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_14000
|
This mutation is located in gene PRF1 (perforin 1) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Familial hemophagocytic lymphohistiocytosis 2
|
GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATAGGTCACAGCACTTCCTGCTCCATCAGCCTCTTCCCCTCCACCCAGGGCCCCAGGCCCCCCAATCCCTGCTCTCTCCTTACCTGGAATCCCGTATAGAGAAGCGGCTACACAGATGGATATCCTCTCTTCACCGAGGCTCCTGGAATGGTGGCATCAGCCCCCCAGGCAGCCCACTGTGGCTCCTTGCACCAGCCACCACTCACATCACTTCTACTTCCTGCCCCGC
|
GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCAGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATAGGTCACAGCACTTCCTGCTCCATCAGCCTCTTCCCCTCCACCCAGGGCCCCAGGCCCCCCAATCCCTGCTCTCTCCTTACCTGGAATCCCGTATAGAGAAGCGGCTACACAGATGGATATCCTCTCTTCACCGAGGCTCCTGGAATGGTGGCATCAGCCCCCCAGGCAGCCCACTGTGGCTCCTTGCACCAGCCACCACTCACATCACTTCTACTTCCTGCCCCGC
|
Task1_train_14001
|
Chromosome 10 houses a mutation in gene PRF1 (perforin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Aplastic anemia
|
GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATAGGTCACAGCACTTCCTGCTCCATCAGCCTCTTCCCCTCCACCCAGGGCCCCAGGCCCCCCAATCCCTGCTCTCTCCTTACCTGGAATCCCGTATAGAGAAGCGGCTACACAGATGGATATCCTCTCTTCACCGAGGCTCCTGGAATGGTGGCATCAGCCCCCCAGGCAGCCCACTGTGGCTCCTTGCACCAGCCACCACTCACATCACTTCTACTTCCTGCCCCGC
|
GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCAGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATAGGTCACAGCACTTCCTGCTCCATCAGCCTCTTCCCCTCCACCCAGGGCCCCAGGCCCCCCAATCCCTGCTCTCTCCTTACCTGGAATCCCGTATAGAGAAGCGGCTACACAGATGGATATCCTCTCTTCACCGAGGCTCCTGGAATGGTGGCATCAGCCCCCCAGGCAGCCCACTGTGGCTCCTTGCACCAGCCACCACTCACATCACTTCTACTTCCTGCCCCGC
|
Task1_train_14002
|
This alteration occurs within gene PRF1 (perforin 1) located on Chromosome 10. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Familial hemophagocytic lymphohistiocytosis 2
|
GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATAGGTCACAGCACTTCCTGCTCCATCAGCCTCTTCCCCTCCACCCAGGGCCCCAGGCCCCCCAATCCCTGCTCTCTCCTTACCTGGAATCCCGTATAGAGAAGCGGCTACACAGATGGATATCCTCTCTTCACCGAGGCTCCTGGAATGGTGGCATCAGCCCCCCAGGCAGCCCACTGTGGCTCCTTGCACCAGCCACCACTCACATCACTTCTACTTCCTGCCCCGC
|
GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCAGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATAGGTCACAGCACTTCCTGCTCCATCAGCCTCTTCCCCTCCACCCAGGGCCCCAGGCCCCCCAATCCCTGCTCTCTCCTTACCTGGAATCCCGTATAGAGAAGCGGCTACACAGATGGATATCCTCTCTTCACCGAGGCTCCTGGAATGGTGGCATCAGCCCCCCAGGCAGCCCACTGTGGCTCCTTGCACCAGCCACCACTCACATCACTTCTACTTCCTGCCCCGC
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Task1_train_14003
|
A sequence alteration has been identified in PRF1 (perforin 1) on Chromosome 10. Is it disease-inducing or harmless?
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Pathogenic; Familial hemophagocytic lymphohistiocytosis 2
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GGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATAGGTCACAGCACTTCCTGCTCCATCAGCCTCTTCCCCTCCACCCAGGGCCCCAGGCCCCCCAATCCCTGCTCTCTCCTTACCTGGAATCCCGTATAGAGAAGCGGCTACACAGATGGATATCCTCTCTTCACCGAGGCTCCTGGAATGGTGGCATCAGCCCCCCAGGCAGCCCACTGTGGCTCCTTGCACCAGCCACCACTCACATCACTTCTACTTCCTGCCCCGCCCCCAGCTGTGGTCACAGGTCCTTTGT
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GGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCTGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATAGGTCACAGCACTTCCTGCTCCATCAGCCTCTTCCCCTCCACCCAGGGCCCCAGGCCCCCCAATCCCTGCTCTCTCCTTACCTGGAATCCCGTATAGAGAAGCGGCTACACAGATGGATATCCTCTCTTCACCGAGGCTCCTGGAATGGTGGCATCAGCCCCCCAGGCAGCCCACTGTGGCTCCTTGCACCAGCCACCACTCACATCACTTCTACTTCCTGCCCCGCCCCCAGCTGTGGTCACAGGTCCTTTGT
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Task1_train_14004
|
Gene PRF1 (perforin 1), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Aplastic anemia
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GGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATAGGTCACAGCACTTCCTGCTCCATCAGCCTCTTCCCCTCCACCCAGGGCCCCAGGCCCCCCAATCCCTGCTCTCTCCTTACCTGGAATCCCGTATAGAGAAGCGGCTACACAGATGGATATCCTCTCTTCACCGAGGCTCCTGGAATGGTGGCATCAGCCCCCCAGGCAGCCCACTGTGGCTCCTTGCACCAGCCACCACTCACATCACTTCTACTTCCTGCCCCGCCCCCAGCTGTGGTCACAGGTCCTTTGT
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GGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCTGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATAGGTCACAGCACTTCCTGCTCCATCAGCCTCTTCCCCTCCACCCAGGGCCCCAGGCCCCCCAATCCCTGCTCTCTCCTTACCTGGAATCCCGTATAGAGAAGCGGCTACACAGATGGATATCCTCTCTTCACCGAGGCTCCTGGAATGGTGGCATCAGCCCCCCAGGCAGCCCACTGTGGCTCCTTGCACCAGCCACCACTCACATCACTTCTACTTCCTGCCCCGCCCCCAGCTGTGGTCACAGGTCCTTTGT
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Task1_train_14005
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This alteration in PRF1 (perforin 1) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Familial hemophagocytic lymphohistiocytosis 2
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CCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCATGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATAGGTCACAGCACTTCCTGCTCCATCAGCCTCTTCCCCTCCACCCAGGGCCCCAGGCCCCCCAATCCCTGCTCTCTCCTTACCTGGAATCCCGTATAGAGAAGCGGCTACACAGATGGATATCCTCTCTTCACCGAGGCTCCTGGAATGGTGGCATCAGCCCCCCAGGCAGCCCACTGTGGCTCCTTGCACCAGCCACCACTCACATCACTTCTACTTCCTGCCCCGCCCCCAGCTGTGGTCACAGGTCCTTTGTGCTCTCCCCTCCCACAAGCACCCACCCTGTCCTCAGCCCTCATCCGGCTCCCCACTGACAGCCCTCAGGAAGCGAGCAGCAGGGCCAGAGGCTCATCTGCCGAGTAGAGCTGCTGGGGCTCGGGGACTCAG
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CCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACCACATGGAAACTGCGAGAAGAGAGAGACCTCAGCTGGGCCCAGGGGAGTATTTCCCCCATTCAATCAAATAACTCCTTCAGGACTGCTCAAGGTCACATGTAAGTGGGCAGAACTAGGACTGGAACCCAGGGGCCCGGCTCCAGAGCACAAGCACAGTGGCACGGGGCTGGCAGGAATGCCTCCGCTCTCACCCCTCAGGGACCTCAGTGCTCTGTATAGGTATTTTCTCTTTTCCTTTTCAAAATAACATTTTTTTCTTTCCTTTTAATTTTCTTATTATAAAAGCAATGATCCTGGCCGGGAGCAGTGGTTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTATTTTTTTTTTAAGAAAAAGTAAAAAAGAACATAAAAGCAATGATCCTGCACTGATGGTATCTGTCGAACTTTGGAACTAGTCATGTGGCCTTCATCCATCCGTCCCCCTGGATGGGTCCCACATGCCCGGGATCCTGACAGCTTGGGCCATGCTCGGCCTCTCTGTGGAGGAAACGTGGCCCCCAGGTCTGATGAATCAGACCAGGTGACTTGGGTCTGGCCTACAAACACTGTGCCTTTCTCAGACGTGGAATATGGGTCCCATACTTCCTACTCCCAGGGGCTAGGGTAGTGACTGCTGTCGCTCAGCAGTGTGGCCCTGCCACAGGCAGGTGTGAGTATTGGTTGAGTGGATGATTGAAGCTCAGAGAGAAGTGAGATGCTCAAGGTCACACAGCGATGAGGAAGGATGACCCGGCCAGGTCTCCTGCCTCTGTCCCTATCCAGGAAGGACTCTGTGGAAGGCTGGCTGTGCCCAGGAAAGGCAGGGTTCAGTACTCACTAGACCTAAATGGCACCCTGCTGGGACTCTCAGGCATGGTCTCACTCACTTTCTCTCTACTTGATGTCTCACTGGGCACTCCCAGATTTGGGACCTCCTGGATGAGAGGAGGCCACAGGGCTGAATCACCTGAAGTCTGAGAGCCAGGATTGCAGTTTCTTCCTGGTGGAAGCAGCCTCCAAGTTTGATTGGAGGACTCTGCCTTTCCAGGGCTCCTAGACCACCCAGAGTTTCCCGCGCCTTTTCCAGCCCCCCACCCCTAGCCCCAGCTCTCACCTGTAGAAGCGGCACTCCACCGTGTCAGTGCTGAAGCTGTACTGGTCCTGGTGGGTCTTCTGGGCTGCAAAGTTGGCTGCCTGTGAGTGTGAGCCGGCCACAGACACATGCACATTGCTGGTGGGCTTAGGAGTCACGTCCAGCCCGACCTTCCAGTCGTTGCGGATGCTACGAGCCGCATCCCGGGCCACAGCTTCAGTGGAGCTGACTTTGGCCCTGGTTACATGGCGCTGGCAGCCAGAGCCCTGGGCCCGCCAGTTGGTGAGCGCCAGAGGCAGGCGCTGGAGGGTGCCCTCCTGTAGGGCATTTTCACAGAGGGTGCAGGTGCCGTCGGGCCGCAGGAACCTTTGTGTGTCCACTGGGAAGGAGCCCGAGCGGCGGAGGCTGGTCACGTCCACACCCTCCCCGGCCAGCCATGCACCAGGCACGAACTTGTGGCTGCGCTTGCACTCTGAGCGTGCGGCTGTGTGGCACGGGGCAGGGACGGGCAGGGGCAGCAGCAGGAGAAGGATGCCCAGGAGGAGCAGACGGGCTGCCGTGGAGCTGCAGAGACAGGGGGCACTTGGGCTCTGGGAAGCCATGGGTGGAGGGATGGAGGATGACTGCTCCCTTCCCCCACAGCCACAGATTATCAGGGCACATGGAAGGGGAGGGGCTGAGATATCTCTTAAGTCATTATTCAATGAATGTCAGAGCTGGTATGTCCCTTATAGGCCTGGTTCAGCCCCCACATTGTACAGATGGGCCCAGAGAGGGGAAAAGCCCAGCCAAGGGGAGCCCCTTTTTAGAATTTCCCTAAGGCCTAATGGGGATCTAGGTGGATGGCTCTGTCCCCAGGACACAACTGTGGGTGGTGGGGAGGGGGCTGTGGCCACAGAAGAGGGGACAGAGTAGCTGTAGCAGGTTTAGGGAGGGGTCTGGGGACCTGAGGAAGCCTTCATTCTGAAGAAGTGTCATTTTTGGCCCCAGAACAAGCCACCCTTTGCCCACCCTGACTCTCACTCTGTTTCTTTGTCTCTGTCACTCTCTCTAACCTCTCTCCCTCCCACTGAGCCCTTAACAGAATTGGAAGAGAAATGAGGTCCTATATTGCACCTATTCTTCTCATTTTCCCTTTGGGGCTCTCCCTCTGAGCTTTATGGAATAACATCAGCCCGAATTCTAGAATAAAATCTGCCGACCTGGCCAGGTGTGGTGGCTCACACCTGTAAACCGAACACTGTGGGAGGCAGAGGCAGGTGGATCACTGGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCCTCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCCGCCTGGGTGATAGAGTAAGACTCTGCCTCAAAAAAAAAAAAAAAAAGGGGCAGACCTGACCACACCCTTGGATTTTGTGTGGGGAGAGGCCTCGATGGTTGCTCTTCAGATCCTTTCTTGCTGCCCCTCCCCTCTTTGCCACTCCCTGCCAAGCTCTGTGGCCTTCGGCAGTGACAGGGGCCCCCCTATTGCCTACTATGGACAATGATTGTCTGGAAGGTTCTTCCTAATTTTAAGGTGTTTCTGGGGCCTTGCCTGGGCCTGTTTATGATCTGGAACCTCCTTTCTCTAACCTTACCCAAGCCTAACCTTATCCAAGCTGAGCTCTTCAAAGGCCTTTGCCCTTGGGTACCACAGGTTCTGAGACAAGAGGGCTATGGAGAGCCCCCATTATAGCTGGAGCCTCCTGCCCTGCCCAAAGGTGTGACTTGAAGGGTGGAATTTCAGGCAGCGTGGCTCGCCCCAGGGAGGCAAAGAGGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGGCACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCATGGTATTCTGTCCCAGGGAGCCTCTTTCCAGCTTTCTTAGAAGCTTTAATGTCAGCACTTGCAGGGCCTTAGAAACTGCACGCTACCTCTTCATTTCATACATGAGGAAACTGAGGCCCAGGGTGGACACAGGGCTGCCCAGCGAGTTAGTGATGGGCACCGTCTGTGACCCAGGTGTCTTGTCTTATAGGTCACAGCACTTCCTGCTCCATCAGCCTCTTCCCCTCCACCCAGGGCCCCAGGCCCCCCAATCCCTGCTCTCTCCTTACCTGGAATCCCGTATAGAGAAGCGGCTACACAGATGGATATCCTCTCTTCACCGAGGCTCCTGGAATGGTGGCATCAGCCCCCCAGGCAGCCCACTGTGGCTCCTTGCACCAGCCACCACTCACATCACTTCTACTTCCTGCCCCGCCCCCAGCTGTGGTCACAGGTCCTTTGTGCTCTCCCCTCCCACAAGCACCCACCCTGTCCTCAGCCCTCATCCGGCTCCCCACTGACAGCCCTCAGGAAGCGAGCAGCAGGGCCAGAGGCTCATCTGCCGAGTAGAGCTGCTGGGGCTCGGGGACTCAG
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Task1_train_14006
|
This sequence change occurs on Chromosome 10, altering SGPL1 (sphingosine-1-phosphate lyase 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Nephrotic syndrome 14
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CCATGGCACTCCAGTCTAGGTGAAAGATTGAGACCCCATCTCAAAAAAAAACAAAAAAGAAAAAAGTAGAATTTAGGTATTCCTACTTTTACAGTCAAAAGTCCACTGGTGTTTGCATAACAATGATGTTTTGACTAGTTATTGGACTAAAAGTAGGACACATGAAGCAGGTGACTAGGAATTTGGAAATATTATTGCTTAGGTCATTACTGGACCTTACGAAGAGATTGTTGCACTGGTGACTTGGACTTTGCTGGTCCCTCCCCGACTCTTCACAGCTGGCTTGACGACTCTTGTGACATTCTGAGGTTTTATGCTAAACCACAGGACATGCTGCTGATTTGCAGAGCTGACCTCAGCTGTAAGCACTTTGTCTTCTGCAGCGTAGAAATGTAGTGACCTACAAGTGTCCCATGCCCAAGTTGGGTGCATTATTTTTTGGTGATGGTCACATGTTTCATAAAGACTTCCTGAGTCAAAAAATGACTTTTCTCAGTTCATCTTCCATATAACTCCTGGCCACAGGGATTTTGTATCCAATGGTATTTTTGTTCTATGTGTGGATATTATTTTAGCAAAGTTCAGTGGTCACTTTCTCTGATTCCATCTTGTATTAAGCTACACTAAATATGAAAACGTAGAAAGTTTTACTTCTTATCAACAGATGCTAATGTATGACATTGAGTGAAACACTTTAATTCCTCAAGGGCTCAGTTTTCTCACCTGTAAATTGAAAAAACCTTTCAAAGATTGTATGAATCTTCAGAGATGGTAAGTCTAAGAAGTTGTCCAACTAGTTTAGTATTGTGGCTTTTTGTTTGTTTTGGAATGATTCATTCTCATATATTATTTTTTAAAAAAATAGCCAGGTGGCTATGACATGCCTGTGTTGGTCAAGGTTTACTGAGAGTCAAGTCAGGCATTAAGAAATGTGAAGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCTCTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGCCAGGAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTAGGTGGGCATGGTGGTGGGCGCCTGTAATCCGAGCTACTCGGGTAACTATGGCAGGAGAATCGCTTGAACCAGGAGGCAAAGGCTGCAGTGAGCCGAGATCATGCCATGGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATGGATTGAGGGTTTGTTAGGTGTCAGCCACTATGTCAGGTGCTAGGAATTTGTCATGAACAGACTGGTCCCTACTTTCATGAATTTATAGTCCAGTGAGGGAAATAAGATGAATAAAAAGACCCCTACGTCTTTTTGTTTGAACTCTGGTAAAGAAATGTGTTTATCAGAGGGGCTAGGCCAAACTTTAGGAAAACATTTCACTTCACTTAAAAAAAATTAGGATTTTTGTTTTATTTCAGATAAGGCAACAAACTTCCATCAAGTAGAAACTTCTGCTTTTCTCTGTCTTTCAAACTTGTCAAAATCAGCAGTTTACTTTGTTAAATCTGAATGTCTCTTTTTAGTGTATTGCACAGTTTACTAGAATTGTAATCACAATTTCACATTCTTTAACAGGTATTGAAAATTTAAATTAAAATTCTGATATTTTTGAATGGCATAAAATGCCCTATCTTATCTGAAAATTGAAAAATTAATACAGAAATGTAAATGGATTGTGAATAGGTGGGATCTGGCCAAGTGTGCATTTGTCTAGGCAGTGCTGAGTTTCTGCTCATTATTTAGTAGCTTTCATTCTTCACCTGAGCCAAAATTAGGCTTAGCCAATAAAGCCAAATTTTCCTTCTGGAAGACATGGCAGTGTCTGCCTTGCAGCATGCATCCAAGACCTTATCTGTTTCTGTATCAAACATTGTCAAGATCAGGGCATGAAGAGCCGGGGCATTCCTGACTCCCCCAACAGATGGCATCTCTTCTTTATTATAGGTGACTTCTGGGGGAACAGAAAGCATACTGATGGCCTGCAAAGCATATCGGGATCTGGCCTTTGAGAAGGGGATCAAAACTCCAGAAATGTATGTATGTGTGGCTGTTTTGTCCCCTTTTGGATTTGTCTGTCTGGAGTACAGCTTTATGAAACTAAAGCAGATAATCCATTTTCCTGCTGCTTCTCTTCCTCTGGTAATTCTGGTCCCCTTTCCCCCTGTCCTAGCCCCTCTGCCCTTATCCTTTTACATTCAGTAAAATTCTAAATGGATCAGCCAGTTATTTTTAAAGATCATTCCCATCCCGCCCCACCCCCAGATCATGCATAGTATATACTACAAGCAAAAATAAGATCCTTTTTCCAAAAGTGAGAGTTTGAGGACTACATCTTTGAATCCTGTGATATTTGCAAATTATTTGGAGCCTAAAGAAACCTCTCTAGGTACTTTAGTTCTGCTTACCTTAGAAAGTTACTTAATATTATAGGCTGCCTCAGGGTACTCTCTGGGAAAACTTTAGTGTGAGGGCTGTTTTCTGGGAGGAAGAATAAAAATATCTTTTTGAGATTTACCCACATTGCCTTCCTTGGACATAAATTTGATGTTTAGTTACATTATTTTTTCCTAGACTGTCCCCTTGTACAGTATGTTTATCCTACATCTTAATATTTTTACTGCAAGTATTACTTGACAATGGGGATTTATTGCATATGGTCTCATGCTGTGGTTCATATGTAGCATAAGAGAATAAACCAGGCTGCCATTCTTTCTTCATATGTCGATCTTTGGTGCTTGGTACTTCCTCAGTAGTAGAGATTTTTCTCCTTAGAGGGAACAGATTCGTTGTATGAATGGAGTAGTTGAGGAAAGTCTAAAGCAAATACCCGTGACCTCATTTTCTCTTTCAACACTATTTGAAATACTATTTCCAAATGTGTAGGAGAAATGGGGATTTTAGTTTCTTCAGGTTTGTTGTCTTTCAGAGTTGGAAGGGGCCACTGAGCTGATGCTTGGCCGCTGTGTGAACATTTCTGCTTGAACATGTGTTGTGCCGGGAAGCCTTCTTCTCATTCTCACTGAGGTGCCTGTCTTTGGTAGGCAACCGTTAGCCAGCTCTGCCTTGTGTTGCTCTCATCCAAAGTCTCTGTCCCCCAGCTTTCCGCCTGCCAGCCTAGCTTTATGCTTTGGATCCCTCACTGTGGGATCACTTCTGAGTCCTCTTCCTATTGCCAGAATGATTTCCTAAATAGGAGGGAAGTTTCTGCAGAAAATCAGTTGGCCTCTTTTTGGGTGTGCTTAAAAAGAAAAGTAGAGCAGTCTAAACACTTAAATTTTTAATTTGGGGAAAAATAATCAGAACTTACTCCCGGTAATTTAGATTAGCTGCTAATGGTGTTTTCTATTATTTTGGCCTGAGTTACATTATTCTCCTCTTCCCTGTCATTTAGTGTGGCTCCCCAAAGTGCCCATGCTGCATTTAACAAAGCAGCCAGTTACTTTGGGATGAAGATTGTGCGGGTCCCATTGACGAAGATGATGGAGGTGGATGTGCGGGTGAGTCCCTCTGGAGGGCCCACTGTCTGTGCTGGGCCCTGACAGCAGAAGGGCCCTCCTGTTGACTAGCCGTTTCCAGTCAGATGGGTCTGACTGCCTTTGATTGTGGCAGCCAGAATATGAAAAACTGCATTGATAGTGGTGATTGACTGCAGCTTCAGTCTTTTCATAGGTTCATGAATTCTGAAAGGGAGGTGATCTAGTCACTAACTTGGGACTTGAGAGACACTGGTTTTGCGGTCAGCGCCATCACTTTTTCTTTCTTTTCTCTATTTGTAAAATGAACATGGACTCACTTCCCCTAAGACTCTTACCATGGCCCGGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAAGCCGAGGAGGGAGGATTACTTGAACCCTTGAGCCCAGGAGTTTGCGACCAGTCTGAGCAACATAGTGAGACCCCATCTCTACACAAAATTTAAAAAAGTAGCTGGACATGGTGGCATGCACCTGTAGTCCTAGCTACTCGGGAGGCTGGGGTGGGAGGATCACTTGAGCCCCAGGAGGTT
