTGTCCTAGGCCTAGGCATAATGATATCAGGCTCCTGAACCCCACACAGCAGTCTCACCCACATACCTGCCTGCCTGGGAGCCAGGCTCAGCCATACCCAGCCAGGCTAGAGAGGAGGCGTGGGCCAGGAGAGAAGAGCCGCAGGTGTTTGCTCTGAGTATGTGCCCGGGGAAGTCCGCCCTCCTGCCTGCCCACCCAATCACTCTCGCTTGGCTCATTGGCCCAGAAAGCCCCACCCAGCAAGGGAGAGAGGAACAAAAGCTGCCTCCGGGAGGTCCTGAGGCAAACAGACAAGCCCAAGGACAAGGAAGCAGCTACTGGACCCAAGAAGGGTGAGGACCGAATAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACCTCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCCCAGGGAAGTGCCAAGGAGGAGAAGGAATGTCCTGGCTGACCTAAGGGACGACAGAAGATTGGGGAAGAGGGGGTATCAGGAAGAAATGGGTTTCAGTTCAGTTTAACAAACATCTATTGTGTGTTCACTGGGCCAGGCCAGTGCTAGGTGCTAGGGAGACAGAGGTGAAGAGCCTGCCCTCTAGCAGCTGACAGCCTGGCAAAAAAATAAGACAGGTAAATAGACCATTTGGGTACAGGCGATGCCTCTTGCTCTGAAAGTGTCCCAGGCACACGATGTCTGAAGAGGCTGAGAGCAGAGTCAGGGATTGGGGATGGGGAAGGAGGAGGGTAGGAGGAGGGGAGGGTTGGACATGGGGCCTGATGGGGACTCCAGACAAGGGGGTGTGGAGGTCAGAGTCCACAGGAGAGGGGCCTGAGAGGAAATAATGGAAATGCGGCTAGCAAACAGCCACTAAATGGACAGAGGAGGGGGTGCCCCCAGAGAAAGTAAATGGGGGGTCCAGACCATGCCAGAATCCATCCTCAGTCCTTCCTAAAGCTGGAATGGTTGGAATTCCAGAGGAACCCACTGTGGTCAAGACAGTCAGCCCTCAGGCCCCAGCACCAGTACACGGGTTGGCAGGGATGATATCAAGTCCCCGTGATTCCAAAGCACCTCTGTTTAGTTTGGGAGGGAATGCCAGGGCTGAGAACCTTCCTGGAGCCAGAGGCAAGGAGTAAGGATGCAGATTGTTCTGGGATTTACCAAGGGGCTGATGTGAACGTCCCCAACACGGGGCCAGGCTCTTGTTGGTGTTCAGTAAAAGTGGGATGGATCTGACAACTGATAAGGATACGTTCCCACCCCTCCTGCCCTGGCCCAGCCCTGGCAGCTGATGGGAGAGCAGATCGTCCAATTCAAGCCTTCCTACGGTCTCTTTAGAAGACATGGGCTGAAACTTGGGGTAATAGAGGTTGGCTGGCATATCCATGCAGGATGATTGTCTTCACATGTATCTATTACCTTGTAGAATAAGGTAGACCCTGATTTTGGAACCTGAAGACCAAAGTGCAAGATTAGCTCTGCTACTTCCATCTGTGGACCATTGGGCAGGTATCTCTGGGCCTTCACTTACTCTTTGTGAAATGAGGACAGGGGCAATCCCTACCCTACCAAGTCATTGGGAGTGAAGACATGATGACACGGTGATTGTGAAAAGATTTTGTCAATCGCACCAGCATTAAGGGTGCCCATCTCCAGGTTCCCCCAGGCCTCAAGGCTCCCAAGGCCTGAGTGGGCAGGTAGCACCCAGGTATAGACCTTCCACGTGCAGCACCCAGGACACAGCCAGCATGAACTGGGCATTTCTGCAGGGCCTGCTGAGTGACGTGAACAAGTACTCCACAGTGCTGAGCCGCATCTGGCTGTCTGTGGTGTTCATCTTTCGTGTGCTGGTGTACGTGGTGGCAGCGGAGGAGGTGTGGGACGATGAGCAGAAGGACTTTGTCTGCAACACCAAGCAGCCCGGCTGCCCCAACGTCTGCTATGACGAGTTCTTCCCCGTGTCCCACGTGCGCCTCTGGGCCCTACAGCTCATCCTGGTCACGTGCCCCTCACTGCTCGTGGTCATGCACGTGGCCTACCGCGAGGAACGCGAGCGCAAGCACCACCTGAAACACGGGCCCAATGCCCCGTCCCTGTACGACAACCTGAGCAAGAAGCGGGGCGGACTGTGGTGGACGTACTTGCTGAGCCTCATCTTCAAGGCCGCCGTGGATGCTGGCTTCCTCTATATCTTCCACCGCCTCTACAAGGATTATGACATGCCCCGCGTGGTGGCCTGCTCCGTGGAGCCTTGCCCCCACACTGTGGACTGTTACATCTCCCGGCCCACGGAGAAGAAGGTCTTCACCTACTTCATGGTGACCACAGCTGCCATCTGCATCCTGCTCAACCTCAGTGAAGTCTTCTACCTGGTGGGCAAGAGGTGCATGGAGATCTTCGGCCCCAGGCACCGGCGGCCTCGGTGCCGGGAATGCCTACCCGATACGTGCCCACCATATGTCCTCTCCCAGGGAGGGCACCCTGAGGATGGGAACTCTGTCCTAATGAAGGCTGGGTCGGCCCCAGTGGATGCAGGTGGGTATCCATAACCTGCGAGATCAGCAGATAAGATCAACAGGTCCCCCCCACATGAGGCCACCCAGGAAAAAAGGCAGGGGCAGTGGCATCCTTGCCGTAGCAGGGTGGTGAGGAGGGTGGCTGTGGGGGCTCAGGAAGCTCGCCCAGGGGCCAATGTGGGAGGTTGGGGGTAGTTTGGTCCCTGGGTCCTGAGCCTCAGGGGAGGGAGGTTGATAGCTACTGGGGATTTTGTATATGGCAACAGTATATGTCAAACCTCTTAATAAATATGATTTTCCCAGTACTTTGCAGACCAGGTGGGGAGTGGCCGATAGGAAAACGGGGGGCAGGGGGGATTAGGTGGACCTCAGAGAGGATGCCAAGACTACTCAGTGAGCACCTGAGCACTGGAACCTCAGATCCAGGCTCACCCATCACCCCCCAACACACACAGTGTGTGCCCCCAGAACATGATGGGCTGTGCCCAAAGGCAGAGGCTACTCCAGGGGCCTCTGGGTTGTGCAACCACCTGGCCAAAGCAGGAGGAGAGGAATTCCAGGAGACCCTGTGCCCAGCAGGAGTCAGTTCTCAGTGATCGTCCATCACAGGAATGAGCGTGGGTTGGGCCTCCCTAGCCCTGCCCAGCACAGGTCCCGGATAGGTGAGTCCCCTCTGACGGTGGGAGGGTCACGGCTGAGAGCAAGCCAGGGATGGGAATCTGTCAAGGTGCCCAAGAGGCACATCCTACAGGCCAGGGCCCACTGAGAGTGTCTGAGCTGAAAGGTCCCTTGTGGATCCTGGAGTCTATGGAATTTCATGTTCTTTTTCACTGATACAACTTCCCCATCCCATACTCCCCCACCCCACCACCACTCAGACTTTGGCAACTCCCAGAACCACACCTCCACCCTAACATGCCTCTGAGTCCCACCAAATGCCCACTAGACAATTCCCTGGGAGGCCCCCAGGCATCTCATACCCGCCACTCCCAAGCTGACCTCATCAGCTCACCCAGACCTGCCCCCTTGAAGATGCCCCACCCCATCTCATGCAGGACACAGCTATTCACCCAGCTGCCCAAGCCAGGGGACGAGACAAGCCTGACATCCTTGTCCCTCACACCCCACACCCCCACTGGCACCAAATCCCACTGATTCCAGTCCCTAAATGCCACCTGAATCTGCTCTTCCTCTCCTTACAACAACCTAACTACCTCCTGGACCTCCCCCATCTGCCCTCCGCTACAGGGATGGAGTGATTTATCTGTCTATGCAACTGACCATGTCATTCCACCTGCTTTAAAATTTCTTCCA
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Task1_train_648
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The gene GJB4 (gap junction protein beta 4) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; not provided
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GTCCTAGGCCTAGGCATAATGATATCAGGCTCCTGAACCCCACACAGCAGTCTCACCCACATACCTGCCTGCCTGGGAGCCAGGCTCAGCCATACCCAGCCAGGCTAGAGAGGAGGCGTGGGCCAGGAGAGAAGAGCCGCAGGTGTTTGCTCTGAGTATGTGCCCGGGGAAGTCCGCCCTCCTGCCTGCCCACCCAATCACTCTCGCTTGGCTCATTGGCCCAGAAAGCCCCACCCAGCAAGGGAGAGAGGAACAAAAGCTGCCTCCGGGAGGTCCTGAGGCAAACAGACAAGCCCAAGGACAAGGAAGCAGCTACTGGACCCAAGAAGGGTGAGGACCGAATAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACCTCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCCCAGGGAAGTGCCAAGGAGGAGAAGGAATGTCCTGGCTGACCTAAGGGACGACAGAAGATTGGGGAAGAGGGGGTATCAGGAAGAAATGGGTTTCAGTTCAGTTTAACAAACATCTATTGTGTGTTCACTGGGCCAGGCCAGTGCTAGGTGCTAGGGAGACAGAGGTGAAGAGCCTGCCCTCTAGCAGCTGACAGCCTGGCAAAAAAATAAGACAGGTAAATAGACCATTTGGGTACAGGCGATGCCTCTTGCTCTGAAAGTGTCCCAGGCACACGATGTCTGAAGAGGCTGAGAGCAGAGTCAGGGATTGGGGATGGGGAAGGAGGAGGGTAGGAGGAGGGGAGGGTTGGACATGGGGCCTGATGGGGACTCCAGACAAGGGGGTGTGGAGGTCAGAGTCCACAGGAGAGGGGCCTGAGAGGAAATAATGGAAATGCGGCTAGCAAACAGCCACTAAATGGACAGAGGAGGGGGTGCCCCCAGAGAAAGTAAATGGGGGGTCCAGACCATGCCAGAATCCATCCTCAGTCCTTCCTAAAGCTGGAATGGTTGGAATTCCAGAGGAACCCACTGTGGTCAAGACAGTCAGCCCTCAGGCCCCAGCACCAGTACACGGGTTGGCAGGGATGATATCAAGTCCCCGTGATTCCAAAGCACCTCTGTTTAGTTTGGGAGGGAATGCCAGGGCTGAGAACCTTCCTGGAGCCAGAGGCAAGGAGTAAGGATGCAGATTGTTCTGGGATTTACCAAGGGGCTGATGTGAACGTCCCCAACACGGGGCCAGGCTCTTGTTGGTGTTCAGTAAAAGTGGGATGGATCTGACAACTGATAAGGATACGTTCCCACCCCTCCTGCCCTGGCCCAGCCCTGGCAGCTGATGGGAGAGCAGATCGTCCAATTCAAGCCTTCCTACGGTCTCTTTAGAAGACATGGGCTGAAACTTGGGGTAATAGAGGTTGGCTGGCATATCCATGCAGGATGATTGTCTTCACATGTATCTATTACCTTGTAGAATAAGGTAGACCCTGATTTTGGAACCTGAAGACCAAAGTGCAAGATTAGCTCTGCTACTTCCATCTGTGGACCATTGGGCAGGTATCTCTGGGCCTTCACTTACTCTTTGTGAAATGAGGACAGGGGCAATCCCTACCCTACCAAGTCATTGGGAGTGAAGACATGATGACACGGTGATTGTGAAAAGATTTTGTCAATCGCACCAGCATTAAGGGTGCCCATCTCCAGGTTCCCCCAGGCCTCAAGGCTCCCAAGGCCTGAGTGGGCAGGTAGCACCCAGGTATAGACCTTCCACGTGCAGCACCCAGGACACAGCCAGCATGAACTGGGCATTTCTGCAGGGCCTGCTGAGTGGCGTGAACAAGTACTCCACAGTGCTGAGCCGCATCTGGCTGTCTGTGGTGTTCATCTTTCGTGTGCTGGTGTACGTGGTGGCAGCGGAGGAGGTGTGGGACGATGAGCAGAAGGACTTTGTCTGCAACACCAAGCAGCCCGGCTGCCCCAACGTCTGCTATGACGAGTTCTTCCCCGTGTCCCACGTGCGCCTCTGGGCCCTACAGCTCATCCTGGTCACGTGCCCCTCACTGCTCGTGGTCATGCACGTGGCCTACCGCGAGGAACGCGAGCGCAAGCACCACCTGAAACACGGGCCCAATGCCCCGTCCCTGTACGACAACCTGAGCAAGAAGCGGGGCGGACTGTGGTGGACGTACTTGCTGAGCCTCATCTTCAAGGCCGCCGTGGATGCTGGCTTCCTCTATATCTTCCACCGCCTCTACAAGGATTATGACATGCCCCGCGTGGTGGCCTGCTCCGTGGAGCCTTGCCCCCACACTGTGGACTGTTACATCTCCCGGCCCACGGAGAAGAAGGTCTTCACCTACTTCATGGTGACCACAGCTGCCATCTGCATCCTGCTCAACCTCAGTGAAGTCTTCTACCTGGTGGGCAAGAGGTGCATGGAGATCTTCGGCCCCAGGCACCGGCGGCCTCGGTGCCGGGAATGCCTACCCGATACGTGCCCACCATATGTCCTCTCCCAGGGAGGGCACCCTGAGGATGGGAACTCTGTCCTAATGAAGGCTGGGTCGGCCCCAGTGGATGCAGGTGGGTATCCATAACCTGCGAGATCAGCAGATAAGATCAACAGGTCCCCCCCACATGAGGCCACCCAGGAAAAAAGGCAGGGGCAGTGGCATCCTTGCCGTAGCAGGGTGGTGAGGAGGGTGGCTGTGGGGGCTCAGGAAGCTCGCCCAGGGGCCAATGTGGGAGGTTGGGGGTAGTTTGGTCCCTGGGTCCTGAGCCTCAGGGGAGGGAGGTTGATAGCTACTGGGGATTTTGTATATGGCAACAGTATATGTCAAACCTCTTAATAAATATGATTTTCCCAGTACTTTGCAGACCAGGTGGGGAGTGGCCGATAGGAAAACGGGGGGCAGGGGGGATTAGGTGGACCTCAGAGAGGATGCCAAGACTACTCAGTGAGCACCTGAGCACTGGAACCTCAGATCCAGGCTCACCCATCACCCCCCAACACACACAGTGTGTGCCCCCAGAACATGATGGGCTGTGCCCAAAGGCAGAGGCTACTCCAGGGGCCTCTGGGTTGTGCAACCACCTGGCCAAAGCAGGAGGAGAGGAATTCCAGGAGACCCTGTGCCCAGCAGGAGTCAGTTCTCAGTGATCGTCCATCACAGGAATGAGCGTGGGTTGGGCCTCCCTAGCCCTGCCCAGCACAGGTCCCGGATAGGTGAGTCCCCTCTGACGGTGGGAGGGTCACGGCTGAGAGCAAGCCAGGGATGGGAATCTGTCAAGGTGCCCAAGAGGCACATCCTACAGGCCAGGGCCCACTGAGAGTGTCTGAGCTGAAAGGTCCCTTGTGGATCCTGGAGTCTATGGAATTTCATGTTCTTTTTCACTGATACAACTTCCCCATCCCATACTCCCCCACCCCACCACCACTCAGACTTTGGCAACTCCCAGAACCACACCTCCACCCTAACATGCCTCTGAGTCCCACCAAATGCCCACTAGACAATTCCCTGGGAGGCCCCCAGGCATCTCATACCCGCCACTCCCAAGCTGACCTCATCAGCTCACCCAGACCTGCCCCCTTGAAGATGCCCCACCCCATCTCATGCAGGACACAGCTATTCACCCAGCTGCCCAAGCCAGGGGACGAGACAAGCCTGACATCCTTGTCCCTCACACCCCACACCCCCACTGGCACCAAATCCCACTGATTCCAGTCCCTAAATGCCACCTGAATCTGCTCTTCCTCTCCTTACAACAACCTAACTACCTCCTGGACCTCCCCCATCTGCCCTCCGCTACAGGGATGGAGTGATTTATCTGTCTATGCAACTGACCATGTCATTCCACCTGCTTTAAAATTTCTTCCACCATCACCAGCCCCATGCCCTCAGCATGGCCCCCGCTGACCTCCCCACCTCATCCCAGCTTCCTCCCCTTTTCTACCTGCAAGTAATACCAAAGGGCTCCTGGTTCCCCAGGCAGACACGTCATGTGGTGTCATTCCTCGTGCCTTTGTCATGCTATTTCCTCTGGCTAGAATGCCCTTCCCACCCCCTCTGTGATCCTCCCTCGAACCTCTAGGACA
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GTCCTAGGCCTAGGCATAATGATATCAGGCTCCTGAACCCCACACAGCAGTCTCACCCACATACCTGCCTGCCTGGGAGCCAGGCTCAGCCATACCCAGCCAGGCTAGAGAGGAGGCGTGGGCCAGGAGAGAAGAGCCGCAGGTGTTTGCTCTGAGTATGTGCCCGGGGAAGTCCGCCCTCCTGCCTGCCCACCCAATCACTCTCGCTTGGCTCATTGGCCCAGAAAGCCCCACCCAGCAAGGGAGAGAGGAACAAAAGCTGCCTCCGGGAGGTCCTGAGGCAAACAGACAAGCCCAAGGACAAGGAAGCAGCTACTGGACCCAAGAAGGGTGAGGACCGAATAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACCTCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCCCAGGGAAGTGCCAAGGAGGAGAAGGAATGTCCTGGCTGACCTAAGGGACGACAGAAGATTGGGGAAGAGGGGGTATCAGGAAGAAATGGGTTTCAGTTCAGTTTAACAAACATCTATTGTGTGTTCACTGGGCCAGGCCAGTGCTAGGTGCTAGGGAGACAGAGGTGAAGAGCCTGCCCTCTAGCAGCTGACAGCCTGGCAAAAAAATAAGACAGGTAAATAGACCATTTGGGTACAGGCGATGCCTCTTGCTCTGAAAGTGTCCCAGGCACACGATGTCTGAAGAGGCTGAGAGCAGAGTCAGGGATTGGGGATGGGGAAGGAGGAGGGTAGGAGGAGGGGAGGGTTGGACATGGGGCCTGATGGGGACTCCAGACAAGGGGGTGTGGAGGTCAGAGTCCACAGGAGAGGGGCCTGAGAGGAAATAATGGAAATGCGGCTAGCAAACAGCCACTAAATGGACAGAGGAGGGGGTGCCCCCAGAGAAAGTAAATGGGGGGTCCAGACCATGCCAGAATCCATCCTCAGTCCTTCCTAAAGCTGGAATGGTTGGAATTCCAGAGGAACCCACTGTGGTCAAGACAGTCAGCCCTCAGGCCCCAGCACCAGTACACGGGTTGGCAGGGATGATATCAAGTCCCCGTGATTCCAAAGCACCTCTGTTTAGTTTGGGAGGGAATGCCAGGGCTGAGAACCTTCCTGGAGCCAGAGGCAAGGAGTAAGGATGCAGATTGTTCTGGGATTTACCAAGGGGCTGATGTGAACGTCCCCAACACGGGGCCAGGCTCTTGTTGGTGTTCAGTAAAAGTGGGATGGATCTGACAACTGATAAGGATACGTTCCCACCCCTCCTGCCCTGGCCCAGCCCTGGCAGCTGATGGGAGAGCAGATCGTCCAATTCAAGCCTTCCTACGGTCTCTTTAGAAGACATGGGCTGAAACTTGGGGTAATAGAGGTTGGCTGGCATATCCATGCAGGATGATTGTCTTCACATGTATCTATTACCTTGTAGAATAAGGTAGACCCTGATTTTGGAACCTGAAGACCAAAGTGCAAGATTAGCTCTGCTACTTCCATCTGTGGACCATTGGGCAGGTATCTCTGGGCCTTCACTTACTCTTTGTGAAATGAGGACAGGGGCAATCCCTACCCTACCAAGTCATTGGGAGTGAAGACATGATGACACGGTGATTGTGAAAAGATTTTGTCAATCGCACCAGCATTAAGGGTGCCCATCTCCAGGTTCCCCCAGGCCTCAAGGCTCCCAAGGCCTGAGTGGGCAGGTAGCACCCAGGTATAGACCTTCCACGTGCAGCACCCAGGACACAGCCAGCATGAACTGGGCATTTCTGCAGGGCCTGCTGAGTGGCGTGAACAAGTACTCCACAGTGCTGAGCCGCATCTGGCTGTCTGTGGTGTTCATCTTTCGTGTGCTGGTGTACGTGGTGGCAGCGGAGGAGGTGTGGGACGATGAGCAGAAGGACTTTGTCTGCAACACCAAGCAGCCCGGCTGCCCCAACGTCTGCTATGACGAGTTCTTCCCCGTGTCCCACGTGCGCCTCTGGGCCCTACAGCTCATCCTGGTCCCGTGCCCCTCACTGCTCGTGGTCATGCACGTGGCCTACCGCGAGGAACGCGAGCGCAAGCACCACCTGAAACACGGGCCCAATGCCCCGTCCCTGTACGACAACCTGAGCAAGAAGCGGGGCGGACTGTGGTGGACGTACTTGCTGAGCCTCATCTTCAAGGCCGCCGTGGATGCTGGCTTCCTCTATATCTTCCACCGCCTCTACAAGGATTATGACATGCCCCGCGTGGTGGCCTGCTCCGTGGAGCCTTGCCCCCACACTGTGGACTGTTACATCTCCCGGCCCACGGAGAAGAAGGTCTTCACCTACTTCATGGTGACCACAGCTGCCATCTGCATCCTGCTCAACCTCAGTGAAGTCTTCTACCTGGTGGGCAAGAGGTGCATGGAGATCTTCGGCCCCAGGCACCGGCGGCCTCGGTGCCGGGAATGCCTACCCGATACGTGCCCACCATATGTCCTCTCCCAGGGAGGGCACCCTGAGGATGGGAACTCTGTCCTAATGAAGGCTGGGTCGGCCCCAGTGGATGCAGGTGGGTATCCATAACCTGCGAGATCAGCAGATAAGATCAACAGGTCCCCCCCACATGAGGCCACCCAGGAAAAAAGGCAGGGGCAGTGGCATCCTTGCCGTAGCAGGGTGGTGAGGAGGGTGGCTGTGGGGGCTCAGGAAGCTCGCCCAGGGGCCAATGTGGGAGGTTGGGGGTAGTTTGGTCCCTGGGTCCTGAGCCTCAGGGGAGGGAGGTTGATAGCTACTGGGGATTTTGTATATGGCAACAGTATATGTCAAACCTCTTAATAAATATGATTTTCCCAGTACTTTGCAGACCAGGTGGGGAGTGGCCGATAGGAAAACGGGGGGCAGGGGGGATTAGGTGGACCTCAGAGAGGATGCCAAGACTACTCAGTGAGCACCTGAGCACTGGAACCTCAGATCCAGGCTCACCCATCACCCCCCAACACACACAGTGTGTGCCCCCAGAACATGATGGGCTGTGCCCAAAGGCAGAGGCTACTCCAGGGGCCTCTGGGTTGTGCAACCACCTGGCCAAAGCAGGAGGAGAGGAATTCCAGGAGACCCTGTGCCCAGCAGGAGTCAGTTCTCAGTGATCGTCCATCACAGGAATGAGCGTGGGTTGGGCCTCCCTAGCCCTGCCCAGCACAGGTCCCGGATAGGTGAGTCCCCTCTGACGGTGGGAGGGTCACGGCTGAGAGCAAGCCAGGGATGGGAATCTGTCAAGGTGCCCAAGAGGCACATCCTACAGGCCAGGGCCCACTGAGAGTGTCTGAGCTGAAAGGTCCCTTGTGGATCCTGGAGTCTATGGAATTTCATGTTCTTTTTCACTGATACAACTTCCCCATCCCATACTCCCCCACCCCACCACCACTCAGACTTTGGCAACTCCCAGAACCACACCTCCACCCTAACATGCCTCTGAGTCCCACCAAATGCCCACTAGACAATTCCCTGGGAGGCCCCCAGGCATCTCATACCCGCCACTCCCAAGCTGACCTCATCAGCTCACCCAGACCTGCCCCCTTGAAGATGCCCCACCCCATCTCATGCAGGACACAGCTATTCACCCAGCTGCCCAAGCCAGGGGACGAGACAAGCCTGACATCCTTGTCCCTCACACCCCACACCCCCACTGGCACCAAATCCCACTGATTCCAGTCCCTAAATGCCACCTGAATCTGCTCTTCCTCTCCTTACAACAACCTAACTACCTCCTGGACCTCCCCCATCTGCCCTCCGCTACAGGGATGGAGTGATTTATCTGTCTATGCAACTGACCATGTCATTCCACCTGCTTTAAAATTTCTTCCACCATCACCAGCCCCATGCCCTCAGCATGGCCCCCGCTGACCTCCCCACCTCATCCCAGCTTCCTCCCCTTTTCTACCTGCAAGTAATACCAAAGGGCTCCTGGTTCCCCAGGCAGACACGTCATGTGGTGTCATTCCTCGTGCCTTTGTCATGCTATTTCCTCTGGCTAGAATGCCCTTCCCACCCCCTCTGTGATCCTCCCTCGAACCTCTAGGACA
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Task1_train_649
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A variant was discovered in gene GJB4 (gap junction protein beta 4), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not provided
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TATGTGCCCGGGGAAGTCCGCCCTCCTGCCTGCCCACCCAATCACTCTCGCTTGGCTCATTGGCCCAGAAAGCCCCACCCAGCAAGGGAGAGAGGAACAAAAGCTGCCTCCGGGAGGTCCTGAGGCAAACAGACAAGCCCAAGGACAAGGAAGCAGCTACTGGACCCAAGAAGGGTGAGGACCGAATAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACCTCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCCCAGGGAAGTGCCAAGGAGGAGAAGGAATGTCCTGGCTGACCTAAGGGACGACAGAAGATTGGGGAAGAGGGGGTATCAGGAAGAAATGGGTTTCAGTTCAGTTTAACAAACATCTATTGTGTGTTCACTGGGCCAGGCCAGTGCTAGGTGCTAGGGAGACAGAGGTGAAGAGCCTGCCCTCTAGCAGCTGACAGCCTGGCAAAAAAATAAGACAGGTAAATAGACCATTTGGGTACAGGCGATGCCTCTTGCTCTGAAAGTGTCCCAGGCACACGATGTCTGAAGAGGCTGAGAGCAGAGTCAGGGATTGGGGATGGGGAAGGAGGAGGGTAGGAGGAGGGGAGGGTTGGACATGGGGCCTGATGGGGACTCCAGACAAGGGGGTGTGGAGGTCAGAGTCCACAGGAGAGGGGCCTGAGAGGAAATAATGGAAATGCGGCTAGCAAACAGCCACTAAATGGACAGAGGAGGGGGTGCCCCCAGAGAAAGTAAATGGGGGGTCCAGACCATGCCAGAATCCATCCTCAGTCCTTCCTAAAGCTGGAATGGTTGGAATTCCAGAGGAACCCACTGTGGTCAAGACAGTCAGCCCTCAGGCCCCAGCACCAGTACACGGGTTGGCAGGGATGATATCAAGTCCCCGTGATTCCAAAGCACCTCTGTTTAGTTTGGGAGGGAATGCCAGGGCTGAGAACCTTCCTGGAGCCAGAGGCAAGGAGTAAGGATGCAGATTGTTCTGGGATTTACCAAGGGGCTGATGTGAACGTCCCCAACACGGGGCCAGGCTCTTGTTGGTGTTCAGTAAAAGTGGGATGGATCTGACAACTGATAAGGATACGTTCCCACCCCTCCTGCCCTGGCCCAGCCCTGGCAGCTGATGGGAGAGCAGATCGTCCAATTCAAGCCTTCCTACGGTCTCTTTAGAAGACATGGGCTGAAACTTGGGGTAATAGAGGTTGGCTGGCATATCCATGCAGGATGATTGTCTTCACATGTATCTATTACCTTGTAGAATAAGGTAGACCCTGATTTTGGAACCTGAAGACCAAAGTGCAAGATTAGCTCTGCTACTTCCATCTGTGGACCATTGGGCAGGTATCTCTGGGCCTTCACTTACTCTTTGTGAAATGAGGACAGGGGCAATCCCTACCCTACCAAGTCATTGGGAGTGAAGACATGATGACACGGTGATTGTGAAAAGATTTTGTCAATCGCACCAGCATTAAGGGTGCCCATCTCCAGGTTCCCCCAGGCCTCAAGGCTCCCAAGGCCTGAGTGGGCAGGTAGCACCCAGGTATAGACCTTCCACGTGCAGCACCCAGGACACAGCCAGCATGAACTGGGCATTTCTGCAGGGCCTGCTGAGTGGCGTGAACAAGTACTCCACAGTGCTGAGCCGCATCTGGCTGTCTGTGGTGTTCATCTTTCGTGTGCTGGTGTACGTGGTGGCAGCGGAGGAGGTGTGGGACGATGAGCAGAAGGACTTTGTCTGCAACACCAAGCAGCCCGGCTGCCCCAACGTCTGCTATGACGAGTTCTTCCCCGTGTCCCACGTGCGCCTCTGGGCCCTACAGCTCATCCTGGTCACGTGCCCCTCACTGCTCGTGGTCATGCACGTGGCCTACCGCGAGGAACGCGAGCGCAAGCACCACCTGAAACACGGGCCCAATGCCCCGTCCCTGTACGACAACCTGAGCAAGAAGCGGGGCGGACTGTGGTGGACGTACTTGCTGAGCCTCATCTTCAAGGCCGCCGTGGATGCTGGCTTCCTCTATATCTTCCACCGCCTCTACAAGGATTATGACATGCCCCGCGTGGTGGCCTGCTCCGTGGAGCCTTGCCCCCACACTGTGGACTGTTACATCTCCCGGCCCACGGAGAAGAAGGTCTTCACCTACTTCATGGTGACCACAGCTGCCATCTGCATCCTGCTCAACCTCAGTGAAGTCTTCTACCTGGTGGGCAAGAGGTGCATGGAGATCTTCGGCCCCAGGCACCGGCGGCCTCGGTGCCGGGAATGCCTACCCGATACGTGCCCACCATATGTCCTCTCCCAGGGAGGGCACCCTGAGGATGGGAACTCTGTCCTAATGAAGGCTGGGTCGGCCCCAGTGGATGCAGGTGGGTATCCATAACCTGCGAGATCAGCAGATAAGATCAACAGGTCCCCCCCACATGAGGCCACCCAGGAAAAAAGGCAGGGGCAGTGGCATCCTTGCCGTAGCAGGGTGGTGAGGAGGGTGGCTGTGGGGGCTCAGGAAGCTCGCCCAGGGGCCAATGTGGGAGGTTGGGGGTAGTTTGGTCCCTGGGTCCTGAGCCTCAGGGGAGGGAGGTTGATAGCTACTGGGGATTTTGTATATGGCAACAGTATATGTCAAACCTCTTAATAAATATGATTTTCCCAGTACTTTGCAGACCAGGTGGGGAGTGGCCGATAGGAAAACGGGGGGCAGGGGGGATTAGGTGGACCTCAGAGAGGATGCCAAGACTACTCAGTGAGCACCTGAGCACTGGAACCTCAGATCCAGGCTCACCCATCACCCCCCAACACACACAGTGTGTGCCCCCAGAACATGATGGGCTGTGCCCAAAGGCAGAGGCTACTCCAGGGGCCTCTGGGTTGTGCAACCACCTGGCCAAAGCAGGAGGAGAGGAATTCCAGGAGACCCTGTGCCCAGCAGGAGTCAGTTCTCAGTGATCGTCCATCACAGGAATGAGCGTGGGTTGGGCCTCCCTAGCCCTGCCCAGCACAGGTCCCGGATAGGTGAGTCCCCTCTGACGGTGGGAGGGTCACGGCTGAGAGCAAGCCAGGGATGGGAATCTGTCAAGGTGCCCAAGAGGCACATCCTACAGGCCAGGGCCCACTGAGAGTGTCTGAGCTGAAAGGTCCCTTGTGGATCCTGGAGTCTATGGAATTTCATGTTCTTTTTCACTGATACAACTTCCCCATCCCATACTCCCCCACCCCACCACCACTCAGACTTTGGCAACTCCCAGAACCACACCTCCACCCTAACATGCCTCTGAGTCCCACCAAATGCCCACTAGACAATTCCCTGGGAGGCCCCCAGGCATCTCATACCCGCCACTCCCAAGCTGACCTCATCAGCTCACCCAGACCTGCCCCCTTGAAGATGCCCCACCCCATCTCATGCAGGACACAGCTATTCACCCAGCTGCCCAAGCCAGGGGACGAGACAAGCCTGACATCCTTGTCCCTCACACCCCACACCCCCACTGGCACCAAATCCCACTGATTCCAGTCCCTAAATGCCACCTGAATCTGCTCTTCCTCTCCTTACAACAACCTAACTACCTCCTGGACCTCCCCCATCTGCCCTCCGCTACAGGGATGGAGTGATTTATCTGTCTATGCAACTGACCATGTCATTCCACCTGCTTTAAAATTTCTTCCACCATCACCAGCCCCATGCCCTCAGCATGGCCCCCGCTGACCTCCCCACCTCATCCCAGCTTCCTCCCCTTTTCTACCTGCAAGTAATACCAAAGGGCTCCTGGTTCCCCAGGCAGACACGTCATGTGGTGTCATTCCTCGTGCCTTTGTCATGCTATTTCCTCTGGCTAGAATGCCCTTCCCACCCCCTCTGTGATCCTCCCTCGAACCTCTAGGACAGCTTTACCCATCTCTCTAAGTGCCAGCCTCGCTTGTCCCTCTGCCACTCTCCCCAAATCGGAATTGTCACTTCCCCTGAGTGTCTCCCTATCAGTCTGTGAGCCCTTAATGGGCAGGTCACTGAGTCATCCAGGTCCCTGCTGCCTTCAATAAATG
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TATGTGCCCGGGGAAGTCCGCCCTCCTGCCTGCCCACCCAATCACTCTCGCTTGGCTCATTGGCCCAGAAAGCCCCACCCAGCAAGGGAGAGAGGAACAAAAGCTGCCTCCGGGAGGTCCTGAGGCAAACAGACAAGCCCAAGGACAAGGAAGCAGCTACTGGACCCAAGAAGGGTGAGGACCGAATAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACCTCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCCCAGGGAAGTGCCAAGGAGGAGAAGGAATGTCCTGGCTGACCTAAGGGACGACAGAAGATTGGGGAAGAGGGGGTATCAGGAAGAAATGGGTTTCAGTTCAGTTTAACAAACATCTATTGTGTGTTCACTGGGCCAGGCCAGTGCTAGGTGCTAGGGAGACAGAGGTGAAGAGCCTGCCCTCTAGCAGCTGACAGCCTGGCAAAAAAATAAGACAGGTAAATAGACCATTTGGGTACAGGCGATGCCTCTTGCTCTGAAAGTGTCCCAGGCACACGATGTCTGAAGAGGCTGAGAGCAGAGTCAGGGATTGGGGATGGGGAAGGAGGAGGGTAGGAGGAGGGGAGGGTTGGACATGGGGCCTGATGGGGACTCCAGACAAGGGGGTGTGGAGGTCAGAGTCCACAGGAGAGGGGCCTGAGAGGAAATAATGGAAATGCGGCTAGCAAACAGCCACTAAATGGACAGAGGAGGGGGTGCCCCCAGAGAAAGTAAATGGGGGGTCCAGACCATGCCAGAATCCATCCTCAGTCCTTCCTAAAGCTGGAATGGTTGGAATTCCAGAGGAACCCACTGTGGTCAAGACAGTCAGCCCTCAGGCCCCAGCACCAGTACACGGGTTGGCAGGGATGATATCAAGTCCCCGTGATTCCAAAGCACCTCTGTTTAGTTTGGGAGGGAATGCCAGGGCTGAGAACCTTCCTGGAGCCAGAGGCAAGGAGTAAGGATGCAGATTGTTCTGGGATTTACCAAGGGGCTGATGTGAACGTCCCCAACACGGGGCCAGGCTCTTGTTGGTGTTCAGTAAAAGTGGGATGGATCTGACAACTGATAAGGATACGTTCCCACCCCTCCTGCCCTGGCCCAGCCCTGGCAGCTGATGGGAGAGCAGATCGTCCAATTCAAGCCTTCCTACGGTCTCTTTAGAAGACATGGGCTGAAACTTGGGGTAATAGAGGTTGGCTGGCATATCCATGCAGGATGATTGTCTTCACATGTATCTATTACCTTGTAGAATAAGGTAGACCCTGATTTTGGAACCTGAAGACCAAAGTGCAAGATTAGCTCTGCTACTTCCATCTGTGGACCATTGGGCAGGTATCTCTGGGCCTTCACTTACTCTTTGTGAAATGAGGACAGGGGCAATCCCTACCCTACCAAGTCATTGGGAGTGAAGACATGATGACACGGTGATTGTGAAAAGATTTTGTCAATCGCACCAGCATTAAGGGTGCCCATCTCCAGGTTCCCCCAGGCCTCAAGGCTCCCAAGGCCTGAGTGGGCAGGTAGCACCCAGGTATAGACCTTCCACGTGCAGCACCCAGGACACAGCCAGCATGAACTGGGCATTTCTGCAGGGCCTGCTGAGTGGCGTGAACAAGTACTCCACAGTGCTGAGCCGCATCTGGCTGTCTGTGGTGTTCATCTTTCGTGTGCTGGTGTACGTGGTGGCAGCGGAGGAGGTGTGGGACGATGAGCAGAAGGACTTTGTCTGCAACACCAAGCAGCCCGGCTGCCCCAACGTCTGCTATGACGAGTTCTTCCCCGTGTCCCACGTGCGCCTCTGGGCCCTACAGCTCATCCTGGTCACGTGCCCCTCACTGCTCGTGGTCATGCACGTGGCCTACCGCGAGGAACGCGAGCGCAAGCACCACCTGAAACACGGGCCCAATGCCCCGTCCCTGTACGACAACCTGAGCAAGAAGCGGGGCGGACTGTGGTGGACGTACTTGCTGAGCCTCATCCTCAAGGCCGCCGTGGATGCTGGCTTCCTCTATATCTTCCACCGCCTCTACAAGGATTATGACATGCCCCGCGTGGTGGCCTGCTCCGTGGAGCCTTGCCCCCACACTGTGGACTGTTACATCTCCCGGCCCACGGAGAAGAAGGTCTTCACCTACTTCATGGTGACCACAGCTGCCATCTGCATCCTGCTCAACCTCAGTGAAGTCTTCTACCTGGTGGGCAAGAGGTGCATGGAGATCTTCGGCCCCAGGCACCGGCGGCCTCGGTGCCGGGAATGCCTACCCGATACGTGCCCACCATATGTCCTCTCCCAGGGAGGGCACCCTGAGGATGGGAACTCTGTCCTAATGAAGGCTGGGTCGGCCCCAGTGGATGCAGGTGGGTATCCATAACCTGCGAGATCAGCAGATAAGATCAACAGGTCCCCCCCACATGAGGCCACCCAGGAAAAAAGGCAGGGGCAGTGGCATCCTTGCCGTAGCAGGGTGGTGAGGAGGGTGGCTGTGGGGGCTCAGGAAGCTCGCCCAGGGGCCAATGTGGGAGGTTGGGGGTAGTTTGGTCCCTGGGTCCTGAGCCTCAGGGGAGGGAGGTTGATAGCTACTGGGGATTTTGTATATGGCAACAGTATATGTCAAACCTCTTAATAAATATGATTTTCCCAGTACTTTGCAGACCAGGTGGGGAGTGGCCGATAGGAAAACGGGGGGCAGGGGGGATTAGGTGGACCTCAGAGAGGATGCCAAGACTACTCAGTGAGCACCTGAGCACTGGAACCTCAGATCCAGGCTCACCCATCACCCCCCAACACACACAGTGTGTGCCCCCAGAACATGATGGGCTGTGCCCAAAGGCAGAGGCTACTCCAGGGGCCTCTGGGTTGTGCAACCACCTGGCCAAAGCAGGAGGAGAGGAATTCCAGGAGACCCTGTGCCCAGCAGGAGTCAGTTCTCAGTGATCGTCCATCACAGGAATGAGCGTGGGTTGGGCCTCCCTAGCCCTGCCCAGCACAGGTCCCGGATAGGTGAGTCCCCTCTGACGGTGGGAGGGTCACGGCTGAGAGCAAGCCAGGGATGGGAATCTGTCAAGGTGCCCAAGAGGCACATCCTACAGGCCAGGGCCCACTGAGAGTGTCTGAGCTGAAAGGTCCCTTGTGGATCCTGGAGTCTATGGAATTTCATGTTCTTTTTCACTGATACAACTTCCCCATCCCATACTCCCCCACCCCACCACCACTCAGACTTTGGCAACTCCCAGAACCACACCTCCACCCTAACATGCCTCTGAGTCCCACCAAATGCCCACTAGACAATTCCCTGGGAGGCCCCCAGGCATCTCATACCCGCCACTCCCAAGCTGACCTCATCAGCTCACCCAGACCTGCCCCCTTGAAGATGCCCCACCCCATCTCATGCAGGACACAGCTATTCACCCAGCTGCCCAAGCCAGGGGACGAGACAAGCCTGACATCCTTGTCCCTCACACCCCACACCCCCACTGGCACCAAATCCCACTGATTCCAGTCCCTAAATGCCACCTGAATCTGCTCTTCCTCTCCTTACAACAACCTAACTACCTCCTGGACCTCCCCCATCTGCCCTCCGCTACAGGGATGGAGTGATTTATCTGTCTATGCAACTGACCATGTCATTCCACCTGCTTTAAAATTTCTTCCACCATCACCAGCCCCATGCCCTCAGCATGGCCCCCGCTGACCTCCCCACCTCATCCCAGCTTCCTCCCCTTTTCTACCTGCAAGTAATACCAAAGGGCTCCTGGTTCCCCAGGCAGACACGTCATGTGGTGTCATTCCTCGTGCCTTTGTCATGCTATTTCCTCTGGCTAGAATGCCCTTCCCACCCCCTCTGTGATCCTCCCTCGAACCTCTAGGACAGCTTTACCCATCTCTCTAAGTGCCAGCCTCGCTTGTCCCTCTGCCACTCTCCCCAAATCGGAATTGTCACTTCCCCTGAGTGTCTCCCTATCAGTCTGTGAGCCCTTAATGGGCAGGTCACTGAGTCATCCAGGTCCCTGCTGCCTTCAATAAATG
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Task1_train_650
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This variant affects gene GJB4 (gap junction protein beta 4) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Erythrokeratodermia variabilis et progressiva 2
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TGTGCCCGGGGAAGTCCGCCCTCCTGCCTGCCCACCCAATCACTCTCGCTTGGCTCATTGGCCCAGAAAGCCCCACCCAGCAAGGGAGAGAGGAACAAAAGCTGCCTCCGGGAGGTCCTGAGGCAAACAGACAAGCCCAAGGACAAGGAAGCAGCTACTGGACCCAAGAAGGGTGAGGACCGAATAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACCTCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCCCAGGGAAGTGCCAAGGAGGAGAAGGAATGTCCTGGCTGACCTAAGGGACGACAGAAGATTGGGGAAGAGGGGGTATCAGGAAGAAATGGGTTTCAGTTCAGTTTAACAAACATCTATTGTGTGTTCACTGGGCCAGGCCAGTGCTAGGTGCTAGGGAGACAGAGGTGAAGAGCCTGCCCTCTAGCAGCTGACAGCCTGGCAAAAAAATAAGACAGGTAAATAGACCATTTGGGTACAGGCGATGCCTCTTGCTCTGAAAGTGTCCCAGGCACACGATGTCTGAAGAGGCTGAGAGCAGAGTCAGGGATTGGGGATGGGGAAGGAGGAGGGTAGGAGGAGGGGAGGGTTGGACATGGGGCCTGATGGGGACTCCAGACAAGGGGGTGTGGAGGTCAGAGTCCACAGGAGAGGGGCCTGAGAGGAAATAATGGAAATGCGGCTAGCAAACAGCCACTAAATGGACAGAGGAGGGGGTGCCCCCAGAGAAAGTAAATGGGGGGTCCAGACCATGCCAGAATCCATCCTCAGTCCTTCCTAAAGCTGGAATGGTTGGAATTCCAGAGGAACCCACTGTGGTCAAGACAGTCAGCCCTCAGGCCCCAGCACCAGTACACGGGTTGGCAGGGATGATATCAAGTCCCCGTGATTCCAAAGCACCTCTGTTTAGTTTGGGAGGGAATGCCAGGGCTGAGAACCTTCCTGGAGCCAGAGGCAAGGAGTAAGGATGCAGATTGTTCTGGGATTTACCAAGGGGCTGATGTGAACGTCCCCAACACGGGGCCAGGCTCTTGTTGGTGTTCAGTAAAAGTGGGATGGATCTGACAACTGATAAGGATACGTTCCCACCCCTCCTGCCCTGGCCCAGCCCTGGCAGCTGATGGGAGAGCAGATCGTCCAATTCAAGCCTTCCTACGGTCTCTTTAGAAGACATGGGCTGAAACTTGGGGTAATAGAGGTTGGCTGGCATATCCATGCAGGATGATTGTCTTCACATGTATCTATTACCTTGTAGAATAAGGTAGACCCTGATTTTGGAACCTGAAGACCAAAGTGCAAGATTAGCTCTGCTACTTCCATCTGTGGACCATTGGGCAGGTATCTCTGGGCCTTCACTTACTCTTTGTGAAATGAGGACAGGGGCAATCCCTACCCTACCAAGTCATTGGGAGTGAAGACATGATGACACGGTGATTGTGAAAAGATTTTGTCAATCGCACCAGCATTAAGGGTGCCCATCTCCAGGTTCCCCCAGGCCTCAAGGCTCCCAAGGCCTGAGTGGGCAGGTAGCACCCAGGTATAGACCTTCCACGTGCAGCACCCAGGACACAGCCAGCATGAACTGGGCATTTCTGCAGGGCCTGCTGAGTGGCGTGAACAAGTACTCCACAGTGCTGAGCCGCATCTGGCTGTCTGTGGTGTTCATCTTTCGTGTGCTGGTGTACGTGGTGGCAGCGGAGGAGGTGTGGGACGATGAGCAGAAGGACTTTGTCTGCAACACCAAGCAGCCCGGCTGCCCCAACGTCTGCTATGACGAGTTCTTCCCCGTGTCCCACGTGCGCCTCTGGGCCCTACAGCTCATCCTGGTCACGTGCCCCTCACTGCTCGTGGTCATGCACGTGGCCTACCGCGAGGAACGCGAGCGCAAGCACCACCTGAAACACGGGCCCAATGCCCCGTCCCTGTACGACAACCTGAGCAAGAAGCGGGGCGGACTGTGGTGGACGTACTTGCTGAGCCTCATCTTCAAGGCCGCCGTGGATGCTGGCTTCCTCTATATCTTCCACCGCCTCTACAAGGATTATGACATGCCCCGCGTGGTGGCCTGCTCCGTGGAGCCTTGCCCCCACACTGTGGACTGTTACATCTCCCGGCCCACGGAGAAGAAGGTCTTCACCTACTTCATGGTGACCACAGCTGCCATCTGCATCCTGCTCAACCTCAGTGAAGTCTTCTACCTGGTGGGCAAGAGGTGCATGGAGATCTTCGGCCCCAGGCACCGGCGGCCTCGGTGCCGGGAATGCCTACCCGATACGTGCCCACCATATGTCCTCTCCCAGGGAGGGCACCCTGAGGATGGGAACTCTGTCCTAATGAAGGCTGGGTCGGCCCCAGTGGATGCAGGTGGGTATCCATAACCTGCGAGATCAGCAGATAAGATCAACAGGTCCCCCCCACATGAGGCCACCCAGGAAAAAAGGCAGGGGCAGTGGCATCCTTGCCGTAGCAGGGTGGTGAGGAGGGTGGCTGTGGGGGCTCAGGAAGCTCGCCCAGGGGCCAATGTGGGAGGTTGGGGGTAGTTTGGTCCCTGGGTCCTGAGCCTCAGGGGAGGGAGGTTGATAGCTACTGGGGATTTTGTATATGGCAACAGTATATGTCAAACCTCTTAATAAATATGATTTTCCCAGTACTTTGCAGACCAGGTGGGGAGTGGCCGATAGGAAAACGGGGGGCAGGGGGGATTAGGTGGACCTCAGAGAGGATGCCAAGACTACTCAGTGAGCACCTGAGCACTGGAACCTCAGATCCAGGCTCACCCATCACCCCCCAACACACACAGTGTGTGCCCCCAGAACATGATGGGCTGTGCCCAAAGGCAGAGGCTACTCCAGGGGCCTCTGGGTTGTGCAACCACCTGGCCAAAGCAGGAGGAGAGGAATTCCAGGAGACCCTGTGCCCAGCAGGAGTCAGTTCTCAGTGATCGTCCATCACAGGAATGAGCGTGGGTTGGGCCTCCCTAGCCCTGCCCAGCACAGGTCCCGGATAGGTGAGTCCCCTCTGACGGTGGGAGGGTCACGGCTGAGAGCAAGCCAGGGATGGGAATCTGTCAAGGTGCCCAAGAGGCACATCCTACAGGCCAGGGCCCACTGAGAGTGTCTGAGCTGAAAGGTCCCTTGTGGATCCTGGAGTCTATGGAATTTCATGTTCTTTTTCACTGATACAACTTCCCCATCCCATACTCCCCCACCCCACCACCACTCAGACTTTGGCAACTCCCAGAACCACACCTCCACCCTAACATGCCTCTGAGTCCCACCAAATGCCCACTAGACAATTCCCTGGGAGGCCCCCAGGCATCTCATACCCGCCACTCCCAAGCTGACCTCATCAGCTCACCCAGACCTGCCCCCTTGAAGATGCCCCACCCCATCTCATGCAGGACACAGCTATTCACCCAGCTGCCCAAGCCAGGGGACGAGACAAGCCTGACATCCTTGTCCCTCACACCCCACACCCCCACTGGCACCAAATCCCACTGATTCCAGTCCCTAAATGCCACCTGAATCTGCTCTTCCTCTCCTTACAACAACCTAACTACCTCCTGGACCTCCCCCATCTGCCCTCCGCTACAGGGATGGAGTGATTTATCTGTCTATGCAACTGACCATGTCATTCCACCTGCTTTAAAATTTCTTCCACCATCACCAGCCCCATGCCCTCAGCATGGCCCCCGCTGACCTCCCCACCTCATCCCAGCTTCCTCCCCTTTTCTACCTGCAAGTAATACCAAAGGGCTCCTGGTTCCCCAGGCAGACACGTCATGTGGTGTCATTCCTCGTGCCTTTGTCATGCTATTTCCTCTGGCTAGAATGCCCTTCCCACCCCCTCTGTGATCCTCCCTCGAACCTCTAGGACAGCTTTACCCATCTCTCTAAGTGCCAGCCTCGCTTGTCCCTCTGCCACTCTCCCCAAATCGGAATTGTCACTTCCCCTGAGTGTCTCCCTATCAGTCTGTGAGCCCTTAATGGGCAGGTCACTGAGTCATCCAGGTCCCTGCTGCCTTCAATAAATGCT
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TGTGCCCGGGGAAGTCCGCCCTCCTGCCTGCCCACCCAATCACTCTCGCTTGGCTCATTGGCCCAGAAAGCCCCACCCAGCAAGGGAGAGAGGAACAAAAGCTGCCTCCGGGAGGTCCTGAGGCAAACAGACAAGCCCAAGGACAAGGAAGCAGCTACTGGACCCAAGAAGGGTGAGGACCGAATAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACCTCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCCCAGGGAAGTGCCAAGGAGGAGAAGGAATGTCCTGGCTGACCTAAGGGACGACAGAAGATTGGGGAAGAGGGGGTATCAGGAAGAAATGGGTTTCAGTTCAGTTTAACAAACATCTATTGTGTGTTCACTGGGCCAGGCCAGTGCTAGGTGCTAGGGAGACAGAGGTGAAGAGCCTGCCCTCTAGCAGCTGACAGCCTGGCAAAAAAATAAGACAGGTAAATAGACCATTTGGGTACAGGCGATGCCTCTTGCTCTGAAAGTGTCCCAGGCACACGATGTCTGAAGAGGCTGAGAGCAGAGTCAGGGATTGGGGATGGGGAAGGAGGAGGGTAGGAGGAGGGGAGGGTTGGACATGGGGCCTGATGGGGACTCCAGACAAGGGGGTGTGGAGGTCAGAGTCCACAGGAGAGGGGCCTGAGAGGAAATAATGGAAATGCGGCTAGCAAACAGCCACTAAATGGACAGAGGAGGGGGTGCCCCCAGAGAAAGTAAATGGGGGGTCCAGACCATGCCAGAATCCATCCTCAGTCCTTCCTAAAGCTGGAATGGTTGGAATTCCAGAGGAACCCACTGTGGTCAAGACAGTCAGCCCTCAGGCCCCAGCACCAGTACACGGGTTGGCAGGGATGATATCAAGTCCCCGTGATTCCAAAGCACCTCTGTTTAGTTTGGGAGGGAATGCCAGGGCTGAGAACCTTCCTGGAGCCAGAGGCAAGGAGTAAGGATGCAGATTGTTCTGGGATTTACCAAGGGGCTGATGTGAACGTCCCCAACACGGGGCCAGGCTCTTGTTGGTGTTCAGTAAAAGTGGGATGGATCTGACAACTGATAAGGATACGTTCCCACCCCTCCTGCCCTGGCCCAGCCCTGGCAGCTGATGGGAGAGCAGATCGTCCAATTCAAGCCTTCCTACGGTCTCTTTAGAAGACATGGGCTGAAACTTGGGGTAATAGAGGTTGGCTGGCATATCCATGCAGGATGATTGTCTTCACATGTATCTATTACCTTGTAGAATAAGGTAGACCCTGATTTTGGAACCTGAAGACCAAAGTGCAAGATTAGCTCTGCTACTTCCATCTGTGGACCATTGGGCAGGTATCTCTGGGCCTTCACTTACTCTTTGTGAAATGAGGACAGGGGCAATCCCTACCCTACCAAGTCATTGGGAGTGAAGACATGATGACACGGTGATTGTGAAAAGATTTTGTCAATCGCACCAGCATTAAGGGTGCCCATCTCCAGGTTCCCCCAGGCCTCAAGGCTCCCAAGGCCTGAGTGGGCAGGTAGCACCCAGGTATAGACCTTCCACGTGCAGCACCCAGGACACAGCCAGCATGAACTGGGCATTTCTGCAGGGCCTGCTGAGTGGCGTGAACAAGTACTCCACAGTGCTGAGCCGCATCTGGCTGTCTGTGGTGTTCATCTTTCGTGTGCTGGTGTACGTGGTGGCAGCGGAGGAGGTGTGGGACGATGAGCAGAAGGACTTTGTCTGCAACACCAAGCAGCCCGGCTGCCCCAACGTCTGCTATGACGAGTTCTTCCCCGTGTCCCACGTGCGCCTCTGGGCCCTACAGCTCATCCTGGTCACGTGCCCCTCACTGCTCGTGGTCATGCACGTGGCCTACCGCGAGGAACGCGAGCGCAAGCACCACCTGAAACACGGGCCCAATGCCCCGTCCCTGTACGACAACCTGAGCAAGAAGCGGGGCGGACTGTGGTGGACGTACTTGCTGAGCCTCATCTTAAAGGCCGCCGTGGATGCTGGCTTCCTCTATATCTTCCACCGCCTCTACAAGGATTATGACATGCCCCGCGTGGTGGCCTGCTCCGTGGAGCCTTGCCCCCACACTGTGGACTGTTACATCTCCCGGCCCACGGAGAAGAAGGTCTTCACCTACTTCATGGTGACCACAGCTGCCATCTGCATCCTGCTCAACCTCAGTGAAGTCTTCTACCTGGTGGGCAAGAGGTGCATGGAGATCTTCGGCCCCAGGCACCGGCGGCCTCGGTGCCGGGAATGCCTACCCGATACGTGCCCACCATATGTCCTCTCCCAGGGAGGGCACCCTGAGGATGGGAACTCTGTCCTAATGAAGGCTGGGTCGGCCCCAGTGGATGCAGGTGGGTATCCATAACCTGCGAGATCAGCAGATAAGATCAACAGGTCCCCCCCACATGAGGCCACCCAGGAAAAAAGGCAGGGGCAGTGGCATCCTTGCCGTAGCAGGGTGGTGAGGAGGGTGGCTGTGGGGGCTCAGGAAGCTCGCCCAGGGGCCAATGTGGGAGGTTGGGGGTAGTTTGGTCCCTGGGTCCTGAGCCTCAGGGGAGGGAGGTTGATAGCTACTGGGGATTTTGTATATGGCAACAGTATATGTCAAACCTCTTAATAAATATGATTTTCCCAGTACTTTGCAGACCAGGTGGGGAGTGGCCGATAGGAAAACGGGGGGCAGGGGGGATTAGGTGGACCTCAGAGAGGATGCCAAGACTACTCAGTGAGCACCTGAGCACTGGAACCTCAGATCCAGGCTCACCCATCACCCCCCAACACACACAGTGTGTGCCCCCAGAACATGATGGGCTGTGCCCAAAGGCAGAGGCTACTCCAGGGGCCTCTGGGTTGTGCAACCACCTGGCCAAAGCAGGAGGAGAGGAATTCCAGGAGACCCTGTGCCCAGCAGGAGTCAGTTCTCAGTGATCGTCCATCACAGGAATGAGCGTGGGTTGGGCCTCCCTAGCCCTGCCCAGCACAGGTCCCGGATAGGTGAGTCCCCTCTGACGGTGGGAGGGTCACGGCTGAGAGCAAGCCAGGGATGGGAATCTGTCAAGGTGCCCAAGAGGCACATCCTACAGGCCAGGGCCCACTGAGAGTGTCTGAGCTGAAAGGTCCCTTGTGGATCCTGGAGTCTATGGAATTTCATGTTCTTTTTCACTGATACAACTTCCCCATCCCATACTCCCCCACCCCACCACCACTCAGACTTTGGCAACTCCCAGAACCACACCTCCACCCTAACATGCCTCTGAGTCCCACCAAATGCCCACTAGACAATTCCCTGGGAGGCCCCCAGGCATCTCATACCCGCCACTCCCAAGCTGACCTCATCAGCTCACCCAGACCTGCCCCCTTGAAGATGCCCCACCCCATCTCATGCAGGACACAGCTATTCACCCAGCTGCCCAAGCCAGGGGACGAGACAAGCCTGACATCCTTGTCCCTCACACCCCACACCCCCACTGGCACCAAATCCCACTGATTCCAGTCCCTAAATGCCACCTGAATCTGCTCTTCCTCTCCTTACAACAACCTAACTACCTCCTGGACCTCCCCCATCTGCCCTCCGCTACAGGGATGGAGTGATTTATCTGTCTATGCAACTGACCATGTCATTCCACCTGCTTTAAAATTTCTTCCACCATCACCAGCCCCATGCCCTCAGCATGGCCCCCGCTGACCTCCCCACCTCATCCCAGCTTCCTCCCCTTTTCTACCTGCAAGTAATACCAAAGGGCTCCTGGTTCCCCAGGCAGACACGTCATGTGGTGTCATTCCTCGTGCCTTTGTCATGCTATTTCCTCTGGCTAGAATGCCCTTCCCACCCCCTCTGTGATCCTCCCTCGAACCTCTAGGACAGCTTTACCCATCTCTCTAAGTGCCAGCCTCGCTTGTCCCTCTGCCACTCTCCCCAAATCGGAATTGTCACTTCCCCTGAGTGTCTCCCTATCAGTCTGTGAGCCCTTAATGGGCAGGTCACTGAGTCATCCAGGTCCCTGCTGCCTTCAATAAATGCT
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Task1_train_651
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This variant affects the gene GJB4 (gap junction protein beta 4) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Erythrokeratodermia variabilis et progressiva 2
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TACTGGACCCAAGAAGGGTGAGGACCGAATAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACCTCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCCCAGGGAAGTGCCAAGGAGGAGAAGGAATGTCCTGGCTGACCTAAGGGACGACAGAAGATTGGGGAAGAGGGGGTATCAGGAAGAAATGGGTTTCAGTTCAGTTTAACAAACATCTATTGTGTGTTCACTGGGCCAGGCCAGTGCTAGGTGCTAGGGAGACAGAGGTGAAGAGCCTGCCCTCTAGCAGCTGACAGCCTGGCAAAAAAATAAGACAGGTAAATAGACCATTTGGGTACAGGCGATGCCTCTTGCTCTGAAAGTGTCCCAGGCACACGATGTCTGAAGAGGCTGAGAGCAGAGTCAGGGATTGGGGATGGGGAAGGAGGAGGGTAGGAGGAGGGGAGGGTTGGACATGGGGCCTGATGGGGACTCCAGACAAGGGGGTGTGGAGGTCAGAGTCCACAGGAGAGGGGCCTGAGAGGAAATAATGGAAATGCGGCTAGCAAACAGCCACTAAATGGACAGAGGAGGGGGTGCCCCCAGAGAAAGTAAATGGGGGGTCCAGACCATGCCAGAATCCATCCTCAGTCCTTCCTAAAGCTGGAATGGTTGGAATTCCAGAGGAACCCACTGTGGTCAAGACAGTCAGCCCTCAGGCCCCAGCACCAGTACACGGGTTGGCAGGGATGATATCAAGTCCCCGTGATTCCAAAGCACCTCTGTTTAGTTTGGGAGGGAATGCCAGGGCTGAGAACCTTCCTGGAGCCAGAGGCAAGGAGTAAGGATGCAGATTGTTCTGGGATTTACCAAGGGGCTGATGTGAACGTCCCCAACACGGGGCCAGGCTCTTGTTGGTGTTCAGTAAAAGTGGGATGGATCTGACAACTGATAAGGATACGTTCCCACCCCTCCTGCCCTGGCCCAGCCCTGGCAGCTGATGGGAGAGCAGATCGTCCAATTCAAGCCTTCCTACGGTCTCTTTAGAAGACATGGGCTGAAACTTGGGGTAATAGAGGTTGGCTGGCATATCCATGCAGGATGATTGTCTTCACATGTATCTATTACCTTGTAGAATAAGGTAGACCCTGATTTTGGAACCTGAAGACCAAAGTGCAAGATTAGCTCTGCTACTTCCATCTGTGGACCATTGGGCAGGTATCTCTGGGCCTTCACTTACTCTTTGTGAAATGAGGACAGGGGCAATCCCTACCCTACCAAGTCATTGGGAGTGAAGACATGATGACACGGTGATTGTGAAAAGATTTTGTCAATCGCACCAGCATTAAGGGTGCCCATCTCCAGGTTCCCCCAGGCCTCAAGGCTCCCAAGGCCTGAGTGGGCAGGTAGCACCCAGGTATAGACCTTCCACGTGCAGCACCCAGGACACAGCCAGCATGAACTGGGCATTTCTGCAGGGCCTGCTGAGTGGCGTGAACAAGTACTCCACAGTGCTGAGCCGCATCTGGCTGTCTGTGGTGTTCATCTTTCGTGTGCTGGTGTACGTGGTGGCAGCGGAGGAGGTGTGGGACGATGAGCAGAAGGACTTTGTCTGCAACACCAAGCAGCCCGGCTGCCCCAACGTCTGCTATGACGAGTTCTTCCCCGTGTCCCACGTGCGCCTCTGGGCCCTACAGCTCATCCTGGTCACGTGCCCCTCACTGCTCGTGGTCATGCACGTGGCCTACCGCGAGGAACGCGAGCGCAAGCACCACCTGAAACACGGGCCCAATGCCCCGTCCCTGTACGACAACCTGAGCAAGAAGCGGGGCGGACTGTGGTGGACGTACTTGCTGAGCCTCATCTTCAAGGCCGCCGTGGATGCTGGCTTCCTCTATATCTTCCACCGCCTCTACAAGGATTATGACATGCCCCGCGTGGTGGCCTGCTCCGTGGAGCCTTGCCCCCACACTGTGGACTGTTACATCTCCCGGCCCACGGAGAAGAAGGTCTTCACCTACTTCATGGTGACCACAGCTGCCATCTGCATCCTGCTCAACCTCAGTGAAGTCTTCTACCTGGTGGGCAAGAGGTGCATGGAGATCTTCGGCCCCAGGCACCGGCGGCCTCGGTGCCGGGAATGCCTACCCGATACGTGCCCACCATATGTCCTCTCCCAGGGAGGGCACCCTGAGGATGGGAACTCTGTCCTAATGAAGGCTGGGTCGGCCCCAGTGGATGCAGGTGGGTATCCATAACCTGCGAGATCAGCAGATAAGATCAACAGGTCCCCCCCACATGAGGCCACCCAGGAAAAAAGGCAGGGGCAGTGGCATCCTTGCCGTAGCAGGGTGGTGAGGAGGGTGGCTGTGGGGGCTCAGGAAGCTCGCCCAGGGGCCAATGTGGGAGGTTGGGGGTAGTTTGGTCCCTGGGTCCTGAGCCTCAGGGGAGGGAGGTTGATAGCTACTGGGGATTTTGTATATGGCAACAGTATATGTCAAACCTCTTAATAAATATGATTTTCCCAGTACTTTGCAGACCAGGTGGGGAGTGGCCGATAGGAAAACGGGGGGCAGGGGGGATTAGGTGGACCTCAGAGAGGATGCCAAGACTACTCAGTGAGCACCTGAGCACTGGAACCTCAGATCCAGGCTCACCCATCACCCCCCAACACACACAGTGTGTGCCCCCAGAACATGATGGGCTGTGCCCAAAGGCAGAGGCTACTCCAGGGGCCTCTGGGTTGTGCAACCACCTGGCCAAAGCAGGAGGAGAGGAATTCCAGGAGACCCTGTGCCCAGCAGGAGTCAGTTCTCAGTGATCGTCCATCACAGGAATGAGCGTGGGTTGGGCCTCCCTAGCCCTGCCCAGCACAGGTCCCGGATAGGTGAGTCCCCTCTGACGGTGGGAGGGTCACGGCTGAGAGCAAGCCAGGGATGGGAATCTGTCAAGGTGCCCAAGAGGCACATCCTACAGGCCAGGGCCCACTGAGAGTGTCTGAGCTGAAAGGTCCCTTGTGGATCCTGGAGTCTATGGAATTTCATGTTCTTTTTCACTGATACAACTTCCCCATCCCATACTCCCCCACCCCACCACCACTCAGACTTTGGCAACTCCCAGAACCACACCTCCACCCTAACATGCCTCTGAGTCCCACCAAATGCCCACTAGACAATTCCCTGGGAGGCCCCCAGGCATCTCATACCCGCCACTCCCAAGCTGACCTCATCAGCTCACCCAGACCTGCCCCCTTGAAGATGCCCCACCCCATCTCATGCAGGACACAGCTATTCACCCAGCTGCCCAAGCCAGGGGACGAGACAAGCCTGACATCCTTGTCCCTCACACCCCACACCCCCACTGGCACCAAATCCCACTGATTCCAGTCCCTAAATGCCACCTGAATCTGCTCTTCCTCTCCTTACAACAACCTAACTACCTCCTGGACCTCCCCCATCTGCCCTCCGCTACAGGGATGGAGTGATTTATCTGTCTATGCAACTGACCATGTCATTCCACCTGCTTTAAAATTTCTTCCACCATCACCAGCCCCATGCCCTCAGCATGGCCCCCGCTGACCTCCCCACCTCATCCCAGCTTCCTCCCCTTTTCTACCTGCAAGTAATACCAAAGGGCTCCTGGTTCCCCAGGCAGACACGTCATGTGGTGTCATTCCTCGTGCCTTTGTCATGCTATTTCCTCTGGCTAGAATGCCCTTCCCACCCCCTCTGTGATCCTCCCTCGAACCTCTAGGACAGCTTTACCCATCTCTCTAAGTGCCAGCCTCGCTTGTCCCTCTGCCACTCTCCCCAAATCGGAATTGTCACTTCCCCTGAGTGTCTCCCTATCAGTCTGTGAGCCCTTAATGGGCAGGTCACTGAGTCATCCAGGTCCCTGCTGCCTTCAATAAATGCTTGTTAGATGAGTAAATAGTCTGCTTGGGGGAAGGAACTGAGTCTTGTTCATCGGAATCTTCCACCACACCTAGCCTGCGGACTTCAGCAAAGCATTTGTTTGCTTGCTTTGTTTTGTTTTTGTTGTTTCAACTAGAGCCAGCATCAAGGTCTCAC
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TACTGGACCCAAGAAGGGTGAGGACCGAATAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACCTCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCCCAGGGAAGTGCCAAGGAGGAGAAGGAATGTCCTGGCTGACCTAAGGGACGACAGAAGATTGGGGAAGAGGGGGTATCAGGAAGAAATGGGTTTCAGTTCAGTTTAACAAACATCTATTGTGTGTTCACTGGGCCAGGCCAGTGCTAGGTGCTAGGGAGACAGAGGTGAAGAGCCTGCCCTCTAGCAGCTGACAGCCTGGCAAAAAAATAAGACAGGTAAATAGACCATTTGGGTACAGGCGATGCCTCTTGCTCTGAAAGTGTCCCAGGCACACGATGTCTGAAGAGGCTGAGAGCAGAGTCAGGGATTGGGGATGGGGAAGGAGGAGGGTAGGAGGAGGGGAGGGTTGGACATGGGGCCTGATGGGGACTCCAGACAAGGGGGTGTGGAGGTCAGAGTCCACAGGAGAGGGGCCTGAGAGGAAATAATGGAAATGCGGCTAGCAAACAGCCACTAAATGGACAGAGGAGGGGGTGCCCCCAGAGAAAGTAAATGGGGGGTCCAGACCATGCCAGAATCCATCCTCAGTCCTTCCTAAAGCTGGAATGGTTGGAATTCCAGAGGAACCCACTGTGGTCAAGACAGTCAGCCCTCAGGCCCCAGCACCAGTACACGGGTTGGCAGGGATGATATCAAGTCCCCGTGATTCCAAAGCACCTCTGTTTAGTTTGGGAGGGAATGCCAGGGCTGAGAACCTTCCTGGAGCCAGAGGCAAGGAGTAAGGATGCAGATTGTTCTGGGATTTACCAAGGGGCTGATGTGAACGTCCCCAACACGGGGCCAGGCTCTTGTTGGTGTTCAGTAAAAGTGGGATGGATCTGACAACTGATAAGGATACGTTCCCACCCCTCCTGCCCTGGCCCAGCCCTGGCAGCTGATGGGAGAGCAGATCGTCCAATTCAAGCCTTCCTACGGTCTCTTTAGAAGACATGGGCTGAAACTTGGGGTAATAGAGGTTGGCTGGCATATCCATGCAGGATGATTGTCTTCACATGTATCTATTACCTTGTAGAATAAGGTAGACCCTGATTTTGGAACCTGAAGACCAAAGTGCAAGATTAGCTCTGCTACTTCCATCTGTGGACCATTGGGCAGGTATCTCTGGGCCTTCACTTACTCTTTGTGAAATGAGGACAGGGGCAATCCCTACCCTACCAAGTCATTGGGAGTGAAGACATGATGACACGGTGATTGTGAAAAGATTTTGTCAATCGCACCAGCATTAAGGGTGCCCATCTCCAGGTTCCCCCAGGCCTCAAGGCTCCCAAGGCCTGAGTGGGCAGGTAGCACCCAGGTATAGACCTTCCACGTGCAGCACCCAGGACACAGCCAGCATGAACTGGGCATTTCTGCAGGGCCTGCTGAGTGGCGTGAACAAGTACTCCACAGTGCTGAGCCGCATCTGGCTGTCTGTGGTGTTCATCTTTCGTGTGCTGGTGTACGTGGTGGCAGCGGAGGAGGTGTGGGACGATGAGCAGAAGGACTTTGTCTGCAACACCAAGCAGCCCGGCTGCCCCAACGTCTGCTATGACGAGTTCTTCCCCGTGTCCCACGTGCGCCTCTGGGCCCTACAGCTCATCCTGGTCACGTGCCCCTCACTGCTCGTGGTCATGCACGTGGCCTACCGCGAGGAACGCGAGCGCAAGCACCACCTGAAACACGGGCCCAATGCCCCGTCCCTGTACGACAACCTGAGCAAGAAGCGGGGCGGACTGTGGTGGACGTACTTGCTGAGCCTCATCTTCAAGGCCGCCGTGGATGCTGGCTTCCTCTATATCTTCCACCGCCTCTACAAGGATTATGACATGCCCCGCGTGGTGGCCTGCTCCGTGGAGCCTTGCCCCCACACTGTGGACTGTTACATCTCCCGGCCCACGGAGAAGAAGGTCTTCACCTACTACATGGTGACCACAGCTGCCATCTGCATCCTGCTCAACCTCAGTGAAGTCTTCTACCTGGTGGGCAAGAGGTGCATGGAGATCTTCGGCCCCAGGCACCGGCGGCCTCGGTGCCGGGAATGCCTACCCGATACGTGCCCACCATATGTCCTCTCCCAGGGAGGGCACCCTGAGGATGGGAACTCTGTCCTAATGAAGGCTGGGTCGGCCCCAGTGGATGCAGGTGGGTATCCATAACCTGCGAGATCAGCAGATAAGATCAACAGGTCCCCCCCACATGAGGCCACCCAGGAAAAAAGGCAGGGGCAGTGGCATCCTTGCCGTAGCAGGGTGGTGAGGAGGGTGGCTGTGGGGGCTCAGGAAGCTCGCCCAGGGGCCAATGTGGGAGGTTGGGGGTAGTTTGGTCCCTGGGTCCTGAGCCTCAGGGGAGGGAGGTTGATAGCTACTGGGGATTTTGTATATGGCAACAGTATATGTCAAACCTCTTAATAAATATGATTTTCCCAGTACTTTGCAGACCAGGTGGGGAGTGGCCGATAGGAAAACGGGGGGCAGGGGGGATTAGGTGGACCTCAGAGAGGATGCCAAGACTACTCAGTGAGCACCTGAGCACTGGAACCTCAGATCCAGGCTCACCCATCACCCCCCAACACACACAGTGTGTGCCCCCAGAACATGATGGGCTGTGCCCAAAGGCAGAGGCTACTCCAGGGGCCTCTGGGTTGTGCAACCACCTGGCCAAAGCAGGAGGAGAGGAATTCCAGGAGACCCTGTGCCCAGCAGGAGTCAGTTCTCAGTGATCGTCCATCACAGGAATGAGCGTGGGTTGGGCCTCCCTAGCCCTGCCCAGCACAGGTCCCGGATAGGTGAGTCCCCTCTGACGGTGGGAGGGTCACGGCTGAGAGCAAGCCAGGGATGGGAATCTGTCAAGGTGCCCAAGAGGCACATCCTACAGGCCAGGGCCCACTGAGAGTGTCTGAGCTGAAAGGTCCCTTGTGGATCCTGGAGTCTATGGAATTTCATGTTCTTTTTCACTGATACAACTTCCCCATCCCATACTCCCCCACCCCACCACCACTCAGACTTTGGCAACTCCCAGAACCACACCTCCACCCTAACATGCCTCTGAGTCCCACCAAATGCCCACTAGACAATTCCCTGGGAGGCCCCCAGGCATCTCATACCCGCCACTCCCAAGCTGACCTCATCAGCTCACCCAGACCTGCCCCCTTGAAGATGCCCCACCCCATCTCATGCAGGACACAGCTATTCACCCAGCTGCCCAAGCCAGGGGACGAGACAAGCCTGACATCCTTGTCCCTCACACCCCACACCCCCACTGGCACCAAATCCCACTGATTCCAGTCCCTAAATGCCACCTGAATCTGCTCTTCCTCTCCTTACAACAACCTAACTACCTCCTGGACCTCCCCCATCTGCCCTCCGCTACAGGGATGGAGTGATTTATCTGTCTATGCAACTGACCATGTCATTCCACCTGCTTTAAAATTTCTTCCACCATCACCAGCCCCATGCCCTCAGCATGGCCCCCGCTGACCTCCCCACCTCATCCCAGCTTCCTCCCCTTTTCTACCTGCAAGTAATACCAAAGGGCTCCTGGTTCCCCAGGCAGACACGTCATGTGGTGTCATTCCTCGTGCCTTTGTCATGCTATTTCCTCTGGCTAGAATGCCCTTCCCACCCCCTCTGTGATCCTCCCTCGAACCTCTAGGACAGCTTTACCCATCTCTCTAAGTGCCAGCCTCGCTTGTCCCTCTGCCACTCTCCCCAAATCGGAATTGTCACTTCCCCTGAGTGTCTCCCTATCAGTCTGTGAGCCCTTAATGGGCAGGTCACTGAGTCATCCAGGTCCCTGCTGCCTTCAATAAATGCTTGTTAGATGAGTAAATAGTCTGCTTGGGGGAAGGAACTGAGTCTTGTTCATCGGAATCTTCCACCACACCTAGCCTGCGGACTTCAGCAAAGCATTTGTTTGCTTGCTTTGTTTTGTTTTTGTTGTTTCAACTAGAGCCAGCATCAAGGTCTCAC
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Task1_train_652
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This mutation is located in gene GJB3 (gap junction protein beta 3) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Erythrokeratodermia variabilis et progressiva 1
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GGAGAGCCAGGTGCTGAGAAGGAACTGTGCTCTCTCCCTCTCTCCAGTGTAGGGAAGTCTTTCCCCCAATCCCCCTGACCAGGCTGCCCCCTGACCAGGATCCTGCCCACCCTCCTGTCCCCTCCCTCCAAGCTGCCTTGCTGAAAACTCAGCATTCATTTGTTTACCCATTCAGCGCTGAGTGCCTACTATGTGCCAAGCACTGGGCACTAAATATAAAGCAGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGTGCTATAAAGAAAACAGAGGGGGCTGGAAAAATTAGGTGGGCATAGTGGTGTGCACCTGTGGTCCCAGCTACGTGGGAGGCTGAGGTAGGAGGCTCCCTTGAGCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGCAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGCAGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAGGCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTGGCAGGGTGAAAATGTCGAATCTGGGGTTTTGCTAAGCCTAGCGAGAAGCTAGTAGAGTCTTAAACAAGGGAGTGGCATGAACTGATTTAATGGACTCTAGGGGCACAGGGGGAAGGTGAAAAGCCAGTAAAGAGGCCATAATACAGGCCAGAATAATAGTGGTTTGGGGCAGGGTGGTGGCCTCGCAGGCATCACGCATGCTCAGAGGTGCAAGTCAGCTCCAGGGGGACTCACATGCACATAGGCCCACACACACACGTGGACAGGCAGGCGGGTGCTCTCACACCCACAGCAGCACAGAAACAAGGCACACTCAGGCAGACCCACCCGTCCACACCCTCTGAGTCACTCCAGGACTGGGAGGAAGATGTGTGAGTTAAGGCCTGAACAAAGCACATCTTTCCACCACAAGGCCCTGGCAACTAGTGTGGCTGGGGGTGGCTGGGCTTCCCCAGGCCCAGCACAGGGAGCAGGGAGTTTTCTCTAGATATTCCCTGGATCTAGTGTCCTCCCAGGAGTCAGATCATAAGGCTCCATGCACCCCCCACCTGAACTGGTCTCCCCTCTTCACCACCCAGCAGCTGTGAGACCTTGAGCTGGTTATTTCTCCTCTCTGAGCCTCAGTTTCCCTGCTGTAGAATGGGACTCATAACTGCAACTTCACAGTATAGTAGTGAGGCATCCACAAAGTAAACGTTTCAAGAATCTGGTCTAGGGCAGGAGTCCAGCGGAGAAGGGAAGAGGAGGTGGTGGAGAGCACAGGCTCTGGTACCCAACAGCCTGGCCTTGAATCCACCTCTTGTTTTAAGTGAGTGACTTGACCTCTCTAAATTTCACAGTAATGAGTAGCCAGCATTTATGGGGCACTTACTATGTACTACTTGCTTTGCAATCGTTCAATGATCAGTTTCATCTGTAAGTGAGGAGCACTGTAATAACTACCTTATGGGGTCATTCTAAGAGATTAAATGAGGTTCTGCTCATAAAGTGTTTAACTTCATGCCTGACTCTGAGTAAACACTCAATAAATGGTGATTGTTATTATCAGCCAAAGCATATTTGCTTCCTTCCAGCATACTAGCTCTGTTGCCTTTGGTTAAGTTATATAACCTTGCTGTGCCTCAGTTTCCTATCTGCAGCTTGGGAGGAATAACAGTTCTGAACTCAGAGGGTCGTTGTGAGTATTGAACAAGTCAGAACTCAGAACACTGCCTGGTACATAGTAAATGCTCAATAAAGTCACCTATTCATTCATACGATGGTTTTTCCTCTAATTCTCTCAGGTAGGCACGGCCCCCACCAGGCGCCATGGACTGGAAGACACTCCAGGCCCTACTGAGCGGTGTGAACAAGTACTCCACAGCGTTCGGGCGCATCTGGCTGTCCGTGGTGTTCGTCTTCCGGGTGCTGGTATACGTGGTGGCTGCAGAGCGCGTGTGGGGGGATGAGCAGAAGGACTTTGACTGCAACACCAAGCAGCCCGGCTGCACCAACGTCTGCTACGACAACTACTTCCCCATCTCCAACATCCGCCTCTGGGCCCTGCAGCTCATCTTCGTCACATGCCCCTCGCTGCTGGTCATCCTGCACGTGGCCTACCGTGAGGAGCGGGAGCGCCGGCACCGCCAGAAACACGGGGACCAGTGCGCCAAGCTGTACGACAACGCAGGCAAGAAGCACGGAGGCCTGTGGTGGACCTACCTGTTCAGCCTCATCTTCAAGCTCATCATTGAGTTCCTCTTCCTCTACCTGCTGCACACTCTCTGGCATGGCTTCAATATGCCGCGCCTGGTGCAGTGTGCCAACGTGGCCCCCTGCCCCAACATCGTGGACTGCTACATTGCCCGACCTACCGAGAAGAAAATCTTCACCTACTTCATGGTGGGCGCCTCCGCCGTCTGCATCGTACTCACCATCTGTGAGCTCTGCTACCTCATCTGCCACAGGGTCCTGCGAGGCCTGCACAAGGACAAGCCTCGAGGGGGTTGCAGCCCCTCGTCCTCCGCCAGCCGAGCTTCCACCTGCCGCTGCCACCACAAGCTGGTGGAGGCTGGGGAGGTGGATCCAGACCCAGGCAATAACAAGCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCACAGGGCAGGGGTGGGGCAACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAGGTGGAGAGGTCCTACAGGGGCTGAGTGACCCCACTCTGAGTTCACTAAGTTATGCAACTTTCGTTTTGGCAGATATTTTTTGACACTGGGAACTGGGCTGTCTAGCCGGGTATAGGTAACCCACAGGCCCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAGGGGCCACTTAGGGCACTGCTAGCAGGGCTTCAACCAGGAAGGGATCAACCCAGGAAGGGATGATCAGGAGAGGCTTCCCTGAGGACATAATGTGTAAGAGAGGTGAGAAGTGCTCCCAAGCAGACACAACAGCAGCACAGAGGTCTGGAGGCCACACAAAAAGTGATGCTCGCCCTGGGCTAGCCTCAGCAGACCTAAGGCATCTCTACTCCCTCCAGAGGAGCCGCCCAGATTCCTGCAGTGGAGAGGAGGTCTTCCAGCAGCAGCAGGTCTGGAGGGCTGAGAATGAACCTGACTAGAGGTTCTGGAGATACCCAGAGGTCCCCCAGGTCATCACTTGGCTCAGTGGAAGCCCTCTTTCCCCAAATCCTACTCCCTCAGCCTCAGGCAGTGGTGCTCCCATCTTCCTCCCCACAACTGTGCTCAGGCTGGTGCCAGCCTTTCAGACCCTGCTCCCAGGGACTTGGGTGGATGCGCTGATAGAACATCCTCAAGACAGTTTCCTTGAAATCAATAAATACTGTGTTTTATACAGGTTGGCTCTGTCTCTGGTTCTCCCACACTCCCACCCACTGACAGAACCCTGAAGGTAGGGAAAGGTAAGCCCTCAGAAAGGGAAAGAGTTCCATGGCTCGGGGTGGAGCTAGGGTGGGGGCTGTGGCTGTGGCTGCAGCTGGGGCTTGAGCTGGAGCTCGGTTAGGCTGGGGCTGATGTTGACAGCCGGGAGCTGGGTTTGTACCAGAGGAGGAGGCTGGGGTGGAACCTACTGATACATATGTTGGGATTCTAGCTGTGGCCACAAGAGTGCGCTGTGCTCCCTCTGCAACGGTGCTTCCAGCCTTCGTAATTAGACTTCACCCTGAGTACACACACAATCACTGCCACTCTCACTATAGACAAACCACACTCCCTCCTCTGTCACCCAGTCACTGCCATCTCAACACACATCCCCACCCTGTGTACACACAATCTCTGTTATTCATACTCTCACTCCTTATGCGCACTCTCAAC