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CCATGGCACTCCAGTCTAGGTGAAAGATTGAGACCCCATCTCAAAAAAAAACAAAAAAGAAAAAAGTAGAATTTAGGTATTCCTACTTTTACAGTCAAAAGTCCACTGGTGTTTGCATAACAATGATGTTTTGACTAGTTATTGGACTAAAAGTAGGACACATGAAGCAGGTGACTAGGAATTTGGAAATATTATTGCTTAGGTCATTACTGGACCTTACGAAGAGATTGTTGCACTGGTGACTTGGACTTTGCTGGTCCCTCCCCGACTCTTCACAGCTGGCTTGACGACTCTTGTGACATTCTGAGGTTTTATGCTAAACCACAGGACATGCTGCTGATTTGCAGAGCTGACCTCAGCTGTAAGCACTTTGTCTTCTGCAGCGTAGAAATGTAGTGACCTACAAGTGTCCCATGCCCAAGTTGGGTGCATTATTTTTTGGTGATGGTCACATGTTTCATAAAGACTTCCTGAGTCAAAAAATGACTTTTCTCAGTTCATCTTCCATATAACTCCTGGCCACAGGGATTTTGTATCCAATGGTATTTTTGTTCTATGTGTGGATATTATTTTAGCAAAGTTCAGTGGTCACTTTCTCTGATTCCATCTTGTATTAAGCTACACTAAATATGAAAACGTAGAAAGTTTTACTTCTTATCAACAGATGCTAATGTATGACATTGAGTGAAACACTTTAATTCCTCAAGGGCTCAGTTTTCTCACCTGTAAATTGAAAAAACCTTTCAAAGATTGTATGAATCTTCAGAGATGGTAAGTCTAAGAAGTTGTCCAACTAGTTTAGTATTGTGGCTTTTTGTTTGTTTTGGAATGATTCATTCTCATATATTATTTTTTAAAAAAATAGCCAGGTGGCTATGACATGCCTGTGTTGGTCAAGGTTTACTGAGAGTCAAGTCAGGCATTAAGAAATGTGAAGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCTCTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGCCAGGAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTAGGTGGGCATGGTGGTGGGCGCCTGTAATCCGAGCTACTCGGGTAACTATGGCAGGAGAATCGCTTGAACCAGGAGGCAAAGGCTGCAGTGAGCCGAGATCATGCCATGGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATGGATTGAGGGTTTGTTAGGTGTCAGCCACTATGTCAGGTGCTAGGAATTTGTCATGAACAGACTGGTCCCTACTTTCATGAATTTATAGTCCAGTGAGGGAAATAAGATGAATAAAAAGACCCCTACGTCTTTTTGTTTGAACTCTGGTAAAGAAATGTGTTTATCAGAGGGGCTAGGCCAAACTTTAGGAAAACATTTCACTTCACTTAAAAAAAATTAGGATTTTTGTTTTATTTCAGATAAGGCAACAAACTTCCATCAAGTAGAAACTTCTGCTTTTCTCTGTCTTTCAAACTTGTCAAAATCAGCAGTTTACTTTGTTAAATCTGAATGTCTCTTTTTAGTGTATTGCACAGTTTACTAGAATTGTAATCACAATTTCACATTCTTTAACAGGTATTGAAAATTTAAATTAAAATTCTGATATTTTTGAATGGCATAAAATGCCCTATCTTATCTGAAAATTGAAAAATTAATACAGAAATGTAAATGGATTGTGAATAGGTGGGATCTGGCCAAGTGTGCATTTGTCTAGGCAGTGCTGAGTTTCTGCTCATTATTTAGTAGCTTTCATTCTTCACCTGAGCCAAAATTAGGCTTAGCCAATAAAGCCAAATTTTCCTTCTGGAAGACATGGCAGTGTCTGCCTTGCAGCATGCATCCAAGACCTTATCTGTTTCTGTATCAAACATTGTCAAGATCAGGGCATGAAGAGCCGGGGCATTCCTGACTCCCCCAACAGATGGCATCTCTTCTTTATTATAGGTGACTTCTGGGGGAACAGAAAGCATACTGATGGCCTGCAAAGCATATTGGGATCTGGCCTTTGAGAAGGGGATCAAAACTCCAGAAATGTATGTATGTGTGGCTGTTTTGTCCCCTTTTGGATTTGTCTGTCTGGAGTACAGCTTTATGAAACTAAAGCAGATAATCCATTTTCCTGCTGCTTCTCTTCCTCTGGTAATTCTGGTCCCCTTTCCCCCTGTCCTAGCCCCTCTGCCCTTATCCTTTTACATTCAGTAAAATTCTAAATGGATCAGCCAGTTATTTTTAAAGATCATTCCCATCCCGCCCCACCCCCAGATCATGCATAGTATATACTACAAGCAAAAATAAGATCCTTTTTCCAAAAGTGAGAGTTTGAGGACTACATCTTTGAATCCTGTGATATTTGCAAATTATTTGGAGCCTAAAGAAACCTCTCTAGGTACTTTAGTTCTGCTTACCTTAGAAAGTTACTTAATATTATAGGCTGCCTCAGGGTACTCTCTGGGAAAACTTTAGTGTGAGGGCTGTTTTCTGGGAGGAAGAATAAAAATATCTTTTTGAGATTTACCCACATTGCCTTCCTTGGACATAAATTTGATGTTTAGTTACATTATTTTTTCCTAGACTGTCCCCTTGTACAGTATGTTTATCCTACATCTTAATATTTTTACTGCAAGTATTACTTGACAATGGGGATTTATTGCATATGGTCTCATGCTGTGGTTCATATGTAGCATAAGAGAATAAACCAGGCTGCCATTCTTTCTTCATATGTCGATCTTTGGTGCTTGGTACTTCCTCAGTAGTAGAGATTTTTCTCCTTAGAGGGAACAGATTCGTTGTATGAATGGAGTAGTTGAGGAAAGTCTAAAGCAAATACCCGTGACCTCATTTTCTCTTTCAACACTATTTGAAATACTATTTCCAAATGTGTAGGAGAAATGGGGATTTTAGTTTCTTCAGGTTTGTTGTCTTTCAGAGTTGGAAGGGGCCACTGAGCTGATGCTTGGCCGCTGTGTGAACATTTCTGCTTGAACATGTGTTGTGCCGGGAAGCCTTCTTCTCATTCTCACTGAGGTGCCTGTCTTTGGTAGGCAACCGTTAGCCAGCTCTGCCTTGTGTTGCTCTCATCCAAAGTCTCTGTCCCCCAGCTTTCCGCCTGCCAGCCTAGCTTTATGCTTTGGATCCCTCACTGTGGGATCACTTCTGAGTCCTCTTCCTATTGCCAGAATGATTTCCTAAATAGGAGGGAAGTTTCTGCAGAAAATCAGTTGGCCTCTTTTTGGGTGTGCTTAAAAAGAAAAGTAGAGCAGTCTAAACACTTAAATTTTTAATTTGGGGAAAAATAATCAGAACTTACTCCCGGTAATTTAGATTAGCTGCTAATGGTGTTTTCTATTATTTTGGCCTGAGTTACATTATTCTCCTCTTCCCTGTCATTTAGTGTGGCTCCCCAAAGTGCCCATGCTGCATTTAACAAAGCAGCCAGTTACTTTGGGATGAAGATTGTGCGGGTCCCATTGACGAAGATGATGGAGGTGGATGTGCGGGTGAGTCCCTCTGGAGGGCCCACTGTCTGTGCTGGGCCCTGACAGCAGAAGGGCCCTCCTGTTGACTAGCCGTTTCCAGTCAGATGGGTCTGACTGCCTTTGATTGTGGCAGCCAGAATATGAAAAACTGCATTGATAGTGGTGATTGACTGCAGCTTCAGTCTTTTCATAGGTTCATGAATTCTGAAAGGGAGGTGATCTAGTCACTAACTTGGGACTTGAGAGACACTGGTTTTGCGGTCAGCGCCATCACTTTTTCTTTCTTTTCTCTATTTGTAAAATGAACATGGACTCACTTCCCCTAAGACTCTTACCATGGCCCGGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAAGCCGAGGAGGGAGGATTACTTGAACCCTTGAGCCCAGGAGTTTGCGACCAGTCTGAGCAACATAGTGAGACCCCATCTCTACACAAAATTTAAAAAAGTAGCTGGACATGGTGGCATGCACCTGTAGTCCTAGCTACTCGGGAGGCTGGGGTGGGAGGATCACTTGAGCCCCAGGAGGTT
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Task1_train_14007
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A mutation on Chromosome 10 affecting SGPL1 (sphingosine-1-phosphate lyase 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Nephrotic syndrome 14
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CATGGCACTCCAGTCTAGGTGAAAGATTGAGACCCCATCTCAAAAAAAAACAAAAAAGAAAAAAGTAGAATTTAGGTATTCCTACTTTTACAGTCAAAAGTCCACTGGTGTTTGCATAACAATGATGTTTTGACTAGTTATTGGACTAAAAGTAGGACACATGAAGCAGGTGACTAGGAATTTGGAAATATTATTGCTTAGGTCATTACTGGACCTTACGAAGAGATTGTTGCACTGGTGACTTGGACTTTGCTGGTCCCTCCCCGACTCTTCACAGCTGGCTTGACGACTCTTGTGACATTCTGAGGTTTTATGCTAAACCACAGGACATGCTGCTGATTTGCAGAGCTGACCTCAGCTGTAAGCACTTTGTCTTCTGCAGCGTAGAAATGTAGTGACCTACAAGTGTCCCATGCCCAAGTTGGGTGCATTATTTTTTGGTGATGGTCACATGTTTCATAAAGACTTCCTGAGTCAAAAAATGACTTTTCTCAGTTCATCTTCCATATAACTCCTGGCCACAGGGATTTTGTATCCAATGGTATTTTTGTTCTATGTGTGGATATTATTTTAGCAAAGTTCAGTGGTCACTTTCTCTGATTCCATCTTGTATTAAGCTACACTAAATATGAAAACGTAGAAAGTTTTACTTCTTATCAACAGATGCTAATGTATGACATTGAGTGAAACACTTTAATTCCTCAAGGGCTCAGTTTTCTCACCTGTAAATTGAAAAAACCTTTCAAAGATTGTATGAATCTTCAGAGATGGTAAGTCTAAGAAGTTGTCCAACTAGTTTAGTATTGTGGCTTTTTGTTTGTTTTGGAATGATTCATTCTCATATATTATTTTTTAAAAAAATAGCCAGGTGGCTATGACATGCCTGTGTTGGTCAAGGTTTACTGAGAGTCAAGTCAGGCATTAAGAAATGTGAAGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCTCTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGCCAGGAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTAGGTGGGCATGGTGGTGGGCGCCTGTAATCCGAGCTACTCGGGTAACTATGGCAGGAGAATCGCTTGAACCAGGAGGCAAAGGCTGCAGTGAGCCGAGATCATGCCATGGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATGGATTGAGGGTTTGTTAGGTGTCAGCCACTATGTCAGGTGCTAGGAATTTGTCATGAACAGACTGGTCCCTACTTTCATGAATTTATAGTCCAGTGAGGGAAATAAGATGAATAAAAAGACCCCTACGTCTTTTTGTTTGAACTCTGGTAAAGAAATGTGTTTATCAGAGGGGCTAGGCCAAACTTTAGGAAAACATTTCACTTCACTTAAAAAAAATTAGGATTTTTGTTTTATTTCAGATAAGGCAACAAACTTCCATCAAGTAGAAACTTCTGCTTTTCTCTGTCTTTCAAACTTGTCAAAATCAGCAGTTTACTTTGTTAAATCTGAATGTCTCTTTTTAGTGTATTGCACAGTTTACTAGAATTGTAATCACAATTTCACATTCTTTAACAGGTATTGAAAATTTAAATTAAAATTCTGATATTTTTGAATGGCATAAAATGCCCTATCTTATCTGAAAATTGAAAAATTAATACAGAAATGTAAATGGATTGTGAATAGGTGGGATCTGGCCAAGTGTGCATTTGTCTAGGCAGTGCTGAGTTTCTGCTCATTATTTAGTAGCTTTCATTCTTCACCTGAGCCAAAATTAGGCTTAGCCAATAAAGCCAAATTTTCCTTCTGGAAGACATGGCAGTGTCTGCCTTGCAGCATGCATCCAAGACCTTATCTGTTTCTGTATCAAACATTGTCAAGATCAGGGCATGAAGAGCCGGGGCATTCCTGACTCCCCCAACAGATGGCATCTCTTCTTTATTATAGGTGACTTCTGGGGGAACAGAAAGCATACTGATGGCCTGCAAAGCATATCGGGATCTGGCCTTTGAGAAGGGGATCAAAACTCCAGAAATGTATGTATGTGTGGCTGTTTTGTCCCCTTTTGGATTTGTCTGTCTGGAGTACAGCTTTATGAAACTAAAGCAGATAATCCATTTTCCTGCTGCTTCTCTTCCTCTGGTAATTCTGGTCCCCTTTCCCCCTGTCCTAGCCCCTCTGCCCTTATCCTTTTACATTCAGTAAAATTCTAAATGGATCAGCCAGTTATTTTTAAAGATCATTCCCATCCCGCCCCACCCCCAGATCATGCATAGTATATACTACAAGCAAAAATAAGATCCTTTTTCCAAAAGTGAGAGTTTGAGGACTACATCTTTGAATCCTGTGATATTTGCAAATTATTTGGAGCCTAAAGAAACCTCTCTAGGTACTTTAGTTCTGCTTACCTTAGAAAGTTACTTAATATTATAGGCTGCCTCAGGGTACTCTCTGGGAAAACTTTAGTGTGAGGGCTGTTTTCTGGGAGGAAGAATAAAAATATCTTTTTGAGATTTACCCACATTGCCTTCCTTGGACATAAATTTGATGTTTAGTTACATTATTTTTTCCTAGACTGTCCCCTTGTACAGTATGTTTATCCTACATCTTAATATTTTTACTGCAAGTATTACTTGACAATGGGGATTTATTGCATATGGTCTCATGCTGTGGTTCATATGTAGCATAAGAGAATAAACCAGGCTGCCATTCTTTCTTCATATGTCGATCTTTGGTGCTTGGTACTTCCTCAGTAGTAGAGATTTTTCTCCTTAGAGGGAACAGATTCGTTGTATGAATGGAGTAGTTGAGGAAAGTCTAAAGCAAATACCCGTGACCTCATTTTCTCTTTCAACACTATTTGAAATACTATTTCCAAATGTGTAGGAGAAATGGGGATTTTAGTTTCTTCAGGTTTGTTGTCTTTCAGAGTTGGAAGGGGCCACTGAGCTGATGCTTGGCCGCTGTGTGAACATTTCTGCTTGAACATGTGTTGTGCCGGGAAGCCTTCTTCTCATTCTCACTGAGGTGCCTGTCTTTGGTAGGCAACCGTTAGCCAGCTCTGCCTTGTGTTGCTCTCATCCAAAGTCTCTGTCCCCCAGCTTTCCGCCTGCCAGCCTAGCTTTATGCTTTGGATCCCTCACTGTGGGATCACTTCTGAGTCCTCTTCCTATTGCCAGAATGATTTCCTAAATAGGAGGGAAGTTTCTGCAGAAAATCAGTTGGCCTCTTTTTGGGTGTGCTTAAAAAGAAAAGTAGAGCAGTCTAAACACTTAAATTTTTAATTTGGGGAAAAATAATCAGAACTTACTCCCGGTAATTTAGATTAGCTGCTAATGGTGTTTTCTATTATTTTGGCCTGAGTTACATTATTCTCCTCTTCCCTGTCATTTAGTGTGGCTCCCCAAAGTGCCCATGCTGCATTTAACAAAGCAGCCAGTTACTTTGGGATGAAGATTGTGCGGGTCCCATTGACGAAGATGATGGAGGTGGATGTGCGGGTGAGTCCCTCTGGAGGGCCCACTGTCTGTGCTGGGCCCTGACAGCAGAAGGGCCCTCCTGTTGACTAGCCGTTTCCAGTCAGATGGGTCTGACTGCCTTTGATTGTGGCAGCCAGAATATGAAAAACTGCATTGATAGTGGTGATTGACTGCAGCTTCAGTCTTTTCATAGGTTCATGAATTCTGAAAGGGAGGTGATCTAGTCACTAACTTGGGACTTGAGAGACACTGGTTTTGCGGTCAGCGCCATCACTTTTTCTTTCTTTTCTCTATTTGTAAAATGAACATGGACTCACTTCCCCTAAGACTCTTACCATGGCCCGGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAAGCCGAGGAGGGAGGATTACTTGAACCCTTGAGCCCAGGAGTTTGCGACCAGTCTGAGCAACATAGTGAGACCCCATCTCTACACAAAATTTAAAAAAGTAGCTGGACATGGTGGCATGCACCTGTAGTCCTAGCTACTCGGGAGGCTGGGGTGGGAGGATCACTTGAGCCCCAGGAGGTTG
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CATGGCACTCCAGTCTAGGTGAAAGATTGAGACCCCATCTCAAAAAAAAACAAAAAAGAAAAAAGTAGAATTTAGGTATTCCTACTTTTACAGTCAAAAGTCCACTGGTGTTTGCATAACAATGATGTTTTGACTAGTTATTGGACTAAAAGTAGGACACATGAAGCAGGTGACTAGGAATTTGGAAATATTATTGCTTAGGTCATTACTGGACCTTACGAAGAGATTGTTGCACTGGTGACTTGGACTTTGCTGGTCCCTCCCCGACTCTTCACAGCTGGCTTGACGACTCTTGTGACATTCTGAGGTTTTATGCTAAACCACAGGACATGCTGCTGATTTGCAGAGCTGACCTCAGCTGTAAGCACTTTGTCTTCTGCAGCGTAGAAATGTAGTGACCTACAAGTGTCCCATGCCCAAGTTGGGTGCATTATTTTTTGGTGATGGTCACATGTTTCATAAAGACTTCCTGAGTCAAAAAATGACTTTTCTCAGTTCATCTTCCATATAACTCCTGGCCACAGGGATTTTGTATCCAATGGTATTTTTGTTCTATGTGTGGATATTATTTTAGCAAAGTTCAGTGGTCACTTTCTCTGATTCCATCTTGTATTAAGCTACACTAAATATGAAAACGTAGAAAGTTTTACTTCTTATCAACAGATGCTAATGTATGACATTGAGTGAAACACTTTAATTCCTCAAGGGCTCAGTTTTCTCACCTGTAAATTGAAAAAACCTTTCAAAGATTGTATGAATCTTCAGAGATGGTAAGTCTAAGAAGTTGTCCAACTAGTTTAGTATTGTGGCTTTTTGTTTGTTTTGGAATGATTCATTCTCATATATTATTTTTTAAAAAAATAGCCAGGTGGCTATGACATGCCTGTGTTGGTCAAGGTTTACTGAGAGTCAAGTCAGGCATTAAGAAATGTGAAGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCTCTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGCCAGGAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTAGGTGGGCATGGTGGTGGGCGCCTGTAATCCGAGCTACTCGGGTAACTATGGCAGGAGAATCGCTTGAACCAGGAGGCAAAGGCTGCAGTGAGCCGAGATCATGCCATGGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATGGATTGAGGGTTTGTTAGGTGTCAGCCACTATGTCAGGTGCTAGGAATTTGTCATGAACAGACTGGTCCCTACTTTCATGAATTTATAGTCCAGTGAGGGAAATAAGATGAATAAAAAGACCCCTACGTCTTTTTGTTTGAACTCTGGTAAAGAAATGTGTTTATCAGAGGGGCTAGGCCAAACTTTAGGAAAACATTTCACTTCACTTAAAAAAAATTAGGATTTTTGTTTTATTTCAGATAAGGCAACAAACTTCCATCAAGTAGAAACTTCTGCTTTTCTCTGTCTTTCAAACTTGTCAAAATCAGCAGTTTACTTTGTTAAATCTGAATGTCTCTTTTTAGTGTATTGCACAGTTTACTAGAATTGTAATCACAATTTCACATTCTTTAACAGGTATTGAAAATTTAAATTAAAATTCTGATATTTTTGAATGGCATAAAATGCCCTATCTTATCTGAAAATTGAAAAATTAATACAGAAATGTAAATGGATTGTGAATAGGTGGGATCTGGCCAAGTGTGCATTTGTCTAGGCAGTGCTGAGTTTCTGCTCATTATTTAGTAGCTTTCATTCTTCACCTGAGCCAAAATTAGGCTTAGCCAATAAAGCCAAATTTTCCTTCTGGAAGACATGGCAGTGTCTGCCTTGCAGCATGCATCCAAGACCTTATCTGTTTCTGTATCAAACATTGTCAAGATCAGGGCATGAAGAGCCGGGGCATTCCTGACTCCCCCAACAGATGGCATCTCTTCTTTATTATAGGTGACTTCTGGGGGAACAGAAAGCATACTGATGGCCTGCAAAGCATATCAGGATCTGGCCTTTGAGAAGGGGATCAAAACTCCAGAAATGTATGTATGTGTGGCTGTTTTGTCCCCTTTTGGATTTGTCTGTCTGGAGTACAGCTTTATGAAACTAAAGCAGATAATCCATTTTCCTGCTGCTTCTCTTCCTCTGGTAATTCTGGTCCCCTTTCCCCCTGTCCTAGCCCCTCTGCCCTTATCCTTTTACATTCAGTAAAATTCTAAATGGATCAGCCAGTTATTTTTAAAGATCATTCCCATCCCGCCCCACCCCCAGATCATGCATAGTATATACTACAAGCAAAAATAAGATCCTTTTTCCAAAAGTGAGAGTTTGAGGACTACATCTTTGAATCCTGTGATATTTGCAAATTATTTGGAGCCTAAAGAAACCTCTCTAGGTACTTTAGTTCTGCTTACCTTAGAAAGTTACTTAATATTATAGGCTGCCTCAGGGTACTCTCTGGGAAAACTTTAGTGTGAGGGCTGTTTTCTGGGAGGAAGAATAAAAATATCTTTTTGAGATTTACCCACATTGCCTTCCTTGGACATAAATTTGATGTTTAGTTACATTATTTTTTCCTAGACTGTCCCCTTGTACAGTATGTTTATCCTACATCTTAATATTTTTACTGCAAGTATTACTTGACAATGGGGATTTATTGCATATGGTCTCATGCTGTGGTTCATATGTAGCATAAGAGAATAAACCAGGCTGCCATTCTTTCTTCATATGTCGATCTTTGGTGCTTGGTACTTCCTCAGTAGTAGAGATTTTTCTCCTTAGAGGGAACAGATTCGTTGTATGAATGGAGTAGTTGAGGAAAGTCTAAAGCAAATACCCGTGACCTCATTTTCTCTTTCAACACTATTTGAAATACTATTTCCAAATGTGTAGGAGAAATGGGGATTTTAGTTTCTTCAGGTTTGTTGTCTTTCAGAGTTGGAAGGGGCCACTGAGCTGATGCTTGGCCGCTGTGTGAACATTTCTGCTTGAACATGTGTTGTGCCGGGAAGCCTTCTTCTCATTCTCACTGAGGTGCCTGTCTTTGGTAGGCAACCGTTAGCCAGCTCTGCCTTGTGTTGCTCTCATCCAAAGTCTCTGTCCCCCAGCTTTCCGCCTGCCAGCCTAGCTTTATGCTTTGGATCCCTCACTGTGGGATCACTTCTGAGTCCTCTTCCTATTGCCAGAATGATTTCCTAAATAGGAGGGAAGTTTCTGCAGAAAATCAGTTGGCCTCTTTTTGGGTGTGCTTAAAAAGAAAAGTAGAGCAGTCTAAACACTTAAATTTTTAATTTGGGGAAAAATAATCAGAACTTACTCCCGGTAATTTAGATTAGCTGCTAATGGTGTTTTCTATTATTTTGGCCTGAGTTACATTATTCTCCTCTTCCCTGTCATTTAGTGTGGCTCCCCAAAGTGCCCATGCTGCATTTAACAAAGCAGCCAGTTACTTTGGGATGAAGATTGTGCGGGTCCCATTGACGAAGATGATGGAGGTGGATGTGCGGGTGAGTCCCTCTGGAGGGCCCACTGTCTGTGCTGGGCCCTGACAGCAGAAGGGCCCTCCTGTTGACTAGCCGTTTCCAGTCAGATGGGTCTGACTGCCTTTGATTGTGGCAGCCAGAATATGAAAAACTGCATTGATAGTGGTGATTGACTGCAGCTTCAGTCTTTTCATAGGTTCATGAATTCTGAAAGGGAGGTGATCTAGTCACTAACTTGGGACTTGAGAGACACTGGTTTTGCGGTCAGCGCCATCACTTTTTCTTTCTTTTCTCTATTTGTAAAATGAACATGGACTCACTTCCCCTAAGACTCTTACCATGGCCCGGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAAGCCGAGGAGGGAGGATTACTTGAACCCTTGAGCCCAGGAGTTTGCGACCAGTCTGAGCAACATAGTGAGACCCCATCTCTACACAAAATTTAAAAAAGTAGCTGGACATGGTGGCATGCACCTGTAGTCCTAGCTACTCGGGAGGCTGGGGTGGGAGGATCACTTGAGCCCCAGGAGGTTG
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Task1_train_14008
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This gene mutation involves SLC29A3 (solute carrier family 29 member 3) on Chromosome 10. Is it associated with any clinical condition, or is it benign?