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GGAGAGCCAGGTGCTGAGAAGGAACTGTGCTCTCTCCCTCTCTCCAGTGTAGGGAAGTCTTTCCCCCAATCCCCCTGACCAGGCTGCCCCCTGACCAGGATCCTGCCCACCCTCCTGTCCCCTCCCTCCAAGCTGCCTTGCTGAAAACTCAGCATTCATTTGTTTACCCATTCAGCGCTGAGTGCCTACTATGTGCCAAGCACTGGGCACTAAATATAAAGCAGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGTGCTATAAAGAAAACAGAGGGGGCTGGAAAAATTAGGTGGGCATAGTGGTGTGCACCTGTGGTCCCAGCTACGTGGGAGGCTGAGGTAGGAGGCTCCCTTGAGCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGCAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGCAGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAGGCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTGGCAGGGTGAAAATGTCGAATCTGGGGTTTTGCTAAGCCTAGCGAGAAGCTAGTAGAGTCTTAAACAAGGGAGTGGCATGAACTGATTTAATGGACTCTAGGGGCACAGGGGGAAGGTGAAAAGCCAGTAAAGAGGCCATAATACAGGCCAGAATAATAGTGGTTTGGGGCAGGGTGGTGGCCTCGCAGGCATCACGCATGCTCAGAGGTGCAAGTCAGCTCCAGGGGGACTCACATGCACATAGGCCCACACACACACGTGGACAGGCAGGCGGGTGCTCTCACACCCACAGCAGCACAGAAACAAGGCACACTCAGGCAGACCCACCCGTCCACACCCTCTGAGTCACTCCAGGACTGGGAGGAAGATGTGTGAGTTAAGGCCTGAACAAAGCACATCTTTCCACCACAAGGCCCTGGCAACTAGTGTGGCTGGGGGTGGCTGGGCTTCCCCAGGCCCAGCACAGGGAGCAGGGAGTTTTCTCTAGATATTCCCTGGATCTAGTGTCCTCCCAGGAGTCAGATCATAAGGCTCCATGCACCCCCCACCTGAACTGGTCTCCCCTCTTCACCACCCAGCAGCTGTGAGACCTTGAGCTGGTTATTTCTCCTCTCTGAGCCTCAGTTTCCCTGCTGTAGAATGGGACTCATAACTGCAACTTCACAGTATAGTAGTGAGGCATCCACAAAGTAAACGTTTCAAGAATCTGGTCTAGGGCAGGAGTCCAGCGGAGAAGGGAAGAGGAGGTGGTGGAGAGCACAGGCTCTGGTACCCAACAGCCTGGCCTTGAATCCACCTCTTGTTTTAAGTGAGTGACTTGACCTCTCTAAATTTCACAGTAATGAGTAGCCAGCATTTATGGGGCACTTACTATGTACTACTTGCTTTGCAATCGTTCAATGATCAGTTTCATCTGTAAGTGAGGAGCACTGTAATAACTACCTTATGGGGTCATTCTAAGAGATTAAATGAGGTTCTGCTCATAAAGTGTTTAACTTCATGCCTGACTCTGAGTAAACACTCAATAAATGGTGATTGTTATTATCAGCCAAAGCATATTTGCTTCCTTCCAGCATACTAGCTCTGTTGCCTTTGGTTAAGTTATATAACCTTGCTGTGCCTCAGTTTCCTATCTGCAGCTTGGGAGGAATAACAGTTCTGAACTCAGAGGGTCGTTGTGAGTATTGAACAAGTCAGAACTCAGAACACTGCCTGGTACATAGTAAATGCTCAATAAAGTCACCTATTCATTCATACGATGGTTTTTCCTCTAATTCTCTCAGGTAGGCACGGCCCCCACCAGGCGCCATGGACTGGAAGACACTCCAGGCCCTACTGAGCCGTGTGAACAAGTACTCCACAGCGTTCGGGCGCATCTGGCTGTCCGTGGTGTTCGTCTTCCGGGTGCTGGTATACGTGGTGGCTGCAGAGCGCGTGTGGGGGGATGAGCAGAAGGACTTTGACTGCAACACCAAGCAGCCCGGCTGCACCAACGTCTGCTACGACAACTACTTCCCCATCTCCAACATCCGCCTCTGGGCCCTGCAGCTCATCTTCGTCACATGCCCCTCGCTGCTGGTCATCCTGCACGTGGCCTACCGTGAGGAGCGGGAGCGCCGGCACCGCCAGAAACACGGGGACCAGTGCGCCAAGCTGTACGACAACGCAGGCAAGAAGCACGGAGGCCTGTGGTGGACCTACCTGTTCAGCCTCATCTTCAAGCTCATCATTGAGTTCCTCTTCCTCTACCTGCTGCACACTCTCTGGCATGGCTTCAATATGCCGCGCCTGGTGCAGTGTGCCAACGTGGCCCCCTGCCCCAACATCGTGGACTGCTACATTGCCCGACCTACCGAGAAGAAAATCTTCACCTACTTCATGGTGGGCGCCTCCGCCGTCTGCATCGTACTCACCATCTGTGAGCTCTGCTACCTCATCTGCCACAGGGTCCTGCGAGGCCTGCACAAGGACAAGCCTCGAGGGGGTTGCAGCCCCTCGTCCTCCGCCAGCCGAGCTTCCACCTGCCGCTGCCACCACAAGCTGGTGGAGGCTGGGGAGGTGGATCCAGACCCAGGCAATAACAAGCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCACAGGGCAGGGGTGGGGCAACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAGGTGGAGAGGTCCTACAGGGGCTGAGTGACCCCACTCTGAGTTCACTAAGTTATGCAACTTTCGTTTTGGCAGATATTTTTTGACACTGGGAACTGGGCTGTCTAGCCGGGTATAGGTAACCCACAGGCCCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAGGGGCCACTTAGGGCACTGCTAGCAGGGCTTCAACCAGGAAGGGATCAACCCAGGAAGGGATGATCAGGAGAGGCTTCCCTGAGGACATAATGTGTAAGAGAGGTGAGAAGTGCTCCCAAGCAGACACAACAGCAGCACAGAGGTCTGGAGGCCACACAAAAAGTGATGCTCGCCCTGGGCTAGCCTCAGCAGACCTAAGGCATCTCTACTCCCTCCAGAGGAGCCGCCCAGATTCCTGCAGTGGAGAGGAGGTCTTCCAGCAGCAGCAGGTCTGGAGGGCTGAGAATGAACCTGACTAGAGGTTCTGGAGATACCCAGAGGTCCCCCAGGTCATCACTTGGCTCAGTGGAAGCCCTCTTTCCCCAAATCCTACTCCCTCAGCCTCAGGCAGTGGTGCTCCCATCTTCCTCCCCACAACTGTGCTCAGGCTGGTGCCAGCCTTTCAGACCCTGCTCCCAGGGACTTGGGTGGATGCGCTGATAGAACATCCTCAAGACAGTTTCCTTGAAATCAATAAATACTGTGTTTTATACAGGTTGGCTCTGTCTCTGGTTCTCCCACACTCCCACCCACTGACAGAACCCTGAAGGTAGGGAAAGGTAAGCCCTCAGAAAGGGAAAGAGTTCCATGGCTCGGGGTGGAGCTAGGGTGGGGGCTGTGGCTGTGGCTGCAGCTGGGGCTTGAGCTGGAGCTCGGTTAGGCTGGGGCTGATGTTGACAGCCGGGAGCTGGGTTTGTACCAGAGGAGGAGGCTGGGGTGGAACCTACTGATACATATGTTGGGATTCTAGCTGTGGCCACAAGAGTGCGCTGTGCTCCCTCTGCAACGGTGCTTCCAGCCTTCGTAATTAGACTTCACCCTGAGTACACACACAATCACTGCCACTCTCACTATAGACAAACCACACTCCCTCCTCTGTCACCCAGTCACTGCCATCTCAACACACATCCCCACCCTGTGTACACACAATCTCTGTTATTCATACTCTCACTCCTTATGCGCACTCTCAAC
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Task1_train_653
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This mutation occurs in GJB3 (gap junction protein beta 3) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; not provided
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GAGAGCCAGGTGCTGAGAAGGAACTGTGCTCTCTCCCTCTCTCCAGTGTAGGGAAGTCTTTCCCCCAATCCCCCTGACCAGGCTGCCCCCTGACCAGGATCCTGCCCACCCTCCTGTCCCCTCCCTCCAAGCTGCCTTGCTGAAAACTCAGCATTCATTTGTTTACCCATTCAGCGCTGAGTGCCTACTATGTGCCAAGCACTGGGCACTAAATATAAAGCAGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGTGCTATAAAGAAAACAGAGGGGGCTGGAAAAATTAGGTGGGCATAGTGGTGTGCACCTGTGGTCCCAGCTACGTGGGAGGCTGAGGTAGGAGGCTCCCTTGAGCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGCAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGCAGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAGGCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTGGCAGGGTGAAAATGTCGAATCTGGGGTTTTGCTAAGCCTAGCGAGAAGCTAGTAGAGTCTTAAACAAGGGAGTGGCATGAACTGATTTAATGGACTCTAGGGGCACAGGGGGAAGGTGAAAAGCCAGTAAAGAGGCCATAATACAGGCCAGAATAATAGTGGTTTGGGGCAGGGTGGTGGCCTCGCAGGCATCACGCATGCTCAGAGGTGCAAGTCAGCTCCAGGGGGACTCACATGCACATAGGCCCACACACACACGTGGACAGGCAGGCGGGTGCTCTCACACCCACAGCAGCACAGAAACAAGGCACACTCAGGCAGACCCACCCGTCCACACCCTCTGAGTCACTCCAGGACTGGGAGGAAGATGTGTGAGTTAAGGCCTGAACAAAGCACATCTTTCCACCACAAGGCCCTGGCAACTAGTGTGGCTGGGGGTGGCTGGGCTTCCCCAGGCCCAGCACAGGGAGCAGGGAGTTTTCTCTAGATATTCCCTGGATCTAGTGTCCTCCCAGGAGTCAGATCATAAGGCTCCATGCACCCCCCACCTGAACTGGTCTCCCCTCTTCACCACCCAGCAGCTGTGAGACCTTGAGCTGGTTATTTCTCCTCTCTGAGCCTCAGTTTCCCTGCTGTAGAATGGGACTCATAACTGCAACTTCACAGTATAGTAGTGAGGCATCCACAAAGTAAACGTTTCAAGAATCTGGTCTAGGGCAGGAGTCCAGCGGAGAAGGGAAGAGGAGGTGGTGGAGAGCACAGGCTCTGGTACCCAACAGCCTGGCCTTGAATCCACCTCTTGTTTTAAGTGAGTGACTTGACCTCTCTAAATTTCACAGTAATGAGTAGCCAGCATTTATGGGGCACTTACTATGTACTACTTGCTTTGCAATCGTTCAATGATCAGTTTCATCTGTAAGTGAGGAGCACTGTAATAACTACCTTATGGGGTCATTCTAAGAGATTAAATGAGGTTCTGCTCATAAAGTGTTTAACTTCATGCCTGACTCTGAGTAAACACTCAATAAATGGTGATTGTTATTATCAGCCAAAGCATATTTGCTTCCTTCCAGCATACTAGCTCTGTTGCCTTTGGTTAAGTTATATAACCTTGCTGTGCCTCAGTTTCCTATCTGCAGCTTGGGAGGAATAACAGTTCTGAACTCAGAGGGTCGTTGTGAGTATTGAACAAGTCAGAACTCAGAACACTGCCTGGTACATAGTAAATGCTCAATAAAGTCACCTATTCATTCATACGATGGTTTTTCCTCTAATTCTCTCAGGTAGGCACGGCCCCCACCAGGCGCCATGGACTGGAAGACACTCCAGGCCCTACTGAGCGGTGTGAACAAGTACTCCACAGCGTTCGGGCGCATCTGGCTGTCCGTGGTGTTCGTCTTCCGGGTGCTGGTATACGTGGTGGCTGCAGAGCGCGTGTGGGGGGATGAGCAGAAGGACTTTGACTGCAACACCAAGCAGCCCGGCTGCACCAACGTCTGCTACGACAACTACTTCCCCATCTCCAACATCCGCCTCTGGGCCCTGCAGCTCATCTTCGTCACATGCCCCTCGCTGCTGGTCATCCTGCACGTGGCCTACCGTGAGGAGCGGGAGCGCCGGCACCGCCAGAAACACGGGGACCAGTGCGCCAAGCTGTACGACAACGCAGGCAAGAAGCACGGAGGCCTGTGGTGGACCTACCTGTTCAGCCTCATCTTCAAGCTCATCATTGAGTTCCTCTTCCTCTACCTGCTGCACACTCTCTGGCATGGCTTCAATATGCCGCGCCTGGTGCAGTGTGCCAACGTGGCCCCCTGCCCCAACATCGTGGACTGCTACATTGCCCGACCTACCGAGAAGAAAATCTTCACCTACTTCATGGTGGGCGCCTCCGCCGTCTGCATCGTACTCACCATCTGTGAGCTCTGCTACCTCATCTGCCACAGGGTCCTGCGAGGCCTGCACAAGGACAAGCCTCGAGGGGGTTGCAGCCCCTCGTCCTCCGCCAGCCGAGCTTCCACCTGCCGCTGCCACCACAAGCTGGTGGAGGCTGGGGAGGTGGATCCAGACCCAGGCAATAACAAGCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCACAGGGCAGGGGTGGGGCAACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAGGTGGAGAGGTCCTACAGGGGCTGAGTGACCCCACTCTGAGTTCACTAAGTTATGCAACTTTCGTTTTGGCAGATATTTTTTGACACTGGGAACTGGGCTGTCTAGCCGGGTATAGGTAACCCACAGGCCCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAGGGGCCACTTAGGGCACTGCTAGCAGGGCTTCAACCAGGAAGGGATCAACCCAGGAAGGGATGATCAGGAGAGGCTTCCCTGAGGACATAATGTGTAAGAGAGGTGAGAAGTGCTCCCAAGCAGACACAACAGCAGCACAGAGGTCTGGAGGCCACACAAAAAGTGATGCTCGCCCTGGGCTAGCCTCAGCAGACCTAAGGCATCTCTACTCCCTCCAGAGGAGCCGCCCAGATTCCTGCAGTGGAGAGGAGGTCTTCCAGCAGCAGCAGGTCTGGAGGGCTGAGAATGAACCTGACTAGAGGTTCTGGAGATACCCAGAGGTCCCCCAGGTCATCACTTGGCTCAGTGGAAGCCCTCTTTCCCCAAATCCTACTCCCTCAGCCTCAGGCAGTGGTGCTCCCATCTTCCTCCCCACAACTGTGCTCAGGCTGGTGCCAGCCTTTCAGACCCTGCTCCCAGGGACTTGGGTGGATGCGCTGATAGAACATCCTCAAGACAGTTTCCTTGAAATCAATAAATACTGTGTTTTATACAGGTTGGCTCTGTCTCTGGTTCTCCCACACTCCCACCCACTGACAGAACCCTGAAGGTAGGGAAAGGTAAGCCCTCAGAAAGGGAAAGAGTTCCATGGCTCGGGGTGGAGCTAGGGTGGGGGCTGTGGCTGTGGCTGCAGCTGGGGCTTGAGCTGGAGCTCGGTTAGGCTGGGGCTGATGTTGACAGCCGGGAGCTGGGTTTGTACCAGAGGAGGAGGCTGGGGTGGAACCTACTGATACATATGTTGGGATTCTAGCTGTGGCCACAAGAGTGCGCTGTGCTCCCTCTGCAACGGTGCTTCCAGCCTTCGTAATTAGACTTCACCCTGAGTACACACACAATCACTGCCACTCTCACTATAGACAAACCACACTCCCTCCTCTGTCACCCAGTCACTGCCATCTCAACACACATCCCCACCCTGTGTACACACAATCTCTGTTATTCATACTCTCACTCCTTATGCGCACTCTCAACA
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GAGAGCCAGGTGCTGAGAAGGAACTGTGCTCTCTCCCTCTCTCCAGTGTAGGGAAGTCTTTCCCCCAATCCCCCTGACCAGGCTGCCCCCTGACCAGGATCCTGCCCACCCTCCTGTCCCCTCCCTCCAAGCTGCCTTGCTGAAAACTCAGCATTCATTTGTTTACCCATTCAGCGCTGAGTGCCTACTATGTGCCAAGCACTGGGCACTAAATATAAAGCAGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGTGCTATAAAGAAAACAGAGGGGGCTGGAAAAATTAGGTGGGCATAGTGGTGTGCACCTGTGGTCCCAGCTACGTGGGAGGCTGAGGTAGGAGGCTCCCTTGAGCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGCAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGCAGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAGGCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTGGCAGGGTGAAAATGTCGAATCTGGGGTTTTGCTAAGCCTAGCGAGAAGCTAGTAGAGTCTTAAACAAGGGAGTGGCATGAACTGATTTAATGGACTCTAGGGGCACAGGGGGAAGGTGAAAAGCCAGTAAAGAGGCCATAATACAGGCCAGAATAATAGTGGTTTGGGGCAGGGTGGTGGCCTCGCAGGCATCACGCATGCTCAGAGGTGCAAGTCAGCTCCAGGGGGACTCACATGCACATAGGCCCACACACACACGTGGACAGGCAGGCGGGTGCTCTCACACCCACAGCAGCACAGAAACAAGGCACACTCAGGCAGACCCACCCGTCCACACCCTCTGAGTCACTCCAGGACTGGGAGGAAGATGTGTGAGTTAAGGCCTGAACAAAGCACATCTTTCCACCACAAGGCCCTGGCAACTAGTGTGGCTGGGGGTGGCTGGGCTTCCCCAGGCCCAGCACAGGGAGCAGGGAGTTTTCTCTAGATATTCCCTGGATCTAGTGTCCTCCCAGGAGTCAGATCATAAGGCTCCATGCACCCCCCACCTGAACTGGTCTCCCCTCTTCACCACCCAGCAGCTGTGAGACCTTGAGCTGGTTATTTCTCCTCTCTGAGCCTCAGTTTCCCTGCTGTAGAATGGGACTCATAACTGCAACTTCACAGTATAGTAGTGAGGCATCCACAAAGTAAACGTTTCAAGAATCTGGTCTAGGGCAGGAGTCCAGCGGAGAAGGGAAGAGGAGGTGGTGGAGAGCACAGGCTCTGGTACCCAACAGCCTGGCCTTGAATCCACCTCTTGTTTTAAGTGAGTGACTTGACCTCTCTAAATTTCACAGTAATGAGTAGCCAGCATTTATGGGGCACTTACTATGTACTACTTGCTTTGCAATCGTTCAATGATCAGTTTCATCTGTAAGTGAGGAGCACTGTAATAACTACCTTATGGGGTCATTCTAAGAGATTAAATGAGGTTCTGCTCATAAAGTGTTTAACTTCATGCCTGACTCTGAGTAAACACTCAATAAATGGTGATTGTTATTATCAGCCAAAGCATATTTGCTTCCTTCCAGCATACTAGCTCTGTTGCCTTTGGTTAAGTTATATAACCTTGCTGTGCCTCAGTTTCCTATCTGCAGCTTGGGAGGAATAACAGTTCTGAACTCAGAGGGTCGTTGTGAGTATTGAACAAGTCAGAACTCAGAACACTGCCTGGTACATAGTAAATGCTCAATAAAGTCACCTATTCATTCATACGATGGTTTTTCCTCTAATTCTCTCAGGTAGGCACGGCCCCCACCAGGCGCCATGGACTGGAAGACACTCCAGGCCCTACTGAGCGATGTGAACAAGTACTCCACAGCGTTCGGGCGCATCTGGCTGTCCGTGGTGTTCGTCTTCCGGGTGCTGGTATACGTGGTGGCTGCAGAGCGCGTGTGGGGGGATGAGCAGAAGGACTTTGACTGCAACACCAAGCAGCCCGGCTGCACCAACGTCTGCTACGACAACTACTTCCCCATCTCCAACATCCGCCTCTGGGCCCTGCAGCTCATCTTCGTCACATGCCCCTCGCTGCTGGTCATCCTGCACGTGGCCTACCGTGAGGAGCGGGAGCGCCGGCACCGCCAGAAACACGGGGACCAGTGCGCCAAGCTGTACGACAACGCAGGCAAGAAGCACGGAGGCCTGTGGTGGACCTACCTGTTCAGCCTCATCTTCAAGCTCATCATTGAGTTCCTCTTCCTCTACCTGCTGCACACTCTCTGGCATGGCTTCAATATGCCGCGCCTGGTGCAGTGTGCCAACGTGGCCCCCTGCCCCAACATCGTGGACTGCTACATTGCCCGACCTACCGAGAAGAAAATCTTCACCTACTTCATGGTGGGCGCCTCCGCCGTCTGCATCGTACTCACCATCTGTGAGCTCTGCTACCTCATCTGCCACAGGGTCCTGCGAGGCCTGCACAAGGACAAGCCTCGAGGGGGTTGCAGCCCCTCGTCCTCCGCCAGCCGAGCTTCCACCTGCCGCTGCCACCACAAGCTGGTGGAGGCTGGGGAGGTGGATCCAGACCCAGGCAATAACAAGCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCACAGGGCAGGGGTGGGGCAACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAGGTGGAGAGGTCCTACAGGGGCTGAGTGACCCCACTCTGAGTTCACTAAGTTATGCAACTTTCGTTTTGGCAGATATTTTTTGACACTGGGAACTGGGCTGTCTAGCCGGGTATAGGTAACCCACAGGCCCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAGGGGCCACTTAGGGCACTGCTAGCAGGGCTTCAACCAGGAAGGGATCAACCCAGGAAGGGATGATCAGGAGAGGCTTCCCTGAGGACATAATGTGTAAGAGAGGTGAGAAGTGCTCCCAAGCAGACACAACAGCAGCACAGAGGTCTGGAGGCCACACAAAAAGTGATGCTCGCCCTGGGCTAGCCTCAGCAGACCTAAGGCATCTCTACTCCCTCCAGAGGAGCCGCCCAGATTCCTGCAGTGGAGAGGAGGTCTTCCAGCAGCAGCAGGTCTGGAGGGCTGAGAATGAACCTGACTAGAGGTTCTGGAGATACCCAGAGGTCCCCCAGGTCATCACTTGGCTCAGTGGAAGCCCTCTTTCCCCAAATCCTACTCCCTCAGCCTCAGGCAGTGGTGCTCCCATCTTCCTCCCCACAACTGTGCTCAGGCTGGTGCCAGCCTTTCAGACCCTGCTCCCAGGGACTTGGGTGGATGCGCTGATAGAACATCCTCAAGACAGTTTCCTTGAAATCAATAAATACTGTGTTTTATACAGGTTGGCTCTGTCTCTGGTTCTCCCACACTCCCACCCACTGACAGAACCCTGAAGGTAGGGAAAGGTAAGCCCTCAGAAAGGGAAAGAGTTCCATGGCTCGGGGTGGAGCTAGGGTGGGGGCTGTGGCTGTGGCTGCAGCTGGGGCTTGAGCTGGAGCTCGGTTAGGCTGGGGCTGATGTTGACAGCCGGGAGCTGGGTTTGTACCAGAGGAGGAGGCTGGGGTGGAACCTACTGATACATATGTTGGGATTCTAGCTGTGGCCACAAGAGTGCGCTGTGCTCCCTCTGCAACGGTGCTTCCAGCCTTCGTAATTAGACTTCACCCTGAGTACACACACAATCACTGCCACTCTCACTATAGACAAACCACACTCCCTCCTCTGTCACCCAGTCACTGCCATCTCAACACACATCCCCACCCTGTGTACACACAATCTCTGTTATTCATACTCTCACTCCTTATGCGCACTCTCAACA
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Task1_train_654
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Here is a mutation in GJB3 (gap junction protein beta 3) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 2B
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AATCCCCCTGACCAGGCTGCCCCCTGACCAGGATCCTGCCCACCCTCCTGTCCCCTCCCTCCAAGCTGCCTTGCTGAAAACTCAGCATTCATTTGTTTACCCATTCAGCGCTGAGTGCCTACTATGTGCCAAGCACTGGGCACTAAATATAAAGCAGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGTGCTATAAAGAAAACAGAGGGGGCTGGAAAAATTAGGTGGGCATAGTGGTGTGCACCTGTGGTCCCAGCTACGTGGGAGGCTGAGGTAGGAGGCTCCCTTGAGCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGCAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGCAGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAGGCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTGGCAGGGTGAAAATGTCGAATCTGGGGTTTTGCTAAGCCTAGCGAGAAGCTAGTAGAGTCTTAAACAAGGGAGTGGCATGAACTGATTTAATGGACTCTAGGGGCACAGGGGGAAGGTGAAAAGCCAGTAAAGAGGCCATAATACAGGCCAGAATAATAGTGGTTTGGGGCAGGGTGGTGGCCTCGCAGGCATCACGCATGCTCAGAGGTGCAAGTCAGCTCCAGGGGGACTCACATGCACATAGGCCCACACACACACGTGGACAGGCAGGCGGGTGCTCTCACACCCACAGCAGCACAGAAACAAGGCACACTCAGGCAGACCCACCCGTCCACACCCTCTGAGTCACTCCAGGACTGGGAGGAAGATGTGTGAGTTAAGGCCTGAACAAAGCACATCTTTCCACCACAAGGCCCTGGCAACTAGTGTGGCTGGGGGTGGCTGGGCTTCCCCAGGCCCAGCACAGGGAGCAGGGAGTTTTCTCTAGATATTCCCTGGATCTAGTGTCCTCCCAGGAGTCAGATCATAAGGCTCCATGCACCCCCCACCTGAACTGGTCTCCCCTCTTCACCACCCAGCAGCTGTGAGACCTTGAGCTGGTTATTTCTCCTCTCTGAGCCTCAGTTTCCCTGCTGTAGAATGGGACTCATAACTGCAACTTCACAGTATAGTAGTGAGGCATCCACAAAGTAAACGTTTCAAGAATCTGGTCTAGGGCAGGAGTCCAGCGGAGAAGGGAAGAGGAGGTGGTGGAGAGCACAGGCTCTGGTACCCAACAGCCTGGCCTTGAATCCACCTCTTGTTTTAAGTGAGTGACTTGACCTCTCTAAATTTCACAGTAATGAGTAGCCAGCATTTATGGGGCACTTACTATGTACTACTTGCTTTGCAATCGTTCAATGATCAGTTTCATCTGTAAGTGAGGAGCACTGTAATAACTACCTTATGGGGTCATTCTAAGAGATTAAATGAGGTTCTGCTCATAAAGTGTTTAACTTCATGCCTGACTCTGAGTAAACACTCAATAAATGGTGATTGTTATTATCAGCCAAAGCATATTTGCTTCCTTCCAGCATACTAGCTCTGTTGCCTTTGGTTAAGTTATATAACCTTGCTGTGCCTCAGTTTCCTATCTGCAGCTTGGGAGGAATAACAGTTCTGAACTCAGAGGGTCGTTGTGAGTATTGAACAAGTCAGAACTCAGAACACTGCCTGGTACATAGTAAATGCTCAATAAAGTCACCTATTCATTCATACGATGGTTTTTCCTCTAATTCTCTCAGGTAGGCACGGCCCCCACCAGGCGCCATGGACTGGAAGACACTCCAGGCCCTACTGAGCGGTGTGAACAAGTACTCCACAGCGTTCGGGCGCATCTGGCTGTCCGTGGTGTTCGTCTTCCGGGTGCTGGTATACGTGGTGGCTGCAGAGCGCGTGTGGGGGGATGAGCAGAAGGACTTTGACTGCAACACCAAGCAGCCCGGCTGCACCAACGTCTGCTACGACAACTACTTCCCCATCTCCAACATCCGCCTCTGGGCCCTGCAGCTCATCTTCGTCACATGCCCCTCGCTGCTGGTCATCCTGCACGTGGCCTACCGTGAGGAGCGGGAGCGCCGGCACCGCCAGAAACACGGGGACCAGTGCGCCAAGCTGTACGACAACGCAGGCAAGAAGCACGGAGGCCTGTGGTGGACCTACCTGTTCAGCCTCATCTTCAAGCTCATCATTGAGTTCCTCTTCCTCTACCTGCTGCACACTCTCTGGCATGGCTTCAATATGCCGCGCCTGGTGCAGTGTGCCAACGTGGCCCCCTGCCCCAACATCGTGGACTGCTACATTGCCCGACCTACCGAGAAGAAAATCTTCACCTACTTCATGGTGGGCGCCTCCGCCGTCTGCATCGTACTCACCATCTGTGAGCTCTGCTACCTCATCTGCCACAGGGTCCTGCGAGGCCTGCACAAGGACAAGCCTCGAGGGGGTTGCAGCCCCTCGTCCTCCGCCAGCCGAGCTTCCACCTGCCGCTGCCACCACAAGCTGGTGGAGGCTGGGGAGGTGGATCCAGACCCAGGCAATAACAAGCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCACAGGGCAGGGGTGGGGCAACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAGGTGGAGAGGTCCTACAGGGGCTGAGTGACCCCACTCTGAGTTCACTAAGTTATGCAACTTTCGTTTTGGCAGATATTTTTTGACACTGGGAACTGGGCTGTCTAGCCGGGTATAGGTAACCCACAGGCCCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAGGGGCCACTTAGGGCACTGCTAGCAGGGCTTCAACCAGGAAGGGATCAACCCAGGAAGGGATGATCAGGAGAGGCTTCCCTGAGGACATAATGTGTAAGAGAGGTGAGAAGTGCTCCCAAGCAGACACAACAGCAGCACAGAGGTCTGGAGGCCACACAAAAAGTGATGCTCGCCCTGGGCTAGCCTCAGCAGACCTAAGGCATCTCTACTCCCTCCAGAGGAGCCGCCCAGATTCCTGCAGTGGAGAGGAGGTCTTCCAGCAGCAGCAGGTCTGGAGGGCTGAGAATGAACCTGACTAGAGGTTCTGGAGATACCCAGAGGTCCCCCAGGTCATCACTTGGCTCAGTGGAAGCCCTCTTTCCCCAAATCCTACTCCCTCAGCCTCAGGCAGTGGTGCTCCCATCTTCCTCCCCACAACTGTGCTCAGGCTGGTGCCAGCCTTTCAGACCCTGCTCCCAGGGACTTGGGTGGATGCGCTGATAGAACATCCTCAAGACAGTTTCCTTGAAATCAATAAATACTGTGTTTTATACAGGTTGGCTCTGTCTCTGGTTCTCCCACACTCCCACCCACTGACAGAACCCTGAAGGTAGGGAAAGGTAAGCCCTCAGAAAGGGAAAGAGTTCCATGGCTCGGGGTGGAGCTAGGGTGGGGGCTGTGGCTGTGGCTGCAGCTGGGGCTTGAGCTGGAGCTCGGTTAGGCTGGGGCTGATGTTGACAGCCGGGAGCTGGGTTTGTACCAGAGGAGGAGGCTGGGGTGGAACCTACTGATACATATGTTGGGATTCTAGCTGTGGCCACAAGAGTGCGCTGTGCTCCCTCTGCAACGGTGCTTCCAGCCTTCGTAATTAGACTTCACCCTGAGTACACACACAATCACTGCCACTCTCACTATAGACAAACCACACTCCCTCCTCTGTCACCCAGTCACTGCCATCTCAACACACATCCCCACCCTGTGTACACACAATCTCTGTTATTCATACTCTCACTCCTTATGCGCACTCTCAACAGGGCATGTAGTCTGCACTCAAGCATGCCATCCCAGCCTCACCCTGCATTTTATTCGGCTCATCCCA
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AATCCCCCTGACCAGGCTGCCCCCTGACCAGGATCCTGCCCACCCTCCTGTCCCCTCCCTCCAAGCTGCCTTGCTGAAAACTCAGCATTCATTTGTTTACCCATTCAGCGCTGAGTGCCTACTATGTGCCAAGCACTGGGCACTAAATATAAAGCAGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGTGCTATAAAGAAAACAGAGGGGGCTGGAAAAATTAGGTGGGCATAGTGGTGTGCACCTGTGGTCCCAGCTACGTGGGAGGCTGAGGTAGGAGGCTCCCTTGAGCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGCAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGCAGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAGGCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTGGCAGGGTGAAAATGTCGAATCTGGGGTTTTGCTAAGCCTAGCGAGAAGCTAGTAGAGTCTTAAACAAGGGAGTGGCATGAACTGATTTAATGGACTCTAGGGGCACAGGGGGAAGGTGAAAAGCCAGTAAAGAGGCCATAATACAGGCCAGAATAATAGTGGTTTGGGGCAGGGTGGTGGCCTCGCAGGCATCACGCATGCTCAGAGGTGCAAGTCAGCTCCAGGGGGACTCACATGCACATAGGCCCACACACACACGTGGACAGGCAGGCGGGTGCTCTCACACCCACAGCAGCACAGAAACAAGGCACACTCAGGCAGACCCACCCGTCCACACCCTCTGAGTCACTCCAGGACTGGGAGGAAGATGTGTGAGTTAAGGCCTGAACAAAGCACATCTTTCCACCACAAGGCCCTGGCAACTAGTGTGGCTGGGGGTGGCTGGGCTTCCCCAGGCCCAGCACAGGGAGCAGGGAGTTTTCTCTAGATATTCCCTGGATCTAGTGTCCTCCCAGGAGTCAGATCATAAGGCTCCATGCACCCCCCACCTGAACTGGTCTCCCCTCTTCACCACCCAGCAGCTGTGAGACCTTGAGCTGGTTATTTCTCCTCTCTGAGCCTCAGTTTCCCTGCTGTAGAATGGGACTCATAACTGCAACTTCACAGTATAGTAGTGAGGCATCCACAAAGTAAACGTTTCAAGAATCTGGTCTAGGGCAGGAGTCCAGCGGAGAAGGGAAGAGGAGGTGGTGGAGAGCACAGGCTCTGGTACCCAACAGCCTGGCCTTGAATCCACCTCTTGTTTTAAGTGAGTGACTTGACCTCTCTAAATTTCACAGTAATGAGTAGCCAGCATTTATGGGGCACTTACTATGTACTACTTGCTTTGCAATCGTTCAATGATCAGTTTCATCTGTAAGTGAGGAGCACTGTAATAACTACCTTATGGGGTCATTCTAAGAGATTAAATGAGGTTCTGCTCATAAAGTGTTTAACTTCATGCCTGACTCTGAGTAAACACTCAATAAATGGTGATTGTTATTATCAGCCAAAGCATATTTGCTTCCTTCCAGCATACTAGCTCTGTTGCCTTTGGTTAAGTTATATAACCTTGCTGTGCCTCAGTTTCCTATCTGCAGCTTGGGAGGAATAACAGTTCTGAACTCAGAGGGTCGTTGTGAGTATTGAACAAGTCAGAACTCAGAACACTGCCTGGTACATAGTAAATGCTCAATAAAGTCACCTATTCATTCATACGATGGTTTTTCCTCTAATTCTCTCAGGTAGGCACGGCCCCCACCAGGCGCCATGGACTGGAAGACACTCCAGGCCCTACTGAGCGGTGTGAACAAGTACTCCACAGCGTTCGGGCGCATCTGGCTGTCCGTGGTGTTCGTCTTCCGGGTGCCGGTATACGTGGTGGCTGCAGAGCGCGTGTGGGGGGATGAGCAGAAGGACTTTGACTGCAACACCAAGCAGCCCGGCTGCACCAACGTCTGCTACGACAACTACTTCCCCATCTCCAACATCCGCCTCTGGGCCCTGCAGCTCATCTTCGTCACATGCCCCTCGCTGCTGGTCATCCTGCACGTGGCCTACCGTGAGGAGCGGGAGCGCCGGCACCGCCAGAAACACGGGGACCAGTGCGCCAAGCTGTACGACAACGCAGGCAAGAAGCACGGAGGCCTGTGGTGGACCTACCTGTTCAGCCTCATCTTCAAGCTCATCATTGAGTTCCTCTTCCTCTACCTGCTGCACACTCTCTGGCATGGCTTCAATATGCCGCGCCTGGTGCAGTGTGCCAACGTGGCCCCCTGCCCCAACATCGTGGACTGCTACATTGCCCGACCTACCGAGAAGAAAATCTTCACCTACTTCATGGTGGGCGCCTCCGCCGTCTGCATCGTACTCACCATCTGTGAGCTCTGCTACCTCATCTGCCACAGGGTCCTGCGAGGCCTGCACAAGGACAAGCCTCGAGGGGGTTGCAGCCCCTCGTCCTCCGCCAGCCGAGCTTCCACCTGCCGCTGCCACCACAAGCTGGTGGAGGCTGGGGAGGTGGATCCAGACCCAGGCAATAACAAGCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCACAGGGCAGGGGTGGGGCAACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAGGTGGAGAGGTCCTACAGGGGCTGAGTGACCCCACTCTGAGTTCACTAAGTTATGCAACTTTCGTTTTGGCAGATATTTTTTGACACTGGGAACTGGGCTGTCTAGCCGGGTATAGGTAACCCACAGGCCCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAGGGGCCACTTAGGGCACTGCTAGCAGGGCTTCAACCAGGAAGGGATCAACCCAGGAAGGGATGATCAGGAGAGGCTTCCCTGAGGACATAATGTGTAAGAGAGGTGAGAAGTGCTCCCAAGCAGACACAACAGCAGCACAGAGGTCTGGAGGCCACACAAAAAGTGATGCTCGCCCTGGGCTAGCCTCAGCAGACCTAAGGCATCTCTACTCCCTCCAGAGGAGCCGCCCAGATTCCTGCAGTGGAGAGGAGGTCTTCCAGCAGCAGCAGGTCTGGAGGGCTGAGAATGAACCTGACTAGAGGTTCTGGAGATACCCAGAGGTCCCCCAGGTCATCACTTGGCTCAGTGGAAGCCCTCTTTCCCCAAATCCTACTCCCTCAGCCTCAGGCAGTGGTGCTCCCATCTTCCTCCCCACAACTGTGCTCAGGCTGGTGCCAGCCTTTCAGACCCTGCTCCCAGGGACTTGGGTGGATGCGCTGATAGAACATCCTCAAGACAGTTTCCTTGAAATCAATAAATACTGTGTTTTATACAGGTTGGCTCTGTCTCTGGTTCTCCCACACTCCCACCCACTGACAGAACCCTGAAGGTAGGGAAAGGTAAGCCCTCAGAAAGGGAAAGAGTTCCATGGCTCGGGGTGGAGCTAGGGTGGGGGCTGTGGCTGTGGCTGCAGCTGGGGCTTGAGCTGGAGCTCGGTTAGGCTGGGGCTGATGTTGACAGCCGGGAGCTGGGTTTGTACCAGAGGAGGAGGCTGGGGTGGAACCTACTGATACATATGTTGGGATTCTAGCTGTGGCCACAAGAGTGCGCTGTGCTCCCTCTGCAACGGTGCTTCCAGCCTTCGTAATTAGACTTCACCCTGAGTACACACACAATCACTGCCACTCTCACTATAGACAAACCACACTCCCTCCTCTGTCACCCAGTCACTGCCATCTCAACACACATCCCCACCCTGTGTACACACAATCTCTGTTATTCATACTCTCACTCCTTATGCGCACTCTCAACAGGGCATGTAGTCTGCACTCAAGCATGCCATCCCAGCCTCACCCTGCATTTTATTCGGCTCATCCCA
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Task1_train_655
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Consider this mutation in GJB3 (gap junction protein beta 3) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Erythrokeratodermia variabilis et progressiva 1
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TGACCAGGATCCTGCCCACCCTCCTGTCCCCTCCCTCCAAGCTGCCTTGCTGAAAACTCAGCATTCATTTGTTTACCCATTCAGCGCTGAGTGCCTACTATGTGCCAAGCACTGGGCACTAAATATAAAGCAGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGTGCTATAAAGAAAACAGAGGGGGCTGGAAAAATTAGGTGGGCATAGTGGTGTGCACCTGTGGTCCCAGCTACGTGGGAGGCTGAGGTAGGAGGCTCCCTTGAGCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGCAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGCAGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAGGCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTGGCAGGGTGAAAATGTCGAATCTGGGGTTTTGCTAAGCCTAGCGAGAAGCTAGTAGAGTCTTAAACAAGGGAGTGGCATGAACTGATTTAATGGACTCTAGGGGCACAGGGGGAAGGTGAAAAGCCAGTAAAGAGGCCATAATACAGGCCAGAATAATAGTGGTTTGGGGCAGGGTGGTGGCCTCGCAGGCATCACGCATGCTCAGAGGTGCAAGTCAGCTCCAGGGGGACTCACATGCACATAGGCCCACACACACACGTGGACAGGCAGGCGGGTGCTCTCACACCCACAGCAGCACAGAAACAAGGCACACTCAGGCAGACCCACCCGTCCACACCCTCTGAGTCACTCCAGGACTGGGAGGAAGATGTGTGAGTTAAGGCCTGAACAAAGCACATCTTTCCACCACAAGGCCCTGGCAACTAGTGTGGCTGGGGGTGGCTGGGCTTCCCCAGGCCCAGCACAGGGAGCAGGGAGTTTTCTCTAGATATTCCCTGGATCTAGTGTCCTCCCAGGAGTCAGATCATAAGGCTCCATGCACCCCCCACCTGAACTGGTCTCCCCTCTTCACCACCCAGCAGCTGTGAGACCTTGAGCTGGTTATTTCTCCTCTCTGAGCCTCAGTTTCCCTGCTGTAGAATGGGACTCATAACTGCAACTTCACAGTATAGTAGTGAGGCATCCACAAAGTAAACGTTTCAAGAATCTGGTCTAGGGCAGGAGTCCAGCGGAGAAGGGAAGAGGAGGTGGTGGAGAGCACAGGCTCTGGTACCCAACAGCCTGGCCTTGAATCCACCTCTTGTTTTAAGTGAGTGACTTGACCTCTCTAAATTTCACAGTAATGAGTAGCCAGCATTTATGGGGCACTTACTATGTACTACTTGCTTTGCAATCGTTCAATGATCAGTTTCATCTGTAAGTGAGGAGCACTGTAATAACTACCTTATGGGGTCATTCTAAGAGATTAAATGAGGTTCTGCTCATAAAGTGTTTAACTTCATGCCTGACTCTGAGTAAACACTCAATAAATGGTGATTGTTATTATCAGCCAAAGCATATTTGCTTCCTTCCAGCATACTAGCTCTGTTGCCTTTGGTTAAGTTATATAACCTTGCTGTGCCTCAGTTTCCTATCTGCAGCTTGGGAGGAATAACAGTTCTGAACTCAGAGGGTCGTTGTGAGTATTGAACAAGTCAGAACTCAGAACACTGCCTGGTACATAGTAAATGCTCAATAAAGTCACCTATTCATTCATACGATGGTTTTTCCTCTAATTCTCTCAGGTAGGCACGGCCCCCACCAGGCGCCATGGACTGGAAGACACTCCAGGCCCTACTGAGCGGTGTGAACAAGTACTCCACAGCGTTCGGGCGCATCTGGCTGTCCGTGGTGTTCGTCTTCCGGGTGCTGGTATACGTGGTGGCTGCAGAGCGCGTGTGGGGGGATGAGCAGAAGGACTTTGACTGCAACACCAAGCAGCCCGGCTGCACCAACGTCTGCTACGACAACTACTTCCCCATCTCCAACATCCGCCTCTGGGCCCTGCAGCTCATCTTCGTCACATGCCCCTCGCTGCTGGTCATCCTGCACGTGGCCTACCGTGAGGAGCGGGAGCGCCGGCACCGCCAGAAACACGGGGACCAGTGCGCCAAGCTGTACGACAACGCAGGCAAGAAGCACGGAGGCCTGTGGTGGACCTACCTGTTCAGCCTCATCTTCAAGCTCATCATTGAGTTCCTCTTCCTCTACCTGCTGCACACTCTCTGGCATGGCTTCAATATGCCGCGCCTGGTGCAGTGTGCCAACGTGGCCCCCTGCCCCAACATCGTGGACTGCTACATTGCCCGACCTACCGAGAAGAAAATCTTCACCTACTTCATGGTGGGCGCCTCCGCCGTCTGCATCGTACTCACCATCTGTGAGCTCTGCTACCTCATCTGCCACAGGGTCCTGCGAGGCCTGCACAAGGACAAGCCTCGAGGGGGTTGCAGCCCCTCGTCCTCCGCCAGCCGAGCTTCCACCTGCCGCTGCCACCACAAGCTGGTGGAGGCTGGGGAGGTGGATCCAGACCCAGGCAATAACAAGCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCACAGGGCAGGGGTGGGGCAACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAGGTGGAGAGGTCCTACAGGGGCTGAGTGACCCCACTCTGAGTTCACTAAGTTATGCAACTTTCGTTTTGGCAGATATTTTTTGACACTGGGAACTGGGCTGTCTAGCCGGGTATAGGTAACCCACAGGCCCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAGGGGCCACTTAGGGCACTGCTAGCAGGGCTTCAACCAGGAAGGGATCAACCCAGGAAGGGATGATCAGGAGAGGCTTCCCTGAGGACATAATGTGTAAGAGAGGTGAGAAGTGCTCCCAAGCAGACACAACAGCAGCACAGAGGTCTGGAGGCCACACAAAAAGTGATGCTCGCCCTGGGCTAGCCTCAGCAGACCTAAGGCATCTCTACTCCCTCCAGAGGAGCCGCCCAGATTCCTGCAGTGGAGAGGAGGTCTTCCAGCAGCAGCAGGTCTGGAGGGCTGAGAATGAACCTGACTAGAGGTTCTGGAGATACCCAGAGGTCCCCCAGGTCATCACTTGGCTCAGTGGAAGCCCTCTTTCCCCAAATCCTACTCCCTCAGCCTCAGGCAGTGGTGCTCCCATCTTCCTCCCCACAACTGTGCTCAGGCTGGTGCCAGCCTTTCAGACCCTGCTCCCAGGGACTTGGGTGGATGCGCTGATAGAACATCCTCAAGACAGTTTCCTTGAAATCAATAAATACTGTGTTTTATACAGGTTGGCTCTGTCTCTGGTTCTCCCACACTCCCACCCACTGACAGAACCCTGAAGGTAGGGAAAGGTAAGCCCTCAGAAAGGGAAAGAGTTCCATGGCTCGGGGTGGAGCTAGGGTGGGGGCTGTGGCTGTGGCTGCAGCTGGGGCTTGAGCTGGAGCTCGGTTAGGCTGGGGCTGATGTTGACAGCCGGGAGCTGGGTTTGTACCAGAGGAGGAGGCTGGGGTGGAACCTACTGATACATATGTTGGGATTCTAGCTGTGGCCACAAGAGTGCGCTGTGCTCCCTCTGCAACGGTGCTTCCAGCCTTCGTAATTAGACTTCACCCTGAGTACACACACAATCACTGCCACTCTCACTATAGACAAACCACACTCCCTCCTCTGTCACCCAGTCACTGCCATCTCAACACACATCCCCACCCTGTGTACACACAATCTCTGTTATTCATACTCTCACTCCTTATGCGCACTCTCAACAGGGCATGTAGTCTGCACTCAAGCATGCCATCCCAGCCTCACCCTGCATTTTATTCGGCTCATCCCATTTTCCCTGAACATTTTCGCTGAA
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TGACCAGGATCCTGCCCACCCTCCTGTCCCCTCCCTCCAAGCTGCCTTGCTGAAAACTCAGCATTCATTTGTTTACCCATTCAGCGCTGAGTGCCTACTATGTGCCAAGCACTGGGCACTAAATATAAAGCAGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGTGCTATAAAGAAAACAGAGGGGGCTGGAAAAATTAGGTGGGCATAGTGGTGTGCACCTGTGGTCCCAGCTACGTGGGAGGCTGAGGTAGGAGGCTCCCTTGAGCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGCAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGCAGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAGGCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTGGCAGGGTGAAAATGTCGAATCTGGGGTTTTGCTAAGCCTAGCGAGAAGCTAGTAGAGTCTTAAACAAGGGAGTGGCATGAACTGATTTAATGGACTCTAGGGGCACAGGGGGAAGGTGAAAAGCCAGTAAAGAGGCCATAATACAGGCCAGAATAATAGTGGTTTGGGGCAGGGTGGTGGCCTCGCAGGCATCACGCATGCTCAGAGGTGCAAGTCAGCTCCAGGGGGACTCACATGCACATAGGCCCACACACACACGTGGACAGGCAGGCGGGTGCTCTCACACCCACAGCAGCACAGAAACAAGGCACACTCAGGCAGACCCACCCGTCCACACCCTCTGAGTCACTCCAGGACTGGGAGGAAGATGTGTGAGTTAAGGCCTGAACAAAGCACATCTTTCCACCACAAGGCCCTGGCAACTAGTGTGGCTGGGGGTGGCTGGGCTTCCCCAGGCCCAGCACAGGGAGCAGGGAGTTTTCTCTAGATATTCCCTGGATCTAGTGTCCTCCCAGGAGTCAGATCATAAGGCTCCATGCACCCCCCACCTGAACTGGTCTCCCCTCTTCACCACCCAGCAGCTGTGAGACCTTGAGCTGGTTATTTCTCCTCTCTGAGCCTCAGTTTCCCTGCTGTAGAATGGGACTCATAACTGCAACTTCACAGTATAGTAGTGAGGCATCCACAAAGTAAACGTTTCAAGAATCTGGTCTAGGGCAGGAGTCCAGCGGAGAAGGGAAGAGGAGGTGGTGGAGAGCACAGGCTCTGGTACCCAACAGCCTGGCCTTGAATCCACCTCTTGTTTTAAGTGAGTGACTTGACCTCTCTAAATTTCACAGTAATGAGTAGCCAGCATTTATGGGGCACTTACTATGTACTACTTGCTTTGCAATCGTTCAATGATCAGTTTCATCTGTAAGTGAGGAGCACTGTAATAACTACCTTATGGGGTCATTCTAAGAGATTAAATGAGGTTCTGCTCATAAAGTGTTTAACTTCATGCCTGACTCTGAGTAAACACTCAATAAATGGTGATTGTTATTATCAGCCAAAGCATATTTGCTTCCTTCCAGCATACTAGCTCTGTTGCCTTTGGTTAAGTTATATAACCTTGCTGTGCCTCAGTTTCCTATCTGCAGCTTGGGAGGAATAACAGTTCTGAACTCAGAGGGTCGTTGTGAGTATTGAACAAGTCAGAACTCAGAACACTGCCTGGTACATAGTAAATGCTCAATAAAGTCACCTATTCATTCATACGATGGTTTTTCCTCTAATTCTCTCAGGTAGGCACGGCCCCCACCAGGCGCCATGGACTGGAAGACACTCCAGGCCCTACTGAGCGGTGTGAACAAGTACTCCACAGCGTTCGGGCGCATCTGGCTGTCCGTGGTGTTCGTCTTCCGGGTGCTGGTATACGTGGTGGCTGCAGAGCCCGTGTGGGGGGATGAGCAGAAGGACTTTGACTGCAACACCAAGCAGCCCGGCTGCACCAACGTCTGCTACGACAACTACTTCCCCATCTCCAACATCCGCCTCTGGGCCCTGCAGCTCATCTTCGTCACATGCCCCTCGCTGCTGGTCATCCTGCACGTGGCCTACCGTGAGGAGCGGGAGCGCCGGCACCGCCAGAAACACGGGGACCAGTGCGCCAAGCTGTACGACAACGCAGGCAAGAAGCACGGAGGCCTGTGGTGGACCTACCTGTTCAGCCTCATCTTCAAGCTCATCATTGAGTTCCTCTTCCTCTACCTGCTGCACACTCTCTGGCATGGCTTCAATATGCCGCGCCTGGTGCAGTGTGCCAACGTGGCCCCCTGCCCCAACATCGTGGACTGCTACATTGCCCGACCTACCGAGAAGAAAATCTTCACCTACTTCATGGTGGGCGCCTCCGCCGTCTGCATCGTACTCACCATCTGTGAGCTCTGCTACCTCATCTGCCACAGGGTCCTGCGAGGCCTGCACAAGGACAAGCCTCGAGGGGGTTGCAGCCCCTCGTCCTCCGCCAGCCGAGCTTCCACCTGCCGCTGCCACCACAAGCTGGTGGAGGCTGGGGAGGTGGATCCAGACCCAGGCAATAACAAGCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCACAGGGCAGGGGTGGGGCAACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAGGTGGAGAGGTCCTACAGGGGCTGAGTGACCCCACTCTGAGTTCACTAAGTTATGCAACTTTCGTTTTGGCAGATATTTTTTGACACTGGGAACTGGGCTGTCTAGCCGGGTATAGGTAACCCACAGGCCCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAGGGGCCACTTAGGGCACTGCTAGCAGGGCTTCAACCAGGAAGGGATCAACCCAGGAAGGGATGATCAGGAGAGGCTTCCCTGAGGACATAATGTGTAAGAGAGGTGAGAAGTGCTCCCAAGCAGACACAACAGCAGCACAGAGGTCTGGAGGCCACACAAAAAGTGATGCTCGCCCTGGGCTAGCCTCAGCAGACCTAAGGCATCTCTACTCCCTCCAGAGGAGCCGCCCAGATTCCTGCAGTGGAGAGGAGGTCTTCCAGCAGCAGCAGGTCTGGAGGGCTGAGAATGAACCTGACTAGAGGTTCTGGAGATACCCAGAGGTCCCCCAGGTCATCACTTGGCTCAGTGGAAGCCCTCTTTCCCCAAATCCTACTCCCTCAGCCTCAGGCAGTGGTGCTCCCATCTTCCTCCCCACAACTGTGCTCAGGCTGGTGCCAGCCTTTCAGACCCTGCTCCCAGGGACTTGGGTGGATGCGCTGATAGAACATCCTCAAGACAGTTTCCTTGAAATCAATAAATACTGTGTTTTATACAGGTTGGCTCTGTCTCTGGTTCTCCCACACTCCCACCCACTGACAGAACCCTGAAGGTAGGGAAAGGTAAGCCCTCAGAAAGGGAAAGAGTTCCATGGCTCGGGGTGGAGCTAGGGTGGGGGCTGTGGCTGTGGCTGCAGCTGGGGCTTGAGCTGGAGCTCGGTTAGGCTGGGGCTGATGTTGACAGCCGGGAGCTGGGTTTGTACCAGAGGAGGAGGCTGGGGTGGAACCTACTGATACATATGTTGGGATTCTAGCTGTGGCCACAAGAGTGCGCTGTGCTCCCTCTGCAACGGTGCTTCCAGCCTTCGTAATTAGACTTCACCCTGAGTACACACACAATCACTGCCACTCTCACTATAGACAAACCACACTCCCTCCTCTGTCACCCAGTCACTGCCATCTCAACACACATCCCCACCCTGTGTACACACAATCTCTGTTATTCATACTCTCACTCCTTATGCGCACTCTCAACAGGGCATGTAGTCTGCACTCAAGCATGCCATCCCAGCCTCACCCTGCATTTTATTCGGCTCATCCCATTTTCCCTGAACATTTTCGCTGAA
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Task1_train_656
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A mutation found in GJB3 (gap junction protein beta 3) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Erythrokeratodermia variabilis et progressiva 1
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AGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGTGCTATAAAGAAAACAGAGGGGGCTGGAAAAATTAGGTGGGCATAGTGGTGTGCACCTGTGGTCCCAGCTACGTGGGAGGCTGAGGTAGGAGGCTCCCTTGAGCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGCAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGCAGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAGGCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTGGCAGGGTGAAAATGTCGAATCTGGGGTTTTGCTAAGCCTAGCGAGAAGCTAGTAGAGTCTTAAACAAGGGAGTGGCATGAACTGATTTAATGGACTCTAGGGGCACAGGGGGAAGGTGAAAAGCCAGTAAAGAGGCCATAATACAGGCCAGAATAATAGTGGTTTGGGGCAGGGTGGTGGCCTCGCAGGCATCACGCATGCTCAGAGGTGCAAGTCAGCTCCAGGGGGACTCACATGCACATAGGCCCACACACACACGTGGACAGGCAGGCGGGTGCTCTCACACCCACAGCAGCACAGAAACAAGGCACACTCAGGCAGACCCACCCGTCCACACCCTCTGAGTCACTCCAGGACTGGGAGGAAGATGTGTGAGTTAAGGCCTGAACAAAGCACATCTTTCCACCACAAGGCCCTGGCAACTAGTGTGGCTGGGGGTGGCTGGGCTTCCCCAGGCCCAGCACAGGGAGCAGGGAGTTTTCTCTAGATATTCCCTGGATCTAGTGTCCTCCCAGGAGTCAGATCATAAGGCTCCATGCACCCCCCACCTGAACTGGTCTCCCCTCTTCACCACCCAGCAGCTGTGAGACCTTGAGCTGGTTATTTCTCCTCTCTGAGCCTCAGTTTCCCTGCTGTAGAATGGGACTCATAACTGCAACTTCACAGTATAGTAGTGAGGCATCCACAAAGTAAACGTTTCAAGAATCTGGTCTAGGGCAGGAGTCCAGCGGAGAAGGGAAGAGGAGGTGGTGGAGAGCACAGGCTCTGGTACCCAACAGCCTGGCCTTGAATCCACCTCTTGTTTTAAGTGAGTGACTTGACCTCTCTAAATTTCACAGTAATGAGTAGCCAGCATTTATGGGGCACTTACTATGTACTACTTGCTTTGCAATCGTTCAATGATCAGTTTCATCTGTAAGTGAGGAGCACTGTAATAACTACCTTATGGGGTCATTCTAAGAGATTAAATGAGGTTCTGCTCATAAAGTGTTTAACTTCATGCCTGACTCTGAGTAAACACTCAATAAATGGTGATTGTTATTATCAGCCAAAGCATATTTGCTTCCTTCCAGCATACTAGCTCTGTTGCCTTTGGTTAAGTTATATAACCTTGCTGTGCCTCAGTTTCCTATCTGCAGCTTGGGAGGAATAACAGTTCTGAACTCAGAGGGTCGTTGTGAGTATTGAACAAGTCAGAACTCAGAACACTGCCTGGTACATAGTAAATGCTCAATAAAGTCACCTATTCATTCATACGATGGTTTTTCCTCTAATTCTCTCAGGTAGGCACGGCCCCCACCAGGCGCCATGGACTGGAAGACACTCCAGGCCCTACTGAGCGGTGTGAACAAGTACTCCACAGCGTTCGGGCGCATCTGGCTGTCCGTGGTGTTCGTCTTCCGGGTGCTGGTATACGTGGTGGCTGCAGAGCGCGTGTGGGGGGATGAGCAGAAGGACTTTGACTGCAACACCAAGCAGCCCGGCTGCACCAACGTCTGCTACGACAACTACTTCCCCATCTCCAACATCCGCCTCTGGGCCCTGCAGCTCATCTTCGTCACATGCCCCTCGCTGCTGGTCATCCTGCACGTGGCCTACCGTGAGGAGCGGGAGCGCCGGCACCGCCAGAAACACGGGGACCAGTGCGCCAAGCTGTACGACAACGCAGGCAAGAAGCACGGAGGCCTGTGGTGGACCTACCTGTTCAGCCTCATCTTCAAGCTCATCATTGAGTTCCTCTTCCTCTACCTGCTGCACACTCTCTGGCATGGCTTCAATATGCCGCGCCTGGTGCAGTGTGCCAACGTGGCCCCCTGCCCCAACATCGTGGACTGCTACATTGCCCGACCTACCGAGAAGAAAATCTTCACCTACTTCATGGTGGGCGCCTCCGCCGTCTGCATCGTACTCACCATCTGTGAGCTCTGCTACCTCATCTGCCACAGGGTCCTGCGAGGCCTGCACAAGGACAAGCCTCGAGGGGGTTGCAGCCCCTCGTCCTCCGCCAGCCGAGCTTCCACCTGCCGCTGCCACCACAAGCTGGTGGAGGCTGGGGAGGTGGATCCAGACCCAGGCAATAACAAGCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCACAGGGCAGGGGTGGGGCAACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAGGTGGAGAGGTCCTACAGGGGCTGAGTGACCCCACTCTGAGTTCACTAAGTTATGCAACTTTCGTTTTGGCAGATATTTTTTGACACTGGGAACTGGGCTGTCTAGCCGGGTATAGGTAACCCACAGGCCCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAGGGGCCACTTAGGGCACTGCTAGCAGGGCTTCAACCAGGAAGGGATCAACCCAGGAAGGGATGATCAGGAGAGGCTTCCCTGAGGACATAATGTGTAAGAGAGGTGAGAAGTGCTCCCAAGCAGACACAACAGCAGCACAGAGGTCTGGAGGCCACACAAAAAGTGATGCTCGCCCTGGGCTAGCCTCAGCAGACCTAAGGCATCTCTACTCCCTCCAGAGGAGCCGCCCAGATTCCTGCAGTGGAGAGGAGGTCTTCCAGCAGCAGCAGGTCTGGAGGGCTGAGAATGAACCTGACTAGAGGTTCTGGAGATACCCAGAGGTCCCCCAGGTCATCACTTGGCTCAGTGGAAGCCCTCTTTCCCCAAATCCTACTCCCTCAGCCTCAGGCAGTGGTGCTCCCATCTTCCTCCCCACAACTGTGCTCAGGCTGGTGCCAGCCTTTCAGACCCTGCTCCCAGGGACTTGGGTGGATGCGCTGATAGAACATCCTCAAGACAGTTTCCTTGAAATCAATAAATACTGTGTTTTATACAGGTTGGCTCTGTCTCTGGTTCTCCCACACTCCCACCCACTGACAGAACCCTGAAGGTAGGGAAAGGTAAGCCCTCAGAAAGGGAAAGAGTTCCATGGCTCGGGGTGGAGCTAGGGTGGGGGCTGTGGCTGTGGCTGCAGCTGGGGCTTGAGCTGGAGCTCGGTTAGGCTGGGGCTGATGTTGACAGCCGGGAGCTGGGTTTGTACCAGAGGAGGAGGCTGGGGTGGAACCTACTGATACATATGTTGGGATTCTAGCTGTGGCCACAAGAGTGCGCTGTGCTCCCTCTGCAACGGTGCTTCCAGCCTTCGTAATTAGACTTCACCCTGAGTACACACACAATCACTGCCACTCTCACTATAGACAAACCACACTCCCTCCTCTGTCACCCAGTCACTGCCATCTCAACACACATCCCCACCCTGTGTACACACAATCTCTGTTATTCATACTCTCACTCCTTATGCGCACTCTCAACAGGGCATGTAGTCTGCACTCAAGCATGCCATCCCAGCCTCACCCTGCATTTTATTCGGCTCATCCCATTTTCCCTGAACATTTTCGCTGAACTAGGGCCCTGGCAGGATGCTGGGACTGTGCAAGGAGGTAGGACCTATGCCCACGGAGCTAAGAGACAGGAACACAGGCTCATCTCCCGCACTAACCAACCCCTGGGATGGCTCACAGCCCTGCTCCCAGT
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AGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGTGCTATAAAGAAAACAGAGGGGGCTGGAAAAATTAGGTGGGCATAGTGGTGTGCACCTGTGGTCCCAGCTACGTGGGAGGCTGAGGTAGGAGGCTCCCTTGAGCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGCAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGCAGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAGGCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTGGCAGGGTGAAAATGTCGAATCTGGGGTTTTGCTAAGCCTAGCGAGAAGCTAGTAGAGTCTTAAACAAGGGAGTGGCATGAACTGATTTAATGGACTCTAGGGGCACAGGGGGAAGGTGAAAAGCCAGTAAAGAGGCCATAATACAGGCCAGAATAATAGTGGTTTGGGGCAGGGTGGTGGCCTCGCAGGCATCACGCATGCTCAGAGGTGCAAGTCAGCTCCAGGGGGACTCACATGCACATAGGCCCACACACACACGTGGACAGGCAGGCGGGTGCTCTCACACCCACAGCAGCACAGAAACAAGGCACACTCAGGCAGACCCACCCGTCCACACCCTCTGAGTCACTCCAGGACTGGGAGGAAGATGTGTGAGTTAAGGCCTGAACAAAGCACATCTTTCCACCACAAGGCCCTGGCAACTAGTGTGGCTGGGGGTGGCTGGGCTTCCCCAGGCCCAGCACAGGGAGCAGGGAGTTTTCTCTAGATATTCCCTGGATCTAGTGTCCTCCCAGGAGTCAGATCATAAGGCTCCATGCACCCCCCACCTGAACTGGTCTCCCCTCTTCACCACCCAGCAGCTGTGAGACCTTGAGCTGGTTATTTCTCCTCTCTGAGCCTCAGTTTCCCTGCTGTAGAATGGGACTCATAACTGCAACTTCACAGTATAGTAGTGAGGCATCCACAAAGTAAACGTTTCAAGAATCTGGTCTAGGGCAGGAGTCCAGCGGAGAAGGGAAGAGGAGGTGGTGGAGAGCACAGGCTCTGGTACCCAACAGCCTGGCCTTGAATCCACCTCTTGTTTTAAGTGAGTGACTTGACCTCTCTAAATTTCACAGTAATGAGTAGCCAGCATTTATGGGGCACTTACTATGTACTACTTGCTTTGCAATCGTTCAATGATCAGTTTCATCTGTAAGTGAGGAGCACTGTAATAACTACCTTATGGGGTCATTCTAAGAGATTAAATGAGGTTCTGCTCATAAAGTGTTTAACTTCATGCCTGACTCTGAGTAAACACTCAATAAATGGTGATTGTTATTATCAGCCAAAGCATATTTGCTTCCTTCCAGCATACTAGCTCTGTTGCCTTTGGTTAAGTTATATAACCTTGCTGTGCCTCAGTTTCCTATCTGCAGCTTGGGAGGAATAACAGTTCTGAACTCAGAGGGTCGTTGTGAGTATTGAACAAGTCAGAACTCAGAACACTGCCTGGTACATAGTAAATGCTCAATAAAGTCACCTATTCATTCATACGATGGTTTTTCCTCTAATTCTCTCAGGTAGGCACGGCCCCCACCAGGCGCCATGGACTGGAAGACACTCCAGGCCCTACTGAGCGGTGTGAACAAGTACTCCACAGCGTTCGGGCGCATCTGGCTGTCCGTGGTGTTCGTCTTCCGGGTGCTGGTATACGTGGTGGCTGCAGAGCGCGTGTGGGGGGATGAGCAGAAGGACTTTGACTGCAACACCAAGCAGCCCGGCTGCACCAACGTCTGCTACGACAACTACTTCCCCATCTCCAACATCCGCCTCTGGGCCCTGCAGCTCATCTTCGTCACAAGCCCCTCGCTGCTGGTCATCCTGCACGTGGCCTACCGTGAGGAGCGGGAGCGCCGGCACCGCCAGAAACACGGGGACCAGTGCGCCAAGCTGTACGACAACGCAGGCAAGAAGCACGGAGGCCTGTGGTGGACCTACCTGTTCAGCCTCATCTTCAAGCTCATCATTGAGTTCCTCTTCCTCTACCTGCTGCACACTCTCTGGCATGGCTTCAATATGCCGCGCCTGGTGCAGTGTGCCAACGTGGCCCCCTGCCCCAACATCGTGGACTGCTACATTGCCCGACCTACCGAGAAGAAAATCTTCACCTACTTCATGGTGGGCGCCTCCGCCGTCTGCATCGTACTCACCATCTGTGAGCTCTGCTACCTCATCTGCCACAGGGTCCTGCGAGGCCTGCACAAGGACAAGCCTCGAGGGGGTTGCAGCCCCTCGTCCTCCGCCAGCCGAGCTTCCACCTGCCGCTGCCACCACAAGCTGGTGGAGGCTGGGGAGGTGGATCCAGACCCAGGCAATAACAAGCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCACAGGGCAGGGGTGGGGCAACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAGGTGGAGAGGTCCTACAGGGGCTGAGTGACCCCACTCTGAGTTCACTAAGTTATGCAACTTTCGTTTTGGCAGATATTTTTTGACACTGGGAACTGGGCTGTCTAGCCGGGTATAGGTAACCCACAGGCCCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAGGGGCCACTTAGGGCACTGCTAGCAGGGCTTCAACCAGGAAGGGATCAACCCAGGAAGGGATGATCAGGAGAGGCTTCCCTGAGGACATAATGTGTAAGAGAGGTGAGAAGTGCTCCCAAGCAGACACAACAGCAGCACAGAGGTCTGGAGGCCACACAAAAAGTGATGCTCGCCCTGGGCTAGCCTCAGCAGACCTAAGGCATCTCTACTCCCTCCAGAGGAGCCGCCCAGATTCCTGCAGTGGAGAGGAGGTCTTCCAGCAGCAGCAGGTCTGGAGGGCTGAGAATGAACCTGACTAGAGGTTCTGGAGATACCCAGAGGTCCCCCAGGTCATCACTTGGCTCAGTGGAAGCCCTCTTTCCCCAAATCCTACTCCCTCAGCCTCAGGCAGTGGTGCTCCCATCTTCCTCCCCACAACTGTGCTCAGGCTGGTGCCAGCCTTTCAGACCCTGCTCCCAGGGACTTGGGTGGATGCGCTGATAGAACATCCTCAAGACAGTTTCCTTGAAATCAATAAATACTGTGTTTTATACAGGTTGGCTCTGTCTCTGGTTCTCCCACACTCCCACCCACTGACAGAACCCTGAAGGTAGGGAAAGGTAAGCCCTCAGAAAGGGAAAGAGTTCCATGGCTCGGGGTGGAGCTAGGGTGGGGGCTGTGGCTGTGGCTGCAGCTGGGGCTTGAGCTGGAGCTCGGTTAGGCTGGGGCTGATGTTGACAGCCGGGAGCTGGGTTTGTACCAGAGGAGGAGGCTGGGGTGGAACCTACTGATACATATGTTGGGATTCTAGCTGTGGCCACAAGAGTGCGCTGTGCTCCCTCTGCAACGGTGCTTCCAGCCTTCGTAATTAGACTTCACCCTGAGTACACACACAATCACTGCCACTCTCACTATAGACAAACCACACTCCCTCCTCTGTCACCCAGTCACTGCCATCTCAACACACATCCCCACCCTGTGTACACACAATCTCTGTTATTCATACTCTCACTCCTTATGCGCACTCTCAACAGGGCATGTAGTCTGCACTCAAGCATGCCATCCCAGCCTCACCCTGCATTTTATTCGGCTCATCCCATTTTCCCTGAACATTTTCGCTGAACTAGGGCCCTGGCAGGATGCTGGGACTGTGCAAGGAGGTAGGACCTATGCCCACGGAGCTAAGAGACAGGAACACAGGCTCATCTCCCGCACTAACCAACCCCTGGGATGGCTCACAGCCCTGCTCCCAGT
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Task1_train_657
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A genomic change on Chromosome 1 affects GJB3 (gap junction protein beta 3). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Hearing loss, autosomal recessive
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CTACGTGGGAGGCTGAGGTAGGAGGCTCCCTTGAGCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGCAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGCAGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAGGCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTGGCAGGGTGAAAATGTCGAATCTGGGGTTTTGCTAAGCCTAGCGAGAAGCTAGTAGAGTCTTAAACAAGGGAGTGGCATGAACTGATTTAATGGACTCTAGGGGCACAGGGGGAAGGTGAAAAGCCAGTAAAGAGGCCATAATACAGGCCAGAATAATAGTGGTTTGGGGCAGGGTGGTGGCCTCGCAGGCATCACGCATGCTCAGAGGTGCAAGTCAGCTCCAGGGGGACTCACATGCACATAGGCCCACACACACACGTGGACAGGCAGGCGGGTGCTCTCACACCCACAGCAGCACAGAAACAAGGCACACTCAGGCAGACCCACCCGTCCACACCCTCTGAGTCACTCCAGGACTGGGAGGAAGATGTGTGAGTTAAGGCCTGAACAAAGCACATCTTTCCACCACAAGGCCCTGGCAACTAGTGTGGCTGGGGGTGGCTGGGCTTCCCCAGGCCCAGCACAGGGAGCAGGGAGTTTTCTCTAGATATTCCCTGGATCTAGTGTCCTCCCAGGAGTCAGATCATAAGGCTCCATGCACCCCCCACCTGAACTGGTCTCCCCTCTTCACCACCCAGCAGCTGTGAGACCTTGAGCTGGTTATTTCTCCTCTCTGAGCCTCAGTTTCCCTGCTGTAGAATGGGACTCATAACTGCAACTTCACAGTATAGTAGTGAGGCATCCACAAAGTAAACGTTTCAAGAATCTGGTCTAGGGCAGGAGTCCAGCGGAGAAGGGAAGAGGAGGTGGTGGAGAGCACAGGCTCTGGTACCCAACAGCCTGGCCTTGAATCCACCTCTTGTTTTAAGTGAGTGACTTGACCTCTCTAAATTTCACAGTAATGAGTAGCCAGCATTTATGGGGCACTTACTATGTACTACTTGCTTTGCAATCGTTCAATGATCAGTTTCATCTGTAAGTGAGGAGCACTGTAATAACTACCTTATGGGGTCATTCTAAGAGATTAAATGAGGTTCTGCTCATAAAGTGTTTAACTTCATGCCTGACTCTGAGTAAACACTCAATAAATGGTGATTGTTATTATCAGCCAAAGCATATTTGCTTCCTTCCAGCATACTAGCTCTGTTGCCTTTGGTTAAGTTATATAACCTTGCTGTGCCTCAGTTTCCTATCTGCAGCTTGGGAGGAATAACAGTTCTGAACTCAGAGGGTCGTTGTGAGTATTGAACAAGTCAGAACTCAGAACACTGCCTGGTACATAGTAAATGCTCAATAAAGTCACCTATTCATTCATACGATGGTTTTTCCTCTAATTCTCTCAGGTAGGCACGGCCCCCACCAGGCGCCATGGACTGGAAGACACTCCAGGCCCTACTGAGCGGTGTGAACAAGTACTCCACAGCGTTCGGGCGCATCTGGCTGTCCGTGGTGTTCGTCTTCCGGGTGCTGGTATACGTGGTGGCTGCAGAGCGCGTGTGGGGGGATGAGCAGAAGGACTTTGACTGCAACACCAAGCAGCCCGGCTGCACCAACGTCTGCTACGACAACTACTTCCCCATCTCCAACATCCGCCTCTGGGCCCTGCAGCTCATCTTCGTCACATGCCCCTCGCTGCTGGTCATCCTGCACGTGGCCTACCGTGAGGAGCGGGAGCGCCGGCACCGCCAGAAACACGGGGACCAGTGCGCCAAGCTGTACGACAACGCAGGCAAGAAGCACGGAGGCCTGTGGTGGACCTACCTGTTCAGCCTCATCTTCAAGCTCATCATTGAGTTCCTCTTCCTCTACCTGCTGCACACTCTCTGGCATGGCTTCAATATGCCGCGCCTGGTGCAGTGTGCCAACGTGGCCCCCTGCCCCAACATCGTGGACTGCTACATTGCCCGACCTACCGAGAAGAAAATCTTCACCTACTTCATGGTGGGCGCCTCCGCCGTCTGCATCGTACTCACCATCTGTGAGCTCTGCTACCTCATCTGCCACAGGGTCCTGCGAGGCCTGCACAAGGACAAGCCTCGAGGGGGTTGCAGCCCCTCGTCCTCCGCCAGCCGAGCTTCCACCTGCCGCTGCCACCACAAGCTGGTGGAGGCTGGGGAGGTGGATCCAGACCCAGGCAATAACAAGCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCACAGGGCAGGGGTGGGGCAACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAGGTGGAGAGGTCCTACAGGGGCTGAGTGACCCCACTCTGAGTTCACTAAGTTATGCAACTTTCGTTTTGGCAGATATTTTTTGACACTGGGAACTGGGCTGTCTAGCCGGGTATAGGTAACCCACAGGCCCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAGGGGCCACTTAGGGCACTGCTAGCAGGGCTTCAACCAGGAAGGGATCAACCCAGGAAGGGATGATCAGGAGAGGCTTCCCTGAGGACATAATGTGTAAGAGAGGTGAGAAGTGCTCCCAAGCAGACACAACAGCAGCACAGAGGTCTGGAGGCCACACAAAAAGTGATGCTCGCCCTGGGCTAGCCTCAGCAGACCTAAGGCATCTCTACTCCCTCCAGAGGAGCCGCCCAGATTCCTGCAGTGGAGAGGAGGTCTTCCAGCAGCAGCAGGTCTGGAGGGCTGAGAATGAACCTGACTAGAGGTTCTGGAGATACCCAGAGGTCCCCCAGGTCATCACTTGGCTCAGTGGAAGCCCTCTTTCCCCAAATCCTACTCCCTCAGCCTCAGGCAGTGGTGCTCCCATCTTCCTCCCCACAACTGTGCTCAGGCTGGTGCCAGCCTTTCAGACCCTGCTCCCAGGGACTTGGGTGGATGCGCTGATAGAACATCCTCAAGACAGTTTCCTTGAAATCAATAAATACTGTGTTTTATACAGGTTGGCTCTGTCTCTGGTTCTCCCACACTCCCACCCACTGACAGAACCCTGAAGGTAGGGAAAGGTAAGCCCTCAGAAAGGGAAAGAGTTCCATGGCTCGGGGTGGAGCTAGGGTGGGGGCTGTGGCTGTGGCTGCAGCTGGGGCTTGAGCTGGAGCTCGGTTAGGCTGGGGCTGATGTTGACAGCCGGGAGCTGGGTTTGTACCAGAGGAGGAGGCTGGGGTGGAACCTACTGATACATATGTTGGGATTCTAGCTGTGGCCACAAGAGTGCGCTGTGCTCCCTCTGCAACGGTGCTTCCAGCCTTCGTAATTAGACTTCACCCTGAGTACACACACAATCACTGCCACTCTCACTATAGACAAACCACACTCCCTCCTCTGTCACCCAGTCACTGCCATCTCAACACACATCCCCACCCTGTGTACACACAATCTCTGTTATTCATACTCTCACTCCTTATGCGCACTCTCAACAGGGCATGTAGTCTGCACTCAAGCATGCCATCCCAGCCTCACCCTGCATTTTATTCGGCTCATCCCATTTTCCCTGAACATTTTCGCTGAACTAGGGCCCTGGCAGGATGCTGGGACTGTGCAAGGAGGTAGGACCTATGCCCACGGAGCTAAGAGACAGGAACACAGGCTCATCTCCCGCACTAACCAACCCCTGGGATGGCTCACAGCCCTGCTCCCAGTGCTGTGTCATGACCTGAAATTTAGGGGACACCAACACCCAAGGCCAGACCCAAATGGAAAGCAAAAGAGGATGCAAGGCTATATTAACCCAGTGGAACACTTAGTGACTATCACAGCCGAGGCCGGGAGTCAGAAATTCAGGAGCCAGTGAGCCAAGCGCCACAG
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CTACGTGGGAGGCTGAGGTAGGAGGCTCCCTTGAGCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGCAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGCAGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAGGCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTGGCAGGGTGAAAATGTCGAATCTGGGGTTTTGCTAAGCCTAGCGAGAAGCTAGTAGAGTCTTAAACAAGGGAGTGGCATGAACTGATTTAATGGACTCTAGGGGCACAGGGGGAAGGTGAAAAGCCAGTAAAGAGGCCATAATACAGGCCAGAATAATAGTGGTTTGGGGCAGGGTGGTGGCCTCGCAGGCATCACGCATGCTCAGAGGTGCAAGTCAGCTCCAGGGGGACTCACATGCACATAGGCCCACACACACACGTGGACAGGCAGGCGGGTGCTCTCACACCCACAGCAGCACAGAAACAAGGCACACTCAGGCAGACCCACCCGTCCACACCCTCTGAGTCACTCCAGGACTGGGAGGAAGATGTGTGAGTTAAGGCCTGAACAAAGCACATCTTTCCACCACAAGGCCCTGGCAACTAGTGTGGCTGGGGGTGGCTGGGCTTCCCCAGGCCCAGCACAGGGAGCAGGGAGTTTTCTCTAGATATTCCCTGGATCTAGTGTCCTCCCAGGAGTCAGATCATAAGGCTCCATGCACCCCCCACCTGAACTGGTCTCCCCTCTTCACCACCCAGCAGCTGTGAGACCTTGAGCTGGTTATTTCTCCTCTCTGAGCCTCAGTTTCCCTGCTGTAGAATGGGACTCATAACTGCAACTTCACAGTATAGTAGTGAGGCATCCACAAAGTAAACGTTTCAAGAATCTGGTCTAGGGCAGGAGTCCAGCGGAGAAGGGAAGAGGAGGTGGTGGAGAGCACAGGCTCTGGTACCCAACAGCCTGGCCTTGAATCCACCTCTTGTTTTAAGTGAGTGACTTGACCTCTCTAAATTTCACAGTAATGAGTAGCCAGCATTTATGGGGCACTTACTATGTACTACTTGCTTTGCAATCGTTCAATGATCAGTTTCATCTGTAAGTGAGGAGCACTGTAATAACTACCTTATGGGGTCATTCTAAGAGATTAAATGAGGTTCTGCTCATAAAGTGTTTAACTTCATGCCTGACTCTGAGTAAACACTCAATAAATGGTGATTGTTATTATCAGCCAAAGCATATTTGCTTCCTTCCAGCATACTAGCTCTGTTGCCTTTGGTTAAGTTATATAACCTTGCTGTGCCTCAGTTTCCTATCTGCAGCTTGGGAGGAATAACAGTTCTGAACTCAGAGGGTCGTTGTGAGTATTGAACAAGTCAGAACTCAGAACACTGCCTGGTACATAGTAAATGCTCAATAAAGTCACCTATTCATTCATACGATGGTTTTTCCTCTAATTCTCTCAGGTAGGCACGGCCCCCACCAGGCGCCATGGACTGGAAGACACTCCAGGCCCTACTGAGCGGTGTGAACAAGTACTCCACAGCGTTCGGGCGCATCTGGCTGTCCGTGGTGTTCGTCTTCCGGGTGCTGGTATACGTGGTGGCTGCAGAGCGCGTGTGGGGGGATGAGCAGAAGGACTTTGACTGCAACACCAAGCAGCCCGGCTGCACCAACGTCTGCTACGACAACTACTTCCCCATCTCCAACATCCGCCTCTGGGCCCTGCAGCTCATCTTCGTCACATGCCCCTCGCTGCTGGTCATCCTGCACGTGGCCTACCGTGAGGAGCGGGAGCGCCGGCACCGCCAGAAACACGGGGACCAGTGCGCCAAGCTGTACGACAACGCAGGCAAGAAGCACGGAGGCCTGTGGTGGACCTACCTGTTCAGCCTCATCTTCAAGCTCATCGTTGAGTTCCTCTTCCTCTACCTGCTGCACACTCTCTGGCATGGCTTCAATATGCCGCGCCTGGTGCAGTGTGCCAACGTGGCCCCCTGCCCCAACATCGTGGACTGCTACATTGCCCGACCTACCGAGAAGAAAATCTTCACCTACTTCATGGTGGGCGCCTCCGCCGTCTGCATCGTACTCACCATCTGTGAGCTCTGCTACCTCATCTGCCACAGGGTCCTGCGAGGCCTGCACAAGGACAAGCCTCGAGGGGGTTGCAGCCCCTCGTCCTCCGCCAGCCGAGCTTCCACCTGCCGCTGCCACCACAAGCTGGTGGAGGCTGGGGAGGTGGATCCAGACCCAGGCAATAACAAGCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCACAGGGCAGGGGTGGGGCAACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAGGTGGAGAGGTCCTACAGGGGCTGAGTGACCCCACTCTGAGTTCACTAAGTTATGCAACTTTCGTTTTGGCAGATATTTTTTGACACTGGGAACTGGGCTGTCTAGCCGGGTATAGGTAACCCACAGGCCCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAGGGGCCACTTAGGGCACTGCTAGCAGGGCTTCAACCAGGAAGGGATCAACCCAGGAAGGGATGATCAGGAGAGGCTTCCCTGAGGACATAATGTGTAAGAGAGGTGAGAAGTGCTCCCAAGCAGACACAACAGCAGCACAGAGGTCTGGAGGCCACACAAAAAGTGATGCTCGCCCTGGGCTAGCCTCAGCAGACCTAAGGCATCTCTACTCCCTCCAGAGGAGCCGCCCAGATTCCTGCAGTGGAGAGGAGGTCTTCCAGCAGCAGCAGGTCTGGAGGGCTGAGAATGAACCTGACTAGAGGTTCTGGAGATACCCAGAGGTCCCCCAGGTCATCACTTGGCTCAGTGGAAGCCCTCTTTCCCCAAATCCTACTCCCTCAGCCTCAGGCAGTGGTGCTCCCATCTTCCTCCCCACAACTGTGCTCAGGCTGGTGCCAGCCTTTCAGACCCTGCTCCCAGGGACTTGGGTGGATGCGCTGATAGAACATCCTCAAGACAGTTTCCTTGAAATCAATAAATACTGTGTTTTATACAGGTTGGCTCTGTCTCTGGTTCTCCCACACTCCCACCCACTGACAGAACCCTGAAGGTAGGGAAAGGTAAGCCCTCAGAAAGGGAAAGAGTTCCATGGCTCGGGGTGGAGCTAGGGTGGGGGCTGTGGCTGTGGCTGCAGCTGGGGCTTGAGCTGGAGCTCGGTTAGGCTGGGGCTGATGTTGACAGCCGGGAGCTGGGTTTGTACCAGAGGAGGAGGCTGGGGTGGAACCTACTGATACATATGTTGGGATTCTAGCTGTGGCCACAAGAGTGCGCTGTGCTCCCTCTGCAACGGTGCTTCCAGCCTTCGTAATTAGACTTCACCCTGAGTACACACACAATCACTGCCACTCTCACTATAGACAAACCACACTCCCTCCTCTGTCACCCAGTCACTGCCATCTCAACACACATCCCCACCCTGTGTACACACAATCTCTGTTATTCATACTCTCACTCCTTATGCGCACTCTCAACAGGGCATGTAGTCTGCACTCAAGCATGCCATCCCAGCCTCACCCTGCATTTTATTCGGCTCATCCCATTTTCCCTGAACATTTTCGCTGAACTAGGGCCCTGGCAGGATGCTGGGACTGTGCAAGGAGGTAGGACCTATGCCCACGGAGCTAAGAGACAGGAACACAGGCTCATCTCCCGCACTAACCAACCCCTGGGATGGCTCACAGCCCTGCTCCCAGTGCTGTGTCATGACCTGAAATTTAGGGGACACCAACACCCAAGGCCAGACCCAAATGGAAAGCAAAAGAGGATGCAAGGCTATATTAACCCAGTGGAACACTTAGTGACTATCACAGCCGAGGCCGGGAGTCAGAAATTCAGGAGCCAGTGAGCCAAGCGCCACAG
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Task1_train_658
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A variant was discovered on Chromosome 1, affecting GJB3 (gap junction protein beta 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Deafness, digenic, GJB2/GJB3
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GCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGCAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGCAGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAGGCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTGGCAGGGTGAAAATGTCGAATCTGGGGTTTTGCTAAGCCTAGCGAGAAGCTAGTAGAGTCTTAAACAAGGGAGTGGCATGAACTGATTTAATGGACTCTAGGGGCACAGGGGGAAGGTGAAAAGCCAGTAAAGAGGCCATAATACAGGCCAGAATAATAGTGGTTTGGGGCAGGGTGGTGGCCTCGCAGGCATCACGCATGCTCAGAGGTGCAAGTCAGCTCCAGGGGGACTCACATGCACATAGGCCCACACACACACGTGGACAGGCAGGCGGGTGCTCTCACACCCACAGCAGCACAGAAACAAGGCACACTCAGGCAGACCCACCCGTCCACACCCTCTGAGTCACTCCAGGACTGGGAGGAAGATGTGTGAGTTAAGGCCTGAACAAAGCACATCTTTCCACCACAAGGCCCTGGCAACTAGTGTGGCTGGGGGTGGCTGGGCTTCCCCAGGCCCAGCACAGGGAGCAGGGAGTTTTCTCTAGATATTCCCTGGATCTAGTGTCCTCCCAGGAGTCAGATCATAAGGCTCCATGCACCCCCCACCTGAACTGGTCTCCCCTCTTCACCACCCAGCAGCTGTGAGACCTTGAGCTGGTTATTTCTCCTCTCTGAGCCTCAGTTTCCCTGCTGTAGAATGGGACTCATAACTGCAACTTCACAGTATAGTAGTGAGGCATCCACAAAGTAAACGTTTCAAGAATCTGGTCTAGGGCAGGAGTCCAGCGGAGAAGGGAAGAGGAGGTGGTGGAGAGCACAGGCTCTGGTACCCAACAGCCTGGCCTTGAATCCACCTCTTGTTTTAAGTGAGTGACTTGACCTCTCTAAATTTCACAGTAATGAGTAGCCAGCATTTATGGGGCACTTACTATGTACTACTTGCTTTGCAATCGTTCAATGATCAGTTTCATCTGTAAGTGAGGAGCACTGTAATAACTACCTTATGGGGTCATTCTAAGAGATTAAATGAGGTTCTGCTCATAAAGTGTTTAACTTCATGCCTGACTCTGAGTAAACACTCAATAAATGGTGATTGTTATTATCAGCCAAAGCATATTTGCTTCCTTCCAGCATACTAGCTCTGTTGCCTTTGGTTAAGTTATATAACCTTGCTGTGCCTCAGTTTCCTATCTGCAGCTTGGGAGGAATAACAGTTCTGAACTCAGAGGGTCGTTGTGAGTATTGAACAAGTCAGAACTCAGAACACTGCCTGGTACATAGTAAATGCTCAATAAAGTCACCTATTCATTCATACGATGGTTTTTCCTCTAATTCTCTCAGGTAGGCACGGCCCCCACCAGGCGCCATGGACTGGAAGACACTCCAGGCCCTACTGAGCGGTGTGAACAAGTACTCCACAGCGTTCGGGCGCATCTGGCTGTCCGTGGTGTTCGTCTTCCGGGTGCTGGTATACGTGGTGGCTGCAGAGCGCGTGTGGGGGGATGAGCAGAAGGACTTTGACTGCAACACCAAGCAGCCCGGCTGCACCAACGTCTGCTACGACAACTACTTCCCCATCTCCAACATCCGCCTCTGGGCCCTGCAGCTCATCTTCGTCACATGCCCCTCGCTGCTGGTCATCCTGCACGTGGCCTACCGTGAGGAGCGGGAGCGCCGGCACCGCCAGAAACACGGGGACCAGTGCGCCAAGCTGTACGACAACGCAGGCAAGAAGCACGGAGGCCTGTGGTGGACCTACCTGTTCAGCCTCATCTTCAAGCTCATCATTGAGTTCCTCTTCCTCTACCTGCTGCACACTCTCTGGCATGGCTTCAATATGCCGCGCCTGGTGCAGTGTGCCAACGTGGCCCCCTGCCCCAACATCGTGGACTGCTACATTGCCCGACCTACCGAGAAGAAAATCTTCACCTACTTCATGGTGGGCGCCTCCGCCGTCTGCATCGTACTCACCATCTGTGAGCTCTGCTACCTCATCTGCCACAGGGTCCTGCGAGGCCTGCACAAGGACAAGCCTCGAGGGGGTTGCAGCCCCTCGTCCTCCGCCAGCCGAGCTTCCACCTGCCGCTGCCACCACAAGCTGGTGGAGGCTGGGGAGGTGGATCCAGACCCAGGCAATAACAAGCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCACAGGGCAGGGGTGGGGCAACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAGGTGGAGAGGTCCTACAGGGGCTGAGTGACCCCACTCTGAGTTCACTAAGTTATGCAACTTTCGTTTTGGCAGATATTTTTTGACACTGGGAACTGGGCTGTCTAGCCGGGTATAGGTAACCCACAGGCCCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAGGGGCCACTTAGGGCACTGCTAGCAGGGCTTCAACCAGGAAGGGATCAACCCAGGAAGGGATGATCAGGAGAGGCTTCCCTGAGGACATAATGTGTAAGAGAGGTGAGAAGTGCTCCCAAGCAGACACAACAGCAGCACAGAGGTCTGGAGGCCACACAAAAAGTGATGCTCGCCCTGGGCTAGCCTCAGCAGACCTAAGGCATCTCTACTCCCTCCAGAGGAGCCGCCCAGATTCCTGCAGTGGAGAGGAGGTCTTCCAGCAGCAGCAGGTCTGGAGGGCTGAGAATGAACCTGACTAGAGGTTCTGGAGATACCCAGAGGTCCCCCAGGTCATCACTTGGCTCAGTGGAAGCCCTCTTTCCCCAAATCCTACTCCCTCAGCCTCAGGCAGTGGTGCTCCCATCTTCCTCCCCACAACTGTGCTCAGGCTGGTGCCAGCCTTTCAGACCCTGCTCCCAGGGACTTGGGTGGATGCGCTGATAGAACATCCTCAAGACAGTTTCCTTGAAATCAATAAATACTGTGTTTTATACAGGTTGGCTCTGTCTCTGGTTCTCCCACACTCCCACCCACTGACAGAACCCTGAAGGTAGGGAAAGGTAAGCCCTCAGAAAGGGAAAGAGTTCCATGGCTCGGGGTGGAGCTAGGGTGGGGGCTGTGGCTGTGGCTGCAGCTGGGGCTTGAGCTGGAGCTCGGTTAGGCTGGGGCTGATGTTGACAGCCGGGAGCTGGGTTTGTACCAGAGGAGGAGGCTGGGGTGGAACCTACTGATACATATGTTGGGATTCTAGCTGTGGCCACAAGAGTGCGCTGTGCTCCCTCTGCAACGGTGCTTCCAGCCTTCGTAATTAGACTTCACCCTGAGTACACACACAATCACTGCCACTCTCACTATAGACAAACCACACTCCCTCCTCTGTCACCCAGTCACTGCCATCTCAACACACATCCCCACCCTGTGTACACACAATCTCTGTTATTCATACTCTCACTCCTTATGCGCACTCTCAACAGGGCATGTAGTCTGCACTCAAGCATGCCATCCCAGCCTCACCCTGCATTTTATTCGGCTCATCCCATTTTCCCTGAACATTTTCGCTGAACTAGGGCCCTGGCAGGATGCTGGGACTGTGCAAGGAGGTAGGACCTATGCCCACGGAGCTAAGAGACAGGAACACAGGCTCATCTCCCGCACTAACCAACCCCTGGGATGGCTCACAGCCCTGCTCCCAGTGCTGTGTCATGACCTGAAATTTAGGGGACACCAACACCCAAGGCCAGACCCAAATGGAAAGCAAAAGAGGATGCAAGGCTATATTAACCCAGTGGAACACTTAGTGACTATCACAGCCGAGGCCGGGAGTCAGAAATTCAGGAGCCAGTGAGCCAAGCGCCACAGCCAGCAAAGACAGGTGGGGTCATCACGGAAACAGAACAGCCAGTGGTTCACCTGTGCTCTCACAAGTAGCCATTTG
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GCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGCAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGCAGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAGGCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTGGCAGGGTGAAAATGTCGAATCTGGGGTTTTGCTAAGCCTAGCGAGAAGCTAGTAGAGTCTTAAACAAGGGAGTGGCATGAACTGATTTAATGGACTCTAGGGGCACAGGGGGAAGGTGAAAAGCCAGTAAAGAGGCCATAATACAGGCCAGAATAATAGTGGTTTGGGGCAGGGTGGTGGCCTCGCAGGCATCACGCATGCTCAGAGGTGCAAGTCAGCTCCAGGGGGACTCACATGCACATAGGCCCACACACACACGTGGACAGGCAGGCGGGTGCTCTCACACCCACAGCAGCACAGAAACAAGGCACACTCAGGCAGACCCACCCGTCCACACCCTCTGAGTCACTCCAGGACTGGGAGGAAGATGTGTGAGTTAAGGCCTGAACAAAGCACATCTTTCCACCACAAGGCCCTGGCAACTAGTGTGGCTGGGGGTGGCTGGGCTTCCCCAGGCCCAGCACAGGGAGCAGGGAGTTTTCTCTAGATATTCCCTGGATCTAGTGTCCTCCCAGGAGTCAGATCATAAGGCTCCATGCACCCCCCACCTGAACTGGTCTCCCCTCTTCACCACCCAGCAGCTGTGAGACCTTGAGCTGGTTATTTCTCCTCTCTGAGCCTCAGTTTCCCTGCTGTAGAATGGGACTCATAACTGCAACTTCACAGTATAGTAGTGAGGCATCCACAAAGTAAACGTTTCAAGAATCTGGTCTAGGGCAGGAGTCCAGCGGAGAAGGGAAGAGGAGGTGGTGGAGAGCACAGGCTCTGGTACCCAACAGCCTGGCCTTGAATCCACCTCTTGTTTTAAGTGAGTGACTTGACCTCTCTAAATTTCACAGTAATGAGTAGCCAGCATTTATGGGGCACTTACTATGTACTACTTGCTTTGCAATCGTTCAATGATCAGTTTCATCTGTAAGTGAGGAGCACTGTAATAACTACCTTATGGGGTCATTCTAAGAGATTAAATGAGGTTCTGCTCATAAAGTGTTTAACTTCATGCCTGACTCTGAGTAAACACTCAATAAATGGTGATTGTTATTATCAGCCAAAGCATATTTGCTTCCTTCCAGCATACTAGCTCTGTTGCCTTTGGTTAAGTTATATAACCTTGCTGTGCCTCAGTTTCCTATCTGCAGCTTGGGAGGAATAACAGTTCTGAACTCAGAGGGTCGTTGTGAGTATTGAACAAGTCAGAACTCAGAACACTGCCTGGTACATAGTAAATGCTCAATAAAGTCACCTATTCATTCATACGATGGTTTTTCCTCTAATTCTCTCAGGTAGGCACGGCCCCCACCAGGCGCCATGGACTGGAAGACACTCCAGGCCCTACTGAGCGGTGTGAACAAGTACTCCACAGCGTTCGGGCGCATCTGGCTGTCCGTGGTGTTCGTCTTCCGGGTGCTGGTATACGTGGTGGCTGCAGAGCGCGTGTGGGGGGATGAGCAGAAGGACTTTGACTGCAACACCAAGCAGCCCGGCTGCACCAACGTCTGCTACGACAACTACTTCCCCATCTCCAACATCCGCCTCTGGGCCCTGCAGCTCATCTTCGTCACATGCCCCTCGCTGCTGGTCATCCTGCACGTGGCCTACCGTGAGGAGCGGGAGCGCCGGCACCGCCAGAAACACGGGGACCAGTGCGCCAAGCTGTACGACAACGCAGGCAAGAAGCACGGAGGCCTGTGGTGGACCTACCTGTTCAGCCTCATCTTCAAGCTCATCATTGAGTTCCTCTTCCTCTACCTGCTGCACACTCTCTGGCATGGCTTCAATATGCCGCGCCTGGTGCAGTGTGCCAGCGTGGCCCCCTGCCCCAACATCGTGGACTGCTACATTGCCCGACCTACCGAGAAGAAAATCTTCACCTACTTCATGGTGGGCGCCTCCGCCGTCTGCATCGTACTCACCATCTGTGAGCTCTGCTACCTCATCTGCCACAGGGTCCTGCGAGGCCTGCACAAGGACAAGCCTCGAGGGGGTTGCAGCCCCTCGTCCTCCGCCAGCCGAGCTTCCACCTGCCGCTGCCACCACAAGCTGGTGGAGGCTGGGGAGGTGGATCCAGACCCAGGCAATAACAAGCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCACAGGGCAGGGGTGGGGCAACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAGGTGGAGAGGTCCTACAGGGGCTGAGTGACCCCACTCTGAGTTCACTAAGTTATGCAACTTTCGTTTTGGCAGATATTTTTTGACACTGGGAACTGGGCTGTCTAGCCGGGTATAGGTAACCCACAGGCCCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAGGGGCCACTTAGGGCACTGCTAGCAGGGCTTCAACCAGGAAGGGATCAACCCAGGAAGGGATGATCAGGAGAGGCTTCCCTGAGGACATAATGTGTAAGAGAGGTGAGAAGTGCTCCCAAGCAGACACAACAGCAGCACAGAGGTCTGGAGGCCACACAAAAAGTGATGCTCGCCCTGGGCTAGCCTCAGCAGACCTAAGGCATCTCTACTCCCTCCAGAGGAGCCGCCCAGATTCCTGCAGTGGAGAGGAGGTCTTCCAGCAGCAGCAGGTCTGGAGGGCTGAGAATGAACCTGACTAGAGGTTCTGGAGATACCCAGAGGTCCCCCAGGTCATCACTTGGCTCAGTGGAAGCCCTCTTTCCCCAAATCCTACTCCCTCAGCCTCAGGCAGTGGTGCTCCCATCTTCCTCCCCACAACTGTGCTCAGGCTGGTGCCAGCCTTTCAGACCCTGCTCCCAGGGACTTGGGTGGATGCGCTGATAGAACATCCTCAAGACAGTTTCCTTGAAATCAATAAATACTGTGTTTTATACAGGTTGGCTCTGTCTCTGGTTCTCCCACACTCCCACCCACTGACAGAACCCTGAAGGTAGGGAAAGGTAAGCCCTCAGAAAGGGAAAGAGTTCCATGGCTCGGGGTGGAGCTAGGGTGGGGGCTGTGGCTGTGGCTGCAGCTGGGGCTTGAGCTGGAGCTCGGTTAGGCTGGGGCTGATGTTGACAGCCGGGAGCTGGGTTTGTACCAGAGGAGGAGGCTGGGGTGGAACCTACTGATACATATGTTGGGATTCTAGCTGTGGCCACAAGAGTGCGCTGTGCTCCCTCTGCAACGGTGCTTCCAGCCTTCGTAATTAGACTTCACCCTGAGTACACACACAATCACTGCCACTCTCACTATAGACAAACCACACTCCCTCCTCTGTCACCCAGTCACTGCCATCTCAACACACATCCCCACCCTGTGTACACACAATCTCTGTTATTCATACTCTCACTCCTTATGCGCACTCTCAACAGGGCATGTAGTCTGCACTCAAGCATGCCATCCCAGCCTCACCCTGCATTTTATTCGGCTCATCCCATTTTCCCTGAACATTTTCGCTGAACTAGGGCCCTGGCAGGATGCTGGGACTGTGCAAGGAGGTAGGACCTATGCCCACGGAGCTAAGAGACAGGAACACAGGCTCATCTCCCGCACTAACCAACCCCTGGGATGGCTCACAGCCCTGCTCCCAGTGCTGTGTCATGACCTGAAATTTAGGGGACACCAACACCCAAGGCCAGACCCAAATGGAAAGCAAAAGAGGATGCAAGGCTATATTAACCCAGTGGAACACTTAGTGACTATCACAGCCGAGGCCGGGAGTCAGAAATTCAGGAGCCAGTGAGCCAAGCGCCACAGCCAGCAAAGACAGGTGGGGTCATCACGGAAACAGAACAGCCAGTGGTTCACCTGTGCTCTCACAAGTAGCCATTTG
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Task1_train_659
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This genomic variant is located on Chromosome 1, within the GJA4 (gap junction protein alpha 4) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Skin hemangioma
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CCCCACACCACCCAGCCACCATTTAGAGGCATAAGAACGGGGTCCAAGCTAAAGGTCAGGTGGTTCCCCCACCCCCAGTCTCAAGGAGTCCATGGGAATTGCTTAATGGCCTCTGATTGTGTAGCCTGCCCAGACATGGGGATGTTTGAGAATTCTGGAAGAACGTGGGCTGGGCGTGGATAGAGACGCCTGCTCCACCATGTATGCTGGAGGTGTGGATTACAACCCCTGTCCCCCATTGGAGCTTCCCGCGCCGTAATTAGCCTTGATCGCCTCATCCTGGCACACTAGGGCCAGCCACCTAGCAAATGAGTGGTCCCCACACTCCATCCCCATCCGCCCACCCCTCACAGCCCCGCAGGCCAGTTGCCCAGATCCACAGCCCTTACTGCAACCCCTTCAAATCCAGCCACCCTGAGAGATCCTGGCCTGGGAGAACTCTCCTTCCCTGGCCAAAGAAACGACAGGAGAGTTTACTGTCTGGAATACCTGGTGGAGAGAGAACAGAGGAGAGGAAGGGTAGGTCAGCCCCTCTTGCCCCTCCCCACCGCAAATCACACAGGCCCACCTCCCCGGAGTGGGTTTAGGGAGTCTGCACCTCCCAGTCCCCGCCCCCGCCCTCTCTCCAGCGCCCGCCGCCCTCCCCGTCGCGTTTCCTGCCCCCACCCCGCCCCTCTGCGCTATTTAAGGCGCCCCCGCCGCTCGTGCGGTCCAGCAGGGCTCCCGCGGGCGTCACTCCGGCCATCGTCCCCACCTCCACCTGGGCCGCCCGGCAGGCAGGCGGTGAGTCGGGGGCTAGGAAGGGACCAGGGGCGCCACCTGCTCGCGGGAGGCCGGGAGGAGTCTTGGGTCCTCCGATGCCGGGACGGGGGTTGCTGCGGAACGCCCGCCGCGACAGAGCCGCGCTCACCCAGGTGGCCTTGGCCAGGCTCCCACCCTCTTTCCATGGAATCCTTGTAACAACCCGAGGCGGGAGGAATACTATTGTTTCCACTCTATCGTGGAGGAGACTGAGGGGCCCAGAGGTTGTTCCTTATCCAAGGGGCCGCAGTTACTAAAAGGCAAGATTTGAACCCAGGGCCGCTTCCAGAGCCTGGCTCTAAACAGCTTTGCACTTGGGAAGAGGCACCTCCCCCTTGGGAACTTTGTGGCCTGTGCCTCACCCTGCAATGACAATTCCTTTCAAGAGTCTAGAATTTGCCAGCATCAGCTTTGGAGGTGGAAGGGGGTGGGAGTGGAGGTGGAGGAAGAAGACAGGACCAAATGTCCCTCCTCAAGTGGCAGGTGGTCATTATTGCTGACCGGTGGAGCTAAAGGATGATGCTGCCTTCAGCTCCTAAAACCCCTTCCACTACCCAGCCCCTGCAGGCTCAAAGATTAGAGTGAAGCCAGCTGGGTAAGATATGAGGCGGGGAGCAGGGACCTGAGGCTTTGAGCCCCCTAAGAAGCAGAAGATAACACCTCTACCATCATCACTAGCTCCCACTGTCTGGGGGTAGCCAGCCTTGGGCAAAAGGGAGGAAGGGCTTAGCCCAGCTGCACAACTTTGGATAAGTTCCTCAAATTCTGTTCCCATAGGCAAAGGAGCCTCAACTCCACCCAGATTTCCTTGGCCTGTGTCCATCCTGGGGCAGTGGCTCGGGGACAAGAGGGACATAGATGTCTGATTAGGCAGGGACCTTAGCCAAAGCAGAATGAGACCATACAAAGAGGTGGGCAGCCATCATCCAAAAATCTGGGTTGGGTCCTGCCTGCACTGCTGAGTGGGAGCCTCCAGGCCAGTCCTTCCCCTTCCTGAGCCTGGGTTTCTTTGTAGGTAGAACGGGCGTGGCAGACCTCCCTGCAGGCTTGTTGCTGGGCGAACGAGAAGGATGCCATGCTGACACACTGACGTGCTCTGTCTCCTTGCAGACGGAGGCCCGGGAGCCATGGGTGACTGGGGCTTCCTGGAGAAGTTGCTGGACCAGGTCCAGGAGCACTCGACCGTGGTGGGTAAGATCTGGCTGACGGTGCTCTTCATCTTCCGCATCCTCATCCTGGGCCTGGCCGGCGAGTCAGTGTGGGGTGACGAGCAATCAGATTTCGAGTGTAACACGGCCCAGCCAGGCTGCACCAACGTCTGCTATGACCAGGCCTTCCCCATCTCCCACATCCGCTACTGGGTGCTGCAGTTCCTCTTCGTCAGCACACCCACCCTGGTCTACCTGGGCCATGTCATTTACCTGTCTCGGCGAGAAGAGCGGCTGCGGCAGAAGGAGGGGGAGCTGCGGGCACTGCCGGCCAAGGACCCACAGGTGGAGCGGGCGCTGGCGGCCGTAGAGCGTCAGATGGCCAAGATCTCGGTGGCAGAAGATGGTCGCCTGCGCATCCGCGGAGCACTGATGGGCACCTATGTCGCCAGTGTGCTCTGCAAGAGTGTGCTAGAGGCAGGCTTCCTCTATGGCCAGTGGCGCCTGTACGGCTGGACCATGGAGCCCGTGTTTGTGTGCCAGCGAGCACCCTGCCCCTACCTCGTGGACTGCTTTGTCTCTCGCCCCACGGAGAAGACCATCTTCATCATCTTCATGTTGGTGGTTGGACTCATCTCCCTGGTGCTTAACCTGCTGGAGTTGGTGCACCTGCTGTGTCGCTGCCTCAGCCGGGGGATGAGGGCACGGCAAGGCCAAGACGCACCCCCGACCCAGGGCACCTCCTCAGACCCTTACACGGACCAGGTCTTCTTCTACCTCCCCGTGGGCCAGGGGCCCTCATCCCCACCATGCCCCACCTACAATGGGCTCTCATCCAGTGAGCAGAACTGGGCCAACCTGACCACAGAGGAGAGGCTGGCGTCTTCCAGGCCCCCTCTCTTCCTGGACCCACCCCCTCAGAATGGCCAAAAACCCCCAAGTCGTCCCAGCAGCTCTGCTTCTAAGAAGCAGTATGTATAGAGGCCTGTGGCTTATGTCACCCAACAGAGGGGTCCTGAGAAGTCTGGCTGCCTGGGATGCCCCCTGCCCCCTCCTGGAAGGCTCTGCAGAGATGACTGGGCTGGGGAAGCAGGTGCTTGCTGGCCATGGAGCCTCATTGCAAGTTGTTCTTGAACACCTGAGGCCTTCCTGGTGCCCACCAGGCACTACGGCTTCCTCTCCAGAATGTGGCTTTGCCTGAGCACAGACAGAGTCAGCATGGAATGCTCTTGGCCAAGGGTACTGGGGGCCCTCTGGCCTTTTGCAGCTGATCCAGAGGAACCCAGAGCCAACTTACCCCAACCTCACCCTATGGAACAGTCACCTGTGCGCAGGTTGTCCTCAAACCCTCTCCTCACAGGAAAAGGCGGATTGAGGCTGCTGGGTCAGCCTTGATCGCACAGACAGAGCTTGTGCCGGATTTGGCCCTGTCAAGGGGACTGGTGCCTTGTTTTCATCACTCCTTCCTAGTTCTACTGTTCAAGCTTCTGAAATAAACAGGACTTGATCACAAGTAGGTGTGTATTGATGCTATCATGATGTGCTGGGGGTTGGGGGATAGAGTTATTTTGCCCAGGCTTCCTTTACTTCTTGGTCCTGTATAATCTCTTTGGTCTCTATAACCCCCGATTCCAGCCAACACCTTGAACCCTCAAACTCATACCTTCTGCCTCCAACAGCCCTGATTTCTAAATGCTCTGCCTTTTGAAATGCCTCAGACACTATCTTCTTTTCATCCCCACTGCTCCAGCGCATTAATCAGTGGTCAAAGCATAAACGTCCTTGCCCTCCCTCCCCCATGCCCATCGTCGCCCTGGCCACACTGCCCCCTGCAAAGTGCTTCCTTACTGGATGGTTTGCTCTCCAAGCGTGCCTGCCAGCCAAGCCCTTCGCAGTCCAGTTCAGATGGGCCCTGCACTCATCCCACCTCATCCTCATCCTTGGTATTTGGGAAGGGAGGTTTAGGTCACTAGTCCTTCCTACCTTGGCCCTTTCTAGTCTGCCCACCAGGAGAAGCAACTGAAGGATTTGCTTCATATCTGCTCTCCATGCACCCAGACCTCAGTGAGGACAATGGCAATGTACAGAAGTGGAAGAGACTGAATCTTGCCAATGAGCCACAAAGGCTGCAGAAACAAAATGAACAA
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CCCCACACCACCCAGCCACCATTTAGAGGCATAAGAACGGGGTCCAAGCTAAAGGTCAGGTGGTTCCCCCACCCCCAGTCTCAAGGAGTCCATGGGAATTGCTTAATGGCCTCTGATTGTGTAGCCTGCCCAGACATGGGGATGTTTGAGAATTCTGGAAGAACGTGGGCTGGGCGTGGATAGAGACGCCTGCTCCACCATGTATGCTGGAGGTGTGGATTACAACCCCTGTCCCCCATTGGAGCTTCCCGCGCCGTAATTAGCCTTGATCGCCTCATCCTGGCACACTAGGGCCAGCCACCTAGCAAATGAGTGGTCCCCACACTCCATCCCCATCCGCCCACCCCTCACAGCCCCGCAGGCCAGTTGCCCAGATCCACAGCCCTTACTGCAACCCCTTCAAATCCAGCCACCCTGAGAGATCCTGGCCTGGGAGAACTCTCCTTCCCTGGCCAAAGAAACGACAGGAGAGTTTACTGTCTGGAATACCTGGTGGAGAGAGAACAGAGGAGAGGAAGGGTAGGTCAGCCCCTCTTGCCCCTCCCCACCGCAAATCACACAGGCCCACCTCCCCGGAGTGGGTTTAGGGAGTCTGCACCTCCCAGTCCCCGCCCCCGCCCTCTCTCCAGCGCCCGCCGCCCTCCCCGTCGCGTTTCCTGCCCCCACCCCGCCCCTCTGCGCTATTTAAGGCGCCCCCGCCGCTCGTGCGGTCCAGCAGGGCTCCCGCGGGCGTCACTCCGGCCATCGTCCCCACCTCCACCTGGGCCGCCCGGCAGGCAGGCGGTGAGTCGGGGGCTAGGAAGGGACCAGGGGCGCCACCTGCTCGCGGGAGGCCGGGAGGAGTCTTGGGTCCTCCGATGCCGGGACGGGGGTTGCTGCGGAACGCCCGCCGCGACAGAGCCGCGCTCACCCAGGTGGCCTTGGCCAGGCTCCCACCCTCTTTCCATGGAATCCTTGTAACAACCCGAGGCGGGAGGAATACTATTGTTTCCACTCTATCGTGGAGGAGACTGAGGGGCCCAGAGGTTGTTCCTTATCCAAGGGGCCGCAGTTACTAAAAGGCAAGATTTGAACCCAGGGCCGCTTCCAGAGCCTGGCTCTAAACAGCTTTGCACTTGGGAAGAGGCACCTCCCCCTTGGGAACTTTGTGGCCTGTGCCTCACCCTGCAATGACAATTCCTTTCAAGAGTCTAGAATTTGCCAGCATCAGCTTTGGAGGTGGAAGGGGGTGGGAGTGGAGGTGGAGGAAGAAGACAGGACCAAATGTCCCTCCTCAAGTGGCAGGTGGTCATTATTGCTGACCGGTGGAGCTAAAGGATGATGCTGCCTTCAGCTCCTAAAACCCCTTCCACTACCCAGCCCCTGCAGGCTCAAAGATTAGAGTGAAGCCAGCTGGGTAAGATATGAGGCGGGGAGCAGGGACCTGAGGCTTTGAGCCCCCTAAGAAGCAGAAGATAACACCTCTACCATCATCACTAGCTCCCACTGTCTGGGGGTAGCCAGCCTTGGGCAAAAGGGAGGAAGGGCTTAGCCCAGCTGCACAACTTTGGATAAGTTCCTCAAATTCTGTTCCCATAGGCAAAGGAGCCTCAACTCCACCCAGATTTCCTTGGCCTGTGTCCATCCTGGGGCAGTGGCTCGGGGACAAGAGGGACATAGATGTCTGATTAGGCAGGGACCTTAGCCAAAGCAGAATGAGACCATACAAAGAGGTGGGCAGCCATCATCCAAAAATCTGGGTTGGGTCCTGCCTGCACTGCTGAGTGGGAGCCTCCAGGCCAGTCCTTCCCCTTCCTGAGCCTGGGTTTCTTTGTAGGTAGAACGGGCGTGGCAGACCTCCCTGCAGGCTTGTTGCTGGGCGAACGAGAAGGATGCCATGCTGACACACTGACGTGCTCTGTCTCCTTGCAGACGGAGGCCCGGGAGCCATGGGTGACTGGGGCTTCCTGGAGAAGTTGCTGGACCAGGTCCAGGAGCACTCGACCGTGGTGGGTAAGATCTGGCTGACGGTGCTCTTCATCTTCCGCATCCTCATCCTGGGCCTGGCCTGCGAGTCAGTGTGGGGTGACGAGCAATCAGATTTCGAGTGTAACACGGCCCAGCCAGGCTGCACCAACGTCTGCTATGACCAGGCCTTCCCCATCTCCCACATCCGCTACTGGGTGCTGCAGTTCCTCTTCGTCAGCACACCCACCCTGGTCTACCTGGGCCATGTCATTTACCTGTCTCGGCGAGAAGAGCGGCTGCGGCAGAAGGAGGGGGAGCTGCGGGCACTGCCGGCCAAGGACCCACAGGTGGAGCGGGCGCTGGCGGCCGTAGAGCGTCAGATGGCCAAGATCTCGGTGGCAGAAGATGGTCGCCTGCGCATCCGCGGAGCACTGATGGGCACCTATGTCGCCAGTGTGCTCTGCAAGAGTGTGCTAGAGGCAGGCTTCCTCTATGGCCAGTGGCGCCTGTACGGCTGGACCATGGAGCCCGTGTTTGTGTGCCAGCGAGCACCCTGCCCCTACCTCGTGGACTGCTTTGTCTCTCGCCCCACGGAGAAGACCATCTTCATCATCTTCATGTTGGTGGTTGGACTCATCTCCCTGGTGCTTAACCTGCTGGAGTTGGTGCACCTGCTGTGTCGCTGCCTCAGCCGGGGGATGAGGGCACGGCAAGGCCAAGACGCACCCCCGACCCAGGGCACCTCCTCAGACCCTTACACGGACCAGGTCTTCTTCTACCTCCCCGTGGGCCAGGGGCCCTCATCCCCACCATGCCCCACCTACAATGGGCTCTCATCCAGTGAGCAGAACTGGGCCAACCTGACCACAGAGGAGAGGCTGGCGTCTTCCAGGCCCCCTCTCTTCCTGGACCCACCCCCTCAGAATGGCCAAAAACCCCCAAGTCGTCCCAGCAGCTCTGCTTCTAAGAAGCAGTATGTATAGAGGCCTGTGGCTTATGTCACCCAACAGAGGGGTCCTGAGAAGTCTGGCTGCCTGGGATGCCCCCTGCCCCCTCCTGGAAGGCTCTGCAGAGATGACTGGGCTGGGGAAGCAGGTGCTTGCTGGCCATGGAGCCTCATTGCAAGTTGTTCTTGAACACCTGAGGCCTTCCTGGTGCCCACCAGGCACTACGGCTTCCTCTCCAGAATGTGGCTTTGCCTGAGCACAGACAGAGTCAGCATGGAATGCTCTTGGCCAAGGGTACTGGGGGCCCTCTGGCCTTTTGCAGCTGATCCAGAGGAACCCAGAGCCAACTTACCCCAACCTCACCCTATGGAACAGTCACCTGTGCGCAGGTTGTCCTCAAACCCTCTCCTCACAGGAAAAGGCGGATTGAGGCTGCTGGGTCAGCCTTGATCGCACAGACAGAGCTTGTGCCGGATTTGGCCCTGTCAAGGGGACTGGTGCCTTGTTTTCATCACTCCTTCCTAGTTCTACTGTTCAAGCTTCTGAAATAAACAGGACTTGATCACAAGTAGGTGTGTATTGATGCTATCATGATGTGCTGGGGGTTGGGGGATAGAGTTATTTTGCCCAGGCTTCCTTTACTTCTTGGTCCTGTATAATCTCTTTGGTCTCTATAACCCCCGATTCCAGCCAACACCTTGAACCCTCAAACTCATACCTTCTGCCTCCAACAGCCCTGATTTCTAAATGCTCTGCCTTTTGAAATGCCTCAGACACTATCTTCTTTTCATCCCCACTGCTCCAGCGCATTAATCAGTGGTCAAAGCATAAACGTCCTTGCCCTCCCTCCCCCATGCCCATCGTCGCCCTGGCCACACTGCCCCCTGCAAAGTGCTTCCTTACTGGATGGTTTGCTCTCCAAGCGTGCCTGCCAGCCAAGCCCTTCGCAGTCCAGTTCAGATGGGCCCTGCACTCATCCCACCTCATCCTCATCCTTGGTATTTGGGAAGGGAGGTTTAGGTCACTAGTCCTTCCTACCTTGGCCCTTTCTAGTCTGCCCACCAGGAGAAGCAACTGAAGGATTTGCTTCATATCTGCTCTCCATGCACCCAGACCTCAGTGAGGACAATGGCAATGTACAGAAGTGGAAGAGACTGAATCTTGCCAATGAGCCACAAAGGCTGCAGAAACAAAATGAACAA
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Task1_train_660
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The gene GJA4 (gap junction protein alpha 4) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Cutaneous venous malformation
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CCCCACACCACCCAGCCACCATTTAGAGGCATAAGAACGGGGTCCAAGCTAAAGGTCAGGTGGTTCCCCCACCCCCAGTCTCAAGGAGTCCATGGGAATTGCTTAATGGCCTCTGATTGTGTAGCCTGCCCAGACATGGGGATGTTTGAGAATTCTGGAAGAACGTGGGCTGGGCGTGGATAGAGACGCCTGCTCCACCATGTATGCTGGAGGTGTGGATTACAACCCCTGTCCCCCATTGGAGCTTCCCGCGCCGTAATTAGCCTTGATCGCCTCATCCTGGCACACTAGGGCCAGCCACCTAGCAAATGAGTGGTCCCCACACTCCATCCCCATCCGCCCACCCCTCACAGCCCCGCAGGCCAGTTGCCCAGATCCACAGCCCTTACTGCAACCCCTTCAAATCCAGCCACCCTGAGAGATCCTGGCCTGGGAGAACTCTCCTTCCCTGGCCAAAGAAACGACAGGAGAGTTTACTGTCTGGAATACCTGGTGGAGAGAGAACAGAGGAGAGGAAGGGTAGGTCAGCCCCTCTTGCCCCTCCCCACCGCAAATCACACAGGCCCACCTCCCCGGAGTGGGTTTAGGGAGTCTGCACCTCCCAGTCCCCGCCCCCGCCCTCTCTCCAGCGCCCGCCGCCCTCCCCGTCGCGTTTCCTGCCCCCACCCCGCCCCTCTGCGCTATTTAAGGCGCCCCCGCCGCTCGTGCGGTCCAGCAGGGCTCCCGCGGGCGTCACTCCGGCCATCGTCCCCACCTCCACCTGGGCCGCCCGGCAGGCAGGCGGTGAGTCGGGGGCTAGGAAGGGACCAGGGGCGCCACCTGCTCGCGGGAGGCCGGGAGGAGTCTTGGGTCCTCCGATGCCGGGACGGGGGTTGCTGCGGAACGCCCGCCGCGACAGAGCCGCGCTCACCCAGGTGGCCTTGGCCAGGCTCCCACCCTCTTTCCATGGAATCCTTGTAACAACCCGAGGCGGGAGGAATACTATTGTTTCCACTCTATCGTGGAGGAGACTGAGGGGCCCAGAGGTTGTTCCTTATCCAAGGGGCCGCAGTTACTAAAAGGCAAGATTTGAACCCAGGGCCGCTTCCAGAGCCTGGCTCTAAACAGCTTTGCACTTGGGAAGAGGCACCTCCCCCTTGGGAACTTTGTGGCCTGTGCCTCACCCTGCAATGACAATTCCTTTCAAGAGTCTAGAATTTGCCAGCATCAGCTTTGGAGGTGGAAGGGGGTGGGAGTGGAGGTGGAGGAAGAAGACAGGACCAAATGTCCCTCCTCAAGTGGCAGGTGGTCATTATTGCTGACCGGTGGAGCTAAAGGATGATGCTGCCTTCAGCTCCTAAAACCCCTTCCACTACCCAGCCCCTGCAGGCTCAAAGATTAGAGTGAAGCCAGCTGGGTAAGATATGAGGCGGGGAGCAGGGACCTGAGGCTTTGAGCCCCCTAAGAAGCAGAAGATAACACCTCTACCATCATCACTAGCTCCCACTGTCTGGGGGTAGCCAGCCTTGGGCAAAAGGGAGGAAGGGCTTAGCCCAGCTGCACAACTTTGGATAAGTTCCTCAAATTCTGTTCCCATAGGCAAAGGAGCCTCAACTCCACCCAGATTTCCTTGGCCTGTGTCCATCCTGGGGCAGTGGCTCGGGGACAAGAGGGACATAGATGTCTGATTAGGCAGGGACCTTAGCCAAAGCAGAATGAGACCATACAAAGAGGTGGGCAGCCATCATCCAAAAATCTGGGTTGGGTCCTGCCTGCACTGCTGAGTGGGAGCCTCCAGGCCAGTCCTTCCCCTTCCTGAGCCTGGGTTTCTTTGTAGGTAGAACGGGCGTGGCAGACCTCCCTGCAGGCTTGTTGCTGGGCGAACGAGAAGGATGCCATGCTGACACACTGACGTGCTCTGTCTCCTTGCAGACGGAGGCCCGGGAGCCATGGGTGACTGGGGCTTCCTGGAGAAGTTGCTGGACCAGGTCCAGGAGCACTCGACCGTGGTGGGTAAGATCTGGCTGACGGTGCTCTTCATCTTCCGCATCCTCATCCTGGGCCTGGCCGGCGAGTCAGTGTGGGGTGACGAGCAATCAGATTTCGAGTGTAACACGGCCCAGCCAGGCTGCACCAACGTCTGCTATGACCAGGCCTTCCCCATCTCCCACATCCGCTACTGGGTGCTGCAGTTCCTCTTCGTCAGCACACCCACCCTGGTCTACCTGGGCCATGTCATTTACCTGTCTCGGCGAGAAGAGCGGCTGCGGCAGAAGGAGGGGGAGCTGCGGGCACTGCCGGCCAAGGACCCACAGGTGGAGCGGGCGCTGGCGGCCGTAGAGCGTCAGATGGCCAAGATCTCGGTGGCAGAAGATGGTCGCCTGCGCATCCGCGGAGCACTGATGGGCACCTATGTCGCCAGTGTGCTCTGCAAGAGTGTGCTAGAGGCAGGCTTCCTCTATGGCCAGTGGCGCCTGTACGGCTGGACCATGGAGCCCGTGTTTGTGTGCCAGCGAGCACCCTGCCCCTACCTCGTGGACTGCTTTGTCTCTCGCCCCACGGAGAAGACCATCTTCATCATCTTCATGTTGGTGGTTGGACTCATCTCCCTGGTGCTTAACCTGCTGGAGTTGGTGCACCTGCTGTGTCGCTGCCTCAGCCGGGGGATGAGGGCACGGCAAGGCCAAGACGCACCCCCGACCCAGGGCACCTCCTCAGACCCTTACACGGACCAGGTCTTCTTCTACCTCCCCGTGGGCCAGGGGCCCTCATCCCCACCATGCCCCACCTACAATGGGCTCTCATCCAGTGAGCAGAACTGGGCCAACCTGACCACAGAGGAGAGGCTGGCGTCTTCCAGGCCCCCTCTCTTCCTGGACCCACCCCCTCAGAATGGCCAAAAACCCCCAAGTCGTCCCAGCAGCTCTGCTTCTAAGAAGCAGTATGTATAGAGGCCTGTGGCTTATGTCACCCAACAGAGGGGTCCTGAGAAGTCTGGCTGCCTGGGATGCCCCCTGCCCCCTCCTGGAAGGCTCTGCAGAGATGACTGGGCTGGGGAAGCAGGTGCTTGCTGGCCATGGAGCCTCATTGCAAGTTGTTCTTGAACACCTGAGGCCTTCCTGGTGCCCACCAGGCACTACGGCTTCCTCTCCAGAATGTGGCTTTGCCTGAGCACAGACAGAGTCAGCATGGAATGCTCTTGGCCAAGGGTACTGGGGGCCCTCTGGCCTTTTGCAGCTGATCCAGAGGAACCCAGAGCCAACTTACCCCAACCTCACCCTATGGAACAGTCACCTGTGCGCAGGTTGTCCTCAAACCCTCTCCTCACAGGAAAAGGCGGATTGAGGCTGCTGGGTCAGCCTTGATCGCACAGACAGAGCTTGTGCCGGATTTGGCCCTGTCAAGGGGACTGGTGCCTTGTTTTCATCACTCCTTCCTAGTTCTACTGTTCAAGCTTCTGAAATAAACAGGACTTGATCACAAGTAGGTGTGTATTGATGCTATCATGATGTGCTGGGGGTTGGGGGATAGAGTTATTTTGCCCAGGCTTCCTTTACTTCTTGGTCCTGTATAATCTCTTTGGTCTCTATAACCCCCGATTCCAGCCAACACCTTGAACCCTCAAACTCATACCTTCTGCCTCCAACAGCCCTGATTTCTAAATGCTCTGCCTTTTGAAATGCCTCAGACACTATCTTCTTTTCATCCCCACTGCTCCAGCGCATTAATCAGTGGTCAAAGCATAAACGTCCTTGCCCTCCCTCCCCCATGCCCATCGTCGCCCTGGCCACACTGCCCCCTGCAAAGTGCTTCCTTACTGGATGGTTTGCTCTCCAAGCGTGCCTGCCAGCCAAGCCCTTCGCAGTCCAGTTCAGATGGGCCCTGCACTCATCCCACCTCATCCTCATCCTTGGTATTTGGGAAGGGAGGTTTAGGTCACTAGTCCTTCCTACCTTGGCCCTTTCTAGTCTGCCCACCAGGAGAAGCAACTGAAGGATTTGCTTCATATCTGCTCTCCATGCACCCAGACCTCAGTGAGGACAATGGCAATGTACAGAAGTGGAAGAGACTGAATCTTGCCAATGAGCCACAAAGGCTGCAGAAACAAAATGAACAA
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CCCCACACCACCCAGCCACCATTTAGAGGCATAAGAACGGGGTCCAAGCTAAAGGTCAGGTGGTTCCCCCACCCCCAGTCTCAAGGAGTCCATGGGAATTGCTTAATGGCCTCTGATTGTGTAGCCTGCCCAGACATGGGGATGTTTGAGAATTCTGGAAGAACGTGGGCTGGGCGTGGATAGAGACGCCTGCTCCACCATGTATGCTGGAGGTGTGGATTACAACCCCTGTCCCCCATTGGAGCTTCCCGCGCCGTAATTAGCCTTGATCGCCTCATCCTGGCACACTAGGGCCAGCCACCTAGCAAATGAGTGGTCCCCACACTCCATCCCCATCCGCCCACCCCTCACAGCCCCGCAGGCCAGTTGCCCAGATCCACAGCCCTTACTGCAACCCCTTCAAATCCAGCCACCCTGAGAGATCCTGGCCTGGGAGAACTCTCCTTCCCTGGCCAAAGAAACGACAGGAGAGTTTACTGTCTGGAATACCTGGTGGAGAGAGAACAGAGGAGAGGAAGGGTAGGTCAGCCCCTCTTGCCCCTCCCCACCGCAAATCACACAGGCCCACCTCCCCGGAGTGGGTTTAGGGAGTCTGCACCTCCCAGTCCCCGCCCCCGCCCTCTCTCCAGCGCCCGCCGCCCTCCCCGTCGCGTTTCCTGCCCCCACCCCGCCCCTCTGCGCTATTTAAGGCGCCCCCGCCGCTCGTGCGGTCCAGCAGGGCTCCCGCGGGCGTCACTCCGGCCATCGTCCCCACCTCCACCTGGGCCGCCCGGCAGGCAGGCGGTGAGTCGGGGGCTAGGAAGGGACCAGGGGCGCCACCTGCTCGCGGGAGGCCGGGAGGAGTCTTGGGTCCTCCGATGCCGGGACGGGGGTTGCTGCGGAACGCCCGCCGCGACAGAGCCGCGCTCACCCAGGTGGCCTTGGCCAGGCTCCCACCCTCTTTCCATGGAATCCTTGTAACAACCCGAGGCGGGAGGAATACTATTGTTTCCACTCTATCGTGGAGGAGACTGAGGGGCCCAGAGGTTGTTCCTTATCCAAGGGGCCGCAGTTACTAAAAGGCAAGATTTGAACCCAGGGCCGCTTCCAGAGCCTGGCTCTAAACAGCTTTGCACTTGGGAAGAGGCACCTCCCCCTTGGGAACTTTGTGGCCTGTGCCTCACCCTGCAATGACAATTCCTTTCAAGAGTCTAGAATTTGCCAGCATCAGCTTTGGAGGTGGAAGGGGGTGGGAGTGGAGGTGGAGGAAGAAGACAGGACCAAATGTCCCTCCTCAAGTGGCAGGTGGTCATTATTGCTGACCGGTGGAGCTAAAGGATGATGCTGCCTTCAGCTCCTAAAACCCCTTCCACTACCCAGCCCCTGCAGGCTCAAAGATTAGAGTGAAGCCAGCTGGGTAAGATATGAGGCGGGGAGCAGGGACCTGAGGCTTTGAGCCCCCTAAGAAGCAGAAGATAACACCTCTACCATCATCACTAGCTCCCACTGTCTGGGGGTAGCCAGCCTTGGGCAAAAGGGAGGAAGGGCTTAGCCCAGCTGCACAACTTTGGATAAGTTCCTCAAATTCTGTTCCCATAGGCAAAGGAGCCTCAACTCCACCCAGATTTCCTTGGCCTGTGTCCATCCTGGGGCAGTGGCTCGGGGACAAGAGGGACATAGATGTCTGATTAGGCAGGGACCTTAGCCAAAGCAGAATGAGACCATACAAAGAGGTGGGCAGCCATCATCCAAAAATCTGGGTTGGGTCCTGCCTGCACTGCTGAGTGGGAGCCTCCAGGCCAGTCCTTCCCCTTCCTGAGCCTGGGTTTCTTTGTAGGTAGAACGGGCGTGGCAGACCTCCCTGCAGGCTTGTTGCTGGGCGAACGAGAAGGATGCCATGCTGACACACTGACGTGCTCTGTCTCCTTGCAGACGGAGGCCCGGGAGCCATGGGTGACTGGGGCTTCCTGGAGAAGTTGCTGGACCAGGTCCAGGAGCACTCGACCGTGGTGGGTAAGATCTGGCTGACGGTGCTCTTCATCTTCCGCATCCTCATCCTGGGCCTGGCCTGCGAGTCAGTGTGGGGTGACGAGCAATCAGATTTCGAGTGTAACACGGCCCAGCCAGGCTGCACCAACGTCTGCTATGACCAGGCCTTCCCCATCTCCCACATCCGCTACTGGGTGCTGCAGTTCCTCTTCGTCAGCACACCCACCCTGGTCTACCTGGGCCATGTCATTTACCTGTCTCGGCGAGAAGAGCGGCTGCGGCAGAAGGAGGGGGAGCTGCGGGCACTGCCGGCCAAGGACCCACAGGTGGAGCGGGCGCTGGCGGCCGTAGAGCGTCAGATGGCCAAGATCTCGGTGGCAGAAGATGGTCGCCTGCGCATCCGCGGAGCACTGATGGGCACCTATGTCGCCAGTGTGCTCTGCAAGAGTGTGCTAGAGGCAGGCTTCCTCTATGGCCAGTGGCGCCTGTACGGCTGGACCATGGAGCCCGTGTTTGTGTGCCAGCGAGCACCCTGCCCCTACCTCGTGGACTGCTTTGTCTCTCGCCCCACGGAGAAGACCATCTTCATCATCTTCATGTTGGTGGTTGGACTCATCTCCCTGGTGCTTAACCTGCTGGAGTTGGTGCACCTGCTGTGTCGCTGCCTCAGCCGGGGGATGAGGGCACGGCAAGGCCAAGACGCACCCCCGACCCAGGGCACCTCCTCAGACCCTTACACGGACCAGGTCTTCTTCTACCTCCCCGTGGGCCAGGGGCCCTCATCCCCACCATGCCCCACCTACAATGGGCTCTCATCCAGTGAGCAGAACTGGGCCAACCTGACCACAGAGGAGAGGCTGGCGTCTTCCAGGCCCCCTCTCTTCCTGGACCCACCCCCTCAGAATGGCCAAAAACCCCCAAGTCGTCCCAGCAGCTCTGCTTCTAAGAAGCAGTATGTATAGAGGCCTGTGGCTTATGTCACCCAACAGAGGGGTCCTGAGAAGTCTGGCTGCCTGGGATGCCCCCTGCCCCCTCCTGGAAGGCTCTGCAGAGATGACTGGGCTGGGGAAGCAGGTGCTTGCTGGCCATGGAGCCTCATTGCAAGTTGTTCTTGAACACCTGAGGCCTTCCTGGTGCCCACCAGGCACTACGGCTTCCTCTCCAGAATGTGGCTTTGCCTGAGCACAGACAGAGTCAGCATGGAATGCTCTTGGCCAAGGGTACTGGGGGCCCTCTGGCCTTTTGCAGCTGATCCAGAGGAACCCAGAGCCAACTTACCCCAACCTCACCCTATGGAACAGTCACCTGTGCGCAGGTTGTCCTCAAACCCTCTCCTCACAGGAAAAGGCGGATTGAGGCTGCTGGGTCAGCCTTGATCGCACAGACAGAGCTTGTGCCGGATTTGGCCCTGTCAAGGGGACTGGTGCCTTGTTTTCATCACTCCTTCCTAGTTCTACTGTTCAAGCTTCTGAAATAAACAGGACTTGATCACAAGTAGGTGTGTATTGATGCTATCATGATGTGCTGGGGGTTGGGGGATAGAGTTATTTTGCCCAGGCTTCCTTTACTTCTTGGTCCTGTATAATCTCTTTGGTCTCTATAACCCCCGATTCCAGCCAACACCTTGAACCCTCAAACTCATACCTTCTGCCTCCAACAGCCCTGATTTCTAAATGCTCTGCCTTTTGAAATGCCTCAGACACTATCTTCTTTTCATCCCCACTGCTCCAGCGCATTAATCAGTGGTCAAAGCATAAACGTCCTTGCCCTCCCTCCCCCATGCCCATCGTCGCCCTGGCCACACTGCCCCCTGCAAAGTGCTTCCTTACTGGATGGTTTGCTCTCCAAGCGTGCCTGCCAGCCAAGCCCTTCGCAGTCCAGTTCAGATGGGCCCTGCACTCATCCCACCTCATCCTCATCCTTGGTATTTGGGAAGGGAGGTTTAGGTCACTAGTCCTTCCTACCTTGGCCCTTTCTAGTCTGCCCACCAGGAGAAGCAACTGAAGGATTTGCTTCATATCTGCTCTCCATGCACCCAGACCTCAGTGAGGACAATGGCAATGTACAGAAGTGGAAGAGACTGAATCTTGCCAATGAGCCACAAAGGCTGCAGAAACAAAATGAACAA
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Task1_train_661
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The gene GJA4 (gap junction protein alpha 4) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Hepatic hemangioma
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CCCCACACCACCCAGCCACCATTTAGAGGCATAAGAACGGGGTCCAAGCTAAAGGTCAGGTGGTTCCCCCACCCCCAGTCTCAAGGAGTCCATGGGAATTGCTTAATGGCCTCTGATTGTGTAGCCTGCCCAGACATGGGGATGTTTGAGAATTCTGGAAGAACGTGGGCTGGGCGTGGATAGAGACGCCTGCTCCACCATGTATGCTGGAGGTGTGGATTACAACCCCTGTCCCCCATTGGAGCTTCCCGCGCCGTAATTAGCCTTGATCGCCTCATCCTGGCACACTAGGGCCAGCCACCTAGCAAATGAGTGGTCCCCACACTCCATCCCCATCCGCCCACCCCTCACAGCCCCGCAGGCCAGTTGCCCAGATCCACAGCCCTTACTGCAACCCCTTCAAATCCAGCCACCCTGAGAGATCCTGGCCTGGGAGAACTCTCCTTCCCTGGCCAAAGAAACGACAGGAGAGTTTACTGTCTGGAATACCTGGTGGAGAGAGAACAGAGGAGAGGAAGGGTAGGTCAGCCCCTCTTGCCCCTCCCCACCGCAAATCACACAGGCCCACCTCCCCGGAGTGGGTTTAGGGAGTCTGCACCTCCCAGTCCCCGCCCCCGCCCTCTCTCCAGCGCCCGCCGCCCTCCCCGTCGCGTTTCCTGCCCCCACCCCGCCCCTCTGCGCTATTTAAGGCGCCCCCGCCGCTCGTGCGGTCCAGCAGGGCTCCCGCGGGCGTCACTCCGGCCATCGTCCCCACCTCCACCTGGGCCGCCCGGCAGGCAGGCGGTGAGTCGGGGGCTAGGAAGGGACCAGGGGCGCCACCTGCTCGCGGGAGGCCGGGAGGAGTCTTGGGTCCTCCGATGCCGGGACGGGGGTTGCTGCGGAACGCCCGCCGCGACAGAGCCGCGCTCACCCAGGTGGCCTTGGCCAGGCTCCCACCCTCTTTCCATGGAATCCTTGTAACAACCCGAGGCGGGAGGAATACTATTGTTTCCACTCTATCGTGGAGGAGACTGAGGGGCCCAGAGGTTGTTCCTTATCCAAGGGGCCGCAGTTACTAAAAGGCAAGATTTGAACCCAGGGCCGCTTCCAGAGCCTGGCTCTAAACAGCTTTGCACTTGGGAAGAGGCACCTCCCCCTTGGGAACTTTGTGGCCTGTGCCTCACCCTGCAATGACAATTCCTTTCAAGAGTCTAGAATTTGCCAGCATCAGCTTTGGAGGTGGAAGGGGGTGGGAGTGGAGGTGGAGGAAGAAGACAGGACCAAATGTCCCTCCTCAAGTGGCAGGTGGTCATTATTGCTGACCGGTGGAGCTAAAGGATGATGCTGCCTTCAGCTCCTAAAACCCCTTCCACTACCCAGCCCCTGCAGGCTCAAAGATTAGAGTGAAGCCAGCTGGGTAAGATATGAGGCGGGGAGCAGGGACCTGAGGCTTTGAGCCCCCTAAGAAGCAGAAGATAACACCTCTACCATCATCACTAGCTCCCACTGTCTGGGGGTAGCCAGCCTTGGGCAAAAGGGAGGAAGGGCTTAGCCCAGCTGCACAACTTTGGATAAGTTCCTCAAATTCTGTTCCCATAGGCAAAGGAGCCTCAACTCCACCCAGATTTCCTTGGCCTGTGTCCATCCTGGGGCAGTGGCTCGGGGACAAGAGGGACATAGATGTCTGATTAGGCAGGGACCTTAGCCAAAGCAGAATGAGACCATACAAAGAGGTGGGCAGCCATCATCCAAAAATCTGGGTTGGGTCCTGCCTGCACTGCTGAGTGGGAGCCTCCAGGCCAGTCCTTCCCCTTCCTGAGCCTGGGTTTCTTTGTAGGTAGAACGGGCGTGGCAGACCTCCCTGCAGGCTTGTTGCTGGGCGAACGAGAAGGATGCCATGCTGACACACTGACGTGCTCTGTCTCCTTGCAGACGGAGGCCCGGGAGCCATGGGTGACTGGGGCTTCCTGGAGAAGTTGCTGGACCAGGTCCAGGAGCACTCGACCGTGGTGGGTAAGATCTGGCTGACGGTGCTCTTCATCTTCCGCATCCTCATCCTGGGCCTGGCCGGCGAGTCAGTGTGGGGTGACGAGCAATCAGATTTCGAGTGTAACACGGCCCAGCCAGGCTGCACCAACGTCTGCTATGACCAGGCCTTCCCCATCTCCCACATCCGCTACTGGGTGCTGCAGTTCCTCTTCGTCAGCACACCCACCCTGGTCTACCTGGGCCATGTCATTTACCTGTCTCGGCGAGAAGAGCGGCTGCGGCAGAAGGAGGGGGAGCTGCGGGCACTGCCGGCCAAGGACCCACAGGTGGAGCGGGCGCTGGCGGCCGTAGAGCGTCAGATGGCCAAGATCTCGGTGGCAGAAGATGGTCGCCTGCGCATCCGCGGAGCACTGATGGGCACCTATGTCGCCAGTGTGCTCTGCAAGAGTGTGCTAGAGGCAGGCTTCCTCTATGGCCAGTGGCGCCTGTACGGCTGGACCATGGAGCCCGTGTTTGTGTGCCAGCGAGCACCCTGCCCCTACCTCGTGGACTGCTTTGTCTCTCGCCCCACGGAGAAGACCATCTTCATCATCTTCATGTTGGTGGTTGGACTCATCTCCCTGGTGCTTAACCTGCTGGAGTTGGTGCACCTGCTGTGTCGCTGCCTCAGCCGGGGGATGAGGGCACGGCAAGGCCAAGACGCACCCCCGACCCAGGGCACCTCCTCAGACCCTTACACGGACCAGGTCTTCTTCTACCTCCCCGTGGGCCAGGGGCCCTCATCCCCACCATGCCCCACCTACAATGGGCTCTCATCCAGTGAGCAGAACTGGGCCAACCTGACCACAGAGGAGAGGCTGGCGTCTTCCAGGCCCCCTCTCTTCCTGGACCCACCCCCTCAGAATGGCCAAAAACCCCCAAGTCGTCCCAGCAGCTCTGCTTCTAAGAAGCAGTATGTATAGAGGCCTGTGGCTTATGTCACCCAACAGAGGGGTCCTGAGAAGTCTGGCTGCCTGGGATGCCCCCTGCCCCCTCCTGGAAGGCTCTGCAGAGATGACTGGGCTGGGGAAGCAGGTGCTTGCTGGCCATGGAGCCTCATTGCAAGTTGTTCTTGAACACCTGAGGCCTTCCTGGTGCCCACCAGGCACTACGGCTTCCTCTCCAGAATGTGGCTTTGCCTGAGCACAGACAGAGTCAGCATGGAATGCTCTTGGCCAAGGGTACTGGGGGCCCTCTGGCCTTTTGCAGCTGATCCAGAGGAACCCAGAGCCAACTTACCCCAACCTCACCCTATGGAACAGTCACCTGTGCGCAGGTTGTCCTCAAACCCTCTCCTCACAGGAAAAGGCGGATTGAGGCTGCTGGGTCAGCCTTGATCGCACAGACAGAGCTTGTGCCGGATTTGGCCCTGTCAAGGGGACTGGTGCCTTGTTTTCATCACTCCTTCCTAGTTCTACTGTTCAAGCTTCTGAAATAAACAGGACTTGATCACAAGTAGGTGTGTATTGATGCTATCATGATGTGCTGGGGGTTGGGGGATAGAGTTATTTTGCCCAGGCTTCCTTTACTTCTTGGTCCTGTATAATCTCTTTGGTCTCTATAACCCCCGATTCCAGCCAACACCTTGAACCCTCAAACTCATACCTTCTGCCTCCAACAGCCCTGATTTCTAAATGCTCTGCCTTTTGAAATGCCTCAGACACTATCTTCTTTTCATCCCCACTGCTCCAGCGCATTAATCAGTGGTCAAAGCATAAACGTCCTTGCCCTCCCTCCCCCATGCCCATCGTCGCCCTGGCCACACTGCCCCCTGCAAAGTGCTTCCTTACTGGATGGTTTGCTCTCCAAGCGTGCCTGCCAGCCAAGCCCTTCGCAGTCCAGTTCAGATGGGCCCTGCACTCATCCCACCTCATCCTCATCCTTGGTATTTGGGAAGGGAGGTTTAGGTCACTAGTCCTTCCTACCTTGGCCCTTTCTAGTCTGCCCACCAGGAGAAGCAACTGAAGGATTTGCTTCATATCTGCTCTCCATGCACCCAGACCTCAGTGAGGACAATGGCAATGTACAGAAGTGGAAGAGACTGAATCTTGCCAATGAGCCACAAAGGCTGCAGAAACAAAATGAACAA
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CCCCACACCACCCAGCCACCATTTAGAGGCATAAGAACGGGGTCCAAGCTAAAGGTCAGGTGGTTCCCCCACCCCCAGTCTCAAGGAGTCCATGGGAATTGCTTAATGGCCTCTGATTGTGTAGCCTGCCCAGACATGGGGATGTTTGAGAATTCTGGAAGAACGTGGGCTGGGCGTGGATAGAGACGCCTGCTCCACCATGTATGCTGGAGGTGTGGATTACAACCCCTGTCCCCCATTGGAGCTTCCCGCGCCGTAATTAGCCTTGATCGCCTCATCCTGGCACACTAGGGCCAGCCACCTAGCAAATGAGTGGTCCCCACACTCCATCCCCATCCGCCCACCCCTCACAGCCCCGCAGGCCAGTTGCCCAGATCCACAGCCCTTACTGCAACCCCTTCAAATCCAGCCACCCTGAGAGATCCTGGCCTGGGAGAACTCTCCTTCCCTGGCCAAAGAAACGACAGGAGAGTTTACTGTCTGGAATACCTGGTGGAGAGAGAACAGAGGAGAGGAAGGGTAGGTCAGCCCCTCTTGCCCCTCCCCACCGCAAATCACACAGGCCCACCTCCCCGGAGTGGGTTTAGGGAGTCTGCACCTCCCAGTCCCCGCCCCCGCCCTCTCTCCAGCGCCCGCCGCCCTCCCCGTCGCGTTTCCTGCCCCCACCCCGCCCCTCTGCGCTATTTAAGGCGCCCCCGCCGCTCGTGCGGTCCAGCAGGGCTCCCGCGGGCGTCACTCCGGCCATCGTCCCCACCTCCACCTGGGCCGCCCGGCAGGCAGGCGGTGAGTCGGGGGCTAGGAAGGGACCAGGGGCGCCACCTGCTCGCGGGAGGCCGGGAGGAGTCTTGGGTCCTCCGATGCCGGGACGGGGGTTGCTGCGGAACGCCCGCCGCGACAGAGCCGCGCTCACCCAGGTGGCCTTGGCCAGGCTCCCACCCTCTTTCCATGGAATCCTTGTAACAACCCGAGGCGGGAGGAATACTATTGTTTCCACTCTATCGTGGAGGAGACTGAGGGGCCCAGAGGTTGTTCCTTATCCAAGGGGCCGCAGTTACTAAAAGGCAAGATTTGAACCCAGGGCCGCTTCCAGAGCCTGGCTCTAAACAGCTTTGCACTTGGGAAGAGGCACCTCCCCCTTGGGAACTTTGTGGCCTGTGCCTCACCCTGCAATGACAATTCCTTTCAAGAGTCTAGAATTTGCCAGCATCAGCTTTGGAGGTGGAAGGGGGTGGGAGTGGAGGTGGAGGAAGAAGACAGGACCAAATGTCCCTCCTCAAGTGGCAGGTGGTCATTATTGCTGACCGGTGGAGCTAAAGGATGATGCTGCCTTCAGCTCCTAAAACCCCTTCCACTACCCAGCCCCTGCAGGCTCAAAGATTAGAGTGAAGCCAGCTGGGTAAGATATGAGGCGGGGAGCAGGGACCTGAGGCTTTGAGCCCCCTAAGAAGCAGAAGATAACACCTCTACCATCATCACTAGCTCCCACTGTCTGGGGGTAGCCAGCCTTGGGCAAAAGGGAGGAAGGGCTTAGCCCAGCTGCACAACTTTGGATAAGTTCCTCAAATTCTGTTCCCATAGGCAAAGGAGCCTCAACTCCACCCAGATTTCCTTGGCCTGTGTCCATCCTGGGGCAGTGGCTCGGGGACAAGAGGGACATAGATGTCTGATTAGGCAGGGACCTTAGCCAAAGCAGAATGAGACCATACAAAGAGGTGGGCAGCCATCATCCAAAAATCTGGGTTGGGTCCTGCCTGCACTGCTGAGTGGGAGCCTCCAGGCCAGTCCTTCCCCTTCCTGAGCCTGGGTTTCTTTGTAGGTAGAACGGGCGTGGCAGACCTCCCTGCAGGCTTGTTGCTGGGCGAACGAGAAGGATGCCATGCTGACACACTGACGTGCTCTGTCTCCTTGCAGACGGAGGCCCGGGAGCCATGGGTGACTGGGGCTTCCTGGAGAAGTTGCTGGACCAGGTCCAGGAGCACTCGACCGTGGTGGGTAAGATCTGGCTGACGGTGCTCTTCATCTTCCGCATCCTCATCCTGGGCCTGGCCTGCGAGTCAGTGTGGGGTGACGAGCAATCAGATTTCGAGTGTAACACGGCCCAGCCAGGCTGCACCAACGTCTGCTATGACCAGGCCTTCCCCATCTCCCACATCCGCTACTGGGTGCTGCAGTTCCTCTTCGTCAGCACACCCACCCTGGTCTACCTGGGCCATGTCATTTACCTGTCTCGGCGAGAAGAGCGGCTGCGGCAGAAGGAGGGGGAGCTGCGGGCACTGCCGGCCAAGGACCCACAGGTGGAGCGGGCGCTGGCGGCCGTAGAGCGTCAGATGGCCAAGATCTCGGTGGCAGAAGATGGTCGCCTGCGCATCCGCGGAGCACTGATGGGCACCTATGTCGCCAGTGTGCTCTGCAAGAGTGTGCTAGAGGCAGGCTTCCTCTATGGCCAGTGGCGCCTGTACGGCTGGACCATGGAGCCCGTGTTTGTGTGCCAGCGAGCACCCTGCCCCTACCTCGTGGACTGCTTTGTCTCTCGCCCCACGGAGAAGACCATCTTCATCATCTTCATGTTGGTGGTTGGACTCATCTCCCTGGTGCTTAACCTGCTGGAGTTGGTGCACCTGCTGTGTCGCTGCCTCAGCCGGGGGATGAGGGCACGGCAAGGCCAAGACGCACCCCCGACCCAGGGCACCTCCTCAGACCCTTACACGGACCAGGTCTTCTTCTACCTCCCCGTGGGCCAGGGGCCCTCATCCCCACCATGCCCCACCTACAATGGGCTCTCATCCAGTGAGCAGAACTGGGCCAACCTGACCACAGAGGAGAGGCTGGCGTCTTCCAGGCCCCCTCTCTTCCTGGACCCACCCCCTCAGAATGGCCAAAAACCCCCAAGTCGTCCCAGCAGCTCTGCTTCTAAGAAGCAGTATGTATAGAGGCCTGTGGCTTATGTCACCCAACAGAGGGGTCCTGAGAAGTCTGGCTGCCTGGGATGCCCCCTGCCCCCTCCTGGAAGGCTCTGCAGAGATGACTGGGCTGGGGAAGCAGGTGCTTGCTGGCCATGGAGCCTCATTGCAAGTTGTTCTTGAACACCTGAGGCCTTCCTGGTGCCCACCAGGCACTACGGCTTCCTCTCCAGAATGTGGCTTTGCCTGAGCACAGACAGAGTCAGCATGGAATGCTCTTGGCCAAGGGTACTGGGGGCCCTCTGGCCTTTTGCAGCTGATCCAGAGGAACCCAGAGCCAACTTACCCCAACCTCACCCTATGGAACAGTCACCTGTGCGCAGGTTGTCCTCAAACCCTCTCCTCACAGGAAAAGGCGGATTGAGGCTGCTGGGTCAGCCTTGATCGCACAGACAGAGCTTGTGCCGGATTTGGCCCTGTCAAGGGGACTGGTGCCTTGTTTTCATCACTCCTTCCTAGTTCTACTGTTCAAGCTTCTGAAATAAACAGGACTTGATCACAAGTAGGTGTGTATTGATGCTATCATGATGTGCTGGGGGTTGGGGGATAGAGTTATTTTGCCCAGGCTTCCTTTACTTCTTGGTCCTGTATAATCTCTTTGGTCTCTATAACCCCCGATTCCAGCCAACACCTTGAACCCTCAAACTCATACCTTCTGCCTCCAACAGCCCTGATTTCTAAATGCTCTGCCTTTTGAAATGCCTCAGACACTATCTTCTTTTCATCCCCACTGCTCCAGCGCATTAATCAGTGGTCAAAGCATAAACGTCCTTGCCCTCCCTCCCCCATGCCCATCGTCGCCCTGGCCACACTGCCCCCTGCAAAGTGCTTCCTTACTGGATGGTTTGCTCTCCAAGCGTGCCTGCCAGCCAAGCCCTTCGCAGTCCAGTTCAGATGGGCCCTGCACTCATCCCACCTCATCCTCATCCTTGGTATTTGGGAAGGGAGGTTTAGGTCACTAGTCCTTCCTACCTTGGCCCTTTCTAGTCTGCCCACCAGGAGAAGCAACTGAAGGATTTGCTTCATATCTGCTCTCCATGCACCCAGACCTCAGTGAGGACAATGGCAATGTACAGAAGTGGAAGAGACTGAATCTTGCCAATGAGCCACAAAGGCTGCAGAAACAAAATGAACAA
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Task1_train_662
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Here is a genetic alteration in ADPRS (ADP-ribosylserine hydrolase) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
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GACTTCAGTCGGTTCAACAAGGACCGAGCGGAGGCTGAGATGAAGGCAGCCACAGAGCTGAGGGAGGCCACTGCTCTAACTATTGCTGAGGTGACAGGCCACCCACAGCTAATGGATGGTCCCAGTGTGCGCTCAGCCCTTATCTTCTGTTCCCTGCTGTGCATGTGGCCCCCTGCCCCTCGCTTGAGTAATATCCTCAGGCAGCCCTGAGTGTAGACCCTCCCCTTGCCCTGTGTTTTCTCCTTCAGACCAACAACGAGCTTGAAGCCCAGAGAGTTGCAACGGAATTTGCCTTCAGGAAGCGGCTGCGGGAGATGGAGAAAGTGTACAGTGAGCTCAAGTGGCAAGAGAAGAATGTGAGCATCTCCAGGGGCCTGGACTTCCTGCTGTGGGATGAGAAGCCGCATGCCCCCGCCAGGAGGCACTGGACCAGGCATGCACGTGAGTCCAGCAGGTGGAAACCAGTCACTCTGTCCCCTGCAGACCTTGGAGGAGATCGCTGAGCTGCAGGAGGACATCCGGCACCTGGAGGAGGATCTGCGCACAAAGCTCCTGAGCCTGAAGCTGTCCCATACCCGGCTAGAGGCCAGAACCTACCGGCCCAACGTGGAACTCTGCCGGGACCAGGTGAGAGGGTGTCCCAGTGGCGCACGGGCCCCCTAGCCAAGGTTTTCTCATATTCCTGATGGAGCAAGGGCACTGCTGTCAAGGGGCAGCACTCAGGTAAAGGACAGTGTGGCTGACTTGGAACTCCCAACCCCTCTGCCTCCAGGCACAGTACGGCCTCACCGACGAGGTTCACCAGCTAGAGGCAACCATCGCTGCCCTGAAGCAGAAGCTGGCGCAAGCACAGTAGGTCTCGGGAGTGGGCGGAAGGAGCAGTGAGACGCTGCCCACAAATGGGGCCTCTTGCTGGCTGCTGGCTCCCTGGGGCTGTCTTCCTGACTGAAGGCTATGCACGCAGCCCAGGCCTCCCAGCCTCATGGGGGCTGGGGGGTTGTCAATGTCCTTCCCTAGGGACGCACTGGACGCCCTGTGCAAGCACCTGGCCCGGCTGCAGGCTGACATTGCCTGCAAGGCCAACTCCATGCTGCTGGACACCAAGTGCATGGACACACGGCGCAAGCTGACCGTGCCTGCTGAGAGGTTCGTGCCTGAGGTGGACACCTTCACACGTACCACAAATAGCACCCTGAGTCCACTCAAAAGCTGCCAGCTGGAGCTGGCCTAGCCTTGGAGGACTGCAGGAGGAGGGCAGGGTTGGGTGGGCAATGGAAGGAGGGAGGAGAGAAATGAATGGAATAAATGCAGAGGATCTCAGGCCGGCTGTTCTCTGCCCCACTGTATGTAGCCAGCAGGGAGAGGGTTCTTGAACACCCTCCTGTCTATGGAGGAGCAAAGATGGGGAACACTATTCCTCCGAACTCCATGTACCAAATCCAGTTCTTTCCCTCCCCTCAGGGCACCCCTCTCTGGGCTGGGTCAGCACTCCTGGGCTGCAGCAGCGCGGCCTCTACCTGGCTGTGTCCCAGTTGGCCCCTGGTCCGCCCTCCTGATGCTTAAGGGAGGCCCACAGGGGGCAAGGGCCCGGTGGGAGGGCTTGGGGGTGGTCCCGGCCTCGGTGGGGAGGGCCGGCTGGGGGTGCGGAGTTAGGGTTGCTCGCCTGCGGAAGGCAGTGTGGGCTGCAGTGATCCAATGGTCTGGCTCAGTGCCCATCCCCCGGAGACCCCATAGTGGCCTTCCCACCCAGTTAGCCCAGTGGTGAGGAGCGGAAAACCGAGACTCAAAGCACAGGCTGGCGGGAAGTGCGCGGCGCCGCGACTCCGGGCCGCTGGGCGGCGCTGTGGGCCTGGCGGCGGAGTGGAAACTCTAGGCCCCAGGGAGCGCTGCGGACGGAAGTAGGGAAACTGTGAGGGCGGCACCGGAAGTGGCGAGCAGTCTGCGCGCGGATGGCCGCAGCGGCGATGGCGGCAGCGGCAGGTGGAGGGGCTGGCGCGGCCCGCTCCCTCTCGCGCTTCCGAGGCTGCCTGGCTGGCGCGCTGCTCGGGGACTGCGTGGGCTCCTTCTACGAGGCCCACGACACCGTCGACCTGACGTCAGTCCTGCGTCATGTCCAGAGTCTGGAGCCGGACCCCGGCACGCCCGGGAGTGAGCGGACAGGTGGGCGGGGCCGGGCGCAAGTCAGAGGCCGTGCGGGAGGGAGGCCGAAGGGGCGCGGAGCCTCCGGGGGCGACGGGTCGGGGGTGCGCGGGGATGAGGCTGCCGAGGGCACCGGGGCCAGAGCCGGATGACCCGCAGACAGCTTGAGCTCAGCGAGTGCCAGTGCGATCTCCGGCCTTATAGACGTCTCGCCCCGAACATCCCGTGCTCGGGGCGTGGCAGCACCGGGGCCTCAACCGTGCAGGGTGTGGATAAACCCATCGTAAGTTGAAAATACCTGAAGTGGAAAGTGCGCTTTCAGCTTAGACGACCGTTTTATCTGGACGCAGCCCCATCGGACGTCGAGGAGCCTATGAATGCGTATCAGCGTTATCAGAAAGCCGAAAAAAACTTAAGTTGAACCATCCTAAGTCGGGGACTGTCTGTCCACCCTTGCCGACTTGACCTCTTTTTCCCGGTTCTCTAGAGTCAGTATACCACCAGCCCGTTCTCCACCCCGCAAGGCGTGCTTTGGAAGCCTGACTCTAATCGCGTCCTCCCCTGCCTAAAACCCTGCTGTGATTTCCCATTACCCTTAGTACAGAGCCACATTCCTTAACGTGTCCGACGTGGTCCGGCCCTCCCACACGTCTGCAGTTTCGTTTTCCGCCAGCCTTGGCCTTGCTTTCTGCTCTTCGGTTCCTCACACCATGATTCCTCTAGGCCAGGCGTTTGCATGCGCTGTCTCGCCTGTAAAACTAACTTCCCTTCCCTTGTGGGCTCAGATCCCGGCTCAGGTAGCAGGTGTGAGGTCAAGCAGAGGAGGTGAATCTTCTTGGAGAGCAGGTAGCATAGTAAGAAGAAAGGGCCATGGTCAGAACCCTGGAGAACACCGGTAATTAAGAGGGAGGGAGGGAGGGAAGGGGATTAGGGAAGGAAACAGTTTGATAGGAGGAGAAGCAGGAGTGGCTATCAACGAAACCTAGGAAAAGAATTTCAAAATGAAGACACTGATCACTGGTGGTGTGCTCCAGAGAAGTGAAGTAGGAGGAGATCTGGATCCAGAAACTATCATTTTCAATCTGGGTATGGTGGCGCACACCTATAATCCCAGCTACTCCAGAGACTGAGGTGGAAGGATCATCGCTTAAGTCCAGGAGTTCGAGACTAGCCTGGGCAACATGGCAAGATCCTGTCTATAAAAAAGAAAAACAAAACAAAAACAAAAAGACTGGAGCTGCAAGGATGGCAGCCACAAGGGGATGGAAGTTTTCTTTCAGAAATCAGAAGATCAAACCATGATGTAGGCTCATAATAAATAAATACATAAAATAGAAAGCAGCAGGACTGACTTGGAATAAAGAATTGCTGAAAATCCCATTGCTGAGATCCTAAGGCTTCCCAGGCCCACGAAAGTGAATGGGAGTGAGAAACTGATTTGAGGTCATTTTAGATGTGGTAACTCTGAAACATGAGTAGAGGCTGGGTGCCGTAGCCACAACTGTAATCCCAGCGCTTTGGGAGAGTCCACTTGAGCCCAAGAGTTTGAGACCAGCCTGGCAACAGGATGAAACTCCATCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAGCCAGGCGCAGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGGGGCAAGAGGCTCCTTGAGCCTGGGAGGTCGAGATGGAGTGAGCCATGGTCGTACCACTGCACTGCAGCTTAGGCAACAGAGTGAGACCCTGTACCAAAAAAATAATAATATAAACTAAAATAAAAGGTGAGCAGGGCCAGGCACAGTGGCTCAGGCCTATAATCCCAGCTCTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGAATTCAAGACCAGTCTGGACAACAGAGTGAGACCCTGTCTCTACAAAAAAATAAAAGTAGCTGGGTGTGATGATGCATGCCTATAGTC
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GACTTCAGTCGGTTCAACAAGGACCGAGCGGAGGCTGAGATGAAGGCAGCCACAGAGCTGAGGGAGGCCACTGCTCTAACTATTGCTGAGGTGACAGGCCACCCACAGCTAATGGATGGTCCCAGTGTGCGCTCAGCCCTTATCTTCTGTTCCCTGCTGTGCATGTGGCCCCCTGCCCCTCGCTTGAGTAATATCCTCAGGCAGCCCTGAGTGTAGACCCTCCCCTTGCCCTGTGTTTTCTCCTTCAGACCAACAACGAGCTTGAAGCCCAGAGAGTTGCAACGGAATTTGCCTTCAGGAAGCGGCTGCGGGAGATGGAGAAAGTGTACAGTGAGCTCAAGTGGCAAGAGAAGAATGTGAGCATCTCCAGGGGCCTGGACTTCCTGCTGTGGGATGAGAAGCCGCATGCCCCCGCCAGGAGGCACTGGACCAGGCATGCACGTGAGTCCAGCAGGTGGAAACCAGTCACTCTGTCCCCTGCAGACCTTGGAGGAGATCGCTGAGCTGCAGGAGGACATCCGGCACCTGGAGGAGGATCTGCGCACAAAGCTCCTGAGCCTGAAGCTGTCCCATACCCGGCTAGAGGCCAGAACCTACCGGCCCAACGTGGAACTCTGCCGGGACCAGGTGAGAGGGTGTCCCAGTGGCGCACGGGCCCCCTAGCCAAGGTTTTCTCATATTCCTGATGGAGCAAGGGCACTGCTGTCAAGGGGCAGCACTCAGGTAAAGGACAGTGTGGCTGACTTGGAACTCCCAACCCCTCTGCCTCCAGGCACAGTACGGCCTCACCGACGAGGTTCACCAGCTAGAGGCAACCATCGCTGCCCTGAAGCAGAAGCTGGCGCAAGCACAGTAGGTCTCGGGAGTGGGCGGAAGGAGCAGTGAGACGCTGCCCACAAATGGGGCCTCTTGCTGGCTGCTGGCTCCCTGGGGCTGTCTTCCTGACTGAAGGCTATGCACGCAGCCCAGGCCTCCCAGCCTCATGGGGGCTGGGGGGTTGTCAATGTCCTTCCCTAGGGACGCACTGGACGCCCTGTGCAAGCACCTGGCCCGGCTGCAGGCTGACATTGCCTGCAAGGCCAACTCCATGCTGCTGGACACCAAGTGCATGGACACACGGCGCAAGCTGACCGTGCCTGCTGAGAGGTTCGTGCCTGAGGTGGACACCTTCACACGTACCACAAATAGCACCCTGAGTCCACTCAAAAGCTGCCAGCTGGAGCTGGCCTAGCCTTGGAGGACTGCAGGAGGAGGGCAGGGTTGGGTGGGCAATGGAAGGAGGGAGGAGAGAAATGAATGGAATAAATGCAGAGGATCTCAGGCCGGCTGTTCTCTGCCCCACTGTATGTAGCCAGCAGGGAGAGGGTTCTTGAACACCCTCCTGTCTATGGAGGAGCAAAGATGGGGAACACTATTCCTCCGAACTCCATGTACCAAATCCAGTTCTTTCCCTCCCCTCAGGGCACCCCTCTCTGGGCTGGGTCAGCACTCCTGGGCTGCAGCAGCGCGGCCTCTACCTGGCTGTGTCCCAGTTGGCCCCTGGTCCGCCCTCCTGATGCTTAAGGGAGGCCCACAGGGGGCAAGGGCCCGGTGGGAGGGCTTGGGGGTGGTCCCGGCCTCGGTGGGGAGGGCCGGCTGGGGGTGCGGAGTTAGGGTTGCTCGCCTGCGGAAGGCAGTGTGGGCTGCAGTGATCCAATGGTCTGGCTCAGTGCCCATCCCCCGGAGACCCCATAGTGGCCTTCCCACCCAGTTAGCCCAGTGGTGAGGAGCGGAAAACCGAGACTCAAAGCACAGGCTGGCGGGAAGTGCGCGGCGCCGCGACTCCGGGCCGCTGGGCGGCGCTGTGGGCCTGGCGGCGGAGTGGAAACTCTAGGCCCCAGGGAGCGCTGCGGACGGAAGTAGGGAAACTGTGAGGGCGGCACCGGAAGTGGCGAGCAGTCTGCGCGCGGATGGCCGCAGCGGCGATGGCGGCAGCGGCAGGTGGAGGGGCTGGCGCGGCCCGCTCCCTCTCGCGCTTCCGAGGCTGCCTGGCTGGCGCGCTGCTCGGGAACTGCGTGGGCTCCTTCTACGAGGCCCACGACACCGTCGACCTGACGTCAGTCCTGCGTCATGTCCAGAGTCTGGAGCCGGACCCCGGCACGCCCGGGAGTGAGCGGACAGGTGGGCGGGGCCGGGCGCAAGTCAGAGGCCGTGCGGGAGGGAGGCCGAAGGGGCGCGGAGCCTCCGGGGGCGACGGGTCGGGGGTGCGCGGGGATGAGGCTGCCGAGGGCACCGGGGCCAGAGCCGGATGACCCGCAGACAGCTTGAGCTCAGCGAGTGCCAGTGCGATCTCCGGCCTTATAGACGTCTCGCCCCGAACATCCCGTGCTCGGGGCGTGGCAGCACCGGGGCCTCAACCGTGCAGGGTGTGGATAAACCCATCGTAAGTTGAAAATACCTGAAGTGGAAAGTGCGCTTTCAGCTTAGACGACCGTTTTATCTGGACGCAGCCCCATCGGACGTCGAGGAGCCTATGAATGCGTATCAGCGTTATCAGAAAGCCGAAAAAAACTTAAGTTGAACCATCCTAAGTCGGGGACTGTCTGTCCACCCTTGCCGACTTGACCTCTTTTTCCCGGTTCTCTAGAGTCAGTATACCACCAGCCCGTTCTCCACCCCGCAAGGCGTGCTTTGGAAGCCTGACTCTAATCGCGTCCTCCCCTGCCTAAAACCCTGCTGTGATTTCCCATTACCCTTAGTACAGAGCCACATTCCTTAACGTGTCCGACGTGGTCCGGCCCTCCCACACGTCTGCAGTTTCGTTTTCCGCCAGCCTTGGCCTTGCTTTCTGCTCTTCGGTTCCTCACACCATGATTCCTCTAGGCCAGGCGTTTGCATGCGCTGTCTCGCCTGTAAAACTAACTTCCCTTCCCTTGTGGGCTCAGATCCCGGCTCAGGTAGCAGGTGTGAGGTCAAGCAGAGGAGGTGAATCTTCTTGGAGAGCAGGTAGCATAGTAAGAAGAAAGGGCCATGGTCAGAACCCTGGAGAACACCGGTAATTAAGAGGGAGGGAGGGAGGGAAGGGGATTAGGGAAGGAAACAGTTTGATAGGAGGAGAAGCAGGAGTGGCTATCAACGAAACCTAGGAAAAGAATTTCAAAATGAAGACACTGATCACTGGTGGTGTGCTCCAGAGAAGTGAAGTAGGAGGAGATCTGGATCCAGAAACTATCATTTTCAATCTGGGTATGGTGGCGCACACCTATAATCCCAGCTACTCCAGAGACTGAGGTGGAAGGATCATCGCTTAAGTCCAGGAGTTCGAGACTAGCCTGGGCAACATGGCAAGATCCTGTCTATAAAAAAGAAAAACAAAACAAAAACAAAAAGACTGGAGCTGCAAGGATGGCAGCCACAAGGGGATGGAAGTTTTCTTTCAGAAATCAGAAGATCAAACCATGATGTAGGCTCATAATAAATAAATACATAAAATAGAAAGCAGCAGGACTGACTTGGAATAAAGAATTGCTGAAAATCCCATTGCTGAGATCCTAAGGCTTCCCAGGCCCACGAAAGTGAATGGGAGTGAGAAACTGATTTGAGGTCATTTTAGATGTGGTAACTCTGAAACATGAGTAGAGGCTGGGTGCCGTAGCCACAACTGTAATCCCAGCGCTTTGGGAGAGTCCACTTGAGCCCAAGAGTTTGAGACCAGCCTGGCAACAGGATGAAACTCCATCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAGCCAGGCGCAGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGGGGCAAGAGGCTCCTTGAGCCTGGGAGGTCGAGATGGAGTGAGCCATGGTCGTACCACTGCACTGCAGCTTAGGCAACAGAGTGAGACCCTGTACCAAAAAAATAATAATATAAACTAAAATAAAAGGTGAGCAGGGCCAGGCACAGTGGCTCAGGCCTATAATCCCAGCTCTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGAATTCAAGACCAGTCTGGACAACAGAGTGAGACCCTGTCTCTACAAAAAAATAAAAGTAGCTGGGTGTGATGATGCATGCCTATAGTC
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Task1_train_663
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The gene ADPRS (ADP-ribosylserine hydrolase) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