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Pathogenic; H syndrome
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TGCAATGTCCATCTCCCGAGTTTAGGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATTGGGTCAGGCTGGTCTTGAACTCCTAACCTCAAGTGACCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGGATGACAAGAACCTGTCTTCTACCGAAGGAGACACATGATAAACAAGTAAACCAATGCAATTACTGTAGATTGTGGTTAGTTCTTTTGAAGGAACTAAACAGGTGCCTCTGGTAGAGATGAACAGGGCAAGTTACTTCAGTTAGGGTGGGTAAATGGTGCTGGGCAGAGTTAAACTGGTAGTACCTATTAGGAGAGCAGTTTATCAGTAGCTATCAAAATGTTAAAGGTATAAACCTTTTAATCCAGTAATTTCCTCTTCTAGAAATCTGCCCTACCAAAATACTAGTATACATGTGCAAGGATTTATGTGTAGGGATATTCATTGCAACATTGTCTGTAGTAATGAAAAGTCGAGGCAACCTAAGTGTCCATCAGTAGAGGAGCAGTTAAATTGTACATCCATCCGGTGAACCATCATAGAGTAACATAAGGGAGACATAGGCCACATGTTCCTGTGTAGAAGGATGGCCACAAGATACTGTTCTTTATGCAATTTTATGTATTCATTTATGTTTCACAGTTATGCATGATTTAGGCAGTTAGTATAAGGCATTTATATATATTATTTACAGATATTGTATTTAGGCATTACACTGTTGCAGAAAGTTTTACAATATGTATGGCTTGACCCCACTCTTGCTTAAGAAATGTAACTGTGTGAGTGTTGTTTGTGTGTGCATGGAACAGTATGTACCAGATTGGTTTTTCTGTTTTGTTTTGTTTTGTTTTGTTTTGTTGAGACAGGGTCTCGCTCTGTTATCCAGGCTGGAGTGTGGTAGTGTGATCATAGCTCACTATATTGAACAACTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTATGGGCATATACCACCACACCTGGCTAATTTCTTTTATTTTACAATTATTATTATCGTCATTTTTGTAGAGACAGAGTTTCACTTGGTTGTGCAGGCTGATGTTGAACTCTGGGGCTCAAGCAATCCTTCTGCCTCTATCTCCCAAAGTATTGGGATTATAGGCGTGAGCCATCATGCCCGGCCTAGAATGTTAACAGCCAGTACCACTAAGGAGTGAAATCAGAAGTGGGAAGAGGTCAGAGTCCCCTTTCTATTAATACTATATCATTTATTTTCTGTATTATTTGGGTTTGTTGTATCAAGCTTGCATTCCTTTTATCATTTTAGAAATCTGCATTTTTAATACTATTTTACCTCTACTCTCCTAAAATATAACAAAAACAGGTGAGCCAGGACAGGGGCCCAGACTCACCATGCAGTGGTCAGTCCTGGTTTCCTCTGTCCCTGCTCATGGCATGGCCACCGCGCTGGCAGGCAGGCCAGGGACAACGCAGGCCTTCCCCTGGCCACCCCGTGACAGCATCTGTCATCTCAGGGAACGCTGGAGCTGTGGGCATACGGGGCTTGGGCTCTCCATGCTGGGCTGGAAGGTTCTGTTCTGAGTGCCCACCCCTGGCTGTGCTGACTCAGATCCCAAGCAACCTGCTTGATGGTGGCCCTGTCTCCTCCCTGCAGGTACTACATGAGGCCTGTTCTTGCGGCCCATGTGTTTTCTGGTGAAGAGGAGCTTCCCCAGGACTCCCTCAGTGCCCCTTCGGTGGCCTCCAGATTCATTGATTCCCACACACCCCCTCTCCGCCCCATCCTGAAGAAGACGGCCAGCCTGGGCTTCTGTGTCACCTACGTCTTCTTCATCACCAGCCTCATCTACCCCGCCATCTGCACCAACATCGAGTCCCTCAACAAGGGTTCGGGCTCACTGTGGACCACCAAGTTTTTCATCCCCCTCACTACCTTCCTCCTGTACAACTTTGCTGACCTATGTGGCCGGCAGCTCACCGCCTGGATCCAGGTGCCAGGGCCCAATAGCAAGGCGCTCCCAGGGTTCGTGCTCCTCCGGACCTGCCTCATCCCCCTCTTCGTGCTCTGTAACTACCAGCCCCGCGTCCACCTGAAGACTGTGGTCTTCCAGTCCGATGTGTACCCCGCACTCCTCAGCTCCCTGCTGGGGCTCAGCAACGGCTACCTCAGCACCCTGGCCCTCCTCTACGGGCCTAAGATTGTGCCCAGGGAGCTGGCTGAGGCCACGGGAGTGGTGATGTCCTTTTATGTGTGCTTGGGCTTAACACTGGGCTCAGCCTGCTCTACCCTCCTGGTGCACCTCATCTAGAAGGGAGGACACAAGGACATTGGTGCTTCAGAGCCTTTGAAGATGAGAAGAGAGTGCAGGAGGGCTGGGGGCCATGGAGGAAAGGCCTAAAGTTTCACTTGGGGACAGAGAGCAGAGCACACTCGGGCCTCATCCCTCCCAAGATGCCAGTGAGCCACGTCCATGCCCATTCCGTGCAAGGCAGATATTCCAGTCATATTAACAGAACACTCCTGAGACAGTTGAAGAAGAAATAGCACAAATCAGGGGTACTCCCTTCACAGCTGATGGTTAACATTCCACCTTCTTTCTAGCCCTTCAAAGATGCTGCCAGTGTTCGCCCTAGAGTTATTACAAAGCCAGTGCCAAAACCCAGCCATGGGCTCTTTGCAACCTCCCAGCTGCGCTCATTCCAGCTGACAGCGAGATGCAAGCAAATGCTCAGCTCTCCTTACCCTGAAGGGGTCTCCCTGGAATGGAAGTCCCCTGGCATGGTCAGTCCTCAGGCCCAAGACTCAAGTGTGCACAGACCCCTGTGTTCTGTGGGTGAACAACTGCCCACTAACCAGACTGGAAAACCCAGAAAGATGGGCCTTCCATGAATGCTTCATTCCAGAGGGACCAGAGGGCCTCCCTGTGCAAGGGATCAAGCATGTCTGGCCTGGGTTTTCAAAAAAAGAGGGATCCTCATGACCTGGTGGTCTATGGCCTGGGTCAAGATGAGGGTCTTTCAGTGTTCCTGTTTACAACATGTCAAAGCCATTGGTTCAAGGGCGTAATAAATACTTGCGTATTCAATGTAAGCCTCATTGATGTCTCTGTTAGAGTCTTAACAAGCAATGGCACACTCAGATTAGGCAATTTGAGGATTTTTTAAAATTTATTATTATTATTGAGACAAGATATTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCCAGTGATCTTCCAGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCATGCCTCGCTAATTTCTGTATTTTTAAAATTTTTCATAGAGATGGGGTATTACTATGTTGCTCAGCCTGGTCTCAAATTCCTGAGCTCAAGCGATCCTCCCACCTCAGCTTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCTAATTTGAGGATTTTTTTTTCTTTTTTTCCTTTTTCTTTTCTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCAACCTTGAGGATGTTTTAAGAGCAGGTGTAGGAACCCCAGGGGGTTGTGCATTCTATCTAAAAACTAGTAATAGGCCATTCCAGCTCAGGCCTGATGTGGGGAGGGGAGGGAGTCCTAGAACCTAGGGAGTGACTTTGTCTGGGGATGGGATGGCCAGCCTGCTGTAACCCTGCAGGAGGAAGCTGAAGGAATAAATTCCCTCCATTCATCCTCTGATTTCCATGCCCCTTGGACTAAAGCCCAGCCAGCAGCAGGTGGAGAGGGTAGAGAGTGGCCTGGAGAAGCAGGAAGGTGTCTGGCCCAGAGTCTCATGCATTGCAGGACCAGCTAGCACCTTGGCTTTCACAGGTTTCTTTTTTGTGAACATCACTGAAGCTCTGAAGCTTTGAGCAGCAGGATTAGGTGTTGCTTTGTTCTGGTTTGTTG
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TGCAATGTCCATCTCCCGAGTTTAGGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATTGGGTCAGGCTGGTCTTGAACTCCTAACCTCAAGTGACCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGGATGACAAGAACCTGTCTTCTACCGAAGGAGACACATGATAAACAAGTAAACCAATGCAATTACTGTAGATTGTGGTTAGTTCTTTTGAAGGAACTAAACAGGTGCCTCTGGTAGAGATGAACAGGGCAAGTTACTTCAGTTAGGGTGGGTAAATGGTGCTGGGCAGAGTTAAACTGGTAGTACCTATTAGGAGAGCAGTTTATCAGTAGCTATCAAAATGTTAAAGGTATAAACCTTTTAATCCAGTAATTTCCTCTTCTAGAAATCTGCCCTACCAAAATACTAGTATACATGTGCAAGGATTTATGTGTAGGGATATTCATTGCAACATTGTCTGTAGTAATGAAAAGTCGAGGCAACCTAAGTGTCCATCAGTAGAGGAGCAGTTAAATTGTACATCCATCCGGTGAACCATCATAGAGTAACATAAGGGAGACATAGGCCACATGTTCCTGTGTAGAAGGATGGCCACAAGATACTGTTCTTTATGCAATTTTATGTATTCATTTATGTTTCACAGTTATGCATGATTTAGGCAGTTAGTATAAGGCATTTATATATATTATTTACAGATATTGTATTTAGGCATTACACTGTTGCAGAAAGTTTTACAATATGTATGGCTTGACCCCACTCTTGCTTAAGAAATGTAACTGTGTGAGTGTTGTTTGTGTGTGCATGGAACAGTATGTACCAGATTGGTTTTTCTGTTTTGTTTTGTTTTGTTTTGTTTTGTTGAGACAGGGTCTCGCTCTGTTATCCAGGCTGGAGTGTGGTAGTGTGATCATAGCTCACTATATTGAACAACTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTATGGGCATATACCACCACACCTGGCTAATTTCTTTTATTTTACAATTATTATTATCGTCATTTTTGTAGAGACAGAGTTTCACTTGGTTGTGCAGGCTGATGTTGAACTCTGGGGCTCAAGCAATCCTTCTGCCTCTATCTCCCAAAGTATTGGGATTATAGGCGTGAGCCATCATGCCCGGCCTAGAATGTTAACAGCCAGTACCACTAAGGAGTGAAATCAGAAGTGGGAAGAGGTCAGAGTCCCCTTTCTATTAATACTATATCATTTATTTTCTGTATTATTTGGGTTTGTTGTATCAAGCTTGCATTCCTTTTATCATTTTAGAAATCTGCATTTTTAATACTATTTTACCTCTACTCTCCTAAAATATAACAAAAACAGGTGAGCCAGGACAGGGGCCCAGACTCACCATGCAGTGGTCAGTCCTGGTTTCCTCTGTCCCTGCTCATGGCATGGCCACCGCGCTGGCAGGCAGGCCAGGGACAACGCAGGCCTTCCCCTGGCCACCCCGTGACAGCATCTGTCATCTCAGGGAACGCTGGAGCTGTGGGCATACGGGGCTTGGGCTCTCCATGCTGGGCTGGAAGGTTCTGTTCTGAGTGCCCACCCCTGGCTGTGCTGACTCAGATCCCAAGCAACCTGCTTGATGGTGGCCCTGTCTCCTCCCTGCAGGTACTACATGAGGCCTGTTCTTGCGGCCCATGTGTTTTCTGGTGAAGAGGAGCTTCCCCAGGACTCCCTCAGTGCCCCTTCGGTGGCCTCCAGATTCATTGATTCCCACACACCCCCTCTCCGCCCCATCCTGAAGAAGACGGCCAGCCTGGGCTTCTGTGTCACCTACGTCTTCTTCATCACCAGCCTCATCTACCCCGCCATCTGCACCAACATCGAGTCCCTCAACAAGGGTTCGGGCTCACTGTGGACCACCAAGTTTTTCATCCCCCTCACTACCTTCCTCCTGTACAACTTTGCTGACCTATGTGGCCAGCAGCTCACCGCCTGGATCCAGGTGCCAGGGCCCAATAGCAAGGCGCTCCCAGGGTTCGTGCTCCTCCGGACCTGCCTCATCCCCCTCTTCGTGCTCTGTAACTACCAGCCCCGCGTCCACCTGAAGACTGTGGTCTTCCAGTCCGATGTGTACCCCGCACTCCTCAGCTCCCTGCTGGGGCTCAGCAACGGCTACCTCAGCACCCTGGCCCTCCTCTACGGGCCTAAGATTGTGCCCAGGGAGCTGGCTGAGGCCACGGGAGTGGTGATGTCCTTTTATGTGTGCTTGGGCTTAACACTGGGCTCAGCCTGCTCTACCCTCCTGGTGCACCTCATCTAGAAGGGAGGACACAAGGACATTGGTGCTTCAGAGCCTTTGAAGATGAGAAGAGAGTGCAGGAGGGCTGGGGGCCATGGAGGAAAGGCCTAAAGTTTCACTTGGGGACAGAGAGCAGAGCACACTCGGGCCTCATCCCTCCCAAGATGCCAGTGAGCCACGTCCATGCCCATTCCGTGCAAGGCAGATATTCCAGTCATATTAACAGAACACTCCTGAGACAGTTGAAGAAGAAATAGCACAAATCAGGGGTACTCCCTTCACAGCTGATGGTTAACATTCCACCTTCTTTCTAGCCCTTCAAAGATGCTGCCAGTGTTCGCCCTAGAGTTATTACAAAGCCAGTGCCAAAACCCAGCCATGGGCTCTTTGCAACCTCCCAGCTGCGCTCATTCCAGCTGACAGCGAGATGCAAGCAAATGCTCAGCTCTCCTTACCCTGAAGGGGTCTCCCTGGAATGGAAGTCCCCTGGCATGGTCAGTCCTCAGGCCCAAGACTCAAGTGTGCACAGACCCCTGTGTTCTGTGGGTGAACAACTGCCCACTAACCAGACTGGAAAACCCAGAAAGATGGGCCTTCCATGAATGCTTCATTCCAGAGGGACCAGAGGGCCTCCCTGTGCAAGGGATCAAGCATGTCTGGCCTGGGTTTTCAAAAAAAGAGGGATCCTCATGACCTGGTGGTCTATGGCCTGGGTCAAGATGAGGGTCTTTCAGTGTTCCTGTTTACAACATGTCAAAGCCATTGGTTCAAGGGCGTAATAAATACTTGCGTATTCAATGTAAGCCTCATTGATGTCTCTGTTAGAGTCTTAACAAGCAATGGCACACTCAGATTAGGCAATTTGAGGATTTTTTAAAATTTATTATTATTATTGAGACAAGATATTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCCAGTGATCTTCCAGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCATGCCTCGCTAATTTCTGTATTTTTAAAATTTTTCATAGAGATGGGGTATTACTATGTTGCTCAGCCTGGTCTCAAATTCCTGAGCTCAAGCGATCCTCCCACCTCAGCTTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCTAATTTGAGGATTTTTTTTTCTTTTTTTCCTTTTTCTTTTCTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCAACCTTGAGGATGTTTTAAGAGCAGGTGTAGGAACCCCAGGGGGTTGTGCATTCTATCTAAAAACTAGTAATAGGCCATTCCAGCTCAGGCCTGATGTGGGGAGGGGAGGGAGTCCTAGAACCTAGGGAGTGACTTTGTCTGGGGATGGGATGGCCAGCCTGCTGTAACCCTGCAGGAGGAAGCTGAAGGAATAAATTCCCTCCATTCATCCTCTGATTTCCATGCCCCTTGGACTAAAGCCCAGCCAGCAGCAGGTGGAGAGGGTAGAGAGTGGCCTGGAGAAGCAGGAAGGTGTCTGGCCCAGAGTCTCATGCATTGCAGGACCAGCTAGCACCTTGGCTTTCACAGGTTTCTTTTTTGTGAACATCACTGAAGCTCTGAAGCTTTGAGCAGCAGGATTAGGTGTTGCTTTGTTCTGGTTTGTTG
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Task1_train_14009
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A variant has been detected on Chromosome 10 in SLC29A3 (solute carrier family 29 member 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; H syndrome
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GGGATTACAAGGATGACAAGAACCTGTCTTCTACCGAAGGAGACACATGATAAACAAGTAAACCAATGCAATTACTGTAGATTGTGGTTAGTTCTTTTGAAGGAACTAAACAGGTGCCTCTGGTAGAGATGAACAGGGCAAGTTACTTCAGTTAGGGTGGGTAAATGGTGCTGGGCAGAGTTAAACTGGTAGTACCTATTAGGAGAGCAGTTTATCAGTAGCTATCAAAATGTTAAAGGTATAAACCTTTTAATCCAGTAATTTCCTCTTCTAGAAATCTGCCCTACCAAAATACTAGTATACATGTGCAAGGATTTATGTGTAGGGATATTCATTGCAACATTGTCTGTAGTAATGAAAAGTCGAGGCAACCTAAGTGTCCATCAGTAGAGGAGCAGTTAAATTGTACATCCATCCGGTGAACCATCATAGAGTAACATAAGGGAGACATAGGCCACATGTTCCTGTGTAGAAGGATGGCCACAAGATACTGTTCTTTATGCAATTTTATGTATTCATTTATGTTTCACAGTTATGCATGATTTAGGCAGTTAGTATAAGGCATTTATATATATTATTTACAGATATTGTATTTAGGCATTACACTGTTGCAGAAAGTTTTACAATATGTATGGCTTGACCCCACTCTTGCTTAAGAAATGTAACTGTGTGAGTGTTGTTTGTGTGTGCATGGAACAGTATGTACCAGATTGGTTTTTCTGTTTTGTTTTGTTTTGTTTTGTTTTGTTGAGACAGGGTCTCGCTCTGTTATCCAGGCTGGAGTGTGGTAGTGTGATCATAGCTCACTATATTGAACAACTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTATGGGCATATACCACCACACCTGGCTAATTTCTTTTATTTTACAATTATTATTATCGTCATTTTTGTAGAGACAGAGTTTCACTTGGTTGTGCAGGCTGATGTTGAACTCTGGGGCTCAAGCAATCCTTCTGCCTCTATCTCCCAAAGTATTGGGATTATAGGCGTGAGCCATCATGCCCGGCCTAGAATGTTAACAGCCAGTACCACTAAGGAGTGAAATCAGAAGTGGGAAGAGGTCAGAGTCCCCTTTCTATTAATACTATATCATTTATTTTCTGTATTATTTGGGTTTGTTGTATCAAGCTTGCATTCCTTTTATCATTTTAGAAATCTGCATTTTTAATACTATTTTACCTCTACTCTCCTAAAATATAACAAAAACAGGTGAGCCAGGACAGGGGCCCAGACTCACCATGCAGTGGTCAGTCCTGGTTTCCTCTGTCCCTGCTCATGGCATGGCCACCGCGCTGGCAGGCAGGCCAGGGACAACGCAGGCCTTCCCCTGGCCACCCCGTGACAGCATCTGTCATCTCAGGGAACGCTGGAGCTGTGGGCATACGGGGCTTGGGCTCTCCATGCTGGGCTGGAAGGTTCTGTTCTGAGTGCCCACCCCTGGCTGTGCTGACTCAGATCCCAAGCAACCTGCTTGATGGTGGCCCTGTCTCCTCCCTGCAGGTACTACATGAGGCCTGTTCTTGCGGCCCATGTGTTTTCTGGTGAAGAGGAGCTTCCCCAGGACTCCCTCAGTGCCCCTTCGGTGGCCTCCAGATTCATTGATTCCCACACACCCCCTCTCCGCCCCATCCTGAAGAAGACGGCCAGCCTGGGCTTCTGTGTCACCTACGTCTTCTTCATCACCAGCCTCATCTACCCCGCCATCTGCACCAACATCGAGTCCCTCAACAAGGGTTCGGGCTCACTGTGGACCACCAAGTTTTTCATCCCCCTCACTACCTTCCTCCTGTACAACTTTGCTGACCTATGTGGCCGGCAGCTCACCGCCTGGATCCAGGTGCCAGGGCCCAATAGCAAGGCGCTCCCAGGGTTCGTGCTCCTCCGGACCTGCCTCATCCCCCTCTTCGTGCTCTGTAACTACCAGCCCCGCGTCCACCTGAAGACTGTGGTCTTCCAGTCCGATGTGTACCCCGCACTCCTCAGCTCCCTGCTGGGGCTCAGCAACGGCTACCTCAGCACCCTGGCCCTCCTCTACGGGCCTAAGATTGTGCCCAGGGAGCTGGCTGAGGCCACGGGAGTGGTGATGTCCTTTTATGTGTGCTTGGGCTTAACACTGGGCTCAGCCTGCTCTACCCTCCTGGTGCACCTCATCTAGAAGGGAGGACACAAGGACATTGGTGCTTCAGAGCCTTTGAAGATGAGAAGAGAGTGCAGGAGGGCTGGGGGCCATGGAGGAAAGGCCTAAAGTTTCACTTGGGGACAGAGAGCAGAGCACACTCGGGCCTCATCCCTCCCAAGATGCCAGTGAGCCACGTCCATGCCCATTCCGTGCAAGGCAGATATTCCAGTCATATTAACAGAACACTCCTGAGACAGTTGAAGAAGAAATAGCACAAATCAGGGGTACTCCCTTCACAGCTGATGGTTAACATTCCACCTTCTTTCTAGCCCTTCAAAGATGCTGCCAGTGTTCGCCCTAGAGTTATTACAAAGCCAGTGCCAAAACCCAGCCATGGGCTCTTTGCAACCTCCCAGCTGCGCTCATTCCAGCTGACAGCGAGATGCAAGCAAATGCTCAGCTCTCCTTACCCTGAAGGGGTCTCCCTGGAATGGAAGTCCCCTGGCATGGTCAGTCCTCAGGCCCAAGACTCAAGTGTGCACAGACCCCTGTGTTCTGTGGGTGAACAACTGCCCACTAACCAGACTGGAAAACCCAGAAAGATGGGCCTTCCATGAATGCTTCATTCCAGAGGGACCAGAGGGCCTCCCTGTGCAAGGGATCAAGCATGTCTGGCCTGGGTTTTCAAAAAAAGAGGGATCCTCATGACCTGGTGGTCTATGGCCTGGGTCAAGATGAGGGTCTTTCAGTGTTCCTGTTTACAACATGTCAAAGCCATTGGTTCAAGGGCGTAATAAATACTTGCGTATTCAATGTAAGCCTCATTGATGTCTCTGTTAGAGTCTTAACAAGCAATGGCACACTCAGATTAGGCAATTTGAGGATTTTTTAAAATTTATTATTATTATTGAGACAAGATATTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCCAGTGATCTTCCAGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCATGCCTCGCTAATTTCTGTATTTTTAAAATTTTTCATAGAGATGGGGTATTACTATGTTGCTCAGCCTGGTCTCAAATTCCTGAGCTCAAGCGATCCTCCCACCTCAGCTTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCTAATTTGAGGATTTTTTTTTCTTTTTTTCCTTTTTCTTTTCTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCAACCTTGAGGATGTTTTAAGAGCAGGTGTAGGAACCCCAGGGGGTTGTGCATTCTATCTAAAAACTAGTAATAGGCCATTCCAGCTCAGGCCTGATGTGGGGAGGGGAGGGAGTCCTAGAACCTAGGGAGTGACTTTGTCTGGGGATGGGATGGCCAGCCTGCTGTAACCCTGCAGGAGGAAGCTGAAGGAATAAATTCCCTCCATTCATCCTCTGATTTCCATGCCCCTTGGACTAAAGCCCAGCCAGCAGCAGGTGGAGAGGGTAGAGAGTGGCCTGGAGAAGCAGGAAGGTGTCTGGCCCAGAGTCTCATGCATTGCAGGACCAGCTAGCACCTTGGCTTTCACAGGTTTCTTTTTTGTGAACATCACTGAAGCTCTGAAGCTTTGAGCAGCAGGATTAGGTGTTGCTTTGTTCTGGTTTGTTGCTAATAGTTGTGTATGTTGAAGCTGTTGTTTCAAAAGACGACGCCCAGGTTCCATTGCTCTATCTGGGGGGGCTGTGGCCCCTCACATTGGCGATCTCCTGACATGAAGAGTAATTTATATTTTTTTCAGGTGTCTAGAAGGCTCCCAAAAGCCTATTCCTTGGAAAACAGCATGGCACGGGAATCAGAGA