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CGAGGGCACCGGGGCCAGAGCCGGATGACCCGCAGACAGCTTGAGCTCAGCGAGTGCCAGTGCGATCTCCGGCCTTATAGACGTCTCGCCCCGAACATCCCGTGCTCGGGGCGTGGCAGCACCGGGGCCTCAACCGTGCAGGGTGTGGATAAACCCATCGTAAGTTGAAAATACCTGAAGTGGAAAGTGCGCTTTCAGCTTAGACGACCGTTTTATCTGGACGCAGCCCCATCGGACGTCGAGGAGCCTATGAATGCGTATCAGCGTTATCAGAAAGCCGAAAAAAACTTAAGTTGAACCATCCTAAGTCGGGGACTGTCTGTCCACCCTTGCCGACTTGACCTCTTTTTCCCGGTTCTCTAGAGTCAGTATACCACCAGCCCGTTCTCCACCCCGCAAGGCGTGCTTTGGAAGCCTGACTCTAATCGCGTCCTCCCCTGCCTAAAACCCTGCTGTGATTTCCCATTACCCTTAGTACAGAGCCACATTCCTTAACGTGTCCGACGTGGTCCGGCCCTCCCACACGTCTGCAGTTTCGTTTTCCGCCAGCCTTGGCCTTGCTTTCTGCTCTTCGGTTCCTCACACCATGATTCCTCTAGGCCAGGCGTTTGCATGCGCTGTCTCGCCTGTAAAACTAACTTCCCTTCCCTTGTGGGCTCAGATCCCGGCTCAGGTAGCAGGTGTGAGGTCAAGCAGAGGAGGTGAATCTTCTTGGAGAGCAGGTAGCATAGTAAGAAGAAAGGGCCATGGTCAGAACCCTGGAGAACACCGGTAATTAAGAGGGAGGGAGGGAGGGAAGGGGATTAGGGAAGGAAACAGTTTGATAGGAGGAGAAGCAGGAGTGGCTATCAACGAAACCTAGGAAAAGAATTTCAAAATGAAGACACTGATCACTGGTGGTGTGCTCCAGAGAAGTGAAGTAGGAGGAGATCTGGATCCAGAAACTATCATTTTCAATCTGGGTATGGTGGCGCACACCTATAATCCCAGCTACTCCAGAGACTGAGGTGGAAGGATCATCGCTTAAGTCCAGGAGTTCGAGACTAGCCTGGGCAACATGGCAAGATCCTGTCTATAAAAAAGAAAAACAAAACAAAAACAAAAAGACTGGAGCTGCAAGGATGGCAGCCACAAGGGGATGGAAGTTTTCTTTCAGAAATCAGAAGATCAAACCATGATGTAGGCTCATAATAAATAAATACATAAAATAGAAAGCAGCAGGACTGACTTGGAATAAAGAATTGCTGAAAATCCCATTGCTGAGATCCTAAGGCTTCCCAGGCCCACGAAAGTGAATGGGAGTGAGAAACTGATTTGAGGTCATTTTAGATGTGGTAACTCTGAAACATGAGTAGAGGCTGGGTGCCGTAGCCACAACTGTAATCCCAGCGCTTTGGGAGAGTCCACTTGAGCCCAAGAGTTTGAGACCAGCCTGGCAACAGGATGAAACTCCATCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAGCCAGGCGCAGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGGGGCAAGAGGCTCCTTGAGCCTGGGAGGTCGAGATGGAGTGAGCCATGGTCGTACCACTGCACTGCAGCTTAGGCAACAGAGTGAGACCCTGTACCAAAAAAATAATAATATAAACTAAAATAAAAGGTGAGCAGGGCCAGGCACAGTGGCTCAGGCCTATAATCCCAGCTCTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGAATTCAAGACCAGTCTGGACAACAGAGTGAGACCCTGTCTCTACAAAAAAATAAAAGTAGCTGGGTGTGATGATGCATGCCTATAGTCCCAGCTACTTGAGAGGCTGAGGCAGAAGGATAGCTTGAGCCCAGGAGTTCAAGACTGCAGTGAGCCATGATTGCACCAGTGCACTCCAGTCTGGGCAACAGAGCGAGACTCTGTCTCCAAAAAAAGCAAAAAACAACAACAAAAAAAACAAAGGTGAGCAGGAGGCTCTCATCCTCCCTCCTCTCCCCACAGAAGCCTTGTACTACACAGATGACACAGCCATGGCCAGGGCCCTGGTGCAGTCCCTGCTAGCCAAGGAGGCCTTTGACGAGGTGGACATGGCTCACAGGTGAGGGGGATGGTCCTGGGCTGAGGCAAACCAGGTGGGAAAGTTATTGCACCCCTTGACCAGAGGAATGACATTTGTGCATGTCCACGCCCCCAACCCTCCACAGAAGCCTGTGTCAGGCTGGCACAGCTTCCCAAGCTAAAACAGCAGCACTGCTGGTGCAGGCTCCTTAGGCCCCCGAGGCTTTCTCTTTTTCCAAACTAGCCTCGATTTCTTCTCTCCCAACCCTTAGAGGCATCTTGTAAATCTGAATTCTGTCTCCCCTTCTGTTCCCTAGATTTGCTCAGGAGTACAAGAAAGACCCTGACAGGGGCTATGGTGCTGGAGTAGTCACTGTCTTCAAGAAGCTCCTGAACCCCAAATGTCGCGATGTCTTTGAGCCTGCCCGGGCCCAGTTTAACGGGAAAGGCTCCTATGGCAATGGAGGTGCCATGCGGGTGGCTGGCATCTCCCTGGCCTATAGCAGTGTCCAGGATGTGCAGAAGGTATTCAGGGCGGGCTGGCTTCTGGGCTGTCCCCTTCCTCTTCTGCAGCAGGGCTTCTGTGACAGCAGGTCTCCTCCTCCCTAGTTTGCCCGGCTCTCGGCCCAGCTGACACACGCCTCCTCCCTGGGTTACAATGGCGCCATCCTGCAGGCCCTGGCTGTGCACCTGGCCTTGCAGGGCGAGTCTTCCAGCGAGCACTTTCTCAAGCAACTCCTGGGCCACATGGAGGATCTGGAGGGTGATGCCCAGTCCGTCTTGGATGCCAGGGAGTGAGTATGGGGCTGGAGGTGTGTGGTGTGGGTATGTGGGTGATCCAGGGGGCCTCTGGCATTGCCGCAAACTGTAAACCTTCCTCAATTGCAGACCCTAGGGAGGCATGGGCAGAAGCCCCTTTATCTTGTCTATGTTTCAAGGCTCTCAGGGTCCCAGAGAACGAAACGACCTGCTCACCCCAGCCCTCTCCCACCTCTTGTCGGCACCTGTGCCTGGCTGCCAGCCTGACCACATCCCTGCTCGTTCTCACATGCAGCCCTCTCCCCTGCCCGCGCCACCACCCTGCTAGCTCTGACCTCCCTGAAATCTCCCCTAAACCACAGGTTGGGCATGGAGGAGCGTCCATACTCCAGCCGCCTGAAGAAGATTGGAGAGCTTCTAGACCAGGCATCGGTGACCAGGGAGGAAGTGGTGTCTGAGCTAGGTGAGTGGGTCTGCCTGGGATTGTCTCTCCCTCTGTCGTCCTTCAGGGTCGGTCTTGGGCTCAGGGGAGCATGGAGTCATGCCTGCCGTCGCATTGTACCCTGGGCTGCTGTGACACGGAGTCAATGGCAGGGTTGAGCTCAGCGCTTCTTGCTCTGAAGCTACAGCACCCTCAGCCTTGTGGACCAGTGTCCCCAGAAATGGCAGCTGGCCACTAGTCGTAAAAATGTTGATAATGGATTTTATTTGTCTAGCATCTATACTGGGCGTTGTGCAGAATGCTTCACAGACACGATCTCGCTTCATCCTCACAACAGCCCTGTCAGAGAGTTGCTAACGTTACTCCCTGTCTGCTTAAGGAGTTGAATCTGGGAGCAGGAAGCTTAGCGGTCCCCTAGGTAACTCTCCCAGTCACGCAGCCAGTGTGTGGTGGAGCCAGGATTTGAGCCCAGGTGGTCTAACTGTAGAGCCTGAGATCTTAGTCACAGCCTGCTTGAAGCCGAGAGTGCTGACTTGTGTCAAATGGTAGGAGGCCTGGGGAAGCATGCAGCCCCTCTAACCTGGCTTCCCCACAGGGAATGGCATTGCTGCCTTTGAGTCGGTACCCACCGCCATCTACTGCTTCCTACGCTGCATGGAGCCAGACCCTGAGATCCCTTCTGCCTTCAATAGCCTCCAAAGGACTCTCATTTATTCCATCTCACTTGGTGGGGACACAGACACCATTGCCACCATGGCTGGGGCCATTGCTGGTGCCTACTATGGGATGGATCAGGTGCCAGAGAGCTGGCAG
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CGAGGGCACCGGGGCCAGAGCCGGATGACCCGCAGACAGCTTGAGCTCAGCGAGTGCCAGTGCGATCTCCGGCCTTATAGACGTCTCGCCCCGAACATCCCGTGCTCGGGGCGTGGCAGCACCGGGGCCTCAACCGTGCAGGGTGTGGATAAACCCATCGTAAGTTGAAAATACCTGAAGTGGAAAGTGCGCTTTCAGCTTAGACGACCGTTTTATCTGGACGCAGCCCCATCGGACGTCGAGGAGCCTATGAATGCGTATCAGCGTTATCAGAAAGCCGAAAAAAACTTAAGTTGAACCATCCTAAGTCGGGGACTGTCTGTCCACCCTTGCCGACTTGACCTCTTTTTCCCGGTTCTCTAGAGTCAGTATACCACCAGCCCGTTCTCCACCCCGCAAGGCGTGCTTTGGAAGCCTGACTCTAATCGCGTCCTCCCCTGCCTAAAACCCTGCTGTGATTTCCCATTACCCTTAGTACAGAGCCACATTCCTTAACGTGTCCGACGTGGTCCGGCCCTCCCACACGTCTGCAGTTTCGTTTTCCGCCAGCCTTGGCCTTGCTTTCTGCTCTTCGGTTCCTCACACCATGATTCCTCTAGGCCAGGCGTTTGCATGCGCTGTCTCGCCTGTAAAACTAACTTCCCTTCCCTTGTGGGCTCAGATCCCGGCTCAGGTAGCAGGTGTGAGGTCAAGCAGAGGAGGTGAATCTTCTTGGAGAGCAGGTAGCATAGTAAGAAGAAAGGGCCATGGTCAGAACCCTGGAGAACACCGGTAATTAAGAGGGAGGGAGGGAGGGAAGGGGATTAGGGAAGGAAACAGTTTGATAGGAGGAGAAGCAGGAGTGGCTATCAACGAAACCTAGGAAAAGAATTTCAAAATGAAGACACTGATCACTGGTGGTGTGCTCCAGAGAAGTGAAGTAGGAGGAGATCTGGATCCAGAAACTATCATTTTCAATCTGGGTATGGTGGCGCACACCTATAATCCCAGCTACTCCAGAGACTGAGGTGGAAGGATCATCGCTTAAGTCCAGGAGTTCGAGACTAGCCTGGGCAACATGGCAAGATCCTGTCTATAAAAAAGAAAAACAAAACAAAAACAAAAAGACTGGAGCTGCAAGGATGGCAGCCACAAGGGGATGGAAGTTTTCTTTCAGAAATCAGAAGATCAAACCATGATGTAGGCTCATAATAAATAAATACATAAAATAGAAAGCAGCAGGACTGACTTGGAATAAAGAATTGCTGAAAATCCCATTGCTGAGATCCTAAGGCTTCCCAGGCCCACGAAAGTGAATGGGAGTGAGAAACTGATTTGAGGTCATTTTAGATGTGGTAACTCTGAAACATGAGTAGAGGCTGGGTGCCGTAGCCACAACTGTAATCCCAGCGCTTTGGGAGAGTCCACTTGAGCCCAAGAGTTTGAGACCAGCCTGGCAACAGGATGAAACTCCATCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAGCCAGGCGCAGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGGGGCAAGAGGCTCCTTGAGCCTGGGAGGTCGAGATGGAGTGAGCCATGGTCGTACCACTGCACTGCAGCTTAGGCAACAGAGTGAGACCCTGTACCAAAAAAATAATAATATAAACTAAAATAAAAGGTGAGCAGGGCCAGGCACAGTGGCTCAGGCCTATAATCCCAGCTCTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGAATTCAAGACCAGTCTGGACAACAGAGTGAGACCCTGTCTCTACAAAAAAATAAAAGTAGCTGGGTGTGATGATGCATGCCTATAGTCCCAGCTACTTGAGAGGCTGAGGCAGAAGGATAGCTTGAGCCCAGGAGTTCAAGACTGCAGTGAGCCATGATTGCACCAGTGCACTCCAGTCTGGGCAACAGAGCGAGACTCTGTCTCCAAAAAAAGCAAAAAACAACAACAAAAAAAACAAAGGTGAGCAGGAGGCTCTCATCCTCCCTCCTCTCCCCACAGAAGCCTTGTACTACACAGATGACCCAGCCATGGCCAGGGCCCTGGTGCAGTCCCTGCTAGCCAAGGAGGCCTTTGACGAGGTGGACATGGCTCACAGGTGAGGGGGATGGTCCTGGGCTGAGGCAAACCAGGTGGGAAAGTTATTGCACCCCTTGACCAGAGGAATGACATTTGTGCATGTCCACGCCCCCAACCCTCCACAGAAGCCTGTGTCAGGCTGGCACAGCTTCCCAAGCTAAAACAGCAGCACTGCTGGTGCAGGCTCCTTAGGCCCCCGAGGCTTTCTCTTTTTCCAAACTAGCCTCGATTTCTTCTCTCCCAACCCTTAGAGGCATCTTGTAAATCTGAATTCTGTCTCCCCTTCTGTTCCCTAGATTTGCTCAGGAGTACAAGAAAGACCCTGACAGGGGCTATGGTGCTGGAGTAGTCACTGTCTTCAAGAAGCTCCTGAACCCCAAATGTCGCGATGTCTTTGAGCCTGCCCGGGCCCAGTTTAACGGGAAAGGCTCCTATGGCAATGGAGGTGCCATGCGGGTGGCTGGCATCTCCCTGGCCTATAGCAGTGTCCAGGATGTGCAGAAGGTATTCAGGGCGGGCTGGCTTCTGGGCTGTCCCCTTCCTCTTCTGCAGCAGGGCTTCTGTGACAGCAGGTCTCCTCCTCCCTAGTTTGCCCGGCTCTCGGCCCAGCTGACACACGCCTCCTCCCTGGGTTACAATGGCGCCATCCTGCAGGCCCTGGCTGTGCACCTGGCCTTGCAGGGCGAGTCTTCCAGCGAGCACTTTCTCAAGCAACTCCTGGGCCACATGGAGGATCTGGAGGGTGATGCCCAGTCCGTCTTGGATGCCAGGGAGTGAGTATGGGGCTGGAGGTGTGTGGTGTGGGTATGTGGGTGATCCAGGGGGCCTCTGGCATTGCCGCAAACTGTAAACCTTCCTCAATTGCAGACCCTAGGGAGGCATGGGCAGAAGCCCCTTTATCTTGTCTATGTTTCAAGGCTCTCAGGGTCCCAGAGAACGAAACGACCTGCTCACCCCAGCCCTCTCCCACCTCTTGTCGGCACCTGTGCCTGGCTGCCAGCCTGACCACATCCCTGCTCGTTCTCACATGCAGCCCTCTCCCCTGCCCGCGCCACCACCCTGCTAGCTCTGACCTCCCTGAAATCTCCCCTAAACCACAGGTTGGGCATGGAGGAGCGTCCATACTCCAGCCGCCTGAAGAAGATTGGAGAGCTTCTAGACCAGGCATCGGTGACCAGGGAGGAAGTGGTGTCTGAGCTAGGTGAGTGGGTCTGCCTGGGATTGTCTCTCCCTCTGTCGTCCTTCAGGGTCGGTCTTGGGCTCAGGGGAGCATGGAGTCATGCCTGCCGTCGCATTGTACCCTGGGCTGCTGTGACACGGAGTCAATGGCAGGGTTGAGCTCAGCGCTTCTTGCTCTGAAGCTACAGCACCCTCAGCCTTGTGGACCAGTGTCCCCAGAAATGGCAGCTGGCCACTAGTCGTAAAAATGTTGATAATGGATTTTATTTGTCTAGCATCTATACTGGGCGTTGTGCAGAATGCTTCACAGACACGATCTCGCTTCATCCTCACAACAGCCCTGTCAGAGAGTTGCTAACGTTACTCCCTGTCTGCTTAAGGAGTTGAATCTGGGAGCAGGAAGCTTAGCGGTCCCCTAGGTAACTCTCCCAGTCACGCAGCCAGTGTGTGGTGGAGCCAGGATTTGAGCCCAGGTGGTCTAACTGTAGAGCCTGAGATCTTAGTCACAGCCTGCTTGAAGCCGAGAGTGCTGACTTGTGTCAAATGGTAGGAGGCCTGGGGAAGCATGCAGCCCCTCTAACCTGGCTTCCCCACAGGGAATGGCATTGCTGCCTTTGAGTCGGTACCCACCGCCATCTACTGCTTCCTACGCTGCATGGAGCCAGACCCTGAGATCCCTTCTGCCTTCAATAGCCTCCAAAGGACTCTCATTTATTCCATCTCACTTGGTGGGGACACAGACACCATTGCCACCATGGCTGGGGCCATTGCTGGTGCCTACTATGGGATGGATCAGGTGCCAGAGAGCTGGCAG
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Task1_train_664
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A mutation on Chromosome 1 affecting COL8A2 (collagen type VIII alpha 2 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Posterior polymorphous corneal dystrophy 2
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GGGTTGGGAGGGGCATCCTGCCTGTTTCCTGCAGAGGAGCTCTGATCGGGGAACAGGGCAGAAACGTCCAGAGCCAACTCATTCCCAAGGGACCTGTTGGCACCCTTTCTCTCCCAGCCTTAGCCTCCTGGGCCCTAGTCCTGCTTAGAACAGGAAATTGGAACCAGAGGGTGGAAGGAGAGGAAGCCCCCACAGATGAACCCCTCTTGTACACACATACACCCACCATATGGTTCTTATTAAGGAAAAGGAAGTGGGAGCCGTCTTCATCCCCCAGCTCGCGTGCACCTTGTTCAGAGGGCCAAACGAGAGGTGCTCTGCCTTGGGGATACCTGGCTGGGGTGACAAGGATCCTCTTACAATTTTGTATTGAGAAAACCAGCCCAGCCCGCAGCAGGTGGAAGGGGAGAAAGGGAAGAGTGCTCATGTTTGCTGATGGTCGATTCTGCCTCCGCCACCATCTGCACTAGATACTTCTAGACACTTCACAGAGGTTGATCTTTCTGGCCTGTAGGTGTCCCAGGGGCCTCTGTGCTGCCCTCAAGCTAAACAGCCAGAGCTGGCGGGGGCAGCCCGGGAGAGACAGGGATGAACGTGAAGAGCTGCCTCCTGCCCCAGGTCTGTGCCCCAAGCCCTCACAAACTGCCTTCCCCATGGCTGCCACTGGAGCAGTGAAAGGGAGGTTGCCCTTTCCCAGGGCAACAGGCACTGTGCCCACCACGGACATGTCTGATGCCACAGCATCACCATGGGGGCTGCAGTCCTGGCAGGGTGTCCACACTCGCCACCTCGATGGTCCCCTCTTCTCCCTTCCCCTTGGAGGAAAACCCCACAGTCCTTAGTCCACTGTCATATGCTGGAGGTCCCAGGGGGAGCTGGAGGAGCCCCAGCCAAGGGCTGTGAGGGAGGCCGTGCCCCTTTCCTCCAGCAGGTGCCATCAGGGAGCCAGTGGGAAGGGCTGTCTCCCCACGTGGCGGGGTGGGGAGTTGAGCTCCCTCTCAGCTCCTTCAGGGCCCAGCAGAGGCCAGGACTCACAAGGGGCTGGGCTGTGTGCCTCAGGGCCTATGGGGTGCAGCCCTGACACTGCACAGACATTTGGGGGAAAGAAACTCAGGCCAGCCCCTTCCAGAAACAATCTCAGCCTGCATGCAGGGAGAAAGCAAGTTAGTCTCCTCGGGCCAAGGCCACGGCCGCCTCTGTTCAGCTTTTGTTTTTTTTTCCAGGAGGTTCTTTGTAATTGAAAAGGTCGCTCTACCACTAAAGGGGAGGAGGCCAGGGCAGCAGGACCCCCCCCGCGGGTTATGTGGGGCAGAGCAAGAATCCTGAAAAGGAGGAGTGGATGTACTCCGTGGAGTAGAGGCCGTTGGCCTGGTCCGACGGCATCTGCACCCAGACCTGGTCGTTGGGCCGCAGCTGGAGCACGGCCCCACCAGATGCCTGGTCCAGGTAGCCCTTCTTGTACTCATCGTAGGTATAGGTGGCCGGCACGTTGTTCTTGTACAGGGCCACCCACACGTTGGTGCCCTTGACGTGCACATGGTAAGCAAAGTAGTAGACGCCGCCCACAGGGCAGGTGAAGATGCCAGTGGCTGGGTTGTAGCCGCTGTGGCCATTGTAGAGAGTCCGGTCAAATTTCACGGGCATGCCCGAGGCGGGGAAGGGCGAGGTGAGCACCGCAGTGAAGGCCGGTGTGGCATGGGCAGACAGCTCGCCCAGCCCAAACTGTGGCTTGCCCCCCTTGCCCAGCACGGCACCCTCCACACCGCCGTTGGGCAGGTGCAAGCCTGCGATGCCAGTCTCATCGAAGGCCCCAGGGGCACCAGGGGGTCCCGGGGGCCCGGGAGGCCCCGGAGGGCCCGTGATTCCAGGGGAGCCAGGGACCCCTGGGGGCCCCGTGGGCCCAGCCGTGCCAGGTTCCCCTGCTCTCCCCTCTCCAGGGGGCCCTGGCAGGCCTGGTTCCCCCTTCAGGCCCGGCAGGCCTTGGGGCCCAATAGGGCCAGCTGGACCCTGGAGTCCTGGGATTCCTGAGGGACCCCTCAGGCCAGGCTGCCCAGGGAGCCCCAAGTCACCTTTCTGCCCCAGGGCTCCTGCCACCCCTGGTCCTCCAGGGCGACCCGTGAAACCCGGCTCACCCTTGGGCCCAGTTGGTCCAGGGGGTCCATGGGCCCCAGGAAGTCCCCTCTCACCTGGGACCCCTGGTTTCCCAGCCAGGCCACTAGGCCCCTGGTCACCTCGAATGCCAGGCACTCCTGGGGGTCCTCCAGGCCCTGCCTCACCCTTAGGCCCAGGGGGCCCACGTCTGCCAGGAAGCCCTGCAGACCCAGGAAGTCCAGGGGGACCCCCAAGACCCTGTGGGCCCTGCTCCCCTGGCTCCCCATCCTCCCCTGGCTCACCCCTGTCCCCCAAGAGTCCTGGGACCCCAGCTGGGCCCCTGTCCCCCTTGGGGCCTGGCAGTCCTGGCATCCCATAGCCAGTGGGGCCTATCAGCCCAGGGGGGCCCCGGGTCCCTGGCTCCCCTTTGGCCCCTGATGGGCCCTGTGGTCCTGGCAACCCTGCTGCCCCTGGGACTCCCACACCGTCTACTCCAGGAGGTCCTTTTGGGCCCACAGCTCCTGGCTCCCCCCTGGGGCCTGGAACTCCAGGAGGCCCAGACTCACCCTTGTCTCCTGGGGCCCCAGGAAGCCCATCCAAACCAGGTTTGCCTAAGCCAGCTGGACCAGGGAGGCCGGGGGGGCCGGGGGCACCCCCCTGCCCTGGGGCCCCAGGCAGCCCGGGCTGGCCCACTCCATTATCCCCCTTGAGGCCTCGATCACCTGGGGGCCCAGGCTCCCCCTGGGGCCCTGGTTCCCCCTGGAATCCTGGGGGCCCTGGCACCCCTTGGGCACCTGGTTTTCCAGGGATAGTAATGCCTGAGGGGCCCGGGAGGCCAGGGGGTCCTGGGGGTCCCCGGAGGCCCTGGTCCCCTCGTATTCCTGGCTCCCCCCGAAGCCCCGGCTGCCCTGGTGGCCCGACCTTGCCAGGGAGCCCTGGGGGACCAGCCTTGCCCATCCGGGAGAAGCCAGGGGGCCCAGCAGGGCCAGGCTGCCCATGGAGTCCTGGCTTTCCCATGCCTGGTTTTCCTGGGAAGCCAGGGGGGCCAGGGGGACCCCGAGGCCCGGGCTTCCCAGGGGGGCCGGGCTCTCCCTTCAGGTCCATCGGCAGCAGCGGTAGAGGCATTTCTGAGAAAGAAAGAGAAAGGGGCAGTCAGGGGCCTGAACTGTGGGGACAGGGGACCCCATCTACCCATTCCCCCATTCCAGTATGAGGTACACGGGAGAGGAAGAATGGGGCTGCCCCTTCCTGCTCTCATGGAAGATGGGGTTTGGGGGTGGCCCAGGGGACATCTTGGGGGCAACAGGGTGTCCTCCTTAAGGGCTCCTAACACCCAACCTACCTAGGCTGGGCCTCCTCCATGAGCCTGGCTGATTCTCACCTCTCATCCCTGCATGACCTGAAGGTGGAGTGGCCACCAGGTGGCACCAGCAGCCCACCTTAGAGCCCGTGGGAGCAGAGCCCCACCTCCCAACTTCCCAGTTCATCTCCCCCTTGGAAGACCACCTGTGCCAGCTAACTGCACCGTTTCCAGGCCCTCTGGGGTATTAGGAAAAACACTGAAGGTAGGAAAATTGGTGGGGAATGAGGAGCTGTGGAGGGCGCCTGAGGATCTGATGGCTCTCAGGGAGGCAGGGGATTTGGGGGCTGGGAGCGATTTGAGGCACTGTGGGGTGAGGAGGCTCTCACCCAGGTACTGGCCTTTGCCCTCACGGAAGGGCGGTCCCACAGGTCCTTTCTGCATGGGCTGGATGTACTTCACTGGGGCATAGCCCGCCGCCCCACCGGCCCCGCCACCAGAGGACGCCCGCGGCCCACACCCCAGCACCAGCACCAGTAGCAGCAGCAGCAGCGAAGACAGGGGTGTCAGAGTCCCCAGCATGGCGTCCGTGGACGTGCTGCAAAGAAGAACAGAGAAAGTCATCAAGCCAGCCCTGGGTGGTTTGGCACTAGGCCCGGGGTCACCAAAAGATCAGAATTTAGAGATTACACTGGAGATTTCAGT
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GGGTTGGGAGGGGCATCCTGCCTGTTTCCTGCAGAGGAGCTCTGATCGGGGAACAGGGCAGAAACGTCCAGAGCCAACTCATTCCCAAGGGACCTGTTGGCACCCTTTCTCTCCCAGCCTTAGCCTCCTGGGCCCTAGTCCTGCTTAGAACAGGAAATTGGAACCAGAGGGTGGAAGGAGAGGAAGCCCCCACAGATGAACCCCTCTTGTACACACATACACCCACCATATGGTTCTTATTAAGGAAAAGGAAGTGGGAGCCGTCTTCATCCCCCAGCTCGCGTGCACCTTGTTCAGAGGGCCAAACGAGAGGTGCTCTGCCTTGGGGATACCTGGCTGGGGTGACAAGGATCCTCTTACAATTTTGTATTGAGAAAACCAGCCCAGCCCGCAGCAGGTGGAAGGGGAGAAAGGGAAGAGTGCTCATGTTTGCTGATGGTCGATTCTGCCTCCGCCACCATCTGCACTAGATACTTCTAGACACTTCACAGAGGTTGATCTTTCTGGCCTGTAGGTGTCCCAGGGGCCTCTGTGCTGCCCTCAAGCTAAACAGCCAGAGCTGGCGGGGGCAGCCCGGGAGAGACAGGGATGAACGTGAAGAGCTGCCTCCTGCCCCAGGTCTGTGCCCCAAGCCCTCACAAACTGCCTTCCCCATGGCTGCCACTGGAGCAGTGAAAGGGAGGTTGCCCTTTCCCAGGGCAACAGGCACTGTGCCCACCACGGACATGTCTGATGCCACAGCATCACCATGGGGGCTGCAGTCCTGGCAGGGTGTCCACACTCGCCACCTCGATGGTCCCCTCTTCTCCCTTCCCCTTGGAGGAAAACCCCACAGTCCTTAGTCCACTGTCATATGCTGGAGGTCCCAGGGGGAGCTGGAGGAGCCCCAGCCAAGGGCTGTGAGGGAGGCCGTGCCCCTTTCCTCCAGCAGGTGCCATCAGGGAGCCAGTGGGAAGGGCTGTCTCCCCACGTGGCGGGGTGGGGAGTTGAGCTCCCTCTCAGCTCCTTCAGGGCCCAGCAGAGGCCAGGACTCACAAGGGGCTGGGCTGTGTGCCTCAGGGCCTATGGGGTGCAGCCCTGACACTGCACAGACATTTGGGGGAAAGAAACTCAGGCCAGCCCCTTCCAGAAACAATCTCAGCCTGCATGCAGGGAGAAAGCAAGTTAGTCTCCTCGGGCCAAGGCCACGGCCGCCTCTGTTCAGCTTTTGTTTTTTTTTCCAGGAGGTTCTTTGTAATTGAAAAGGTCGCTCTACCACTAAAGGGGAGGAGGCCAGGGCAGCAGGACCCCCCCCGCGGGTTATGTGGGGCAGAGCAAGAATCCTGAAAAGGAGGAGTGGATGTACTCCGTGGAGTAGAGGCCGTTGGCCTGGTCCGACGGCATCTGCACCCAGACCTGGTCGTTGGGCCGCAGCTGGAGCACGGCCCCACCAGATGCCTGGTCCAGGTAGCCCTTCTTGTACTCATCGTAGGTATAGGTGGCCGGCACGTTGTTCTTGTACAGGGCCACCCACACGTTGGTGCCCTTGACGTGCACATGGTAAGCAAAGTAGTAGACGCCGCCCACAGGGCAGGTGAAGATGCCAGTGGCTGGGTTGTAGCCGCTGTGGCCATTGTAGAGAGTCCGGTCAAATTTCACGGGCATGCCCGAGGCGGGGAAGGGCGAGGTGAGCACCGCAGTGAAGGCCGGTGTGGCATGGGCAGACAGCTCGCCCAGCCCAAACTGTGGCTTGCCCCCCTTGCCCAGCACGGCACCCTCCACACCGCCGTTGGGCAGGTGCAAGCCTGCGATGCCAGTCTCATCGAAGGCCCCAGGGGCACCAGGGGGTCCCGGGGGCCCGGGAGGCCCCGGAGGGCCCGTGATTCCAGGGGAGCCAGGGACCCCTGGGGGCCCCGTGGGCCCAGCCGTGCCAGGTTCCCCTGCTCTCCCCTCTCCAGGGGGCCCTGGCAGGCCTGGTTCCCCCTTCAGGCCCGGCAGGCCTTGGGGCCCAATAGGGCCAGCTGGACCCTGGAGTCCTGGGATTCCTGAGGGACCCCTCAGGCCAGGCTTCCCAGGGAGCCCCAAGTCACCTTTCTGCCCCAGGGCTCCTGCCACCCCTGGTCCTCCAGGGCGACCCGTGAAACCCGGCTCACCCTTGGGCCCAGTTGGTCCAGGGGGTCCATGGGCCCCAGGAAGTCCCCTCTCACCTGGGACCCCTGGTTTCCCAGCCAGGCCACTAGGCCCCTGGTCACCTCGAATGCCAGGCACTCCTGGGGGTCCTCCAGGCCCTGCCTCACCCTTAGGCCCAGGGGGCCCACGTCTGCCAGGAAGCCCTGCAGACCCAGGAAGTCCAGGGGGACCCCCAAGACCCTGTGGGCCCTGCTCCCCTGGCTCCCCATCCTCCCCTGGCTCACCCCTGTCCCCCAAGAGTCCTGGGACCCCAGCTGGGCCCCTGTCCCCCTTGGGGCCTGGCAGTCCTGGCATCCCATAGCCAGTGGGGCCTATCAGCCCAGGGGGGCCCCGGGTCCCTGGCTCCCCTTTGGCCCCTGATGGGCCCTGTGGTCCTGGCAACCCTGCTGCCCCTGGGACTCCCACACCGTCTACTCCAGGAGGTCCTTTTGGGCCCACAGCTCCTGGCTCCCCCCTGGGGCCTGGAACTCCAGGAGGCCCAGACTCACCCTTGTCTCCTGGGGCCCCAGGAAGCCCATCCAAACCAGGTTTGCCTAAGCCAGCTGGACCAGGGAGGCCGGGGGGGCCGGGGGCACCCCCCTGCCCTGGGGCCCCAGGCAGCCCGGGCTGGCCCACTCCATTATCCCCCTTGAGGCCTCGATCACCTGGGGGCCCAGGCTCCCCCTGGGGCCCTGGTTCCCCCTGGAATCCTGGGGGCCCTGGCACCCCTTGGGCACCTGGTTTTCCAGGGATAGTAATGCCTGAGGGGCCCGGGAGGCCAGGGGGTCCTGGGGGTCCCCGGAGGCCCTGGTCCCCTCGTATTCCTGGCTCCCCCCGAAGCCCCGGCTGCCCTGGTGGCCCGACCTTGCCAGGGAGCCCTGGGGGACCAGCCTTGCCCATCCGGGAGAAGCCAGGGGGCCCAGCAGGGCCAGGCTGCCCATGGAGTCCTGGCTTTCCCATGCCTGGTTTTCCTGGGAAGCCAGGGGGGCCAGGGGGACCCCGAGGCCCGGGCTTCCCAGGGGGGCCGGGCTCTCCCTTCAGGTCCATCGGCAGCAGCGGTAGAGGCATTTCTGAGAAAGAAAGAGAAAGGGGCAGTCAGGGGCCTGAACTGTGGGGACAGGGGACCCCATCTACCCATTCCCCCATTCCAGTATGAGGTACACGGGAGAGGAAGAATGGGGCTGCCCCTTCCTGCTCTCATGGAAGATGGGGTTTGGGGGTGGCCCAGGGGACATCTTGGGGGCAACAGGGTGTCCTCCTTAAGGGCTCCTAACACCCAACCTACCTAGGCTGGGCCTCCTCCATGAGCCTGGCTGATTCTCACCTCTCATCCCTGCATGACCTGAAGGTGGAGTGGCCACCAGGTGGCACCAGCAGCCCACCTTAGAGCCCGTGGGAGCAGAGCCCCACCTCCCAACTTCCCAGTTCATCTCCCCCTTGGAAGACCACCTGTGCCAGCTAACTGCACCGTTTCCAGGCCCTCTGGGGTATTAGGAAAAACACTGAAGGTAGGAAAATTGGTGGGGAATGAGGAGCTGTGGAGGGCGCCTGAGGATCTGATGGCTCTCAGGGAGGCAGGGGATTTGGGGGCTGGGAGCGATTTGAGGCACTGTGGGGTGAGGAGGCTCTCACCCAGGTACTGGCCTTTGCCCTCACGGAAGGGCGGTCCCACAGGTCCTTTCTGCATGGGCTGGATGTACTTCACTGGGGCATAGCCCGCCGCCCCACCGGCCCCGCCACCAGAGGACGCCCGCGGCCCACACCCCAGCACCAGCACCAGTAGCAGCAGCAGCAGCGAAGACAGGGGTGTCAGAGTCCCCAGCATGGCGTCCGTGGACGTGCTGCAAAGAAGAACAGAGAAAGTCATCAAGCCAGCCCTGGGTGGTTTGGCACTAGGCCCGGGGTCACCAAAAGATCAGAATTTAGAGATTACACTGGAGATTTCAGT
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Task1_train_665
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Gene COL8A2 (collagen type VIII alpha 2 chain), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Corneal dystrophy, Fuchs endothelial, 1
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GGGTTGGGAGGGGCATCCTGCCTGTTTCCTGCAGAGGAGCTCTGATCGGGGAACAGGGCAGAAACGTCCAGAGCCAACTCATTCCCAAGGGACCTGTTGGCACCCTTTCTCTCCCAGCCTTAGCCTCCTGGGCCCTAGTCCTGCTTAGAACAGGAAATTGGAACCAGAGGGTGGAAGGAGAGGAAGCCCCCACAGATGAACCCCTCTTGTACACACATACACCCACCATATGGTTCTTATTAAGGAAAAGGAAGTGGGAGCCGTCTTCATCCCCCAGCTCGCGTGCACCTTGTTCAGAGGGCCAAACGAGAGGTGCTCTGCCTTGGGGATACCTGGCTGGGGTGACAAGGATCCTCTTACAATTTTGTATTGAGAAAACCAGCCCAGCCCGCAGCAGGTGGAAGGGGAGAAAGGGAAGAGTGCTCATGTTTGCTGATGGTCGATTCTGCCTCCGCCACCATCTGCACTAGATACTTCTAGACACTTCACAGAGGTTGATCTTTCTGGCCTGTAGGTGTCCCAGGGGCCTCTGTGCTGCCCTCAAGCTAAACAGCCAGAGCTGGCGGGGGCAGCCCGGGAGAGACAGGGATGAACGTGAAGAGCTGCCTCCTGCCCCAGGTCTGTGCCCCAAGCCCTCACAAACTGCCTTCCCCATGGCTGCCACTGGAGCAGTGAAAGGGAGGTTGCCCTTTCCCAGGGCAACAGGCACTGTGCCCACCACGGACATGTCTGATGCCACAGCATCACCATGGGGGCTGCAGTCCTGGCAGGGTGTCCACACTCGCCACCTCGATGGTCCCCTCTTCTCCCTTCCCCTTGGAGGAAAACCCCACAGTCCTTAGTCCACTGTCATATGCTGGAGGTCCCAGGGGGAGCTGGAGGAGCCCCAGCCAAGGGCTGTGAGGGAGGCCGTGCCCCTTTCCTCCAGCAGGTGCCATCAGGGAGCCAGTGGGAAGGGCTGTCTCCCCACGTGGCGGGGTGGGGAGTTGAGCTCCCTCTCAGCTCCTTCAGGGCCCAGCAGAGGCCAGGACTCACAAGGGGCTGGGCTGTGTGCCTCAGGGCCTATGGGGTGCAGCCCTGACACTGCACAGACATTTGGGGGAAAGAAACTCAGGCCAGCCCCTTCCAGAAACAATCTCAGCCTGCATGCAGGGAGAAAGCAAGTTAGTCTCCTCGGGCCAAGGCCACGGCCGCCTCTGTTCAGCTTTTGTTTTTTTTTCCAGGAGGTTCTTTGTAATTGAAAAGGTCGCTCTACCACTAAAGGGGAGGAGGCCAGGGCAGCAGGACCCCCCCCGCGGGTTATGTGGGGCAGAGCAAGAATCCTGAAAAGGAGGAGTGGATGTACTCCGTGGAGTAGAGGCCGTTGGCCTGGTCCGACGGCATCTGCACCCAGACCTGGTCGTTGGGCCGCAGCTGGAGCACGGCCCCACCAGATGCCTGGTCCAGGTAGCCCTTCTTGTACTCATCGTAGGTATAGGTGGCCGGCACGTTGTTCTTGTACAGGGCCACCCACACGTTGGTGCCCTTGACGTGCACATGGTAAGCAAAGTAGTAGACGCCGCCCACAGGGCAGGTGAAGATGCCAGTGGCTGGGTTGTAGCCGCTGTGGCCATTGTAGAGAGTCCGGTCAAATTTCACGGGCATGCCCGAGGCGGGGAAGGGCGAGGTGAGCACCGCAGTGAAGGCCGGTGTGGCATGGGCAGACAGCTCGCCCAGCCCAAACTGTGGCTTGCCCCCCTTGCCCAGCACGGCACCCTCCACACCGCCGTTGGGCAGGTGCAAGCCTGCGATGCCAGTCTCATCGAAGGCCCCAGGGGCACCAGGGGGTCCCGGGGGCCCGGGAGGCCCCGGAGGGCCCGTGATTCCAGGGGAGCCAGGGACCCCTGGGGGCCCCGTGGGCCCAGCCGTGCCAGGTTCCCCTGCTCTCCCCTCTCCAGGGGGCCCTGGCAGGCCTGGTTCCCCCTTCAGGCCCGGCAGGCCTTGGGGCCCAATAGGGCCAGCTGGACCCTGGAGTCCTGGGATTCCTGAGGGACCCCTCAGGCCAGGCTGCCCAGGGAGCCCCAAGTCACCTTTCTGCCCCAGGGCTCCTGCCACCCCTGGTCCTCCAGGGCGACCCGTGAAACCCGGCTCACCCTTGGGCCCAGTTGGTCCAGGGGGTCCATGGGCCCCAGGAAGTCCCCTCTCACCTGGGACCCCTGGTTTCCCAGCCAGGCCACTAGGCCCCTGGTCACCTCGAATGCCAGGCACTCCTGGGGGTCCTCCAGGCCCTGCCTCACCCTTAGGCCCAGGGGGCCCACGTCTGCCAGGAAGCCCTGCAGACCCAGGAAGTCCAGGGGGACCCCCAAGACCCTGTGGGCCCTGCTCCCCTGGCTCCCCATCCTCCCCTGGCTCACCCCTGTCCCCCAAGAGTCCTGGGACCCCAGCTGGGCCCCTGTCCCCCTTGGGGCCTGGCAGTCCTGGCATCCCATAGCCAGTGGGGCCTATCAGCCCAGGGGGGCCCCGGGTCCCTGGCTCCCCTTTGGCCCCTGATGGGCCCTGTGGTCCTGGCAACCCTGCTGCCCCTGGGACTCCCACACCGTCTACTCCAGGAGGTCCTTTTGGGCCCACAGCTCCTGGCTCCCCCCTGGGGCCTGGAACTCCAGGAGGCCCAGACTCACCCTTGTCTCCTGGGGCCCCAGGAAGCCCATCCAAACCAGGTTTGCCTAAGCCAGCTGGACCAGGGAGGCCGGGGGGGCCGGGGGCACCCCCCTGCCCTGGGGCCCCAGGCAGCCCGGGCTGGCCCACTCCATTATCCCCCTTGAGGCCTCGATCACCTGGGGGCCCAGGCTCCCCCTGGGGCCCTGGTTCCCCCTGGAATCCTGGGGGCCCTGGCACCCCTTGGGCACCTGGTTTTCCAGGGATAGTAATGCCTGAGGGGCCCGGGAGGCCAGGGGGTCCTGGGGGTCCCCGGAGGCCCTGGTCCCCTCGTATTCCTGGCTCCCCCCGAAGCCCCGGCTGCCCTGGTGGCCCGACCTTGCCAGGGAGCCCTGGGGGACCAGCCTTGCCCATCCGGGAGAAGCCAGGGGGCCCAGCAGGGCCAGGCTGCCCATGGAGTCCTGGCTTTCCCATGCCTGGTTTTCCTGGGAAGCCAGGGGGGCCAGGGGGACCCCGAGGCCCGGGCTTCCCAGGGGGGCCGGGCTCTCCCTTCAGGTCCATCGGCAGCAGCGGTAGAGGCATTTCTGAGAAAGAAAGAGAAAGGGGCAGTCAGGGGCCTGAACTGTGGGGACAGGGGACCCCATCTACCCATTCCCCCATTCCAGTATGAGGTACACGGGAGAGGAAGAATGGGGCTGCCCCTTCCTGCTCTCATGGAAGATGGGGTTTGGGGGTGGCCCAGGGGACATCTTGGGGGCAACAGGGTGTCCTCCTTAAGGGCTCCTAACACCCAACCTACCTAGGCTGGGCCTCCTCCATGAGCCTGGCTGATTCTCACCTCTCATCCCTGCATGACCTGAAGGTGGAGTGGCCACCAGGTGGCACCAGCAGCCCACCTTAGAGCCCGTGGGAGCAGAGCCCCACCTCCCAACTTCCCAGTTCATCTCCCCCTTGGAAGACCACCTGTGCCAGCTAACTGCACCGTTTCCAGGCCCTCTGGGGTATTAGGAAAAACACTGAAGGTAGGAAAATTGGTGGGGAATGAGGAGCTGTGGAGGGCGCCTGAGGATCTGATGGCTCTCAGGGAGGCAGGGGATTTGGGGGCTGGGAGCGATTTGAGGCACTGTGGGGTGAGGAGGCTCTCACCCAGGTACTGGCCTTTGCCCTCACGGAAGGGCGGTCCCACAGGTCCTTTCTGCATGGGCTGGATGTACTTCACTGGGGCATAGCCCGCCGCCCCACCGGCCCCGCCACCAGAGGACGCCCGCGGCCCACACCCCAGCACCAGCACCAGTAGCAGCAGCAGCAGCGAAGACAGGGGTGTCAGAGTCCCCAGCATGGCGTCCGTGGACGTGCTGCAAAGAAGAACAGAGAAAGTCATCAAGCCAGCCCTGGGTGGTTTGGCACTAGGCCCGGGGTCACCAAAAGATCAGAATTTAGAGATTACACTGGAGATTTCAGT
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GGGTTGGGAGGGGCATCCTGCCTGTTTCCTGCAGAGGAGCTCTGATCGGGGAACAGGGCAGAAACGTCCAGAGCCAACTCATTCCCAAGGGACCTGTTGGCACCCTTTCTCTCCCAGCCTTAGCCTCCTGGGCCCTAGTCCTGCTTAGAACAGGAAATTGGAACCAGAGGGTGGAAGGAGAGGAAGCCCCCACAGATGAACCCCTCTTGTACACACATACACCCACCATATGGTTCTTATTAAGGAAAAGGAAGTGGGAGCCGTCTTCATCCCCCAGCTCGCGTGCACCTTGTTCAGAGGGCCAAACGAGAGGTGCTCTGCCTTGGGGATACCTGGCTGGGGTGACAAGGATCCTCTTACAATTTTGTATTGAGAAAACCAGCCCAGCCCGCAGCAGGTGGAAGGGGAGAAAGGGAAGAGTGCTCATGTTTGCTGATGGTCGATTCTGCCTCCGCCACCATCTGCACTAGATACTTCTAGACACTTCACAGAGGTTGATCTTTCTGGCCTGTAGGTGTCCCAGGGGCCTCTGTGCTGCCCTCAAGCTAAACAGCCAGAGCTGGCGGGGGCAGCCCGGGAGAGACAGGGATGAACGTGAAGAGCTGCCTCCTGCCCCAGGTCTGTGCCCCAAGCCCTCACAAACTGCCTTCCCCATGGCTGCCACTGGAGCAGTGAAAGGGAGGTTGCCCTTTCCCAGGGCAACAGGCACTGTGCCCACCACGGACATGTCTGATGCCACAGCATCACCATGGGGGCTGCAGTCCTGGCAGGGTGTCCACACTCGCCACCTCGATGGTCCCCTCTTCTCCCTTCCCCTTGGAGGAAAACCCCACAGTCCTTAGTCCACTGTCATATGCTGGAGGTCCCAGGGGGAGCTGGAGGAGCCCCAGCCAAGGGCTGTGAGGGAGGCCGTGCCCCTTTCCTCCAGCAGGTGCCATCAGGGAGCCAGTGGGAAGGGCTGTCTCCCCACGTGGCGGGGTGGGGAGTTGAGCTCCCTCTCAGCTCCTTCAGGGCCCAGCAGAGGCCAGGACTCACAAGGGGCTGGGCTGTGTGCCTCAGGGCCTATGGGGTGCAGCCCTGACACTGCACAGACATTTGGGGGAAAGAAACTCAGGCCAGCCCCTTCCAGAAACAATCTCAGCCTGCATGCAGGGAGAAAGCAAGTTAGTCTCCTCGGGCCAAGGCCACGGCCGCCTCTGTTCAGCTTTTGTTTTTTTTTCCAGGAGGTTCTTTGTAATTGAAAAGGTCGCTCTACCACTAAAGGGGAGGAGGCCAGGGCAGCAGGACCCCCCCCGCGGGTTATGTGGGGCAGAGCAAGAATCCTGAAAAGGAGGAGTGGATGTACTCCGTGGAGTAGAGGCCGTTGGCCTGGTCCGACGGCATCTGCACCCAGACCTGGTCGTTGGGCCGCAGCTGGAGCACGGCCCCACCAGATGCCTGGTCCAGGTAGCCCTTCTTGTACTCATCGTAGGTATAGGTGGCCGGCACGTTGTTCTTGTACAGGGCCACCCACACGTTGGTGCCCTTGACGTGCACATGGTAAGCAAAGTAGTAGACGCCGCCCACAGGGCAGGTGAAGATGCCAGTGGCTGGGTTGTAGCCGCTGTGGCCATTGTAGAGAGTCCGGTCAAATTTCACGGGCATGCCCGAGGCGGGGAAGGGCGAGGTGAGCACCGCAGTGAAGGCCGGTGTGGCATGGGCAGACAGCTCGCCCAGCCCAAACTGTGGCTTGCCCCCCTTGCCCAGCACGGCACCCTCCACACCGCCGTTGGGCAGGTGCAAGCCTGCGATGCCAGTCTCATCGAAGGCCCCAGGGGCACCAGGGGGTCCCGGGGGCCCGGGAGGCCCCGGAGGGCCCGTGATTCCAGGGGAGCCAGGGACCCCTGGGGGCCCCGTGGGCCCAGCCGTGCCAGGTTCCCCTGCTCTCCCCTCTCCAGGGGGCCCTGGCAGGCCTGGTTCCCCCTTCAGGCCCGGCAGGCCTTGGGGCCCAATAGGGCCAGCTGGACCCTGGAGTCCTGGGATTCCTGAGGGACCCCTCAGGCCAGGCTTCCCAGGGAGCCCCAAGTCACCTTTCTGCCCCAGGGCTCCTGCCACCCCTGGTCCTCCAGGGCGACCCGTGAAACCCGGCTCACCCTTGGGCCCAGTTGGTCCAGGGGGTCCATGGGCCCCAGGAAGTCCCCTCTCACCTGGGACCCCTGGTTTCCCAGCCAGGCCACTAGGCCCCTGGTCACCTCGAATGCCAGGCACTCCTGGGGGTCCTCCAGGCCCTGCCTCACCCTTAGGCCCAGGGGGCCCACGTCTGCCAGGAAGCCCTGCAGACCCAGGAAGTCCAGGGGGACCCCCAAGACCCTGTGGGCCCTGCTCCCCTGGCTCCCCATCCTCCCCTGGCTCACCCCTGTCCCCCAAGAGTCCTGGGACCCCAGCTGGGCCCCTGTCCCCCTTGGGGCCTGGCAGTCCTGGCATCCCATAGCCAGTGGGGCCTATCAGCCCAGGGGGGCCCCGGGTCCCTGGCTCCCCTTTGGCCCCTGATGGGCCCTGTGGTCCTGGCAACCCTGCTGCCCCTGGGACTCCCACACCGTCTACTCCAGGAGGTCCTTTTGGGCCCACAGCTCCTGGCTCCCCCCTGGGGCCTGGAACTCCAGGAGGCCCAGACTCACCCTTGTCTCCTGGGGCCCCAGGAAGCCCATCCAAACCAGGTTTGCCTAAGCCAGCTGGACCAGGGAGGCCGGGGGGGCCGGGGGCACCCCCCTGCCCTGGGGCCCCAGGCAGCCCGGGCTGGCCCACTCCATTATCCCCCTTGAGGCCTCGATCACCTGGGGGCCCAGGCTCCCCCTGGGGCCCTGGTTCCCCCTGGAATCCTGGGGGCCCTGGCACCCCTTGGGCACCTGGTTTTCCAGGGATAGTAATGCCTGAGGGGCCCGGGAGGCCAGGGGGTCCTGGGGGTCCCCGGAGGCCCTGGTCCCCTCGTATTCCTGGCTCCCCCCGAAGCCCCGGCTGCCCTGGTGGCCCGACCTTGCCAGGGAGCCCTGGGGGACCAGCCTTGCCCATCCGGGAGAAGCCAGGGGGCCCAGCAGGGCCAGGCTGCCCATGGAGTCCTGGCTTTCCCATGCCTGGTTTTCCTGGGAAGCCAGGGGGGCCAGGGGGACCCCGAGGCCCGGGCTTCCCAGGGGGGCCGGGCTCTCCCTTCAGGTCCATCGGCAGCAGCGGTAGAGGCATTTCTGAGAAAGAAAGAGAAAGGGGCAGTCAGGGGCCTGAACTGTGGGGACAGGGGACCCCATCTACCCATTCCCCCATTCCAGTATGAGGTACACGGGAGAGGAAGAATGGGGCTGCCCCTTCCTGCTCTCATGGAAGATGGGGTTTGGGGGTGGCCCAGGGGACATCTTGGGGGCAACAGGGTGTCCTCCTTAAGGGCTCCTAACACCCAACCTACCTAGGCTGGGCCTCCTCCATGAGCCTGGCTGATTCTCACCTCTCATCCCTGCATGACCTGAAGGTGGAGTGGCCACCAGGTGGCACCAGCAGCCCACCTTAGAGCCCGTGGGAGCAGAGCCCCACCTCCCAACTTCCCAGTTCATCTCCCCCTTGGAAGACCACCTGTGCCAGCTAACTGCACCGTTTCCAGGCCCTCTGGGGTATTAGGAAAAACACTGAAGGTAGGAAAATTGGTGGGGAATGAGGAGCTGTGGAGGGCGCCTGAGGATCTGATGGCTCTCAGGGAGGCAGGGGATTTGGGGGCTGGGAGCGATTTGAGGCACTGTGGGGTGAGGAGGCTCTCACCCAGGTACTGGCCTTTGCCCTCACGGAAGGGCGGTCCCACAGGTCCTTTCTGCATGGGCTGGATGTACTTCACTGGGGCATAGCCCGCCGCCCCACCGGCCCCGCCACCAGAGGACGCCCGCGGCCCACACCCCAGCACCAGCACCAGTAGCAGCAGCAGCAGCGAAGACAGGGGTGTCAGAGTCCCCAGCATGGCGTCCGTGGACGTGCTGCAAAGAAGAACAGAGAAAGTCATCAAGCCAGCCCTGGGTGGTTTGGCACTAGGCCCGGGGTCACCAAAAGATCAGAATTTAGAGATTACACTGGAGATTTCAGT
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Task1_train_666
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A genetic alteration is present in COL8A2 (collagen type VIII alpha 2 chain) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Posterior polymorphous corneal dystrophy 2
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ATCCTGCCTGTTTCCTGCAGAGGAGCTCTGATCGGGGAACAGGGCAGAAACGTCCAGAGCCAACTCATTCCCAAGGGACCTGTTGGCACCCTTTCTCTCCCAGCCTTAGCCTCCTGGGCCCTAGTCCTGCTTAGAACAGGAAATTGGAACCAGAGGGTGGAAGGAGAGGAAGCCCCCACAGATGAACCCCTCTTGTACACACATACACCCACCATATGGTTCTTATTAAGGAAAAGGAAGTGGGAGCCGTCTTCATCCCCCAGCTCGCGTGCACCTTGTTCAGAGGGCCAAACGAGAGGTGCTCTGCCTTGGGGATACCTGGCTGGGGTGACAAGGATCCTCTTACAATTTTGTATTGAGAAAACCAGCCCAGCCCGCAGCAGGTGGAAGGGGAGAAAGGGAAGAGTGCTCATGTTTGCTGATGGTCGATTCTGCCTCCGCCACCATCTGCACTAGATACTTCTAGACACTTCACAGAGGTTGATCTTTCTGGCCTGTAGGTGTCCCAGGGGCCTCTGTGCTGCCCTCAAGCTAAACAGCCAGAGCTGGCGGGGGCAGCCCGGGAGAGACAGGGATGAACGTGAAGAGCTGCCTCCTGCCCCAGGTCTGTGCCCCAAGCCCTCACAAACTGCCTTCCCCATGGCTGCCACTGGAGCAGTGAAAGGGAGGTTGCCCTTTCCCAGGGCAACAGGCACTGTGCCCACCACGGACATGTCTGATGCCACAGCATCACCATGGGGGCTGCAGTCCTGGCAGGGTGTCCACACTCGCCACCTCGATGGTCCCCTCTTCTCCCTTCCCCTTGGAGGAAAACCCCACAGTCCTTAGTCCACTGTCATATGCTGGAGGTCCCAGGGGGAGCTGGAGGAGCCCCAGCCAAGGGCTGTGAGGGAGGCCGTGCCCCTTTCCTCCAGCAGGTGCCATCAGGGAGCCAGTGGGAAGGGCTGTCTCCCCACGTGGCGGGGTGGGGAGTTGAGCTCCCTCTCAGCTCCTTCAGGGCCCAGCAGAGGCCAGGACTCACAAGGGGCTGGGCTGTGTGCCTCAGGGCCTATGGGGTGCAGCCCTGACACTGCACAGACATTTGGGGGAAAGAAACTCAGGCCAGCCCCTTCCAGAAACAATCTCAGCCTGCATGCAGGGAGAAAGCAAGTTAGTCTCCTCGGGCCAAGGCCACGGCCGCCTCTGTTCAGCTTTTGTTTTTTTTTCCAGGAGGTTCTTTGTAATTGAAAAGGTCGCTCTACCACTAAAGGGGAGGAGGCCAGGGCAGCAGGACCCCCCCCGCGGGTTATGTGGGGCAGAGCAAGAATCCTGAAAAGGAGGAGTGGATGTACTCCGTGGAGTAGAGGCCGTTGGCCTGGTCCGACGGCATCTGCACCCAGACCTGGTCGTTGGGCCGCAGCTGGAGCACGGCCCCACCAGATGCCTGGTCCAGGTAGCCCTTCTTGTACTCATCGTAGGTATAGGTGGCCGGCACGTTGTTCTTGTACAGGGCCACCCACACGTTGGTGCCCTTGACGTGCACATGGTAAGCAAAGTAGTAGACGCCGCCCACAGGGCAGGTGAAGATGCCAGTGGCTGGGTTGTAGCCGCTGTGGCCATTGTAGAGAGTCCGGTCAAATTTCACGGGCATGCCCGAGGCGGGGAAGGGCGAGGTGAGCACCGCAGTGAAGGCCGGTGTGGCATGGGCAGACAGCTCGCCCAGCCCAAACTGTGGCTTGCCCCCCTTGCCCAGCACGGCACCCTCCACACCGCCGTTGGGCAGGTGCAAGCCTGCGATGCCAGTCTCATCGAAGGCCCCAGGGGCACCAGGGGGTCCCGGGGGCCCGGGAGGCCCCGGAGGGCCCGTGATTCCAGGGGAGCCAGGGACCCCTGGGGGCCCCGTGGGCCCAGCCGTGCCAGGTTCCCCTGCTCTCCCCTCTCCAGGGGGCCCTGGCAGGCCTGGTTCCCCCTTCAGGCCCGGCAGGCCTTGGGGCCCAATAGGGCCAGCTGGACCCTGGAGTCCTGGGATTCCTGAGGGACCCCTCAGGCCAGGCTGCCCAGGGAGCCCCAAGTCACCTTTCTGCCCCAGGGCTCCTGCCACCCCTGGTCCTCCAGGGCGACCCGTGAAACCCGGCTCACCCTTGGGCCCAGTTGGTCCAGGGGGTCCATGGGCCCCAGGAAGTCCCCTCTCACCTGGGACCCCTGGTTTCCCAGCCAGGCCACTAGGCCCCTGGTCACCTCGAATGCCAGGCACTCCTGGGGGTCCTCCAGGCCCTGCCTCACCCTTAGGCCCAGGGGGCCCACGTCTGCCAGGAAGCCCTGCAGACCCAGGAAGTCCAGGGGGACCCCCAAGACCCTGTGGGCCCTGCTCCCCTGGCTCCCCATCCTCCCCTGGCTCACCCCTGTCCCCCAAGAGTCCTGGGACCCCAGCTGGGCCCCTGTCCCCCTTGGGGCCTGGCAGTCCTGGCATCCCATAGCCAGTGGGGCCTATCAGCCCAGGGGGGCCCCGGGTCCCTGGCTCCCCTTTGGCCCCTGATGGGCCCTGTGGTCCTGGCAACCCTGCTGCCCCTGGGACTCCCACACCGTCTACTCCAGGAGGTCCTTTTGGGCCCACAGCTCCTGGCTCCCCCCTGGGGCCTGGAACTCCAGGAGGCCCAGACTCACCCTTGTCTCCTGGGGCCCCAGGAAGCCCATCCAAACCAGGTTTGCCTAAGCCAGCTGGACCAGGGAGGCCGGGGGGGCCGGGGGCACCCCCCTGCCCTGGGGCCCCAGGCAGCCCGGGCTGGCCCACTCCATTATCCCCCTTGAGGCCTCGATCACCTGGGGGCCCAGGCTCCCCCTGGGGCCCTGGTTCCCCCTGGAATCCTGGGGGCCCTGGCACCCCTTGGGCACCTGGTTTTCCAGGGATAGTAATGCCTGAGGGGCCCGGGAGGCCAGGGGGTCCTGGGGGTCCCCGGAGGCCCTGGTCCCCTCGTATTCCTGGCTCCCCCCGAAGCCCCGGCTGCCCTGGTGGCCCGACCTTGCCAGGGAGCCCTGGGGGACCAGCCTTGCCCATCCGGGAGAAGCCAGGGGGCCCAGCAGGGCCAGGCTGCCCATGGAGTCCTGGCTTTCCCATGCCTGGTTTTCCTGGGAAGCCAGGGGGGCCAGGGGGACCCCGAGGCCCGGGCTTCCCAGGGGGGCCGGGCTCTCCCTTCAGGTCCATCGGCAGCAGCGGTAGAGGCATTTCTGAGAAAGAAAGAGAAAGGGGCAGTCAGGGGCCTGAACTGTGGGGACAGGGGACCCCATCTACCCATTCCCCCATTCCAGTATGAGGTACACGGGAGAGGAAGAATGGGGCTGCCCCTTCCTGCTCTCATGGAAGATGGGGTTTGGGGGTGGCCCAGGGGACATCTTGGGGGCAACAGGGTGTCCTCCTTAAGGGCTCCTAACACCCAACCTACCTAGGCTGGGCCTCCTCCATGAGCCTGGCTGATTCTCACCTCTCATCCCTGCATGACCTGAAGGTGGAGTGGCCACCAGGTGGCACCAGCAGCCCACCTTAGAGCCCGTGGGAGCAGAGCCCCACCTCCCAACTTCCCAGTTCATCTCCCCCTTGGAAGACCACCTGTGCCAGCTAACTGCACCGTTTCCAGGCCCTCTGGGGTATTAGGAAAAACACTGAAGGTAGGAAAATTGGTGGGGAATGAGGAGCTGTGGAGGGCGCCTGAGGATCTGATGGCTCTCAGGGAGGCAGGGGATTTGGGGGCTGGGAGCGATTTGAGGCACTGTGGGGTGAGGAGGCTCTCACCCAGGTACTGGCCTTTGCCCTCACGGAAGGGCGGTCCCACAGGTCCTTTCTGCATGGGCTGGATGTACTTCACTGGGGCATAGCCCGCCGCCCCACCGGCCCCGCCACCAGAGGACGCCCGCGGCCCACACCCCAGCACCAGCACCAGTAGCAGCAGCAGCAGCGAAGACAGGGGTGTCAGAGTCCCCAGCATGGCGTCCGTGGACGTGCTGCAAAGAAGAACAGAGAAAGTCATCAAGCCAGCCCTGGGTGGTTTGGCACTAGGCCCGGGGTCACCAAAAGATCAGAATTTAGAGATTACACTGGAGATTTCAGTCAAAAGGCTGAGAA
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ATCCTGCCTGTTTCCTGCAGAGGAGCTCTGATCGGGGAACAGGGCAGAAACGTCCAGAGCCAACTCATTCCCAAGGGACCTGTTGGCACCCTTTCTCTCCCAGCCTTAGCCTCCTGGGCCCTAGTCCTGCTTAGAACAGGAAATTGGAACCAGAGGGTGGAAGGAGAGGAAGCCCCCACAGATGAACCCCTCTTGTACACACATACACCCACCATATGGTTCTTATTAAGGAAAAGGAAGTGGGAGCCGTCTTCATCCCCCAGCTCGCGTGCACCTTGTTCAGAGGGCCAAACGAGAGGTGCTCTGCCTTGGGGATACCTGGCTGGGGTGACAAGGATCCTCTTACAATTTTGTATTGAGAAAACCAGCCCAGCCCGCAGCAGGTGGAAGGGGAGAAAGGGAAGAGTGCTCATGTTTGCTGATGGTCGATTCTGCCTCCGCCACCATCTGCACTAGATACTTCTAGACACTTCACAGAGGTTGATCTTTCTGGCCTGTAGGTGTCCCAGGGGCCTCTGTGCTGCCCTCAAGCTAAACAGCCAGAGCTGGCGGGGGCAGCCCGGGAGAGACAGGGATGAACGTGAAGAGCTGCCTCCTGCCCCAGGTCTGTGCCCCAAGCCCTCACAAACTGCCTTCCCCATGGCTGCCACTGGAGCAGTGAAAGGGAGGTTGCCCTTTCCCAGGGCAACAGGCACTGTGCCCACCACGGACATGTCTGATGCCACAGCATCACCATGGGGGCTGCAGTCCTGGCAGGGTGTCCACACTCGCCACCTCGATGGTCCCCTCTTCTCCCTTCCCCTTGGAGGAAAACCCCACAGTCCTTAGTCCACTGTCATATGCTGGAGGTCCCAGGGGGAGCTGGAGGAGCCCCAGCCAAGGGCTGTGAGGGAGGCCGTGCCCCTTTCCTCCAGCAGGTGCCATCAGGGAGCCAGTGGGAAGGGCTGTCTCCCCACGTGGCGGGGTGGGGAGTTGAGCTCCCTCTCAGCTCCTTCAGGGCCCAGCAGAGGCCAGGACTCACAAGGGGCTGGGCTGTGTGCCTCAGGGCCTATGGGGTGCAGCCCTGACACTGCACAGACATTTGGGGGAAAGAAACTCAGGCCAGCCCCTTCCAGAAACAATCTCAGCCTGCATGCAGGGAGAAAGCAAGTTAGTCTCCTCGGGCCAAGGCCACGGCCGCCTCTGTTCAGCTTTTGTTTTTTTTTCCAGGAGGTTCTTTGTAATTGAAAAGGTCGCTCTACCACTAAAGGGGAGGAGGCCAGGGCAGCAGGACCCCCCCCGCGGGTTATGTGGGGCAGAGCAAGAATCCTGAAAAGGAGGAGTGGATGTACTCCGTGGAGTAGAGGCCGTTGGCCTGGTCCGACGGCATCTGCACCCAGACCTGGTCGTTGGGCCGCAGCTGGAGCACGGCCCCACCAGATGCCTGGTCCAGGTAGCCCTTCTTGTACTCATCGTAGGTATAGGTGGCCGGCACGTTGTTCTTGTACAGGGCCACCCACACGTTGGTGCCCTTGACGTGCACATGGTAAGCAAAGTAGTAGACGCCGCCCACAGGGCAGGTGAAGATGCCAGTGGCTGGGTTGTAGCCGCTGTGGCCATTGTAGAGAGTCCGGTCAAATTTCACGGGCATGCCCGAGGCGGGGAAGGGCGAGGTGAGCACCGCAGTGAAGGCCGGTGTGGCATGGGCAGACAGCTCGCCCAGCCCAAACTGTGGCTTGCCCCCCTTGCCCAGCACGGCACCCTCCACACCGCCGTTGGGCAGGTGCAAGCCTGCGATGCCAGTCTCATCGAAGGCCCCAGGGGCACCAGGGGGTCCCGGGGGCCCGGGAGGCCCCGGAGGGCCCGTGATTCCAGGGGAGCCAGGGACCCCTGGGGGCCCCGTGGGCCCAGCCGTGCCAGGTTCCCCTGCTCTCCCCTCTCCAGGGGGCCCTGGCAGGCCTGGTTCCCCCTTCAGGCCCGGCAGGCCTTGGGGCCCAATAGGGCCAGCTGGACCCTGGAGTCCTGGGATTCCTGAGGGACCCCTCAGGCCAGGCTGCCCAGGGAGCCCCCAGTCACCTTTCTGCCCCAGGGCTCCTGCCACCCCTGGTCCTCCAGGGCGACCCGTGAAACCCGGCTCACCCTTGGGCCCAGTTGGTCCAGGGGGTCCATGGGCCCCAGGAAGTCCCCTCTCACCTGGGACCCCTGGTTTCCCAGCCAGGCCACTAGGCCCCTGGTCACCTCGAATGCCAGGCACTCCTGGGGGTCCTCCAGGCCCTGCCTCACCCTTAGGCCCAGGGGGCCCACGTCTGCCAGGAAGCCCTGCAGACCCAGGAAGTCCAGGGGGACCCCCAAGACCCTGTGGGCCCTGCTCCCCTGGCTCCCCATCCTCCCCTGGCTCACCCCTGTCCCCCAAGAGTCCTGGGACCCCAGCTGGGCCCCTGTCCCCCTTGGGGCCTGGCAGTCCTGGCATCCCATAGCCAGTGGGGCCTATCAGCCCAGGGGGGCCCCGGGTCCCTGGCTCCCCTTTGGCCCCTGATGGGCCCTGTGGTCCTGGCAACCCTGCTGCCCCTGGGACTCCCACACCGTCTACTCCAGGAGGTCCTTTTGGGCCCACAGCTCCTGGCTCCCCCCTGGGGCCTGGAACTCCAGGAGGCCCAGACTCACCCTTGTCTCCTGGGGCCCCAGGAAGCCCATCCAAACCAGGTTTGCCTAAGCCAGCTGGACCAGGGAGGCCGGGGGGGCCGGGGGCACCCCCCTGCCCTGGGGCCCCAGGCAGCCCGGGCTGGCCCACTCCATTATCCCCCTTGAGGCCTCGATCACCTGGGGGCCCAGGCTCCCCCTGGGGCCCTGGTTCCCCCTGGAATCCTGGGGGCCCTGGCACCCCTTGGGCACCTGGTTTTCCAGGGATAGTAATGCCTGAGGGGCCCGGGAGGCCAGGGGGTCCTGGGGGTCCCCGGAGGCCCTGGTCCCCTCGTATTCCTGGCTCCCCCCGAAGCCCCGGCTGCCCTGGTGGCCCGACCTTGCCAGGGAGCCCTGGGGGACCAGCCTTGCCCATCCGGGAGAAGCCAGGGGGCCCAGCAGGGCCAGGCTGCCCATGGAGTCCTGGCTTTCCCATGCCTGGTTTTCCTGGGAAGCCAGGGGGGCCAGGGGGACCCCGAGGCCCGGGCTTCCCAGGGGGGCCGGGCTCTCCCTTCAGGTCCATCGGCAGCAGCGGTAGAGGCATTTCTGAGAAAGAAAGAGAAAGGGGCAGTCAGGGGCCTGAACTGTGGGGACAGGGGACCCCATCTACCCATTCCCCCATTCCAGTATGAGGTACACGGGAGAGGAAGAATGGGGCTGCCCCTTCCTGCTCTCATGGAAGATGGGGTTTGGGGGTGGCCCAGGGGACATCTTGGGGGCAACAGGGTGTCCTCCTTAAGGGCTCCTAACACCCAACCTACCTAGGCTGGGCCTCCTCCATGAGCCTGGCTGATTCTCACCTCTCATCCCTGCATGACCTGAAGGTGGAGTGGCCACCAGGTGGCACCAGCAGCCCACCTTAGAGCCCGTGGGAGCAGAGCCCCACCTCCCAACTTCCCAGTTCATCTCCCCCTTGGAAGACCACCTGTGCCAGCTAACTGCACCGTTTCCAGGCCCTCTGGGGTATTAGGAAAAACACTGAAGGTAGGAAAATTGGTGGGGAATGAGGAGCTGTGGAGGGCGCCTGAGGATCTGATGGCTCTCAGGGAGGCAGGGGATTTGGGGGCTGGGAGCGATTTGAGGCACTGTGGGGTGAGGAGGCTCTCACCCAGGTACTGGCCTTTGCCCTCACGGAAGGGCGGTCCCACAGGTCCTTTCTGCATGGGCTGGATGTACTTCACTGGGGCATAGCCCGCCGCCCCACCGGCCCCGCCACCAGAGGACGCCCGCGGCCCACACCCCAGCACCAGCACCAGTAGCAGCAGCAGCAGCGAAGACAGGGGTGTCAGAGTCCCCAGCATGGCGTCCGTGGACGTGCTGCAAAGAAGAACAGAGAAAGTCATCAAGCCAGCCCTGGGTGGTTTGGCACTAGGCCCGGGGTCACCAAAAGATCAGAATTTAGAGATTACACTGGAGATTTCAGTCAAAAGGCTGAGAA
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Task1_train_667
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The following genetic variant occurs in COL8A2 (collagen type VIII alpha 2 chain) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Corneal dystrophy, Fuchs endothelial, 1
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ATCCTGCCTGTTTCCTGCAGAGGAGCTCTGATCGGGGAACAGGGCAGAAACGTCCAGAGCCAACTCATTCCCAAGGGACCTGTTGGCACCCTTTCTCTCCCAGCCTTAGCCTCCTGGGCCCTAGTCCTGCTTAGAACAGGAAATTGGAACCAGAGGGTGGAAGGAGAGGAAGCCCCCACAGATGAACCCCTCTTGTACACACATACACCCACCATATGGTTCTTATTAAGGAAAAGGAAGTGGGAGCCGTCTTCATCCCCCAGCTCGCGTGCACCTTGTTCAGAGGGCCAAACGAGAGGTGCTCTGCCTTGGGGATACCTGGCTGGGGTGACAAGGATCCTCTTACAATTTTGTATTGAGAAAACCAGCCCAGCCCGCAGCAGGTGGAAGGGGAGAAAGGGAAGAGTGCTCATGTTTGCTGATGGTCGATTCTGCCTCCGCCACCATCTGCACTAGATACTTCTAGACACTTCACAGAGGTTGATCTTTCTGGCCTGTAGGTGTCCCAGGGGCCTCTGTGCTGCCCTCAAGCTAAACAGCCAGAGCTGGCGGGGGCAGCCCGGGAGAGACAGGGATGAACGTGAAGAGCTGCCTCCTGCCCCAGGTCTGTGCCCCAAGCCCTCACAAACTGCCTTCCCCATGGCTGCCACTGGAGCAGTGAAAGGGAGGTTGCCCTTTCCCAGGGCAACAGGCACTGTGCCCACCACGGACATGTCTGATGCCACAGCATCACCATGGGGGCTGCAGTCCTGGCAGGGTGTCCACACTCGCCACCTCGATGGTCCCCTCTTCTCCCTTCCCCTTGGAGGAAAACCCCACAGTCCTTAGTCCACTGTCATATGCTGGAGGTCCCAGGGGGAGCTGGAGGAGCCCCAGCCAAGGGCTGTGAGGGAGGCCGTGCCCCTTTCCTCCAGCAGGTGCCATCAGGGAGCCAGTGGGAAGGGCTGTCTCCCCACGTGGCGGGGTGGGGAGTTGAGCTCCCTCTCAGCTCCTTCAGGGCCCAGCAGAGGCCAGGACTCACAAGGGGCTGGGCTGTGTGCCTCAGGGCCTATGGGGTGCAGCCCTGACACTGCACAGACATTTGGGGGAAAGAAACTCAGGCCAGCCCCTTCCAGAAACAATCTCAGCCTGCATGCAGGGAGAAAGCAAGTTAGTCTCCTCGGGCCAAGGCCACGGCCGCCTCTGTTCAGCTTTTGTTTTTTTTTCCAGGAGGTTCTTTGTAATTGAAAAGGTCGCTCTACCACTAAAGGGGAGGAGGCCAGGGCAGCAGGACCCCCCCCGCGGGTTATGTGGGGCAGAGCAAGAATCCTGAAAAGGAGGAGTGGATGTACTCCGTGGAGTAGAGGCCGTTGGCCTGGTCCGACGGCATCTGCACCCAGACCTGGTCGTTGGGCCGCAGCTGGAGCACGGCCCCACCAGATGCCTGGTCCAGGTAGCCCTTCTTGTACTCATCGTAGGTATAGGTGGCCGGCACGTTGTTCTTGTACAGGGCCACCCACACGTTGGTGCCCTTGACGTGCACATGGTAAGCAAAGTAGTAGACGCCGCCCACAGGGCAGGTGAAGATGCCAGTGGCTGGGTTGTAGCCGCTGTGGCCATTGTAGAGAGTCCGGTCAAATTTCACGGGCATGCCCGAGGCGGGGAAGGGCGAGGTGAGCACCGCAGTGAAGGCCGGTGTGGCATGGGCAGACAGCTCGCCCAGCCCAAACTGTGGCTTGCCCCCCTTGCCCAGCACGGCACCCTCCACACCGCCGTTGGGCAGGTGCAAGCCTGCGATGCCAGTCTCATCGAAGGCCCCAGGGGCACCAGGGGGTCCCGGGGGCCCGGGAGGCCCCGGAGGGCCCGTGATTCCAGGGGAGCCAGGGACCCCTGGGGGCCCCGTGGGCCCAGCCGTGCCAGGTTCCCCTGCTCTCCCCTCTCCAGGGGGCCCTGGCAGGCCTGGTTCCCCCTTCAGGCCCGGCAGGCCTTGGGGCCCAATAGGGCCAGCTGGACCCTGGAGTCCTGGGATTCCTGAGGGACCCCTCAGGCCAGGCTGCCCAGGGAGCCCCAAGTCACCTTTCTGCCCCAGGGCTCCTGCCACCCCTGGTCCTCCAGGGCGACCCGTGAAACCCGGCTCACCCTTGGGCCCAGTTGGTCCAGGGGGTCCATGGGCCCCAGGAAGTCCCCTCTCACCTGGGACCCCTGGTTTCCCAGCCAGGCCACTAGGCCCCTGGTCACCTCGAATGCCAGGCACTCCTGGGGGTCCTCCAGGCCCTGCCTCACCCTTAGGCCCAGGGGGCCCACGTCTGCCAGGAAGCCCTGCAGACCCAGGAAGTCCAGGGGGACCCCCAAGACCCTGTGGGCCCTGCTCCCCTGGCTCCCCATCCTCCCCTGGCTCACCCCTGTCCCCCAAGAGTCCTGGGACCCCAGCTGGGCCCCTGTCCCCCTTGGGGCCTGGCAGTCCTGGCATCCCATAGCCAGTGGGGCCTATCAGCCCAGGGGGGCCCCGGGTCCCTGGCTCCCCTTTGGCCCCTGATGGGCCCTGTGGTCCTGGCAACCCTGCTGCCCCTGGGACTCCCACACCGTCTACTCCAGGAGGTCCTTTTGGGCCCACAGCTCCTGGCTCCCCCCTGGGGCCTGGAACTCCAGGAGGCCCAGACTCACCCTTGTCTCCTGGGGCCCCAGGAAGCCCATCCAAACCAGGTTTGCCTAAGCCAGCTGGACCAGGGAGGCCGGGGGGGCCGGGGGCACCCCCCTGCCCTGGGGCCCCAGGCAGCCCGGGCTGGCCCACTCCATTATCCCCCTTGAGGCCTCGATCACCTGGGGGCCCAGGCTCCCCCTGGGGCCCTGGTTCCCCCTGGAATCCTGGGGGCCCTGGCACCCCTTGGGCACCTGGTTTTCCAGGGATAGTAATGCCTGAGGGGCCCGGGAGGCCAGGGGGTCCTGGGGGTCCCCGGAGGCCCTGGTCCCCTCGTATTCCTGGCTCCCCCCGAAGCCCCGGCTGCCCTGGTGGCCCGACCTTGCCAGGGAGCCCTGGGGGACCAGCCTTGCCCATCCGGGAGAAGCCAGGGGGCCCAGCAGGGCCAGGCTGCCCATGGAGTCCTGGCTTTCCCATGCCTGGTTTTCCTGGGAAGCCAGGGGGGCCAGGGGGACCCCGAGGCCCGGGCTTCCCAGGGGGGCCGGGCTCTCCCTTCAGGTCCATCGGCAGCAGCGGTAGAGGCATTTCTGAGAAAGAAAGAGAAAGGGGCAGTCAGGGGCCTGAACTGTGGGGACAGGGGACCCCATCTACCCATTCCCCCATTCCAGTATGAGGTACACGGGAGAGGAAGAATGGGGCTGCCCCTTCCTGCTCTCATGGAAGATGGGGTTTGGGGGTGGCCCAGGGGACATCTTGGGGGCAACAGGGTGTCCTCCTTAAGGGCTCCTAACACCCAACCTACCTAGGCTGGGCCTCCTCCATGAGCCTGGCTGATTCTCACCTCTCATCCCTGCATGACCTGAAGGTGGAGTGGCCACCAGGTGGCACCAGCAGCCCACCTTAGAGCCCGTGGGAGCAGAGCCCCACCTCCCAACTTCCCAGTTCATCTCCCCCTTGGAAGACCACCTGTGCCAGCTAACTGCACCGTTTCCAGGCCCTCTGGGGTATTAGGAAAAACACTGAAGGTAGGAAAATTGGTGGGGAATGAGGAGCTGTGGAGGGCGCCTGAGGATCTGATGGCTCTCAGGGAGGCAGGGGATTTGGGGGCTGGGAGCGATTTGAGGCACTGTGGGGTGAGGAGGCTCTCACCCAGGTACTGGCCTTTGCCCTCACGGAAGGGCGGTCCCACAGGTCCTTTCTGCATGGGCTGGATGTACTTCACTGGGGCATAGCCCGCCGCCCCACCGGCCCCGCCACCAGAGGACGCCCGCGGCCCACACCCCAGCACCAGCACCAGTAGCAGCAGCAGCAGCGAAGACAGGGGTGTCAGAGTCCCCAGCATGGCGTCCGTGGACGTGCTGCAAAGAAGAACAGAGAAAGTCATCAAGCCAGCCCTGGGTGGTTTGGCACTAGGCCCGGGGTCACCAAAAGATCAGAATTTAGAGATTACACTGGAGATTTCAGTCAAAAGGCTGAGAA
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ATCCTGCCTGTTTCCTGCAGAGGAGCTCTGATCGGGGAACAGGGCAGAAACGTCCAGAGCCAACTCATTCCCAAGGGACCTGTTGGCACCCTTTCTCTCCCAGCCTTAGCCTCCTGGGCCCTAGTCCTGCTTAGAACAGGAAATTGGAACCAGAGGGTGGAAGGAGAGGAAGCCCCCACAGATGAACCCCTCTTGTACACACATACACCCACCATATGGTTCTTATTAAGGAAAAGGAAGTGGGAGCCGTCTTCATCCCCCAGCTCGCGTGCACCTTGTTCAGAGGGCCAAACGAGAGGTGCTCTGCCTTGGGGATACCTGGCTGGGGTGACAAGGATCCTCTTACAATTTTGTATTGAGAAAACCAGCCCAGCCCGCAGCAGGTGGAAGGGGAGAAAGGGAAGAGTGCTCATGTTTGCTGATGGTCGATTCTGCCTCCGCCACCATCTGCACTAGATACTTCTAGACACTTCACAGAGGTTGATCTTTCTGGCCTGTAGGTGTCCCAGGGGCCTCTGTGCTGCCCTCAAGCTAAACAGCCAGAGCTGGCGGGGGCAGCCCGGGAGAGACAGGGATGAACGTGAAGAGCTGCCTCCTGCCCCAGGTCTGTGCCCCAAGCCCTCACAAACTGCCTTCCCCATGGCTGCCACTGGAGCAGTGAAAGGGAGGTTGCCCTTTCCCAGGGCAACAGGCACTGTGCCCACCACGGACATGTCTGATGCCACAGCATCACCATGGGGGCTGCAGTCCTGGCAGGGTGTCCACACTCGCCACCTCGATGGTCCCCTCTTCTCCCTTCCCCTTGGAGGAAAACCCCACAGTCCTTAGTCCACTGTCATATGCTGGAGGTCCCAGGGGGAGCTGGAGGAGCCCCAGCCAAGGGCTGTGAGGGAGGCCGTGCCCCTTTCCTCCAGCAGGTGCCATCAGGGAGCCAGTGGGAAGGGCTGTCTCCCCACGTGGCGGGGTGGGGAGTTGAGCTCCCTCTCAGCTCCTTCAGGGCCCAGCAGAGGCCAGGACTCACAAGGGGCTGGGCTGTGTGCCTCAGGGCCTATGGGGTGCAGCCCTGACACTGCACAGACATTTGGGGGAAAGAAACTCAGGCCAGCCCCTTCCAGAAACAATCTCAGCCTGCATGCAGGGAGAAAGCAAGTTAGTCTCCTCGGGCCAAGGCCACGGCCGCCTCTGTTCAGCTTTTGTTTTTTTTTCCAGGAGGTTCTTTGTAATTGAAAAGGTCGCTCTACCACTAAAGGGGAGGAGGCCAGGGCAGCAGGACCCCCCCCGCGGGTTATGTGGGGCAGAGCAAGAATCCTGAAAAGGAGGAGTGGATGTACTCCGTGGAGTAGAGGCCGTTGGCCTGGTCCGACGGCATCTGCACCCAGACCTGGTCGTTGGGCCGCAGCTGGAGCACGGCCCCACCAGATGCCTGGTCCAGGTAGCCCTTCTTGTACTCATCGTAGGTATAGGTGGCCGGCACGTTGTTCTTGTACAGGGCCACCCACACGTTGGTGCCCTTGACGTGCACATGGTAAGCAAAGTAGTAGACGCCGCCCACAGGGCAGGTGAAGATGCCAGTGGCTGGGTTGTAGCCGCTGTGGCCATTGTAGAGAGTCCGGTCAAATTTCACGGGCATGCCCGAGGCGGGGAAGGGCGAGGTGAGCACCGCAGTGAAGGCCGGTGTGGCATGGGCAGACAGCTCGCCCAGCCCAAACTGTGGCTTGCCCCCCTTGCCCAGCACGGCACCCTCCACACCGCCGTTGGGCAGGTGCAAGCCTGCGATGCCAGTCTCATCGAAGGCCCCAGGGGCACCAGGGGGTCCCGGGGGCCCGGGAGGCCCCGGAGGGCCCGTGATTCCAGGGGAGCCAGGGACCCCTGGGGGCCCCGTGGGCCCAGCCGTGCCAGGTTCCCCTGCTCTCCCCTCTCCAGGGGGCCCTGGCAGGCCTGGTTCCCCCTTCAGGCCCGGCAGGCCTTGGGGCCCAATAGGGCCAGCTGGACCCTGGAGTCCTGGGATTCCTGAGGGACCCCTCAGGCCAGGCTGCCCAGGGAGCCCCCAGTCACCTTTCTGCCCCAGGGCTCCTGCCACCCCTGGTCCTCCAGGGCGACCCGTGAAACCCGGCTCACCCTTGGGCCCAGTTGGTCCAGGGGGTCCATGGGCCCCAGGAAGTCCCCTCTCACCTGGGACCCCTGGTTTCCCAGCCAGGCCACTAGGCCCCTGGTCACCTCGAATGCCAGGCACTCCTGGGGGTCCTCCAGGCCCTGCCTCACCCTTAGGCCCAGGGGGCCCACGTCTGCCAGGAAGCCCTGCAGACCCAGGAAGTCCAGGGGGACCCCCAAGACCCTGTGGGCCCTGCTCCCCTGGCTCCCCATCCTCCCCTGGCTCACCCCTGTCCCCCAAGAGTCCTGGGACCCCAGCTGGGCCCCTGTCCCCCTTGGGGCCTGGCAGTCCTGGCATCCCATAGCCAGTGGGGCCTATCAGCCCAGGGGGGCCCCGGGTCCCTGGCTCCCCTTTGGCCCCTGATGGGCCCTGTGGTCCTGGCAACCCTGCTGCCCCTGGGACTCCCACACCGTCTACTCCAGGAGGTCCTTTTGGGCCCACAGCTCCTGGCTCCCCCCTGGGGCCTGGAACTCCAGGAGGCCCAGACTCACCCTTGTCTCCTGGGGCCCCAGGAAGCCCATCCAAACCAGGTTTGCCTAAGCCAGCTGGACCAGGGAGGCCGGGGGGGCCGGGGGCACCCCCCTGCCCTGGGGCCCCAGGCAGCCCGGGCTGGCCCACTCCATTATCCCCCTTGAGGCCTCGATCACCTGGGGGCCCAGGCTCCCCCTGGGGCCCTGGTTCCCCCTGGAATCCTGGGGGCCCTGGCACCCCTTGGGCACCTGGTTTTCCAGGGATAGTAATGCCTGAGGGGCCCGGGAGGCCAGGGGGTCCTGGGGGTCCCCGGAGGCCCTGGTCCCCTCGTATTCCTGGCTCCCCCCGAAGCCCCGGCTGCCCTGGTGGCCCGACCTTGCCAGGGAGCCCTGGGGGACCAGCCTTGCCCATCCGGGAGAAGCCAGGGGGCCCAGCAGGGCCAGGCTGCCCATGGAGTCCTGGCTTTCCCATGCCTGGTTTTCCTGGGAAGCCAGGGGGGCCAGGGGGACCCCGAGGCCCGGGCTTCCCAGGGGGGCCGGGCTCTCCCTTCAGGTCCATCGGCAGCAGCGGTAGAGGCATTTCTGAGAAAGAAAGAGAAAGGGGCAGTCAGGGGCCTGAACTGTGGGGACAGGGGACCCCATCTACCCATTCCCCCATTCCAGTATGAGGTACACGGGAGAGGAAGAATGGGGCTGCCCCTTCCTGCTCTCATGGAAGATGGGGTTTGGGGGTGGCCCAGGGGACATCTTGGGGGCAACAGGGTGTCCTCCTTAAGGGCTCCTAACACCCAACCTACCTAGGCTGGGCCTCCTCCATGAGCCTGGCTGATTCTCACCTCTCATCCCTGCATGACCTGAAGGTGGAGTGGCCACCAGGTGGCACCAGCAGCCCACCTTAGAGCCCGTGGGAGCAGAGCCCCACCTCCCAACTTCCCAGTTCATCTCCCCCTTGGAAGACCACCTGTGCCAGCTAACTGCACCGTTTCCAGGCCCTCTGGGGTATTAGGAAAAACACTGAAGGTAGGAAAATTGGTGGGGAATGAGGAGCTGTGGAGGGCGCCTGAGGATCTGATGGCTCTCAGGGAGGCAGGGGATTTGGGGGCTGGGAGCGATTTGAGGCACTGTGGGGTGAGGAGGCTCTCACCCAGGTACTGGCCTTTGCCCTCACGGAAGGGCGGTCCCACAGGTCCTTTCTGCATGGGCTGGATGTACTTCACTGGGGCATAGCCCGCCGCCCCACCGGCCCCGCCACCAGAGGACGCCCGCGGCCCACACCCCAGCACCAGCACCAGTAGCAGCAGCAGCAGCGAAGACAGGGGTGTCAGAGTCCCCAGCATGGCGTCCGTGGACGTGCTGCAAAGAAGAACAGAGAAAGTCATCAAGCCAGCCCTGGGTGGTTTGGCACTAGGCCCGGGGTCACCAAAAGATCAGAATTTAGAGATTACACTGGAGATTTCAGTCAAAAGGCTGAGAA
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Task1_train_668
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This alteration in CSF3R (colony stimulating factor 3 receptor) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; not provided
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CCTCACCCCTCCCTTAGACAAGGATGGGACCGTGTAAGAACTACTACTGGGTTTCAGCCATGTCTCTGGCAGCCTCGTAGCCTGGAGACTAAAGTCGCTGAGTTTGGAATCGCACAGTCCTGGTCTGGAATCCTAACTCAGCCATTTACTCAACATGTGATCTTGTGGGCAAGTCACTTAACCTATGTGGGCCCTGTAGGGATAGTAATAACAATATCTCTCTTTTAGGTTGTTGAGAGGATTAACTGAGTTGTATGCAGACCACCTGGTATATAGTGAGCATTTAGTAAATCTTTACGGTGACGTTATTTGTGAAATGAGTGGTGTAAGGGTGGATACAAATTAGAAGAAAAAGAAAATTTAATTTTCCCTGGCGCAAAAAGGGAAAAGACTCCTTCCCCTCACTTTTCTGAGAGCATTTACTTTAGAAAACTTGTAATTGTGAATACTTTCTCTACTGCTTTGCGATGAATGTAAATCTTCTTAAAAGGTAAATAAACCTCTTGCCAGTTTTACAACCCCGGAATGTTTTTCTCAAGGACCTGGGGGCCAACCCTTTGAAATGTAATAATTAAGGAAGATAGTGCTCTCTCTCAGTTCCTGTGGGAGGGTAGGAGCCTAACTTCAGTTGGTGCCTAGCTCTTAGTTGCAACCTACCCTTTGTTATAAAGATAGGGGAAATCGATTTTTCCTTTGGATAAAGGCAATTAGCAGACACAGGTGGCTTCCCACTTACCAGGTAAATTTAGAGTGAGGTGCAGCCAAGTCCTCTTGCTTGAGGACCAGTTATTGTTTATCTTGAGAAAATGGATACAGTAAGTTGTATTCACTTTGCTACATAAAAGAGTAAGATTTTTGTCTCTTTGCAGTCTCTTTAGTGGATCACCAGTGTATCACATTCCGGTTTAATGCTTATTCAATAATAACACTGTTTTCTTTCTTTTCTACCCTTGTGAAGAGGTTTTCTGCGTTGGCAGGGGATTTTGTCTTTAATTTTATTTCCCCAACAGGGGTTAGTTTTTCCAAAGTCTCTTCACCGTGTCCCACCGCACTGTCACTCCCCCCGTGTAACCCATGCCACTGTGCCCTAAGGATCAGTTTTCAAGTCTCCACCACTAGAATGCAGCTCTCTGAGGGTGAACTGAGCTGAGTCGTTTGCATAGGGCCTAGATACTGAGAGCTAGCAGAAGGAAGCAAGGGAAGGAAGGAGGGAAGGAAGGAAGGGAAAGGAAGGAAGGGAGGAAGGAAGGGGGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGAAAGGACCAACTCTGAGAAGTTTCCCCCTGACTGCTGGGCCCTGAAAAATAAATAACAGAGACTCAGGTACACCCAAGAGTGTCTATAAACAACAACAAAAACTGCAAACCAAAAACTAGTTTACAATACTGAAGTTATAGGAAACAAGCACAAAAGGCCATTGGGTGGGGCTGGATGGAGCATGATCTGGTCCTTAAAGTATGCAGATCGCCTGGGAGGCCCAGCCTATGGAGATTGGGAGGAGAGGGAGATGCTGGTGACTGGAGATGGTGAGAGCCTGGGCTGGGGTAGTTTTTAGTCATGGGCTTATGGACCCTCCCCTCTTCTCCAGCTAGCTCAGGCCTTTAAGAGGCAGGCCCAAGAAGGGAACCCCAGGAAGCCCTAGAAGCTCCCCAGCGCCTCCATCCCATGGACCCGGATCCCCTGCAGGAGGGGGAAGTTGAGCAGTGGCCCAAAGACACAGTCGTCCTCCTGGCTTGGGGCTGGGGTTACCAGGGTCCCCAAGGGGCTGGCCTGGAACCAGAGGTTCTCATAGGACTTGGGGCTGGGGGTGAGGCCCGCCAAGAGGGGCTGAGTGGAGTCACAGCGGAGATAGTGCCCTGGCCCTGGGCTTGTGGGGCTGCCCAGCAGCTGCCCATAAAGGACCTGATCGCTGGTGCCAGACTGGGATTGGGGCTGGGTGGAAACTGCTCTTGGGTCCCCCTGGAGCACATAGGTCTGGACCAGAGTGGGGAGGCCACAGGTCTCTGAGCTGTTATGGGACTCCCAGGGCACCGGCTTCTTTTCATCCTCCTCCAGCACTGTGAGCTTGGTGATGGGTGGCGTGCCAAGGCCGGGCAGCTGGAAGGCATCCTGCACACAAGGATGTGGGGTGAGAGCACGGCTCATTTCAGATGTCTGCCCCAGCCACTGTCCCTGTCTGGGTCCGGGCAGCTGTGGGGACATTCAACTGTTGTTACTGGTGGAACACAAAGGGTACCACTTGCAAAGCACTAGTATGTTCCTCACACATGCCTGACACATGCCATGCACCGTTCAGACTCAGCATGGTCAGTTTTTCCATATCACAGGGAGGTGACTGAGGCTTTGAGATGGACAGAGGTGGGATTCAAAGTTGGGTCTGCTTCAGTCCAAAGGGACGAGATGTTGCCGGAAGTGACAGGAAGGCCTGAGTACTTGGCTTCAGAAGGTGTCCCTTCACTGAGCCTGGGCCGACATCCCCATCTCATTTCCCTCTCCCTCCTGGATTCTCACCTCCTCCATGATTGTGGGCACCCAGGAGCCCAGGCTGCTGTGAGCTGGGTCTGGGACACTTGGCCAGAGGGGATTCTTCCTGCTGGAGAAGGGGGCAGGTGGAGGCTGAGTCAGACACACCCTCCGATCTTTCCATTTTTTGTCCCACCCACCCCACCTGAAGAGGTGCAGCTGCCCTTAGTGCAGAGAGAAGAAGCTGGGGGCTGGGACTCTCAGACATGGGCCCCAAAGTTTGGGAAGGCTGGAAGGGACTTAGATGGGCCCATCTGGACCTGAGGTTCCCTGTGGGTGGGGGAAGCAGGATCTCAGGTCTCTCAAAGGGACTCACTTGGGGCTGCAACAGAGCCAGGCAGTTCCACAGAGGCAGGTGAGCAACAGCAGGAGGCCGAACAGGCCCAGGATGATGTGTAGCTCCGACCCCTCTGCAGTGAGGGCAGGGCCGGAAGAAGTTAGAATGCATGTTGGGAAGGCTGGGTCTCCTCCCTCCGACCAGGGGATTCAAAGTCAGTCCCCAGCTACTCTCAAAATCAGCATCCTTTGGGTGGGGTACCCTCCAAACAGCCATCTCTGCCCAGCCCCCGTCTCCCCTTACCTGGGGTCAAGGTCATCAGGGTGAGGACTGTACTGTTGGTGGCCCCAGCCTGGCTGGCAGCCATGAGGTGGATGTGATACAGACTGGCGGGCTCCAGGCCATGGAGGACAAAGCCACGGGAGGAGGCATTCAGGATGGCGGCTGGGAGGGGTGTACGGTCAGCATAGGCCTGGATGGTAAAGCTGCCTCCGTGGCAGCTGAGCACCCCCTTCCAGGCCTTCTGGGGCTGTGGGGGAACTGAGGATAGACTCACAGAAGGACTGGTTCTGAGCGTTGGTCCAGAAGATGGTGTAGTGGGTAAGGGGGCTCTTCCCCAGCTCAGGGGGCTCAGGCACCCACTCCAGCTGTGCCCAGGTCTTGCCAATGTGCTTTAGATGCAGCTCTGGGGCATGGGAGGGAGCTATGGGAAGAGAGAGGTGCGGGGGCTGAAGGGAGTGGGGCAGAGCAAGAGCCCGGTTGGACTTCTTGTGGCTTCCCAGACACTGTGGGGTGGGTGAGAAAAGAGTCCAAGGGGACTCATGCCCAAGCCTCATTTTTCCCAGGGATTTAATCCAGATTCCATCTACTGCTAATAAGTGTCTGAGCCAGGATTTGAACCTGGCTCTGCTTGACTCTAAAGCCTCACTTTCTGATTTCTACCAGGCCTGATTTCATCTGATTTACTCTCTGATTTCTGCCACTCACTCTCCGAATTTATGCCAGGTCCTCTGTCCAATTTCTTTTTGTTTTTGAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTACAGCCTCGACCTCCTGGGCTCAAGCCCTCCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGGTTACAGGCATGTGTCACTGCACCCAGCTAATTTTTGGTTTGTTTGTTTGTTTATTTATTTATTTATTTATTTTTCTGTAGAGACAAGGTTGCCTAGGCTGGTCTCA
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CCTCACCCCTCCCTTAGACAAGGATGGGACCGTGTAAGAACTACTACTGGGTTTCAGCCATGTCTCTGGCAGCCTCGTAGCCTGGAGACTAAAGTCGCTGAGTTTGGAATCGCACAGTCCTGGTCTGGAATCCTAACTCAGCCATTTACTCAACATGTGATCTTGTGGGCAAGTCACTTAACCTATGTGGGCCCTGTAGGGATAGTAATAACAATATCTCTCTTTTAGGTTGTTGAGAGGATTAACTGAGTTGTATGCAGACCACCTGGTATATAGTGAGCATTTAGTAAATCTTTACGGTGACGTTATTTGTGAAATGAGTGGTGTAAGGGTGGATACAAATTAGAAGAAAAAGAAAATTTAATTTTCCCTGGCGCAAAAAGGGAAAAGACTCCTTCCCCTCACTTTTCTGAGAGCATTTACTTTAGAAAACTTGTAATTGTGAATACTTTCTCTACTGCTTTGCGATGAATGTAAATCTTCTTAAAAGGTAAATAAACCTCTTGCCAGTTTTACAACCCCGGAATGTTTTTCTCAAGGACCTGGGGGCCAACCCTTTGAAATGTAATAATTAAGGAAGATAGTGCTCTCTCTCAGTTCCTGTGGGAGGGTAGGAGCCTAACTTCAGTTGGTGCCTAGCTCTTAGTTGCAACCTACCCTTTGTTATAAAGATAGGGGAAATCGATTTTTCCTTTGGATAAAGGCAATTAGCAGACACAGGTGGCTTCCCACTTACCAGGTAAATTTAGAGTGAGGTGCAGCCAAGTCCTCTTGCTTGAGGACCAGTTATTGTTTATCTTGAGAAAATGGATACAGTAAGTTGTATTCACTTTGCTACATAAAAGAGTAAGATTTTTGTCTCTTTGCAGTCTCTTTAGTGGATCACCAGTGTATCACATTCCGGTTTAATGCTTATTCAATAATAACACTGTTTTCTTTCTTTTCTACCCTTGTGAAGAGGTTTTCTGCGTTGGCAGGGGATTTTGTCTTTAATTTTATTTCCCCAACAGGGGTTAGTTTTTCCAAAGTCTCTTCACCGTGTCCCACCGCACTGTCACTCCCCCCGTGTAACCCATGCCACTGTGCCCTAAGGATCAGTTTTCAAGTCTCCACCACTAGAATGCAGCTCTCTGAGGGTGAACTGAGCTGAGTCGTTTGCATAGGGCCTAGATACTGAGAGCTAGCAGAAGGAAGCAAGGGAAGGAAGGAGGGAAGGAAGGAAGGGAAAGGAAGGAAGGGAGGAAGGAAGGGGGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGAAAGGACCAACTCTGAGAAGTTTCCCCCTGACTGCTGGGCCCTGAAAAATAAATAACAGAGACTCAGGTACACCCAAGAGTGTCTATAAACAACAACAAAAACTGCAAACCAAAAACTAGTTTACAATACTGAAGTTATAGGAAACAAGCACAAAAGGCCATTGGGTGGGGCTGGATGGAGCATGATCTGGTCCTTAAAGTATGCAGATCGCCTGGGAGGCCCAGCCTATGGAGATTGGGAGGAGAGGGAGATGCTGGTGACTGGAGATGGTGAGAGCCTGGGCTGGGGTAGTTTTTAGTCATGGGCTTATGGACCCTCCCCTCTTCTCCAGCTAGCTCAGGCCTTTAAGAGGCAGGCCCAAGAAGGGAACCCCAGGAAGCCCTAGAAGCTCCCCAGCGCCTCCATCCCATGGACCCGGATCCCCTGCAGGAGGGGGAAGTTGAGCAGTGGCCCAAAGACACAGTCGTCCTCCTGGCTTGGGGCTGGGGTTACCAGGGTCCCCAAGGGGCTGGCCTGGAACCAGAGGTTCTCATAGGACTTGGGGCTGGGGGTGAGGCCCGCCAAGAGGGGCTGAGTGGAGTCACAGCGGAGATAGTGCCCTGGCCCTGGGCTTGTGGGGCTGCCCAGCAGCTGCCCATAAAGGACCTGATCGCTGGTGCCAGACTGGGATTGGGGCTGGGTGGAAACTGCTCTTGGGTCCCCCTGGAGCACATAGGTCTGGACCAGAGTGGGGAGGCCACAGGTCTCTGAGCTGTTATAGGACTCCCAGGGCACCGGCTTCTTTTCATCCTCCTCCAGCACTGTGAGCTTGGTGATGGGTGGCGTGCCAAGGCCGGGCAGCTGGAAGGCATCCTGCACACAAGGATGTGGGGTGAGAGCACGGCTCATTTCAGATGTCTGCCCCAGCCACTGTCCCTGTCTGGGTCCGGGCAGCTGTGGGGACATTCAACTGTTGTTACTGGTGGAACACAAAGGGTACCACTTGCAAAGCACTAGTATGTTCCTCACACATGCCTGACACATGCCATGCACCGTTCAGACTCAGCATGGTCAGTTTTTCCATATCACAGGGAGGTGACTGAGGCTTTGAGATGGACAGAGGTGGGATTCAAAGTTGGGTCTGCTTCAGTCCAAAGGGACGAGATGTTGCCGGAAGTGACAGGAAGGCCTGAGTACTTGGCTTCAGAAGGTGTCCCTTCACTGAGCCTGGGCCGACATCCCCATCTCATTTCCCTCTCCCTCCTGGATTCTCACCTCCTCCATGATTGTGGGCACCCAGGAGCCCAGGCTGCTGTGAGCTGGGTCTGGGACACTTGGCCAGAGGGGATTCTTCCTGCTGGAGAAGGGGGCAGGTGGAGGCTGAGTCAGACACACCCTCCGATCTTTCCATTTTTTGTCCCACCCACCCCACCTGAAGAGGTGCAGCTGCCCTTAGTGCAGAGAGAAGAAGCTGGGGGCTGGGACTCTCAGACATGGGCCCCAAAGTTTGGGAAGGCTGGAAGGGACTTAGATGGGCCCATCTGGACCTGAGGTTCCCTGTGGGTGGGGGAAGCAGGATCTCAGGTCTCTCAAAGGGACTCACTTGGGGCTGCAACAGAGCCAGGCAGTTCCACAGAGGCAGGTGAGCAACAGCAGGAGGCCGAACAGGCCCAGGATGATGTGTAGCTCCGACCCCTCTGCAGTGAGGGCAGGGCCGGAAGAAGTTAGAATGCATGTTGGGAAGGCTGGGTCTCCTCCCTCCGACCAGGGGATTCAAAGTCAGTCCCCAGCTACTCTCAAAATCAGCATCCTTTGGGTGGGGTACCCTCCAAACAGCCATCTCTGCCCAGCCCCCGTCTCCCCTTACCTGGGGTCAAGGTCATCAGGGTGAGGACTGTACTGTTGGTGGCCCCAGCCTGGCTGGCAGCCATGAGGTGGATGTGATACAGACTGGCGGGCTCCAGGCCATGGAGGACAAAGCCACGGGAGGAGGCATTCAGGATGGCGGCTGGGAGGGGTGTACGGTCAGCATAGGCCTGGATGGTAAAGCTGCCTCCGTGGCAGCTGAGCACCCCCTTCCAGGCCTTCTGGGGCTGTGGGGGAACTGAGGATAGACTCACAGAAGGACTGGTTCTGAGCGTTGGTCCAGAAGATGGTGTAGTGGGTAAGGGGGCTCTTCCCCAGCTCAGGGGGCTCAGGCACCCACTCCAGCTGTGCCCAGGTCTTGCCAATGTGCTTTAGATGCAGCTCTGGGGCATGGGAGGGAGCTATGGGAAGAGAGAGGTGCGGGGGCTGAAGGGAGTGGGGCAGAGCAAGAGCCCGGTTGGACTTCTTGTGGCTTCCCAGACACTGTGGGGTGGGTGAGAAAAGAGTCCAAGGGGACTCATGCCCAAGCCTCATTTTTCCCAGGGATTTAATCCAGATTCCATCTACTGCTAATAAGTGTCTGAGCCAGGATTTGAACCTGGCTCTGCTTGACTCTAAAGCCTCACTTTCTGATTTCTACCAGGCCTGATTTCATCTGATTTACTCTCTGATTTCTGCCACTCACTCTCCGAATTTATGCCAGGTCCTCTGTCCAATTTCTTTTTGTTTTTGAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTACAGCCTCGACCTCCTGGGCTCAAGCCCTCCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGGTTACAGGCATGTGTCACTGCACCCAGCTAATTTTTGGTTTGTTTGTTTGTTTATTTATTTATTTATTTATTTTTCTGTAGAGACAAGGTTGCCTAGGCTGGTCTCA
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Task1_train_669
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This genomic variant is located on Chromosome 1, within the CSF3R (colony stimulating factor 3 receptor) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Hereditary neutrophilia
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TTGCAGTCTCTTTAGTGGATCACCAGTGTATCACATTCCGGTTTAATGCTTATTCAATAATAACACTGTTTTCTTTCTTTTCTACCCTTGTGAAGAGGTTTTCTGCGTTGGCAGGGGATTTTGTCTTTAATTTTATTTCCCCAACAGGGGTTAGTTTTTCCAAAGTCTCTTCACCGTGTCCCACCGCACTGTCACTCCCCCCGTGTAACCCATGCCACTGTGCCCTAAGGATCAGTTTTCAAGTCTCCACCACTAGAATGCAGCTCTCTGAGGGTGAACTGAGCTGAGTCGTTTGCATAGGGCCTAGATACTGAGAGCTAGCAGAAGGAAGCAAGGGAAGGAAGGAGGGAAGGAAGGAAGGGAAAGGAAGGAAGGGAGGAAGGAAGGGGGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGAAAGGACCAACTCTGAGAAGTTTCCCCCTGACTGCTGGGCCCTGAAAAATAAATAACAGAGACTCAGGTACACCCAAGAGTGTCTATAAACAACAACAAAAACTGCAAACCAAAAACTAGTTTACAATACTGAAGTTATAGGAAACAAGCACAAAAGGCCATTGGGTGGGGCTGGATGGAGCATGATCTGGTCCTTAAAGTATGCAGATCGCCTGGGAGGCCCAGCCTATGGAGATTGGGAGGAGAGGGAGATGCTGGTGACTGGAGATGGTGAGAGCCTGGGCTGGGGTAGTTTTTAGTCATGGGCTTATGGACCCTCCCCTCTTCTCCAGCTAGCTCAGGCCTTTAAGAGGCAGGCCCAAGAAGGGAACCCCAGGAAGCCCTAGAAGCTCCCCAGCGCCTCCATCCCATGGACCCGGATCCCCTGCAGGAGGGGGAAGTTGAGCAGTGGCCCAAAGACACAGTCGTCCTCCTGGCTTGGGGCTGGGGTTACCAGGGTCCCCAAGGGGCTGGCCTGGAACCAGAGGTTCTCATAGGACTTGGGGCTGGGGGTGAGGCCCGCCAAGAGGGGCTGAGTGGAGTCACAGCGGAGATAGTGCCCTGGCCCTGGGCTTGTGGGGCTGCCCAGCAGCTGCCCATAAAGGACCTGATCGCTGGTGCCAGACTGGGATTGGGGCTGGGTGGAAACTGCTCTTGGGTCCCCCTGGAGCACATAGGTCTGGACCAGAGTGGGGAGGCCACAGGTCTCTGAGCTGTTATGGGACTCCCAGGGCACCGGCTTCTTTTCATCCTCCTCCAGCACTGTGAGCTTGGTGATGGGTGGCGTGCCAAGGCCGGGCAGCTGGAAGGCATCCTGCACACAAGGATGTGGGGTGAGAGCACGGCTCATTTCAGATGTCTGCCCCAGCCACTGTCCCTGTCTGGGTCCGGGCAGCTGTGGGGACATTCAACTGTTGTTACTGGTGGAACACAAAGGGTACCACTTGCAAAGCACTAGTATGTTCCTCACACATGCCTGACACATGCCATGCACCGTTCAGACTCAGCATGGTCAGTTTTTCCATATCACAGGGAGGTGACTGAGGCTTTGAGATGGACAGAGGTGGGATTCAAAGTTGGGTCTGCTTCAGTCCAAAGGGACGAGATGTTGCCGGAAGTGACAGGAAGGCCTGAGTACTTGGCTTCAGAAGGTGTCCCTTCACTGAGCCTGGGCCGACATCCCCATCTCATTTCCCTCTCCCTCCTGGATTCTCACCTCCTCCATGATTGTGGGCACCCAGGAGCCCAGGCTGCTGTGAGCTGGGTCTGGGACACTTGGCCAGAGGGGATTCTTCCTGCTGGAGAAGGGGGCAGGTGGAGGCTGAGTCAGACACACCCTCCGATCTTTCCATTTTTTGTCCCACCCACCCCACCTGAAGAGGTGCAGCTGCCCTTAGTGCAGAGAGAAGAAGCTGGGGGCTGGGACTCTCAGACATGGGCCCCAAAGTTTGGGAAGGCTGGAAGGGACTTAGATGGGCCCATCTGGACCTGAGGTTCCCTGTGGGTGGGGGAAGCAGGATCTCAGGTCTCTCAAAGGGACTCACTTGGGGCTGCAACAGAGCCAGGCAGTTCCACAGAGGCAGGTGAGCAACAGCAGGAGGCCGAACAGGCCCAGGATGATGTGTAGCTCCGACCCCTCTGCAGTGAGGGCAGGGCCGGAAGAAGTTAGAATGCATGTTGGGAAGGCTGGGTCTCCTCCCTCCGACCAGGGGATTCAAAGTCAGTCCCCAGCTACTCTCAAAATCAGCATCCTTTGGGTGGGGTACCCTCCAAACAGCCATCTCTGCCCAGCCCCCGTCTCCCCTTACCTGGGGTCAAGGTCATCAGGGTGAGGACTGTACTGTTGGTGGCCCCAGCCTGGCTGGCAGCCATGAGGTGGATGTGATACAGACTGGCGGGCTCCAGGCCATGGAGGACAAAGCCACGGGAGGAGGCATTCAGGATGGCGGCTGGGAGGGGTGTACGGTCAGCATAGGCCTGGATGGTAAAGCTGCCTCCGTGGCAGCTGAGCACCCCCTTCCAGGCCTTCTGGGGCTGTGGGGGAACTGAGGATAGACTCACAGAAGGACTGGTTCTGAGCGTTGGTCCAGAAGATGGTGTAGTGGGTAAGGGGGCTCTTCCCCAGCTCAGGGGGCTCAGGCACCCACTCCAGCTGTGCCCAGGTCTTGCCAATGTGCTTTAGATGCAGCTCTGGGGCATGGGAGGGAGCTATGGGAAGAGAGAGGTGCGGGGGCTGAAGGGAGTGGGGCAGAGCAAGAGCCCGGTTGGACTTCTTGTGGCTTCCCAGACACTGTGGGGTGGGTGAGAAAAGAGTCCAAGGGGACTCATGCCCAAGCCTCATTTTTCCCAGGGATTTAATCCAGATTCCATCTACTGCTAATAAGTGTCTGAGCCAGGATTTGAACCTGGCTCTGCTTGACTCTAAAGCCTCACTTTCTGATTTCTACCAGGCCTGATTTCATCTGATTTACTCTCTGATTTCTGCCACTCACTCTCCGAATTTATGCCAGGTCCTCTGTCCAATTTCTTTTTGTTTTTGAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTACAGCCTCGACCTCCTGGGCTCAAGCCCTCCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGGTTACAGGCATGTGTCACTGCACCCAGCTAATTTTTGGTTTGTTTGTTTGTTTATTTATTTATTTATTTATTTTTCTGTAGAGACAAGGTTGCCTAGGCTGGTCTCAAACTCTTGAACTCAGGGGATCTGCCTGCCCTGGCCTCCCAGAGTGTTAGGATTACAGGTGTGAGCCACTGCACCCGGCCCCTCTGTCCAATTTCTGTTACATATAACACCTTATTTTTGTCTGGGAAATGGTTTGATTTTTGCCAGGTTTGCTCCTTGAATTGTGCCAACTCCCTACTCAATTTCTATCCCAGCACCTGATTTCTGTCCAGCTGTAGGGATCCAGTGTAAGCCAGGGGATTGGGAGAGATCCTCTCCAGGGCTGGAAGTATGGTAGGAAGGCAATGTTCCCTATACTTCTGATTGCTGGGGACCAGGCAGAGCCTTGGGAGAGAGAGGAGAGGATTCTGGAAAGGGGCCTGATAGTTGACAAACCCATTTCTTGAGAGTAGGCATAGACATGCTGGGAGGGTCCCATGGTGTCCTGGTACAAGGGAGTCACGATGATCTCATAGAGCTGAAAGGGCCTGATGTTCTCTGTAGAGAGAAAATGGGGTAGGCACTTCTGTTAGGGCCTAACCTGTGCTAATGATCAGGAGCTAGCCTCAGACCTCTAGTGAGGGCTAACCTGGCCTCATGATTCAGGGTTAACCTCCACAATATCTTCTTTAGATCATTTGATGAGAATTAGGGAAGAAAAGTGGAAGAGAGAGCTAGAAGGGTGGCAGAGTCAGGGCTATAGAAAAAGGATCAGGTTAGACTGTAGGAAGAACTTCCTGATTATGAGGATATGAAATGAGAACAACGAAGGATCAAGAAAGGCTGGAGAATCCATGTCTCTTGGGCAGTTCAGGTTGTCCCATGCCTATTGTCAGATAAGCACTGCCTCCCTTTGTCCCTGGCCCTGCCCAACTTTCCAGGCCA
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TTGCAGTCTCTTTAGTGGATCACCAGTGTATCACATTCCGGTTTAATGCTTATTCAATAATAACACTGTTTTCTTTCTTTTCTACCCTTGTGAAGAGGTTTTCTGCGTTGGCAGGGGATTTTGTCTTTAATTTTATTTCCCCAACAGGGGTTAGTTTTTCCAAAGTCTCTTCACCGTGTCCCACCGCACTGTCACTCCCCCCGTGTAACCCATGCCACTGTGCCCTAAGGATCAGTTTTCAAGTCTCCACCACTAGAATGCAGCTCTCTGAGGGTGAACTGAGCTGAGTCGTTTGCATAGGGCCTAGATACTGAGAGCTAGCAGAAGGAAGCAAGGGAAGGAAGGAGGGAAGGAAGGAAGGGAAAGGAAGGAAGGGAGGAAGGAAGGGGGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGAAAGGACCAACTCTGAGAAGTTTCCCCCTGACTGCTGGGCCCTGAAAAATAAATAACAGAGACTCAGGTACACCCAAGAGTGTCTATAAACAACAACAAAAACTGCAAACCAAAAACTAGTTTACAATACTGAAGTTATAGGAAACAAGCACAAAAGGCCATTGGGTGGGGCTGGATGGAGCATGATCTGGTCCTTAAAGTATGCAGATCGCCTGGGAGGCCCAGCCTATGGAGATTGGGAGGAGAGGGAGATGCTGGTGACTGGAGATGGTGAGAGCCTGGGCTGGGGTAGTTTTTAGTCATGGGCTTATGGACCCTCCCCTCTTCTCCAGCTAGCTCAGGCCTTTAAGAGGCAGGCCCAAGAAGGGAACCCCAGGAAGCCCTAGAAGCTCCCCAGCGCCTCCATCCCATGGACCCGGATCCCCTGCAGGAGGGGGAAGTTGAGCAGTGGCCCAAAGACACAGTCGTCCTCCTGGCTTGGGGCTGGGGTTACCAGGGTCCCCAAGGGGCTGGCCTGGAACCAGAGGTTCTCATAGGACTTGGGGCTGGGGGTGAGGCCCGCCAAGAGGGGCTGAGTGGAGTCACAGCGGAGATAGTGCCCTGGCCCTGGGCTTGTGGGGCTGCCCAGCAGCTGCCCATAAAGGACCTGATCGCTGGTGCCAGACTGGGATTGGGGCTGGGTGGAAACTGCTCTTGGGTCCCCCTGGAGCACATAGGTCTGGACCAGAGTGGGGAGGCCACAGGTCTCTGAGCTGTTATGGGACTCCCAGGGCACCGGCTTCTTTTCATCCTCCTCCAGCACTGTGAGCTTGGTGATGGGTGGCGTGCCAAGGCCGGGCAGCTGGAAGGCATCCTGCACACAAGGATGTGGGGTGAGAGCACGGCTCATTTCAGATGTCTGCCCCAGCCACTGTCCCTGTCTGGGTCCGGGCAGCTGTGGGGACATTCAACTGTTGTTACTGGTGGAACACAAAGGGTACCACTTGCAAAGCACTAGTATGTTCCTCACACATGCCTGACACATGCCATGCACCGTTCAGACTCAGCATGGTCAGTTTTTCCATATCACAGGGAGGTGACTGAGGCTTTGAGATGGACAGAGGTGGGATTCAAAGTTGGGTCTGCTTCAGTCCAAAGGGACGAGATGTTGCCGGAAGTGACAGGAAGGCCTGAGTACTTGGCTTCAGAAGGTGTCCCTTCACTGAGCCTGGGCCGACATCCCCATCTCATTTCCCTCTCCCTCCTGGATTCTCACCTCCTCCATGATTGTGGGCACCCAGGAGCCCAGGCTGCTGTGAGCTGGGTCTGGGACACTTGGCCAGAGGGGATTCTTCCTGCTGGAGAAGGGGGCAGGTGGAGGCTGAGTCAGACACACCCTCCGATCTTTCCATTTTTTGTCCCACCCACCCCACCTGAAGAGGTGCAGCTGCCCTTAGTGCAGAGAGAAGAAGCTGGGGGCTGGGACTCTCAGACATGGGCCCCAAAGTTTGGGAAGGCTGGAAGGGACTTAGATGGGCCCATCTGGACCTGAGGTTCCCTGTGGGTGGGGGAAGCAGGATCTCAGGTCTCTCAAAGGGACTCACTTGGGGCTGCAACAGAGCCAGGCAGTTCCACAGAGGCAGTTGAGCAACAGCAGGAGGCCGAACAGGCCCAGGATGATGTGTAGCTCCGACCCCTCTGCAGTGAGGGCAGGGCCGGAAGAAGTTAGAATGCATGTTGGGAAGGCTGGGTCTCCTCCCTCCGACCAGGGGATTCAAAGTCAGTCCCCAGCTACTCTCAAAATCAGCATCCTTTGGGTGGGGTACCCTCCAAACAGCCATCTCTGCCCAGCCCCCGTCTCCCCTTACCTGGGGTCAAGGTCATCAGGGTGAGGACTGTACTGTTGGTGGCCCCAGCCTGGCTGGCAGCCATGAGGTGGATGTGATACAGACTGGCGGGCTCCAGGCCATGGAGGACAAAGCCACGGGAGGAGGCATTCAGGATGGCGGCTGGGAGGGGTGTACGGTCAGCATAGGCCTGGATGGTAAAGCTGCCTCCGTGGCAGCTGAGCACCCCCTTCCAGGCCTTCTGGGGCTGTGGGGGAACTGAGGATAGACTCACAGAAGGACTGGTTCTGAGCGTTGGTCCAGAAGATGGTGTAGTGGGTAAGGGGGCTCTTCCCCAGCTCAGGGGGCTCAGGCACCCACTCCAGCTGTGCCCAGGTCTTGCCAATGTGCTTTAGATGCAGCTCTGGGGCATGGGAGGGAGCTATGGGAAGAGAGAGGTGCGGGGGCTGAAGGGAGTGGGGCAGAGCAAGAGCCCGGTTGGACTTCTTGTGGCTTCCCAGACACTGTGGGGTGGGTGAGAAAAGAGTCCAAGGGGACTCATGCCCAAGCCTCATTTTTCCCAGGGATTTAATCCAGATTCCATCTACTGCTAATAAGTGTCTGAGCCAGGATTTGAACCTGGCTCTGCTTGACTCTAAAGCCTCACTTTCTGATTTCTACCAGGCCTGATTTCATCTGATTTACTCTCTGATTTCTGCCACTCACTCTCCGAATTTATGCCAGGTCCTCTGTCCAATTTCTTTTTGTTTTTGAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTACAGCCTCGACCTCCTGGGCTCAAGCCCTCCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGGTTACAGGCATGTGTCACTGCACCCAGCTAATTTTTGGTTTGTTTGTTTGTTTATTTATTTATTTATTTATTTTTCTGTAGAGACAAGGTTGCCTAGGCTGGTCTCAAACTCTTGAACTCAGGGGATCTGCCTGCCCTGGCCTCCCAGAGTGTTAGGATTACAGGTGTGAGCCACTGCACCCGGCCCCTCTGTCCAATTTCTGTTACATATAACACCTTATTTTTGTCTGGGAAATGGTTTGATTTTTGCCAGGTTTGCTCCTTGAATTGTGCCAACTCCCTACTCAATTTCTATCCCAGCACCTGATTTCTGTCCAGCTGTAGGGATCCAGTGTAAGCCAGGGGATTGGGAGAGATCCTCTCCAGGGCTGGAAGTATGGTAGGAAGGCAATGTTCCCTATACTTCTGATTGCTGGGGACCAGGCAGAGCCTTGGGAGAGAGAGGAGAGGATTCTGGAAAGGGGCCTGATAGTTGACAAACCCATTTCTTGAGAGTAGGCATAGACATGCTGGGAGGGTCCCATGGTGTCCTGGTACAAGGGAGTCACGATGATCTCATAGAGCTGAAAGGGCCTGATGTTCTCTGTAGAGAGAAAATGGGGTAGGCACTTCTGTTAGGGCCTAACCTGTGCTAATGATCAGGAGCTAGCCTCAGACCTCTAGTGAGGGCTAACCTGGCCTCATGATTCAGGGTTAACCTCCACAATATCTTCTTTAGATCATTTGATGAGAATTAGGGAAGAAAAGTGGAAGAGAGAGCTAGAAGGGTGGCAGAGTCAGGGCTATAGAAAAAGGATCAGGTTAGACTGTAGGAAGAACTTCCTGATTATGAGGATATGAAATGAGAACAACGAAGGATCAAGAAAGGCTGGAGAATCCATGTCTCTTGGGCAGTTCAGGTTGTCCCATGCCTATTGTCAGATAAGCACTGCCTCCCTTTGTCCCTGGCCCTGCCCAACTTTCCAGGCCA
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Task1_train_670
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This is a variant in CSF3R (colony stimulating factor 3 receptor), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Severe congenital neutropenia
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ACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCGCAGCCTCCCGACTAGCTGGGATTACAGGCAACCGCCACCATGCCCGGCTAATTTTTGTATTTGTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGACCTCCTGACCTCAGATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACTGGACTCCTTGATACATTTTAATTCACTGAGTCCTCTAATAGTCATACCCAGGAAGTACTACTCTTTTCCCCATTTTACTAATGAGAAAACTGAGAGACACAGAGAGGTTAAGAAACTTGTCTAAGATCACACAGCTAGTAAGTGGGAATATTAGCTATGATTATTGTTATTGTGATTATTAGTCCCACCTTGCGAGGACCAATGTTTAGGGAAAGCAGTGGGTGGTGGCAGCTGATTTCCTGAGAATGAGCAATGAACTCATAGACCAGGTTCCAAGTGGAAAAGCCTGGGGCTTTCTCTCTTGGCTTTCTTGGCAGAATGGGCTGTGAGTGTGTGTGTGTGTGAGAGAGAGAGCTTAACCTGGTCTGGCTAATGATAATAACAACAGCAGACACATGCAGAGCAGTTACTTTGTGCCAGGCACTTGTCTTAACTCATGTACACCCCATGGCACCGCTCAGTAGGTGCTGTTATCATCCCCATCTGCTGGATGTGTAAACAGAGGCCGGGGATGGGAGGTAACTTACTCAGGTCACACTGTTAGCAAGTGATAGGACTCGTTTTTTGTTTTTTTTTGTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCCAGGCTAGAGTGTAATGGCGTGATCTCAGCTTGCTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGTGCCCGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGGTTTCACCATGTAGGCCAGGCTGGTCTTGAACTCCTGACCTCGGATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAATAGGACTAGATTTAACCCAGGCAGTCTAGCCTTTGAATTGATGCGCTTGACCTCTGTGCTCTTCTGGCTGCCAGCCCCCTTTACCTCTGCTTTCTGAGAAGACCACCGGAGTGGGACGAGAGGTCCCGGCTGAGTTATAGGCCACAAGGGCCACCTCCTGGGCTTCTGAAGGCAGGTGGAAGGTGCAGCTGAGCTCTGTGGTGTTGCAGAGGGGCAGGATGGCCCCAGCCTGGCCTGAGGGTCTCCAAGAAACCACATAACCTTGGATCCGTCCGCTGTCTTCCTCCAGGGGCACTGGCTGTGGGGCACAGGAGGAAAAAGAGAAGGGGATGTGCAGCTCATCTTGAGTCAAGGAGAGCCTCTAGGTGGGGTGGATGGATCATACAAACGGAGCCTCCCCAGGCTGGGGTCCAGGCTTCTCACCCCCCTCCCCTTTTCCCTCTGTTCCCTTGTGCTAGGTTCTAGGAAGGAGGGCAGGAAGAAACAAGTTGGTGGACACAGCAGGCTCTTAACTATTCACTGAACCACACTGTGACGTGCGTTACAGTCTGTCCAAAAGCTAACTCAGCTCCCTAGGCACATGCAAAGTGCATGCAAATCACATATAAATGCGTCCACGCCTCCCAGACCTGTTGGAGTCCTAAGCCCCGGTTTGTAGGGATCTGTTTGGACTGCGGGAGGTGTCGAGGTGGAGGGATGGCCTTCAGAGGGAGTCACCTTCCAGAACAGCTGCACTGTCCTGGGGTCCAGCTGCCTCTGCCGCCACCATGTGTCCAGTCTGACAGTGGGGGCTGTGGATGGAACAAGAAGAGGGGGTGCCAGTTGGGGAGGGGCCTGGGGCCTGGACTGGATACTGTTGGCTGCTCCCAGCCTCTCATCACCTCCTTACCCCGTTCGGTAGTTCTCAGCTCCAGGCTGGGGCTCCAGTCGCTCCAGTGGCCAGGCAGGGGCCAGCGGATGCAGCGTATCTGCAGGGTGTAGGCCGTGGCTGGGAGGAGCCCGCAGAGCTCATACTGAAGGGCCTCCAAGGGGAGGGGGCCCACCTGGTGAGGGGTGGACAGGACTCTGAGCCTTGGATCGCTGGGCCATTCTAGGGCCAGCTCGAGCCCGACTTACCCTGCCCCCTGCCCCCACCACCTCAGGCTCTCCAGGTTGCCCTCTGCCTCACCAGTGCCCAGCTGGCTTCTCCACGCTGCGGCTTGTGGCGCAGCTCACACTTCTGATTTATGTGCAGGCCTGGCTGCCATGGCTCCCAGCACAGCTGTAGGCAGCCTGCCTGGGGAGGGGCCGCTTCAGGGCTGGGGTCCATGGTCCGCAGCATGGGGGGCTCCAGTTTCACTGCAAGGAGTGGGGCTGTCAGAAGGTCTCCCTATCCCACCCTAGAGGGCTCTGCCTTAGCTCCCTCTTGTCTCCCTGTCTGTGGTTCACCATCTGTCCACGTTGCCAATGACACGTTTCTGTGGTTCGATCTCTATGTGTCTTTGTTTCTCTCTAGGTCTCTGTTTCCGCTCTTGCCCCAGGGCCTTTGCACTGGTTGTTACTTCTGCTTGAAATGTTTTCCCTCCAGATATCCAGCGGCTTGCTCCCTCATTTCCTTCAAGGATCTGCTCAATTGTCACCCTCTTAGTGAGGCCTTTCTTGACCAGCATATTAAAATAGCCAGTGCTCCCCTTCCCCCCTCTCTCTCTATGCCCTTCTCCTCCTTTAATTTCTCCTTTCTGCTTATTGCTATCTGAAATTCTATCTTATTTTCCCCCCCACTTGAATCTAACATTCTGAGGGCATTTTTGATGCTTTGTATCCCCAGTACCTAGAGCAGTGCCTAACATGTAGTGGGTGCTTTAGGAAACACGCTGAAAGCATGACTGAATGTGTCTCTTTGCCTCTGTGTCTCTTCCTGTCTCTGGGTCTGTGTCCCCATTTCTCTGTCTCCAGCTGCACCTTTCTTTGTCTCTGTCCCTCTTCTGTGCCTCTGTCTCTAGGTCTTCCAGTGTCTTCTTGTCTGTCGCTAGTTCTGTGTTTCCCTCTCCATTCCTCTCAGTGTCTGCCCATTTTGGGGATCCCCTCCCTCCCCTGCATCACCCACCAACATCCATGGGATCAAGACACAGTTGTGGGGACATGCTGGTCCCCAGCGCATTCTCTGCCTGCACCCAGATGCCCATATTCTGGTACAACAGCAGGTGTTTGCGTGGGATGCAGCAGTGGCTCTGCCCGTCCTTGGGCACGCAGTCCAGGATGGAGTCCCCTTGGGTCTGACAGTTGCCCCGGCTCCTGCCAATAGTCCAGGCTTGGGTGCCAAGCAGAGGAAGAAAGCGAGGCTCCCTTCTCCCTCCCAGAGGCATGCCCAGCATCCTACCCATGCCCTACCCCAGAATCCAAAGGGAGGGGACCAAGGTGGGGGCCCCTCCTCACTTGAAACTCTTCAGAGTGAAGCTGGTGGGTAGGTGGGTCTCAGGTCCTGGCTCCCACTGGCAGATGAGGCTGCTGGTTGTGAGGTTCATGAGGCAGGAGAGGTTGTGGGGTATGGCTGGAGGGTCTGCATGTGGGTGGGAAGAGTGTGAGGGCTTTGGGTGGGACCACTCAGAAAGCTTCCTCTGGGACCAGCTGGCCCTGTTGCCTTGCCCTGGCTTGGTTCCTCTGTTGTCACCTTGTCTGTCCCCCTGTCTCCAGGCAGAGTGGCTCTGGAAGGGCAGCCCTGGGGGAAGCTAAGTTGCAGGCATGCACCGGGGCAAGCATCACAGACTCCCAGCAGCCCAGTGGTGGCCCACTTCCAAGGCCCCCAACTCTAGACCCTTTGTCAGTGACAGTGTAGTGTTTGAGTTTTCATCCTGGTCCTGCCATTCATTAGCCCTGTGATCTTGAAGTTATTTAACTGCTCCATGCCTCAGCATCCTCATCTGTAAAATGGGGATAATGGTAAAATCCCACCCCCTAGCGTTATCACAAGGGCTAAATGACTCACTCTACATGAAGTGCTCAGAACAGTGCCTAACTTACAGGAAATGCTAT
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ACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCGCAGCCTCCCGACTAGCTGGGATTACAGGCAACCGCCACCATGCCCGGCTAATTTTTGTATTTGTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGACCTCCTGACCTCAGATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACTGGACTCCTTGATACATTTTAATTCACTGAGTCCTCTAATAGTCATACCCAGGAAGTACTACTCTTTTCCCCATTTTACTAATGAGAAAACTGAGAGACACAGAGAGGTTAAGAAACTTGTCTAAGATCACACAGCTAGTAAGTGGGAATATTAGCTATGATTATTGTTATTGTGATTATTAGTCCCACCTTGCGAGGACCAATGTTTAGGGAAAGCAGTGGGTGGTGGCAGCTGATTTCCTGAGAATGAGCAATGAACTCATAGACCAGGTTCCAAGTGGAAAAGCCTGGGGCTTTCTCTCTTGGCTTTCTTGGCAGAATGGGCTGTGAGTGTGTGTGTGTGTGAGAGAGAGAGCTTAACCTGGTCTGGCTAATGATAATAACAACAGCAGACACATGCAGAGCAGTTACTTTGTGCCAGGCACTTGTCTTAACTCATGTACACCCCATGGCACCGCTCAGTAGGTGCTGTTATCATCCCCATCTGCTGGATGTGTAAACAGAGGCCGGGGATGGGAGGTAACTTACTCAGGTCACACTGTTAGCAAGTGATAGGACTCGTTTTTTGTTTTTTTTTGTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCCAGGCTAGAGTGTAATGGCGTGATCTCAGCTTGCTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGTGCCCGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGGTTTCACCATGTAGGCCAGGCTGGTCTTGAACTCCTGACCTCGGATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAATAGGACTAGATTTAACCCAGGCAGTCTAGCCTTTGAATTGATGCGCTTGACCTCTGTGCTCTTCTGGCTGCCAGCCCCCTTTACCTCTGCTTTCTGAGAAGACCACCGGAGTGGGACGAGAGGTCCCGGCTGAGTTATAGGCCACAAGGGCCACCTCCTGGGCTTCTGAAGGCAGGTGGAAGGTGCAGCTGAGCTCTGTGGTGTTGCAGAGGGGCAGGATGGCCCCAGCCTGGCCTGAGGGTCTCCAAGAAACCACATAACCTTGGATCCGTCCGCTGTCTTCCTCCAGGGGCACTGGCTGTGGGGCACAGGAGGAAAAAGAGAAGGGGATGTGCAGCTCATCTTGAGTCAAGGAGAGCCTCTAGGTGGGGTGGATGGATCATACAAACGGAGCCTCCCCAGGCTGGGGTCCAGGCTTCTCACCCCCCTCCCCTTTTCCCTCTGTTCCCTTGTGCTAGGTTCTAGGAAGGAGGGCAGGAAGAAACAAGTTGGTGGACACAGCAGGCTCTTAACTATTCACTGAACCACACTGTGACGTGCGTTACAGTCTGTCCAAAAGCTAACTCAGCTCCCTAGGCACATGCAAAGTGCATGCAAATCACATATAAATGCGTCCACGCCTCCCAGACCTGTTGGAGTCCTAAGCCCCGGTTTGTAGGGATCTGTTTGGACTGCGGGAGGTGTCGAGGTGGAGGGATGGCCTTCAGAGGGAGTCACCTTCCAGAACAGCTGCACTGTCCTGGGGTCCAGCTGCCTCTGCCGCCACCATGTGTCCAGTCTGACAGTGGGGGCTGTGGATGGAACAAGAAGAGGGGGTGCCAGTTGGGGAGGGGCCTGGGGCCTGGACTGGATACTGTTGGCTGCTCCCAGCCTCTCATCACCTCCTTACCCCGTTCGGTAGTTCTCAGCTCCAGGCTGGGGCTCCAGTCGCTCCAGTGGCCAGGCAGGGGCCAGCGGATGCAGCATATCTGCAGGGTGTAGGCCGTGGCTGGGAGGAGCCCGCAGAGCTCATACTGAAGGGCCTCCAAGGGGAGGGGGCCCACCTGGTGAGGGGTGGACAGGACTCTGAGCCTTGGATCGCTGGGCCATTCTAGGGCCAGCTCGAGCCCGACTTACCCTGCCCCCTGCCCCCACCACCTCAGGCTCTCCAGGTTGCCCTCTGCCTCACCAGTGCCCAGCTGGCTTCTCCACGCTGCGGCTTGTGGCGCAGCTCACACTTCTGATTTATGTGCAGGCCTGGCTGCCATGGCTCCCAGCACAGCTGTAGGCAGCCTGCCTGGGGAGGGGCCGCTTCAGGGCTGGGGTCCATGGTCCGCAGCATGGGGGGCTCCAGTTTCACTGCAAGGAGTGGGGCTGTCAGAAGGTCTCCCTATCCCACCCTAGAGGGCTCTGCCTTAGCTCCCTCTTGTCTCCCTGTCTGTGGTTCACCATCTGTCCACGTTGCCAATGACACGTTTCTGTGGTTCGATCTCTATGTGTCTTTGTTTCTCTCTAGGTCTCTGTTTCCGCTCTTGCCCCAGGGCCTTTGCACTGGTTGTTACTTCTGCTTGAAATGTTTTCCCTCCAGATATCCAGCGGCTTGCTCCCTCATTTCCTTCAAGGATCTGCTCAATTGTCACCCTCTTAGTGAGGCCTTTCTTGACCAGCATATTAAAATAGCCAGTGCTCCCCTTCCCCCCTCTCTCTCTATGCCCTTCTCCTCCTTTAATTTCTCCTTTCTGCTTATTGCTATCTGAAATTCTATCTTATTTTCCCCCCCACTTGAATCTAACATTCTGAGGGCATTTTTGATGCTTTGTATCCCCAGTACCTAGAGCAGTGCCTAACATGTAGTGGGTGCTTTAGGAAACACGCTGAAAGCATGACTGAATGTGTCTCTTTGCCTCTGTGTCTCTTCCTGTCTCTGGGTCTGTGTCCCCATTTCTCTGTCTCCAGCTGCACCTTTCTTTGTCTCTGTCCCTCTTCTGTGCCTCTGTCTCTAGGTCTTCCAGTGTCTTCTTGTCTGTCGCTAGTTCTGTGTTTCCCTCTCCATTCCTCTCAGTGTCTGCCCATTTTGGGGATCCCCTCCCTCCCCTGCATCACCCACCAACATCCATGGGATCAAGACACAGTTGTGGGGACATGCTGGTCCCCAGCGCATTCTCTGCCTGCACCCAGATGCCCATATTCTGGTACAACAGCAGGTGTTTGCGTGGGATGCAGCAGTGGCTCTGCCCGTCCTTGGGCACGCAGTCCAGGATGGAGTCCCCTTGGGTCTGACAGTTGCCCCGGCTCCTGCCAATAGTCCAGGCTTGGGTGCCAAGCAGAGGAAGAAAGCGAGGCTCCCTTCTCCCTCCCAGAGGCATGCCCAGCATCCTACCCATGCCCTACCCCAGAATCCAAAGGGAGGGGACCAAGGTGGGGGCCCCTCCTCACTTGAAACTCTTCAGAGTGAAGCTGGTGGGTAGGTGGGTCTCAGGTCCTGGCTCCCACTGGCAGATGAGGCTGCTGGTTGTGAGGTTCATGAGGCAGGAGAGGTTGTGGGGTATGGCTGGAGGGTCTGCATGTGGGTGGGAAGAGTGTGAGGGCTTTGGGTGGGACCACTCAGAAAGCTTCCTCTGGGACCAGCTGGCCCTGTTGCCTTGCCCTGGCTTGGTTCCTCTGTTGTCACCTTGTCTGTCCCCCTGTCTCCAGGCAGAGTGGCTCTGGAAGGGCAGCCCTGGGGGAAGCTAAGTTGCAGGCATGCACCGGGGCAAGCATCACAGACTCCCAGCAGCCCAGTGGTGGCCCACTTCCAAGGCCCCCAACTCTAGACCCTTTGTCAGTGACAGTGTAGTGTTTGAGTTTTCATCCTGGTCCTGCCATTCATTAGCCCTGTGATCTTGAAGTTATTTAACTGCTCCATGCCTCAGCATCCTCATCTGTAAAATGGGGATAATGGTAAAATCCCACCCCCTAGCGTTATCACAAGGGCTAAATGACTCACTCTACATGAAGTGCTCAGAACAGTGCCTAACTTACAGGAAATGCTAT
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Task1_train_671
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The gene CSF3R (colony stimulating factor 3 receptor), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
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ACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCGCAGCCTCCCGACTAGCTGGGATTACAGGCAACCGCCACCATGCCCGGCTAATTTTTGTATTTGTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGACCTCCTGACCTCAGATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACTGGACTCCTTGATACATTTTAATTCACTGAGTCCTCTAATAGTCATACCCAGGAAGTACTACTCTTTTCCCCATTTTACTAATGAGAAAACTGAGAGACACAGAGAGGTTAAGAAACTTGTCTAAGATCACACAGCTAGTAAGTGGGAATATTAGCTATGATTATTGTTATTGTGATTATTAGTCCCACCTTGCGAGGACCAATGTTTAGGGAAAGCAGTGGGTGGTGGCAGCTGATTTCCTGAGAATGAGCAATGAACTCATAGACCAGGTTCCAAGTGGAAAAGCCTGGGGCTTTCTCTCTTGGCTTTCTTGGCAGAATGGGCTGTGAGTGTGTGTGTGTGTGAGAGAGAGAGCTTAACCTGGTCTGGCTAATGATAATAACAACAGCAGACACATGCAGAGCAGTTACTTTGTGCCAGGCACTTGTCTTAACTCATGTACACCCCATGGCACCGCTCAGTAGGTGCTGTTATCATCCCCATCTGCTGGATGTGTAAACAGAGGCCGGGGATGGGAGGTAACTTACTCAGGTCACACTGTTAGCAAGTGATAGGACTCGTTTTTTGTTTTTTTTTGTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCCAGGCTAGAGTGTAATGGCGTGATCTCAGCTTGCTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGTGCCCGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGGTTTCACCATGTAGGCCAGGCTGGTCTTGAACTCCTGACCTCGGATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAATAGGACTAGATTTAACCCAGGCAGTCTAGCCTTTGAATTGATGCGCTTGACCTCTGTGCTCTTCTGGCTGCCAGCCCCCTTTACCTCTGCTTTCTGAGAAGACCACCGGAGTGGGACGAGAGGTCCCGGCTGAGTTATAGGCCACAAGGGCCACCTCCTGGGCTTCTGAAGGCAGGTGGAAGGTGCAGCTGAGCTCTGTGGTGTTGCAGAGGGGCAGGATGGCCCCAGCCTGGCCTGAGGGTCTCCAAGAAACCACATAACCTTGGATCCGTCCGCTGTCTTCCTCCAGGGGCACTGGCTGTGGGGCACAGGAGGAAAAAGAGAAGGGGATGTGCAGCTCATCTTGAGTCAAGGAGAGCCTCTAGGTGGGGTGGATGGATCATACAAACGGAGCCTCCCCAGGCTGGGGTCCAGGCTTCTCACCCCCCTCCCCTTTTCCCTCTGTTCCCTTGTGCTAGGTTCTAGGAAGGAGGGCAGGAAGAAACAAGTTGGTGGACACAGCAGGCTCTTAACTATTCACTGAACCACACTGTGACGTGCGTTACAGTCTGTCCAAAAGCTAACTCAGCTCCCTAGGCACATGCAAAGTGCATGCAAATCACATATAAATGCGTCCACGCCTCCCAGACCTGTTGGAGTCCTAAGCCCCGGTTTGTAGGGATCTGTTTGGACTGCGGGAGGTGTCGAGGTGGAGGGATGGCCTTCAGAGGGAGTCACCTTCCAGAACAGCTGCACTGTCCTGGGGTCCAGCTGCCTCTGCCGCCACCATGTGTCCAGTCTGACAGTGGGGGCTGTGGATGGAACAAGAAGAGGGGGTGCCAGTTGGGGAGGGGCCTGGGGCCTGGACTGGATACTGTTGGCTGCTCCCAGCCTCTCATCACCTCCTTACCCCGTTCGGTAGTTCTCAGCTCCAGGCTGGGGCTCCAGTCGCTCCAGTGGCCAGGCAGGGGCCAGCGGATGCAGCGTATCTGCAGGGTGTAGGCCGTGGCTGGGAGGAGCCCGCAGAGCTCATACTGAAGGGCCTCCAAGGGGAGGGGGCCCACCTGGTGAGGGGTGGACAGGACTCTGAGCCTTGGATCGCTGGGCCATTCTAGGGCCAGCTCGAGCCCGACTTACCCTGCCCCCTGCCCCCACCACCTCAGGCTCTCCAGGTTGCCCTCTGCCTCACCAGTGCCCAGCTGGCTTCTCCACGCTGCGGCTTGTGGCGCAGCTCACACTTCTGATTTATGTGCAGGCCTGGCTGCCATGGCTCCCAGCACAGCTGTAGGCAGCCTGCCTGGGGAGGGGCCGCTTCAGGGCTGGGGTCCATGGTCCGCAGCATGGGGGGCTCCAGTTTCACTGCAAGGAGTGGGGCTGTCAGAAGGTCTCCCTATCCCACCCTAGAGGGCTCTGCCTTAGCTCCCTCTTGTCTCCCTGTCTGTGGTTCACCATCTGTCCACGTTGCCAATGACACGTTTCTGTGGTTCGATCTCTATGTGTCTTTGTTTCTCTCTAGGTCTCTGTTTCCGCTCTTGCCCCAGGGCCTTTGCACTGGTTGTTACTTCTGCTTGAAATGTTTTCCCTCCAGATATCCAGCGGCTTGCTCCCTCATTTCCTTCAAGGATCTGCTCAATTGTCACCCTCTTAGTGAGGCCTTTCTTGACCAGCATATTAAAATAGCCAGTGCTCCCCTTCCCCCCTCTCTCTCTATGCCCTTCTCCTCCTTTAATTTCTCCTTTCTGCTTATTGCTATCTGAAATTCTATCTTATTTTCCCCCCCACTTGAATCTAACATTCTGAGGGCATTTTTGATGCTTTGTATCCCCAGTACCTAGAGCAGTGCCTAACATGTAGTGGGTGCTTTAGGAAACACGCTGAAAGCATGACTGAATGTGTCTCTTTGCCTCTGTGTCTCTTCCTGTCTCTGGGTCTGTGTCCCCATTTCTCTGTCTCCAGCTGCACCTTTCTTTGTCTCTGTCCCTCTTCTGTGCCTCTGTCTCTAGGTCTTCCAGTGTCTTCTTGTCTGTCGCTAGTTCTGTGTTTCCCTCTCCATTCCTCTCAGTGTCTGCCCATTTTGGGGATCCCCTCCCTCCCCTGCATCACCCACCAACATCCATGGGATCAAGACACAGTTGTGGGGACATGCTGGTCCCCAGCGCATTCTCTGCCTGCACCCAGATGCCCATATTCTGGTACAACAGCAGGTGTTTGCGTGGGATGCAGCAGTGGCTCTGCCCGTCCTTGGGCACGCAGTCCAGGATGGAGTCCCCTTGGGTCTGACAGTTGCCCCGGCTCCTGCCAATAGTCCAGGCTTGGGTGCCAAGCAGAGGAAGAAAGCGAGGCTCCCTTCTCCCTCCCAGAGGCATGCCCAGCATCCTACCCATGCCCTACCCCAGAATCCAAAGGGAGGGGACCAAGGTGGGGGCCCCTCCTCACTTGAAACTCTTCAGAGTGAAGCTGGTGGGTAGGTGGGTCTCAGGTCCTGGCTCCCACTGGCAGATGAGGCTGCTGGTTGTGAGGTTCATGAGGCAGGAGAGGTTGTGGGGTATGGCTGGAGGGTCTGCATGTGGGTGGGAAGAGTGTGAGGGCTTTGGGTGGGACCACTCAGAAAGCTTCCTCTGGGACCAGCTGGCCCTGTTGCCTTGCCCTGGCTTGGTTCCTCTGTTGTCACCTTGTCTGTCCCCCTGTCTCCAGGCAGAGTGGCTCTGGAAGGGCAGCCCTGGGGGAAGCTAAGTTGCAGGCATGCACCGGGGCAAGCATCACAGACTCCCAGCAGCCCAGTGGTGGCCCACTTCCAAGGCCCCCAACTCTAGACCCTTTGTCAGTGACAGTGTAGTGTTTGAGTTTTCATCCTGGTCCTGCCATTCATTAGCCCTGTGATCTTGAAGTTATTTAACTGCTCCATGCCTCAGCATCCTCATCTGTAAAATGGGGATAATGGTAAAATCCCACCCCCTAGCGTTATCACAAGGGCTAAATGACTCACTCTACATGAAGTGCTCAGAACAGTGCCTAACTTACAGGAAATGCTAT
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ACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCGCAGCCTCCCGACTAGCTGGGATTACAGGCAACCGCCACCATGCCCGGCTAATTTTTGTATTTGTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGACCTCCTGACCTCAGATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACTGGACTCCTTGATACATTTTAATTCACTGAGTCCTCTAATAGTCATACCCAGGAAGTACTACTCTTTTCCCCATTTTACTAATGAGAAAACTGAGAGACACAGAGAGGTTAAGAAACTTGTCTAAGATCACACAGCTAGTAAGTGGGAATATTAGCTATGATTATTGTTATTGTGATTATTAGTCCCACCTTGCGAGGACCAATGTTTAGGGAAAGCAGTGGGTGGTGGCAGCTGATTTCCTGAGAATGAGCAATGAACTCATAGACCAGGTTCCAAGTGGAAAAGCCTGGGGCTTTCTCTCTTGGCTTTCTTGGCAGAATGGGCTGTGAGTGTGTGTGTGTGTGAGAGAGAGAGCTTAACCTGGTCTGGCTAATGATAATAACAACAGCAGACACATGCAGAGCAGTTACTTTGTGCCAGGCACTTGTCTTAACTCATGTACACCCCATGGCACCGCTCAGTAGGTGCTGTTATCATCCCCATCTGCTGGATGTGTAAACAGAGGCCGGGGATGGGAGGTAACTTACTCAGGTCACACTGTTAGCAAGTGATAGGACTCGTTTTTTGTTTTTTTTTGTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCCAGGCTAGAGTGTAATGGCGTGATCTCAGCTTGCTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGTGCCCGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGGTTTCACCATGTAGGCCAGGCTGGTCTTGAACTCCTGACCTCGGATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAATAGGACTAGATTTAACCCAGGCAGTCTAGCCTTTGAATTGATGCGCTTGACCTCTGTGCTCTTCTGGCTGCCAGCCCCCTTTACCTCTGCTTTCTGAGAAGACCACCGGAGTGGGACGAGAGGTCCCGGCTGAGTTATAGGCCACAAGGGCCACCTCCTGGGCTTCTGAAGGCAGGTGGAAGGTGCAGCTGAGCTCTGTGGTGTTGCAGAGGGGCAGGATGGCCCCAGCCTGGCCTGAGGGTCTCCAAGAAACCACATAACCTTGGATCCGTCCGCTGTCTTCCTCCAGGGGCACTGGCTGTGGGGCACAGGAGGAAAAAGAGAAGGGGATGTGCAGCTCATCTTGAGTCAAGGAGAGCCTCTAGGTGGGGTGGATGGATCATACAAACGGAGCCTCCCCAGGCTGGGGTCCAGGCTTCTCACCCCCCTCCCCTTTTCCCTCTGTTCCCTTGTGCTAGGTTCTAGGAAGGAGGGCAGGAAGAAACAAGTTGGTGGACACAGCAGGCTCTTAACTATTCACTGAACCACACTGTGACGTGCGTTACAGTCTGTCCAAAAGCTAACTCAGCTCCCTAGGCACATGCAAAGTGCATGCAAATCACATATAAATGCGTCCACGCCTCCCAGACCTGTTGGAGTCCTAAGCCCCGGTTTGTAGGGATCTGTTTGGACTGCGGGAGGTGTCGAGGTGGAGGGATGGCCTTCAGAGGGAGTCACCTTCCAGAACAGCTGCACTGTCCTGGGGTCCAGCTGCCTCTGCCGCCACCATGTGTCCAGTCTGACAGTGGGGGCTGTGGATGGAACAAGAAGAGGGGGTGCCAGTTGGGGAGGGGCCTGGGGCCTGGACTGGATACTGTTGGCTGCTCCCAGCCTCTCATCACCTCCTTACCCCGTTCGGTAGTTCTCAGCTCCAGGCTGGGGCTCCAGTCGCTCCAGTGGCCAGGCAGGGGCCAGCGGATGCAGCATATCTGCAGGGTGTAGGCCGTGGCTGGGAGGAGCCCGCAGAGCTCATACTGAAGGGCCTCCAAGGGGAGGGGGCCCACCTGGTGAGGGGTGGACAGGACTCTGAGCCTTGGATCGCTGGGCCATTCTAGGGCCAGCTCGAGCCCGACTTACCCTGCCCCCTGCCCCCACCACCTCAGGCTCTCCAGGTTGCCCTCTGCCTCACCAGTGCCCAGCTGGCTTCTCCACGCTGCGGCTTGTGGCGCAGCTCACACTTCTGATTTATGTGCAGGCCTGGCTGCCATGGCTCCCAGCACAGCTGTAGGCAGCCTGCCTGGGGAGGGGCCGCTTCAGGGCTGGGGTCCATGGTCCGCAGCATGGGGGGCTCCAGTTTCACTGCAAGGAGTGGGGCTGTCAGAAGGTCTCCCTATCCCACCCTAGAGGGCTCTGCCTTAGCTCCCTCTTGTCTCCCTGTCTGTGGTTCACCATCTGTCCACGTTGCCAATGACACGTTTCTGTGGTTCGATCTCTATGTGTCTTTGTTTCTCTCTAGGTCTCTGTTTCCGCTCTTGCCCCAGGGCCTTTGCACTGGTTGTTACTTCTGCTTGAAATGTTTTCCCTCCAGATATCCAGCGGCTTGCTCCCTCATTTCCTTCAAGGATCTGCTCAATTGTCACCCTCTTAGTGAGGCCTTTCTTGACCAGCATATTAAAATAGCCAGTGCTCCCCTTCCCCCCTCTCTCTCTATGCCCTTCTCCTCCTTTAATTTCTCCTTTCTGCTTATTGCTATCTGAAATTCTATCTTATTTTCCCCCCCACTTGAATCTAACATTCTGAGGGCATTTTTGATGCTTTGTATCCCCAGTACCTAGAGCAGTGCCTAACATGTAGTGGGTGCTTTAGGAAACACGCTGAAAGCATGACTGAATGTGTCTCTTTGCCTCTGTGTCTCTTCCTGTCTCTGGGTCTGTGTCCCCATTTCTCTGTCTCCAGCTGCACCTTTCTTTGTCTCTGTCCCTCTTCTGTGCCTCTGTCTCTAGGTCTTCCAGTGTCTTCTTGTCTGTCGCTAGTTCTGTGTTTCCCTCTCCATTCCTCTCAGTGTCTGCCCATTTTGGGGATCCCCTCCCTCCCCTGCATCACCCACCAACATCCATGGGATCAAGACACAGTTGTGGGGACATGCTGGTCCCCAGCGCATTCTCTGCCTGCACCCAGATGCCCATATTCTGGTACAACAGCAGGTGTTTGCGTGGGATGCAGCAGTGGCTCTGCCCGTCCTTGGGCACGCAGTCCAGGATGGAGTCCCCTTGGGTCTGACAGTTGCCCCGGCTCCTGCCAATAGTCCAGGCTTGGGTGCCAAGCAGAGGAAGAAAGCGAGGCTCCCTTCTCCCTCCCAGAGGCATGCCCAGCATCCTACCCATGCCCTACCCCAGAATCCAAAGGGAGGGGACCAAGGTGGGGGCCCCTCCTCACTTGAAACTCTTCAGAGTGAAGCTGGTGGGTAGGTGGGTCTCAGGTCCTGGCTCCCACTGGCAGATGAGGCTGCTGGTTGTGAGGTTCATGAGGCAGGAGAGGTTGTGGGGTATGGCTGGAGGGTCTGCATGTGGGTGGGAAGAGTGTGAGGGCTTTGGGTGGGACCACTCAGAAAGCTTCCTCTGGGACCAGCTGGCCCTGTTGCCTTGCCCTGGCTTGGTTCCTCTGTTGTCACCTTGTCTGTCCCCCTGTCTCCAGGCAGAGTGGCTCTGGAAGGGCAGCCCTGGGGGAAGCTAAGTTGCAGGCATGCACCGGGGCAAGCATCACAGACTCCCAGCAGCCCAGTGGTGGCCCACTTCCAAGGCCCCCAACTCTAGACCCTTTGTCAGTGACAGTGTAGTGTTTGAGTTTTCATCCTGGTCCTGCCATTCATTAGCCCTGTGATCTTGAAGTTATTTAACTGCTCCATGCCTCAGCATCCTCATCTGTAAAATGGGGATAATGGTAAAATCCCACCCCCTAGCGTTATCACAAGGGCTAAATGACTCACTCTACATGAAGTGCTCAGAACAGTGCCTAACTTACAGGAAATGCTAT
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Task1_train_672
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The gene YRDC (yrdC N6-threonylcarbamoyltransferase domain containing) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Galloway-Mowat syndrome 10
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TGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGATGTGTGAGAATCACTTGAACCTGGGAGGCGGAGTTTGCAGCGAGCCAAGATCGTGCCACTGCACTCCAGTGTGGGCAACAGAGATTCTGTCTCAAAAAAAAAAAAAAAAGACTGAATCAGAATTTTGGGAACTAGGGTACAAGAGGGAAGGGGAGGAAGGAGGAAATAGACCCCAGTGGTCACCTCAAGGACACCCAGCCCCAGTTAGGTAACTGATATTAAGCCCCACCAGAGAGATGAGCAGGCCTGGCCACCTGGCTTTGGGGCTTAGCTGGGGAAACCAAGGCAGGCAGGGACAGCTGAAAGGGTTGGATGTTGACCTGTAGTAATTTACAGAAGGTAGCAACACTGGCTTCATTTAACACACACACAATCTGAAAAATACTAAACATGGGAAGGCCAGGGGGCAGAGGCAGCCATTCTCACACACTGCTAACAGCAGTGTAACTTGACTCAGTTCTTTTGAAGGCTAATCCATACTGAGAGCCATAAATACTTCCTACACTTTGACCTACTCTCCTAAGGAAATAATTCAAAAGAAGAAAAACAAACCATTTACAAATATGTTTAATAGCAGCATTTCTTTAAAGAAAAACAAAGTTCAAATGCCCAATAATAATTATGTTTAACACTTGGTACACATATAAATAGACAAAAGGCTGCGGAGAACACTGGATTTAAATAAAGGTGTTATGGGTATAATTAACTATAATTTATTTTATGAATAAATAAGAAAAAAGTCCCTGGCTATAAAGGATAGTGGAGGTTTATTTCCCAATATTCTTCCATTTGGACTGAACCCCTGCCAACTAAGCAGACATCCCACTATTACACCAAAAAGACTGCTCTCCCTGCGAGCAATTACAATACATGACACCACTAGGCCCAATGGCTCAGAGGGAAGAGTGGCCTGTGGCTCTTCAATCTTTATCCAAACCTGGTTCTAGCTTCAGGAGCCTTTGGTCACCTGAGACTTTTTATTTATTAATTTTTATGAGACGGAGTATTGCTATGTTGCCCAGGCTGATTCTGAACTCCTGGGCTCAAGCAGTTCTCCCGCCTGGGCCTCCCAGAATGTTGGGATTACAGGCATGAGCCACCACACGCAGCCACCTGAGACTTTTTAAACAGCACCAGCACTTCTGGCTGGTTTGAACCTTAAATGCCACCACCCACCAGAGAGGAGGCTCTCACTAGATTCTAAATCTGTTATTTAATTACTTTTCAATTGAAAAACAAAACAGACAGAAGAAACTTATTAGAATAAGGCCACCTAGGAATGTTCTTAACTTTTCCATTCAGCTTTTGGCTGATATATGAAAATACAAATAAATACATCCTTTCCCCAGGTGCAAGGCTAAACCAGCAGCTCCAAGGGCTTGGTCTACAGTGCTCAGAAAGACACACTGCCTTAAAAGTCAGGCTAGTGCCCTAGCTCCGGTGGCCTCTGCAAATGAGGCCTTGACAGTCGTCAGTGGACAGACACATAGTATCCAGCACCAGGTCTTGGGCCTTCCTGCTTCCCAGAGTTTCACAGGTAGGACGCATGTGAGGGGAGCAGTCCGTACTTCTGTTGGAGGATGGCTGTAGTACTTTCCAGGGCACTGAGGAGGAAACAGGACAGTTACCAGTCTGACTTCTCAGAAGTCCCGAGCCCACCAGAGGCTGGTGAGCAGGGACATCGAAACTGGCTAGCCTTGTTAAGCCCTGTTCATCAACCCTTGATGAAACCTTTTGAATCCTAAGAAAGCCAGGAAACTTAGTCCCACTGCAACTACCACTTCTCCAAACCTGGCCCACACTCCTTCAGGGCAACATAGGAGGCACCATCTTTATCTTGTCAAAGCTTTTTTGCATCTCTCCAACCTCCCTCAAATTATTTCCCCACACCACAGGAAAGAGACTTACCAGCCTGGACGAATGATGCCAAACTTTCCGGGCACAGACAAATCAACCACAGTTGAGCCAAGGCGACACTCGGGGCTCTGGCCATCCCCAATTTGTCCCCCATCAATAACCAAGGACAACTGAGGCCAGAGATCCTGGAACTCCTGAGAAGAGGGAGAAGGAAGAGCATGGACACTATCCCTGGTGTATCCAATAATGTCAAACTGCACGCAGTCATCAAAGGCCATATAGTCTTAAAACAGAAGGCACTTTCCTCTAAGCAGAGAAAGGAGCTTCATTTAGTTAAGGTCAACTGTGCCAAAGACACTGTATTCTATGAGGTTTGGAGGCCTCCTGGGTTAGCACTCCAAGTAACACCTATCTAGGGTTTAAAGAAAATCTTGCTATGTCAAAAGGAAATTTCACACATTGCTTCAGTTAGGGAAATATAAGTACAATGAATGGAGTTCTGGGCAGAGATACGGGCTATAACTCTAGACTTTCCATCGTATCTCCGTGTGACTGCATGCAAGTTACTCTATCCAGGCCTACAAGACAAGTGGGCTGGACTAGATGATCCTATGTCCTCATTTCATTTGTTCTAATCTATGTAGCCAAGACAGGACTAGGATGATCTTTTCTTTGACCTGGCTTGCCGCAAAGATAAGAGAACAGGGTCAAGAGTCAAAAACTAGGTAAAAAGACCAGGCATGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGGATCTCTTGAGGCCAGGAGTTTGAGACTAGCCTGGTCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACACGCCTGTAATCCCAGCTACTCACTCGGGAGGCTGAGGCAGGAGAACTGTTTGAACCCGGGAGATGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAAGAGAGTGAGACTGTCTCAAACAAAACAAAACAAAAAAAAACTAGGTAAAAATCTGGTCACTTAATGGCTGCGTAACCTGGAACAAGTGATTCCAGCTCCTTCTAGCTCTAGAACTATGCTCCTGGATCTCACTGCGACTCTGATCAGGGTAGGAAGAGTAGAACATGGTAGATTCTGCATGCCACCAGCACTCAGTCTTTGGGCTATGAGAAGGATACTCCCCCTAGAGCAGTGGACTGAATTGTTAACTGAGCTAGAGCTTCCCCAACCCCCCAAGGAAGACACTGCAGTGGCAGTTAGGCCTGGAAATCTGGGACAGGAAATCATAAATACCAGTTACTGTGTTGGACAGGTCAAATGATTGCTGACAAGGTAAAAACCTCCCCTCCCTGTGCCACATCCCGATTCTTGCTCCTGGGGTACAGCCACCAGGACCAAGTCAAACCTGCACTCTGAGAATGGGAAGGGATGCTGAACTCTCACTTTCTAAGAACCCTGAGCCCCACTCTAGGTCTGGGAATGGAAAACCCATCGAATGGAGTTCTGAGCAGGGATACGGGCTCTAACTCTGGACTTTCCATCGTATCTCTATGTGACTGCACGCAAGTTACTCTATCCAGGCTTATTAGCTGGATGTAATAAGCCCAAGGAAGGCCCAAGGCCTGATGCTGGATACTATGTGTGATACTATGTGTCTGGCCGAGTCTGGGGACACAATGTAGCTTATTACTACGTTTTACATCTTAGTAATAAGAAAAAAAACGAAATTTCTATGTGTCCTCCTTTGTTCTAATCTATGTAGCCAAGAAAGGATTAGGATGATCCTTTCTTTGATCTGGCTTGTGGCAGAGATAAGAGAACAGGGGCGAGAATCAAAAACTGGTTAAAAATCTGAGTCAGTCACTTAATGGCTGTGTGACCTGGAACAAGTGATTTAACTTTCTGGAGGCTAAACTTCATCTTTTTTTTTTTTTTTAAGAGACAGAGTCTCGCTCTAGAGCCCTGCCTGGAGTACAGTGGCACAATCTGAGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGTCTGGCTAATCTTTGTATTTTTTATTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGGTCTCAAACTCCTGACCTCACATGATCCACCTGCTTGG
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TGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGATGTGTGAGAATCACTTGAACCTGGGAGGCGGAGTTTGCAGCGAGCCAAGATCGTGCCACTGCACTCCAGTGTGGGCAACAGAGATTCTGTCTCAAAAAAAAAAAAAAAAGACTGAATCAGAATTTTGGGAACTAGGGTACAAGAGGGAAGGGGAGGAAGGAGGAAATAGACCCCAGTGGTCACCTCAAGGACACCCAGCCCCAGTTAGGTAACTGATATTAAGCCCCACCAGAGAGATGAGCAGGCCTGGCCACCTGGCTTTGGGGCTTAGCTGGGGAAACCAAGGCAGGCAGGGACAGCTGAAAGGGTTGGATGTTGACCTGTAGTAATTTACAGAAGGTAGCAACACTGGCTTCATTTAACACACACACAATCTGAAAAATACTAAACATGGGAAGGCCAGGGGGCAGAGGCAGCCATTCTCACACACTGCTAACAGCAGTGTAACTTGACTCAGTTCTTTTGAAGGCTAATCCATACTGAGAGCCATAAATACTTCCTACACTTTGACCTACTCTCCTAAGGAAATAATTCAAAAGAAGAAAAACAAACCATTTACAAATATGTTTAATAGCAGCATTTCTTTAAAGAAAAACAAAGTTCAAATGCCCAATAATAATTATGTTTAACACTTGGTACACATATAAATAGACAAAAGGCTGCGGAGAACACTGGATTTAAATAAAGGTGTTATGGGTATAATTAACTATAATTTATTTTATGAATAAATAAGAAAAAAGTCCCTGGCTATAAAGGATAGTGGAGGTTTATTTCCCAATATTCTTCCATTTGGACTGAACCCCTGCCAACTAAGCAGACATCCCACTATTACACCAAAAAGACTGCTCTCCCTGCGAGCAATTACAATACATGACACCACTAGGCCCAATGGCTCAGAGGGAAGAGTGGCCTGTGGCTCTTCAATCTTTATCCAAACCTGGTTCTAGCTTCAGGAGCCTTTGGTCACCTGAGACTTTTTATTTATTAATTTTTATGAGACGGAGTATTGCTATGTTGCCCAGGCTGATTCTGAACTCCTGGGCTCAAGCAGTTCTCCCGCCTGGGCCTCCCAGAATGTTGGGATTACAGGCATGAGCCACCACACGCAGCCACCTGAGACTTTTTAAACAGCACCAGCACTTCTGGCTGGTTTGAACCTTAAATGCCACCACCCACCAGAGAGGAGGCTCTCACTAGATTCTAAATCTGTTATTTAATTACTTTTCAATTGAAAAACAAAACAGACAGAAGAAACTTATTAGAATAAGGCCACCTAGGAATGTTCTTAACTTTTCCATTCAGCTTTTGGCTGATATATGAAAATACAAATAAATACATCCTTTCCCCAGGTGCAAGGCTAAACCAGCAGCTCCAAGGGCTTGGTCTACAGTGCTCAGAAAGACACACTGCCTTAAAAGTCAGGCTAGTGCCCTAGCTCCGGTGGCCTCTGCAAATGAGGCCTTGACAGTCGTCAGTGGACAGACACATAGTATCCAGCACCAGGTCTTGGGCCTTCCTGCTTCCCAGAGTTTCACAGGTAGGACGCATGTGAGGGGAGCAGTCCGTACTTCTGTTGGAGGATGGCTGTAGTACTTTCCAGGGCACTGAGGAGGAAACAGGACAGTTACCAGTCTGACTTCTCAGAAGTCCCGAGCCCACCAGAGGCTGGTGAGCAGGGACATCGAAACTGGCTAGCCTTGTTAAGCCCTGTTCATCAACCCTTGATGAAACCTTTTGAATCCTAAGAAAGCCAGGAAACTTAGTCCCACTGCAACTACCACTTCTCCAAACCTGGCCCACACTCCTTCAGGGCAACATAGGAGGCACCATCTTTATCTTGTCAAAGCTTTTTTGCATCTCTCCAACCTCCCTCAAATTATTTCCCCACACCACAGGAAAGAGACTTACCAGCCTGGACGAATGATGCCAAACTTTCCGGGCACAGACAAATCAACCACAGTTGAGCCAAGGCGACACTCGGGGCTCTGGCCATCCCCAATTTGTCCCCCATCAGTAACCAAGGACAACTGAGGCCAGAGATCCTGGAACTCCTGAGAAGAGGGAGAAGGAAGAGCATGGACACTATCCCTGGTGTATCCAATAATGTCAAACTGCACGCAGTCATCAAAGGCCATATAGTCTTAAAACAGAAGGCACTTTCCTCTAAGCAGAGAAAGGAGCTTCATTTAGTTAAGGTCAACTGTGCCAAAGACACTGTATTCTATGAGGTTTGGAGGCCTCCTGGGTTAGCACTCCAAGTAACACCTATCTAGGGTTTAAAGAAAATCTTGCTATGTCAAAAGGAAATTTCACACATTGCTTCAGTTAGGGAAATATAAGTACAATGAATGGAGTTCTGGGCAGAGATACGGGCTATAACTCTAGACTTTCCATCGTATCTCCGTGTGACTGCATGCAAGTTACTCTATCCAGGCCTACAAGACAAGTGGGCTGGACTAGATGATCCTATGTCCTCATTTCATTTGTTCTAATCTATGTAGCCAAGACAGGACTAGGATGATCTTTTCTTTGACCTGGCTTGCCGCAAAGATAAGAGAACAGGGTCAAGAGTCAAAAACTAGGTAAAAAGACCAGGCATGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGGATCTCTTGAGGCCAGGAGTTTGAGACTAGCCTGGTCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACACGCCTGTAATCCCAGCTACTCACTCGGGAGGCTGAGGCAGGAGAACTGTTTGAACCCGGGAGATGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAAGAGAGTGAGACTGTCTCAAACAAAACAAAACAAAAAAAAACTAGGTAAAAATCTGGTCACTTAATGGCTGCGTAACCTGGAACAAGTGATTCCAGCTCCTTCTAGCTCTAGAACTATGCTCCTGGATCTCACTGCGACTCTGATCAGGGTAGGAAGAGTAGAACATGGTAGATTCTGCATGCCACCAGCACTCAGTCTTTGGGCTATGAGAAGGATACTCCCCCTAGAGCAGTGGACTGAATTGTTAACTGAGCTAGAGCTTCCCCAACCCCCCAAGGAAGACACTGCAGTGGCAGTTAGGCCTGGAAATCTGGGACAGGAAATCATAAATACCAGTTACTGTGTTGGACAGGTCAAATGATTGCTGACAAGGTAAAAACCTCCCCTCCCTGTGCCACATCCCGATTCTTGCTCCTGGGGTACAGCCACCAGGACCAAGTCAAACCTGCACTCTGAGAATGGGAAGGGATGCTGAACTCTCACTTTCTAAGAACCCTGAGCCCCACTCTAGGTCTGGGAATGGAAAACCCATCGAATGGAGTTCTGAGCAGGGATACGGGCTCTAACTCTGGACTTTCCATCGTATCTCTATGTGACTGCACGCAAGTTACTCTATCCAGGCTTATTAGCTGGATGTAATAAGCCCAAGGAAGGCCCAAGGCCTGATGCTGGATACTATGTGTGATACTATGTGTCTGGCCGAGTCTGGGGACACAATGTAGCTTATTACTACGTTTTACATCTTAGTAATAAGAAAAAAAACGAAATTTCTATGTGTCCTCCTTTGTTCTAATCTATGTAGCCAAGAAAGGATTAGGATGATCCTTTCTTTGATCTGGCTTGTGGCAGAGATAAGAGAACAGGGGCGAGAATCAAAAACTGGTTAAAAATCTGAGTCAGTCACTTAATGGCTGTGTGACCTGGAACAAGTGATTTAACTTTCTGGAGGCTAAACTTCATCTTTTTTTTTTTTTTTAAGAGACAGAGTCTCGCTCTAGAGCCCTGCCTGGAGTACAGTGGCACAATCTGAGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGTCTGGCTAATCTTTGTATTTTTTATTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGGTCTCAAACTCCTGACCTCACATGATCCACCTGCTTGG
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Task1_train_673
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Gene YRDC, C1orf122, LOC129930167 (yrdC N6-threonylcarbamoyltransferase domain containing| chromosome 1 open reading frame 122| ATAC-STARR-seq lymphoblastoid silent region 680), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Galloway-Mowat syndrome 10
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AGCCCAAGGAAGGCCCAAGGCCTGATGCTGGATACTATGTGTGATACTATGTGTCTGGCCGAGTCTGGGGACACAATGTAGCTTATTACTACGTTTTACATCTTAGTAATAAGAAAAAAAACGAAATTTCTATGTGTCCTCCTTTGTTCTAATCTATGTAGCCAAGAAAGGATTAGGATGATCCTTTCTTTGATCTGGCTTGTGGCAGAGATAAGAGAACAGGGGCGAGAATCAAAAACTGGTTAAAAATCTGAGTCAGTCACTTAATGGCTGTGTGACCTGGAACAAGTGATTTAACTTTCTGGAGGCTAAACTTCATCTTTTTTTTTTTTTTTAAGAGACAGAGTCTCGCTCTAGAGCCCTGCCTGGAGTACAGTGGCACAATCTGAGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGTCTGGCTAATCTTTGTATTTTTTATTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGGTCTCAAACTCCTGACCTCACATGATCCACCTGCTTGGGCCTCCCAAAGTGCTGGGGTCACAGGCATGAGCCACTGCCCTTGGCCTTCTTCATCTTTCTTTACAGCACTGTCGTGAAGATTTATAGCCTAACTGTGTTCTCCAGAAACTGTTATCTCCAGAAAAACAGGAAGACATTGTTCTTATAATCTTTCCTATTATTATAAAGACTGAAGAAAAGACCAATTCTCCCCCTGGCTTTTCAGACTTTGAGATAAAATCTTTCAAATTTTTTTAATTTATATTGCCCCCCACCACCTCCCTGCCAGCTGGGCAACCTTCCCACTGTTGGCCCAAGAACTCTCATGCCTGGCCATCCCAGTGTACTATCAATGCCACTGATTCACAGAAAACAGTATGTGCGCTGGTGACATTTCCAGGGGAAGGACTGGGTAAACTCACCTCGACATTCAGAGAACTGGCCTGGGAGCTGAGGTTGGCACTAGTGAGAGCAAGCGGACCCTCAAACATCTGAGCCAAGTCTTGCATAAAAGCATGATCAGGAATCCGAATGCCTACAAGCTGTAAGGCAAGGGGAAAGGGATCATGAGAAAGGTTGGAAGGGATAAGAGGGTAAGTCTTATCTGGATCCTAGTGAAAGCCAAGTGGCCTGGAGTCTGGGGACACAAGAGAAAACTTGACTCACAGGCGTAAAAGGGTTTAGGTCCTTGTTGAGCTCCTCCGAGCGTTCCATCACCAGGGTCACTGGTCCTGGCAGTAGGTCTTTCAGGAGCCCCTCAGGTACTCTCACACGGCAGTATCTGGGAAACACAGAAGAATAAATCCATTCAAAATTGAAGGGCCACTGGTGGTCCTTTCCTAGACTCTAGGCAGACGTAGAAAAGGAATCCTTCGAGTTTACAATGGGAGCCGCCTGTCTCCCTGCTTCACCTCCCTAAGAGCTTGAGCAGAAAGCAGGGCTCCAGAGGCGCACCCCTGGCTTGACGCCCATGTGCCTCTGGTCTCAGGGACTACAACAGCTGCACCGCTGTGATATCATGATAGTGGGATCAAGCTCCACGTTTTATTTTCTTCAAGGCATTCGCTATTAAATTAAGCTACTGTGTTTGTTTGCTTTTTTCCCGGGGGCCTCCCCAATTAGCACAAATACGCCAAGGGAACAGGGTCCCTGCCTTTCTCGTGTGTTGCTGCTTCCCAGCAGCATGTAGTTCAGGGCCCGGGGCACGTTAAGTCCTCGGTACATATTTCCAGTTCCGGATTCCTTGGTGAGCCTGGACAAGCCCCTCCCGCTCTCTGCGCCTCAGTCTCCCAAGCCTGTCACCGGAAACCCCTCCCGCGGTGCCGCCCCTAGCGGGGCCGGGTCGGGGCGGCCTTACCTGTAGACGTCGGCCACGCGGCCGAGGCATACGGCCAGAGGCTTGGCCTCGCTGCGACCCTTGAGGCGGTACACAGCGCGCAGAGCCGCCGAGCAGCTCGCCGCGCAGGCCAGGCCGTACAGCGTATCGGTGGGGACGGCCACCACGGCGCCGGCGCGCAGCTCGGCCACGGCGGCCCGCAGCGCCTCGGTCCAGCCGGCGCGCTCCGGGCTCGCGGCCTGCACGGCCCCGCTCCCCGGGAGCCGCAACAGCCGGGCGCCGGGGGCCGCCGGAGCGGGACTCGGCGGGCGGAAGAGGCGACCGCTCCGGGAGCCAGCAGGCCCCTCGCTCAACCCCACGCTGGCAGCCACCGCGGCCCTCATCCCCCTGCACCGACGCGCCGGAGACATCCGCCCAGGCCCGCTTCCGGGAGGAAGTGACGCTCCCAGCCAGCTTCCGGTCCAGGAGACTCGGCCCCGCCTCTGCGCCGGGCAGCTTAAAGGGACCACGACCCCCAGGAGGATTGAAGGAGACCGGTGGGGACGGGGCGGGGCGCAGCCTTGCGAAGCCCTAACGCAGCGCTGGGGAGGGGGGCGGCCGAAAGGGGGGCGGTGGTCGGGCCGCGCAAGCGGAGATGGAATGGGGCCCGGGCTCAGACTGGTCACGGGGGTGAGAGGGGGCCCGTCGGGGCGGGAGGAAGGGGCTTGGCCCCGCGCAAGCGCCGGCCCTGACCGTCTGTCTCTCGCTCTCTCCCGGGCAGGGAGGCTGCCGGCGTGGACCGCGGGAAGGCGGGGCTGGGGCTCGGCGGGAGGCCACCCCCACAGCCGCCCCGGGAGGAGCGCGCCCAGCAGCTGCTGGACGCGGTGGAGCAGCGGCAGCGGCAGCTCCTGGACACCATCGCAGCCTGCGAGGAGATGTTACGGCAGCTGGGCCGCCGGCGCCCGGAGCCGGCTGGTGGCGGGGTTAGTGCCCACCCTGGGCTGGGCTGGGGTGGGGTGGGGTCTGCCCACTGGCTAGGCTGGCCAAGCCCTAGCTTACCCTGGAGGGGGGAAGTATGTCTCCGCCGCTTTATCCCTAACCTCCTTTGATCTGGTGAGAGGTTTCGAAAAAGTTAATACTATCCAAATGCCAAATGGCCACATCCTTGTGGGGCCTAATCCAAGGCCTTGCCTCCCAGCCTCACTTTTTTCCTTTCTGTTCCAACTAGAACGTCTCAGCCAAACCTGGAGCGCCCCCCCAGCCGGCTGTCTCCGCCAGAGGCGGCTTTCCAAAGGATGCTGGCGATGGAGCTGCGGAGCCCTGACCATCCCCGAGCAGAATACCCTGACTTCTCTCCCTCCCCAGGGCCGGTGGCTGGACTCTGAACAACTCCCTTCAGTAAAGGGGCCAGTCTTCACTGGCAGTGGCTGGTACTTGGCTCTCAGCCTGGAGTGGCAGCTCTGCTAGCAGCTGGGTTCACTCCCACTTCATCCTGGCTGAAAGCAGTGCTGTGCTTTGAAATGCAGCCAATGAATACCCAGTCTGATTACCCAGATTTGGGCAGACCAGCAGTGCTCGCCAGAGTGGTCTGGCCTGCTATGGGGGATCCAGGTGGTGTTACATGTCCATTTCATGTTTTGGGGGCTTTTAGCCCCACAAAACACCTTCAGTAGAGCCTTGATTAAAAGGAAACCTGCAGACTCTCCTGGTGACCGACGTTTCCTTTCTGTCCCCTCTCCAAGACTGATGGCTGGGAAGGGGGGAGTGGTGGAAAAATGTCAACTATGGGCAGGGTTGGTAAGAAATGCCACAGATACTACCAGATTTAAATAAGCATTTAATTAGGATTTCATTAGTATTTAATATTGCTTTTTCAATTCCAAAAAGTTAAATTTTCACTTTTTAGCAGATATTTTAAAGTACAATATTAAGTTTATACAAAATGAGCAATTAAGCAAACACCATTATTTCACATTCTTCAAAAATACAAATTCATATTTATTCTTTTTTGGGTTTGGAGGTTTCTTCCTTTGGAAGTACTGAACCTGTAACGTTTTCACATCGCTCAGTGGAAGTCCGTTGTTCCCATGTTTCACACTTACTTTTACATAATCCAAATAAAACTATTTGGGATTTTAAAAGTTGTCACCAAGACCCCGGCCAATGATTAGTGTATGTCAAAAAAAAGGGCTCTTGGGGGCTCTTGCCTTTCCTGGCTAGAAGATCTG