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GGGATTACAAGGATGACAAGAACCTGTCTTCTACCGAAGGAGACACATGATAAACAAGTAAACCAATGCAATTACTGTAGATTGTGGTTAGTTCTTTTGAAGGAACTAAACAGGTGCCTCTGGTAGAGATGAACAGGGCAAGTTACTTCAGTTAGGGTGGGTAAATGGTGCTGGGCAGAGTTAAACTGGTAGTACCTATTAGGAGAGCAGTTTATCAGTAGCTATCAAAATGTTAAAGGTATAAACCTTTTAATCCAGTAATTTCCTCTTCTAGAAATCTGCCCTACCAAAATACTAGTATACATGTGCAAGGATTTATGTGTAGGGATATTCATTGCAACATTGTCTGTAGTAATGAAAAGTCGAGGCAACCTAAGTGTCCATCAGTAGAGGAGCAGTTAAATTGTACATCCATCCGGTGAACCATCATAGAGTAACATAAGGGAGACATAGGCCACATGTTCCTGTGTAGAAGGATGGCCACAAGATACTGTTCTTTATGCAATTTTATGTATTCATTTATGTTTCACAGTTATGCATGATTTAGGCAGTTAGTATAAGGCATTTATATATATTATTTACAGATATTGTATTTAGGCATTACACTGTTGCAGAAAGTTTTACAATATGTATGGCTTGACCCCACTCTTGCTTAAGAAATGTAACTGTGTGAGTGTTGTTTGTGTGTGCATGGAACAGTATGTACCAGATTGGTTTTTCTGTTTTGTTTTGTTTTGTTTTGTTTTGTTGAGACAGGGTCTCGCTCTGTTATCCAGGCTGGAGTGTGGTAGTGTGATCATAGCTCACTATATTGAACAACTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTATGGGCATATACCACCACACCTGGCTAATTTCTTTTATTTTACAATTATTATTATCGTCATTTTTGTAGAGACAGAGTTTCACTTGGTTGTGCAGGCTGATGTTGAACTCTGGGGCTCAAGCAATCCTTCTGCCTCTATCTCCCAAAGTATTGGGATTATAGGCGTGAGCCATCATGCCCGGCCTAGAATGTTAACAGCCAGTACCACTAAGGAGTGAAATCAGAAGTGGGAAGAGGTCAGAGTCCCCTTTCTATTAATACTATATCATTTATTTTCTGTATTATTTGGGTTTGTTGTATCAAGCTTGCATTCCTTTTATCATTTTAGAAATCTGCATTTTTAATACTATTTTACCTCTACTCTCCTAAAATATAACAAAAACAGGTGAGCCAGGACAGGGGCCCAGACTCACCATGCAGTGGTCAGTCCTGGTTTCCTCTGTCCCTGCTCATGGCATGGCCACCGCGCTGGCAGGCAGGCCAGGGACAACGCAGGCCTTCCCCTGGCCACCCCGTGACAGCATCTGTCATCTCAGGGAACGCTGGAGCTGTGGGCATACGGGGCTTGGGCTCTCCATGCTGGGCTGGAAGGTTCTGTTCTGAGTGCCCACCCCTGGCTGTGCTGACTCAGATCCCAAGCAACCTGCTTGATGGTGGCCCTGTCTCCTCCCTGCAGGTACTACATGAGGCCTGTTCTTGCGGCCCATGTGTTTTCTGGTGAAGAGGAGCTTCCCCAGGACTCCCTCAGTGCCCCTTCGGTGGCCTCCAGATTCATTGATTCCCACACACCCCCTCTCCGCCCCATCCTGAAGAAGACGGCCAGCCTGGGCTTCTGTGTCACCTACGTCTTCTTCATCACCAGCCTCATCTACCCCGCCATCTGCACCAACATCGAGTCCCTCAACAAGGGTTCGGGCTCACTGTGGACCACCAAGTTTTTCATCCCCCTCACTACCTTCCTCCTGTACAACTTTGCTGACCTATGTGGCCGGCAGCTCACCGCCTGGATCCAGGTGCCAGGGCCCAATAGCAAGGCGCTCCCAGGGTTCGTGCTCCTCCGGACCTGCCTCATCCCCCTCTTCGTGCTCTGTAACTACCAGCCCCGCGTCCACCTGAAGACTGTGGTCTTCCAGTCCGATGTGTACCCCGCACTCCTCAGCTCCCTGCTGGGGCTCAGCAACAGCTACCTCAGCACCCTGGCCCTCCTCTACGGGCCTAAGATTGTGCCCAGGGAGCTGGCTGAGGCCACGGGAGTGGTGATGTCCTTTTATGTGTGCTTGGGCTTAACACTGGGCTCAGCCTGCTCTACCCTCCTGGTGCACCTCATCTAGAAGGGAGGACACAAGGACATTGGTGCTTCAGAGCCTTTGAAGATGAGAAGAGAGTGCAGGAGGGCTGGGGGCCATGGAGGAAAGGCCTAAAGTTTCACTTGGGGACAGAGAGCAGAGCACACTCGGGCCTCATCCCTCCCAAGATGCCAGTGAGCCACGTCCATGCCCATTCCGTGCAAGGCAGATATTCCAGTCATATTAACAGAACACTCCTGAGACAGTTGAAGAAGAAATAGCACAAATCAGGGGTACTCCCTTCACAGCTGATGGTTAACATTCCACCTTCTTTCTAGCCCTTCAAAGATGCTGCCAGTGTTCGCCCTAGAGTTATTACAAAGCCAGTGCCAAAACCCAGCCATGGGCTCTTTGCAACCTCCCAGCTGCGCTCATTCCAGCTGACAGCGAGATGCAAGCAAATGCTCAGCTCTCCTTACCCTGAAGGGGTCTCCCTGGAATGGAAGTCCCCTGGCATGGTCAGTCCTCAGGCCCAAGACTCAAGTGTGCACAGACCCCTGTGTTCTGTGGGTGAACAACTGCCCACTAACCAGACTGGAAAACCCAGAAAGATGGGCCTTCCATGAATGCTTCATTCCAGAGGGACCAGAGGGCCTCCCTGTGCAAGGGATCAAGCATGTCTGGCCTGGGTTTTCAAAAAAAGAGGGATCCTCATGACCTGGTGGTCTATGGCCTGGGTCAAGATGAGGGTCTTTCAGTGTTCCTGTTTACAACATGTCAAAGCCATTGGTTCAAGGGCGTAATAAATACTTGCGTATTCAATGTAAGCCTCATTGATGTCTCTGTTAGAGTCTTAACAAGCAATGGCACACTCAGATTAGGCAATTTGAGGATTTTTTAAAATTTATTATTATTATTGAGACAAGATATTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCCAGTGATCTTCCAGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCATGCCTCGCTAATTTCTGTATTTTTAAAATTTTTCATAGAGATGGGGTATTACTATGTTGCTCAGCCTGGTCTCAAATTCCTGAGCTCAAGCGATCCTCCCACCTCAGCTTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCTAATTTGAGGATTTTTTTTTCTTTTTTTCCTTTTTCTTTTCTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCAACCTTGAGGATGTTTTAAGAGCAGGTGTAGGAACCCCAGGGGGTTGTGCATTCTATCTAAAAACTAGTAATAGGCCATTCCAGCTCAGGCCTGATGTGGGGAGGGGAGGGAGTCCTAGAACCTAGGGAGTGACTTTGTCTGGGGATGGGATGGCCAGCCTGCTGTAACCCTGCAGGAGGAAGCTGAAGGAATAAATTCCCTCCATTCATCCTCTGATTTCCATGCCCCTTGGACTAAAGCCCAGCCAGCAGCAGGTGGAGAGGGTAGAGAGTGGCCTGGAGAAGCAGGAAGGTGTCTGGCCCAGAGTCTCATGCATTGCAGGACCAGCTAGCACCTTGGCTTTCACAGGTTTCTTTTTTGTGAACATCACTGAAGCTCTGAAGCTTTGAGCAGCAGGATTAGGTGTTGCTTTGTTCTGGTTTGTTGCTAATAGTTGTGTATGTTGAAGCTGTTGTTTCAAAAGACGACGCCCAGGTTCCATTGCTCTATCTGGGGGGGCTGTGGCCCCTCACATTGGCGATCTCCTGACATGAAGAGTAATTTATATTTTTTTCAGGTGTCTAGAAGGCTCCCAAAAGCCTATTCCTTGGAAAACAGCATGGCACGGGAATCAGAGA
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Task1_train_14010
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A variant was discovered in gene SLC29A3 (solute carrier family 29 member 3), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; H syndrome
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CTACCGAAGGAGACACATGATAAACAAGTAAACCAATGCAATTACTGTAGATTGTGGTTAGTTCTTTTGAAGGAACTAAACAGGTGCCTCTGGTAGAGATGAACAGGGCAAGTTACTTCAGTTAGGGTGGGTAAATGGTGCTGGGCAGAGTTAAACTGGTAGTACCTATTAGGAGAGCAGTTTATCAGTAGCTATCAAAATGTTAAAGGTATAAACCTTTTAATCCAGTAATTTCCTCTTCTAGAAATCTGCCCTACCAAAATACTAGTATACATGTGCAAGGATTTATGTGTAGGGATATTCATTGCAACATTGTCTGTAGTAATGAAAAGTCGAGGCAACCTAAGTGTCCATCAGTAGAGGAGCAGTTAAATTGTACATCCATCCGGTGAACCATCATAGAGTAACATAAGGGAGACATAGGCCACATGTTCCTGTGTAGAAGGATGGCCACAAGATACTGTTCTTTATGCAATTTTATGTATTCATTTATGTTTCACAGTTATGCATGATTTAGGCAGTTAGTATAAGGCATTTATATATATTATTTACAGATATTGTATTTAGGCATTACACTGTTGCAGAAAGTTTTACAATATGTATGGCTTGACCCCACTCTTGCTTAAGAAATGTAACTGTGTGAGTGTTGTTTGTGTGTGCATGGAACAGTATGTACCAGATTGGTTTTTCTGTTTTGTTTTGTTTTGTTTTGTTTTGTTGAGACAGGGTCTCGCTCTGTTATCCAGGCTGGAGTGTGGTAGTGTGATCATAGCTCACTATATTGAACAACTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTATGGGCATATACCACCACACCTGGCTAATTTCTTTTATTTTACAATTATTATTATCGTCATTTTTGTAGAGACAGAGTTTCACTTGGTTGTGCAGGCTGATGTTGAACTCTGGGGCTCAAGCAATCCTTCTGCCTCTATCTCCCAAAGTATTGGGATTATAGGCGTGAGCCATCATGCCCGGCCTAGAATGTTAACAGCCAGTACCACTAAGGAGTGAAATCAGAAGTGGGAAGAGGTCAGAGTCCCCTTTCTATTAATACTATATCATTTATTTTCTGTATTATTTGGGTTTGTTGTATCAAGCTTGCATTCCTTTTATCATTTTAGAAATCTGCATTTTTAATACTATTTTACCTCTACTCTCCTAAAATATAACAAAAACAGGTGAGCCAGGACAGGGGCCCAGACTCACCATGCAGTGGTCAGTCCTGGTTTCCTCTGTCCCTGCTCATGGCATGGCCACCGCGCTGGCAGGCAGGCCAGGGACAACGCAGGCCTTCCCCTGGCCACCCCGTGACAGCATCTGTCATCTCAGGGAACGCTGGAGCTGTGGGCATACGGGGCTTGGGCTCTCCATGCTGGGCTGGAAGGTTCTGTTCTGAGTGCCCACCCCTGGCTGTGCTGACTCAGATCCCAAGCAACCTGCTTGATGGTGGCCCTGTCTCCTCCCTGCAGGTACTACATGAGGCCTGTTCTTGCGGCCCATGTGTTTTCTGGTGAAGAGGAGCTTCCCCAGGACTCCCTCAGTGCCCCTTCGGTGGCCTCCAGATTCATTGATTCCCACACACCCCCTCTCCGCCCCATCCTGAAGAAGACGGCCAGCCTGGGCTTCTGTGTCACCTACGTCTTCTTCATCACCAGCCTCATCTACCCCGCCATCTGCACCAACATCGAGTCCCTCAACAAGGGTTCGGGCTCACTGTGGACCACCAAGTTTTTCATCCCCCTCACTACCTTCCTCCTGTACAACTTTGCTGACCTATGTGGCCGGCAGCTCACCGCCTGGATCCAGGTGCCAGGGCCCAATAGCAAGGCGCTCCCAGGGTTCGTGCTCCTCCGGACCTGCCTCATCCCCCTCTTCGTGCTCTGTAACTACCAGCCCCGCGTCCACCTGAAGACTGTGGTCTTCCAGTCCGATGTGTACCCCGCACTCCTCAGCTCCCTGCTGGGGCTCAGCAACGGCTACCTCAGCACCCTGGCCCTCCTCTACGGGCCTAAGATTGTGCCCAGGGAGCTGGCTGAGGCCACGGGAGTGGTGATGTCCTTTTATGTGTGCTTGGGCTTAACACTGGGCTCAGCCTGCTCTACCCTCCTGGTGCACCTCATCTAGAAGGGAGGACACAAGGACATTGGTGCTTCAGAGCCTTTGAAGATGAGAAGAGAGTGCAGGAGGGCTGGGGGCCATGGAGGAAAGGCCTAAAGTTTCACTTGGGGACAGAGAGCAGAGCACACTCGGGCCTCATCCCTCCCAAGATGCCAGTGAGCCACGTCCATGCCCATTCCGTGCAAGGCAGATATTCCAGTCATATTAACAGAACACTCCTGAGACAGTTGAAGAAGAAATAGCACAAATCAGGGGTACTCCCTTCACAGCTGATGGTTAACATTCCACCTTCTTTCTAGCCCTTCAAAGATGCTGCCAGTGTTCGCCCTAGAGTTATTACAAAGCCAGTGCCAAAACCCAGCCATGGGCTCTTTGCAACCTCCCAGCTGCGCTCATTCCAGCTGACAGCGAGATGCAAGCAAATGCTCAGCTCTCCTTACCCTGAAGGGGTCTCCCTGGAATGGAAGTCCCCTGGCATGGTCAGTCCTCAGGCCCAAGACTCAAGTGTGCACAGACCCCTGTGTTCTGTGGGTGAACAACTGCCCACTAACCAGACTGGAAAACCCAGAAAGATGGGCCTTCCATGAATGCTTCATTCCAGAGGGACCAGAGGGCCTCCCTGTGCAAGGGATCAAGCATGTCTGGCCTGGGTTTTCAAAAAAAGAGGGATCCTCATGACCTGGTGGTCTATGGCCTGGGTCAAGATGAGGGTCTTTCAGTGTTCCTGTTTACAACATGTCAAAGCCATTGGTTCAAGGGCGTAATAAATACTTGCGTATTCAATGTAAGCCTCATTGATGTCTCTGTTAGAGTCTTAACAAGCAATGGCACACTCAGATTAGGCAATTTGAGGATTTTTTAAAATTTATTATTATTATTGAGACAAGATATTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCCAGTGATCTTCCAGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCATGCCTCGCTAATTTCTGTATTTTTAAAATTTTTCATAGAGATGGGGTATTACTATGTTGCTCAGCCTGGTCTCAAATTCCTGAGCTCAAGCGATCCTCCCACCTCAGCTTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCTAATTTGAGGATTTTTTTTTCTTTTTTTCCTTTTTCTTTTCTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCAACCTTGAGGATGTTTTAAGAGCAGGTGTAGGAACCCCAGGGGGTTGTGCATTCTATCTAAAAACTAGTAATAGGCCATTCCAGCTCAGGCCTGATGTGGGGAGGGGAGGGAGTCCTAGAACCTAGGGAGTGACTTTGTCTGGGGATGGGATGGCCAGCCTGCTGTAACCCTGCAGGAGGAAGCTGAAGGAATAAATTCCCTCCATTCATCCTCTGATTTCCATGCCCCTTGGACTAAAGCCCAGCCAGCAGCAGGTGGAGAGGGTAGAGAGTGGCCTGGAGAAGCAGGAAGGTGTCTGGCCCAGAGTCTCATGCATTGCAGGACCAGCTAGCACCTTGGCTTTCACAGGTTTCTTTTTTGTGAACATCACTGAAGCTCTGAAGCTTTGAGCAGCAGGATTAGGTGTTGCTTTGTTCTGGTTTGTTGCTAATAGTTGTGTATGTTGAAGCTGTTGTTTCAAAAGACGACGCCCAGGTTCCATTGCTCTATCTGGGGGGGCTGTGGCCCCTCACATTGGCGATCTCCTGACATGAAGAGTAATTTATATTTTTTTCAGGTGTCTAGAAGGCTCCCAAAAGCCTATTCCTTGGAAAACAGCATGGCACGGGAATCAGAGAGAGAAAGGAACCAGATCAGACGAGGAGCTC