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AGCCCAAGGAAGGCCCAAGGCCTGATGCTGGATACTATGTGTGATACTATGTGTCTGGCCGAGTCTGGGGACACAATGTAGCTTATTACTACGTTTTACATCTTAGTAATAAGAAAAAAAACGAAATTTCTATGTGTCCTCCTTTGTTCTAATCTATGTAGCCAAGAAAGGATTAGGATGATCCTTTCTTTGATCTGGCTTGTGGCAGAGATAAGAGAACAGGGGCGAGAATCAAAAACTGGTTAAAAATCTGAGTCAGTCACTTAATGGCTGTGTGACCTGGAACAAGTGATTTAACTTTCTGGAGGCTAAACTTCATCTTTTTTTTTTTTTTTAAGAGACAGAGTCTCGCTCTAGAGCCCTGCCTGGAGTACAGTGGCACAATCTGAGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGTCTGGCTAATCTTTGTATTTTTTATTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGGTCTCAAACTCCTGACCTCACATGATCCACCTGCTTGGGCCTCCCAAAGTGCTGGGGTCACAGGCATGAGCCACTGCCCTTGGCCTTCTTCATCTTTCTTTACAGCACTGTCGTGAAGATTTATAGCCTAACTGTGTTCTCCAGAAACTGTTATCTCCAGAAAAACAGGAAGACATTGTTCTTATAATCTTTCCTATTATTATAAAGACTGAAGAAAAGACCAATTCTCCCCCTGGCTTTTCAGACTTTGAGATAAAATCTTTCAAATTTTTTTAATTTATATTGCCCCCCACCACCTCCCTGCCAGCTGGGCAACCTTCCCACTGTTGGCCCAAGAACTCTCATGCCTGGCCATCCCAGTGTACTATCAATGCCACTGATTCACAGAAAACAGTATGTGCGCTGGTGACATTTCCAGGGGAAGGACTGGGTAAACTCACCTCGACATTCAGAGAACTGGCCTGGGAGCTGAGGTTGGCACTAGTGAGAGCAAGCGGACCCTCAAACATCTGAGCCAAGTCTTGCATAAAAGCATGATCAGGAATCCGAATGCCTACAAGCTGTAAGGCAAGGGGAAAGGGATCATGAGAAAGGTTGGAAGGGATAAGAGGGTAAGTCTTATCTGGATCCTAGTGAAAGCCAAGTGGCCTGGAGTCTGGGGACACAAGAGAAAACTTGACTCACAGGCGTAAAAGGGTTTAGGTCCTTGTTGAGCTCCTCCGAGCGTTCCATCACCAGGGTCACTGGTCCTGGCAGTAGGTCTTTCAGGAGCCCCTCAGGTACTCTCACACGGCAGTATCTGGGAAACACAGAAGAATAAATCCATTCAAAATTGAAGGGCCACTGGTGGTCCTTTCCTAGACTCTAGGCAGACGTAGAAAAGGAATCCTTCGAGTTTACAATGGGAGCCGCCTGTCTCCCTGCTTCACCTCCCTAAGAGCTTGAGCAGAAAGCAGGGCTCCAGAGGCGCACCCCTGGCTTGACGCCCATGTGCCTCTGGTCTCAGGGACTACAACAGCTGCACCGCTGTGATATCATGATAGTGGGATCAAGCTCCACGTTTTATTTTCTTCAAGGCATTCGCTATTAAATTAAGCTACTGTGTTTGTTTGCTTTTTTCCCGGGGGCCTCCCCAATTAGCACAAATACGCCAAGGGAACAGGGTCCCTGCCTTTCTCGTGTGTTGCTGCTTCCCAGCAGCATGTAGTTCAGGGCCCGGGGCACGTTAAGTCCTCGGTACATATTTCCAGTTCCGGATTCCTTGGTGAGCCTGGACAAGCCCCTCCCGCTCTCTGCGCCTCAGTCTCCCAAGCCTGTCACCGGAAACCCCTCCCGCGGTGCCGCCCCTAGCGGGGCCGGGTCGGGGCGGCCTTACCTGTAGACGTCGGCCACGCGGCCGAGGCATACGGCCAGAGGCTTGGCCTCGCTGCGACCCTTGAGGCGGTACACAGCGCGCAGAGCCGCCGAGCAGCTCGCCGCGCAGGCCAGGCCGTACAGCGTATCGGTGGGGACGACCACCACGGCGCCGGCGCGCAGCTCGGCCACGGCGGCCCGCAGCGCCTCGGTCCAGCCGGCGCGCTCCGGGCTCGCGGCCTGCACGGCCCCGCTCCCCGGGAGCCGCAACAGCCGGGCGCCGGGGGCCGCCGGAGCGGGACTCGGCGGGCGGAAGAGGCGACCGCTCCGGGAGCCAGCAGGCCCCTCGCTCAACCCCACGCTGGCAGCCACCGCGGCCCTCATCCCCCTGCACCGACGCGCCGGAGACATCCGCCCAGGCCCGCTTCCGGGAGGAAGTGACGCTCCCAGCCAGCTTCCGGTCCAGGAGACTCGGCCCCGCCTCTGCGCCGGGCAGCTTAAAGGGACCACGACCCCCAGGAGGATTGAAGGAGACCGGTGGGGACGGGGCGGGGCGCAGCCTTGCGAAGCCCTAACGCAGCGCTGGGGAGGGGGGCGGCCGAAAGGGGGGCGGTGGTCGGGCCGCGCAAGCGGAGATGGAATGGGGCCCGGGCTCAGACTGGTCACGGGGGTGAGAGGGGGCCCGTCGGGGCGGGAGGAAGGGGCTTGGCCCCGCGCAAGCGCCGGCCCTGACCGTCTGTCTCTCGCTCTCTCCCGGGCAGGGAGGCTGCCGGCGTGGACCGCGGGAAGGCGGGGCTGGGGCTCGGCGGGAGGCCACCCCCACAGCCGCCCCGGGAGGAGCGCGCCCAGCAGCTGCTGGACGCGGTGGAGCAGCGGCAGCGGCAGCTCCTGGACACCATCGCAGCCTGCGAGGAGATGTTACGGCAGCTGGGCCGCCGGCGCCCGGAGCCGGCTGGTGGCGGGGTTAGTGCCCACCCTGGGCTGGGCTGGGGTGGGGTGGGGTCTGCCCACTGGCTAGGCTGGCCAAGCCCTAGCTTACCCTGGAGGGGGGAAGTATGTCTCCGCCGCTTTATCCCTAACCTCCTTTGATCTGGTGAGAGGTTTCGAAAAAGTTAATACTATCCAAATGCCAAATGGCCACATCCTTGTGGGGCCTAATCCAAGGCCTTGCCTCCCAGCCTCACTTTTTTCCTTTCTGTTCCAACTAGAACGTCTCAGCCAAACCTGGAGCGCCCCCCCAGCCGGCTGTCTCCGCCAGAGGCGGCTTTCCAAAGGATGCTGGCGATGGAGCTGCGGAGCCCTGACCATCCCCGAGCAGAATACCCTGACTTCTCTCCCTCCCCAGGGCCGGTGGCTGGACTCTGAACAACTCCCTTCAGTAAAGGGGCCAGTCTTCACTGGCAGTGGCTGGTACTTGGCTCTCAGCCTGGAGTGGCAGCTCTGCTAGCAGCTGGGTTCACTCCCACTTCATCCTGGCTGAAAGCAGTGCTGTGCTTTGAAATGCAGCCAATGAATACCCAGTCTGATTACCCAGATTTGGGCAGACCAGCAGTGCTCGCCAGAGTGGTCTGGCCTGCTATGGGGGATCCAGGTGGTGTTACATGTCCATTTCATGTTTTGGGGGCTTTTAGCCCCACAAAACACCTTCAGTAGAGCCTTGATTAAAAGGAAACCTGCAGACTCTCCTGGTGACCGACGTTTCCTTTCTGTCCCCTCTCCAAGACTGATGGCTGGGAAGGGGGGAGTGGTGGAAAAATGTCAACTATGGGCAGGGTTGGTAAGAAATGCCACAGATACTACCAGATTTAAATAAGCATTTAATTAGGATTTCATTAGTATTTAATATTGCTTTTTCAATTCCAAAAAGTTAAATTTTCACTTTTTAGCAGATATTTTAAAGTACAATATTAAGTTTATACAAAATGAGCAATTAAGCAAACACCATTATTTCACATTCTTCAAAAATACAAATTCATATTTATTCTTTTTTGGGTTTGGAGGTTTCTTCCTTTGGAAGTACTGAACCTGTAACGTTTTCACATCGCTCAGTGGAAGTCCGTTGTTCCCATGTTTCACACTTACTTTTACATAATCCAAATAAAACTATTTGGGATTTTAAAAGTTGTCACCAAGACCCCGGCCAATGATTAGTGTATGTCAAAAAAAAGGGCTCTTGGGGGCTCTTGCCTTTCCTGGCTAGAAGATCTG
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Task1_train_674
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Given this variant in gene MACF1 (microtubule actin crosslinking factor 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Lissencephaly
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CAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTGGTGACAGGCGCTTGTATTCCCAGCTACTCTGGAAGCTGAGGCAGGAGAATCACTTGAACCAGGGAGACGGAAGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATCTATAACCGCCAACCGAACAAGTACCCCTCTTAATGTTTCAAAATATGATTCCTTTTCTCCAGAGTTCCCCACCACCAAGTTAGAGATGACTGCTGTGGCTGACATTTTCGACCGAGATGGGGATGGTTACATTGATTATTATGAATTTGTGGCTGCTCTTCATCCCAACAAGGATGCGTATCGACCAACAACCGATGCAGATAAAATCGAAGATGAGGTAAGGGAAATAATTATATTTTGAGTACACTTCTGGCTGTAGGTTTGTAATATCCTGAATTTGGTTGGGTTCAGTGATCATATTAGCCTTTGACTTGTCTGTTGGGAGATAATTATTTGGAGTTCTATTTTGAGATCTCTTTTTGGATAGCATTTCAAAGAGTCCCAGAGGATCTCTGACATCTGAGCTCTAGCTCAGGCTAGATGGATTACTCAAGTGAGTCATGTCTGTGTGGTGCTCTGAAGTTTACAGAGAACCTTTGCAGGGCAGCATACTCATCCTGGTTCACTCGTCCTGTGTTTGGGATGGACTCATCTCACTCTTGAGCATGCTGCCTGGAATCTAGGGAAATGGTCTACCAGTGTAGCATTTAAGGGTTGAAATGGACTGGGCATGGTGGCTTACATCTGTAGCTCTAGCACTTTGGGAGGCCAACACGGGAGGATCACTGGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGTATGATTCTGTCTGTCCCCCCCGCCAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCAAGTGCTTGTAGCCCCAGCTACTCAGGAGACTGAGGTGGAAGGATCACTTGAGCATGGGAGATCAAAGGTGTGGTAAGCTGTGATCATGCCACTACACTCCAGCCTGGGCAACAGAGCAAGACTTGTCTTAAAAAATAAAAACAAATGTTTAAAAGGGGAGTAAAATGTAATGTTTAAAATGGTGTATACCCATCATGCTTTCTGCCTTGTTAAGAACTACCACATTGAAACTGCCAAATTTATTAGTGCCATCTAGAAACCCTAACATCTGTTGATAACAGATCTTGGTAAGGGAGAGGTGCTGGGACAGGTCTTAGGAGTGGCCCTGGAACACACCAGGACTGACTTCCAGGGAATCTTGGGCTCCTAGGGTGAAATTTAAAGCAGTTCATAATTTGCTTTATTAATAATTTGATTTTGATGCAAGCATATTAGCACTTTTCTCTGAAGGAGTTTTGAAGCAGGAATAAAGAATGTGTTGTATAGTCACTTGGGAATTTTCTTTCATGCCTTTTCTCAGTGTCTCAATTAGTTCACTTAGTAAGAAGAACATATACTAATTTGGAACAGACAATAAATGTATATGTCAAAAGCCTGAAATGCCTAAAAAGTAAATAATGAGCTGTGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCAAGGCCAGCCTGACCAACATGAAGAAACCCCATCTCTACTAAAAAAATACAAAAAATTAGCTGGGCCTGGTGGTGCGTGCCTATAATCCCAGCCACTTGGGGGGCTGAGGTAGGAGAATTGTTTGAACCAGGAGGCGGAGGTTGTGGTGGAGCCGAGATCGCACCATTGCCCTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAATGTAAATAATGAATAGCCTCCCTGTTAATGTATAAAAATCTTTGTTTCTCTGAATAGGAAGTTTTGCTCTACCCTTTACACTTTCCTTTTTGTTCACACCCAATAGGTTACAAGACAAGTGGCTCAGTGCAAATGTGCAAAAAGGTTTCAGGTGGAGCAGATCGGAGAGAATAAATACCGGGTAAGGAAGAGAAAAAGCAGTCCTTTGTTGTGGTGGTTTCTCATATGTGGCTGATCCCACCTTTTCCTCCTGATGCTTAGAGGCCCAGAGCCCATCGGACTTGAGATGTGGTCACTCTCTGACCTCATCTCTATAGATGCCAAGTGTCAGGTACCCTGTTACATCTGAAAACTAGTCCCATATCTACCTAGATAGTAGTAGTTTGTATTTAAGTTTTAAGATAGGAGATATTTCAGAGCTGTCACTTCACATCTGACAAAGTTCCTAGGGGGATGAAGGTACCTTTGGAAACAATTATATCTATTGACTGACCACTTGCCCACAAAGAGATGGTCATTGTGAGCCTGAGTGGCTCCCAGGCTAGAGAGGCCTGGGGAAACTGTGTTGAAGCCCCAACAGACACTGTGCCTGCTCTGAGCTGGGCTACAAATGGGGCCCAGGAGCACTGAGGAGACATCAGGCTCAGTGGTCTTCCCTGGAAAGCCATGCTAGGTGTGGCCATAACTGACAGTGAACTATACTTGTGTTTTAGCTTCTTTTGGGACCAGGGTCAGGGACATAGAAGGATCTGAAACAGGTCTCCTAAAATATATCAACAGCTCGTCAAGATTCTCTAAAGTCCTAAGAAAAATCTATGATTGGCAAAGAGGATTTAGATTGCACTAAGAAACACAGGAAGGTCCATGTTTCATTAGTATATCCAAAATGTCCTCAAAGTACACCAAATCTACCCCATGCTGCAGTCTCCTGAGGAGTGCTGGGTGAATCTGCTTTGAATATAACCTAGGGCATTTAGTTAATAAAGCTCCATATAATCTTATGCCTGCTTGTTGGATTTTGTTTTCTTGTTTTTTGTTTTTAATTATCTATGAGAGAAATGAATTAACAAGAACAACATAGCATGGAGAGTTAGTTCATAGTTTATAAAACCACATCCCTGGCCGGGCGTGGTGGCTCACACCTGTAATTCCAGAATTTTGGAAGGTAGAGAGGCGAGCGAGCGGATCACTTGAGGTCAGGAATTCGAGACCAACCTGGCCAACATGGTGAAACACCCTCTCTACTAATAACACAAAAATTAGCTGGGCTTGGTAGCGCATGCCTGTAATCCCAACTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACGCCGGGGTCGGAGGTTGCAGTGAGCCATGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTCAAAAAAAAAAAAAAAAATTAAAACCACATCCCTGTGGCAGGAGCTTGGTAAGAATATGTTCAGTGTGTGTCACTTTGCCAGAAAAATGTAATGATATGATTTTCATTCTTTAGTGTTAATTTGACAAAATGTTCTCTTTTTTTTTCCCCTCCTTTCCTCCATCCTTTACTCTTTACTGTCTATAGTTCTTCCTCGGCAATCAGGTACAGTGTGCCTTGCAATGTTCTCCTTCTCAATGGATATGGTCTGTGTAGCTAATGCTGCCTGTTCTTCGCTATGGGGAGAGGATGTAATCTGAAGCATGCCTGGGTCGCACCTGGTTGTCTTACCAAGTGGAGAAACTGTTGATGGGGCCAGCATTGCAAAGCTATCTTAGCAGCAAAAGAATATAAGTATAATTTTTTATAAAGGAGATGAAATGGAGGAAAGTGAAGCTATGGTATCAGTCCATTACACTTCTAAGAAGAGCCTGGTTTTGTACTTCTGTGTTAGAAGTCAGATTACCAAATAGCACAGTTCTTATTTATATTAGAATCTTTTGACAGTTAATAAATTTTGTAATGTATGGTAAGTCAATTCCTGAAGAACTTCAGTACTATTTAAATATCTTTTTAATATTTGTAGTTACTTATATTGTATGTTATAATTACAAGGTATCTGAGAAGTGTAGTGTGGAGATCGTAATTGGCCGTGGCCTGAAGTATGCTGATTATGGCCAGCCAGCCAAGATTTAATGGGACCAAATTAGACTTGCAAAAAAGATTGGATGCTTTGACTC
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CAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTGGTGACAGGCGCTTGTATTCCCAGCTACTCTGGAAGCTGAGGCAGGAGAATCACTTGAACCAGGGAGACGGAAGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATCTATAACCGCCAACCGAACAAGTACCCCTCTTAATGTTTCAAAATATGATTCCTTTTCTCCAGAGTTCCCCACCACCAAGTTAGAGATGACTGCTGTGGCTGACATTTTCGACCGAGATGGGGATGGTTACATTGATTATTATGAATTTGTGGCTGCTCTTCATCCCAACAAGGATGCGTATCGACCAACAACCGATGCAGATAAAATCGAAGATGAGGTAAGGGAAATAATTATATTTTGAGTACACTTCTGGCTGTAGGTTTGTAATATCCTGAATTTGGTTGGGTTCAGTGATCATATTAGCCTTTGACTTGTCTGTTGGGAGATAATTATTTGGAGTTCTATTTTGAGATCTCTTTTTGGATAGCATTTCAAAGAGTCCCAGAGGATCTCTGACATCTGAGCTCTAGCTCAGGCTAGATGGATTACTCAAGTGAGTCATGTCTGTGTGGTGCTCTGAAGTTTACAGAGAACCTTTGCAGGGCAGCATACTCATCCTGGTTCACTCGTCCTGTGTTTGGGATGGACTCATCTCACTCTTGAGCATGCTGCCTGGAATCTAGGGAAATGGTCTACCAGTGTAGCATTTAAGGGTTGAAATGGACTGGGCATGGTGGCTTACATCTGTAGCTCTAGCACTTTGGGAGGCCAACACGGGAGGATCACTGGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGTATGATTCTGTCTGTCCCCCCCGCCAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCAAGTGCTTGTAGCCCCAGCTACTCAGGAGACTGAGGTGGAAGGATCACTTGAGCATGGGAGATCAAAGGTGTGGTAAGCTGTGATCATGCCACTACACTCCAGCCTGGGCAACAGAGCAAGACTTGTCTTAAAAAATAAAAACAAATGTTTAAAAGGGGAGTAAAATGTAATGTTTAAAATGGTGTATACCCATCATGCTTTCTGCCTTGTTAAGAACTACCACATTGAAACTGCCAAATTTATTAGTGCCATCTAGAAACCCTAACATCTGTTGATAACAGATCTTGGTAAGGGAGAGGTGCTGGGACAGGTCTTAGGAGTGGCCCTGGAACACACCAGGACTGACTTCCAGGGAATCTTGGGCTCCTAGGGTGAAATTTAAAGCAGTTCATAATTTGCTTTATTAATAATTTGATTTTGATGCAAGCATATTAGCACTTTTCTCTGAAGGAGTTTTGAAGCAGGAATAAAGAATGTGTTGTATAGTCACTTGGGAATTTTCTTTCATGCCTTTTCTCAGTGTCTCAATTAGTTCACTTAGTAAGAAGAACATATACTAATTTGGAACAGACAATAAATGTATATGTCAAAAGCCTGAAATGCCTAAAAAGTAAATAATGAGCTGTGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCAAGGCCAGCCTGACCAACATGAAGAAACCCCATCTCTACTAAAAAAATACAAAAAATTAGCTGGGCCTGGTGGTGCGTGCCTATAATCCCAGCCACTTGGGGGGCTGAGGTAGGAGAATTGTTTGAACCAGGAGGCGGAGGTTGTGGTGGAGCCGAGATCGCACCATTGCCCTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAATGTAAATAATGAATAGCCTCCCTGTTAATGTATAAAAATCTTTGTTTCTCTGAATAGGAAGTTTTGCTCTACCCTTTACACTTTCCTTTTTGTTCACACCCAATAGGTTACAAGACAAGTGGCTCAGTGCAAATTTGCAAAAAGGTTTCAGGTGGAGCAGATCGGAGAGAATAAATACCGGGTAAGGAAGAGAAAAAGCAGTCCTTTGTTGTGGTGGTTTCTCATATGTGGCTGATCCCACCTTTTCCTCCTGATGCTTAGAGGCCCAGAGCCCATCGGACTTGAGATGTGGTCACTCTCTGACCTCATCTCTATAGATGCCAAGTGTCAGGTACCCTGTTACATCTGAAAACTAGTCCCATATCTACCTAGATAGTAGTAGTTTGTATTTAAGTTTTAAGATAGGAGATATTTCAGAGCTGTCACTTCACATCTGACAAAGTTCCTAGGGGGATGAAGGTACCTTTGGAAACAATTATATCTATTGACTGACCACTTGCCCACAAAGAGATGGTCATTGTGAGCCTGAGTGGCTCCCAGGCTAGAGAGGCCTGGGGAAACTGTGTTGAAGCCCCAACAGACACTGTGCCTGCTCTGAGCTGGGCTACAAATGGGGCCCAGGAGCACTGAGGAGACATCAGGCTCAGTGGTCTTCCCTGGAAAGCCATGCTAGGTGTGGCCATAACTGACAGTGAACTATACTTGTGTTTTAGCTTCTTTTGGGACCAGGGTCAGGGACATAGAAGGATCTGAAACAGGTCTCCTAAAATATATCAACAGCTCGTCAAGATTCTCTAAAGTCCTAAGAAAAATCTATGATTGGCAAAGAGGATTTAGATTGCACTAAGAAACACAGGAAGGTCCATGTTTCATTAGTATATCCAAAATGTCCTCAAAGTACACCAAATCTACCCCATGCTGCAGTCTCCTGAGGAGTGCTGGGTGAATCTGCTTTGAATATAACCTAGGGCATTTAGTTAATAAAGCTCCATATAATCTTATGCCTGCTTGTTGGATTTTGTTTTCTTGTTTTTTGTTTTTAATTATCTATGAGAGAAATGAATTAACAAGAACAACATAGCATGGAGAGTTAGTTCATAGTTTATAAAACCACATCCCTGGCCGGGCGTGGTGGCTCACACCTGTAATTCCAGAATTTTGGAAGGTAGAGAGGCGAGCGAGCGGATCACTTGAGGTCAGGAATTCGAGACCAACCTGGCCAACATGGTGAAACACCCTCTCTACTAATAACACAAAAATTAGCTGGGCTTGGTAGCGCATGCCTGTAATCCCAACTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACGCCGGGGTCGGAGGTTGCAGTGAGCCATGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTCAAAAAAAAAAAAAAAAATTAAAACCACATCCCTGTGGCAGGAGCTTGGTAAGAATATGTTCAGTGTGTGTCACTTTGCCAGAAAAATGTAATGATATGATTTTCATTCTTTAGTGTTAATTTGACAAAATGTTCTCTTTTTTTTTCCCCTCCTTTCCTCCATCCTTTACTCTTTACTGTCTATAGTTCTTCCTCGGCAATCAGGTACAGTGTGCCTTGCAATGTTCTCCTTCTCAATGGATATGGTCTGTGTAGCTAATGCTGCCTGTTCTTCGCTATGGGGAGAGGATGTAATCTGAAGCATGCCTGGGTCGCACCTGGTTGTCTTACCAAGTGGAGAAACTGTTGATGGGGCCAGCATTGCAAAGCTATCTTAGCAGCAAAAGAATATAAGTATAATTTTTTATAAAGGAGATGAAATGGAGGAAAGTGAAGCTATGGTATCAGTCCATTACACTTCTAAGAAGAGCCTGGTTTTGTACTTCTGTGTTAGAAGTCAGATTACCAAATAGCACAGTTCTTATTTATATTAGAATCTTTTGACAGTTAATAAATTTTGTAATGTATGGTAAGTCAATTCCTGAAGAACTTCAGTACTATTTAAATATCTTTTTAATATTTGTAGTTACTTATATTGTATGTTATAATTACAAGGTATCTGAGAAGTGTAGTGTGGAGATCGTAATTGGCCGTGGCCTGAAGTATGCTGATTATGGCCAGCCAGCCAAGATTTAATGGGACCAAATTAGACTTGCAAAAAAGATTGGATGCTTTGACTC
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Task1_train_675
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Gene MACF1 (microtubule actin crosslinking factor 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; not provided
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TTGTGGGGCCCAGCTTCTGAGAGGGGGCTCTCACAGAGCCTGGGGGGCAGCTTCCTTCCCAGGACAGGACGTGTATTCTCTTTCAAGTCTGGGTTCAGTGCTGCTGCTACCACACAGTGCTTTTGCTGCAGTCACTTTGTATAAACATGTTTAAATTGTATCAGATGAAAGGTGTGGGACTTCTTTTATTTTCAAAGTAAAGGGCTGGGAGGGAGGATACAGTATTTTTCAATTGCCTTGCCTGTGCAAATACTGCATTTGAGTCAGAGCAGCTAAGGAATATGGAGAATTACCACAAGTATATTAATTTTGAGGGAGGATGGCTATATGACCTCAGATATCCTTTCTTGCATTTTCAATTTTTCTGCCTTGTTTTAAAGTTACAGTTGTCCTTTATAACTTTGAAAATCCTGGCCGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGGTCAGGAGATCGAGACTAACCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATACAAAAAATTAGCCGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAATGAGCCAAGATCGCGCCACTGCACTCCAGCCTAGGCGACAGAACGAGACTCCATCTCAAAAAAAAGAAAAAGAAAAAGAAAATCCTACCAACTCCATACCCGAGGAACCCTTGAATTGAATGATTTTAGGAATTCCATTTCTCCTACCAGATGTTTGTTTGTTTTGGAAACTCTGCATACTTCTCTTTTGTTGCTCCTTACTTCATTTTGGAAAGAGGGTAATTTATGCCATGAGAAACTCCAGATGTTTAGAGCTGGGAAGTAGGAATGTTTGGGCAAGAAAAAAGGGAAAACATAAATAATCAGAAATATGCTTGTTTTAGCATCTAAAATGATTATTGGATACTGTTCATAATCATCATGGGAGCTACAATTTTTAATTGCTTCAACTCAATTTTAGTATAAATATGACCTAATCATTTGTTCAGCTGAAGAAACTTTTCTGCTGGTGACACTGCAATTAGCAAATACTTCGGGTTAATTCCTGAAAACCTGATGCAGAAAATCAGATTTTCTTCTAAGCTTGTAATGATGCTTTGCAAAGGTTTCCTTAAGGCTTGAAATAGTATTCACTATTTTCCATTTAGCTTTAAAGCATACTGTATTCAGAAGTTGATATCCACAATCTTTCTTTTAGGAAAACAAATTAGCATGCCAAGAATATGAATTTTTAATTGAGCAGAATCTCTTTTAAAAAAATAAAGTGACCTAACACTTTGTCTGTTTTCCTACCTCTCCTTTTGGTGCAGAGGCAGTGGTGTGACCATTAAAAGTGATTTTTATCCCAATAGAAAGTATATTGGCCCGGCGCAGTGTCTCATGCCTGTATTCCCAGCCCTTTGGGAGGCCAAGACTGGCGGATCACGAGGTCAGGAGTTCAAGACAGCCTGGCAAACATGTTGAAACCCCGTCTCTACTAACAATACAAAAATTAGCTGGGCGTGATGGCACACGCCTAATAAACCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTACAGTAAGCTGAGATCACACTGTTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCACAAAGAAAAAAGTATATCAAGACACCAGTCTTTAGCTTGATATTTCTGCTTTTCTATTTTTAAAATCCTTTTGTGAAATATATAAAAATGCAAAATTGTGAGAGTTAACAATTCTTCTGTAGCTATCAAATTGTCATTCCTGTCTGAATACAGTCTGCTTTGGGAGAAAAACATAGATCTGCTTTAAGACATATATATTAATTAAGTTTCCTTTGATTCTACAGTTTGGGGATTCTCAGCAGTTGCGGCTGGTCCGTATTCTGCGCAGCACCGTGATGGTTCGCGTTGGTGGAGGATGGATGGCCTTGGATGAATTTTTAGTGAAAAATGATCCCTGCCGAGGTAAGGAACCATTCTAAGCATGAATTACGTGTTAGGTATGCCCCCAGCAGTGATCTTTTATGCTTACAGGAAGCATTGATGGTGGGGTCTGTCTGTTTTTTATTTTGTTAAGCTGCCCAGGTGTCATCCCACTAGCACAGATTAGAACTCAGGGGTGCCAGCATAGGCCAGGGAGAAAAAGCTGAAGAGGTTGATGCTATTTGGGGAGGTAGGTCTAGAGGAATGCAGTAATGAGAATTAAGAGTGTATTGGTGTTACTCGAATGTTTGTTTGGGGTATTAAATTAACACTATCCTAGAAAGGAGCCCAGTGAAGCCCTTTAGGTTCCCTCTTAGTGCCTCAGATCCCTTTGCCTGTAATTCCTGTGGCTGATACTCAGGGAGAGTGTTAGGCCCTTCTCATACAGGGAAGAACTGGTGAGCCCCCTGGACCAGGAGGAAGGATAAAGACACCTACATGTGAGCCCATTCACTTCTAAGACAGGTGGCCACCTAAGCAAGACCATGGGGTGTCTTTCTGCTAAATGTGAAAAGGCTGGCCCACCAGCCCAGAAGCATAAGGAGACTGTCAATTTAATATGAGCATGAGTGGTGGCATCTGCAGCTAGGGGGTGTGTGGGGACTGCAACAGGGAAGAGATGACCGGTTCCAATTGCTAAATCCTCTTCAGCTATGTCCTTGCCTTTTTCCTGTTAGCAGAGCTGCATGTGGGTGCACAGGAGGCTCCCCCACTGTCTGCCAATTTGTCTTTCTTGACTAGTTTCTGCGTTTCCTGCCCTGTCTGTTTCTTTCTGTTTACGTATTTTTTATTCTAGTTCACCATCCTGGGAGTAAAATAAAGCGCTCTGATTCCAGCTCTTCGATTTCCAGTCAGTCTCCCATAGGTTGGCTTTTAAGCTTTGTCCCTCTTCCTCACACCCTAGCCCATTGAGAATGGCTTTGCTTCTTAAACTGTAACATCTCTTGGTTCTGTGTATCTGCTGCATTCATGAATGCTTGAAATGGCCAAACCATAGCTTTTCTAACTACTCAAGTTGATGGTGCATAAAATACTGTTGAGACAGTGTCCATGGAATTTGTTTTGAGTTTCTATTTAACAAATACTTATATAGTTTTATGTGCCACACACTATTACAAGTACTTTACAAGTAACACATTTATGCCTCATATGAAGTGTAGATGCTCTTATCTCTGTTTTACAGAATAGGAAATTGAGGCATAGAAAACGTAAATAATTTGCCCAAAGACAAACAACTAGTAAATGGCAGAGATGAGATTCAAATTCAGGGCAATCTGGGTCTGGAGTATGTGCCCCTAGTCAGCATGTTATATCTTTCAGAGGCTGACACACCTTTGTGTATGTTTATTATTGGATCACCTGCATAATTATTAAGGTTTATTTATAAACCTAGCAGAAATGTTTGCTGTACAGTACATAACTTCTTTGGAAATGATTTATAGTCATATTCTGAAGCATTTAGTGAGGACAGAGCTAAAGATAGCAGTTTTCACATGAATTCAGATATGCCCCTAAGTAGTTCCTCTTATTTTAACTCATTCTGTGTTTACTACAGTAAACCAGAGTAAAAATTCAGCAGTAATAATTTTCATTAGAGGTTCCTTTTTTAAAAAAATTGGGGCCAGGTACAGTGGAATCCCAGTACATTGGGAGCCCAAGGCAGGAGGATTGTTGAAGCTCAGAAGTTCAAGACCATCTTTAGCAACATAGTGAAACCCCATCTCCACAAAAAAAAATTTAAAAATTAGCTAAGCATGGTGGTACACACCTGTGTAGTCCTAACTACTCTGGAGGCTGAGGTGGGAGTATTGCTTGAGCCCAGGAGTTCAAAGCTACAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAAGGCAAGACTCTTGTCTACAAAAAAGTAATTTTGAAAACACTTAAAAACTTGAAAGTATTTAGTTTTAGAATTTAAAAGCTGTCTTTTATTGCTTTAATGAGAAACAATATATGCCATTTTAACTTTAACTCAGTAAAAC
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TTGTGGGGCCCAGCTTCTGAGAGGGGGCTCTCACAGAGCCTGGGGGGCAGCTTCCTTCCCAGGACAGGACGTGTATTCTCTTTCAAGTCTGGGTTCAGTGCTGCTGCTACCACACAGTGCTTTTGCTGCAGTCACTTTGTATAAACATGTTTAAATTGTATCAGATGAAAGGTGTGGGACTTCTTTTATTTTCAAAGTAAAGGGCTGGGAGGGAGGATACAGTATTTTTCAATTGCCTTGCCTGTGCAAATACTGCATTTGAGTCAGAGCAGCTAAGGAATATGGAGAATTACCACAAGTATATTAATTTTGAGGGAGGATGGCTATATGACCTCAGATATCCTTTCTTGCATTTTCAATTTTTCTGCCTTGTTTTAAAGTTACAGTTGTCCTTTATAACTTTGAAAATCCTGGCCGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGGTCAGGAGATCGAGACTAACCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATACAAAAAATTAGCCGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAATGAGCCAAGATCGCGCCACTGCACTCCAGCCTAGGCGACAGAACGAGACTCCATCTCAAAAAAAAGAAAAAGAAAAAGAAAATCCTACCAACTCCATACCCGAGGAACCCTTGAATTGAATGATTTTAGGAATTCCATTTCTCCTACCAGATGTTTGTTTGTTTTGGAAACTCTGCATACTTCTCTTTTGTTGCTCCTTACTTCATTTTGGAAAGAGGGTAATTTATGCCATGAGAAACTCCAGATGTTTAGAGCTGGGAAGTAGGAATGTTTGGGCAAGAAAAAAGGGAAAACATAAATAATCAGAAATATGCTTGTTTTAGCATCTAAAATGATTATTGGATACTGTTCATAATCATCATGGGAGCTACAATTTTTAATTGCTTCAACTCAATTTTAGTATAAATATGACCTAATCATTTGTTCAGCTGAAGAAACTTTTCTGCTGGTGACACTGCAATTAGCAAATACTTCGGGTTAATTCCTGAAAACCTGATGCAGAAAATCAGATTTTCTTCTAAGCTTGTAATGATGCTTTGCAAAGGTTTCCTTAAGGCTTGAAATAGTATTCACTATTTTCCATTTAGCTTTAAAGCATACTGTATTCAGAAGTTGATATCCACAATCTTTCTTTTAGGAAAACAAATTAGCATGCCAAGAATATGAATTTTTAATTGAGCAGAATCTCTTTTAAAAAAATAAAGTGACCTAACACTTTGTCTGTTTTCCTACCTCTCCTTTTGGTGCAGAGGCAGTGGTGTGACCATTAAAAGTGATTTTTATCCCAATAGAAAGTATATTGGCCCGGCGCAGTGTCTCATGCCTGTATTCCCAGCCCTTTGGGAGGCCAAGACTGGCGGATCACGAGGTCAGGAGTTCAAGACAGCCTGGCAAACATGTTGAAACCCCGTCTCTACTAACAATACAAAAATTAGCTGGGCGTGATGGCACACGCCTAATAAACCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTACAGTAAGCTGAGATCACACTGTTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCACAAAGAAAAAAGTATATCAAGACACCAGTCTTTAGCTTGATATTTCTGCTTTTCTATTTTTAAAATCCTTTTGTGAAATATATAAAAATGCAAAATTGTGAGAGTTAACAATTCTTCTGTAGCTATCAAATTGTCATTCCTGTCTGAATACAGTCTGCTTTGGGAGAAAAACATAGATCTGCTTTAAGACATATATATTAATTAAGTTTCCTTTGATTCTACAGTTTGGGGATTCTCAGCAGTTGCGGCTGGTCCGTATTCTGCGCAGCACCGTGATGGTTCGCGTTGGTGGAGGATGGATGGCCTTGGATGAATTTTTAGTGAAAAATGTTCCCTGCCGAGGTAAGGAACCATTCTAAGCATGAATTACGTGTTAGGTATGCCCCCAGCAGTGATCTTTTATGCTTACAGGAAGCATTGATGGTGGGGTCTGTCTGTTTTTTATTTTGTTAAGCTGCCCAGGTGTCATCCCACTAGCACAGATTAGAACTCAGGGGTGCCAGCATAGGCCAGGGAGAAAAAGCTGAAGAGGTTGATGCTATTTGGGGAGGTAGGTCTAGAGGAATGCAGTAATGAGAATTAAGAGTGTATTGGTGTTACTCGAATGTTTGTTTGGGGTATTAAATTAACACTATCCTAGAAAGGAGCCCAGTGAAGCCCTTTAGGTTCCCTCTTAGTGCCTCAGATCCCTTTGCCTGTAATTCCTGTGGCTGATACTCAGGGAGAGTGTTAGGCCCTTCTCATACAGGGAAGAACTGGTGAGCCCCCTGGACCAGGAGGAAGGATAAAGACACCTACATGTGAGCCCATTCACTTCTAAGACAGGTGGCCACCTAAGCAAGACCATGGGGTGTCTTTCTGCTAAATGTGAAAAGGCTGGCCCACCAGCCCAGAAGCATAAGGAGACTGTCAATTTAATATGAGCATGAGTGGTGGCATCTGCAGCTAGGGGGTGTGTGGGGACTGCAACAGGGAAGAGATGACCGGTTCCAATTGCTAAATCCTCTTCAGCTATGTCCTTGCCTTTTTCCTGTTAGCAGAGCTGCATGTGGGTGCACAGGAGGCTCCCCCACTGTCTGCCAATTTGTCTTTCTTGACTAGTTTCTGCGTTTCCTGCCCTGTCTGTTTCTTTCTGTTTACGTATTTTTTATTCTAGTTCACCATCCTGGGAGTAAAATAAAGCGCTCTGATTCCAGCTCTTCGATTTCCAGTCAGTCTCCCATAGGTTGGCTTTTAAGCTTTGTCCCTCTTCCTCACACCCTAGCCCATTGAGAATGGCTTTGCTTCTTAAACTGTAACATCTCTTGGTTCTGTGTATCTGCTGCATTCATGAATGCTTGAAATGGCCAAACCATAGCTTTTCTAACTACTCAAGTTGATGGTGCATAAAATACTGTTGAGACAGTGTCCATGGAATTTGTTTTGAGTTTCTATTTAACAAATACTTATATAGTTTTATGTGCCACACACTATTACAAGTACTTTACAAGTAACACATTTATGCCTCATATGAAGTGTAGATGCTCTTATCTCTGTTTTACAGAATAGGAAATTGAGGCATAGAAAACGTAAATAATTTGCCCAAAGACAAACAACTAGTAAATGGCAGAGATGAGATTCAAATTCAGGGCAATCTGGGTCTGGAGTATGTGCCCCTAGTCAGCATGTTATATCTTTCAGAGGCTGACACACCTTTGTGTATGTTTATTATTGGATCACCTGCATAATTATTAAGGTTTATTTATAAACCTAGCAGAAATGTTTGCTGTACAGTACATAACTTCTTTGGAAATGATTTATAGTCATATTCTGAAGCATTTAGTGAGGACAGAGCTAAAGATAGCAGTTTTCACATGAATTCAGATATGCCCCTAAGTAGTTCCTCTTATTTTAACTCATTCTGTGTTTACTACAGTAAACCAGAGTAAAAATTCAGCAGTAATAATTTTCATTAGAGGTTCCTTTTTTAAAAAAATTGGGGCCAGGTACAGTGGAATCCCAGTACATTGGGAGCCCAAGGCAGGAGGATTGTTGAAGCTCAGAAGTTCAAGACCATCTTTAGCAACATAGTGAAACCCCATCTCCACAAAAAAAAATTTAAAAATTAGCTAAGCATGGTGGTACACACCTGTGTAGTCCTAACTACTCTGGAGGCTGAGGTGGGAGTATTGCTTGAGCCCAGGAGTTCAAAGCTACAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAAGGCAAGACTCTTGTCTACAAAAAAGTAATTTTGAAAACACTTAAAAACTTGAAAGTATTTAGTTTTAGAATTTAAAAGCTGTCTTTTATTGCTTTAATGAGAAACAATATATGCCATTTTAACTTTAACTCAGTAAAAC
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Task1_train_676
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Located on Chromosome 1, this mutation impacts TRIT1 (tRNA isopentenyltransferase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Combined oxidative phosphorylation deficiency 35
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AACTTCTTTTAAAAACCTGATCTAGAGGGTATTCAAGAAACACTCCCTGGCAGACACTTTTGAATGAAGATGAGACTGAAGGTAGCAAAGAGTGCAGCTACAGGTATTTCACCCACCTGAGCCAACCATGTTGCAAGAGTTTAGTCTCTGTGGTTAGCTTCCCTGCCTATATACACACTAAACTGCCTTCCACAACTAGGTTAAGTCAGTTGCCTAAAGGCAAAGGAGCATCGCCCATGGGCAAAAACATCAAAGGCCTTCGGATGCCAACGACTGGCAGGTGCTGGCCTTTTGATTGTGCCAACCCCAAATAAGATTCTTCATAAACTGGACTGGGCTGCACCTGCTACCACAGGAAAGGTGAGACTAGGAGGGTGCAGGCAGCATCCACAGCACACCTGGCCTTGGCTAAGCTCTGCACCTGTTTCCAGGCCACTCTACATTTTCCTTTCTCCTCTAAGCCCTTTGTTGGGCTTCTGTGCCCTGTCTAAGCACCTTTCAACAAGTTCTCGGCTCCCAGCTGCTATTTCTGGCTTGGGTCCAAGGCCATGCTGGGGTGGGGAAGTCCCCCTGGCTTCCTGCCAGAACCATATCCCAGCAGACCAGCCCTGGCCAATCACGCACAGCTCCTGATTTACAGGGCAGCTGTGCCTTTCACTCCAGCACCAGGACGATGCCGGCATACACACGAATGAGGAACAGGCATATGACACACTGTGCCATCAACTCCTCCTACCACAGAGATGGAGGAATTATTGTGGTTTTACTACAGGAAGAAGTTCTAAATTATTACCCAAAAGTCTTCTGTTAAAGGCTTATTGTCAGACATGGGGATAAGAGAAGCTGCATTAGAAATTTGTAATACAGCACTGAGCTTCAACTTCAGATGACACTAAGACTTCTATCTACCAGGACATGCAGAGAAAACAGGATAAGTAGAGGAAAGCACAACAAGCCTCTTCACACCAGAACTCCACTGGAGAGCTCAGGCAGAGAGTGGGAGCTGGGAGAAAGAATGTTAGCAGTTTAGTGGTCAACAGCAGGGATCAAGGTATGTATTTTCAGAGGCACCGAGTGGGGCAGAGGCTTCAGCTGGCCCTGTCTGTAATTGAGAGCAGAAGTCTACCAGCAAAAGGTAAACACAAGATGATTCAGAAGCATATTTAAAACATGTCCACAAGATAAAACTGAAGTTTCACTTATGCTTAAATTAATCTCCTTTAGCTCATAACCACATAGTTTTTACCCATGGTCCAATACTAATGCTGTCTTGCTAAAGTTACAGCTAAAGGAAGTAAGAGTAGTATAAAGGAGTGTGGACTCTGTGTCAGGCCTGCATTCAGTTATCTACTGCCGACTAGCTGGGTGATTTTTGGCAAGTTATTTAACTTCACTAGGCCTTCATTTTCTTATCTGTAAAAATAAAAGAATAACACCTACCTTGAAGACTCAATAATATATGTATAACACCAAATTTAGTGCCAAAGACACAGTACAGGGCCAAATCAATGAGAATTTCCTTTCTTTTCCCTCAAAAATGCTGTTCAACTAAAGTTTCATTTGAAGCAATCTGAAGCACCATGTGGAGACGCTGGGAGAAATGGTGAAGGTGTCTTTTTATACAACTCATCTGGCCCCCCAAAAACACTGTAATTAGGAAATCTTCCCTACAGAAATCTGACTGCTCTTCAGGTACAAAACTGAAGCTAAAAATCAGCCCTGAACACCAACTCTCCAAAAAAGATGCTGCTGTTCTTCTTAGCTGTTTGCAGCCAGTATCCATCTGTTCAAGGCAGAAGGCAGACTCCTCAATGCAAATAATTTTTTTTTTTTTTGTGACATCCCAAGAAAATATCCCTGGATAATCATTTATGTTATAGAACTTCCCTTAGGTCAGATCCAAAATCTTAGAACAGGCCCAGAATCTAAAATTCATTTTCTGGGTGAGCTGAGGACATCTATATTCTATTGAAAACAGACCCATAGGATAAAGAAAAACATGAGACTTACTGCTCAAAAAACGGTTTTTAACCCATCGGTTTTGTTTCCGGGCATATCTCTTAGTTACTTGTTTCAGAGCCTCAATACCTGAAAGATACAGTAGATTTAAGAACATCTAGGTAAGCACTCCTTACCCTGCAGAGAGGCAGGCCCTCCCAGCCCAGCAGGAAAAAGTCAGCCACGGCAGTGCAATGTCAGACTTGGTGGACAAAAATCTCAGTTCTGAGCTGAAGGCTATTTGGGACGCTTTAAGCCTTGGCTCTTTCTCAGACCATACCAGCAGAGTACCCTGCCACCCAAAGATGTCCAAGACTAGATTAGATGGAAGAATTCACACCTTTCTTTAGAAGCTGGTTACTAGTCTCCAGTGTGCATTTTCCCTCAGTGATCAGGTACTCGTGAAATTCCTTGAAGCCAATTGATTGGAAGATACCATGTTGATAGTCCTGGCTGGGAACAGGAGGGTATCAGCAGATAAGCCATTGCTCCTAAAAGCTAGCAGGGGCTTTGGAGATGGACCTAGTTGAGCCATTTCATCTGTCAGATAAGGAAATTGAGATCCTGAGCAGTTACTGATTCTCTGAAATTTTCCCCTCCCCTACCCACCAGGTTACTTTCTTGAAAAGTTAACTCCTGGGACTGTCTGAAAGATTAAAAAACTGCATCTGCAAAGAAGGCTGATAAACAAGTAGACCCAAAGCCAGTATTAGCGTTATGGTCTTTTGATTGTCTGCAAAATATGGACAGTAGGTCAGAATAACAGCCAAATCCTCACCTATTTTCCGAAACATTCTTCTGATTATAGCGTCTGTGAAAATCTCTTAGTTCCTCCAAGAGCCCAGCAGCAAGCATGTCATCCACCCTCTTATCCAAGCGCTCATCTAGAACTTGAATCAAATTAGCCCATCAACCAGCAAGCAAGTTGTAGGTACCTACTATATACTTACATGACGAGTGAACAGGTGGTCACAAAAAAAGAGAATTTGTCCAAACGGAAGAAAGAATTCAGATTCCAAAGATTATTATAATAATTCATACGTTACTCACATTTAAGACTTTGCAACTCCAAATAAAAATGAAGCATAGTCAGAATGAAGCACATGCCTCCTCATTATATAGAGAAAGCATACAATTACAGCAACTGTGAAGGACAAATATTTTATTCTCATATGGAATGTGTTTTAGAGGTGGCTGAGGATCCCCTGGTTTACCTTTCTTATTTTTAATTTAATATGTCATTATACTGCAACTTAGTGTTACTTTATGTTTAAGAACCCCTAGATGACACCTTGGATAAGAACATGGAACTTTAATCCAAAGACATCCTAGATACGGCCGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAAGAGTTCGAGACCAGCCTGACCAACACAGTGAAATCTGTCTCTACCAAAAGTACAAAAATTAGCTGGGCGTAGTGGCGCGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCATTCCAGCCTGGGCAACAGGGCGAGACTCTGTCTCAAACAAAAAAAAAAGACATCCTAGATACATTCTAAACTACTGAGCCAAGCAAAGGAGCAAAGAGTGAGAGGTCGTAATTGTTCAGATGTGACAAACAGCTTTACTATGAATCAGATACCATTATTTTATGCTGCCTGTAGAGTAAAAGTTTTTGTTTATAAAATTTCATTATTGAAAAATTACCTTTTTTATCAATTTATGGCAGATTAATTTAACAACAGATTGTCACCATTTTAATTATGTTCTTCTACATCTCTATCATTGTGATTTATTGGCCTACAGCAACAGTAACCTTCCTAGAAAGTTTGCATTTATTGAGGACCCGTCATGTGTCAGGCACATTCTGAGCACTATATATGTATTAATTCATCTAATCCTTGATGAAGCTAGGAAATATGTGTTATTACTATTATCTCTATTTTACAGGAGAATTGGGAAACAGAAAGGTAAACTAATTTGTCTTAACAATTCACATAACTAGAA
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AACTTCTTTTAAAAACCTGATCTAGAGGGTATTCAAGAAACACTCCCTGGCAGACACTTTTGAATGAAGATGAGACTGAAGGTAGCAAAGAGTGCAGCTACAGGTATTTCACCCACCTGAGCCAACCATGTTGCAAGAGTTTAGTCTCTGTGGTTAGCTTCCCTGCCTATATACACACTAAACTGCCTTCCACAACTAGGTTAAGTCAGTTGCCTAAAGGCAAAGGAGCATCGCCCATGGGCAAAAACATCAAAGGCCTTCGGATGCCAACGACTGGCAGGTGCTGGCCTTTTGATTGTGCCAACCCCAAATAAGATTCTTCATAAACTGGACTGGGCTGCACCTGCTACCACAGGAAAGGTGAGACTAGGAGGGTGCAGGCAGCATCCACAGCACACCTGGCCTTGGCTAAGCTCTGCACCTGTTTCCAGGCCACTCTACATTTTCCTTTCTCCTCTAAGCCCTTTGTTGGGCTTCTGTGCCCTGTCTAAGCACCTTTCAACAAGTTCTCGGCTCCCAGCTGCTATTTCTGGCTTGGGTCCAAGGCCATGCTGGGGTGGGGAAGTCCCCCTGGCTTCCTGCCAGAACCATATCCCAGCAGACCAGCCCTGGCCAATCACGCACAGCTCCTGATTTACAGGGCAGCTGTGCCTTTCACTCCAGCACCAGGACGATGCCGGCATACACACGAATGAGGAACAGGCATATGACACACTGTGCCATCAACTCCTCCTACCACAGAGATGGAGGAATTATTGTGGTTTTACTACAGGAAGAAGTTCTAAATTATTACCCAAAAGTCTTCTGTTAAAGGCTTATTGTCAGACATGGGGATAAGAGAAGCTGCATTAGAAATTTGTAATACAGCACTGAGCTTCAACTTCAGATGACACTAAGACTTCTATCTACCAGGACATGCAGAGAAAACAGGATAAGTAGAGGAAAGCACAACAAGCCTCTTCACACCAGAACTCCACTGGAGAGCTCAGGCAGAGAGTGGGAGCTGGGAGAAAGAATGTTAGCAGTTTAGTGGTCAACAGCAGGGATCAAGGTATGTATTTTCAGAGGCACCGAGTGGGGCAGAGGCTTCAGCTGGCCCTGTCTGTAATTGAGAGCAGAAGTCTACCAGCAAAAGGTAAACACAAGATGATTCAGAAGCATATTTAAAACATGTCCACAAGATAAAACTGAAGTTTCACTTATGCTTAAATTAATCTCCTTTAGCTCATAACCACATAGTTTTTACCCATGGTCCAATACTAATGCTGTCTTGCTAAAGTTACAGCTAAAGGAAGTAAGAGTAGTATAAAGGAGTGTGGACTCTGTGTCAGGCCTGCATTCAGTTATCTACTGCCGACTAGCTGGGTGATTTTTGGCAAGTTATTTAACTTCACTAGGCCTTCATTTTCTTATCTGTAAAAATAAAAGAATAACACCTACCTTGAAGACTCAATAATATATGTATAACACCAAATTTAGTGCCAAAGACACAGTACAGGGCCAAATCAATGAGAATTTCCTTTCTTTTCCCTCAAAAATGCTGTTCAACTAAAGTTTCATTTGAAGCAATCTGAAGCACCATGTGGAGACGCTGGGAGAAATGGTGAAGGTGTCTTTTTATACAACTCATCTGGCCCCCCAAAAACACTGTAATTAGGAAATCTTCCCTACAGAAATCTGACTGCTCTTCAGGTACAAAACTGAAGCTAAAAATCAGCCCTGAACACCAACTCTCCAAAAAAGATGCTGCTGTTCTTCTTAGCTGTTTGCAGCCAGTATCCATCTGTTCAAGGCAGAAGGCAGACTCCTCAATGCAAATAATTTTTTTTTTTTTTGTGACATCCCAAGAAAATATCCCTGGATAATCATTTATGTTATAGAACTTCCCTTAGGTCAGATCCAAAATCTTAGAACAGGCCCAGAATCTAAAATTCATTTTCTGGGTGAGCTGAGGACATCTATATTCTATTGAAAACAGACCCATAGGATAAAGAAAAACATGAGACTTACTGCTCAAAAAACGGTTTTTAACCCATCGGTTTTGTTTCTGGGCATATCTCTTAGTTACTTGTTTCAGAGCCTCAATACCTGAAAGATACAGTAGATTTAAGAACATCTAGGTAAGCACTCCTTACCCTGCAGAGAGGCAGGCCCTCCCAGCCCAGCAGGAAAAAGTCAGCCACGGCAGTGCAATGTCAGACTTGGTGGACAAAAATCTCAGTTCTGAGCTGAAGGCTATTTGGGACGCTTTAAGCCTTGGCTCTTTCTCAGACCATACCAGCAGAGTACCCTGCCACCCAAAGATGTCCAAGACTAGATTAGATGGAAGAATTCACACCTTTCTTTAGAAGCTGGTTACTAGTCTCCAGTGTGCATTTTCCCTCAGTGATCAGGTACTCGTGAAATTCCTTGAAGCCAATTGATTGGAAGATACCATGTTGATAGTCCTGGCTGGGAACAGGAGGGTATCAGCAGATAAGCCATTGCTCCTAAAAGCTAGCAGGGGCTTTGGAGATGGACCTAGTTGAGCCATTTCATCTGTCAGATAAGGAAATTGAGATCCTGAGCAGTTACTGATTCTCTGAAATTTTCCCCTCCCCTACCCACCAGGTTACTTTCTTGAAAAGTTAACTCCTGGGACTGTCTGAAAGATTAAAAAACTGCATCTGCAAAGAAGGCTGATAAACAAGTAGACCCAAAGCCAGTATTAGCGTTATGGTCTTTTGATTGTCTGCAAAATATGGACAGTAGGTCAGAATAACAGCCAAATCCTCACCTATTTTCCGAAACATTCTTCTGATTATAGCGTCTGTGAAAATCTCTTAGTTCCTCCAAGAGCCCAGCAGCAAGCATGTCATCCACCCTCTTATCCAAGCGCTCATCTAGAACTTGAATCAAATTAGCCCATCAACCAGCAAGCAAGTTGTAGGTACCTACTATATACTTACATGACGAGTGAACAGGTGGTCACAAAAAAAGAGAATTTGTCCAAACGGAAGAAAGAATTCAGATTCCAAAGATTATTATAATAATTCATACGTTACTCACATTTAAGACTTTGCAACTCCAAATAAAAATGAAGCATAGTCAGAATGAAGCACATGCCTCCTCATTATATAGAGAAAGCATACAATTACAGCAACTGTGAAGGACAAATATTTTATTCTCATATGGAATGTGTTTTAGAGGTGGCTGAGGATCCCCTGGTTTACCTTTCTTATTTTTAATTTAATATGTCATTATACTGCAACTTAGTGTTACTTTATGTTTAAGAACCCCTAGATGACACCTTGGATAAGAACATGGAACTTTAATCCAAAGACATCCTAGATACGGCCGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAAGAGTTCGAGACCAGCCTGACCAACACAGTGAAATCTGTCTCTACCAAAAGTACAAAAATTAGCTGGGCGTAGTGGCGCGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCATTCCAGCCTGGGCAACAGGGCGAGACTCTGTCTCAAACAAAAAAAAAAGACATCCTAGATACATTCTAAACTACTGAGCCAAGCAAAGGAGCAAAGAGTGAGAGGTCGTAATTGTTCAGATGTGACAAACAGCTTTACTATGAATCAGATACCATTATTTTATGCTGCCTGTAGAGTAAAAGTTTTTGTTTATAAAATTTCATTATTGAAAAATTACCTTTTTTATCAATTTATGGCAGATTAATTTAACAACAGATTGTCACCATTTTAATTATGTTCTTCTACATCTCTATCATTGTGATTTATTGGCCTACAGCAACAGTAACCTTCCTAGAAAGTTTGCATTTATTGAGGACCCGTCATGTGTCAGGCACATTCTGAGCACTATATATGTATTAATTCATCTAATCCTTGATGAAGCTAGGAAATATGTGTTATTACTATTATCTCTATTTTACAGGAGAATTGGGAAACAGAAAGGTAAACTAATTTGTCTTAACAATTCACATAACTAGAA
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Task1_train_677
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This gene mutation involves TRIT1 (tRNA isopentenyltransferase 1) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Inborn genetic diseases
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AACTTCTTTTAAAAACCTGATCTAGAGGGTATTCAAGAAACACTCCCTGGCAGACACTTTTGAATGAAGATGAGACTGAAGGTAGCAAAGAGTGCAGCTACAGGTATTTCACCCACCTGAGCCAACCATGTTGCAAGAGTTTAGTCTCTGTGGTTAGCTTCCCTGCCTATATACACACTAAACTGCCTTCCACAACTAGGTTAAGTCAGTTGCCTAAAGGCAAAGGAGCATCGCCCATGGGCAAAAACATCAAAGGCCTTCGGATGCCAACGACTGGCAGGTGCTGGCCTTTTGATTGTGCCAACCCCAAATAAGATTCTTCATAAACTGGACTGGGCTGCACCTGCTACCACAGGAAAGGTGAGACTAGGAGGGTGCAGGCAGCATCCACAGCACACCTGGCCTTGGCTAAGCTCTGCACCTGTTTCCAGGCCACTCTACATTTTCCTTTCTCCTCTAAGCCCTTTGTTGGGCTTCTGTGCCCTGTCTAAGCACCTTTCAACAAGTTCTCGGCTCCCAGCTGCTATTTCTGGCTTGGGTCCAAGGCCATGCTGGGGTGGGGAAGTCCCCCTGGCTTCCTGCCAGAACCATATCCCAGCAGACCAGCCCTGGCCAATCACGCACAGCTCCTGATTTACAGGGCAGCTGTGCCTTTCACTCCAGCACCAGGACGATGCCGGCATACACACGAATGAGGAACAGGCATATGACACACTGTGCCATCAACTCCTCCTACCACAGAGATGGAGGAATTATTGTGGTTTTACTACAGGAAGAAGTTCTAAATTATTACCCAAAAGTCTTCTGTTAAAGGCTTATTGTCAGACATGGGGATAAGAGAAGCTGCATTAGAAATTTGTAATACAGCACTGAGCTTCAACTTCAGATGACACTAAGACTTCTATCTACCAGGACATGCAGAGAAAACAGGATAAGTAGAGGAAAGCACAACAAGCCTCTTCACACCAGAACTCCACTGGAGAGCTCAGGCAGAGAGTGGGAGCTGGGAGAAAGAATGTTAGCAGTTTAGTGGTCAACAGCAGGGATCAAGGTATGTATTTTCAGAGGCACCGAGTGGGGCAGAGGCTTCAGCTGGCCCTGTCTGTAATTGAGAGCAGAAGTCTACCAGCAAAAGGTAAACACAAGATGATTCAGAAGCATATTTAAAACATGTCCACAAGATAAAACTGAAGTTTCACTTATGCTTAAATTAATCTCCTTTAGCTCATAACCACATAGTTTTTACCCATGGTCCAATACTAATGCTGTCTTGCTAAAGTTACAGCTAAAGGAAGTAAGAGTAGTATAAAGGAGTGTGGACTCTGTGTCAGGCCTGCATTCAGTTATCTACTGCCGACTAGCTGGGTGATTTTTGGCAAGTTATTTAACTTCACTAGGCCTTCATTTTCTTATCTGTAAAAATAAAAGAATAACACCTACCTTGAAGACTCAATAATATATGTATAACACCAAATTTAGTGCCAAAGACACAGTACAGGGCCAAATCAATGAGAATTTCCTTTCTTTTCCCTCAAAAATGCTGTTCAACTAAAGTTTCATTTGAAGCAATCTGAAGCACCATGTGGAGACGCTGGGAGAAATGGTGAAGGTGTCTTTTTATACAACTCATCTGGCCCCCCAAAAACACTGTAATTAGGAAATCTTCCCTACAGAAATCTGACTGCTCTTCAGGTACAAAACTGAAGCTAAAAATCAGCCCTGAACACCAACTCTCCAAAAAAGATGCTGCTGTTCTTCTTAGCTGTTTGCAGCCAGTATCCATCTGTTCAAGGCAGAAGGCAGACTCCTCAATGCAAATAATTTTTTTTTTTTTTGTGACATCCCAAGAAAATATCCCTGGATAATCATTTATGTTATAGAACTTCCCTTAGGTCAGATCCAAAATCTTAGAACAGGCCCAGAATCTAAAATTCATTTTCTGGGTGAGCTGAGGACATCTATATTCTATTGAAAACAGACCCATAGGATAAAGAAAAACATGAGACTTACTGCTCAAAAAACGGTTTTTAACCCATCGGTTTTGTTTCCGGGCATATCTCTTAGTTACTTGTTTCAGAGCCTCAATACCTGAAAGATACAGTAGATTTAAGAACATCTAGGTAAGCACTCCTTACCCTGCAGAGAGGCAGGCCCTCCCAGCCCAGCAGGAAAAAGTCAGCCACGGCAGTGCAATGTCAGACTTGGTGGACAAAAATCTCAGTTCTGAGCTGAAGGCTATTTGGGACGCTTTAAGCCTTGGCTCTTTCTCAGACCATACCAGCAGAGTACCCTGCCACCCAAAGATGTCCAAGACTAGATTAGATGGAAGAATTCACACCTTTCTTTAGAAGCTGGTTACTAGTCTCCAGTGTGCATTTTCCCTCAGTGATCAGGTACTCGTGAAATTCCTTGAAGCCAATTGATTGGAAGATACCATGTTGATAGTCCTGGCTGGGAACAGGAGGGTATCAGCAGATAAGCCATTGCTCCTAAAAGCTAGCAGGGGCTTTGGAGATGGACCTAGTTGAGCCATTTCATCTGTCAGATAAGGAAATTGAGATCCTGAGCAGTTACTGATTCTCTGAAATTTTCCCCTCCCCTACCCACCAGGTTACTTTCTTGAAAAGTTAACTCCTGGGACTGTCTGAAAGATTAAAAAACTGCATCTGCAAAGAAGGCTGATAAACAAGTAGACCCAAAGCCAGTATTAGCGTTATGGTCTTTTGATTGTCTGCAAAATATGGACAGTAGGTCAGAATAACAGCCAAATCCTCACCTATTTTCCGAAACATTCTTCTGATTATAGCGTCTGTGAAAATCTCTTAGTTCCTCCAAGAGCCCAGCAGCAAGCATGTCATCCACCCTCTTATCCAAGCGCTCATCTAGAACTTGAATCAAATTAGCCCATCAACCAGCAAGCAAGTTGTAGGTACCTACTATATACTTACATGACGAGTGAACAGGTGGTCACAAAAAAAGAGAATTTGTCCAAACGGAAGAAAGAATTCAGATTCCAAAGATTATTATAATAATTCATACGTTACTCACATTTAAGACTTTGCAACTCCAAATAAAAATGAAGCATAGTCAGAATGAAGCACATGCCTCCTCATTATATAGAGAAAGCATACAATTACAGCAACTGTGAAGGACAAATATTTTATTCTCATATGGAATGTGTTTTAGAGGTGGCTGAGGATCCCCTGGTTTACCTTTCTTATTTTTAATTTAATATGTCATTATACTGCAACTTAGTGTTACTTTATGTTTAAGAACCCCTAGATGACACCTTGGATAAGAACATGGAACTTTAATCCAAAGACATCCTAGATACGGCCGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAAGAGTTCGAGACCAGCCTGACCAACACAGTGAAATCTGTCTCTACCAAAAGTACAAAAATTAGCTGGGCGTAGTGGCGCGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCATTCCAGCCTGGGCAACAGGGCGAGACTCTGTCTCAAACAAAAAAAAAAGACATCCTAGATACATTCTAAACTACTGAGCCAAGCAAAGGAGCAAAGAGTGAGAGGTCGTAATTGTTCAGATGTGACAAACAGCTTTACTATGAATCAGATACCATTATTTTATGCTGCCTGTAGAGTAAAAGTTTTTGTTTATAAAATTTCATTATTGAAAAATTACCTTTTTTATCAATTTATGGCAGATTAATTTAACAACAGATTGTCACCATTTTAATTATGTTCTTCTACATCTCTATCATTGTGATTTATTGGCCTACAGCAACAGTAACCTTCCTAGAAAGTTTGCATTTATTGAGGACCCGTCATGTGTCAGGCACATTCTGAGCACTATATATGTATTAATTCATCTAATCCTTGATGAAGCTAGGAAATATGTGTTATTACTATTATCTCTATTTTACAGGAGAATTGGGAAACAGAAAGGTAAACTAATTTGTCTTAACAATTCACATAACTAGAA
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AACTTCTTTTAAAAACCTGATCTAGAGGGTATTCAAGAAACACTCCCTGGCAGACACTTTTGAATGAAGATGAGACTGAAGGTAGCAAAGAGTGCAGCTACAGGTATTTCACCCACCTGAGCCAACCATGTTGCAAGAGTTTAGTCTCTGTGGTTAGCTTCCCTGCCTATATACACACTAAACTGCCTTCCACAACTAGGTTAAGTCAGTTGCCTAAAGGCAAAGGAGCATCGCCCATGGGCAAAAACATCAAAGGCCTTCGGATGCCAACGACTGGCAGGTGCTGGCCTTTTGATTGTGCCAACCCCAAATAAGATTCTTCATAAACTGGACTGGGCTGCACCTGCTACCACAGGAAAGGTGAGACTAGGAGGGTGCAGGCAGCATCCACAGCACACCTGGCCTTGGCTAAGCTCTGCACCTGTTTCCAGGCCACTCTACATTTTCCTTTCTCCTCTAAGCCCTTTGTTGGGCTTCTGTGCCCTGTCTAAGCACCTTTCAACAAGTTCTCGGCTCCCAGCTGCTATTTCTGGCTTGGGTCCAAGGCCATGCTGGGGTGGGGAAGTCCCCCTGGCTTCCTGCCAGAACCATATCCCAGCAGACCAGCCCTGGCCAATCACGCACAGCTCCTGATTTACAGGGCAGCTGTGCCTTTCACTCCAGCACCAGGACGATGCCGGCATACACACGAATGAGGAACAGGCATATGACACACTGTGCCATCAACTCCTCCTACCACAGAGATGGAGGAATTATTGTGGTTTTACTACAGGAAGAAGTTCTAAATTATTACCCAAAAGTCTTCTGTTAAAGGCTTATTGTCAGACATGGGGATAAGAGAAGCTGCATTAGAAATTTGTAATACAGCACTGAGCTTCAACTTCAGATGACACTAAGACTTCTATCTACCAGGACATGCAGAGAAAACAGGATAAGTAGAGGAAAGCACAACAAGCCTCTTCACACCAGAACTCCACTGGAGAGCTCAGGCAGAGAGTGGGAGCTGGGAGAAAGAATGTTAGCAGTTTAGTGGTCAACAGCAGGGATCAAGGTATGTATTTTCAGAGGCACCGAGTGGGGCAGAGGCTTCAGCTGGCCCTGTCTGTAATTGAGAGCAGAAGTCTACCAGCAAAAGGTAAACACAAGATGATTCAGAAGCATATTTAAAACATGTCCACAAGATAAAACTGAAGTTTCACTTATGCTTAAATTAATCTCCTTTAGCTCATAACCACATAGTTTTTACCCATGGTCCAATACTAATGCTGTCTTGCTAAAGTTACAGCTAAAGGAAGTAAGAGTAGTATAAAGGAGTGTGGACTCTGTGTCAGGCCTGCATTCAGTTATCTACTGCCGACTAGCTGGGTGATTTTTGGCAAGTTATTTAACTTCACTAGGCCTTCATTTTCTTATCTGTAAAAATAAAAGAATAACACCTACCTTGAAGACTCAATAATATATGTATAACACCAAATTTAGTGCCAAAGACACAGTACAGGGCCAAATCAATGAGAATTTCCTTTCTTTTCCCTCAAAAATGCTGTTCAACTAAAGTTTCATTTGAAGCAATCTGAAGCACCATGTGGAGACGCTGGGAGAAATGGTGAAGGTGTCTTTTTATACAACTCATCTGGCCCCCCAAAAACACTGTAATTAGGAAATCTTCCCTACAGAAATCTGACTGCTCTTCAGGTACAAAACTGAAGCTAAAAATCAGCCCTGAACACCAACTCTCCAAAAAAGATGCTGCTGTTCTTCTTAGCTGTTTGCAGCCAGTATCCATCTGTTCAAGGCAGAAGGCAGACTCCTCAATGCAAATAATTTTTTTTTTTTTTGTGACATCCCAAGAAAATATCCCTGGATAATCATTTATGTTATAGAACTTCCCTTAGGTCAGATCCAAAATCTTAGAACAGGCCCAGAATCTAAAATTCATTTTCTGGGTGAGCTGAGGACATCTATATTCTATTGAAAACAGACCCATAGGATAAAGAAAAACATGAGACTTACTGCTCAAAAAACGGTTTTTAACCCATCGGTTTTGTTTCTGGGCATATCTCTTAGTTACTTGTTTCAGAGCCTCAATACCTGAAAGATACAGTAGATTTAAGAACATCTAGGTAAGCACTCCTTACCCTGCAGAGAGGCAGGCCCTCCCAGCCCAGCAGGAAAAAGTCAGCCACGGCAGTGCAATGTCAGACTTGGTGGACAAAAATCTCAGTTCTGAGCTGAAGGCTATTTGGGACGCTTTAAGCCTTGGCTCTTTCTCAGACCATACCAGCAGAGTACCCTGCCACCCAAAGATGTCCAAGACTAGATTAGATGGAAGAATTCACACCTTTCTTTAGAAGCTGGTTACTAGTCTCCAGTGTGCATTTTCCCTCAGTGATCAGGTACTCGTGAAATTCCTTGAAGCCAATTGATTGGAAGATACCATGTTGATAGTCCTGGCTGGGAACAGGAGGGTATCAGCAGATAAGCCATTGCTCCTAAAAGCTAGCAGGGGCTTTGGAGATGGACCTAGTTGAGCCATTTCATCTGTCAGATAAGGAAATTGAGATCCTGAGCAGTTACTGATTCTCTGAAATTTTCCCCTCCCCTACCCACCAGGTTACTTTCTTGAAAAGTTAACTCCTGGGACTGTCTGAAAGATTAAAAAACTGCATCTGCAAAGAAGGCTGATAAACAAGTAGACCCAAAGCCAGTATTAGCGTTATGGTCTTTTGATTGTCTGCAAAATATGGACAGTAGGTCAGAATAACAGCCAAATCCTCACCTATTTTCCGAAACATTCTTCTGATTATAGCGTCTGTGAAAATCTCTTAGTTCCTCCAAGAGCCCAGCAGCAAGCATGTCATCCACCCTCTTATCCAAGCGCTCATCTAGAACTTGAATCAAATTAGCCCATCAACCAGCAAGCAAGTTGTAGGTACCTACTATATACTTACATGACGAGTGAACAGGTGGTCACAAAAAAAGAGAATTTGTCCAAACGGAAGAAAGAATTCAGATTCCAAAGATTATTATAATAATTCATACGTTACTCACATTTAAGACTTTGCAACTCCAAATAAAAATGAAGCATAGTCAGAATGAAGCACATGCCTCCTCATTATATAGAGAAAGCATACAATTACAGCAACTGTGAAGGACAAATATTTTATTCTCATATGGAATGTGTTTTAGAGGTGGCTGAGGATCCCCTGGTTTACCTTTCTTATTTTTAATTTAATATGTCATTATACTGCAACTTAGTGTTACTTTATGTTTAAGAACCCCTAGATGACACCTTGGATAAGAACATGGAACTTTAATCCAAAGACATCCTAGATACGGCCGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAAGAGTTCGAGACCAGCCTGACCAACACAGTGAAATCTGTCTCTACCAAAAGTACAAAAATTAGCTGGGCGTAGTGGCGCGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCATTCCAGCCTGGGCAACAGGGCGAGACTCTGTCTCAAACAAAAAAAAAAGACATCCTAGATACATTCTAAACTACTGAGCCAAGCAAAGGAGCAAAGAGTGAGAGGTCGTAATTGTTCAGATGTGACAAACAGCTTTACTATGAATCAGATACCATTATTTTATGCTGCCTGTAGAGTAAAAGTTTTTGTTTATAAAATTTCATTATTGAAAAATTACCTTTTTTATCAATTTATGGCAGATTAATTTAACAACAGATTGTCACCATTTTAATTATGTTCTTCTACATCTCTATCATTGTGATTTATTGGCCTACAGCAACAGTAACCTTCCTAGAAAGTTTGCATTTATTGAGGACCCGTCATGTGTCAGGCACATTCTGAGCACTATATATGTATTAATTCATCTAATCCTTGATGAAGCTAGGAAATATGTGTTATTACTATTATCTCTATTTTACAGGAGAATTGGGAAACAGAAAGGTAAACTAATTTGTCTTAACAATTCACATAACTAGAA
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Task1_train_678
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This mutation occurs in MFSD2A (MFSD2 lysolipid transporter A, lysophospholipid) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Microcephaly 15, primary, autosomal recessive
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ACCTACAGCTACCTGACCCCCGACCTCTGGAAGGAGACTGTATTCACCAAGTCTCCCGATCAGGAATTCACTGACCACCTCATCAAGACCCACCAGGCTCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAGAAGTAAAGTGAATTAAGCCTGTTAAAAAAAAAATGTTTACGAGACAGAGTCTTGCTATGTTGCACAGGCTGGACTCAAACTCCTGGGGAAAAGCAATCCTCTTGCCTCAGTTTCCCAAGTAGCTGGGATAACAGGCATGTGCCACTGCCATTACAGCCATTTTTAAGTGTACAGTTCAGTGGCATTAAATACATTCACTTTGGTTTTTTTGTTTTTGTTTTTGGTACAGTAGGGATACAAACCTGTCGGTTCTCTAATATTTCTTTTTTGGGCAGTGCAGTTTTAACATTCCACATTAAGGATGTAATAATCAAGGAGTTTGTTTGTTTGTTTGAGACAGGGCCTCACTCCGTCACCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCCGCTTCAGCCTCCCGAGGAGCTGGGACTACAGGTGTGCGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTAGAGACGGAGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACTTGACTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTAGCCTAAGTACATTCACTTTGTCGCCACCATCACCACCATCCATCCATTACATCCTTCCAAAGCGAAATTATGCAATATTTATCTTTTTGTGTCTTGCTGATTTTCCTTGGCTTAATGTCTACAAGGTTCATCTATGTTGTAGCATGTGTCAGAATTTTATTCCTTATGAAGGTTGAATGGTATATATAACTTTTAAATTATGTCAACTTTTCTGTTTGCCAACTAGTATGTAAGTTCCACAAGGGCAATGATTTTTTATCTGTTCTCTAGTTATCCTAAGTAATTAGAATAGCGCCCAGCCCATAGCTGGAACTTATGAGGAAATGAGGAAACGAGCTTCAGATAATTTAAATAACTTCCCAAGACTAAGTTTTATAGTTAGTTGGTGGAGCTAGAATGGAATCCCTGAAGAGTGGCTCAAAGGCCTTTCTCTTTACCATGGCCTGTGCTGCCTTGCTATACTGATGCCATGAAGTTAGTCCATCCTGAGGTCTAACCCCTTTTGATGGTGTGGAACTCACATGGGGAAGGCGGACATTTGCCCACCTGGGCCTTCAACTCCTTCACTTGGAGCTGGCCTCTCCCCATCATGCCAGCTTCCCTGTGTGTGAATGGGTGTGTGTGTGTGTGTGAATGGGGTGTGTGAAGTGTGTATGTGAATGGGGGTGTGTGTGAATGGGGTGTGTGTGTGTGAATGATGTGTGTGTGAATGAGGTGTGTGTGAATGGGGTGTGTGTGTGTGTGAATGAGGTGTGTGTGTGAATGGGGTGTGTGTGTGAATGGGGTGTGTGTGTGCGGTTGATGACTATCCGTGTGAGAACACGGGAGTTGGGGCTGCTCCTTCTCTTTGCCTCCTTGCCCAGGCACCTGAGGTCTTGGACTCCTGTCCTAACTCTCAGCCCATTAGAGGCTGCTGCCTCTGGACTAGACTCAGGCTCTGACCTCACACTCCATGCCTAGGATTTCAGTCTGGGGTCCCAGTTCCCATCTGCCATTCCGGGCTTGGTCATCAGCCTCTTCCCAGAGGCCCAGGATGGGTGGATTTGGCAGGAGTATGGGGAAGGAAGGAAGAGCTTAGCTTCCTTCCCTGTGGGGACCCTGTGAGGCACAGCAGACTGGGCTGGGCCTGGTCCTGGGCTCCAGCCTCCAGCCTCCACTCACACCCTCCTCTTCCTCAGGATCATCTTCTCCACGCCCCTGGCCGTCATTGCCTACTTCCTCATCTGGTTCGTGCCCGACTTCCCACACGGCCAGACCTATTGGTACCTGCTTTTCTATTGCCTCTTTGAAACAATGGTCACGGTGAGTGTGGGTACCTCCCTTGGGTGTCTCTAGGGGCCGGGAGGAGGGCGGTCCTTGGGGCCCCCAGGGTTGGTACTGGAAGCTACATCAGTGTGTCCACCCGCCTGACCAGCCAATGACCTGTCTTCTATGCCAGTGTTTCCATGTTCCCTACTCGGCTCTCACCATGTTCATCAGCACCGAGCAGACTGAGCGGGATTCTGCCACCGCCTATCGTGAGTCTCCCCAGCCCACCTGACCCCACCCTCCAGGGACCCTCCAGCCATACTTCTTCCCTTGCGGGTCCAGCTCTTTGCTCTGCTCTAGAGTGTGGGTGTGAAACCATCTTAAAAATAACTCAATCCCCTTATTGCTCAGATGAGACCTGGAGAGGTGCATATGCGTTCAAACCAAGGTGTCACCTACCCCACTACCTCTACCCACCCTGCCTGGAGCTACCGCTGGGCTCCCACCCATTTGACCTTCCTCCCTGGGCCCACAATCCATGAGGCCCCTCCAAAACACCTCCTTTTCTCCTGCCAGGGATGACTGTGGAAGTGCTGGGCACAGTGCTGGGCACGGCGATCCAGGGACAAATCGTGGGCCAAGCAGACACGCCTTGTTTCCAGGACCTCAATAGCTCTACAGTAGCTTCACAAAGTGCCAACCATACACATGGCACCACCTCACACAGGGAAACGGTGAGGCCCTGGGCAGGGCAGGGATTTGGGGAGATAAGGAACAGTGAGGTGGTTTGTAGTCATCCTAAAGATAGTAACAGCTAGTGTTTATTAAATAAATGTTGGGCATTTGATATACATAACAATTAATGCACCCAATATACCTACTTTGCAGAAAAAGAAACTGAAGCTTAGAGAGGCTGAATAAGTTGCCCAGAGTCATAAAGTTAGTGAATTGCAGAGATTTGGGAAGATTTGAATTCTGGGCTGTCAGACTCTGCAGCCTGGTTTCTGTTTTTTTCCTTTTATTATTATTTGTAGAGACGGGGTCTTGCCAAGTTGCCCAGGCTGGTTTCAAACTCCTGGGATTACAGGTGTGAGGGCTGCACTCAACCAGCCTGGTTTCTGAGCATGTTGTGAATCTTAACTGTCCAGCCTTGGGAAGCAACAGCAGGCCCAGGATGATCCTCCCATTTCACACATGGAGACAGTACGCTCCCAGAGGGGAGGGGACTGGCCCAAGATCATTGAGTGGGGCTGCTGGAACTGGGGTGCTGGGATGAGCTCAAACTGACCATCCTTGTATGTCGCCTTCACCTCCTTATAGCAAAAGGCATACCTGCTGGCAGCGGGGGTCATTGTCTGTATCTATATAATCTGTGCTGTCATCCTGATCCTGGGCGTGCGGGAGCAGAGAGGTAAGGGGGTGCCTGGGAAGGGGTGCAGGCCTCAGCATGGACAGCTGTATCTTTCTGCCTGGCCCTCAGGCTTTGGGAGGGGTCTCTGCTCCTTCCTCACTGTCCGCTCTGGCCCCCAGAACCCTATGAAGCCCAGCAGTCTGAGCCAATCGCCTACTTCCGGGGCCTACGGCTGGTCATGAGCCACGGCCCATACATCAAACTTATTACTGGCTTCCTCTTCACCTCCTTGGCTTTCATGGTGAGTGGGTTCTGACATGCTCAGCCTGAGAAGGAGGTGTAATGGGAGCGGGGTGAGCAGAGGTCTCTGGGGCTTGGGGGATGTCTTGGGGAGGCTCAGCCCCAACATCACCTCCTTCCTTGCATTTCCTTCCCTACCTTGCTCCATGCCCAGCTGGTGGAGGGGAACTTTGTCTTGTTTTGCACCTACACCTTGGGCTTCCGCAATGAATTCCAGAATCTACTCCTGGCCATCATGGTGAGTGGGACCTGAGCAGGGGCGGGCAGCCTGGGCTGAGGTGACATAGGCTGTGGAATGGTTCTTGGAATAGGCAGAGGATGTTTCTCAGGCTGGCCCAAGGTCATGAAAGGATGAGGGAGGCTTCTCAGGGTATTTGGTTGGACCTTGCGAAGGTAGGACTGTGAAAGAAAGAGTTTGAGGTTAGATGTTTGAGTAGTGAGCACAGCAA
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ACCTACAGCTACCTGACCCCCGACCTCTGGAAGGAGACTGTATTCACCAAGTCTCCCGATCAGGAATTCACTGACCACCTCATCAAGACCCACCAGGCTCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAGAAGTAAAGTGAATTAAGCCTGTTAAAAAAAAAATGTTTACGAGACAGAGTCTTGCTATGTTGCACAGGCTGGACTCAAACTCCTGGGGAAAAGCAATCCTCTTGCCTCAGTTTCCCAAGTAGCTGGGATAACAGGCATGTGCCACTGCCATTACAGCCATTTTTAAGTGTACAGTTCAGTGGCATTAAATACATTCACTTTGGTTTTTTTGTTTTTGTTTTTGGTACAGTAGGGATACAAACCTGTCGGTTCTCTAATATTTCTTTTTTGGGCAGTGCAGTTTTAACATTCCACATTAAGGATGTAATAATCAAGGAGTTTGTTTGTTTGTTTGAGACAGGGCCTCACTCCGTCACCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCCGCTTCAGCCTCCCGAGGAGCTGGGACTACAGGTGTGCGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTAGAGACGGAGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACTTGACTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTAGCCTAAGTACATTCACTTTGTCGCCACCATCACCACCATCCATCCATTACATCCTTCCAAAGCGAAATTATGCAATATTTATCTTTTTGTGTCTTGCTGATTTTCCTTGGCTTAATGTCTACAAGGTTCATCTATGTTGTAGCATGTGTCAGAATTTTATTCCTTATGAAGGTTGAATGGTATATATAACTTTTAAATTATGTCAACTTTTCTGTTTGCCAACTAGTATGTAAGTTCCACAAGGGCAATGATTTTTTATCTGTTCTCTAGTTATCCTAAGTAATTAGAATAGCGCCCAGCCCATAGCTGGAACTTATGAGGAAATGAGGAAACGAGCTTCAGATAATTTAAATAACTTCCCAAGACTAAGTTTTATAGTTAGTTGGTGGAGCTAGAATGGAATCCCTGAAGAGTGGCTCAAAGGCCTTTCTCTTTACCATGGCCTGTGCTGCCTTGCTATACTGATGCCATGAAGTTAGTCCATCCTGAGGTCTAACCCCTTTTGATGGTGTGGAACTCACATGGGGAAGGCGGACATTTGCCCACCTGGGCCTTCAACTCCTTCACTTGGAGCTGGCCTCTCCCCATCATGCCAGCTTCCCTGTGTGTGAATGGGTGTGTGTGTGTGTGTGAATGGGGTGTGTGAAGTGTGTATGTGAATGGGGGTGTGTGTGAATGGGGTGTGTGTGTGTGAATGATGTGTGTGTGAATGAGGTGTGTGTGAATGGGGTGTGTGTGTGTGTGAATGAGGTGTGTGTGTGAATGGGGTGTGTGTGTGAATGGGGTGTGTGTGTGCGGTTGATGACTATCCGTGTGAGAACACGGGAGTTGGGGCTGCTCCTTCTCTTTGCCTCCTTGCCCAGGCACCTGAGGTCTTGGACTCCTGTCCTAACTCTCAGCCCATTAGAGGCTGCTGCCTCTGGACTAGACTCAGGCTCTGACCTCACACTCCATGCCTAGGATTTCAGTCTGGGGTCCCAGTTCCCATCTGCCATTCCGGGCTTGGTCATCAGCCTCTTCCCAGAGGCCCAGGATGGGTGGATTTGGCAGGAGTATGGGGAAGGAAGGAAGAGCTTAGCTTCCTTCCCTGTGGGGACCCTGTGAGGCACAGCAGACTGGGCTGGGCCTGGTCCTGGGCTCCAGCCTCCAGCCTCCACTCACACCCTCCTCTTCCTCAGGATCATCTTCTCCACGCCCCTGGCCGTCATTGCCTACTTCCTCATCTGGTTCGTGCCCGACTTCCCACACGGCCAGACCTATTGGTACCTGCTTTTCTATTGCCTCTTTGAAACAATGGTCATGGTGAGTGTGGGTACCTCCCTTGGGTGTCTCTAGGGGCCGGGAGGAGGGCGGTCCTTGGGGCCCCCAGGGTTGGTACTGGAAGCTACATCAGTGTGTCCACCCGCCTGACCAGCCAATGACCTGTCTTCTATGCCAGTGTTTCCATGTTCCCTACTCGGCTCTCACCATGTTCATCAGCACCGAGCAGACTGAGCGGGATTCTGCCACCGCCTATCGTGAGTCTCCCCAGCCCACCTGACCCCACCCTCCAGGGACCCTCCAGCCATACTTCTTCCCTTGCGGGTCCAGCTCTTTGCTCTGCTCTAGAGTGTGGGTGTGAAACCATCTTAAAAATAACTCAATCCCCTTATTGCTCAGATGAGACCTGGAGAGGTGCATATGCGTTCAAACCAAGGTGTCACCTACCCCACTACCTCTACCCACCCTGCCTGGAGCTACCGCTGGGCTCCCACCCATTTGACCTTCCTCCCTGGGCCCACAATCCATGAGGCCCCTCCAAAACACCTCCTTTTCTCCTGCCAGGGATGACTGTGGAAGTGCTGGGCACAGTGCTGGGCACGGCGATCCAGGGACAAATCGTGGGCCAAGCAGACACGCCTTGTTTCCAGGACCTCAATAGCTCTACAGTAGCTTCACAAAGTGCCAACCATACACATGGCACCACCTCACACAGGGAAACGGTGAGGCCCTGGGCAGGGCAGGGATTTGGGGAGATAAGGAACAGTGAGGTGGTTTGTAGTCATCCTAAAGATAGTAACAGCTAGTGTTTATTAAATAAATGTTGGGCATTTGATATACATAACAATTAATGCACCCAATATACCTACTTTGCAGAAAAAGAAACTGAAGCTTAGAGAGGCTGAATAAGTTGCCCAGAGTCATAAAGTTAGTGAATTGCAGAGATTTGGGAAGATTTGAATTCTGGGCTGTCAGACTCTGCAGCCTGGTTTCTGTTTTTTTCCTTTTATTATTATTTGTAGAGACGGGGTCTTGCCAAGTTGCCCAGGCTGGTTTCAAACTCCTGGGATTACAGGTGTGAGGGCTGCACTCAACCAGCCTGGTTTCTGAGCATGTTGTGAATCTTAACTGTCCAGCCTTGGGAAGCAACAGCAGGCCCAGGATGATCCTCCCATTTCACACATGGAGACAGTACGCTCCCAGAGGGGAGGGGACTGGCCCAAGATCATTGAGTGGGGCTGCTGGAACTGGGGTGCTGGGATGAGCTCAAACTGACCATCCTTGTATGTCGCCTTCACCTCCTTATAGCAAAAGGCATACCTGCTGGCAGCGGGGGTCATTGTCTGTATCTATATAATCTGTGCTGTCATCCTGATCCTGGGCGTGCGGGAGCAGAGAGGTAAGGGGGTGCCTGGGAAGGGGTGCAGGCCTCAGCATGGACAGCTGTATCTTTCTGCCTGGCCCTCAGGCTTTGGGAGGGGTCTCTGCTCCTTCCTCACTGTCCGCTCTGGCCCCCAGAACCCTATGAAGCCCAGCAGTCTGAGCCAATCGCCTACTTCCGGGGCCTACGGCTGGTCATGAGCCACGGCCCATACATCAAACTTATTACTGGCTTCCTCTTCACCTCCTTGGCTTTCATGGTGAGTGGGTTCTGACATGCTCAGCCTGAGAAGGAGGTGTAATGGGAGCGGGGTGAGCAGAGGTCTCTGGGGCTTGGGGGATGTCTTGGGGAGGCTCAGCCCCAACATCACCTCCTTCCTTGCATTTCCTTCCCTACCTTGCTCCATGCCCAGCTGGTGGAGGGGAACTTTGTCTTGTTTTGCACCTACACCTTGGGCTTCCGCAATGAATTCCAGAATCTACTCCTGGCCATCATGGTGAGTGGGACCTGAGCAGGGGCGGGCAGCCTGGGCTGAGGTGACATAGGCTGTGGAATGGTTCTTGGAATAGGCAGAGGATGTTTCTCAGGCTGGCCCAAGGTCATGAAAGGATGAGGGAGGCTTCTCAGGGTATTTGGTTGGACCTTGCGAAGGTAGGACTGTGAAAGAAAGAGTTTGAGGTTAGATGTTTGAGTAGTGAGCACAGCAA
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Task1_train_679
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This variant lies on Chromosome 1 and affects the gene MFSD2A (MFSD2 lysolipid transporter A, lysophospholipid). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Microcephaly 15, primary, autosomal recessive
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AGGGACCCTCCAGCCATACTTCTTCCCTTGCGGGTCCAGCTCTTTGCTCTGCTCTAGAGTGTGGGTGTGAAACCATCTTAAAAATAACTCAATCCCCTTATTGCTCAGATGAGACCTGGAGAGGTGCATATGCGTTCAAACCAAGGTGTCACCTACCCCACTACCTCTACCCACCCTGCCTGGAGCTACCGCTGGGCTCCCACCCATTTGACCTTCCTCCCTGGGCCCACAATCCATGAGGCCCCTCCAAAACACCTCCTTTTCTCCTGCCAGGGATGACTGTGGAAGTGCTGGGCACAGTGCTGGGCACGGCGATCCAGGGACAAATCGTGGGCCAAGCAGACACGCCTTGTTTCCAGGACCTCAATAGCTCTACAGTAGCTTCACAAAGTGCCAACCATACACATGGCACCACCTCACACAGGGAAACGGTGAGGCCCTGGGCAGGGCAGGGATTTGGGGAGATAAGGAACAGTGAGGTGGTTTGTAGTCATCCTAAAGATAGTAACAGCTAGTGTTTATTAAATAAATGTTGGGCATTTGATATACATAACAATTAATGCACCCAATATACCTACTTTGCAGAAAAAGAAACTGAAGCTTAGAGAGGCTGAATAAGTTGCCCAGAGTCATAAAGTTAGTGAATTGCAGAGATTTGGGAAGATTTGAATTCTGGGCTGTCAGACTCTGCAGCCTGGTTTCTGTTTTTTTCCTTTTATTATTATTTGTAGAGACGGGGTCTTGCCAAGTTGCCCAGGCTGGTTTCAAACTCCTGGGATTACAGGTGTGAGGGCTGCACTCAACCAGCCTGGTTTCTGAGCATGTTGTGAATCTTAACTGTCCAGCCTTGGGAAGCAACAGCAGGCCCAGGATGATCCTCCCATTTCACACATGGAGACAGTACGCTCCCAGAGGGGAGGGGACTGGCCCAAGATCATTGAGTGGGGCTGCTGGAACTGGGGTGCTGGGATGAGCTCAAACTGACCATCCTTGTATGTCGCCTTCACCTCCTTATAGCAAAAGGCATACCTGCTGGCAGCGGGGGTCATTGTCTGTATCTATATAATCTGTGCTGTCATCCTGATCCTGGGCGTGCGGGAGCAGAGAGGTAAGGGGGTGCCTGGGAAGGGGTGCAGGCCTCAGCATGGACAGCTGTATCTTTCTGCCTGGCCCTCAGGCTTTGGGAGGGGTCTCTGCTCCTTCCTCACTGTCCGCTCTGGCCCCCAGAACCCTATGAAGCCCAGCAGTCTGAGCCAATCGCCTACTTCCGGGGCCTACGGCTGGTCATGAGCCACGGCCCATACATCAAACTTATTACTGGCTTCCTCTTCACCTCCTTGGCTTTCATGGTGAGTGGGTTCTGACATGCTCAGCCTGAGAAGGAGGTGTAATGGGAGCGGGGTGAGCAGAGGTCTCTGGGGCTTGGGGGATGTCTTGGGGAGGCTCAGCCCCAACATCACCTCCTTCCTTGCATTTCCTTCCCTACCTTGCTCCATGCCCAGCTGGTGGAGGGGAACTTTGTCTTGTTTTGCACCTACACCTTGGGCTTCCGCAATGAATTCCAGAATCTACTCCTGGCCATCATGGTGAGTGGGACCTGAGCAGGGGCGGGCAGCCTGGGCTGAGGTGACATAGGCTGTGGAATGGTTCTTGGAATAGGCAGAGGATGTTTCTCAGGCTGGCCCAAGGTCATGAAAGGATGAGGGAGGCTTCTCAGGGTATTTGGTTGGACCTTGCGAAGGTAGGACTGTGAAAGAAAGAGTTTGAGGTTAGATGTTTGAGTAGTGAGCACAGCAAAAGCAAGGGCGAGGACACCAGGAACTTGGCTCAGAGGTTTGAGAGGGCAGCAGACAAGGTGGGCCTGGACCAGCTCTGAGCTCCCCTGGGGAGCCGTCAAAGGTGCCTGTCATCTTCGTTGCTGCCCACATGATGTCATCTGGCTGCTCTTGGGCAGGGCTGGGAGCCACTTTGGGGTTCTGGGAAGGGCAGGAGGGGCTCTGTGGCTCTAAAGCACCTCCCTTTAACCCCCTTTGTCCATCCACAGCTCTCGGCCACTTTAACCATTCCCATCTGGCAGTGGTTCTTGACCCGGTTTGGCAAGAAGACAGCTGTATATGTTGGGATCTCAGTGAGTGGGGTTGAAGAGCAGAGCCTGGGTTGAGTTGGGATGTCTGGTGGGAACCTCCCAGCTGATTCATCTTCCTGCACCCCCTTCCCTAGTCAGCAGTGCCATTTCTCATCTTGGTGGCCCTCATGGAGAGTAACCTCATCATTACATATGCGGTAGCTGTGGCAGCTGGCATCAGTGTGGCAGCTGCCTTCTTACTACCCTGGTAGGTATATACAGGCCCCCCTCCTCGGGTATCTCCAGCCCCTAGTCCCCAGTTTTGAAGCTCCTTAGGGAGAGTTCTATGCAGTGTTCTCCCACAGGCCATTCTGTGGGTCCAGGTTAGGAGTGGGGGAGGTCTGTCCTGTACAGTTGTACAGGTAGTGAGCTTTGCAAGAACACCTAGTCAGAGTGAAAAATGGGGGCTGTAATCTGGCCTGGGCTCCACTTGCCACGCTGAGCACCTCCAGGCAGGGTTACTTCCTCTTAGAGCAAGAGGCCTTTTCTTATTCATGTGAAGGTCCCATATCCTCACTGAGCTGTGTACCCATGGTACTGCAAGCTTCCAGAGGGCCACCTCTTCTCATTAACACAGAGGCCCGTTAGGTGGGTCAGTCCTCATGGCTGTCACTACTCTGCGCAGGTCCATGCTGCCTGATGTCATTGACGACTTCCATCTGAAGCAGCCCCACTTCCATGGAACCGAGCCCATCTTCTTCTCCTTCTATGTCTTCTTCACCAAGTTTGCCTCTGGAGTGTCACTGGGCATTTCTACCCTCAGTCTGGAGTGAGTGGGGTGGGGACCTGGGGCAGGACTGGGCAGGGCCAGGCCCCAGGTGCCCCATCTTCACCGTTCTCCTACCCCCTGGGTCCCATAGCTTTGCAGGGTACCAGACCCGTGGCTGCTCGCAGCCGGAACGTGTCAAGTTTACACTGAACATGCTCGTGACCATGGCTCCCATAGTTCTCATCCTGCTGGGCCTGCTGCTCTTCAAAATGTACCCCATTGATGAGGAGAGGCGGCGGCAGAATAAGAAGGCCCTGCAGGCACTGAGGTGAGTGGGGAGGGGACAGGATGCTGGAGGAGGGGACGTCACTGTGTCTAAACCCTCAATTTGTGTCTCCTGTGGCCAAGTCCAGACTCACCCCCCACACATCTTCTCTGGACAGCTGTAACACTTAAGTACGCACCAGGCACTGTGTTAAGTGGTCTTACCTTTATTCAACAAATACATACTGGCTGCCTACTATGTGCTAGGCATTGACTGCTCTAGTGAACAAGACAAAAATCTCTGTCCTTAAGGAGCCTGTTATAGGACGTGTGTATCCATCACCTCCCATACCCCTCCAACAACCCTAAGTATCAGGTTCTTAGGGTTCCCCCTCTGCAGGTGAAGAAGTTGAGGTTTCAGCAGGAAGAGTACCTGGCCCAGCTGAAAGGGGCGGAGCTGGGGTTTGAGCCTCAGCATTCCGGCTCCAGAGACTGCACTCTTCATCAGCCTCCTGGCATATAGGACCTCGAGTGTGGCCTGACCCTGCATCTGGGGAAACCAGTGGGCAGGCTGGAGTGAGTCATGCCAGCCCGTCAGCCAGCCCAGGCGAGAGTGTAGATCTAGGGTTTGCAGTACCCTGTGTGCAGCAAGGACAGTAAACAGACCAACCAACAGTTGAAAGTGGGAGTGAGCAAACTCTGTGTCCCGCGGTTCACTTTAGTCCGACAGCAGGGCCAAGATCACGTGAGGAAGGAGGCAGGTGGGGCTGAGGAGGGGTAAGGATGGATGCTTCCTCCAACCCATCTCCTCTCTCTCTTGCAGGGACGAGGCCAGCAGCTCTGGCTGCTCAGAAACAGACTCCACAGAGCTGGCTAGCATCCTCTAGGGCCCGCCACGTTGCCCGAAGCCACCATGCAGAAGGCCACAGAAGGGATCAGGACCTGTCTGCCGGCTTGCTGAGCAGCTGGACTGCAGGTGCTAGGAAGGGAACTGAAGA
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AGGGACCCTCCAGCCATACTTCTTCCCTTGCGGGTCCAGCTCTTTGCTCTGCTCTAGAGTGTGGGTGTGAAACCATCTTAAAAATAACTCAATCCCCTTATTGCTCAGATGAGACCTGGAGAGGTGCATATGCGTTCAAACCAAGGTGTCACCTACCCCACTACCTCTACCCACCCTGCCTGGAGCTACCGCTGGGCTCCCACCCATTTGACCTTCCTCCCTGGGCCCACAATCCATGAGGCCCCTCCAAAACACCTCCTTTTCTCCTGCCAGGGATGACTGTGGAAGTGCTGGGCACAGTGCTGGGCACGGCGATCCAGGGACAAATCGTGGGCCAAGCAGACACGCCTTGTTTCCAGGACCTCAATAGCTCTACAGTAGCTTCACAAAGTGCCAACCATACACATGGCACCACCTCACACAGGGAAACGGTGAGGCCCTGGGCAGGGCAGGGATTTGGGGAGATAAGGAACAGTGAGGTGGTTTGTAGTCATCCTAAAGATAGTAACAGCTAGTGTTTATTAAATAAATGTTGGGCATTTGATATACATAACAATTAATGCACCCAATATACCTACTTTGCAGAAAAAGAAACTGAAGCTTAGAGAGGCTGAATAAGTTGCCCAGAGTCATAAAGTTAGTGAATTGCAGAGATTTGGGAAGATTTGAATTCTGGGCTGTCAGACTCTGCAGCCTGGTTTCTGTTTTTTTCCTTTTATTATTATTTGTAGAGACGGGGTCTTGCCAAGTTGCCCAGGCTGGTTTCAAACTCCTGGGATTACAGGTGTGAGGGCTGCACTCAACCAGCCTGGTTTCTGAGCATGTTGTGAATCTTAACTGTCCAGCCTTGGGAAGCAACAGCAGGCCCAGGATGATCCTCCCATTTCACACATGGAGACAGTACGCTCCCAGAGGGGAGGGGACTGGCCCAAGATCATTGAGTGGGGCTGCTGGAACTGGGGTGCTGGGATGAGCTCAAACTGACCATCCTTGTATGTCGCCTTCACCTCCTTATAGCAAAAGGCATACCTGCTGGCAGCGGGGGTCATTGTCTGTATCTATATAATCTGTGCTGTCATCCTGATCCTGGGCGTGCGGGAGCAGAGAGGTAAGGGGGTGCCTGGGAAGGGGTGCAGGCCTCAGCATGGACAGCTGTATCTTTCTGCCTGGCCCTCAGGCTTTGGGAGGGGTCTCTGCTCCTTCCTCACTGTCCGCTCTGGCCCCCAGAACCCTATGAAGCCCAGCAGTCTGAGCCAATCGCCTACTTCCGGGGCCTACGGCTGGTCATGAGCCACGGCCCATACATCAAACTTATTACTGGCTTCCTCTTCACCTCCTTGGCTTTCATGGTGAGTGGGTTCTGACATGCTCAGCCTGAGAAGGAGGTGTAATGGGAGCGGGGTGAGCAGAGGTCTCTGGGGCTTGGGGGATGTCTTGGGGAGGCTCAGCCCCAACATCACCTCCTTCCTTGCATTTCCTTCCCTACCTTGCTCCATGCCCAGCTGGTGGAGGGGAACTTTGTCTTGTTTTGCACCTACACCTTGGGCTTCCGCAATGAATTCCAGAATCTACTCCTGGCCATCATGGTGAGTGGGACCTGAGCAGGGGCGGGCAGCCTGGGCTGAGGTGACATAGGCTGTGGAATGGTTCTTGGAATAGGCAGAGGATGTTTCTCAGGCTGGCCCAAGGTCATGAAAGGATGAGGGAGGCTTCTCAGGGTATTTGGTTGGACCTTGCGAAGGTAGGACTGTGAAAGAAAGAGTTTGAGGTTAGATGTTTGAGTAGTGAGCACAGCAAAAGCAAGGGCGAGGACACCAGGAACTTGGCTCAGAGGTTTGAGAGGGCAGCAGACAAGGTGGGCCTGGACCAGCTCTGAGCTCCCCTGGGGAGCCGTCAAAGGTGCCTGTCATCTTCGTTGCTGCCCACATGATGTCATCTGGCTGCTCTTGGGCAGGGCTGGGAGCCACTTTGGGGTTCTGGGAAGGGCAGGAGGGGCTCTGTGGCTCTAAAGCACCTCCCTTTAACCCCCTTTGTCCATCCACAGCTCTTGGCCACTTTAACCATTCCCATCTGGCAGTGGTTCTTGACCCGGTTTGGCAAGAAGACAGCTGTATATGTTGGGATCTCAGTGAGTGGGGTTGAAGAGCAGAGCCTGGGTTGAGTTGGGATGTCTGGTGGGAACCTCCCAGCTGATTCATCTTCCTGCACCCCCTTCCCTAGTCAGCAGTGCCATTTCTCATCTTGGTGGCCCTCATGGAGAGTAACCTCATCATTACATATGCGGTAGCTGTGGCAGCTGGCATCAGTGTGGCAGCTGCCTTCTTACTACCCTGGTAGGTATATACAGGCCCCCCTCCTCGGGTATCTCCAGCCCCTAGTCCCCAGTTTTGAAGCTCCTTAGGGAGAGTTCTATGCAGTGTTCTCCCACAGGCCATTCTGTGGGTCCAGGTTAGGAGTGGGGGAGGTCTGTCCTGTACAGTTGTACAGGTAGTGAGCTTTGCAAGAACACCTAGTCAGAGTGAAAAATGGGGGCTGTAATCTGGCCTGGGCTCCACTTGCCACGCTGAGCACCTCCAGGCAGGGTTACTTCCTCTTAGAGCAAGAGGCCTTTTCTTATTCATGTGAAGGTCCCATATCCTCACTGAGCTGTGTACCCATGGTACTGCAAGCTTCCAGAGGGCCACCTCTTCTCATTAACACAGAGGCCCGTTAGGTGGGTCAGTCCTCATGGCTGTCACTACTCTGCGCAGGTCCATGCTGCCTGATGTCATTGACGACTTCCATCTGAAGCAGCCCCACTTCCATGGAACCGAGCCCATCTTCTTCTCCTTCTATGTCTTCTTCACCAAGTTTGCCTCTGGAGTGTCACTGGGCATTTCTACCCTCAGTCTGGAGTGAGTGGGGTGGGGACCTGGGGCAGGACTGGGCAGGGCCAGGCCCCAGGTGCCCCATCTTCACCGTTCTCCTACCCCCTGGGTCCCATAGCTTTGCAGGGTACCAGACCCGTGGCTGCTCGCAGCCGGAACGTGTCAAGTTTACACTGAACATGCTCGTGACCATGGCTCCCATAGTTCTCATCCTGCTGGGCCTGCTGCTCTTCAAAATGTACCCCATTGATGAGGAGAGGCGGCGGCAGAATAAGAAGGCCCTGCAGGCACTGAGGTGAGTGGGGAGGGGACAGGATGCTGGAGGAGGGGACGTCACTGTGTCTAAACCCTCAATTTGTGTCTCCTGTGGCCAAGTCCAGACTCACCCCCCACACATCTTCTCTGGACAGCTGTAACACTTAAGTACGCACCAGGCACTGTGTTAAGTGGTCTTACCTTTATTCAACAAATACATACTGGCTGCCTACTATGTGCTAGGCATTGACTGCTCTAGTGAACAAGACAAAAATCTCTGTCCTTAAGGAGCCTGTTATAGGACGTGTGTATCCATCACCTCCCATACCCCTCCAACAACCCTAAGTATCAGGTTCTTAGGGTTCCCCCTCTGCAGGTGAAGAAGTTGAGGTTTCAGCAGGAAGAGTACCTGGCCCAGCTGAAAGGGGCGGAGCTGGGGTTTGAGCCTCAGCATTCCGGCTCCAGAGACTGCACTCTTCATCAGCCTCCTGGCATATAGGACCTCGAGTGTGGCCTGACCCTGCATCTGGGGAAACCAGTGGGCAGGCTGGAGTGAGTCATGCCAGCCCGTCAGCCAGCCCAGGCGAGAGTGTAGATCTAGGGTTTGCAGTACCCTGTGTGCAGCAAGGACAGTAAACAGACCAACCAACAGTTGAAAGTGGGAGTGAGCAAACTCTGTGTCCCGCGGTTCACTTTAGTCCGACAGCAGGGCCAAGATCACGTGAGGAAGGAGGCAGGTGGGGCTGAGGAGGGGTAAGGATGGATGCTTCCTCCAACCCATCTCCTCTCTCTCTTGCAGGGACGAGGCCAGCAGCTCTGGCTGCTCAGAAACAGACTCCACAGAGCTGGCTAGCATCCTCTAGGGCCCGCCACGTTGCCCGAAGCCACCATGCAGAAGGCCACAGAAGGGATCAGGACCTGTCTGCCGGCTTGCTGAGCAGCTGGACTGCAGGTGCTAGGAAGGGAACTGAAGA
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Task1_train_680
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The gene PPT1 (palmitoyl-protein thioesterase 1) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Neuronal ceroid lipofuscinosis 1
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ACATGAGGTTTCTCTTGTTGTTTGGAAACCATAAGGTTTCAGGATGTAGTGGATTTTTGTAACCCAGTGCCTAATAAGCTAGAGCACATAATCAAGAGCCTAACAAGCTTCACCCATATTGGACATGAGTCAGGTGTTTCAGGAGTACCTAGTGCTCTGAGGTGTAAAGGAAAGGGCTCCAGCACCAAAGAACATAGCAGCTTCAGGAACTGGGAGCTGAAAAAACACCAACCTCCCAAGATAGACTCCCTGCCAGTTACCTGTGTGTACAGGGAGGTCTCCTGTAAGGGAATGGTTTCCTTGGCTTGGCCACTTCTGTAAAATCCAAACCACTGCAGAAGAAGCAAAGGAAAGAAGCTCAGATATGACACACAGCACATACTGCCAAAATAATTTGAGACTGGTTAGAAGCTAAAACTGCCAACAAAGTGAACATCATAAAGCTGTAGGAAGAAGGAAAAATGGATAGGGTGCGTCTGAGTCATCTCTTCTTAAGGGTGGAGCCCGAGGGATGAGTTAATCTTTCTGAGAGGCCGCTTTCCACTTCCCCAGAATTTCTGCTTCCTAAAATTATTAAGCAATAAATGTGAAAAATTCCTGTGCTGAGCTCTAGACATTCAAGGATGAATACATAATCTGTTTCCAAAAAGCTCCCAGTCTTGCAAGGCACGGAAACAATTCACTGTTGAGTACAGAGGTCAGCAAACGTTTTTGTAAAGGCCAGATACAAAATATTTTAGGCTTTAAGGGCCATATGGTTGTAACTACTCATTGCTGCCACTGTAACAAATGCAGCCACAGACAGTATGTAAAAAGTAACTAAAACTGTTCCAATAAGGACACTGAAATTTAAATTTTACATAATCTTTATATGTCCAAATACTTGATATGTCTAAATAAATTTTACATAATCTTTATATGTCCAATTCTTTCCCCCAACCATTAAAAAATGTTAAAAACATTCTTTTATGTTAGTGTTTGGTGTTACTCGTGGGTAGCACCAAAACGGGTAGCAGGATGGACTGGGCCTGTGGGCCACAATCGGCCAATCCCTGGTGGTGTGACATAACGTGATGAGTGTTTTAACAGAGGCTGATGATTCTAAAAAAGCGATCACATTCTGCTTGGAATGGGGATGGCATCCTTGCCTTGACAGACGAATAGAAATTGTCAGGTGGAGAAGCCAAGGAAGGGCATTCTAGAGACAGAAATATATGAACCAAGGCATACGAGAGAAAAAGCACAAGTAGTACAATATGGCTTGATCAAGAGTGTATGAAGCGTGCAGACAAGGCAGATTAGGCTGGAAAATGGGGTGAAGCCAGATCAAGGCAGACCTTGGAGGCCAAGCTTAGGAATTTATATATTTTGGGCTAGTGATTCTGAACATTTTTTGGGTCTCTGATCTCTGGAAAATGGATTAAAATTATAGATCCTTCCCCAGAGAATGTAATTACATAATTTTGCATAGAATTTTGGGGTTGGGGGATTGATTACAATCTTCAGTGTCCCATTTATGGACCTCAGGTGAAGAACTGTTTTATACAAAAGTTGGTGGAAGGGACTGAAGGTTTTTTCCCCAGCAGGCAGCTGTATTTTTTCATTTCATTTCAATTTCATTTTATGTTCTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGGGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCTTCCCAAGCAGCTGGGATTACAGATGGCTGTCACCATACCCGGCTAATTTCTTTTTGTATTTTGAGTAGCGATGGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCAGCAGCCCTATTTTAATGCCATTTACTCTCCTGGCATGTGGCCTAAGTAGTGTCTCACCTCCGAATCTACAGGGTCCACAATGGAATCATTGAGGAATTTCACCATCACAAACTTCTTCAGGGCCATCAGGTTTTTCTTGTAGGACTCATTGATACCCTGAAAGAAAGGCCAGCAACACCTAAGGTCATTACCATCAGACACCAGCAGAGGGAGTAAAGCCTTCCTGTTTTCTGGTCTCCCTGACCCTGTGCCACTGTGTTTCTTCCCCATGGGTATGGGCTGTTTTCCAGCTTCCTGACCAGGATATACCTGTACAGCTTTTTTTTTTCTTTTTTTCTAAAAAACAAAATATTTTATTTTAGATTCAGGGGGGTACATGTGTAGTTTTGTTATAAGGGTATATTGTGTGATGCTGAGGTTTGGGGTTCTGTTGATCCTTTCACCCAGATAGTGAACACAGTGCCCAACAGGAAGTTTTTCAGCCCTAGCCTCTCCCTCCCAGCTTTTGGAGTCTCCAGTGTCTATTGTTCCCATCTTTATATTCACGTGTACCCAATGTTTAGCTCCCACTTATAAGTGAGAACATGTGATATTTGGTCTTCTGTTTCTGTGTTCATTTGCTTAGGATAACGGCCTCCAGCTGCATCCATGTTGCTGCAAAGAACAGGATTTCATTCTTTTTTATGACTGTGTAATATTCCATGGTGTATATGTACCACATTTTCTCTATCCAGTCTACCGCTGATGGGCACCTAGGTTGATTTCATGTCTTTGCTATGGTGAACAGTGCTGCAATAAACACGAGTGCAAGTGTCTTTTTGGCAGGACAATTTGTTTTCCTTTGGGTATATACCCAGTCACGGGATTGCTTACACAGCCTTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCGAGGCCAGAGTGCAGTGGCACCATCTCAGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGATCGCCACCACATCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTATAGGCTTTTCTTACCATCCTATCTGACTGACATGCCACTGAGCATGGCATACAGGTACAACTATGAGTTTACACCACACTCCATAGGTGTCCATCACATAGGTGAGAGGCTTCTAGTCAGAGAAAGCCAAGACAAAATAAGAAACTGCAAATTCTGGGTCGTTCTGCTATATACTATTCTGTGTTGTTTTTTGTTTGGTTTGTTTTTCCCTTCAAACTGTTTCAAAACAAAAAACCAAAAGACTCTCCAGATGAGTCAAATATAAACTGAGCCATCTAGTTTACCAGAACCTACCAAACCATGTTTGTGTCTGGGACATACTCAGTGCCTACTGTATCTCTCTTTTAGGTAAATCTCTAGAGAAAAATCCACCCCCAGACTGATCCATCAGGAAAGCTTCCCTCATTAAGACAGCAGCTGTGAATTTCCACCTCGCCCAGTCAGCAACCTGCCGAGCTTATCCTGTGTGTTTCAACACTAGGAGAGGGAAAGAACTTAAGGGAAGAAAGGCAAATGAATTTCAACCTCCCTAAAGGGAACTGAATCTCAAAGGCCCTGCCTCCCAAAAAAAACAGAACTTCTCTTTCCTAGTGTCTGCCCAGGACAGTTTGGGTAAACAGTCACTGCTGATTTGTTTATGAAGACCTAAACAGGAAAAAGAACGCACATCTATGGGAGCCCGGTTTGGGTGCTTACCCGCTCCTGATTTATATCTGCCAAGAAGATGCTGTGGTTGCGATACACATCCTCCTTTATGGGGTCATGCCAGTATTCGGCTTGCACGAGGCTGTAGGAAAAAAAAAGAATGAGGTGATCAAGCTACAGGTCAGTCAGTACGCCCAGGGCATGCTCAGTGCAAAGGCCACCAAGAGACTTTAAAAGGACAAAAGGCCAGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACC
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ACATGAGGTTTCTCTTGTTGTTTGGAAACCATAAGGTTTCAGGATGTAGTGGATTTTTGTAACCCAGTGCCTAATAAGCTAGAGCACATAATCAAGAGCCTAACAAGCTTCACCCATATTGGACATGAGTCAGGTGTTTCAGGAGTACCTAGTGCTCTGAGGTGTAAAGGAAAGGGCTCCAGCACCAAAGAACATAGCAGCTTCAGGAACTGGGAGCTGAAAAAACACCAACCTCCCAAGATAGACTCCCTGCCAGTTACCTGTGTGTACAGGGAGGTCTCCTGTAAGGGAATGGTTTCCTTGGCTTGGCCACTTCTGTAAAATCCAAACCACTGCAGAAGAAGCAAAGGAAAGAAGCTCAGATATGACACACAGCACATACTGCCAAAATAATTTGAGACTGGTTAGAAGCTAAAACTGCCAACAAAGTGAACATCATAAAGCTGTAGGAAGAAGGAAAAATGGATAGGGTGCGTCTGAGTCATCTCTTCTTAAGGGTGGAGCCCGAGGGATGAGTTAATCTTTCTGAGAGGCCGCTTTCCACTTCCCCAGAATTTCTGCTTCCTAAAATTATTAAGCAATAAATGTGAAAAATTCCTGTGCTGAGCTCTAGACATTCAAGGATGAATACATAATCTGTTTCCAAAAAGCTCCCAGTCTTGCAAGGCACGGAAACAATTCACTGTTGAGTACAGAGGTCAGCAAACGTTTTTGTAAAGGCCAGATACAAAATATTTTAGGCTTTAAGGGCCATATGGTTGTAACTACTCATTGCTGCCACTGTAACAAATGCAGCCACAGACAGTATGTAAAAAGTAACTAAAACTGTTCCAATAAGGACACTGAAATTTAAATTTTACATAATCTTTATATGTCCAAATACTTGATATGTCTAAATAAATTTTACATAATCTTTATATGTCCAATTCTTTCCCCCAACCATTAAAAAATGTTAAAAACATTCTTTTATGTTAGTGTTTGGTGTTACTCGTGGGTAGCACCAAAACGGGTAGCAGGATGGACTGGGCCTGTGGGCCACAATCGGCCAATCCCTGGTGGTGTGACATAACGTGATGAGTGTTTTAACAGAGGCTGATGATTCTAAAAAAGCGATCACATTCTGCTTGGAATGGGGATGGCATCCTTGCCTTGACAGACGAATAGAAATTGTCAGGTGGAGAAGCCAAGGAAGGGCATTCTAGAGACAGAAATATATGAACCAAGGCATACGAGAGAAAAAGCACAAGTAGTACAATATGGCTTGATCAAGAGTGTATGAAGCGTGCAGACAAGGCAGATTAGGCTGGAAAATGGGGTGAAGCCAGATCAAGGCAGACCTTGGAGGCCAAGCTTAGGAATTTATATATTTTGGGCTAGTGATTCTGAACATTTTTTGGGTCTCTGATCTCTGGAAAATGGATTAAAATTATAGATCCTTCCCCAGAGAATGTAATTACATAATTTTGCATAGAATTTTGGGGTTGGGGGATTGATTACAATCTTCAGTGTCCCATTTATGGACCTCAGGTGAAGAACTGTTTTATACAAAAGTTGGTGGAAGGGACTGAAGGTTTTTTCCCCAGCAGGCAGCTGTATTTTTTCATTTCATTTCAATTTCATTTTATGTTCTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGGGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCTTCCCAAGCAGCTGGGATTACAGATGGCTGTCACCATACCCGGCTAATTTCTTTTTGTATTTTGAGTAGCGATGGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCAGCAGCCCTATTTTAATGCCATTTACTCTCCTGGCATGTGGCCTAAGTAGTGTCTCACCTCCGAATCTACAGGGTCCACAATGGAATCATTGAGGAATTTCACCATCACAAACTTCTTCAGGGCCATCTGGTTTTTCTTGTAGGACTCATTGATACCCTGAAAGAAAGGCCAGCAACACCTAAGGTCATTACCATCAGACACCAGCAGAGGGAGTAAAGCCTTCCTGTTTTCTGGTCTCCCTGACCCTGTGCCACTGTGTTTCTTCCCCATGGGTATGGGCTGTTTTCCAGCTTCCTGACCAGGATATACCTGTACAGCTTTTTTTTTTCTTTTTTTCTAAAAAACAAAATATTTTATTTTAGATTCAGGGGGGTACATGTGTAGTTTTGTTATAAGGGTATATTGTGTGATGCTGAGGTTTGGGGTTCTGTTGATCCTTTCACCCAGATAGTGAACACAGTGCCCAACAGGAAGTTTTTCAGCCCTAGCCTCTCCCTCCCAGCTTTTGGAGTCTCCAGTGTCTATTGTTCCCATCTTTATATTCACGTGTACCCAATGTTTAGCTCCCACTTATAAGTGAGAACATGTGATATTTGGTCTTCTGTTTCTGTGTTCATTTGCTTAGGATAACGGCCTCCAGCTGCATCCATGTTGCTGCAAAGAACAGGATTTCATTCTTTTTTATGACTGTGTAATATTCCATGGTGTATATGTACCACATTTTCTCTATCCAGTCTACCGCTGATGGGCACCTAGGTTGATTTCATGTCTTTGCTATGGTGAACAGTGCTGCAATAAACACGAGTGCAAGTGTCTTTTTGGCAGGACAATTTGTTTTCCTTTGGGTATATACCCAGTCACGGGATTGCTTACACAGCCTTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCGAGGCCAGAGTGCAGTGGCACCATCTCAGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGATCGCCACCACATCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTATAGGCTTTTCTTACCATCCTATCTGACTGACATGCCACTGAGCATGGCATACAGGTACAACTATGAGTTTACACCACACTCCATAGGTGTCCATCACATAGGTGAGAGGCTTCTAGTCAGAGAAAGCCAAGACAAAATAAGAAACTGCAAATTCTGGGTCGTTCTGCTATATACTATTCTGTGTTGTTTTTTGTTTGGTTTGTTTTTCCCTTCAAACTGTTTCAAAACAAAAAACCAAAAGACTCTCCAGATGAGTCAAATATAAACTGAGCCATCTAGTTTACCAGAACCTACCAAACCATGTTTGTGTCTGGGACATACTCAGTGCCTACTGTATCTCTCTTTTAGGTAAATCTCTAGAGAAAAATCCACCCCCAGACTGATCCATCAGGAAAGCTTCCCTCATTAAGACAGCAGCTGTGAATTTCCACCTCGCCCAGTCAGCAACCTGCCGAGCTTATCCTGTGTGTTTCAACACTAGGAGAGGGAAAGAACTTAAGGGAAGAAAGGCAAATGAATTTCAACCTCCCTAAAGGGAACTGAATCTCAAAGGCCCTGCCTCCCAAAAAAAACAGAACTTCTCTTTCCTAGTGTCTGCCCAGGACAGTTTGGGTAAACAGTCACTGCTGATTTGTTTATGAAGACCTAAACAGGAAAAAGAACGCACATCTATGGGAGCCCGGTTTGGGTGCTTACCCGCTCCTGATTTATATCTGCCAAGAAGATGCTGTGGTTGCGATACACATCCTCCTTTATGGGGTCATGCCAGTATTCGGCTTGCACGAGGCTGTAGGAAAAAAAAAGAATGAGGTGATCAAGCTACAGGTCAGTCAGTACGCCCAGGGCATGCTCAGTGCAAAGGCCACCAAGAGACTTTAAAAGGACAAAAGGCCAGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACC
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Task1_train_681
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A sequence alteration has been identified in PPT1 (palmitoyl-protein thioesterase 1) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Neuronal ceroid lipofuscinosis 1
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AGTGGCTGAGACTACAGGTGTGCACCACCACGCCTGCCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCAGGCCTCAAGTGATCTGCCTACCAAGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACTGCGCCCCGCCTTAATCAGTATTTAGGTGTCACTTGTCACCCCCCGACGGACTGCTCACTTAGCATCACTAACAGAATTCTGATCGCCAAGGGTTGTTTTGGTTCACACAAAGAAAGAAAAGTATAGGCGTTTTGGAGGCAACTGGGCAAGAGTGAGAATAAAGAGTAAAGGAAGAAGAATGAAGTTTAAATACCATGCAAATCCATGAGAACAGAGAATATGTAGAATATAAATAATTAAGTTGTAATTAGCCACAGCCAATCAAACCAGGCAAAGGGGAAAGCTTGGTGTAGCCTGAGGGTAAAAAAAAGGAGCTAGAGGTACAGAGTATCTTAGTTTTCTATAATAACCATCAGGTGGTACTGCTGACCCAAAACAGCTTTGTGGCTATTTGTGTAGCCAACGAGTGGGAAAAGAAAAGACAGCTATTAGCTGTAGGTGGTTACAACATGAGTCAGTCACAAGGCTGTATCTTGGAAAATGGCTTCAAGAATATACTGTAATAAAAAGTTGTTATTTGACAAGAATGAGACACTTGGAAAACCCACAGGATATTAGTTGATCCCAAACTCCAGCTATCATCAAGAGCACGTCAGACCTACCATCAAAACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCCTAGGCTAGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTTTTTAAGTGATTCTCCTGCCTCAGCCTCCTGACTAGCTGAGATTACAGGCGTGCGCCACCACGCCCAGTTAATTTTTGCATTTTTAATAGAGACGGGATTTCACCATGTTGGTTAGGCTGGTCTTGAACTCTTGACCTCATGATCCACCTGCCTCCACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCACAACTTCTAAGGATAAAGCCCAGGAATCCATTTTTAATGAATTTCCCTGTGGTTCTGATATACAATTAAGTTTGGAACCAACTGAACAAGCACATACTACAAAAGTAATTCTGCATCTTTTTTTTTTTAAAAATAGATTTTAACAGAGACAGGGGTCTCACTATGTTGTTCAGACTGGTTGTGAACTTCTGGCTTCAAGCAATCCTCCTGCCTTGGCCTCTCAAAGAGCTGGGATTACAAGTGTGAGCCATTATGCCAGGCTGGCCATGCTAAATACCCAAATACATTTGAGTAGTCAGGGACAGTGATATAGGGAGTAGCTAATGACATAAAGAATCTGTCCTCTAAATACCAACAATAATTCCTTGAGCTTAGTACTTTCTAAAGGCTTTCTGTTTGTTTTTTAAGGATGGAAATTTATTCTGTTATAATTACATTCTTCTTACATAGAAAAATGCCCTTGTTTTTCTTTCTTTGTTTTTTAGTTAATAGACTTTTTGGAGCAAGTTTAGGTTTACAATGAAATTGAGCAGATAGTACAAAAAGATCTCATTTGAAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGGTCACCTGAGCTCGGGAAGTTGGAGACCAGCCTAAACAACATGGAGAAACCCAGTCTCTTCTGAAAATACAAAATTAGCCAGGCGTAGTGGCGCATGCCTGTAATCCCAGCTACTCGGAGGCGGAGGCAGGAGACTCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGACAAAATCACGCCACTGCCCTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAGATCTCATTTGAATATCACAAGGAACTACTGCTGGAATCACTGTGAGCATGAAAGTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAAACAAAATGAACAGGACCAAACTCTGATTTCATTCACTTATTCCTCATGAAAATAAAGCGCAGAGAACTAATACTATCACCAGCTTCCTCCTGGTGCTGCTACACTCTTTCCTGCCTAAGGATCTTTTTACCTGCTCATCCCTGGAGGATGTGTTGCATCACATGGCTGGACGCATTTTCAGCTCTCAGGTCTTGGTCCTACACAAGTCACATCTGACCACCTTATCTCAAATAGTACCCACCCCCATTTCCTTCCCCTCCCCCAGTTATACTTCATCCTTAGCATCCTCATCAATAACATTGTTTTGAGTAACACAAATAGTTCTAAGCAAAATATTGGCAATAATTAATTTAATCCTCACAACCACCCTGTGGAGTAGATTTCATTATTTGCCCTATATCACAGATAGAAAACTGTAAAAATGAGGTTAAATACCTTGTCCAAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCAT
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AGTGGCTGAGACTACAGGTGTGCACCACCACGCCTGCCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCAGGCCTCAAGTGATCTGCCTACCAAGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACTGCGCCCCGCCTTAATCAGTATTTAGGTGTCACTTGTCACCCCCCGACGGACTGCTCACTTAGCATCACTAACAGAATTCTGATCGCCAAGGGTTGTTTTGGTTCACACAAAGAAAGAAAAGTATAGGCGTTTTGGAGGCAACTGGGCAAGAGTGAGAATAAAGAGTAAAGGAAGAAGAATGAAGTTTAAATACCATGCAAATCCATGAGAACAGAGAATATGTAGAATATAAATAATTAAGTTGTAATTAGCCACAGCCAATCAAACCAGGCAAAGGGGAAAGCTTGGTGTAGCCTGAGGGTAAAAAAAAGGAGCTAGAGGTACAGAGTATCTTAGTTTTCTATAATAACCATCAGGTGGTACTGCTGACCCAAAACAGCTTTGTGGCTATTTGTGTAGCCAACGAGTGGGAAAAGAAAAGACAGCTATTAGCTGTAGGTGGTTACAACATGAGTCAGTCACAAGGCTGTATCTTGGAAAATGGCTTCAAGAATATACTGTAATAAAAAGTTGTTATTTGACAAGAATGAGACACTTGGAAAACCCACAGGATATTAGTTGATCCCAAACTCCAGCTATCATCAAGAGCACGTCAGACCTACCATCAAAACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCCTAGGCTAGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTTTTTAAGTGATTCTCCTGCCTCAGCCTCCTGACTAGCTGAGATTACAGGCGTGCGCCACCACGCCCAGTTAATTTTTGCATTTTTAATAGAGACGGGATTTCACCATGTTGGTTAGGCTGGTCTTGAACTCTTGACCTCATGATCCACCTGCCTCCACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCACAACTTCTAAGGATAAAGCCCAGGAATCCATTTTTAATGAATTTCCCTGTGGTTCTGATATACAATTAAGTTTGGAACCAACTGAACAAGCACATACTACAAAAGTAATTCTGCATCTTTTTTTTTTTAAAAATAGATTTTAACAGAGACAGGGGTCTCACTATGTTGTTCAGACTGGTTGTGAACTTCTGGCTTCAAGCAATCCTCCTGCCTTGGCCTCTCAAAGAGCTGGGATTACAAGTGTGAGCCATTATGCCAGGCTGGCCATGCTAAATACCCAAATACATTTGAGTAGTCAGGGACAGTGATATAGGGAGTAGCTAATGACATAAAGAATCTGTCCTCTAAATACCAACAATAATTCCTTGAGCTTAGTACTTTCTAAAGGCTTTCTGTTTGTTTTTTAAGGATGGAAATTTATTCTGTTATAATTACATTCTTCTTACATAGAAAAATGCCCTTGTTTTTCTTTCTTTGTTTTTTAGTTAATAGACTTTTTGGAGCAAGTTTAGGTTTACAATGAAATTGAGCAGATAGTACAAAAAGATCTCATTTGAAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGGTCACCTGAGCTCGGGAAGTTGGAGACCAGCCTAAACAACATGGAGAAACCCAGTCTCTTCTGAAAATACAAAATTAGCCAGGCGTAGTGGCGCATGCCTGTAATCCCAGCTACTCGGAGGCGGAGGCAGGAGACTCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGACAAAATCACGCCACTGCCCTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAGATCTCATTTGAATATCACAAGGAACTACTGCTGGAATCACTGTGAGCATGAAAGTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTCAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAAACAAAATGAACAGGACCAAACTCTGATTTCATTCACTTATTCCTCATGAAAATAAAGCGCAGAGAACTAATACTATCACCAGCTTCCTCCTGGTGCTGCTACACTCTTTCCTGCCTAAGGATCTTTTTACCTGCTCATCCCTGGAGGATGTGTTGCATCACATGGCTGGACGCATTTTCAGCTCTCAGGTCTTGGTCCTACACAAGTCACATCTGACCACCTTATCTCAAATAGTACCCACCCCCATTTCCTTCCCCTCCCCCAGTTATACTTCATCCTTAGCATCCTCATCAATAACATTGTTTTGAGTAACACAAATAGTTCTAAGCAAAATATTGGCAATAATTAATTTAATCCTCACAACCACCCTGTGGAGTAGATTTCATTATTTGCCCTATATCACAGATAGAAAACTGTAAAAATGAGGTTAAATACCTTGTCCAAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCAT
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Task1_train_682
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Located on Chromosome 1, this mutation impacts PPT1 (palmitoyl-protein thioesterase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Inborn genetic diseases
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GTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAAACAAAATGAACAGGACCAAACTCTGATTTCATTCACTTATTCCTCATGAAAATAAAGCGCAGAGAACTAATACTATCACCAGCTTCCTCCTGGTGCTGCTACACTCTTTCCTGCCTAAGGATCTTTTTACCTGCTCATCCCTGGAGGATGTGTTGCATCACATGGCTGGACGCATTTTCAGCTCTCAGGTCTTGGTCCTACACAAGTCACATCTGACCACCTTATCTCAAATAGTACCCACCCCCATTTCCTTCCCCTCCCCCAGTTATACTTCATCCTTAGCATCCTCATCAATAACATTGTTTTGAGTAACACAAATAGTTCTAAGCAAAATATTGGCAATAATTAATTTAATCCTCACAACCACCCTGTGGAGTAGATTTCATTATTTGCCCTATATCACAGATAGAAAACTGTAAAAATGAGGTTAAATACCTTGTCCAAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTT
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GTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAAACAAAATGAACAGGACCAAACTCTGATTTCATTCACTTATTCCTCATGAAAATAAAGCGCAGAGAACTAATACTATCACCAGCTTCCTCCTGGTGCTGCTACACTCTTTCCTGCCTAAGGATCTTTTTACCTGCTCATCCCTGGAGGATGTGTTGCATCACATGGCTGGACGCATTTTCAGCTCTCAGGTCTTGGTCCTACACAAGTCACATCTGACCACCTTATCTCAAATAGTACCCACCCCCATTTCCTTCCCCTCCCCCAGTTATACTTCATCCTTAGCATCCTCATCAATAACATTGTTTTGAGTAACACAAATAGTTCTAAGCAAAATATTGGCAATAATTAATTTAATCCTCACAACCACCCTGTGGAGTAGATTTCATTATTTGCCCTATATCACAGATAGAAAACTGTAAAAATGAGGTTAAATACCTTGTCCAAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCACCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTT
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Task1_train_683
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Assess the clinical impact of this variant on gene PPT1 (palmitoyl-protein thioesterase 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Neuronal ceroid lipofuscinosis 1
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GTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAAACAAAATGAACAGGACCAAACTCTGATTTCATTCACTTATTCCTCATGAAAATAAAGCGCAGAGAACTAATACTATCACCAGCTTCCTCCTGGTGCTGCTACACTCTTTCCTGCCTAAGGATCTTTTTACCTGCTCATCCCTGGAGGATGTGTTGCATCACATGGCTGGACGCATTTTCAGCTCTCAGGTCTTGGTCCTACACAAGTCACATCTGACCACCTTATCTCAAATAGTACCCACCCCCATTTCCTTCCCCTCCCCCAGTTATACTTCATCCTTAGCATCCTCATCAATAACATTGTTTTGAGTAACACAAATAGTTCTAAGCAAAATATTGGCAATAATTAATTTAATCCTCACAACCACCCTGTGGAGTAGATTTCATTATTTGCCCTATATCACAGATAGAAAACTGTAAAAATGAGGTTAAATACCTTGTCCAAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTT
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GTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAAACAAAATGAACAGGACCAAACTCTGATTTCATTCACTTATTCCTCATGAAAATAAAGCGCAGAGAACTAATACTATCACCAGCTTCCTCCTGGTGCTGCTACACTCTTTCCTGCCTAAGGATCTTTTTACCTGCTCATCCCTGGAGGATGTGTTGCATCACATGGCTGGACGCATTTTCAGCTCTCAGGTCTTGGTCCTACACAAGTCACATCTGACCACCTTATCTCAAATAGTACCCACCCCCATTTCCTTCCCCTCCCCCAGTTATACTTCATCCTTAGCATCCTCATCAATAACATTGTTTTGAGTAACACAAATAGTTCTAAGCAAAATATTGGCAATAATTAATTTAATCCTCACAACCACCCTGTGGAGTAGATTTCATTATTTGCCCTATATCACAGATAGAAAACTGTAAAAATGAGGTTAAATACCTTGTCCAAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCACCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTT
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Task1_train_684
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With a mutation on Chromosome 1 in gene PPT1 (palmitoyl-protein thioesterase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Neuronal ceroid lipofuscinosis 1
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AAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGG
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AAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTCGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGG
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Task1_train_685
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The following genetic variant occurs in PPT1 (palmitoyl-protein thioesterase 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Neuronal ceroid lipofuscinosis 1
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GTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGT
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GTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCGTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGT
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Task1_train_686
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This variant affects the gene PPT1 (palmitoyl-protein thioesterase 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Neuronal ceroid lipofuscinosis 1
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GTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACAGCGGTCTTCAACCTTTTTGGC
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GTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGCCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACAGCGGTCTTCAACCTTTTTGGC
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Task1_train_687
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Mutation context: Chromosome 1, Gene PPT1 (palmitoyl-protein thioesterase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Inborn genetic diseases
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TATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACAGCGGTCTTCAACCTTTTTGGCACCAGGGACCAGGTTTGTGGAAGACAATTTTTCAAAACTGTTCCACCTCAGATCATCAGGCATTTGCTAGATTCTCATAAGGAGCACCCAATCCAGATCCCTCACATGCGCAGTTCACAACAGCATTTGAGCTCTTTGAGAATCTAATGCCACTGCTGATCTGACAGGAGGTAGAGCTCATGGTGGTAAGGCTGCAGGCTCACTCACCTCCTGCTGTGTGGCTAGTTCCTAACAGGTC
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TATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGGCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACAGCGGTCTTCAACCTTTTTGGCACCAGGGACCAGGTTTGTGGAAGACAATTTTTCAAAACTGTTCCACCTCAGATCATCAGGCATTTGCTAGATTCTCATAAGGAGCACCCAATCCAGATCCCTCACATGCGCAGTTCACAACAGCATTTGAGCTCTTTGAGAATCTAATGCCACTGCTGATCTGACAGGAGGTAGAGCTCATGGTGGTAAGGCTGCAGGCTCACTCACCTCCTGCTGTGTGGCTAGTTCCTAACAGGTC
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Task1_train_688
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Given this variant in gene PPT1 (palmitoyl-protein thioesterase 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Neuronal ceroid lipofuscinosis 1
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TATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACAGCGGTCTTCAACCTTTTTGGCACCAGGGACCAGGTTTGTGGAAGACAATTTTTCAAAACTGTTCCACCTCAGATCATCAGGCATTTGCTAGATTCTCATAAGGAGCACCCAATCCAGATCCCTCACATGCGCAGTTCACAACAGCATTTGAGCTCTTTGAGAATCTAATGCCACTGCTGATCTGACAGGAGGTAGAGCTCATGGTGGTAAGGCTGCAGGCTCACTCACCTCCTGCTGTGTGGCTAGTTCCTAACAGGTC
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TATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGGCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACAGCGGTCTTCAACCTTTTTGGCACCAGGGACCAGGTTTGTGGAAGACAATTTTTCAAAACTGTTCCACCTCAGATCATCAGGCATTTGCTAGATTCTCATAAGGAGCACCCAATCCAGATCCCTCACATGCGCAGTTCACAACAGCATTTGAGCTCTTTGAGAATCTAATGCCACTGCTGATCTGACAGGAGGTAGAGCTCATGGTGGTAAGGCTGCAGGCTCACTCACCTCCTGCTGTGTGGCTAGTTCCTAACAGGTC
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Task1_train_689
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This is a variant in PPT1 (palmitoyl-protein thioesterase 1), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Retinitis pigmentosa
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TATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACAGCGGTCTTCAACCTTTTTGGCACCAGGGACCAGGTTTGTGGAAGACAATTTTTCAAAACTGTTCCACCTCAGATCATCAGGCATTTGCTAGATTCTCATAAGGAGCACCCAATCCAGATCCCTCACATGCGCAGTTCACAACAGCATTTGAGCTCTTTGAGAATCTAATGCCACTGCTGATCTGACAGGAGGTAGAGCTCATGGTGGTAAGGCTGCAGGCTCACTCACCTCCTGCTGTGTGGCTAGTTCCTAACAGGTC
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TATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGGCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACAGCGGTCTTCAACCTTTTTGGCACCAGGGACCAGGTTTGTGGAAGACAATTTTTCAAAACTGTTCCACCTCAGATCATCAGGCATTTGCTAGATTCTCATAAGGAGCACCCAATCCAGATCCCTCACATGCGCAGTTCACAACAGCATTTGAGCTCTTTGAGAATCTAATGCCACTGCTGATCTGACAGGAGGTAGAGCTCATGGTGGTAAGGCTGCAGGCTCACTCACCTCCTGCTGTGTGGCTAGTTCCTAACAGGTC
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Task1_train_690
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The gene PPT1 (palmitoyl-protein thioesterase 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Neuronal ceroid lipofuscinosis 1
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GTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACAGCGGTCTTCAACCTTTTTGGCACCAGGGACCAGGTTTGTGGAAGACAATTTTTCAAAACTGTTCCACCTCAGATCATCAGGCATTTGCTAGATTCTCATAAGGAGCACCCAATCCAGATCCCTCACATGCGCAGTTCACAACAGCATTTGAGCTCTTTGAGAATCTAATGCCACTGCTGATCTGACAGGAGGTAGAGCTCATGGTGGTAAGGCTGCAGGCTCACTCACCTCCTGCTGTGTGGCTAGTTCCTAACAGGTCACAGACCCAGGGAGTTTGGGACCCCCGCTCTAGGGCACAAAATTTAAGGAGGCACTCATTCTCAGGTTTATGTAAGTGTTGACCCTGAA
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GTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAATAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACAGCGGTCTTCAACCTTTTTGGCACCAGGGACCAGGTTTGTGGAAGACAATTTTTCAAAACTGTTCCACCTCAGATCATCAGGCATTTGCTAGATTCTCATAAGGAGCACCCAATCCAGATCCCTCACATGCGCAGTTCACAACAGCATTTGAGCTCTTTGAGAATCTAATGCCACTGCTGATCTGACAGGAGGTAGAGCTCATGGTGGTAAGGCTGCAGGCTCACTCACCTCCTGCTGTGTGGCTAGTTCCTAACAGGTCACAGACCCAGGGAGTTTGGGACCCCCGCTCTAGGGCACAAAATTTAAGGAGGCACTCATTCTCAGGTTTATGTAAGTGTTGACCCTGAA
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Task1_train_691
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A variant on Chromosome 1 in gene PPT1 (palmitoyl-protein thioesterase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Neuronal ceroid lipofuscinosis 1
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TTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTAAGCCCAAAAGCAGACTCTTGATCTTTCCCCCACCCTAAGTCAGCTTGTCCTACAGGCTTCCCCATCTTGGTAAAATGAAAACTTCACCCTTCCAATTGTTCAGGCCAAAACCTGTGGAGTCATCTTTGGCTCCTTTCTTTCTCTCTTATTCCAAGTCTGATCTGTTAGCAATCCACCTTCAAAATCTATCCAAACTTTGACCACTTCTCAACACCTCTACTGTTACTCTACAGTTCCAAGTCATCATCTCTTGTTTAAATTATTGCAATAGTTTCCTAACCTGTCTCCCTGTGACCATCCATGACGCCCTACGATCTATTCTTAATACAGCAACTAAAGTGATTCTTTAAAAATGTGTCAGATCATGTCACTCATCTGCTCAAAAAGTTCCCCATGACACTCTAGCCAAAGTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCAGCCACGCTGATCTGAATGCTGTCCCTTGAACACACCAGACATACTTCCACATCAGGGCTTTCCCATTTACTGTTCCTTCTACCAGACAGCCAAATGGCAACTGTCCTCATCTACCTCAGTTTTGTACTCAGATGTCACTTTTTCAATGAATTCTTTCCCAACTTTGCTTTATTAAAAGTGCAAGCCCCCACCTCCAGTTTTTATCCTACACCCTACTATATTTTTCTCTGTTGCACATATCACCATTTGATATGTTATGTTTTACTTGTTAATTTCTTTATAATCTGCTTCTCCTACTGGAGAGTAGGTTCCAAAAGAACAAAGAATTTAGTCTGTTTAGTTCCCTACTGTATCCTCAGCACCTAGTAGGTGCTCAATAACTGTGTTAAATGAATATAGGTTGAGCATCCTAATCTGAAAATGGGAAACCCAAAATCTGAAAGTTTTTCAGCGCAGACATGATGCCACAAGTGGAAAATTCCACACCTGACCTCATGTGATGGGTTGCACAAAATTATTTAAAATATTGCATAAAATTACCTTCCAGCTATGTGTATAAGGTGTATATGAAAAATAAATAAATTTCCTGTTTACACTTGGGTCCCACCCCCCAGATCTCTTGTATATATGCAAATATTAAAAAAAAAAAAATCCGAAATGCTTCCCAGTCCCAAGCATTTCAGATAAGGGTTACTCAATTTGTAAATGAACTGTAGGTGCCTAACAAATCTCTGTTCAATGTGTGAAGGAATAAATAAAAGGGTAGATGCGCCAGTCATATAGCCAGCCGCAGCTCACCTAGCCTGACCAAGTGAGAGATGCTGCATCCTGACGCCACTACTGTAAGGATTAATCAAGGACAGCATGTAAAACTTCAACGCCGTGCGCGGCTCTCTCTTTCCTTCCCCTTCTCTCTTTCCAGTGAAGGGGACGGCTCCTTCCCCTTCTCTCTTTCCAATGCAGATCCTTCAAATCCTAAAATGTCGAGGCAGCCGCGTGCTGTGGGACCACGTCCTCGCCCTCTACACCCGCATTTTGCAGATGCGAACCCAGGCTAGGAAGAGAGAGAATCGCCAAACCCTTTTAAATTTCTCACTCACTCACCCATCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGCGCCCGAGAAGCGCAGGTCCATGGCAGGAGAGCCACAGCCAAGAGCCACAGGCAGCCGGGCGACGCCATCTTCGCTGTGTCACATGACCGCGGGCGCGAGACTCCGGGAACCGCGCTCCGCCCGCCTGGGCGTGGCGCCGCCGGTTGCAGATCGCAACCTGCGCATCCCGAACGGATGCCCAGCCTGATGGGCGTCGGCCCTACCCTGGAGCTTTCAGCGCGACAGGTCCCCCGCCAGACCCCGCTGGCCGAGTGGGGCTCTGCGCTCTCGTAGACCGCCCTCTGCGGTGAATCAAAATAATTGCTAACATATATTCAGTGCTGATCAGATGCTATCAGGCACTATTCTTACAACCTTTAACTAATTCACTCTTCATAACAATGCTGTATGCACTTCTCCCCCTGACAGGTGAGGACACTGAGGCACTGCGAATTGGCACTGAGTAAGGTGCCCAAGGTCACAGAGATAGCAAATTGGTGGTTCCAAAGTCGTTGCTCTTCACCACTGCCCTGTACTGCCTTTGCAAGAAACATGCACAGAGGAAGGAAGAAAGAAGGAGGGACGGTTTCCAGCCAGGACCAATCATGGCAGGGTGTGGGGTTTGTTCTGGATATTGAAGGAGAGGTAGGATTTCAACAAGCAAAGATGAAATTCAGAAGGACTGAGATGAGCTAAGGTAGAGAGGAGAAAGACAACTGTGTTTTCTAGAAATGTCGGGACTTCAAGACGGACGAAAGCATATGTTGGATGCATAAGAGTGAGGGGGAAACCCATGGCCACTAACTGGCCTAATCTCAGCTGGATTATTTCAAGGGTCTCTCATCAACCATTTCCTTTTCCATTCTCTCCTCTTTAATTCATTTTATGCTCTATTGCCACATTCATCCCTCAATCCACCTTCATAATATCAGTTCCCTGCTCAAGTTTTTTTTCAACAAAACATCAAAAAATAGTTTAAATAATTTATAAAGAAATTAGAGTGTATCCACTATACAATGGAATAATATGAGGCCAGTTTTATAAAAAATGAGTATAGGGCCGGGCGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATCTAAGGTAGCGAGTTCGAGACCAGCCTGACCAACATGGAGAAATCCCGTCTCTACTAAAATTACAAAATTAGCCGGGTGTGGTGGCGCATACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCAGAGGTTGCGGTAAGCTGAGATCATACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAATAAGAATAAAAAATAAATAAAAAGAGAGTACAGCCCAGGCAGCATAGCAAGACCCCATCTCTACAAAAAAAAAATTTTTTTTTAATTAGCCAGGGGTGGTGGTATGTGCCTGTAATCCTAGCTACTGGGGAGGCTAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCATTGAGCTATGATCTCGCCATTGCACTGAGCTATGATCTCGCTGTTGCCCTGGGCAACAGTGAGACCCTGTCTCTCTCAAAAAAGAAAAATGAGGTAAATTTACATAAAGTGACATGAAAAATGCCCTTAATATGTTGTAAAAGAAAAGTCGATTACAAACCCACGGTCTGTAATCTCTTCTATTCCATGCCATTGGGACTAGAGGTAAGTTGTTAGTTGAAAAGTCGATTAAAATGCAGAATCCACTGGGCGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATTGAGCTACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAGAAAAAAAAATGCAGAATCATAAAGCATTATACAGTACAGTATACAGTTTTGTTTTAAGAAAAATAAGCTTATTGTATAAGCATTTTATTTTAACTTAAGACTTACAAA
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TTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTAAGCCCAAAAGCAGACTCTTGATCTTTCCCCCACCCTAAGTCAGCTTGTCCTACAGGCTTCCCCATCTTGGTAAAATGAAAACTTCACCCTTCCAATTGTTCAGGCCAAAACCTGTGGAGTCATCTTTGGCTCCTTTCTTTCTCTCTTATTCCAAGTCTGATCTGTTAGCAATCCACCTTCAAAATCTATCCAAACTTTGACCACTTCTCAACACCTCTACTGTTACTCTACAGTTCCAAGTCATCATCTCTTGTTTAAATTATTGCAATAGTTTCCTAACCTGTCTCCCTGTGACCATCCATGACGCCCTACGATCTATTCTTAATACAGCAACTAAAGTGATTCTTTAAAAATGTGTCAGATCATGTCACTCATCTGCTCAAAAAGTTCCCCATGACACTCTAGCCAAAGTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCAGCCACGCTGATCTGAATGCTGTCCCTTGAACACACCAGACATACTTCCACATCAGGGCTTTCCCATTTACTGTTCCTTCTACCAGACAGCCAAATGGCAACTGTCCTCATCTACCTCAGTTTTGTACTCAGATGTCACTTTTTCAATGAATTCTTTCCCAACTTTGCTTTATTAAAAGTGCAAGCCCCCACCTCCAGTTTTTATCCTACACCCTACTATATTTTTCTCTGTTGCACATATCACCATTTGATATGTTATGTTTTACTTGTTAATTTCTTTATAATCTGCTTCTCCTACTGGAGAGTAGGTTCCAAAAGAACAAAGAATTTAGTCTGTTTAGTTCCCTACTGTATCCTCAGCACCTAGTAGGTGCTCAATAACTGTGTTAAATGAATATAGGTTGAGCATCCTAATCTGAAAATGGGAAACCCAAAATCTGAAAGTTTTTCAGCGCAGACATGATGCCACAAGTGGAAAATTCCACACCTGACCTCATGTGATGGGTTGCACAAAATTATTTAAAATATTGCATAAAATTACCTTCCAGCTATGTGTATAAGGTGTATATGAAAAATAAATAAATTTCCTGTTTACACTTGGGTCCCACCCCCCAGATCTCTTGTATATATGCAAATATTAAAAAAAAAAAAATCCGAAATGCTTCCCAGTCCCAAGCATTTCAGATAAGGGTTACTCAATTTGTAAATGAACTGTAGGTGCCTAACAAATCTCTGTTCAATGTGTGAAGGAATAAATAAAAGGGTAGATGCGCCAGTCATATAGCCAGCCGCAGCTCACCTAGCCTGACCAAGTGAGAGATGCTGCATCCTGACGCCACTACTGTAAGGATTAATCAAGGACAGCATGTAAAACTTCAACGCCGTGCGCGGCTCTCTCTTTCCTTCCCCTTCTCTCTTTCCAGTGAAGGGGACGGCTCCTTCCCCTTCTCTCTTTCCAATGCAGATCCTTCAAATCCTAAAATGTCGAGGCAGCCGCGTGCTGTGGGACCACGTCCTCGCCCTCTACACCCGCATTTTGCAGATGCGAACCCAGGCTAGGAAGAGAGAGAATCGCCAAACCCTTTTAAATTTCTCACTCACTCACCCATCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGCGCCCGAGAAGCGCAGGTCCATGGCAGGAGAGCCACAGCCAAGAGCCACAGGCAGCCGGGCGACGCCTTCTTCGCTGTGTCACATGACCGCGGGCGCGAGACTCCGGGAACCGCGCTCCGCCCGCCTGGGCGTGGCGCCGCCGGTTGCAGATCGCAACCTGCGCATCCCGAACGGATGCCCAGCCTGATGGGCGTCGGCCCTACCCTGGAGCTTTCAGCGCGACAGGTCCCCCGCCAGACCCCGCTGGCCGAGTGGGGCTCTGCGCTCTCGTAGACCGCCCTCTGCGGTGAATCAAAATAATTGCTAACATATATTCAGTGCTGATCAGATGCTATCAGGCACTATTCTTACAACCTTTAACTAATTCACTCTTCATAACAATGCTGTATGCACTTCTCCCCCTGACAGGTGAGGACACTGAGGCACTGCGAATTGGCACTGAGTAAGGTGCCCAAGGTCACAGAGATAGCAAATTGGTGGTTCCAAAGTCGTTGCTCTTCACCACTGCCCTGTACTGCCTTTGCAAGAAACATGCACAGAGGAAGGAAGAAAGAAGGAGGGACGGTTTCCAGCCAGGACCAATCATGGCAGGGTGTGGGGTTTGTTCTGGATATTGAAGGAGAGGTAGGATTTCAACAAGCAAAGATGAAATTCAGAAGGACTGAGATGAGCTAAGGTAGAGAGGAGAAAGACAACTGTGTTTTCTAGAAATGTCGGGACTTCAAGACGGACGAAAGCATATGTTGGATGCATAAGAGTGAGGGGGAAACCCATGGCCACTAACTGGCCTAATCTCAGCTGGATTATTTCAAGGGTCTCTCATCAACCATTTCCTTTTCCATTCTCTCCTCTTTAATTCATTTTATGCTCTATTGCCACATTCATCCCTCAATCCACCTTCATAATATCAGTTCCCTGCTCAAGTTTTTTTTCAACAAAACATCAAAAAATAGTTTAAATAATTTATAAAGAAATTAGAGTGTATCCACTATACAATGGAATAATATGAGGCCAGTTTTATAAAAAATGAGTATAGGGCCGGGCGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATCTAAGGTAGCGAGTTCGAGACCAGCCTGACCAACATGGAGAAATCCCGTCTCTACTAAAATTACAAAATTAGCCGGGTGTGGTGGCGCATACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCAGAGGTTGCGGTAAGCTGAGATCATACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAATAAGAATAAAAAATAAATAAAAAGAGAGTACAGCCCAGGCAGCATAGCAAGACCCCATCTCTACAAAAAAAAAATTTTTTTTTAATTAGCCAGGGGTGGTGGTATGTGCCTGTAATCCTAGCTACTGGGGAGGCTAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCATTGAGCTATGATCTCGCCATTGCACTGAGCTATGATCTCGCTGTTGCCCTGGGCAACAGTGAGACCCTGTCTCTCTCAAAAAAGAAAAATGAGGTAAATTTACATAAAGTGACATGAAAAATGCCCTTAATATGTTGTAAAAGAAAAGTCGATTACAAACCCACGGTCTGTAATCTCTTCTATTCCATGCCATTGGGACTAGAGGTAAGTTGTTAGTTGAAAAGTCGATTAAAATGCAGAATCCACTGGGCGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATTGAGCTACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAGAAAAAAAAATGCAGAATCATAAAGCATTATACAGTACAGTATACAGTTTTGTTTTAAGAAAAATAAGCTTATTGTATAAGCATTTTATTTTAACTTAAGACTTACAAA
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Task1_train_692
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Gene PPT1 (palmitoyl-protein thioesterase 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Neuronal ceroid lipofuscinosis 1