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CTACCGAAGGAGACACATGATAAACAAGTAAACCAATGCAATTACTGTAGATTGTGGTTAGTTCTTTTGAAGGAACTAAACAGGTGCCTCTGGTAGAGATGAACAGGGCAAGTTACTTCAGTTAGGGTGGGTAAATGGTGCTGGGCAGAGTTAAACTGGTAGTACCTATTAGGAGAGCAGTTTATCAGTAGCTATCAAAATGTTAAAGGTATAAACCTTTTAATCCAGTAATTTCCTCTTCTAGAAATCTGCCCTACCAAAATACTAGTATACATGTGCAAGGATTTATGTGTAGGGATATTCATTGCAACATTGTCTGTAGTAATGAAAAGTCGAGGCAACCTAAGTGTCCATCAGTAGAGGAGCAGTTAAATTGTACATCCATCCGGTGAACCATCATAGAGTAACATAAGGGAGACATAGGCCACATGTTCCTGTGTAGAAGGATGGCCACAAGATACTGTTCTTTATGCAATTTTATGTATTCATTTATGTTTCACAGTTATGCATGATTTAGGCAGTTAGTATAAGGCATTTATATATATTATTTACAGATATTGTATTTAGGCATTACACTGTTGCAGAAAGTTTTACAATATGTATGGCTTGACCCCACTCTTGCTTAAGAAATGTAACTGTGTGAGTGTTGTTTGTGTGTGCATGGAACAGTATGTACCAGATTGGTTTTTCTGTTTTGTTTTGTTTTGTTTTGTTTTGTTGAGACAGGGTCTCGCTCTGTTATCCAGGCTGGAGTGTGGTAGTGTGATCATAGCTCACTATATTGAACAACTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTATGGGCATATACCACCACACCTGGCTAATTTCTTTTATTTTACAATTATTATTATCGTCATTTTTGTAGAGACAGAGTTTCACTTGGTTGTGCAGGCTGATGTTGAACTCTGGGGCTCAAGCAATCCTTCTGCCTCTATCTCCCAAAGTATTGGGATTATAGGCGTGAGCCATCATGCCCGGCCTAGAATGTTAACAGCCAGTACCACTAAGGAGTGAAATCAGAAGTGGGAAGAGGTCAGAGTCCCCTTTCTATTAATACTATATCATTTATTTTCTGTATTATTTGGGTTTGTTGTATCAAGCTTGCATTCCTTTTATCATTTTAGAAATCTGCATTTTTAATACTATTTTACCTCTACTCTCCTAAAATATAACAAAAACAGGTGAGCCAGGACAGGGGCCCAGACTCACCATGCAGTGGTCAGTCCTGGTTTCCTCTGTCCCTGCTCATGGCATGGCCACCGCGCTGGCAGGCAGGCCAGGGACAACGCAGGCCTTCCCCTGGCCACCCCGTGACAGCATCTGTCATCTCAGGGAACGCTGGAGCTGTGGGCATACGGGGCTTGGGCTCTCCATGCTGGGCTGGAAGGTTCTGTTCTGAGTGCCCACCCCTGGCTGTGCTGACTCAGATCCCAAGCAACCTGCTTGATGGTGGCCCTGTCTCCTCCCTGCAGGTACTACATGAGGCCTGTTCTTGCGGCCCATGTGTTTTCTGGTGAAGAGGAGCTTCCCCAGGACTCCCTCAGTGCCCCTTCGGTGGCCTCCAGATTCATTGATTCCCACACACCCCCTCTCCGCCCCATCCTGAAGAAGACGGCCAGCCTGGGCTTCTGTGTCACCTACGTCTTCTTCATCACCAGCCTCATCTACCCCGCCATCTGCACCAACATCGAGTCCCTCAACAAGGGTTCGGGCTCACTGTGGACCACCAAGTTTTTCATCCCCCTCACTACCTTCCTCCTGTACAACTTTGCTGACCTATGTGGCCGGCAGCTCACCGCCTGGATCCAGGTGCCAGGGCCCAATAGCAAGGCGCTCCCAGGGTTCGTGCTCCTCCGGACCTGCCTCATCCCCCTCTTCGTGCTCTGTAACTACCAGCCCCGCGTCCACCTGAAGACTGTGGTCTTCCAGTCCGATGTGTACCCCGCACTCCTCAGCTCCCTGCTGGGGCTCAGCAACGGCTACCTCAGCACCCTGGCCCTCCTCTACAGGCCTAAGATTGTGCCCAGGGAGCTGGCTGAGGCCACGGGAGTGGTGATGTCCTTTTATGTGTGCTTGGGCTTAACACTGGGCTCAGCCTGCTCTACCCTCCTGGTGCACCTCATCTAGAAGGGAGGACACAAGGACATTGGTGCTTCAGAGCCTTTGAAGATGAGAAGAGAGTGCAGGAGGGCTGGGGGCCATGGAGGAAAGGCCTAAAGTTTCACTTGGGGACAGAGAGCAGAGCACACTCGGGCCTCATCCCTCCCAAGATGCCAGTGAGCCACGTCCATGCCCATTCCGTGCAAGGCAGATATTCCAGTCATATTAACAGAACACTCCTGAGACAGTTGAAGAAGAAATAGCACAAATCAGGGGTACTCCCTTCACAGCTGATGGTTAACATTCCACCTTCTTTCTAGCCCTTCAAAGATGCTGCCAGTGTTCGCCCTAGAGTTATTACAAAGCCAGTGCCAAAACCCAGCCATGGGCTCTTTGCAACCTCCCAGCTGCGCTCATTCCAGCTGACAGCGAGATGCAAGCAAATGCTCAGCTCTCCTTACCCTGAAGGGGTCTCCCTGGAATGGAAGTCCCCTGGCATGGTCAGTCCTCAGGCCCAAGACTCAAGTGTGCACAGACCCCTGTGTTCTGTGGGTGAACAACTGCCCACTAACCAGACTGGAAAACCCAGAAAGATGGGCCTTCCATGAATGCTTCATTCCAGAGGGACCAGAGGGCCTCCCTGTGCAAGGGATCAAGCATGTCTGGCCTGGGTTTTCAAAAAAAGAGGGATCCTCATGACCTGGTGGTCTATGGCCTGGGTCAAGATGAGGGTCTTTCAGTGTTCCTGTTTACAACATGTCAAAGCCATTGGTTCAAGGGCGTAATAAATACTTGCGTATTCAATGTAAGCCTCATTGATGTCTCTGTTAGAGTCTTAACAAGCAATGGCACACTCAGATTAGGCAATTTGAGGATTTTTTAAAATTTATTATTATTATTGAGACAAGATATTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCCAGTGATCTTCCAGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCATGCCTCGCTAATTTCTGTATTTTTAAAATTTTTCATAGAGATGGGGTATTACTATGTTGCTCAGCCTGGTCTCAAATTCCTGAGCTCAAGCGATCCTCCCACCTCAGCTTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCTAATTTGAGGATTTTTTTTTCTTTTTTTCCTTTTTCTTTTCTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCAACCTTGAGGATGTTTTAAGAGCAGGTGTAGGAACCCCAGGGGGTTGTGCATTCTATCTAAAAACTAGTAATAGGCCATTCCAGCTCAGGCCTGATGTGGGGAGGGGAGGGAGTCCTAGAACCTAGGGAGTGACTTTGTCTGGGGATGGGATGGCCAGCCTGCTGTAACCCTGCAGGAGGAAGCTGAAGGAATAAATTCCCTCCATTCATCCTCTGATTTCCATGCCCCTTGGACTAAAGCCCAGCCAGCAGCAGGTGGAGAGGGTAGAGAGTGGCCTGGAGAAGCAGGAAGGTGTCTGGCCCAGAGTCTCATGCATTGCAGGACCAGCTAGCACCTTGGCTTTCACAGGTTTCTTTTTTGTGAACATCACTGAAGCTCTGAAGCTTTGAGCAGCAGGATTAGGTGTTGCTTTGTTCTGGTTTGTTGCTAATAGTTGTGTATGTTGAAGCTGTTGTTTCAAAAGACGACGCCCAGGTTCCATTGCTCTATCTGGGGGGGCTGTGGCCCCTCACATTGGCGATCTCCTGACATGAAGAGTAATTTATATTTTTTTCAGGTGTCTAGAAGGCTCCCAAAAGCCTATTCCTTGGAAAACAGCATGGCACGGGAATCAGAGAGAGAAAGGAACCAGATCAGACGAGGAGCTC
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Task1_train_14011
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A mutation found in SLC29A3 (solute carrier family 29 member 3) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; SLC29A3-related disorder
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GCAATTACTGTAGATTGTGGTTAGTTCTTTTGAAGGAACTAAACAGGTGCCTCTGGTAGAGATGAACAGGGCAAGTTACTTCAGTTAGGGTGGGTAAATGGTGCTGGGCAGAGTTAAACTGGTAGTACCTATTAGGAGAGCAGTTTATCAGTAGCTATCAAAATGTTAAAGGTATAAACCTTTTAATCCAGTAATTTCCTCTTCTAGAAATCTGCCCTACCAAAATACTAGTATACATGTGCAAGGATTTATGTGTAGGGATATTCATTGCAACATTGTCTGTAGTAATGAAAAGTCGAGGCAACCTAAGTGTCCATCAGTAGAGGAGCAGTTAAATTGTACATCCATCCGGTGAACCATCATAGAGTAACATAAGGGAGACATAGGCCACATGTTCCTGTGTAGAAGGATGGCCACAAGATACTGTTCTTTATGCAATTTTATGTATTCATTTATGTTTCACAGTTATGCATGATTTAGGCAGTTAGTATAAGGCATTTATATATATTATTTACAGATATTGTATTTAGGCATTACACTGTTGCAGAAAGTTTTACAATATGTATGGCTTGACCCCACTCTTGCTTAAGAAATGTAACTGTGTGAGTGTTGTTTGTGTGTGCATGGAACAGTATGTACCAGATTGGTTTTTCTGTTTTGTTTTGTTTTGTTTTGTTTTGTTGAGACAGGGTCTCGCTCTGTTATCCAGGCTGGAGTGTGGTAGTGTGATCATAGCTCACTATATTGAACAACTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTATGGGCATATACCACCACACCTGGCTAATTTCTTTTATTTTACAATTATTATTATCGTCATTTTTGTAGAGACAGAGTTTCACTTGGTTGTGCAGGCTGATGTTGAACTCTGGGGCTCAAGCAATCCTTCTGCCTCTATCTCCCAAAGTATTGGGATTATAGGCGTGAGCCATCATGCCCGGCCTAGAATGTTAACAGCCAGTACCACTAAGGAGTGAAATCAGAAGTGGGAAGAGGTCAGAGTCCCCTTTCTATTAATACTATATCATTTATTTTCTGTATTATTTGGGTTTGTTGTATCAAGCTTGCATTCCTTTTATCATTTTAGAAATCTGCATTTTTAATACTATTTTACCTCTACTCTCCTAAAATATAACAAAAACAGGTGAGCCAGGACAGGGGCCCAGACTCACCATGCAGTGGTCAGTCCTGGTTTCCTCTGTCCCTGCTCATGGCATGGCCACCGCGCTGGCAGGCAGGCCAGGGACAACGCAGGCCTTCCCCTGGCCACCCCGTGACAGCATCTGTCATCTCAGGGAACGCTGGAGCTGTGGGCATACGGGGCTTGGGCTCTCCATGCTGGGCTGGAAGGTTCTGTTCTGAGTGCCCACCCCTGGCTGTGCTGACTCAGATCCCAAGCAACCTGCTTGATGGTGGCCCTGTCTCCTCCCTGCAGGTACTACATGAGGCCTGTTCTTGCGGCCCATGTGTTTTCTGGTGAAGAGGAGCTTCCCCAGGACTCCCTCAGTGCCCCTTCGGTGGCCTCCAGATTCATTGATTCCCACACACCCCCTCTCCGCCCCATCCTGAAGAAGACGGCCAGCCTGGGCTTCTGTGTCACCTACGTCTTCTTCATCACCAGCCTCATCTACCCCGCCATCTGCACCAACATCGAGTCCCTCAACAAGGGTTCGGGCTCACTGTGGACCACCAAGTTTTTCATCCCCCTCACTACCTTCCTCCTGTACAACTTTGCTGACCTATGTGGCCGGCAGCTCACCGCCTGGATCCAGGTGCCAGGGCCCAATAGCAAGGCGCTCCCAGGGTTCGTGCTCCTCCGGACCTGCCTCATCCCCCTCTTCGTGCTCTGTAACTACCAGCCCCGCGTCCACCTGAAGACTGTGGTCTTCCAGTCCGATGTGTACCCCGCACTCCTCAGCTCCCTGCTGGGGCTCAGCAACGGCTACCTCAGCACCCTGGCCCTCCTCTACGGGCCTAAGATTGTGCCCAGGGAGCTGGCTGAGGCCACGGGAGTGGTGATGTCCTTTTATGTGTGCTTGGGCTTAACACTGGGCTCAGCCTGCTCTACCCTCCTGGTGCACCTCATCTAGAAGGGAGGACACAAGGACATTGGTGCTTCAGAGCCTTTGAAGATGAGAAGAGAGTGCAGGAGGGCTGGGGGCCATGGAGGAAAGGCCTAAAGTTTCACTTGGGGACAGAGAGCAGAGCACACTCGGGCCTCATCCCTCCCAAGATGCCAGTGAGCCACGTCCATGCCCATTCCGTGCAAGGCAGATATTCCAGTCATATTAACAGAACACTCCTGAGACAGTTGAAGAAGAAATAGCACAAATCAGGGGTACTCCCTTCACAGCTGATGGTTAACATTCCACCTTCTTTCTAGCCCTTCAAAGATGCTGCCAGTGTTCGCCCTAGAGTTATTACAAAGCCAGTGCCAAAACCCAGCCATGGGCTCTTTGCAACCTCCCAGCTGCGCTCATTCCAGCTGACAGCGAGATGCAAGCAAATGCTCAGCTCTCCTTACCCTGAAGGGGTCTCCCTGGAATGGAAGTCCCCTGGCATGGTCAGTCCTCAGGCCCAAGACTCAAGTGTGCACAGACCCCTGTGTTCTGTGGGTGAACAACTGCCCACTAACCAGACTGGAAAACCCAGAAAGATGGGCCTTCCATGAATGCTTCATTCCAGAGGGACCAGAGGGCCTCCCTGTGCAAGGGATCAAGCATGTCTGGCCTGGGTTTTCAAAAAAAGAGGGATCCTCATGACCTGGTGGTCTATGGCCTGGGTCAAGATGAGGGTCTTTCAGTGTTCCTGTTTACAACATGTCAAAGCCATTGGTTCAAGGGCGTAATAAATACTTGCGTATTCAATGTAAGCCTCATTGATGTCTCTGTTAGAGTCTTAACAAGCAATGGCACACTCAGATTAGGCAATTTGAGGATTTTTTAAAATTTATTATTATTATTGAGACAAGATATTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCCAGTGATCTTCCAGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCATGCCTCGCTAATTTCTGTATTTTTAAAATTTTTCATAGAGATGGGGTATTACTATGTTGCTCAGCCTGGTCTCAAATTCCTGAGCTCAAGCGATCCTCCCACCTCAGCTTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCTAATTTGAGGATTTTTTTTTCTTTTTTTCCTTTTTCTTTTCTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCAACCTTGAGGATGTTTTAAGAGCAGGTGTAGGAACCCCAGGGGGTTGTGCATTCTATCTAAAAACTAGTAATAGGCCATTCCAGCTCAGGCCTGATGTGGGGAGGGGAGGGAGTCCTAGAACCTAGGGAGTGACTTTGTCTGGGGATGGGATGGCCAGCCTGCTGTAACCCTGCAGGAGGAAGCTGAAGGAATAAATTCCCTCCATTCATCCTCTGATTTCCATGCCCCTTGGACTAAAGCCCAGCCAGCAGCAGGTGGAGAGGGTAGAGAGTGGCCTGGAGAAGCAGGAAGGTGTCTGGCCCAGAGTCTCATGCATTGCAGGACCAGCTAGCACCTTGGCTTTCACAGGTTTCTTTTTTGTGAACATCACTGAAGCTCTGAAGCTTTGAGCAGCAGGATTAGGTGTTGCTTTGTTCTGGTTTGTTGCTAATAGTTGTGTATGTTGAAGCTGTTGTTTCAAAAGACGACGCCCAGGTTCCATTGCTCTATCTGGGGGGGCTGTGGCCCCTCACATTGGCGATCTCCTGACATGAAGAGTAATTTATATTTTTTTCAGGTGTCTAGAAGGCTCCCAAAAGCCTATTCCTTGGAAAACAGCATGGCACGGGAATCAGAGAGAGAAAGGAACCAGATCAGACGAGGAGCTCTCTCTCAAGAGTCCTGCAGAAAGAACAGAACTTACCC
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GCAATTACTGTAGATTGTGGTTAGTTCTTTTGAAGGAACTAAACAGGTGCCTCTGGTAGAGATGAACAGGGCAAGTTACTTCAGTTAGGGTGGGTAAATGGTGCTGGGCAGAGTTAAACTGGTAGTACCTATTAGGAGAGCAGTTTATCAGTAGCTATCAAAATGTTAAAGGTATAAACCTTTTAATCCAGTAATTTCCTCTTCTAGAAATCTGCCCTACCAAAATACTAGTATACATGTGCAAGGATTTATGTGTAGGGATATTCATTGCAACATTGTCTGTAGTAATGAAAAGTCGAGGCAACCTAAGTGTCCATCAGTAGAGGAGCAGTTAAATTGTACATCCATCCGGTGAACCATCATAGAGTAACATAAGGGAGACATAGGCCACATGTTCCTGTGTAGAAGGATGGCCACAAGATACTGTTCTTTATGCAATTTTATGTATTCATTTATGTTTCACAGTTATGCATGATTTAGGCAGTTAGTATAAGGCATTTATATATATTATTTACAGATATTGTATTTAGGCATTACACTGTTGCAGAAAGTTTTACAATATGTATGGCTTGACCCCACTCTTGCTTAAGAAATGTAACTGTGTGAGTGTTGTTTGTGTGTGCATGGAACAGTATGTACCAGATTGGTTTTTCTGTTTTGTTTTGTTTTGTTTTGTTTTGTTGAGACAGGGTCTCGCTCTGTTATCCAGGCTGGAGTGTGGTAGTGTGATCATAGCTCACTATATTGAACAACTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTATGGGCATATACCACCACACCTGGCTAATTTCTTTTATTTTACAATTATTATTATCGTCATTTTTGTAGAGACAGAGTTTCACTTGGTTGTGCAGGCTGATGTTGAACTCTGGGGCTCAAGCAATCCTTCTGCCTCTATCTCCCAAAGTATTGGGATTATAGGCGTGAGCCATCATGCCCGGCCTAGAATGTTAACAGCCAGTACCACTAAGGAGTGAAATCAGAAGTGGGAAGAGGTCAGAGTCCCCTTTCTATTAATACTATATCATTTATTTTCTGTATTATTTGGGTTTGTTGTATCAAGCTTGCATTCCTTTTATCATTTTAGAAATCTGCATTTTTAATACTATTTTACCTCTACTCTCCTAAAATATAACAAAAACAGGTGAGCCAGGACAGGGGCCCAGACTCACCATGCAGTGGTCAGTCCTGGTTTCCTCTGTCCCTGCTCATGGCATGGCCACCGCGCTGGCAGGCAGGCCAGGGACAACGCAGGCCTTCCCCTGGCCACCCCGTGACAGCATCTGTCATCTCAGGGAACGCTGGAGCTGTGGGCATACGGGGCTTGGGCTCTCCATGCTGGGCTGGAAGGTTCTGTTCTGAGTGCCCACCCCTGGCTGTGCTGACTCAGATCCCAAGCAACCTGCTTGATGGTGGCCCTGTCTCCTCCCTGCAGGTACTACATGAGGCCTGTTCTTGCGGCCCATGTGTTTTCTGGTGAAGAGGAGCTTCCCCAGGACTCCCTCAGTGCCCCTTCGGTGGCCTCCAGATTCATTGATTCCCACACACCCCCTCTCCGCCCCATCCTGAAGAAGACGGCCAGCCTGGGCTTCTGTGTCACCTACGTCTTCTTCATCACCAGCCTCATCTACCCCGCCATCTGCACCAACATCGAGTCCCTCAACAAGGGTTCGGGCTCACTGTGGACCACCAAGTTTTTCATCCCCCTCACTACCTTCCTCCTGTACAACTTTGCTGACCTATGTGGCCGGCAGCTCACCGCCTGGATCCAGGTGCCAGGGCCCAATAGCAAGGCGCTCCCAGGGTTCGTGCTCCTCCGGACCTGCCTCATCCCCCTCTTCGTGCTCTGTAACTACCAGCCCCGCGTCCACCTGAAGACTGTGGTCTTCCAGTCCGATGTGTACCCCGCACTCCTCAGCTCCCTGCTGGGGCTCAGCAACGGCTACCTCAGCACCCTGGCCCTCCTCTACGGGCCTAAGATTGTGCCCAGGGAGCTGGCTGAGGCCAGGGGAGTGGTGATGTCCTTTTATGTGTGCTTGGGCTTAACACTGGGCTCAGCCTGCTCTACCCTCCTGGTGCACCTCATCTAGAAGGGAGGACACAAGGACATTGGTGCTTCAGAGCCTTTGAAGATGAGAAGAGAGTGCAGGAGGGCTGGGGGCCATGGAGGAAAGGCCTAAAGTTTCACTTGGGGACAGAGAGCAGAGCACACTCGGGCCTCATCCCTCCCAAGATGCCAGTGAGCCACGTCCATGCCCATTCCGTGCAAGGCAGATATTCCAGTCATATTAACAGAACACTCCTGAGACAGTTGAAGAAGAAATAGCACAAATCAGGGGTACTCCCTTCACAGCTGATGGTTAACATTCCACCTTCTTTCTAGCCCTTCAAAGATGCTGCCAGTGTTCGCCCTAGAGTTATTACAAAGCCAGTGCCAAAACCCAGCCATGGGCTCTTTGCAACCTCCCAGCTGCGCTCATTCCAGCTGACAGCGAGATGCAAGCAAATGCTCAGCTCTCCTTACCCTGAAGGGGTCTCCCTGGAATGGAAGTCCCCTGGCATGGTCAGTCCTCAGGCCCAAGACTCAAGTGTGCACAGACCCCTGTGTTCTGTGGGTGAACAACTGCCCACTAACCAGACTGGAAAACCCAGAAAGATGGGCCTTCCATGAATGCTTCATTCCAGAGGGACCAGAGGGCCTCCCTGTGCAAGGGATCAAGCATGTCTGGCCTGGGTTTTCAAAAAAAGAGGGATCCTCATGACCTGGTGGTCTATGGCCTGGGTCAAGATGAGGGTCTTTCAGTGTTCCTGTTTACAACATGTCAAAGCCATTGGTTCAAGGGCGTAATAAATACTTGCGTATTCAATGTAAGCCTCATTGATGTCTCTGTTAGAGTCTTAACAAGCAATGGCACACTCAGATTAGGCAATTTGAGGATTTTTTAAAATTTATTATTATTATTGAGACAAGATATTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCCAGTGATCTTCCAGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCATGCCTCGCTAATTTCTGTATTTTTAAAATTTTTCATAGAGATGGGGTATTACTATGTTGCTCAGCCTGGTCTCAAATTCCTGAGCTCAAGCGATCCTCCCACCTCAGCTTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCTAATTTGAGGATTTTTTTTTCTTTTTTTCCTTTTTCTTTTCTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCAACCTTGAGGATGTTTTAAGAGCAGGTGTAGGAACCCCAGGGGGTTGTGCATTCTATCTAAAAACTAGTAATAGGCCATTCCAGCTCAGGCCTGATGTGGGGAGGGGAGGGAGTCCTAGAACCTAGGGAGTGACTTTGTCTGGGGATGGGATGGCCAGCCTGCTGTAACCCTGCAGGAGGAAGCTGAAGGAATAAATTCCCTCCATTCATCCTCTGATTTCCATGCCCCTTGGACTAAAGCCCAGCCAGCAGCAGGTGGAGAGGGTAGAGAGTGGCCTGGAGAAGCAGGAAGGTGTCTGGCCCAGAGTCTCATGCATTGCAGGACCAGCTAGCACCTTGGCTTTCACAGGTTTCTTTTTTGTGAACATCACTGAAGCTCTGAAGCTTTGAGCAGCAGGATTAGGTGTTGCTTTGTTCTGGTTTGTTGCTAATAGTTGTGTATGTTGAAGCTGTTGTTTCAAAAGACGACGCCCAGGTTCCATTGCTCTATCTGGGGGGGCTGTGGCCCCTCACATTGGCGATCTCCTGACATGAAGAGTAATTTATATTTTTTTCAGGTGTCTAGAAGGCTCCCAAAAGCCTATTCCTTGGAAAACAGCATGGCACGGGAATCAGAGAGAGAAAGGAACCAGATCAGACGAGGAGCTCTCTCTCAAGAGTCCTGCAGAAAGAACAGAACTTACCC
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Task1_train_14012
|