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TCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTAAGCCCAAAAGCAGACTCTTGATCTTTCCCCCACCCTAAGTCAGCTTGTCCTACAGGCTTCCCCATCTTGGTAAAATGAAAACTTCACCCTTCCAATTGTTCAGGCCAAAACCTGTGGAGTCATCTTTGGCTCCTTTCTTTCTCTCTTATTCCAAGTCTGATCTGTTAGCAATCCACCTTCAAAATCTATCCAAACTTTGACCACTTCTCAACACCTCTACTGTTACTCTACAGTTCCAAGTCATCATCTCTTGTTTAAATTATTGCAATAGTTTCCTAACCTGTCTCCCTGTGACCATCCATGACGCCCTACGATCTATTCTTAATACAGCAACTAAAGTGATTCTTTAAAAATGTGTCAGATCATGTCACTCATCTGCTCAAAAAGTTCCCCATGACACTCTAGCCAAAGTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCAGCCACGCTGATCTGAATGCTGTCCCTTGAACACACCAGACATACTTCCACATCAGGGCTTTCCCATTTACTGTTCCTTCTACCAGACAGCCAAATGGCAACTGTCCTCATCTACCTCAGTTTTGTACTCAGATGTCACTTTTTCAATGAATTCTTTCCCAACTTTGCTTTATTAAAAGTGCAAGCCCCCACCTCCAGTTTTTATCCTACACCCTACTATATTTTTCTCTGTTGCACATATCACCATTTGATATGTTATGTTTTACTTGTTAATTTCTTTATAATCTGCTTCTCCTACTGGAGAGTAGGTTCCAAAAGAACAAAGAATTTAGTCTGTTTAGTTCCCTACTGTATCCTCAGCACCTAGTAGGTGCTCAATAACTGTGTTAAATGAATATAGGTTGAGCATCCTAATCTGAAAATGGGAAACCCAAAATCTGAAAGTTTTTCAGCGCAGACATGATGCCACAAGTGGAAAATTCCACACCTGACCTCATGTGATGGGTTGCACAAAATTATTTAAAATATTGCATAAAATTACCTTCCAGCTATGTGTATAAGGTGTATATGAAAAATAAATAAATTTCCTGTTTACACTTGGGTCCCACCCCCCAGATCTCTTGTATATATGCAAATATTAAAAAAAAAAAAATCCGAAATGCTTCCCAGTCCCAAGCATTTCAGATAAGGGTTACTCAATTTGTAAATGAACTGTAGGTGCCTAACAAATCTCTGTTCAATGTGTGAAGGAATAAATAAAAGGGTAGATGCGCCAGTCATATAGCCAGCCGCAGCTCACCTAGCCTGACCAAGTGAGAGATGCTGCATCCTGACGCCACTACTGTAAGGATTAATCAAGGACAGCATGTAAAACTTCAACGCCGTGCGCGGCTCTCTCTTTCCTTCCCCTTCTCTCTTTCCAGTGAAGGGGACGGCTCCTTCCCCTTCTCTCTTTCCAATGCAGATCCTTCAAATCCTAAAATGTCGAGGCAGCCGCGTGCTGTGGGACCACGTCCTCGCCCTCTACACCCGCATTTTGCAGATGCGAACCCAGGCTAGGAAGAGAGAGAATCGCCAAACCCTTTTAAATTTCTCACTCACTCACCCATCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGCGCCCGAGAAGCGCAGGTCCATGGCAGGAGAGCCACAGCCAAGAGCCACAGGCAGCCGGGCGACGCCATCTTCGCTGTGTCACATGACCGCGGGCGCGAGACTCCGGGAACCGCGCTCCGCCCGCCTGGGCGTGGCGCCGCCGGTTGCAGATCGCAACCTGCGCATCCCGAACGGATGCCCAGCCTGATGGGCGTCGGCCCTACCCTGGAGCTTTCAGCGCGACAGGTCCCCCGCCAGACCCCGCTGGCCGAGTGGGGCTCTGCGCTCTCGTAGACCGCCCTCTGCGGTGAATCAAAATAATTGCTAACATATATTCAGTGCTGATCAGATGCTATCAGGCACTATTCTTACAACCTTTAACTAATTCACTCTTCATAACAATGCTGTATGCACTTCTCCCCCTGACAGGTGAGGACACTGAGGCACTGCGAATTGGCACTGAGTAAGGTGCCCAAGGTCACAGAGATAGCAAATTGGTGGTTCCAAAGTCGTTGCTCTTCACCACTGCCCTGTACTGCCTTTGCAAGAAACATGCACAGAGGAAGGAAGAAAGAAGGAGGGACGGTTTCCAGCCAGGACCAATCATGGCAGGGTGTGGGGTTTGTTCTGGATATTGAAGGAGAGGTAGGATTTCAACAAGCAAAGATGAAATTCAGAAGGACTGAGATGAGCTAAGGTAGAGAGGAGAAAGACAACTGTGTTTTCTAGAAATGTCGGGACTTCAAGACGGACGAAAGCATATGTTGGATGCATAAGAGTGAGGGGGAAACCCATGGCCACTAACTGGCCTAATCTCAGCTGGATTATTTCAAGGGTCTCTCATCAACCATTTCCTTTTCCATTCTCTCCTCTTTAATTCATTTTATGCTCTATTGCCACATTCATCCCTCAATCCACCTTCATAATATCAGTTCCCTGCTCAAGTTTTTTTTCAACAAAACATCAAAAAATAGTTTAAATAATTTATAAAGAAATTAGAGTGTATCCACTATACAATGGAATAATATGAGGCCAGTTTTATAAAAAATGAGTATAGGGCCGGGCGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATCTAAGGTAGCGAGTTCGAGACCAGCCTGACCAACATGGAGAAATCCCGTCTCTACTAAAATTACAAAATTAGCCGGGTGTGGTGGCGCATACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCAGAGGTTGCGGTAAGCTGAGATCATACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAATAAGAATAAAAAATAAATAAAAAGAGAGTACAGCCCAGGCAGCATAGCAAGACCCCATCTCTACAAAAAAAAAATTTTTTTTTAATTAGCCAGGGGTGGTGGTATGTGCCTGTAATCCTAGCTACTGGGGAGGCTAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCATTGAGCTATGATCTCGCCATTGCACTGAGCTATGATCTCGCTGTTGCCCTGGGCAACAGTGAGACCCTGTCTCTCTCAAAAAAGAAAAATGAGGTAAATTTACATAAAGTGACATGAAAAATGCCCTTAATATGTTGTAAAAGAAAAGTCGATTACAAACCCACGGTCTGTAATCTCTTCTATTCCATGCCATTGGGACTAGAGGTAAGTTGTTAGTTGAAAAGTCGATTAAAATGCAGAATCCACTGGGCGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATTGAGCTACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAGAAAAAAAAATGCAGAATCATAAAGCATTATACAGTACAGTATACAGTTTTGTTTTAAGAAAAATAAGCTTATTGTATAAGCATTTTATTTTAACTTAAGACTTACAAAT
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TCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTAAGCCCAAAAGCAGACTCTTGATCTTTCCCCCACCCTAAGTCAGCTTGTCCTACAGGCTTCCCCATCTTGGTAAAATGAAAACTTCACCCTTCCAATTGTTCAGGCCAAAACCTGTGGAGTCATCTTTGGCTCCTTTCTTTCTCTCTTATTCCAAGTCTGATCTGTTAGCAATCCACCTTCAAAATCTATCCAAACTTTGACCACTTCTCAACACCTCTACTGTTACTCTACAGTTCCAAGTCATCATCTCTTGTTTAAATTATTGCAATAGTTTCCTAACCTGTCTCCCTGTGACCATCCATGACGCCCTACGATCTATTCTTAATACAGCAACTAAAGTGATTCTTTAAAAATGTGTCAGATCATGTCACTCATCTGCTCAAAAAGTTCCCCATGACACTCTAGCCAAAGTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCAGCCACGCTGATCTGAATGCTGTCCCTTGAACACACCAGACATACTTCCACATCAGGGCTTTCCCATTTACTGTTCCTTCTACCAGACAGCCAAATGGCAACTGTCCTCATCTACCTCAGTTTTGTACTCAGATGTCACTTTTTCAATGAATTCTTTCCCAACTTTGCTTTATTAAAAGTGCAAGCCCCCACCTCCAGTTTTTATCCTACACCCTACTATATTTTTCTCTGTTGCACATATCACCATTTGATATGTTATGTTTTACTTGTTAATTTCTTTATAATCTGCTTCTCCTACTGGAGAGTAGGTTCCAAAAGAACAAAGAATTTAGTCTGTTTAGTTCCCTACTGTATCCTCAGCACCTAGTAGGTGCTCAATAACTGTGTTAAATGAATATAGGTTGAGCATCCTAATCTGAAAATGGGAAACCCAAAATCTGAAAGTTTTTCAGCGCAGACATGATGCCACAAGTGGAAAATTCCACACCTGACCTCATGTGATGGGTTGCACAAAATTATTTAAAATATTGCATAAAATTACCTTCCAGCTATGTGTATAAGGTGTATATGAAAAATAAATAAATTTCCTGTTTACACTTGGGTCCCACCCCCCAGATCTCTTGTATATATGCAAATATTAAAAAAAAAAAAATCCGAAATGCTTCCCAGTCCCAAGCATTTCAGATAAGGGTTACTCAATTTGTAAATGAACTGTAGGTGCCTAACAAATCTCTGTTCAATGTGTGAAGGAATAAATAAAAGGGTAGATGCGCCAGTCATATAGCCAGCCGCAGCTCACCTAGCCTGACCAAGTGAGAGATGCTGCATCCTGACGCCACTACTGTAAGGATTAATCAAGGACAGCATGTAAAACTTCAACGCCGTGCGCGGCTCTCTCTTTCCTTCCCCTTCTCTCTTTCCAGTGAAGGGGACGGCTCCTTCCCCTTCTCTCTTTCCAATGCAGATCCTTCAAATCCTAAAATGTCGAGGCAGCCGCGTGCTGTGGGACCACGTCCTCGCCCTCTACACCCGCATTTTGCAGATGCGAACCCAGGCTAGGAAGAGAGAGAATCGCCAAACCCTTTTAAATTTCTCACTCACTCACCCATCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGCGCCCGAGAAGCGCAGGTCCATGGCAGGAGAGCCACAGCCAAGAGCCACAGGCAGCCGGGCGACGCCAGCTTCGCTGTGTCACATGACCGCGGGCGCGAGACTCCGGGAACCGCGCTCCGCCCGCCTGGGCGTGGCGCCGCCGGTTGCAGATCGCAACCTGCGCATCCCGAACGGATGCCCAGCCTGATGGGCGTCGGCCCTACCCTGGAGCTTTCAGCGCGACAGGTCCCCCGCCAGACCCCGCTGGCCGAGTGGGGCTCTGCGCTCTCGTAGACCGCCCTCTGCGGTGAATCAAAATAATTGCTAACATATATTCAGTGCTGATCAGATGCTATCAGGCACTATTCTTACAACCTTTAACTAATTCACTCTTCATAACAATGCTGTATGCACTTCTCCCCCTGACAGGTGAGGACACTGAGGCACTGCGAATTGGCACTGAGTAAGGTGCCCAAGGTCACAGAGATAGCAAATTGGTGGTTCCAAAGTCGTTGCTCTTCACCACTGCCCTGTACTGCCTTTGCAAGAAACATGCACAGAGGAAGGAAGAAAGAAGGAGGGACGGTTTCCAGCCAGGACCAATCATGGCAGGGTGTGGGGTTTGTTCTGGATATTGAAGGAGAGGTAGGATTTCAACAAGCAAAGATGAAATTCAGAAGGACTGAGATGAGCTAAGGTAGAGAGGAGAAAGACAACTGTGTTTTCTAGAAATGTCGGGACTTCAAGACGGACGAAAGCATATGTTGGATGCATAAGAGTGAGGGGGAAACCCATGGCCACTAACTGGCCTAATCTCAGCTGGATTATTTCAAGGGTCTCTCATCAACCATTTCCTTTTCCATTCTCTCCTCTTTAATTCATTTTATGCTCTATTGCCACATTCATCCCTCAATCCACCTTCATAATATCAGTTCCCTGCTCAAGTTTTTTTTCAACAAAACATCAAAAAATAGTTTAAATAATTTATAAAGAAATTAGAGTGTATCCACTATACAATGGAATAATATGAGGCCAGTTTTATAAAAAATGAGTATAGGGCCGGGCGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATCTAAGGTAGCGAGTTCGAGACCAGCCTGACCAACATGGAGAAATCCCGTCTCTACTAAAATTACAAAATTAGCCGGGTGTGGTGGCGCATACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCAGAGGTTGCGGTAAGCTGAGATCATACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAATAAGAATAAAAAATAAATAAAAAGAGAGTACAGCCCAGGCAGCATAGCAAGACCCCATCTCTACAAAAAAAAAATTTTTTTTTAATTAGCCAGGGGTGGTGGTATGTGCCTGTAATCCTAGCTACTGGGGAGGCTAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCATTGAGCTATGATCTCGCCATTGCACTGAGCTATGATCTCGCTGTTGCCCTGGGCAACAGTGAGACCCTGTCTCTCTCAAAAAAGAAAAATGAGGTAAATTTACATAAAGTGACATGAAAAATGCCCTTAATATGTTGTAAAAGAAAAGTCGATTACAAACCCACGGTCTGTAATCTCTTCTATTCCATGCCATTGGGACTAGAGGTAAGTTGTTAGTTGAAAAGTCGATTAAAATGCAGAATCCACTGGGCGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATTGAGCTACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAGAAAAAAAAATGCAGAATCATAAAGCATTATACAGTACAGTATACAGTTTTGTTTTAAGAAAAATAAGCTTATTGTATAAGCATTTTATTTTAACTTAAGACTTACAAAT
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Task1_train_693
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Gene ZMPSTE24 (zinc metallopeptidase STE24) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; not provided
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TTTTCTTTTTGCAGACTTTGGGGTTCTTCATGAAAGATGCAATCAAGAAATTTGTTGTGACTCAGTGTATTTTGTTGCCTGTGTCTTCACTTCTACTTTACATTATTAAAATTGGGGGTGACTATTTTTTTATTTATGCCTGGCTGTTCACATTAGTTGTGTCTCTGGTGAGTAAAATCTTTATTTCGTTTTCTTTTGCAAAAGTTCCTTGGTGAGATTACTGTAATCTTCATTGGCATGTAAACAGTTCTTAAGAAGCAGCTGAAATATAAATAGGTGCTTATATACATTTCCCCCTTGGTTTCTGCTTTTGATTGTAGACACAGGAGTATTGACTGACCATAAATTTCCTTCTCCTTATGCTAACTCTTCAGGTCATAGAAACTAGTTGTTAGTCACTTTTAATGATTCAGTTGTCAGGCAGTTTTGGGTTGTGCATTTGCGAGTTGCCACCAGAATGACTAAGTGTGATAATTTAATGACTCCTGACTGACCTCCACTGCCTAAAATCATGGTTATTTTGAAGAGAAATGAGATTTAAGAGGGACAAGAGAAAGAAAGCATATACTTAACTGGCTTTCTTCTGCTTCCCTTCCCTTGCCTTTCCCTTCCACGTTAGACACTCTCTCCCTTCTTTGCCCCATCTGCTTCCCCTTCCCCTTCTATCTTTTACCCATTCTTCTTCCTTTCCTTCTCCTGTCTTCCCTTTTCTCCCCAACTGCCACCTATTCCTGCCTCTCTTCTCCTTTCCTTTTCCCTCTCACTCTTTTCCCCCTGATTTTTCCCTCCCTCACATCTCCTATTCCTCTTCTCTTTCCATACTCTCAAGTGCTTCACAACACAAACACTACAACGCAGTCAAAATGGTCTGTTCAGGGCCAGGCACAGTGGCTTATGCCTGTAATCCTGGCACTTTGGGAAGCCAAGGTGGGAGGATTGCTTAAGCCCAAGAGTTTAAGACCAGCCTGGGTAACACAGTGAGACTCTGTCTCTACAAATAATAATTTTTAAAAAACCCAAATGAAAAAACCCAAAGTGGTCTGTTCAGTGCACCCAGAAATTATCATCTATCAGCTCTTCAGCTCCACTGATGAGGTTTATTTTATTTTAGAGATAGGGCCTCCCTGTGTTGCCCAGGCTGGAGTACAGTGGCTATTTCACAGGCATGATCATAGTGCACTACAGCTTTGAGCTCCTGGGCTCAAGCAGTCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGACACCATGCCCAAGCTGAGGTTTATTTTAGTCTGAATTACATAATGCTCATTGTTTCATTTTCCATTGATGGGATCAAGATCAGAAAATGGGCGCTAGTTGGATTTACAGGTATCTATTGTATGGCAAATTAAAGTAAGATGAAAAAGAGCAGAGAAAATGCTCTAAAAATGCTTAAGGAAGTGCTATTTCAACCACATTGTACAATTATGAACTACAGGTAATTAATTTTAGCTGATAAGCCAACCAAGTAACAGCACACAATCAAGTTCTACTAATTCTTTTTTGGGAAAGACTTCAGGTCTATTGTGATTACGCTAAAAGGTAGAACTGCGTGTTATGATTGACTCATGAAGCATCAGAAATCCCCAAGATAGTTTTGAAAGGACTATACTTATTACCACCTAGAGATTTTAATCACTGTTAGTAGCATTATCCTTTAAAATAAAATTCATAAGTTTACTCTGTTATCAGACTACTCATTTCAATTTAATTCATCAGACAGATATTATGCTCTTACTATCTGGTACTATTTGGGCCTGGGAATACCAGAGCAAGTAAGTTCCTTGTTCTCAAGTTTGAGGTCAACATAGTTGTTTTAATATAATTTAATCTGTATAATAAAGAATGTTTTTTCTTTAAGAACATGTTCATATGTTATTCTGACATTTACTTTTCAGGTTCTTGTCACAATCTATGCTGATTATATTGCCCCTTTATTTGACAAATTCACACCTCTGCCTGAGGGAAAGCTTAAAGAAGAAATTGAAGTAATGGCAAAGAGTATTGACTTTCCTTTGACGAAGGTGTATGTTGTGGAAGGTAAGGCTACCTGGGGATAAGAAAGTTTTATCCAAGTGGTTTGTTTTATTTGATACTTTATTCTTAAAATTTTAATAAAAGAATTAATCAGTTTTTGTTTTTTTCTTTTTAAAATTTGTTATTTAAAGGCTAGGAGTTTACCTTTTGGCTTTTTAAGATTTACAGAAATTGATAACATAGGCCAGGGATAGAAACTGGTGGCTTGATACCAAATCCTGCTCTTGTCTGCAGCTATGTTTGTTTGGTTTTACAGTATTGTTTTAAATTTTTGGCCAAGGCTTTTTCACTCTCTGTTATGTTATCTTATATATTAGACTGATTTATTCACTTCTGTTATCTGCCTAGTTCTTTTAGGTAGTTAAGTTGGACTCTTGAATAGTCAAATTCTGTTTAGTATTAGTTTGGAGGCTCTTAAACAAAGCCAGTGTTATTGGCCTTGTCTCCTCCAAGAAAATATCCAGTGTTCTGGAGGACTCACCTGAAGATTGATTACCAAAGACTGCAGTACCACTGAGTACTGCAGATTTGTTATACTCTGCTTTTTTGATGATTACTTTTGAGATTTAAGTGGTCTCTTGACCGTTACTCAAATCTTGACTTCCCATTAACACCCAGTCTATTACTTTCTTTGAGACTTTGGTAGTTGACTATTAAAGTCTCAAAGAAGACTACGGAGATGTAGAGAGAAACTGTTGTAAGGTTCTATGACTTTCAGAATTTATAAAGTCCATATAAATGAATGTAATAGTTCTGTTCCTGCCACTTACCAGTTATAGGATCTTGGACAAGTGACTTCACCCTTCTGGGTTTCAGTTGTATTTCCTCTAAGCTATGGTTTCACAAATGTTTTTTGTAAAGGGCTAGATAGTAAATATTTTAGCTTTGCGGGCCACTTGTTCTCTGTTGCAACTATTCAGTGCTACTATTATAGCGCAAAAGCAGCCATAGACAATACTAAACAAATGAGTGTGGCTGTGTTCCAATAAAACTTTATGAAAATAAATGGCAGATTGGATTTGGCCTGTGAGCTACAGTTTGCTGATCCCTGCTCTAAAATAAAATATTACCAGTGAGAAGCAGCAGTGTTAGATGAAGGAATAGAAGCAGAAACAATCACAGGGTTAGAGGAGAACAGAGATGGTCACAACTGAAAAGAATGAATCAACAGCAACTGGAAGAACATAGAAATTTCAGACATCTGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGCGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTTTACTAAAATACAAAAAATTAGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGGTGGAGGTTGTGGTGAGCCAAGATCAAGCCATTGCACTCTAGCCTGGGCAACAAGAGCCAAATTCTGTCTAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATGTCAGACATTTAGTGGCTCCTGAGGATATACAGCCCAACTAAAGGCACGATTGGAGTAGCTTAAAAGTCTGTGGAGAAATGGTAGAATAAGCCAGTTCATACTTACTTCTTTAGCCTCTGAAATAACTACTCTTTTTTTTTTAGGTAATATTAAACTAGAAATTTAATCATTAATCAGTACAACAGAATAGTCTCTAAGCTGCTTTTACTGAAGGAGCAACCTAAGTTGCTGATCCCTTAAGTTACAATCAGATAACGTGAAATAATAGTTAATGCTATGACAGTGGAGGTAGTCAATAGAATATGTGAAATATATCGGTGCTATTTTCTTTTTATCTTTTTTTTTCCCCCTACAACATCCAGAGTATGAGAGCTATTTTCATTTTAGATAAAATAGTCAGGGAAGGCTTTATGGAAGGTTATGACCTGAGCTGGGTGTTAATGGGAAGTCAAGATTTGAGTAGGTTGGGGGCAGCATTTCAGACGT
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TTTTCTTTTTGCAGACTTTGGGGTTCTTCATGAAAGATGCAATCAAGAAATTTGTTGTGACTCAGTGTATTTTGTTGCCTGTGTCTTCACTTCTACTTTACATTATTAAAATTGGGGGTGACTATTTTTTTATTTATGCCTGGCTGTTCACATTAGTTGTGTCTCTGGTGAGTAAAATCTTTATTTCGTTTTCTTTTGCAAAAGTTCCTTGGTGAGATTACTGTAATCTTCATTGGCATGTAAACAGTTCTTAAGAAGCAGCTGAAATATAAATAGGTGCTTATATACATTTCCCCCTTGGTTTCTGCTTTTGATTGTAGACACAGGAGTATTGACTGACCATAAATTTCCTTCTCCTTATGCTAACTCTTCAGGTCATAGAAACTAGTTGTTAGTCACTTTTAATGATTCAGTTGTCAGGCAGTTTTGGGTTGTGCATTTGCGAGTTGCCACCAGAATGACTAAGTGTGATAATTTAATGACTCCTGACTGACCTCCACTGCCTAAAATCATGGTTATTTTGAAGAGAAATGAGATTTAAGAGGGACAAGAGAAAGAAAGCATATACTTAACTGGCTTTCTTCTGCTTCCCTTCCCTTGCCTTTCCCTTCCACGTTAGACACTCTCTCCCTTCTTTGCCCCATCTGCTTCCCCTTCCCCTTCTATCTTTTACCCATTCTTCTTCCTTTCCTTCTCCTGTCTTCCCTTTTCTCCCCAACTGCCACCTATTCCTGCCTCTCTTCTCCTTTCCTTTTCCCTCTCACTCTTTTCCCCCTGATTTTTCCCTCCCTCACATCTCCTATTCCTCTTCTCTTTCCATACTCTCAAGTGCTTCACAACACAAACACTACAACGCAGTCAAAATGGTCTGTTCAGGGCCAGGCACAGTGGCTTATGCCTGTAATCCTGGCACTTTGGGAAGCCAAGGTGGGAGGATTGCTTAAGCCCAAGAGTTTAAGACCAGCCTGGGTAACACAGTGAGACTCTGTCTCTACAAATAATAATTTTTAAAAAACCCAAATGAAAAAACCCAAAGTGGTCTGTTCAGTGCACCCAGAAATTATCATCTATCAGCTCTTCAGCTCCACTGATGAGGTTTATTTTATTTTAGAGATAGGGCCTCCCTGTGTTGCCCAGGCTGGAGTACAGTGGCTATTTCACAGGCATGATCATAGTGCACTACAGCTTTGAGCTCCTGGGCTCAAGCAGTCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGACACCATGCCCAAGCTGAGGTTTATTTTAGTCTGAATTACATAATGCTCATTGTTTCATTTTCCATTGATGGGATCAAGATCAGAAAATGGGCGCTAGTTGGATTTACAGGTATCTATTGTATGGCAAATTAAAGTAAGATGAAAAAGAGCAGAGAAAATGCTCTAAAAATGCTTAAGGAAGTGCTATTTCAACCACATTGTACAATTATGAACTACAGGTAATTAATTTTAGCTGATAAGCCAACCAAGTAACAGCACACAATCAAGTTCTACTAATTCTTTTTTGGGAAAGACTTCAGGTCTATTGTGATTACGCTAAAAGGTAGAACTGCGTGTTATGATTGACTCATGAAGCATCAGAAATCCCCAAGATAGTTTTGAAAGGACTATACTTATTACCACCTAGAGATTTTAATCACTGTTAGTAGCATTATCCTTTAAAATAAAATTCATAAGTTTACTCTGTTATCAGACTACTCATTTCAATTTAATTCATCAGACAGATATTATGCTCTTACTATCTGGTACTATTTGGGCCTGGGAATACCAGAGCAAGTAAGTTCCTTGTTCTCAAGTTTGAGGTCAACATAGTTGTTTTAATATAATTTAATCTGTATAATAAAGAATGTTTTTTCTTTAAGAACATGTTCATATGTTATTCTGACATTTACTTTTCAGGTTCTTGTCACAATCTATGCTGATTATATTGCCCCTTTATTTGACAAATTCACACCTCTGCCTGAGGGAAAGCTTAAAGAAGAAATTGAAGTAATGGCAAAGAGTATTGACTTTCTTTTGACGAAGGTGTATGTTGTGGAAGGTAAGGCTACCTGGGGATAAGAAAGTTTTATCCAAGTGGTTTGTTTTATTTGATACTTTATTCTTAAAATTTTAATAAAAGAATTAATCAGTTTTTGTTTTTTTCTTTTTAAAATTTGTTATTTAAAGGCTAGGAGTTTACCTTTTGGCTTTTTAAGATTTACAGAAATTGATAACATAGGCCAGGGATAGAAACTGGTGGCTTGATACCAAATCCTGCTCTTGTCTGCAGCTATGTTTGTTTGGTTTTACAGTATTGTTTTAAATTTTTGGCCAAGGCTTTTTCACTCTCTGTTATGTTATCTTATATATTAGACTGATTTATTCACTTCTGTTATCTGCCTAGTTCTTTTAGGTAGTTAAGTTGGACTCTTGAATAGTCAAATTCTGTTTAGTATTAGTTTGGAGGCTCTTAAACAAAGCCAGTGTTATTGGCCTTGTCTCCTCCAAGAAAATATCCAGTGTTCTGGAGGACTCACCTGAAGATTGATTACCAAAGACTGCAGTACCACTGAGTACTGCAGATTTGTTATACTCTGCTTTTTTGATGATTACTTTTGAGATTTAAGTGGTCTCTTGACCGTTACTCAAATCTTGACTTCCCATTAACACCCAGTCTATTACTTTCTTTGAGACTTTGGTAGTTGACTATTAAAGTCTCAAAGAAGACTACGGAGATGTAGAGAGAAACTGTTGTAAGGTTCTATGACTTTCAGAATTTATAAAGTCCATATAAATGAATGTAATAGTTCTGTTCCTGCCACTTACCAGTTATAGGATCTTGGACAAGTGACTTCACCCTTCTGGGTTTCAGTTGTATTTCCTCTAAGCTATGGTTTCACAAATGTTTTTTGTAAAGGGCTAGATAGTAAATATTTTAGCTTTGCGGGCCACTTGTTCTCTGTTGCAACTATTCAGTGCTACTATTATAGCGCAAAAGCAGCCATAGACAATACTAAACAAATGAGTGTGGCTGTGTTCCAATAAAACTTTATGAAAATAAATGGCAGATTGGATTTGGCCTGTGAGCTACAGTTTGCTGATCCCTGCTCTAAAATAAAATATTACCAGTGAGAAGCAGCAGTGTTAGATGAAGGAATAGAAGCAGAAACAATCACAGGGTTAGAGGAGAACAGAGATGGTCACAACTGAAAAGAATGAATCAACAGCAACTGGAAGAACATAGAAATTTCAGACATCTGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGCGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTTTACTAAAATACAAAAAATTAGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGGTGGAGGTTGTGGTGAGCCAAGATCAAGCCATTGCACTCTAGCCTGGGCAACAAGAGCCAAATTCTGTCTAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATGTCAGACATTTAGTGGCTCCTGAGGATATACAGCCCAACTAAAGGCACGATTGGAGTAGCTTAAAAGTCTGTGGAGAAATGGTAGAATAAGCCAGTTCATACTTACTTCTTTAGCCTCTGAAATAACTACTCTTTTTTTTTTAGGTAATATTAAACTAGAAATTTAATCATTAATCAGTACAACAGAATAGTCTCTAAGCTGCTTTTACTGAAGGAGCAACCTAAGTTGCTGATCCCTTAAGTTACAATCAGATAACGTGAAATAATAGTTAATGCTATGACAGTGGAGGTAGTCAATAGAATATGTGAAATATATCGGTGCTATTTTCTTTTTATCTTTTTTTTTCCCCCTACAACATCCAGAGTATGAGAGCTATTTTCATTTTAGATAAAATAGTCAGGGAAGGCTTTATGGAAGGTTATGACCTGAGCTGGGTGTTAATGGGAAGTCAAGATTTGAGTAGGTTGGGGGCAGCATTTCAGACGT
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Task1_train_694
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Consider this mutation in ZMPSTE24 (zinc metallopeptidase STE24) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; not provided
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TTTCTGTTAATATTTGTTAGGTTGGTGCAAAAGTAATTGCAGTTTCAGACCATGAATTTTGAATCCTTATAACTAGGCTCAAACACATCTTTATTAATCAAAAGAAGAACCATTACAATCAACACATTTTTGCCAACAAGAAATACGTTTGCTTATTTCTGTAGGGTAAAACTCTGTGCTTCGGGATTTGGCAAACTCTTGGAAAGCATTTTCTGCATCCAGCTAGTTGTGAAAACGTTTTCTCTTTAAAAAGTTGTTGAGATGCTTGAATAAGTGGTAGTCAGTTGGCAAGAGGTCAGGTGAATGTGGCAGATCAGGCAAAACTTCATAGCCCAATTTGTTCAACTTTTGAAGGATTGATTTTGCGATGTTCGGTTGGGTGTTGTCTTGGAGAAGAATTGGGCCCTTTCTGTTGCCCAGTGCTGGTTGCAGGCGTTGCAATTTTCTGTGCATCTCATCGATTTGCTGTGCATACTTCTCAGATGTAATGGTTTTGCCAGGATTCAGAAAGCTATAGTGGATCAGACTGGCAGCAGACCACCAAACAGTGACCATGACCTTTTTTTGGTGCAAGTTTGGCTTTGGGAAGTGCTTTGGAGCTTCTTCTGTGTCCACCCACTGAGCTGGTCATCGCCCGTTGTTCTATAAAATCCATGTTTCGTCTCACGTCACAGTCTGATAGAGAAATGGTTTGTTGTGTAAAATAAGAGAAGACGACACTTCAAAACAATGATTTTTTTTAATTTTTATTTTCGCTTAGCTCATGAAGCACCCACTTATCAGGCTTTTTCACCTTTCCAGTTTGCTTCAAATGCCAAACGACCGTAGAATGGTCGACATTGAGTTCTTCGGCAACTTCTTGTGTAGTTGTAAGGGGATCAGCTCCGATGATTGCTCTCCATTGGTCATTGTCAACTTCCGATGGCCTGCCACTACGCTCCTCATCTTCAAGGCTCTCATCTCCTTTGCAAACTTCTTGAACCACCACTGCGCTGTACGTTCGTTAGCAGTTCCTGGGCCAAATGCGTTGTTGATGTTGCGAGTTGTCTCTGCTGCTTTACGACCCATTTTGAACTCAAAGAAGAAAATTGCTTGAATTTGCTTTTTTTTTTTTCTTTCTTTGTGAGACAGAGTCTCCGTCTGTTGCCTAGGCTGGAGTGCAGTGGCGACATCTCTGCTCACTGCAACCTCCGTCTCCTGGGTTCAAGCAGTTCTCATGCCTCAGCCCCACGTGTAGCTGGGATGACAGGTGTGCGCCACCATGCCCGGCTAATTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCACGAACTCCTGACTTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGTTGAATTTGCTTTTTGTCTAATATAATTTCCCTTATCTAAAATAAATATAAAATAAACAGCAAGTAATGTCATTAGCAAAAAACATAAAGTGAGAAATGTGCATTAAAATGATGTATAACATAACCATATTTATTTAAGAATGTATTCCAATATCAAACAGCAAATTTCAACAATGCAAAAACCGCAATTACTTTTGCACCAACCTAATACATGCACATTTTTTCTTGACGATAATGGAACCTGATATACGTGAAGTTTTGTATCCTTCACAATATATTGGTGAGCTTTTTCTTGTTAAAATTCTTTGGAAGTATAATTTTTTTCTGGCAGCTTAAAATTCCATTTCATAGTTTTACTATAATTGAATCATTTGTAACTGTTGGATGTTTAGGCTTTACTTATTTACTTACTGCTATAAAGCTGTGATGAGCACATTTATTGGCAAAAAACAGACACTCTCCACTGCTGGTGGTGAATTATGTTGATATGATTTTTCTTCACATATTAAATGATTTGAAAATGTTAATGTCCTTTCCAGTAATTCAATTTCTAGGAGTCTCTCCAAAGGACCCCAAACTTTTTAATTATATTCCATGCTTTGAACTGTCTTTTCCTTAGGATCTAAACGCTCTTCCCACAGCAATGCTTATTTTTATGGCTTCTTCAAGAACAAGCGAATAGTTTTGTTTGACACTCTACTAGAAGAGTACTCTGTACTAAACAAAGACATCCAGGAGGATTCTGGCATGGAACCCCGCAATGAGGAAGAAGGGAACAGTGAAGAAATAAAAGCTAAAGTTAAAGTGAGTTATTTTTTCCTAAGAGATTCTACCTTAGTTTTTATACACAGTTCCTGTGACAACTCAAAATAACATCAATTTCTAGGCAGTGAGTGTTGAATTCAGGGAGACTATCAGATGAAAACCATGGCTCCTTTATAGTTCTGGTATTTAGGAGAGATCACCACTATTATTACATGCTAACTACCTTGCAAGCTTTTATAGAATGTGGATATTAAAATTGGAAGCTCTTATAAGAAAATTCATATGATTATAAGCTATCTTTAAAACAGGAACTTGTGTGTATATATATATATGTGTGTGTATATATATATATAATTTCTTATGTGTTTATGATCAAAGAATTCCCACAAGCAAGATAAAGAGAAGATAAACATCTAATTTTTAGCTTTATTAAGACAGTAATTGTAGGCTTTGGCAATGGAGAGACTTGGATTTGAATCCTGGTTCTGTCATTTAGTAGCTTTGTATCCTTGGATACGTTGTGTAATTTAGTCTGTTTTATTTGTTTAACACCCATTTATGAAATGTATACTCTGTGCTGAGAGACTTTACTTGGCACTAGGTACACAAAAATAAAAAGGAATACCTTCCTCTTAAGCTTACAGTCTAAAGGGGAAATAGTCATGCAATCACAGTACAATACGTGAATTGCTACTGTCAAGCTTTAGATTCTAGATATAGTAACTGGAGCACAAGAAAAGACATTTCTCAAATCTGACATGAGAGTCTGAGAAAGCTGCTTCTGAATCCTTTTCGTGGATAAGATTGACTGATATTGATTAGCAGAATTTAAAGTATCAAGACTAAATGGGGGAGAGGGGACAATGATAAGAAACAATACAAACTGTCAGAAATGATCATCAGTATTTGTATGTGTGATGGAATGTGCCATTGCCTTTGGTGTCATACAGAGATGATTTTAGATGCCTGTTCACTCACTGTCTGTGTAACTCTGTGCAAGTAAGTTAAGCTTTCATTTATTTATGTATTTATTTATTTTGAGATGAGGTCTTGTTATGTTTTCCAGGCTGGTCGAACTGCTGGCCTCAAGTTACCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGTGCCACCGCACCCCGCCAAGCTTTCTAAATCTTTGATTTCTTAACTGAAAGATGAGGCCAGTAGGGTTTCTCAAGCCCCACGCTATTTTTTTGAGCCAGATAATTTTTTTGTTGTGGGAGGTATCTTGTGCATCACAGGATGTTTAGCAGCATCCCTGGTCTCTCCCCACTAGGGGCCATTTCCCCTACAACCTCTACAAATTGTAACAACAAAAATGTCTCAGAATATTGCCAGATGTCCCCTAAAGGTAGCGGTGGGGCCGAGTCTCCCCTGGTTGAGAAATACTAGGCTAAAGATACCTACATTTTAGGGTTTTGAAGATTAAATGAAATAATATGTGTGAAATACCTTGTACTCTCTACCCAAATGTAGAGAGTACCAGAAAATGATTAGCATCTGAGCATCTGTTTTGACACTAAAAACAGGTTCTAGTAAAGTACCTAGCCTGTTATAAATACGTAGATGAAATAAAATTCTGTGAAGGGATTAGAAGACATCTTAAAGTCATCTTATAAATAGGAAAACTGAAGTCCAGAAAGAATAACCCAGTGATAACACTAGAGAATCATGCAAGTTTAGAAAGTTAATCTGCTTATGGTCAGGCACTGTGGCCCATACCTGTAATCCCAGCACTTTGGAAGGCCAAGACAGGCAGATAACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAACCCCTGTCTCTACAAAAAAATACAAAAATTAGTTGGGCATGATAGCGCACGCCTGTAATCCCAGTACTCAGGAGGCTGAGGCACAA
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TTTCTGTTAATATTTGTTAGGTTGGTGCAAAAGTAATTGCAGTTTCAGACCATGAATTTTGAATCCTTATAACTAGGCTCAAACACATCTTTATTAATCAAAAGAAGAACCATTACAATCAACACATTTTTGCCAACAAGAAATACGTTTGCTTATTTCTGTAGGGTAAAACTCTGTGCTTCGGGATTTGGCAAACTCTTGGAAAGCATTTTCTGCATCCAGCTAGTTGTGAAAACGTTTTCTCTTTAAAAAGTTGTTGAGATGCTTGAATAAGTGGTAGTCAGTTGGCAAGAGGTCAGGTGAATGTGGCAGATCAGGCAAAACTTCATAGCCCAATTTGTTCAACTTTTGAAGGATTGATTTTGCGATGTTCGGTTGGGTGTTGTCTTGGAGAAGAATTGGGCCCTTTCTGTTGCCCAGTGCTGGTTGCAGGCGTTGCAATTTTCTGTGCATCTCATCGATTTGCTGTGCATACTTCTCAGATGTAATGGTTTTGCCAGGATTCAGAAAGCTATAGTGGATCAGACTGGCAGCAGACCACCAAACAGTGACCATGACCTTTTTTTGGTGCAAGTTTGGCTTTGGGAAGTGCTTTGGAGCTTCTTCTGTGTCCACCCACTGAGCTGGTCATCGCCCGTTGTTCTATAAAATCCATGTTTCGTCTCACGTCACAGTCTGATAGAGAAATGGTTTGTTGTGTAAAATAAGAGAAGACGACACTTCAAAACAATGATTTTTTTTAATTTTTATTTTCGCTTAGCTCATGAAGCACCCACTTATCAGGCTTTTTCACCTTTCCAGTTTGCTTCAAATGCCAAACGACCGTAGAATGGTCGACATTGAGTTCTTCGGCAACTTCTTGTGTAGTTGTAAGGGGATCAGCTCCGATGATTGCTCTCCATTGGTCATTGTCAACTTCCGATGGCCTGCCACTACGCTCCTCATCTTCAAGGCTCTCATCTCCTTTGCAAACTTCTTGAACCACCACTGCGCTGTACGTTCGTTAGCAGTTCCTGGGCCAAATGCGTTGTTGATGTTGCGAGTTGTCTCTGCTGCTTTACGACCCATTTTGAACTCAAAGAAGAAAATTGCTTGAATTTGCTTTTTTTTTTTTCTTTCTTTGTGAGACAGAGTCTCCGTCTGTTGCCTAGGCTGGAGTGCAGTGGCGACATCTCTGCTCACTGCAACCTCCGTCTCCTGGGTTCAAGCAGTTCTCATGCCTCAGCCCCACGTGTAGCTGGGATGACAGGTGTGCGCCACCATGCCCGGCTAATTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCACGAACTCCTGACTTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGTTGAATTTGCTTTTTGTCTAATATAATTTCCCTTATCTAAAATAAATATAAAATAAACAGCAAGTAATGTCATTAGCAAAAAACATAAAGTGAGAAATGTGCATTAAAATGATGTATAACATAACCATATTTATTTAAGAATGTATTCCAATATCAAACAGCAAATTTCAACAATGCAAAAACCGCAATTACTTTTGCACCAACCTAATACATGCACATTTTTTCTTGACGATAATGGAACCTGATATACGTGAAGTTTTGTATCCTTCACAATATATTGGTGAGCTTTTTCTTGTTAAAATTCTTTGGAAGTATAATTTTTTTCTGGCAGCTTAAAATTCCATTTCATAGTTTTACTATAATTGAATCATTTGTAACTGTTGGATGTTTAGGCTTTACTTATTTACTTACTGCTATAAAGCTGTGATGAGCACATTTATTGGCAAAAAACAGACACTCTCCACTGCTGGTGGTGAATTATGTTGATATGATTTTTCTTCACATATTAAATGATTTGAAAATGTTAATGTCCTTTCCAGTAATTCAATTTCTAGGAGTCTCTCCAAAGGACCCCAAACTTTTTAATTATATTCCATGCTTTGAACTGTCTTTTCCTTAGGATCTAAACGCTCTTCCCACAGCAGTGCTTATTTTTATGGCTTCTTCAAGAACAAGCGAATAGTTTTGTTTGACACTCTACTAGAAGAGTACTCTGTACTAAACAAAGACATCCAGGAGGATTCTGGCATGGAACCCCGCAATGAGGAAGAAGGGAACAGTGAAGAAATAAAAGCTAAAGTTAAAGTGAGTTATTTTTTCCTAAGAGATTCTACCTTAGTTTTTATACACAGTTCCTGTGACAACTCAAAATAACATCAATTTCTAGGCAGTGAGTGTTGAATTCAGGGAGACTATCAGATGAAAACCATGGCTCCTTTATAGTTCTGGTATTTAGGAGAGATCACCACTATTATTACATGCTAACTACCTTGCAAGCTTTTATAGAATGTGGATATTAAAATTGGAAGCTCTTATAAGAAAATTCATATGATTATAAGCTATCTTTAAAACAGGAACTTGTGTGTATATATATATATGTGTGTGTATATATATATATAATTTCTTATGTGTTTATGATCAAAGAATTCCCACAAGCAAGATAAAGAGAAGATAAACATCTAATTTTTAGCTTTATTAAGACAGTAATTGTAGGCTTTGGCAATGGAGAGACTTGGATTTGAATCCTGGTTCTGTCATTTAGTAGCTTTGTATCCTTGGATACGTTGTGTAATTTAGTCTGTTTTATTTGTTTAACACCCATTTATGAAATGTATACTCTGTGCTGAGAGACTTTACTTGGCACTAGGTACACAAAAATAAAAAGGAATACCTTCCTCTTAAGCTTACAGTCTAAAGGGGAAATAGTCATGCAATCACAGTACAATACGTGAATTGCTACTGTCAAGCTTTAGATTCTAGATATAGTAACTGGAGCACAAGAAAAGACATTTCTCAAATCTGACATGAGAGTCTGAGAAAGCTGCTTCTGAATCCTTTTCGTGGATAAGATTGACTGATATTGATTAGCAGAATTTAAAGTATCAAGACTAAATGGGGGAGAGGGGACAATGATAAGAAACAATACAAACTGTCAGAAATGATCATCAGTATTTGTATGTGTGATGGAATGTGCCATTGCCTTTGGTGTCATACAGAGATGATTTTAGATGCCTGTTCACTCACTGTCTGTGTAACTCTGTGCAAGTAAGTTAAGCTTTCATTTATTTATGTATTTATTTATTTTGAGATGAGGTCTTGTTATGTTTTCCAGGCTGGTCGAACTGCTGGCCTCAAGTTACCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGTGCCACCGCACCCCGCCAAGCTTTCTAAATCTTTGATTTCTTAACTGAAAGATGAGGCCAGTAGGGTTTCTCAAGCCCCACGCTATTTTTTTGAGCCAGATAATTTTTTTGTTGTGGGAGGTATCTTGTGCATCACAGGATGTTTAGCAGCATCCCTGGTCTCTCCCCACTAGGGGCCATTTCCCCTACAACCTCTACAAATTGTAACAACAAAAATGTCTCAGAATATTGCCAGATGTCCCCTAAAGGTAGCGGTGGGGCCGAGTCTCCCCTGGTTGAGAAATACTAGGCTAAAGATACCTACATTTTAGGGTTTTGAAGATTAAATGAAATAATATGTGTGAAATACCTTGTACTCTCTACCCAAATGTAGAGAGTACCAGAAAATGATTAGCATCTGAGCATCTGTTTTGACACTAAAAACAGGTTCTAGTAAAGTACCTAGCCTGTTATAAATACGTAGATGAAATAAAATTCTGTGAAGGGATTAGAAGACATCTTAAAGTCATCTTATAAATAGGAAAACTGAAGTCCAGAAAGAATAACCCAGTGATAACACTAGAGAATCATGCAAGTTTAGAAAGTTAATCTGCTTATGGTCAGGCACTGTGGCCCATACCTGTAATCCCAGCACTTTGGAAGGCCAAGACAGGCAGATAACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAACCCCTGTCTCTACAAAAAAATACAAAAATTAGTTGGGCATGATAGCGCACGCCTGTAATCCCAGTACTCAGGAGGCTGAGGCACAA
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Task1_train_695
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A change on Chromosome 1 affects gene ZMPSTE24 (zinc metallopeptidase STE24). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Mandibuloacral dysplasia with type B lipodystrophy
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TTTTTTTTTTTTTTTTTGAGATGTAGTCTTGCCCTCTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCAGCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTGGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGCATTACAGGCTTGAGTCACCATGCCTGGCCTTCAGCTTGGATTTCTAATAATTTTTTTATCTGAATTTTCCAATTTACAGCATTTCGTTACTTTTTCTTAGGTGCAATGTCTTAATTTTCTAAACTTTCTCTTTATATAATTTATTTCATGTTGCTTTTTTTGTGGATCAGATCTTCTGTGTTAACAGCTTACCTCATATATCTGGTAAATCCTTGGTTATTTGCTCCTTAGTAAGAGAATGGGACTAGGCCCCACACAGCGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGCAGTCAGGAGTTCGAGACCAGCCTGACTCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCACAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCGAGATCGTGCCGTTGCACTCCAGCTTGGGCAACAAGAGTGAAACTCCATCTAAAATAAATAATAATAACTACTGTTAACATTTGTATATACTTTCAGTCTACTTTTTATATTTGTATATTTTTATATACACATTCACATTGTTTCATAATTAGAATCATACTATATATTTTTAGTTTGTGTCTTACTTTCTTCACCTAATCATTTTCCAATGTCAAAACATCATCCCTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTTTTTCACCTAGGTTGGAGTACAGTGGCGTGATCTTGGCTCACTACAGACTACGCCTCCCAGTTTCAAGCAGTTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTATTATTATTATTATTATTATTATTATTTTGAGATGGAGTCTTGCTCTGTCTCCTAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGGTGATCTCAGCTCACTGCAGCCTCTGATTCTCCTGCCTCAGCCTCCAGAGCAGCTGCAATTACAGGCGCATACCACGATACCCTGCTAATTTTTTGTATTTTGGTAGAGACAGGGTTTCACCATGTTGGTCAGTCTGGTCTCGGTCTCCTGACCTCGTGATCCACCCACCTTGACCTCTCAAAGTGCTGGGATTGCAGGCATGAGCCACCATGCCCAGCAATATTTTGTATTTTTAGTAGAGATGGGATTTTGCTATGTTGGCCAGGCTAGTCTGGAACTCCTGGCTTCAAGTTATCTGTCTGCCTCGGTTTCCCAAAGTGTTGAGATTACAGGCGTGAGCCACTGCAATTGGCCCTAATCTTTGAAAACAAAATTTCTAATGATTTTGTAATATAATGTGACTGTCATATAACTTTATCATGATTTATTTAACTATTGTCCCATTATAAAGATTTCTATTTCTTCCAGTTTTTTTTTTCCTAATCTAAGTTAGTCTAGACTGTGAGCTTTATGTAGTCTGGGAATGTCCATCTTGTTCGTCATTCTATCTATCTTCAGTGCTTAACCCACTGTCTCATGTGGAGCAGTGGTTCAGGGAATGTTTTGTTAAGACAATCAACAGTTTTGAACAAAACTGATTATTTCTTTAAGTTAAAATCTATGAAGGGCTATTACTGGGTTAAAAGATAAAACTTTTTAAAGGTTCTCAATAATTTATTTTTGATTTTTTTTTATTCAGAATAAGAAACAAGGATGTAAAAATGAGGAGGTACTCGCTGTACTAGGCCATGAACTGGGGCACTGGAAGTTGGGACATACAGTCAAAAATATCATTATTAGCCAGGTAAGTGTGGAGTGACAATTCTTTTTTTATGGCATGATAGTCAAATTAGAACTATGGCAGGCATGAGAGGTCATATAAGAGAGGCCAAGGCAGACACCACAGCCAGGCTACCTGGTTTCCTATCACAGCTCCCTGACTTACTACCTGTGTGACCTCAGGCAAGTTCCTTAACCTCTGCCTCTGTCCCCTCATTGAATGATAATACCTCATAGGACTGGTTAAGAATTAAGTGAGTTAATACATGTAAAGAGTTTAGACTAGCACCTGGAACATGGTGAGTACTATATAAATTATTGTTATCACCACCATCATCACCTCCAGAGTAAGAACTTGGAAAATCAAAAGGAACAAGCCTAGATAAGTTGGACATTAAAATGCTTTTTAAAATTAAATTAAAAAAATTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGACTGGAGTGCAGTGATGTGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCTGAGTAGCTTGGACTACAGGCACCCACCACCATCCCTGGCTAATTTTTGTATTTTTAGTAGACACAGGGTATCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATGCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACTGTGCCCACCCTAAAATGCTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAAGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACGCCACCACACTTGACTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCAATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGTTGATCCGCCTGCCTCAGCCTCCCAAATTGCTGGGATTACAGGCATGAGCCACCACTCCCGGCCTCTAGAATGCTTTTTAAAAAACATTTTTTTCTTTTTCTTTTCTTTTTTTTTTTGAAATGGGGTCTCTCTCTGTCGTCCAGGCTAGAATGCAGTGGCGTGATCTCAACTCACTGCAACCTGCACCTCCCAGGCTCAAGCCATCCTCCAGCCTCTACCTCCCTAGTAGCTGAGACCACAGGTGCATGCCACCGCGCCCGGCTAATTTTTTTGTATTTTTGGTAGAGACCGGTTTTCACTATGTTGTCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCGATCCACTCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCCGGTCTAAAACATTTTTTTCATTTAAAAGTTATTGCCGGCGTGGTGGCTCATGCTTGTAATCCCGGCACTTTGGGAAGTTGAGATGGTGGATCACTTGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAGCCCTATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCCCCAGTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTTGCCATATATTCATTGGAAATTGTAGAAAATACAAAAAGAAAGCAATCCCAATAATGTTCCTCTTCTCGGTTCTAGAACCTCTAAACCAACAGATGTTTAGGCTTTGGGTGAAAAAGCACTATATCATGTTGACTAGTTCTGAGCATATGTGGCCTTAACTGAATCTTCAGTGGATTTTCAGACCTTTAAAAAGGCTGGCTGAGCAAGGCATGGTGGCTCATGCCTGTAATCCCAATACTTTGGAAGGTTGACGAGGGAAGATCATCTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCGAGACCCCCTTCTCTCCAAAAGGTTAAAAAATTAGCTG
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TTTTTTTTTTTTTTTTTGAGATGTAGTCTTGCCCTCTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCAGCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTGGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGCATTACAGGCTTGAGTCACCATGCCTGGCCTTCAGCTTGGATTTCTAATAATTTTTTTATCTGAATTTTCCAATTTACAGCATTTCGTTACTTTTTCTTAGGTGCAATGTCTTAATTTTCTAAACTTTCTCTTTATATAATTTATTTCATGTTGCTTTTTTTGTGGATCAGATCTTCTGTGTTAACAGCTTACCTCATATATCTGGTAAATCCTTGGTTATTTGCTCCTTAGTAAGAGAATGGGACTAGGCCCCACACAGCGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGCAGTCAGGAGTTCGAGACCAGCCTGACTCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCACAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCGAGATCGTGCCGTTGCACTCCAGCTTGGGCAACAAGAGTGAAACTCCATCTAAAATAAATAATAATAACTACTGTTAACATTTGTATATACTTTCAGTCTACTTTTTATATTTGTATATTTTTATATACACATTCACATTGTTTCATAATTAGAATCATACTATATATTTTTAGTTTGTGTCTTACTTTCTTCACCTAATCATTTTCCAATGTCAAAACATCATCCCTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTTTTTCACCTAGGTTGGAGTACAGTGGCGTGATCTTGGCTCACTACAGACTACGCCTCCCAGTTTCAAGCAGTTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTATTATTATTATTATTATTATTATTATTTTGAGATGGAGTCTTGCTCTGTCTCCTAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGGTGATCTCAGCTCACTGCAGCCTCTGATTCTCCTGCCTCAGCCTCCAGAGCAGCTGCAATTACAGGCGCATACCACGATACCCTGCTAATTTTTTGTATTTTGGTAGAGACAGGGTTTCACCATGTTGGTCAGTCTGGTCTCGGTCTCCTGACCTCGTGATCCACCCACCTTGACCTCTCAAAGTGCTGGGATTGCAGGCATGAGCCACCATGCCCAGCAATATTTTGTATTTTTAGTAGAGATGGGATTTTGCTATGTTGGCCAGGCTAGTCTGGAACTCCTGGCTTCAAGTTATCTGTCTGCCTCGGTTTCCCAAAGTGTTGAGATTACAGGCGTGAGCCACTGCAATTGGCCCTAATCTTTGAAAACAAAATTTCTAATGATTTTGTAATATAATGTGACTGTCATATAACTTTATCATGATTTATTTAACTATTGTCCCATTATAAAGATTTCTATTTCTTCCAGTTTTTTTTTTCCTAATCTAAGTTAGTCTAGACTGTGAGCTTTATGTAGTCTGGGAATGTCCATCTTGTTCGTCATTCTATCTATCTTCAGTGCTTAACCCACTGTCTCATGTGGAGCAGTGGTTCAGGGAATGTTTTGTTAAGACAATCAACAGTTTTGAACAAAACTGATTATTTCTTTAAGTTAAAATCTATGAAGGGCTATTACTGGGTTAAAAGATAAAACTTTTTAAAGGTTCTCAATAATTTATTTTTGATTTTTTTTTATTCAGAATAAGAAACAAGGATGTAAAAATGAGGAGGTACTCGCTGTACTAGGCCATGAACTGGGGCACCGGAAGTTGGGACATACAGTCAAAAATATCATTATTAGCCAGGTAAGTGTGGAGTGACAATTCTTTTTTTATGGCATGATAGTCAAATTAGAACTATGGCAGGCATGAGAGGTCATATAAGAGAGGCCAAGGCAGACACCACAGCCAGGCTACCTGGTTTCCTATCACAGCTCCCTGACTTACTACCTGTGTGACCTCAGGCAAGTTCCTTAACCTCTGCCTCTGTCCCCTCATTGAATGATAATACCTCATAGGACTGGTTAAGAATTAAGTGAGTTAATACATGTAAAGAGTTTAGACTAGCACCTGGAACATGGTGAGTACTATATAAATTATTGTTATCACCACCATCATCACCTCCAGAGTAAGAACTTGGAAAATCAAAAGGAACAAGCCTAGATAAGTTGGACATTAAAATGCTTTTTAAAATTAAATTAAAAAAATTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGACTGGAGTGCAGTGATGTGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCTGAGTAGCTTGGACTACAGGCACCCACCACCATCCCTGGCTAATTTTTGTATTTTTAGTAGACACAGGGTATCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATGCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACTGTGCCCACCCTAAAATGCTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAAGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACGCCACCACACTTGACTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCAATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGTTGATCCGCCTGCCTCAGCCTCCCAAATTGCTGGGATTACAGGCATGAGCCACCACTCCCGGCCTCTAGAATGCTTTTTAAAAAACATTTTTTTCTTTTTCTTTTCTTTTTTTTTTTGAAATGGGGTCTCTCTCTGTCGTCCAGGCTAGAATGCAGTGGCGTGATCTCAACTCACTGCAACCTGCACCTCCCAGGCTCAAGCCATCCTCCAGCCTCTACCTCCCTAGTAGCTGAGACCACAGGTGCATGCCACCGCGCCCGGCTAATTTTTTTGTATTTTTGGTAGAGACCGGTTTTCACTATGTTGTCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCGATCCACTCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCCGGTCTAAAACATTTTTTTCATTTAAAAGTTATTGCCGGCGTGGTGGCTCATGCTTGTAATCCCGGCACTTTGGGAAGTTGAGATGGTGGATCACTTGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAGCCCTATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCCCCAGTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTTGCCATATATTCATTGGAAATTGTAGAAAATACAAAAAGAAAGCAATCCCAATAATGTTCCTCTTCTCGGTTCTAGAACCTCTAAACCAACAGATGTTTAGGCTTTGGGTGAAAAAGCACTATATCATGTTGACTAGTTCTGAGCATATGTGGCCTTAACTGAATCTTCAGTGGATTTTCAGACCTTTAAAAAGGCTGGCTGAGCAAGGCATGGTGGCTCATGCCTGTAATCCCAATACTTTGGAAGGTTGACGAGGGAAGATCATCTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCGAGACCCCCTTCTCTCCAAAAGGTTAAAAAATTAGCTG
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Task1_train_696
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With a mutation on Chromosome 1 in gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
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GGAGGACAGTGCTGCATATTTTGGGGGTGCCATCTTCAGCTCATAGAGAGAAGATGGGTTAACTCAGCCCAGGCACCACATCCCTAGTGGGGCCTTGGGGTCCAGAAACTGTCCCCAGCTTCCAGTAGAGGATCCGGGCATAACCTGCCCTGGGGCACCCGGCTCTGGCCCTGGGCACACCTGGACCAGGAGCAGCAGAAGAGATTCAGGTCAGACCCCAGAGGGCACCCCCAGCTAGGCAGAGGGGAAAGGATCACTATGGGGTAGGGGTGTGGGCCGGTTGCCAAGCCCAGTTTAGGGACCCCACAGATCCCTGCAGCCCACGGCCCTGCCTCCCTCCCTCCCTCACTGGCGCTCAGCAGATCAATGCTGCCTTTGCTGACAGCTGAGAATCGAGCTCGCCTTCCCGCCCCTTCCCCCGCCCCTCCCGCTCGGCTTCGTCCCTCGAGATCCTCCCGGAGGAACCGGGAAGAGTTTGCTGCGGAAGGCTCACCCTGGGGCAGGGCCTGCGGAGGGAGCGGCTGGTGTGGCCGCAGCTTTCCGTGGAGGAAGAGGGAAAGAGGATCGGGAAACCCAAGTTACCAACCCTGTGCAGGGCCCAGGAGGGCTAAAGGAGAGGGACTGCCCCCTACAGCCAGAGAGATGGAGGTCGGGGACTAAGAAAAACTTTCCAGCTGGAGAGGGAATGCCCTGGGACAAAGTATCCCCTTTTCTGGCTGGGATTCTGTGGGCCTTGGGTAGGGGGTGTGTGTCCCCTCTAAGGCTGGCTTAGAGCTCATCTCCCAACACTCCATCTGCCCAAACCCAGTTCCCTGACCTGGGAGTGGGGCAGGGGAGCAGGCCCCTCCATCGGGGAGGATCCTCTTCTGGGCAGGGTGGCTCTTCCCCCATCACGATGAAGGGAAGCTCAGAGGTGGCAGTTGGTGGGAGAAAGACACACCCAGGCCCACTGTGTTCCACACACCCTGATGCTGCCTAGCAGCCCGTGGGCTCCAGGCCTTTCAGGTAAGAGCAGGACAACCGCCGCTGCCCACCCAGCCACACACAGCACTGGGCACACTTTAAGCACCCGCACCAGGCACACAGTGCTCGACCCCAACGGACACACCTCATCCCCTTCGGACTCCACCTCCACTTTCGCAGCCACCCACACCCGACCCATAACTCACACCTCACTGACTCCATCCCCGCACCTGGTAGACCCACAGCCACCCACCCTGCACACACAAGTAGACGCCGTTCCACCGGTCTACACCTAAACTCCACGGGACACTGCGTCCCTTCCCCTGCCGCCCGCGGCCACAACTCCACATTCCACTTTCCACAAGCACACACGAGGCGTCCCACCCCGGGCTGGCCTTCGGGGCCACACTGCCCCACGCAGCGGTGGACACCACTTGCACGCGTCCGGCTTCCCGGCCCCGCGCGCTGCCCCCGCCACGCGGTTCGGCCCAGGCACCAACTCGGCCGCCCGTGCGCCCTGCCCCGCCGCCTGCTCCGCGCGTTCCCTCCCTCCGCCTCGCCTCGCTTGCTCGCTCGCTCCCTCCCGATTTGGGAAGGCGGCCGCGGGGCGGGCGGGGGAGGGGCGGGGCGGGGGAGGGTGACATGTGAGCGGCGCGCGCCGGTGGCAGGTGGAAAGGCGAGCGGCATGGAGCGCGTAATAAGAGAGTTGGAGTCGGAAAGAGCAGCCCCAGTCGCCGGGGAAGCGGGAGGTCAGTGCGGGCTCCGGCGGCCCCCAGGCTCCGAGCGCCCGCCCGCGGCCCCGGCCCGGCCCCTAGCCCCCGCCGCCCGCGCCCGCCCCGGGTCGCCCCTCTGGCCCCGGGTCCGAGCCATGCGTCTCTGAGCGCCCCGAGCGCGCCCCCGCCCCGGACCGTGCCCGGGCCCCGGCGCCCCCAGCCCGGCGCCGCCCATGGCCGAGGCCCCCCCGCGCCGCCTCGGCCTGGGTCCCCCGCCCGGGGACGCCCCCCGCGCGGAGCTAGTGGCGCTCACGGCCGTGCAGAGCGAACAGGGCGAGGCGGGCGGGGGCGGCTCCCCGCGCCGCCTCGGCCTCCTGGGCAGCCCCCTGCCGCCGGGCGCGCCCCTCCCTGGGCCGGGCTCCGGCTCGGGCTCCGCCTGCGGCCAGCGCTCCTCGGCCGCGCACAAGCGCTACCGCCGCCTGCAGAACTGGGTCTACAACGTGCTGGAGCGGCCCCGCGGCTGGGCCTTCGTCTACCACGTCTTCATGTGAGTTTGCGACCCCGCGCCCTTCCGCGTTTCCCCGCGCAAGCCTGGCCTCCCGGGGCACGGCCGCCCCGCCCTGGCTCCGCCTTCTACCCCCCTGCCTCAGGGCCGACCCTCATCTCTCTCCCCCCAGGCCTAAGCCCGGTTTCTGATCCCCTCGCTGAGCCCGACCCTAAGCCCTGATCTCCCAGGCCTGACCCCTGCTTGACCTCGCTTCTGACCTCCCCGCACCGCAACTGCTTATTTCCATCCTGACCGCCAATCTCTGCTCCTCTGTCCCAGGTACTCCCGACCGCCAGCTGCCTCCCCCAAGTCCGCTTGGCGAAGTCTGGGGCCCCTGGAGTGGGCGCCCTTTTCCTCTTCCCCACCCCTGCCTCCCTGTGTCCCAGACACAAAGAGGAACCCTTGGCTCCCACACGCTTCTGTCACCTGCTCCCCAGCTCTGAGCTATGAAGGGCTCCCCTCAGGGGTGCTCCTCTCCAGGGCGGCCCTCATTCCTACCCCTGCCCAGCTGACTGTGGGTGTGTGGGGGTCCCTGTGGGCCCCCTGGGCCCTGACACTCGCATATGCTGTGTCCGACTTGATCTGTGTCTTCGCTCAGTCTTCCCCTCCACCCTCAACTTCCCAGTGGCAACGGCGGCCGCCCTGCCTGCCCTGCCCTACCCTGCCGGCTTGGCCCAGCTCGCCTGCCTTGTTGGCTGGCAGCACCAGGCCTGGCTCTAGGCACCAGGGGAAAAAGAAAGAGGAGAGGGGTAGGTTTGGAAACACTGACGCTGCTGGGGCCCCCTCCTCCCTCTCACCAGGCTCCTACAACTTTCAAAAACACTGACCCCTCTTGGGTGTGAAGAGTGAATTTTGGCAGCTCAGAGCTCAGTCTTGGGGTACGGCCTGGCCCAGCCAGGAACATGAGAGGCCCCGCAGATATCAGTTGAAGGGCTGGGCCTGACGCTGGGACGCTCAGAGGTGCCCAGAGAGAGACCTCTGGTCCCTGGAAAATGTGTGGCTATTAATCCCTTTTTGCTGCCACCAGAGAGGGCCCTTTGGCGCTGGGGTCTCCTGGGTGGCCCACCTGCCTGCCCACCTGACTGTCTAGCAGCCCTCCTGCTGGCCTGGCTGTCCCTCTGCCAGCCTGAGTTTCCACCTGTGTGCGAGTTGGCCAGTCTGCTCACCCTTCCACCTAACTGTCCGCAGTCCTTCTGCTTGCCTGTTTCCATCCATCTGTGGCCTGTGCAGTTATCCGGGTGCCTGTCTGTGCATCTGCCTATCCACCTGTCCACCTGACTGTCCACTCTTCCTCTACCTGTCTTTTCCACCTGTCTCTGGGTCTGTCCTTCGGCCTGTTTCTCGGGTGCTTGCTGGCCTGCCTCTGCCCCATCTGAACTGGGCCCACATAATTTCAGAGGTGAAGGGGAGAAAGATGCGGCACAGGGAGGGGCAGGGGGGGAAGACAGCAGGGCTCTCTCGGCCATTAAGTGCGTTGGGGGTGGCAACCTTGACTCTGTGCAGAGACCTCAGCTGGGCTAGGCTGGGGCAGAGAGTTGAAATTGCTCAGGACATGAGGTCAAGCTTCGGTTCAGGGTCAACGGTTTGTAGTAGCCCAGTCCTTAGTGTCCATTGGGAGGCCTAGGATGAATATTTGTGGCTATAAAGAGGCCCGTTGGAGTGAGGAAGGCCCAGGGCTGGTGGAGTTGGGGGTGAGGGGATGGGGACTACTTCTTAGGAGTGGCTACAGAGCAGCCTCCTTGAGTGCCTAAGGAGGGTGAGACACCCCCCAGAGAACAACTGTGCCCTCCGTGGGCTCCTCTTGGGAAGGGACTTTTCCAAGGCATGGCAGGGCCTGGGGAAGCCAATAGGGCTCTGAGGTGGGGTCCTTACC
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GGAGGACAGTGCTGCATATTTTGGGGGTGCCATCTTCAGCTCATAGAGAGAAGATGGGTTAACTCAGCCCAGGCACCACATCCCTAGTGGGGCCTTGGGGTCCAGAAACTGTCCCCAGCTTCCAGTAGAGGATCCGGGCATAACCTGCCCTGGGGCACCCGGCTCTGGCCCTGGGCACACCTGGACCAGGAGCAGCAGAAGAGATTCAGGTCAGACCCCAGAGGGCACCCCCAGCTAGGCAGAGGGGAAAGGATCACTATGGGGTAGGGGTGTGGGCCGGTTGCCAAGCCCAGTTTAGGGACCCCACAGATCCCTGCAGCCCACGGCCCTGCCTCCCTCCCTCCCTCACTGGCGCTCAGCAGATCAATGCTGCCTTTGCTGACAGCTGAGAATCGAGCTCGCCTTCCCGCCCCTTCCCCCGCCCCTCCCGCTCGGCTTCGTCCCTCGAGATCCTCCCGGAGGAACCGGGAAGAGTTTGCTGCGGAAGGCTCACCCTGGGGCAGGGCCTGCGGAGGGAGCGGCTGGTGTGGCCGCAGCTTTCCGTGGAGGAAGAGGGAAAGAGGATCGGGAAACCCAAGTTACCAACCCTGTGCAGGGCCCAGGAGGGCTAAAGGAGAGGGACTGCCCCCTACAGCCAGAGAGATGGAGGTCGGGGACTAAGAAAAACTTTCCAGCTGGAGAGGGAATGCCCTGGGACAAAGTATCCCCTTTTCTGGCTGGGATTCTGTGGGCCTTGGGTAGGGGGTGTGTGTCCCCTCTAAGGCTGGCTTAGAGCTCATCTCCCAACACTCCATCTGCCCAAACCCAGTTCCCTGACCTGGGAGTGGGGCAGGGGAGCAGGCCCCTCCATCGGGGAGGATCCTCTTCTGGGCAGGGTGGCTCTTCCCCCATCACGATGAAGGGAAGCTCAGAGGTGGCAGTTGGTGGGAGAAAGACACACCCAGGCCCACTGTGTTCCACACACCCTGATGCTGCCTAGCAGCCCGTGGGCTCCAGGCCTTTCAGGTAAGAGCAGGACAACCGCCGCTGCCCACCCAGCCACACACAGCACTGGGCACACTTTAAGCACCCGCACCAGGCACACAGTGCTCGACCCCAACGGACACACCTCATCCCCTTCGGACTCCACCTCCACTTTCGCAGCCACCCACACCCGACCCATAACTCACACCTCACTGACTCCATCCCCGCACCTGGTAGACCCACAGCCACCCACCCTGCACACACAAGTAGACGCCGTTCCACCGGTCTACACCTAAACTCCACGGGACACTGCGTCCCTTCCCCTGCCGCCCGCGGCCACAACTCCACATTCCACTTTCCACAAGCACACACGAGGCGTCCCACCCCGGGCTGGCCTTCGGGGCCACACTGCCCCACGCAGCGGTGGACACCACTTGCACGCGTCCGGCTTCCCGGCCCCGCGCGCTGCCCCCGCCACGCGGTTCGGCCCAGGCACCAACTCGGCCGCCCGTGCGCCCTGCCCCGCCGCCTGCTCCGCGCGTTCCCTCCCTCCGCCTCGCCTCGCTTGCTCGCTCGCTCCCTCCCGATTTGGGAAGGCGGCCGCGGGGCGGGCGGGGGAGGGGCGGGGCGGGGGAGGGTGACATGTGAGCGGCGCGCGCCGGTGGCAGGTGGAAAGGCGAGCGGCATGGAGCGCGTAATAAGAGAGTTGGAGTCGGAAAGAGCAGCCCCAGTCGCCGGGGAAGCGGGAGGTCAGTGCGGGCTCCGGCGGCCCCCAGGCTCCGAGCGCCCGCCCGCGGCCCCGGCCCGGCCCCTAGCCCCCGCCGCCCGCGCCCGCCCCGGGTCGCCCCTCTGGCCCCGGGTCCGAGCCATGCGTCTCTGAGCGCCCCGAGCGCGCCCCCGCCCCGGACCGTGCCCGGGCCCCGGCGCCCCCAGCCCGGCGCCGCCCATGGCCGAGGCCCCCCCGCGCCGCCTCGGCCTGGGTCCCCCGCCCGGGGACGCCCCCCGCGCGGAGCTAGTGGCGCTCACGGCCGTGCAGAGCGAACAGGGCGAGGCGGGCGGGGGCGGCTCCCCGCGCCGCCTCGGCCCCCTGGGCAGCCCCCTGCCGCCGGGCGCGCCCCTCCCTGGGCCGGGCTCCGGCTCGGGCTCCGCCTGCGGCCAGCGCTCCTCGGCCGCGCACAAGCGCTACCGCCGCCTGCAGAACTGGGTCTACAACGTGCTGGAGCGGCCCCGCGGCTGGGCCTTCGTCTACCACGTCTTCATGTGAGTTTGCGACCCCGCGCCCTTCCGCGTTTCCCCGCGCAAGCCTGGCCTCCCGGGGCACGGCCGCCCCGCCCTGGCTCCGCCTTCTACCCCCCTGCCTCAGGGCCGACCCTCATCTCTCTCCCCCCAGGCCTAAGCCCGGTTTCTGATCCCCTCGCTGAGCCCGACCCTAAGCCCTGATCTCCCAGGCCTGACCCCTGCTTGACCTCGCTTCTGACCTCCCCGCACCGCAACTGCTTATTTCCATCCTGACCGCCAATCTCTGCTCCTCTGTCCCAGGTACTCCCGACCGCCAGCTGCCTCCCCCAAGTCCGCTTGGCGAAGTCTGGGGCCCCTGGAGTGGGCGCCCTTTTCCTCTTCCCCACCCCTGCCTCCCTGTGTCCCAGACACAAAGAGGAACCCTTGGCTCCCACACGCTTCTGTCACCTGCTCCCCAGCTCTGAGCTATGAAGGGCTCCCCTCAGGGGTGCTCCTCTCCAGGGCGGCCCTCATTCCTACCCCTGCCCAGCTGACTGTGGGTGTGTGGGGGTCCCTGTGGGCCCCCTGGGCCCTGACACTCGCATATGCTGTGTCCGACTTGATCTGTGTCTTCGCTCAGTCTTCCCCTCCACCCTCAACTTCCCAGTGGCAACGGCGGCCGCCCTGCCTGCCCTGCCCTACCCTGCCGGCTTGGCCCAGCTCGCCTGCCTTGTTGGCTGGCAGCACCAGGCCTGGCTCTAGGCACCAGGGGAAAAAGAAAGAGGAGAGGGGTAGGTTTGGAAACACTGACGCTGCTGGGGCCCCCTCCTCCCTCTCACCAGGCTCCTACAACTTTCAAAAACACTGACCCCTCTTGGGTGTGAAGAGTGAATTTTGGCAGCTCAGAGCTCAGTCTTGGGGTACGGCCTGGCCCAGCCAGGAACATGAGAGGCCCCGCAGATATCAGTTGAAGGGCTGGGCCTGACGCTGGGACGCTCAGAGGTGCCCAGAGAGAGACCTCTGGTCCCTGGAAAATGTGTGGCTATTAATCCCTTTTTGCTGCCACCAGAGAGGGCCCTTTGGCGCTGGGGTCTCCTGGGTGGCCCACCTGCCTGCCCACCTGACTGTCTAGCAGCCCTCCTGCTGGCCTGGCTGTCCCTCTGCCAGCCTGAGTTTCCACCTGTGTGCGAGTTGGCCAGTCTGCTCACCCTTCCACCTAACTGTCCGCAGTCCTTCTGCTTGCCTGTTTCCATCCATCTGTGGCCTGTGCAGTTATCCGGGTGCCTGTCTGTGCATCTGCCTATCCACCTGTCCACCTGACTGTCCACTCTTCCTCTACCTGTCTTTTCCACCTGTCTCTGGGTCTGTCCTTCGGCCTGTTTCTCGGGTGCTTGCTGGCCTGCCTCTGCCCCATCTGAACTGGGCCCACATAATTTCAGAGGTGAAGGGGAGAAAGATGCGGCACAGGGAGGGGCAGGGGGGGAAGACAGCAGGGCTCTCTCGGCCATTAAGTGCGTTGGGGGTGGCAACCTTGACTCTGTGCAGAGACCTCAGCTGGGCTAGGCTGGGGCAGAGAGTTGAAATTGCTCAGGACATGAGGTCAAGCTTCGGTTCAGGGTCAACGGTTTGTAGTAGCCCAGTCCTTAGTGTCCATTGGGAGGCCTAGGATGAATATTTGTGGCTATAAAGAGGCCCGTTGGAGTGAGGAAGGCCCAGGGCTGGTGGAGTTGGGGGTGAGGGGATGGGGACTACTTCTTAGGAGTGGCTACAGAGCAGCCTCCTTGAGTGCCTAAGGAGGGTGAGACACCCCCCAGAGAACAACTGTGCCCTCCGTGGGCTCCTCTTGGGAAGGGACTTTTCCAAGGCATGGCAGGGCCTGGGGAAGCCAATAGGGCTCTGAGGTGGGGTCCTTACC
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Task1_train_697
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This mutation is located in gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
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GCTGTCTGCAGGGAAGTTCCTGGCCTCGATGGCCCAGCTCCACACTGCCCAATTCCCCTCCCTACATCCTCTCCCTGCTGCATCATTCCTTCTCTACCTGTCCTCCATGATCCTCTTTCCTTTTCTAGCTGTCTCGTTACTTAATTCCACGAAGGCAGGGGCAGTTGTCCCAATTCTGCAGATGAGGCCAGGCTCCTGCCACTTTGGAGTGCATAAGAAAGAAGGTCCCTCCTTCATCCGCTGACCTTCCCTGAGCCCTGGGCTGACCTCTGGGGCACTTCTCCCAAGACATCTTAAAACCAAGCTGGGGCCAAGGCCACCACTTGTGGATGGCTAGACCTGGAGGAACCCTGAGTCAGTCTATTTCCACTGCCAGACCTGCTACTCACAGATGAGTGACTACCTCTCTGAGCTGCAGCCTGCAGCAGGGGGCAATTGAGATAGTTGTGAGGTCCAGTAGCTTGGGGCTTGAGGGCTGCTGCCTTTGGTGCCCAGCACAGAGCTGTAACTCCAGGGAATTCCAATTCTGATTTCCACATAATTTTCTGAAAATAATGTTCTCCTCTCTTGGCTCTGTAACCCCCTGCCAGGGGCACCTTGGCTGTCCTGTCCCTCCAACAATCTAACCCTCTCCCTCATGTTGTAATTGCAGATTTTTGCTGGTCTTCAGCTGCCTGGTGCTGTCTGTGCTGTCCACTATCCAGGAGCACCAGGAACTTGCCAACGAGTGTCTCCTCATCTTGGTAAGTGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAAT
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GCTGTCTGCAGGGAAGTTCCTGGCCTCGATGGCCCAGCTCCACACTGCCCAATTCCCCTCCCTACATCCTCTCCCTGCTGCATCATTCCTTCTCTACCTGTCCTCCATGATCCTCTTTCCTTTTCTAGCTGTCTCGTTACTTAATTCCACGAAGGCAGGGGCAGTTGTCCCAATTCTGCAGATGAGGCCAGGCTCCTGCCACTTTGGAGTGCATAAGAAAGAAGGTCCCTCCTTCATCCGCTGACCTTCCCTGAGCCCTGGGCTGACCTCTGGGGCACTTCTCCCAAGACATCTTAAAACCAAGCTGGGGCCAAGGCCACCACTTGTGGATGGCTAGACCTGGAGGAACCCTGAGTCAGTCTATTTCCACTGCCAGACCTGCTACTCACAGATGAGTGACTACCTCTCTGAGCTGCAGCCTGCAGCAGGGGGCAATTGAGATAGTTGTGAGGTCCAGTAGCTTGGGGCTTGAGGGCTGCTGCCTTTGGTGCCCAGCACAGAGCTGTAACTCCAGGGAATTCCAATTCTGATTTCCACATAATTTTCTGAAAATAATGTTCTCCTCTCTTGGCTCTGTAACCCCCTGCCAGGGGCACCTTGGCTGTCCTGTCCCTCCAACAATCTAACCCTCTCCCTCATGTTGTAATTGCAGATTTTTGCTGGTCTTCAGCTGCCTGGTGCTGTCTGTGCTGTCCACTATCCAGGAGCACCAGGAACTTGCCAACGAGTGTCTCCTCATCTTGGTAAGTGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGAGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAAT
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Task1_train_698
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Gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Bilateral sensorineural hearing impairment
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GAAGTTCCTGGCCTCGATGGCCCAGCTCCACACTGCCCAATTCCCCTCCCTACATCCTCTCCCTGCTGCATCATTCCTTCTCTACCTGTCCTCCATGATCCTCTTTCCTTTTCTAGCTGTCTCGTTACTTAATTCCACGAAGGCAGGGGCAGTTGTCCCAATTCTGCAGATGAGGCCAGGCTCCTGCCACTTTGGAGTGCATAAGAAAGAAGGTCCCTCCTTCATCCGCTGACCTTCCCTGAGCCCTGGGCTGACCTCTGGGGCACTTCTCCCAAGACATCTTAAAACCAAGCTGGGGCCAAGGCCACCACTTGTGGATGGCTAGACCTGGAGGAACCCTGAGTCAGTCTATTTCCACTGCCAGACCTGCTACTCACAGATGAGTGACTACCTCTCTGAGCTGCAGCCTGCAGCAGGGGGCAATTGAGATAGTTGTGAGGTCCAGTAGCTTGGGGCTTGAGGGCTGCTGCCTTTGGTGCCCAGCACAGAGCTGTAACTCCAGGGAATTCCAATTCTGATTTCCACATAATTTTCTGAAAATAATGTTCTCCTCTCTTGGCTCTGTAACCCCCTGCCAGGGGCACCTTGGCTGTCCTGTCCCTCCAACAATCTAACCCTCTCCCTCATGTTGTAATTGCAGATTTTTGCTGGTCTTCAGCTGCCTGGTGCTGTCTGTGCTGTCCACTATCCAGGAGCACCAGGAACTTGCCAACGAGTGTCTCCTCATCTTGGTAAGTGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAG
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GAAGTTCCTGGCCTCGATGGCCCAGCTCCACACTGCCCAATTCCCCTCCCTACATCCTCTCCCTGCTGCATCATTCCTTCTCTACCTGTCCTCCATGATCCTCTTTCCTTTTCTAGCTGTCTCGTTACTTAATTCCACGAAGGCAGGGGCAGTTGTCCCAATTCTGCAGATGAGGCCAGGCTCCTGCCACTTTGGAGTGCATAAGAAAGAAGGTCCCTCCTTCATCCGCTGACCTTCCCTGAGCCCTGGGCTGACCTCTGGGGCACTTCTCCCAAGACATCTTAAAACCAAGCTGGGGCCAAGGCCACCACTTGTGGATGGCTAGACCTGGAGGAACCCTGAGTCAGTCTATTTCCACTGCCAGACCTGCTACTCACAGATGAGTGACTACCTCTCTGAGCTGCAGCCTGCAGCAGGGGGCAATTGAGATAGTTGTGAGGTCCAGTAGCTTGGGGCTTGAGGGCTGCTGCCTTTGGTGCCCAGCACAGAGCTGTAACTCCAGGGAATTCCAATTCTGATTTCCACATAATTTTCTGAAAATAATGTTCTCCTCTCTTGGCTCTGTAACCCCCTGCCAGGGGCACCTTGGCTGTCCTGTCCCTCCAACAATCTAACCCTCTCCCTCATGTTGTAATTGCAGATTTTTGCTGGTCTTCAGCTGCCTGGTGCTGTCTGTGCTGTCCACTATCCAGGAGCACCAGGAACTTGCCAACGAGTGTCTCCTCATCTTGGTAAGTGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCTTAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAG
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Task1_train_699
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A genetic alteration is present in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
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GACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGC
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GACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGTCGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGC
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Subsets and Splits
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