The following genetic variant occurs in CDH23 (cadherin related 23) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; not provided
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CTACCCTGTTTCCTGTTGTTGTTGTTGTTGTTAAATATTTGGTAGAATTCACCAGTGAAGCTGTTGAGTCCTGTGCTTTTCTTTGTTGGAAGATTTTTGATTACCGAATCAAATAAACATAAAAGCATAATGTTGAATTAAAAAGCAAGCTTCAGAGTGATCTATTGTATATGAAAACCATCTATTTACAAATACCCACAAAACAGTATCTTATATTATTCATGGCTAGATATAGATACATATGAAGTACAAAAGCAGACTTTCACACAGGGGGCTGGCAGCTCTGAAATCAGAATGTGGCCCTCCTTTCTTGTGGCAGGAGCCGTGGGCCCCCATGAAGTGTTTCGTTCTGGATTCATGGGACTGGCTCTGGCACTTCTGTGTGATCTAGAAAGAGAGAGGGCAGGACAGAGAACTGTGGGTTAGCTGAGAACCTCAGAAAGATCTCCTTAAGGTGGGGGAGGGGTGGTGGAAATAAGGGATGCTAAGGTACCCAGGGCTTAGCAACAGGGGAAAGTTCTACCCCTAGGGCTGAAGGGAAAGGAGACGAAAATTGTATTATCAGAGCCCACTGAGAGTTGGGGCCATGGAAGAGAGCCTGCTGGGGTAGAGCTGGAGGGGGTAGAGGAAGTAAGACCCCAAACTCTTTCTCTTCCTGCTCTGGGAGCTCCTACCAGAACTTCCCATTGGCAGAATCCAGCTGGAAGCCAGCCAGCAAGAGAGCCTGGAGATGCAATCCATTGAGAGCCCGGGGATTGGGGAAAGGCAGAACTGGGTGGATCATGGTGCCAGGGGAGTGGGTAGACAGGGAATGCCCTGGATGGTACTGTTAATATCAGTGCTTCTTGACACCTCCCTGCCCCACCCTTGAAGGTGCCCTTGTCTGTGCCCCTCTAGGTTTCCAGAAATTAAAATTGCAACTACTGTCTTCTCAGCACTTATGTGCTAGAATGTTTACACTCATGATCTTATGTATTCTTCACACTAACCCTGTGAGATATGATTAGCTTCAGTGTACAGTGAAGGGATTAAGGATCAGAGAGATTATGTAATTAACCCAAAGACACACAACAAGGCTGGGATTCCAACAAATGGTCTGTCCATCCCTGAAACTCTAGCACTTGTCTGCTTTGCCCCCTTGCAGACTTGATTCTGTTTTGGAGGGAATGAGCATCTTCCAAGCAGCTGAATTAGGATAGGCAAACCTAGCAAAGGAAAAGCACATTCAGACAGCCAGAGGTGTGAGGGAGCCTGCTGGGTTCAAGAAGTATAAATAGCTCCATGCCTCCAGGAAATAAAATGTGAAGGGGGAGACGGGAATGGACCACAAGGGCCTGTGTTCTATGCAAAGGGCACTGGGGAGTCACGGATGGTGAGGAGGAGAGGGGCGCCCTGCATCTGCCTCCTGTCCCCAGTGGACAGAGTGGTTGGAACAGGCAGGACGTGAGCCTGCCCATTCAGGTTGACACTTGTCTGCTGATGGGGGCAAATCCACAAACCCAGGAAGAACCCTCAGCAGCCCCATCCATTGTTCTCCGGAGGCCCTTTCCAGCCTGACCAGGGGCCCCGTAAAGAGCACCCCTGTGTTAAGTGCATGGTCTGTCTGTGAAGGGCTGCCAGGAGGGAGGCTTGAGGCTGGTCCCCAAAAAGGAAGCCTGCAGCTTGGGCAGCCAAGGAGCATTTGACAGAGGAAGCGAAACCACCAAGAAACAGGTTTGGGGACCGTAAGACCCCTCATCCAGAACTCTAGGTTAAGCAAATCATCTTTGGAACTGGTGCTCTTTACAGCCACCAGGAGGCCATCAAAAAATGAAGAAGAGGAAAAGAAAAGATACCGCATTTTAAATTTTGGGGCCCCTCCTAGAATGAAAATGACAAGGCCTCGGGTCTGGTTGGCTGAAGGATGTAGAGAATGGGCTTTGAGGGACTCAGCCCTGATGGCGCAGCTGCTCCGCACTGGCTCACCCTTGTACTTGCTTTGCTCTCATCCCCAGAATACACCAGTGGGGACGCCCATCTTCATCGTGAATGCCACAGACCCCGACTTGGGGGCAGGGGGCAGCGTCCTCTACTCCTTCCAGCCCCCCTCCCAATTCTTCGCCATTGACAGCGCCCGCGGTATCGTCACAGTGATCCGGGAGCTGGACTACGAGACCACACAGGCCTACCAGCTCACGGTCAACGCCACAGTGAGTCTCCATGCTGGGGCCCCGGCCGTCCCAGCTGCCTCTTCCCACCCTGGAAGAGAGTGACGGGGCATTCCAATGGGACATTGACCCAGTGGCACACACTCGATGATCTATAATAATTATAGTGGTGACAGTCATGATAGAAATGAGGCTGGCATTACTGAGGCTTTGTGCTGTGTCCCTGGCACCGTGCTGAGCACTCAAAGGGACTTTAAACCTCAAGCAGCCCCGTGTCATAAGTATTGTTAAGATGCCCACTTTGCAGATGAGAAAACTGAGGCACAGGAGCAATTCAGTGACTTTCCATGGTCACCCAGGAGCCCGACTCCATAGCCTGCTCGGGTAACTTCCTTGAGACATTCTTAGTGCAGAGTGCCTCTTGCTCTCTGGGACACAGGACAGAGGTGTTCACCCAGCTGTGTCCTGACACCATCCAACCTGCAGGGCCCAAAGGAGTTCAGGCATCCTGCCTCTACTCCACAGAGTGGTGACATTCCACATCATCCCTCTGTGCCAAGCACATTGCTGGCCCCTGGGAATTCCAGGATGAGTGAGTCAAGGGCAGAAGGCAGGAGAGGGTAATTATCCCATCTGATGGCTGACTCTGTTGAGGGTCACACAGCCCATGAGTAGTGGCGGAGCAAGAACCCAAACCAGGTTGTCCACCTCTCAGTCCAGTGCCCTGACCACCATGCCCCATGGCTAGACATCTCCAGGTCTCAAGAACATCGCAGCATGCCCTTTGTGCCAGCTGTTTGGGAGATCCTGGGGAACAGGCAAGCCACACTCTAAATAGGGTCCTCCCCCTACCCGCCCCCTCTCCTTGCTCCCAGCTGCTGCCTCAGGGCATAGCTGGAGCCATCAGCTGGCAGCAGGGCCGTAAGCTGGCCTGTTGTCCCTTAGATTCTGTTGACAAAGCTTACGCCAAGAGCAAAAAAACATGGGAGTCCCTCTCAACCCTCCAGGTCCTATCTGCCTGACACTCAGCATCCACTCCTGACCCACATAGCTGTCAAGGGGCCTGCCGGCAGCGCTGGGGGGCTCTCCTTGGTAGGTCACAGGCTCTAGATCCAAGGCTCTGGATCTGGACTGGGTCCAGAATCCAGTTTTGAAAGATGGGGTGCCCCCAGACTTGGCCAAGATGCAGAGAGAGGCCTCAAGACCCAGGAAATGCGAACTTCTTGTTTGGCCCTGGCCCAGTGGCTGTGGGGAGGTCACTGCAGGTGACACTCACGTTCTTTCCTTCTCCCCTGTTTAAGTGTTAGTTGCCTGGGAGGAGCTGTGTGCTGCTGTTTGTAAAACTGACCTCAGAGGTCAAGGGGACATGCAAGCCCAGGATTTGCTTTTTGTGCACATTTGCCTGCACCTTCCATGCAGCCTGGCACCCACACATGCGCTGCCCCTCCACCGCACTGTTTGCACACACCAGGGCCCAGAAACACGCAGATGCTTGCCCGCTGTGGGATAATTTCCACCCACCATAAAAATGGCTTTGGACCGTGGGGAATAGACCAGAGCTGGGCACAGGCAAGAATCTGGGTGGCGGGGCCTATCAAGAGGACTGGGCTCAAGCTGGGATGATGAATACAGTTAAATTGCTGTTACTCTCCCAGTAATCAGGCTTGGAAGCAGCAGAACAGGAGGGGCCCTAGAAGTCCCTCTCTAGATGGCTTCTCCCTTGCTTCTGGAGGAGCTGACACCGAGTCCTTCTCGGGGCTGGTGCTGTGCCCTTGGCTGCTGAGCACTTCCCCAAGGAAGGAGATTCTCGGCCTGGCATTGCGGGCAACAGTGTCAGTTCCCAGCCACCACTGAGCTGGTACCAGGATGGGGAAATTGAGGCATCCTCTGGGAACAAGCTGCTGAGAGCCATGGGCCCCAGAGTTACAGCTGGGAGCCTGACAGGATCA
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CTACCCTGTTTCCTGTTGTTGTTGTTGTTGTTAAATATTTGGTAGAATTCACCAGTGAAGCTGTTGAGTCCTGTGCTTTTCTTTGTTGGAAGATTTTTGATTACCGAATCAAATAAACATAAAAGCATAATGTTGAATTAAAAAGCAAGCTTCAGAGTGATCTATTGTATATGAAAACCATCTATTTACAAATACCCACAAAACAGTATCTTATATTATTCATGGCTAGATATAGATACATATGAAGTACAAAAGCAGACTTTCACACAGGGGGCTGGCAGCTCTGAAATCAGAATGTGGCCCTCCTTTCTTGTGGCAGGAGCCGTGGGCCCCCATGAAGTGTTTCGTTCTGGATTCATGGGACTGGCTCTGGCACTTCTGTGTGATCTAGAAAGAGAGAGGGCAGGACAGAGAACTGTGGGTTAGCTGAGAACCTCAGAAAGATCTCCTTAAGGTGGGGGAGGGGTGGTGGAAATAAGGGATGCTAAGGTACCCAGGGCTTAGCAACAGGGGAAAGTTCTACCCCTAGGGCTGAAGGGAAAGGAGACGAAAATTGTATTATCAGAGCCCACTGAGAGTTGGGGCCATGGAAGAGAGCCTGCTGGGGTAGAGCTGGAGGGGGTAGAGGAAGTAAGACCCCAAACTCTTTCTCTTCCTGCTCTGGGAGCTCCTACCAGAACTTCCCATTGGCAGAATCCAGCTGGAAGCCAGCCAGCAAGAGAGCCTGGAGATGCAATCCATTGAGAGCCCGGGGATTGGGGAAAGGCAGAACTGGGTGGATCATGGTGCCAGGGGAGTGGGTAGACAGGGAATGCCCTGGATGGTACTGTTAATATCAGTGCTTCTTGACACCTCCCTGCCCCACCCTTGAAGGTGCCCTTGTCTGTGCCCCTCTAGGTTTCCAGAAATTAAAATTGCAACTACTGTCTTCTCAGCACTTATGTGCTAGAATGTTTACACTCATGATCTTATGTATTCTTCACACTAACCCTGTGAGATATGATTAGCTTCAGTGTACAGTGAAGGGATTAAGGATCAGAGAGATTATGTAATTAACCCAAAGACACACAACAAGGCTGGGATTCCAACAAATGGTCTGTCCATCCCTGAAACTCTAGCACTTGTCTGCTTTGCCCCCTTGCAGACTTGATTCTGTTTTGGAGGGAATGAGCATCTTCCAAGCAGCTGAATTAGGATAGGCAAACCTAGCAAAGGAAAAGCACATTCAGACAGCCAGAGGTGTGAGGGAGCCTGCTGGGTTCAAGAAGTATAAATAGCTCCATGCCTCCAGGAAATAAAATGTGAAGGGGGAGACGGGAATGGACCACAAGGGCCTGTGTTCTATGCAAAGGGCACTGGGGAGTCACGGATGGTGAGGAGGAGAGGGGCGCCCTGCATCTGCCTCCTGTCCCCAGTGGACAGAGTGGTTGGAACAGGCAGGACGTGAGCCTGCCCATTCAGGTTGACACTTGTCTGCTGATGGGGGCAAATCCACAAACCCAGGAAGAACCCTCAGCAGCCCCATCCATTGTTCTCCGGAGGCCCTTTCCAGCCTGACCAGGGGCCCCGTAAAGAGCACCCCTGTGTTAAGTGCATGGTCTGTCTGTGAAGGGCTGCCAGGAGGGAGGCTTGAGGCTGGTCCCCAAAAAGGAAGCCTGCAGCTTGGGCAGCCAAGGAGCATTTGACAGAGGAAGCGAAACCACCAAGAAACAGGTTTGGGGACCGTAAGACCCCTCATCCAGAACTCTAGGTTAAGCAAATCATCTTTGGAACTGGTGCTCTTTACAGCCACCAGGAGGCCATCAAAAAATGAAGAAGAGGAAAAGAAAAGATACCGCATTTTAAATTTTGGGGCCCCTCCTAGAATGAAAATGACAAGGCCTCGGGTCTGGTTGGCTGAAGGATGTAGAGAATGGGCTTTGAGGGACTCAGCCCTGATGGCGCAGCTGCTCCGCACTGGCTCACCCTTGTACTTGCTTTGCTCTCATCCCCAGAATACACCAGTGGGGACGCCCATCTTCATCGTGAATGCCACAGACCCCGACTTGAGGGCAGGGGGCAGCGTCCTCTACTCCTTCCAGCCCCCCTCCCAATTCTTCGCCATTGACAGCGCCCGCGGTATCGTCACAGTGATCCGGGAGCTGGACTACGAGACCACACAGGCCTACCAGCTCACGGTCAACGCCACAGTGAGTCTCCATGCTGGGGCCCCGGCCGTCCCAGCTGCCTCTTCCCACCCTGGAAGAGAGTGACGGGGCATTCCAATGGGACATTGACCCAGTGGCACACACTCGATGATCTATAATAATTATAGTGGTGACAGTCATGATAGAAATGAGGCTGGCATTACTGAGGCTTTGTGCTGTGTCCCTGGCACCGTGCTGAGCACTCAAAGGGACTTTAAACCTCAAGCAGCCCCGTGTCATAAGTATTGTTAAGATGCCCACTTTGCAGATGAGAAAACTGAGGCACAGGAGCAATTCAGTGACTTTCCATGGTCACCCAGGAGCCCGACTCCATAGCCTGCTCGGGTAACTTCCTTGAGACATTCTTAGTGCAGAGTGCCTCTTGCTCTCTGGGACACAGGACAGAGGTGTTCACCCAGCTGTGTCCTGACACCATCCAACCTGCAGGGCCCAAAGGAGTTCAGGCATCCTGCCTCTACTCCACAGAGTGGTGACATTCCACATCATCCCTCTGTGCCAAGCACATTGCTGGCCCCTGGGAATTCCAGGATGAGTGAGTCAAGGGCAGAAGGCAGGAGAGGGTAATTATCCCATCTGATGGCTGACTCTGTTGAGGGTCACACAGCCCATGAGTAGTGGCGGAGCAAGAACCCAAACCAGGTTGTCCACCTCTCAGTCCAGTGCCCTGACCACCATGCCCCATGGCTAGACATCTCCAGGTCTCAAGAACATCGCAGCATGCCCTTTGTGCCAGCTGTTTGGGAGATCCTGGGGAACAGGCAAGCCACACTCTAAATAGGGTCCTCCCCCTACCCGCCCCCTCTCCTTGCTCCCAGCTGCTGCCTCAGGGCATAGCTGGAGCCATCAGCTGGCAGCAGGGCCGTAAGCTGGCCTGTTGTCCCTTAGATTCTGTTGACAAAGCTTACGCCAAGAGCAAAAAAACATGGGAGTCCCTCTCAACCCTCCAGGTCCTATCTGCCTGACACTCAGCATCCACTCCTGACCCACATAGCTGTCAAGGGGCCTGCCGGCAGCGCTGGGGGGCTCTCCTTGGTAGGTCACAGGCTCTAGATCCAAGGCTCTGGATCTGGACTGGGTCCAGAATCCAGTTTTGAAAGATGGGGTGCCCCCAGACTTGGCCAAGATGCAGAGAGAGGCCTCAAGACCCAGGAAATGCGAACTTCTTGTTTGGCCCTGGCCCAGTGGCTGTGGGGAGGTCACTGCAGGTGACACTCACGTTCTTTCCTTCTCCCCTGTTTAAGTGTTAGTTGCCTGGGAGGAGCTGTGTGCTGCTGTTTGTAAAACTGACCTCAGAGGTCAAGGGGACATGCAAGCCCAGGATTTGCTTTTTGTGCACATTTGCCTGCACCTTCCATGCAGCCTGGCACCCACACATGCGCTGCCCCTCCACCGCACTGTTTGCACACACCAGGGCCCAGAAACACGCAGATGCTTGCCCGCTGTGGGATAATTTCCACCCACCATAAAAATGGCTTTGGACCGTGGGGAATAGACCAGAGCTGGGCACAGGCAAGAATCTGGGTGGCGGGGCCTATCAAGAGGACTGGGCTCAAGCTGGGATGATGAATACAGTTAAATTGCTGTTACTCTCCCAGTAATCAGGCTTGGAAGCAGCAGAACAGGAGGGGCCCTAGAAGTCCCTCTCTAGATGGCTTCTCCCTTGCTTCTGGAGGAGCTGACACCGAGTCCTTCTCGGGGCTGGTGCTGTGCCCTTGGCTGCTGAGCACTTCCCCAAGGAAGGAGATTCTCGGCCTGGCATTGCGGGCAACAGTGTCAGTTCCCAGCCACCACTGAGCTGGTACCAGGATGGGGAAATTGAGGCATCCTCTGGGAACAAGCTGCTGAGAGCCATGGGCCCCAGAGTTACAGCTGGGAGCCTGACAGGATCA
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Task1_train_14013
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A change on Chromosome 10 affects gene CDH23 (cadherin related 23). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Nonsyndromic genetic hearing loss
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CAGGATCACTCCCCTTTCCCCACCACAGAGTCCAGAGTGGGCTGGGCAGGGGCATTTGTGGCATGAACAGGACTGCAGTCACAGGTATGGGACAGAGAGGGCCTGTGCCAGGCTAGACAAAAGCCAGCTGCCTGCAAAAGCCTGGTTATGGCAAATCAGAGCCACTGGCATCCCCTGTCCAAGAGGTCAGGGGACTTGTTTTGAGCTTCCCCGCTCCAGCCCTGGGTGCCTGGTGGTCATTCAGGTCCCTAGCTGGGAGCTCTCCCCATGGGCAGTGCCCAAGCCTGCCGTGTGGGCCCCAGTCCTGGAGCCTGGGAGGCTGCCTGCCGAGAACCTCTCTGCTCACCTCCTGCTTCCAGACCTTCCTCTCCCTTGCAGCACCCACTCCCATCCCTAAAGGCCCTCCCACCCTCTCATTGGCTGTCCCTGAGGATTCCTAAAGACAACCAGCCCTCCCTTCTCCTAGGCACAGCAGCTCCATCTCTGCAGGCCAGGAGGAGGCACCAGGCTTCTTGGAACTCCAGGAATGCCTTGCTTCATTCAAGTCACCCCAGACAAACTAAGGGAGAGCTAACCTGGGGACAGTCGCTCCTCAAATCTTAGCTCAGAGAATGTTCGAGCCTGAGGGGCCTTAGAAGTCATTCACTTGAGCCCCTTCATCTCACAGAAAAGGACATCAGATTCCCAGGGGGAAAAAGAACTCATTTGAGGTTACTCAGCAAATTAAGAGACCGAACTGATGTTAGAGCCCCAAGTCAAAACTGTTAGTGGCAAATTTTTATGTGAAAGGATCTGAGTTTGAGTTCTGGCTACACACTTAGAAGTTGTATGACTGTGGACAAGTTACTCAGCCTCTCTGAGTCTCTGTTAACTCATCTGAATAATGGGCTCATCATAACTACAGATGCGAGTGAAGTGCCCGGTAGAGTGGCTGCCACGTCATCTGTACAAAGCACTGCAGTTACTATTATTGCTGGCTATTGTTATTCAGTTGCAGCAGGCTACTTAAACAGTAGAAGATAGATTTGGAGTTTTCTTTCTTGCCAAGCATTAAAAAAAAATTTTTTTTTTGAGATGGGGGTCTCGCTATGTTGTCCAGGCTGGAGTGCAGTGGCTATTCACAGGTGCAATCTTGGTGCACAACAGCCTCGAACTCCTGGGCTCAAGTGATTGCCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGATGCATCGTTGAGGTTTTATACAATGAAATTCCCAACTGACGGTTTAAATATTGCTTGCCTGGCTGCAGGGGGATGGCCTGTGTGACCTCTCAGGAGTCTTTCTCGGAGTCCCCCAGATGTCACAGACCCTGGAGCTCCCCCTGCTGGTTGGATTGGGAAAAGTCACTGAACCAGTAAATCCCCAGCCCAAAGCAAGGGACTCATGAATGCAGGGACACAGGTGCCAGATTAATCCCCTCTGTGGCCTTTCTTCTGAGGAGTCCCCATCTTTGTCAATCCTCTGCTGCCCTGGGATGAGTGGGGGCAGGAAGTGGGCACAGAGAGGGGTGGTGACCTCCAGCTGAACTCAGCAAAGGAGCTGAGGGCAGCACCATATCTACTCCAAGCTGGTCATCCCACCACCGGATGTCCAAGGAAGTCAGGCCTGGGCTACTAGGGGCTGGAGGTCTAGCTGTACCCCAGCCCTGCTTTGTAACACTGGATAAGCTGCCTTCCTCTGGACCTTGGGGATGCTGTTTGTGTTTTCCTGTACAGCTCAGAAATCACCATGGCTTCTTAGAATTCTTAAGCTTCCTTTTACTAAGCCCTTCCCTGCTGGAGTGCAAGAGCATGGGTGTGTGTGTGCGTGTGCATGTGTTTGCACTTATGTGCTGCACGGTGCAGGTCTGTGTGTGTGTGTACATATGTGTGTGAGTGTCCCCACCATCACTCAACCTAAGGCTGTGTGTTCTCTCCGCTCTCTAAGGATCAAGACAAGACCAGGCCTCTGTCCACCCTGGCCAACTTGGCCATCATCATCACAGATGTCCAGGACATGGACCCCATCTTCATCAACCTGCCTTACAGCACCAACATCTACGAGCATTCTCCTCCGGTAAGACTCCTGGCCCTTCCTTCTCAGAAGTCCCTTCTCAGAGGGACTTCCTTCTGAGCTCCTGTTAGGGATGGGCCCTGTTAGTGGGCTGGGCTCCTCCTTGGCTCCTCCGCAGTCCCTGTGCGTGGCAGTGATGAGTGTTCTGGCACAGCGAAACCCCAGCCACTCTTCACACCACGCCCATCTCCTCACCCTCTCACTCTACCCAAGGGGCTCTGTGTGGCAAAGAACAAAGGCTTCCAGGGCAAGTAACGGGGAGCCATTCAGACAGACTTATGTGGAGGGATGGGGATCCCATGGAAAATTCAGCCTGTGCTGAAGAATGGACTCAGTCTGGCTCCACAGAACATCAGTGTGGCTCAGCCGTGTCTCTGCCGTGTCAGTCTGTCCCTCTCTGCTGATGAGCACTGCCAGAGAGGGTGGCAGCTGCCCTTCTTCAAGGGTCCTCTTGGCCCCGGCTCTTCCCTGCGAGCTTGCAGCTCCTTCTGCCCTCCCTAATGCCCAGTCTTTGGATTTCTTAAGTCCAGGTTTCCAAGAAAGGCTCCTGATTTTTCTGGTGTGTTGCAAGGTCATAGGTCACCAGCCTGTAGATCGGCTACCCATGGGTGTCTTAGAGGACAAAACATGCCTCGGCCCACTCTGCAAGGCTGTGGATGGAGCAGCTTTGCTCAGCTGTGGGCCAGACGGGCAACGGCAGCCATCTCTAGTCTCATAACCATTCGTGCGTCTGTGCAAACTTGAATGCAACACCGGCTGTGGGTGGAAAAATTAGAAAAATGCGCCTCCCCTAGGCAGTCACAATCCCTGGTCATTAGCTTAGGGAACAGCGTTTGGGGAAAGAAAAATGAGCCCCTTCTTTTGAGAGAACTCAGTGTGCTTAAAGGAAGGACTCAGCTTTGGGAGCAAAGTGGGGCACCCGCCTAAGGCTCGTGAGCGTTCAGGGCCCCACCCGCACCCCTGCACAGGCTCACAGAATTGAGTGTGACAGGTGAGCTTCCCTTGACTGGGGTGCAGGCTGTGCTCCTGGGCCTGACCCCTCATTTGGAGACCATGGCTGCCCTGGCCACTGGCCTCCCTTCACAGCATGAGGCCGCAGTCTCCTGGTGTATGGGGCTGGCATTTGGCCACTTCCTTCTTGGGACAGGTGTGGAGGGAGGCTCTAAGAAGCAGGATCCTTTCCGGCCTGCTACTGTTGAGTGTTTGAAGCTGCTTTGAGAGTAGAGGGGGACAGATCAATGCCCCCAATTCCCCAGCCTTCTCTTTCTTAGCATTCCGTGGGCAGTGGGAGCCCCTGCTTTTGAGACTGAAGGCTGTCTCTTCTCAGCACAGCCCAGCCCATTTCCCATGACTTTCCTAGCCCCTTTTCTCTCTGCCCCTAGCCCAACTTTGCCAGGCCGATACCTTCTCAGCATCAGGTCAGCTGTGACGTGCTGTTTTCAGATGAGGCAGGGCCCACAATCTGCCCATGGCCCCTGGACATCTCCTGAGTGGTCAGCACTCTTGAACAACTTGCCCCACCTCTGCTCCCCTGAAGGACTGGAAGCGTGCAGTTCAGCAGGGACAGGGTCTGCTGTGGGCATAACATACAGTGTGTGCTCAGGAGATGGTAATGGAATGGATAAATGAACAAGCACCCTCACCCTGGGCAGACCAGCATACTCACCATCCTGCACCCTCTCCGCCCCTGTGCCTGCTCTTGTCGCCAGCCCAAAGTCCACCCACCCATTTGTTCCCAGTTCACTCTCTACCTTTCTTATAATTTTTTCCCTGGCTTCTTCCCTATCCGTCCCAGAGATAGCAACTCCTCTCCCTCAACCCTGGTAGAATTAACTCTCTCTATGCTGTGTAATTTTCCACTTAATTATAGTCTCGCCTGTAATGTTACCTATATATGTGGGTTACTTCTGAGCCCCCAGTAATCAAGGTACCTGAGTCTCTGGGACATGATCTCATCCTTCCTTTGGGTCTCCAGGGCATCATGCCCAGAGCTAAGTGCAGGGAAGATGCCCAAGG
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CAGGATCACTCCCCTTTCCCCACCACAGAGTCCAGAGTGGGCTGGGCAGGGGCATTTGTGGCATGAACAGGACTGCAGTCACAGGTATGGGACAGAGAGGGCCTGTGCCAGGCTAGACAAAAGCCAGCTGCCTGCAAAAGCCTGGTTATGGCAAATCAGAGCCACTGGCATCCCCTGTCCAAGAGGTCAGGGGACTTGTTTTGAGCTTCCCCGCTCCAGCCCTGGGTGCCTGGTGGTCATTCAGGTCCCTAGCTGGGAGCTCTCCCCATGGGCAGTGCCCAAGCCTGCCGTGTGGGCCCCAGTCCTGGAGCCTGGGAGGCTGCCTGCCGAGAACCTCTCTGCTCACCTCCTGCTTCCAGACCTTCCTCTCCCTTGCAGCACCCACTCCCATCCCTAAAGGCCCTCCCACCCTCTCATTGGCTGTCCCTGAGGATTCCTAAAGACAACCAGCCCTCCCTTCTCCTAGGCACAGCAGCTCCATCTCTGCAGGCCAGGAGGAGGCACCAGGCTTCTTGGAACTCCAGGAATGCCTTGCTTCATTCAAGTCACCCCAGACAAACTAAGGGAGAGCTAACCTGGGGACAGTCGCTCCTCAAATCTTAGCTCAGAGAATGTTCGAGCCTGAGGGGCCTTAGAAGTCATTCACTTGAGCCCCTTCATCTCACAGAAAAGGACATCAGATTCCCAGGGGGAAAAAGAACTCATTTGAGGTTACTCAGCAAATTAAGAGACCGAACTGATGTTAGAGCCCCAAGTCAAAACTGTTAGTGGCAAATTTTTATGTGAAAGGATCTGAGTTTGAGTTCTGGCTACACACTTAGAAGTTGTATGACTGTGGACAAGTTACTCAGCCTCTCTGAGTCTCTGTTAACTCATCTGAATAATGGGCTCATCATAACTACAGATGCGAGTGAAGTGCCCGGTAGAGTGGCTGCCACGTCATCTGTACAAAGCACTGCAGTTACTATTATTGCTGGCTATTGTTATTCAGTTGCAGCAGGCTACTTAAACAGTAGAAGATAGATTTGGAGTTTTCTTTCTTGCCAAGCATTAAAAAAAAATTTTTTTTTTGAGATGGGGGTCTCGCTATGTTGTCCAGGCTGGAGTGCAGTGGCTATTCACAGGTGCAATCTTGGTGCACAACAGCCTCGAACTCCTGGGCTCAAGTGATTGCCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGATGCATCGTTGAGGTTTTATACAATGAAATTCCCAACTGACGGTTTAAATATTGCTTGCCTGGCTGCAGGGGGATGGCCTGTGTGACCTCTCAGGAGTCTTTCTCGGAGTCCCCCAGATGTCACAGACCCTGGAGCTCCCCCTGCTGGTTGGATTGGGAAAAGTCACTGAACCAGTAAATCCCCAGCCCAAAGCAAGGGACTCATGAATGCAGGGACACAGGTGCCAGATTAATCCCCTCTGTGGCCTTTCTTCTGAGGAGTCCCCATCTTTGTCAATCCTCTGCTGCCCTGGGATGAGTGGGGGCAGGAAGTGGGCACAGAGAGGGGTGGTGACCTCCAGCTGAACTCAGCAAAGGAGCTGAGGGCAGCACCATATCTACTCCAAGCTGGTCATCCCACCACCGGATGTCCAAGGAAGTCAGGCCTGGGCTACTAGGGGCTGGAGGTCTAGCTGTACCCCAGCCCTGCTTTGTAACACTGGATAAGCTGCCTTCCTCTGGACCTTGGGGATGCTGTTTGTGTTTTCCTGTACAGCTCAGAAATCACCATGGCTTCTTAGAATTCTTAAGCTTCCTTTTACTAAGCCCTTCCCTGCTGGAGTGCAAGAGCATGGGTGTGTGTGTGCGTGTGCATGTGTTTGCACTTATGTGCTGCACGGTGCAGGTCTGTGTGTGTGTGTACATATGTGTGTGAGTGTCCCCACCATCACTCAACCTAAGGCTGTGTGTTCTCTCCGCTCTCTAAGGATCAAGACAAGACCAGGCCTCTGTCCACCCTGGCCAACTTGGCCATCATCATCACAGATGTCCAGGACATGGACCCCATCTTCATCAACCTGCTTTACAGCACCAACATCTACGAGCATTCTCCTCCGGTAAGACTCCTGGCCCTTCCTTCTCAGAAGTCCCTTCTCAGAGGGACTTCCTTCTGAGCTCCTGTTAGGGATGGGCCCTGTTAGTGGGCTGGGCTCCTCCTTGGCTCCTCCGCAGTCCCTGTGCGTGGCAGTGATGAGTGTTCTGGCACAGCGAAACCCCAGCCACTCTTCACACCACGCCCATCTCCTCACCCTCTCACTCTACCCAAGGGGCTCTGTGTGGCAAAGAACAAAGGCTTCCAGGGCAAGTAACGGGGAGCCATTCAGACAGACTTATGTGGAGGGATGGGGATCCCATGGAAAATTCAGCCTGTGCTGAAGAATGGACTCAGTCTGGCTCCACAGAACATCAGTGTGGCTCAGCCGTGTCTCTGCCGTGTCAGTCTGTCCCTCTCTGCTGATGAGCACTGCCAGAGAGGGTGGCAGCTGCCCTTCTTCAAGGGTCCTCTTGGCCCCGGCTCTTCCCTGCGAGCTTGCAGCTCCTTCTGCCCTCCCTAATGCCCAGTCTTTGGATTTCTTAAGTCCAGGTTTCCAAGAAAGGCTCCTGATTTTTCTGGTGTGTTGCAAGGTCATAGGTCACCAGCCTGTAGATCGGCTACCCATGGGTGTCTTAGAGGACAAAACATGCCTCGGCCCACTCTGCAAGGCTGTGGATGGAGCAGCTTTGCTCAGCTGTGGGCCAGACGGGCAACGGCAGCCATCTCTAGTCTCATAACCATTCGTGCGTCTGTGCAAACTTGAATGCAACACCGGCTGTGGGTGGAAAAATTAGAAAAATGCGCCTCCCCTAGGCAGTCACAATCCCTGGTCATTAGCTTAGGGAACAGCGTTTGGGGAAAGAAAAATGAGCCCCTTCTTTTGAGAGAACTCAGTGTGCTTAAAGGAAGGACTCAGCTTTGGGAGCAAAGTGGGGCACCCGCCTAAGGCTCGTGAGCGTTCAGGGCCCCACCCGCACCCCTGCACAGGCTCACAGAATTGAGTGTGACAGGTGAGCTTCCCTTGACTGGGGTGCAGGCTGTGCTCCTGGGCCTGACCCCTCATTTGGAGACCATGGCTGCCCTGGCCACTGGCCTCCCTTCACAGCATGAGGCCGCAGTCTCCTGGTGTATGGGGCTGGCATTTGGCCACTTCCTTCTTGGGACAGGTGTGGAGGGAGGCTCTAAGAAGCAGGATCCTTTCCGGCCTGCTACTGTTGAGTGTTTGAAGCTGCTTTGAGAGTAGAGGGGGACAGATCAATGCCCCCAATTCCCCAGCCTTCTCTTTCTTAGCATTCCGTGGGCAGTGGGAGCCCCTGCTTTTGAGACTGAAGGCTGTCTCTTCTCAGCACAGCCCAGCCCATTTCCCATGACTTTCCTAGCCCCTTTTCTCTCTGCCCCTAGCCCAACTTTGCCAGGCCGATACCTTCTCAGCATCAGGTCAGCTGTGACGTGCTGTTTTCAGATGAGGCAGGGCCCACAATCTGCCCATGGCCCCTGGACATCTCCTGAGTGGTCAGCACTCTTGAACAACTTGCCCCACCTCTGCTCCCCTGAAGGACTGGAAGCGTGCAGTTCAGCAGGGACAGGGTCTGCTGTGGGCATAACATACAGTGTGTGCTCAGGAGATGGTAATGGAATGGATAAATGAACAAGCACCCTCACCCTGGGCAGACCAGCATACTCACCATCCTGCACCCTCTCCGCCCCTGTGCCTGCTCTTGTCGCCAGCCCAAAGTCCACCCACCCATTTGTTCCCAGTTCACTCTCTACCTTTCTTATAATTTTTTCCCTGGCTTCTTCCCTATCCGTCCCAGAGATAGCAACTCCTCTCCCTCAACCCTGGTAGAATTAACTCTCTCTATGCTGTGTAATTTTCCACTTAATTATAGTCTCGCCTGTAATGTTACCTATATATGTGGGTTACTTCTGAGCCCCCAGTAATCAAGGTACCTGAGTCTCTGGGACATGATCTCATCCTTCCTTTGGGTCTCCAGGGCATCATGCCCAGAGCTAAGTGCAGGGAAGATGCCCAAGG
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Task1_train_14014
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This genomic variant is located on Chromosome 10, within the CDH23 (cadherin related 23) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Pituitary adenoma 5, multiple types
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TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGACGGGACGCATTCCACACCAGGGAGCGCTGCAACCTCCACAGCCTGACAGGCCCAGAGGAGCCTTGCCCCCACATCCCCTGGGGAGCCACTTTGGGCTGGGGCTCTGGAGCCCCGCGGCTTGCCTGGACCCCAGAATTGGCAAGAGAGGGCTTAGGGAGCTCAGCTTCCACCTCTCCATCCAAACCTCTGTGCCAGTAACAGGGCACAGGCCTGTCTCCAGGCTTTAAGAAAAGTCTAAATGCAGCAAGTGTATTTGCCAGTTTGCTAAAATGGGAAAAACCCAAGAGACTGATGGGTAAACGTTAGCATGCATTCATTCCACAAGTGCCTTTGAGCATTTAGGGGGCAGCCCCAGGGGCCCATGAATCTTGTGAACTCTCAGGCTTCACTGGGGGTATCACTTCCTGATCATTCCCCCTCTGCCCTGAGCGGGATGGGAACCAGCCTTGCAGGGACTATCCCCTTAGACCACGGAGAGTCTTTGGGGCCAGGGTGACCTCGCAGCCACCCTCTCACCAGGAACAGGTTTCTAAGAGGAGTCCCACAACATACCCTAAGCAACCAAGATGTGAGGGTGGGCTTCCCTTGCCAGCCACTGGTTCAAGAGAAAAGGGCCCATGTGCCAAGCTGGCCACTGGGCTAGGGGTGGGCTCTGCACCATAAGCCAGAGCCTCTGCCTCTGGACTGAAAGCCAAGGTCAGTGACCTACTGGGCACCTGCAAGAGAGGTCAGAAGGAGGCTCTTACACATCACAGGCCGCCTGCCCAGTTGGAGGGGAGTCTGGGGGCGCAGGTGATCCCCTTGCCCCAAGTGCAGGCAGGAAGAGGAAGTAGAATCACTTTCTGAGCAGGCCAGACCTCAGGGAGTCAGTAAGCTGAATCTCCCACCTTCAGCCATGTCTCCTCCCCATGATCTGGAGACTTCAGTCACATCACATGCTTTCTGTGAGGAGAGTCAGGTAGCATCTGAGGGGCTCTGTGAGCCACAGCCCTGGTTAGAATAATCAGAAATGCCTGAACTTGAGTGAGGCACCCACCTCCCTGAAATGATGGGCTTGGGCCTCTGGGACACAGCAGAACCTGTGATGGGGTGGCCACCCTGTGCTCAGTCTGGGATCCTGGGCCCCCCGGGACTGGCAACAGTGTGGGATCCCTGGCCATTCACATTGCCACTCAGTCTCTGGGTTATTCCCATTTCACATGTCAGCAAACCAGTGTTCTCCCTGCTGGACACGTTCCAGAGGAGGAGGGGAAGAACAGCATCTGCATCCCTTGTGTCCTCTCCTGGCCAAGCCTGTCATGGCCGCTTAACTGCTTCTCTTCTCTCCACTCCCCTCACATCCTCTCTCCTCCTCCTTCCTCTGTCTCCCCGCTGGGTCTTGCAGCTGGCCGGTCCCTCCGCAGCTGGGGTCACTGGGACAGAGAAAGGGAGCAGGAAATGGAGAGTGAACCAAACCACCTGAAGGGGACACTGTGGGCATCCGACAGCACAAGGAAGGAAAAGAGAGCCAGAGGAGGTTTCCAGAGGGCCTAGACATGGGTGGGTCATGGAGTCTTGGAGCTGCTCTGGGAAAGCCCTGCTCTGTCCCAGCGCCTCATCCATTGCCCCAACCAAAGCAGCTCTGGGCTCACTCTCCAGGAGCCTCTGCTCCTCCATTTGGGTCTAGGCTTTGGCCACTGTGCCCTTCCTGACTGGCTTCTTCTGCACTCTTGACCCAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTGGGGAACAACTCCCACCACTTCATCATCTCCCCGACCTCCGTCCAGGGGAAGGCGGACATTCGTATTCGGGTGGCCATCCCACTGGACTACGAGACCGTGGACCGCTACGACTTTGATGTAAGGCCCCACTCACTGGCATTTTGGAGTGGGGTGGGGGGTGGATTTCAGGGGAGGCGAGGGTAGGGTAGAAGATTCCCTTAGATCCCACCTTCCACTGCTGCCCATCTTCCCTTGTGGATCTGACTCAGATAAGCCCTCCAAGAGACGGCAGGGGCCGGGCTGAGTCTCCCTTTTCCAAGGAGGAAAAGGATATGTCCAGTAATTGAGTGGAATTTTACCAGACTCCCATCAGGAGCCTCTGCAACCCATCTCCTGCCAGATCAGCCCCTGCTAGCTCCTCCTGCCCTAGCAGAATCAGCAGCCATCCCTAGAGCAATAACAGACGGGCTCGCAGTAGCACAGAGCTGGGATGGGCAGAGACTCTAACAGGTGCTCTGGGCTGGGGCCGGCAAAGGCATGGAGAGGACTTACAGGGACAAGGACTCTGGGAGGGGACATGTGGGAGCTTACCTGGGCCCCTGTTCTGCACCCCCAGCTCTTTGCCAATGAGAGTGTGCCTGACCATGTGGGCTATGCCAAGGTGAAGATCACTCTCATCAATGAAAATGACAACCGGCCCATCTTCAGCCAGCCACTGTACAACATCAGCCTGTACGAGAACGTCACCGTGGGGACCTCTGTGCTGACAGTCCTGGTGAGTCCCCGCTTCACTGCAGGGCCACTGAGCTCTCCAGGGCCGACTGTGGTGAGGCACCCAGAGGGATTTTGTCCAAGGGACCTCAGCAATCAGGGAAGGAGGCACCCCCAAATCCCTGAGCTGTGTTTGTTGGTGTATTAAATAAAGTTTTTGGACTCTTCAGGAAGGGGCTCCCTTGACCTAGGTTGCAATATGGAAAAGGAGCCAACCTGAGGGGTGACGAGACTGAGCTGAGGACACTGGTTTTCTGCCTTTCCCCGAGAGAGACTCAGTGAGGGTGGGCTGGGAGCCCTGGAAGCCCCCTCAAATGGGTGGGAAGGTGCCAGCCATCCTTGAGAAGGGCAACCCTCTCCATGTGAGCACAGGCACCAGAGAGGGGCAGGCGCCTGGAGGGTACCGGGGCACCCCCAGCTGCCCATGGCTGGACTTGCCCTTTGACAAGGGGCCCTCCCAGTGTCATTTGTATCTGTCAGTACTCTTGGTTGCAAGGGACAGAAACCCTTAAGTAGTTCAAGCAAAAAAGGATTGGCTCATGTAACTCAAAAGTATAAGTGATTTCAGGCCGGGCTCGGTGGCTCACGCCTGTCATCCAACACCTTGAGAAAGCCGAGGTGGGCGGATCACTTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGTCACTGCCCTCCAGCCTGGGCGACAGAGCCAGATTCTGTCTCAAAAAAAAAAAAAGTGCAAGTGATTTCAGGCACGGCTGCATCCAAGCACTCAGTTGAGCAGGGATCTGTCTTCAACACTGGGCTCTGCTTTTTTGTATTGGCAAAGAGGGGCACCAGCACCTCTAGGCTGACTTCTTACCAATTTATCACCCCTAGTGGGAAAAGTTCTTTTGCAGTAATTCCAGCAGATTCTCATCGGCCCAGTTGGTTGTGTCATCCTGGAACCAATTGTGATTCTGGTATGCCGGGGAGGGATCACACTCCCCCTAGTGGACCCAGGGGTTGGGGTCAGCCCCGCCTGAATTACACCGTCTGAGAATGGGGAAGGGGCTTCTATTCTAAGACAAGGGATTGAATGCTAAGCAGATCCAAGTGGTAGATGTGTGCTACACAAGCTCAGAGTCTTGCCCAGTCGGTGCTCAATAAA
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TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGACGGGACGCATTCCACACCAGGGAGCGCTGCAACCTCCACAGCCTGACAGGCCCAGAGGAGCCTTGCCCCCACATCCCCTGGGGAGCCACTTTGGGCTGGGGCTCTGGAGCCCCGCGGCTTGCCTGGACCCCAGAATTGGCAAGAGAGGGCTTAGGGAGCTCAGCTTCCACCTCTCCATCCAAACCTCTGTGCCAGTAACAGGGCACAGGCCTGTCTCCAGGCTTTAAGAAAAGTCTAAATGCAGCAAGTGTATTTGCCAGTTTGCTAAAATGGGAAAAACCCAAGAGACTGATGGGTAAACGTTAGCATGCATTCATTCCACAAGTGCCTTTGAGCATTTAGGGGGCAGCCCCAGGGGCCCATGAATCTTGTGAACTCTCAGGCTTCACTGGGGGTATCACTTCCTGATCATTCCCCCTCTGCCCTGAGCGGGATGGGAACCAGCCTTGCAGGGACTATCCCCTTAGACCACGGAGAGTCTTTGGGGCCAGGGTGACCTCGCAGCCACCCTCTCACCAGGAACAGGTTTCTAAGAGGAGTCCCACAACATACCCTAAGCAACCAAGATGTGAGGGTGGGCTTCCCTTGCCAGCCACTGGTTCAAGAGAAAAGGGCCCATGTGCCAAGCTGGCCACTGGGCTAGGGGTGGGCTCTGCACCATAAGCCAGAGCCTCTGCCTCTGGACTGAAAGCCAAGGTCAGTGACCTACTGGGCACCTGCAAGAGAGGTCAGAAGGAGGCTCTTACACATCACAGGCCGCCTGCCCAGTTGGAGGGGAGTCTGGGGGCGCAGGTGATCCCCTTGCCCCAAGTGCAGGCAGGAAGAGGAAGTAGAATCACTTTCTGAGCAGGCCAGACCTCAGGGAGTCAGTAAGCTGAATCTCCCACCTTCAGCCATGTCTCCTCCCCATGATCTGGAGACTTCAGTCACATCACATGCTTTCTGTGAGGAGAGTCAGGTAGCATCTGAGGGGCTCTGTGAGCCACAGCCCTGGTTAGAATAATCAGAAATGCCTGAACTTGAGTGAGGCACCCACCTCCCTGAAATGATGGGCTTGGGCCTCTGGGACACAGCAGAACCTGTGATGGGGTGGCCACCCTGTGCTCAGTCTGGGATCCTGGGCCCCCCGGGACTGGCAACAGTGTGGGATCCCTGGCCATTCACATTGCCACTCAGTCTCTGGGTTATTCCCATTTCACATGTCAGCAAACCAGTGTTCTCCCTGCTGGACACGTTCCAGAGGAGGAGGGGAAGAACAGCATCTGCATCCCTTGTGTCCTCTCCTGGCCAAGCCTGTCATGGCCGCTTAACTGCTTCTCTTCTCTCCACTCCCCTCACATCCTCTCTCCTCCTCCTTCCTCTGTCTCCCCGCTGGGTCTTGCAGCTGGCCGGTCCCTCCGCAGCTGGGGTCACTGGGACAGAGAAAGGGAGCAGGAAATGGAGAGTGAACCAAACCACCTGAAGGGGACACTGTGGGCATCCGACAGCACAAGGAAGGAAAAGAGAGCCAGAGGAGGTTTCCAGAGGGCCTAGACATGGGTGGGTCATGGAGTCTTGGAGCTGCTCTGGGAAAGCCCTGCTCTGTCCCAGCGCCTCATCCATTGCCCCAACCAAAGCAGCTCTGGGCTCACTCTCCAGGAGCCTCTGCTCCTCCATTTGGGTCTAGGCTTTGGCCACTGTGCCCTTCCTGACTGGCTTCTTCTGCACTCTTGACCCAGGGCCTGAACAGAATGTTTGAGGTGTACTTGGTGGGGAACAACTCCCACCACTTCATCATCTCCCCGACCTCCGTCCAGGGGAAGGCGGACATTCGTATTCGGGTGGCCATCCCACTGGACTACGAGACCGTGGACCGCTACGACTTTGATGTAAGGCCCCACTCACTGGCATTTTGGAGTGGGGTGGGGGGTGGATTTCAGGGGAGGCGAGGGTAGGGTAGAAGATTCCCTTAGATCCCACCTTCCACTGCTGCCCATCTTCCCTTGTGGATCTGACTCAGATAAGCCCTCCAAGAGACGGCAGGGGCCGGGCTGAGTCTCCCTTTTCCAAGGAGGAAAAGGATATGTCCAGTAATTGAGTGGAATTTTACCAGACTCCCATCAGGAGCCTCTGCAACCCATCTCCTGCCAGATCAGCCCCTGCTAGCTCCTCCTGCCCTAGCAGAATCAGCAGCCATCCCTAGAGCAATAACAGACGGGCTCGCAGTAGCACAGAGCTGGGATGGGCAGAGACTCTAACAGGTGCTCTGGGCTGGGGCCGGCAAAGGCATGGAGAGGACTTACAGGGACAAGGACTCTGGGAGGGGACATGTGGGAGCTTACCTGGGCCCCTGTTCTGCACCCCCAGCTCTTTGCCAATGAGAGTGTGCCTGACCATGTGGGCTATGCCAAGGTGAAGATCACTCTCATCAATGAAAATGACAACCGGCCCATCTTCAGCCAGCCACTGTACAACATCAGCCTGTACGAGAACGTCACCGTGGGGACCTCTGTGCTGACAGTCCTGGTGAGTCCCCGCTTCACTGCAGGGCCACTGAGCTCTCCAGGGCCGACTGTGGTGAGGCACCCAGAGGGATTTTGTCCAAGGGACCTCAGCAATCAGGGAAGGAGGCACCCCCAAATCCCTGAGCTGTGTTTGTTGGTGTATTAAATAAAGTTTTTGGACTCTTCAGGAAGGGGCTCCCTTGACCTAGGTTGCAATATGGAAAAGGAGCCAACCTGAGGGGTGACGAGACTGAGCTGAGGACACTGGTTTTCTGCCTTTCCCCGAGAGAGACTCAGTGAGGGTGGGCTGGGAGCCCTGGAAGCCCCCTCAAATGGGTGGGAAGGTGCCAGCCATCCTTGAGAAGGGCAACCCTCTCCATGTGAGCACAGGCACCAGAGAGGGGCAGGCGCCTGGAGGGTACCGGGGCACCCCCAGCTGCCCATGGCTGGACTTGCCCTTTGACAAGGGGCCCTCCCAGTGTCATTTGTATCTGTCAGTACTCTTGGTTGCAAGGGACAGAAACCCTTAAGTAGTTCAAGCAAAAAAGGATTGGCTCATGTAACTCAAAAGTATAAGTGATTTCAGGCCGGGCTCGGTGGCTCACGCCTGTCATCCAACACCTTGAGAAAGCCGAGGTGGGCGGATCACTTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGTCACTGCCCTCCAGCCTGGGCGACAGAGCCAGATTCTGTCTCAAAAAAAAAAAAAGTGCAAGTGATTTCAGGCACGGCTGCATCCAAGCACTCAGTTGAGCAGGGATCTGTCTTCAACACTGGGCTCTGCTTTTTTGTATTGGCAAAGAGGGGCACCAGCACCTCTAGGCTGACTTCTTACCAATTTATCACCCCTAGTGGGAAAAGTTCTTTTGCAGTAATTCCAGCAGATTCTCATCGGCCCAGTTGGTTGTGTCATCCTGGAACCAATTGTGATTCTGGTATGCCGGGGAGGGATCACACTCCCCCTAGTGGACCCAGGGGTTGGGGTCAGCCCCGCCTGAATTACACCGTCTGAGAATGGGGAAGGGGCTTCTATTCTAAGACAAGGGATTGAATGCTAAGCAGATCCAAGTGGTAGATGTGTGCTACACAAGCTCAGAGTCTTGCCCAGTCGGTGCTCAATAAA
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Task1_train_14015
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With a mutation on Chromosome 10 in gene CDH23 (cadherin related 23), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 12
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TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGACGGGACGCATTCCACACCAGGGAGCGCTGCAACCTCCACAGCCTGACAGGCCCAGAGGAGCCTTGCCCCCACATCCCCTGGGGAGCCACTTTGGGCTGGGGCTCTGGAGCCCCGCGGCTTGCCTGGACCCCAGAATTGGCAAGAGAGGGCTTAGGGAGCTCAGCTTCCACCTCTCCATCCAAACCTCTGTGCCAGTAACAGGGCACAGGCCTGTCTCCAGGCTTTAAGAAAAGTCTAAATGCAGCAAGTGTATTTGCCAGTTTGCTAAAATGGGAAAAACCCAAGAGACTGATGGGTAAACGTTAGCATGCATTCATTCCACAAGTGCCTTTGAGCATTTAGGGGGCAGCCCCAGGGGCCCATGAATCTTGTGAACTCTCAGGCTTCACTGGGGGTATCACTTCCTGATCATTCCCCCTCTGCCCTGAGCGGGATGGGAACCAGCCTTGCAGGGACTATCCCCTTAGACCACGGAGAGTCTTTGGGGCCAGGGTGACCTCGCAGCCACCCTCTCACCAGGAACAGGTTTCTAAGAGGAGTCCCACAACATACCCTAAGCAACCAAGATGTGAGGGTGGGCTTCCCTTGCCAGCCACTGGTTCAAGAGAAAAGGGCCCATGTGCCAAGCTGGCCACTGGGCTAGGGGTGGGCTCTGCACCATAAGCCAGAGCCTCTGCCTCTGGACTGAAAGCCAAGGTCAGTGACCTACTGGGCACCTGCAAGAGAGGTCAGAAGGAGGCTCTTACACATCACAGGCCGCCTGCCCAGTTGGAGGGGAGTCTGGGGGCGCAGGTGATCCCCTTGCCCCAAGTGCAGGCAGGAAGAGGAAGTAGAATCACTTTCTGAGCAGGCCAGACCTCAGGGAGTCAGTAAGCTGAATCTCCCACCTTCAGCCATGTCTCCTCCCCATGATCTGGAGACTTCAGTCACATCACATGCTTTCTGTGAGGAGAGTCAGGTAGCATCTGAGGGGCTCTGTGAGCCACAGCCCTGGTTAGAATAATCAGAAATGCCTGAACTTGAGTGAGGCACCCACCTCCCTGAAATGATGGGCTTGGGCCTCTGGGACACAGCAGAACCTGTGATGGGGTGGCCACCCTGTGCTCAGTCTGGGATCCTGGGCCCCCCGGGACTGGCAACAGTGTGGGATCCCTGGCCATTCACATTGCCACTCAGTCTCTGGGTTATTCCCATTTCACATGTCAGCAAACCAGTGTTCTCCCTGCTGGACACGTTCCAGAGGAGGAGGGGAAGAACAGCATCTGCATCCCTTGTGTCCTCTCCTGGCCAAGCCTGTCATGGCCGCTTAACTGCTTCTCTTCTCTCCACTCCCCTCACATCCTCTCTCCTCCTCCTTCCTCTGTCTCCCCGCTGGGTCTTGCAGCTGGCCGGTCCCTCCGCAGCTGGGGTCACTGGGACAGAGAAAGGGAGCAGGAAATGGAGAGTGAACCAAACCACCTGAAGGGGACACTGTGGGCATCCGACAGCACAAGGAAGGAAAAGAGAGCCAGAGGAGGTTTCCAGAGGGCCTAGACATGGGTGGGTCATGGAGTCTTGGAGCTGCTCTGGGAAAGCCCTGCTCTGTCCCAGCGCCTCATCCATTGCCCCAACCAAAGCAGCTCTGGGCTCACTCTCCAGGAGCCTCTGCTCCTCCATTTGGGTCTAGGCTTTGGCCACTGTGCCCTTCCTGACTGGCTTCTTCTGCACTCTTGACCCAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTGGGGAACAACTCCCACCACTTCATCATCTCCCCGACCTCCGTCCAGGGGAAGGCGGACATTCGTATTCGGGTGGCCATCCCACTGGACTACGAGACCGTGGACCGCTACGACTTTGATGTAAGGCCCCACTCACTGGCATTTTGGAGTGGGGTGGGGGGTGGATTTCAGGGGAGGCGAGGGTAGGGTAGAAGATTCCCTTAGATCCCACCTTCCACTGCTGCCCATCTTCCCTTGTGGATCTGACTCAGATAAGCCCTCCAAGAGACGGCAGGGGCCGGGCTGAGTCTCCCTTTTCCAAGGAGGAAAAGGATATGTCCAGTAATTGAGTGGAATTTTACCAGACTCCCATCAGGAGCCTCTGCAACCCATCTCCTGCCAGATCAGCCCCTGCTAGCTCCTCCTGCCCTAGCAGAATCAGCAGCCATCCCTAGAGCAATAACAGACGGGCTCGCAGTAGCACAGAGCTGGGATGGGCAGAGACTCTAACAGGTGCTCTGGGCTGGGGCCGGCAAAGGCATGGAGAGGACTTACAGGGACAAGGACTCTGGGAGGGGACATGTGGGAGCTTACCTGGGCCCCTGTTCTGCACCCCCAGCTCTTTGCCAATGAGAGTGTGCCTGACCATGTGGGCTATGCCAAGGTGAAGATCACTCTCATCAATGAAAATGACAACCGGCCCATCTTCAGCCAGCCACTGTACAACATCAGCCTGTACGAGAACGTCACCGTGGGGACCTCTGTGCTGACAGTCCTGGTGAGTCCCCGCTTCACTGCAGGGCCACTGAGCTCTCCAGGGCCGACTGTGGTGAGGCACCCAGAGGGATTTTGTCCAAGGGACCTCAGCAATCAGGGAAGGAGGCACCCCCAAATCCCTGAGCTGTGTTTGTTGGTGTATTAAATAAAGTTTTTGGACTCTTCAGGAAGGGGCTCCCTTGACCTAGGTTGCAATATGGAAAAGGAGCCAACCTGAGGGGTGACGAGACTGAGCTGAGGACACTGGTTTTCTGCCTTTCCCCGAGAGAGACTCAGTGAGGGTGGGCTGGGAGCCCTGGAAGCCCCCTCAAATGGGTGGGAAGGTGCCAGCCATCCTTGAGAAGGGCAACCCTCTCCATGTGAGCACAGGCACCAGAGAGGGGCAGGCGCCTGGAGGGTACCGGGGCACCCCCAGCTGCCCATGGCTGGACTTGCCCTTTGACAAGGGGCCCTCCCAGTGTCATTTGTATCTGTCAGTACTCTTGGTTGCAAGGGACAGAAACCCTTAAGTAGTTCAAGCAAAAAAGGATTGGCTCATGTAACTCAAAAGTATAAGTGATTTCAGGCCGGGCTCGGTGGCTCACGCCTGTCATCCAACACCTTGAGAAAGCCGAGGTGGGCGGATCACTTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGTCACTGCCCTCCAGCCTGGGCGACAGAGCCAGATTCTGTCTCAAAAAAAAAAAAAGTGCAAGTGATTTCAGGCACGGCTGCATCCAAGCACTCAGTTGAGCAGGGATCTGTCTTCAACACTGGGCTCTGCTTTTTTGTATTGGCAAAGAGGGGCACCAGCACCTCTAGGCTGACTTCTTACCAATTTATCACCCCTAGTGGGAAAAGTTCTTTTGCAGTAATTCCAGCAGATTCTCATCGGCCCAGTTGGTTGTGTCATCCTGGAACCAATTGTGATTCTGGTATGCCGGGGAGGGATCACACTCCCCCTAGTGGACCCAGGGGTTGGGGTCAGCCCCGCCTGAATTACACCGTCTGAGAATGGGGAAGGGGCTTCTATTCTAAGACAAGGGATTGAATGCTAAGCAGATCCAAGTGGTAGATGTGTGCTACACAAGCTCAGAGTCTTGCCCAGTCGGTGCTCAATAAA
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TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGACGGGACGCATTCCACACCAGGGAGCGCTGCAACCTCCACAGCCTGACAGGCCCAGAGGAGCCTTGCCCCCACATCCCCTGGGGAGCCACTTTGGGCTGGGGCTCTGGAGCCCCGCGGCTTGCCTGGACCCCAGAATTGGCAAGAGAGGGCTTAGGGAGCTCAGCTTCCACCTCTCCATCCAAACCTCTGTGCCAGTAACAGGGCACAGGCCTGTCTCCAGGCTTTAAGAAAAGTCTAAATGCAGCAAGTGTATTTGCCAGTTTGCTAAAATGGGAAAAACCCAAGAGACTGATGGGTAAACGTTAGCATGCATTCATTCCACAAGTGCCTTTGAGCATTTAGGGGGCAGCCCCAGGGGCCCATGAATCTTGTGAACTCTCAGGCTTCACTGGGGGTATCACTTCCTGATCATTCCCCCTCTGCCCTGAGCGGGATGGGAACCAGCCTTGCAGGGACTATCCCCTTAGACCACGGAGAGTCTTTGGGGCCAGGGTGACCTCGCAGCCACCCTCTCACCAGGAACAGGTTTCTAAGAGGAGTCCCACAACATACCCTAAGCAACCAAGATGTGAGGGTGGGCTTCCCTTGCCAGCCACTGGTTCAAGAGAAAAGGGCCCATGTGCCAAGCTGGCCACTGGGCTAGGGGTGGGCTCTGCACCATAAGCCAGAGCCTCTGCCTCTGGACTGAAAGCCAAGGTCAGTGACCTACTGGGCACCTGCAAGAGAGGTCAGAAGGAGGCTCTTACACATCACAGGCCGCCTGCCCAGTTGGAGGGGAGTCTGGGGGCGCAGGTGATCCCCTTGCCCCAAGTGCAGGCAGGAAGAGGAAGTAGAATCACTTTCTGAGCAGGCCAGACCTCAGGGAGTCAGTAAGCTGAATCTCCCACCTTCAGCCATGTCTCCTCCCCATGATCTGGAGACTTCAGTCACATCACATGCTTTCTGTGAGGAGAGTCAGGTAGCATCTGAGGGGCTCTGTGAGCCACAGCCCTGGTTAGAATAATCAGAAATGCCTGAACTTGAGTGAGGCACCCACCTCCCTGAAATGATGGGCTTGGGCCTCTGGGACACAGCAGAACCTGTGATGGGGTGGCCACCCTGTGCTCAGTCTGGGATCCTGGGCCCCCCGGGACTGGCAACAGTGTGGGATCCCTGGCCATTCACATTGCCACTCAGTCTCTGGGTTATTCCCATTTCACATGTCAGCAAACCAGTGTTCTCCCTGCTGGACACGTTCCAGAGGAGGAGGGGAAGAACAGCATCTGCATCCCTTGTGTCCTCTCCTGGCCAAGCCTGTCATGGCCGCTTAACTGCTTCTCTTCTCTCCACTCCCCTCACATCCTCTCTCCTCCTCCTTCCTCTGTCTCCCCGCTGGGTCTTGCAGCTGGCCGGTCCCTCCGCAGCTGGGGTCACTGGGACAGAGAAAGGGAGCAGGAAATGGAGAGTGAACCAAACCACCTGAAGGGGACACTGTGGGCATCCGACAGCACAAGGAAGGAAAAGAGAGCCAGAGGAGGTTTCCAGAGGGCCTAGACATGGGTGGGTCATGGAGTCTTGGAGCTGCTCTGGGAAAGCCCTGCTCTGTCCCAGCGCCTCATCCATTGCCCCAACCAAAGCAGCTCTGGGCTCACTCTCCAGGAGCCTCTGCTCCTCCATTTGGGTCTAGGCTTTGGCCACTGTGCCCTTCCTGACTGGCTTCTTCTGCACTCTTGACCCAGGGCCTGAACAGAATGTTTGAGGTGTACTTGGTGGGGAACAACTCCCACCACTTCATCATCTCCCCGACCTCCGTCCAGGGGAAGGCGGACATTCGTATTCGGGTGGCCATCCCACTGGACTACGAGACCGTGGACCGCTACGACTTTGATGTAAGGCCCCACTCACTGGCATTTTGGAGTGGGGTGGGGGGTGGATTTCAGGGGAGGCGAGGGTAGGGTAGAAGATTCCCTTAGATCCCACCTTCCACTGCTGCCCATCTTCCCTTGTGGATCTGACTCAGATAAGCCCTCCAAGAGACGGCAGGGGCCGGGCTGAGTCTCCCTTTTCCAAGGAGGAAAAGGATATGTCCAGTAATTGAGTGGAATTTTACCAGACTCCCATCAGGAGCCTCTGCAACCCATCTCCTGCCAGATCAGCCCCTGCTAGCTCCTCCTGCCCTAGCAGAATCAGCAGCCATCCCTAGAGCAATAACAGACGGGCTCGCAGTAGCACAGAGCTGGGATGGGCAGAGACTCTAACAGGTGCTCTGGGCTGGGGCCGGCAAAGGCATGGAGAGGACTTACAGGGACAAGGACTCTGGGAGGGGACATGTGGGAGCTTACCTGGGCCCCTGTTCTGCACCCCCAGCTCTTTGCCAATGAGAGTGTGCCTGACCATGTGGGCTATGCCAAGGTGAAGATCACTCTCATCAATGAAAATGACAACCGGCCCATCTTCAGCCAGCCACTGTACAACATCAGCCTGTACGAGAACGTCACCGTGGGGACCTCTGTGCTGACAGTCCTGGTGAGTCCCCGCTTCACTGCAGGGCCACTGAGCTCTCCAGGGCCGACTGTGGTGAGGCACCCAGAGGGATTTTGTCCAAGGGACCTCAGCAATCAGGGAAGGAGGCACCCCCAAATCCCTGAGCTGTGTTTGTTGGTGTATTAAATAAAGTTTTTGGACTCTTCAGGAAGGGGCTCCCTTGACCTAGGTTGCAATATGGAAAAGGAGCCAACCTGAGGGGTGACGAGACTGAGCTGAGGACACTGGTTTTCTGCCTTTCCCCGAGAGAGACTCAGTGAGGGTGGGCTGGGAGCCCTGGAAGCCCCCTCAAATGGGTGGGAAGGTGCCAGCCATCCTTGAGAAGGGCAACCCTCTCCATGTGAGCACAGGCACCAGAGAGGGGCAGGCGCCTGGAGGGTACCGGGGCACCCCCAGCTGCCCATGGCTGGACTTGCCCTTTGACAAGGGGCCCTCCCAGTGTCATTTGTATCTGTCAGTACTCTTGGTTGCAAGGGACAGAAACCCTTAAGTAGTTCAAGCAAAAAAGGATTGGCTCATGTAACTCAAAAGTATAAGTGATTTCAGGCCGGGCTCGGTGGCTCACGCCTGTCATCCAACACCTTGAGAAAGCCGAGGTGGGCGGATCACTTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGTCACTGCCCTCCAGCCTGGGCGACAGAGCCAGATTCTGTCTCAAAAAAAAAAAAAGTGCAAGTGATTTCAGGCACGGCTGCATCCAAGCACTCAGTTGAGCAGGGATCTGTCTTCAACACTGGGCTCTGCTTTTTTGTATTGGCAAAGAGGGGCACCAGCACCTCTAGGCTGACTTCTTACCAATTTATCACCCCTAGTGGGAAAAGTTCTTTTGCAGTAATTCCAGCAGATTCTCATCGGCCCAGTTGGTTGTGTCATCCTGGAACCAATTGTGATTCTGGTATGCCGGGGAGGGATCACACTCCCCCTAGTGGACCCAGGGGTTGGGGTCAGCCCCGCCTGAATTACACCGTCTGAGAATGGGGAAGGGGCTTCTATTCTAAGACAAGGGATTGAATGCTAAGCAGATCCAAGTGGTAGATGTGTGCTACACAAGCTCAGAGTCTTGCCCAGTCGGTGCTCAATAAA
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Task1_train_14016
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This alteration in CDH23 (cadherin related 23) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Usher syndrome type 1D
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TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGACGGGACGCATTCCACACCAGGGAGCGCTGCAACCTCCACAGCCTGACAGGCCCAGAGGAGCCTTGCCCCCACATCCCCTGGGGAGCCACTTTGGGCTGGGGCTCTGGAGCCCCGCGGCTTGCCTGGACCCCAGAATTGGCAAGAGAGGGCTTAGGGAGCTCAGCTTCCACCTCTCCATCCAAACCTCTGTGCCAGTAACAGGGCACAGGCCTGTCTCCAGGCTTTAAGAAAAGTCTAAATGCAGCAAGTGTATTTGCCAGTTTGCTAAAATGGGAAAAACCCAAGAGACTGATGGGTAAACGTTAGCATGCATTCATTCCACAAGTGCCTTTGAGCATTTAGGGGGCAGCCCCAGGGGCCCATGAATCTTGTGAACTCTCAGGCTTCACTGGGGGTATCACTTCCTGATCATTCCCCCTCTGCCCTGAGCGGGATGGGAACCAGCCTTGCAGGGACTATCCCCTTAGACCACGGAGAGTCTTTGGGGCCAGGGTGACCTCGCAGCCACCCTCTCACCAGGAACAGGTTTCTAAGAGGAGTCCCACAACATACCCTAAGCAACCAAGATGTGAGGGTGGGCTTCCCTTGCCAGCCACTGGTTCAAGAGAAAAGGGCCCATGTGCCAAGCTGGCCACTGGGCTAGGGGTGGGCTCTGCACCATAAGCCAGAGCCTCTGCCTCTGGACTGAAAGCCAAGGTCAGTGACCTACTGGGCACCTGCAAGAGAGGTCAGAAGGAGGCTCTTACACATCACAGGCCGCCTGCCCAGTTGGAGGGGAGTCTGGGGGCGCAGGTGATCCCCTTGCCCCAAGTGCAGGCAGGAAGAGGAAGTAGAATCACTTTCTGAGCAGGCCAGACCTCAGGGAGTCAGTAAGCTGAATCTCCCACCTTCAGCCATGTCTCCTCCCCATGATCTGGAGACTTCAGTCACATCACATGCTTTCTGTGAGGAGAGTCAGGTAGCATCTGAGGGGCTCTGTGAGCCACAGCCCTGGTTAGAATAATCAGAAATGCCTGAACTTGAGTGAGGCACCCACCTCCCTGAAATGATGGGCTTGGGCCTCTGGGACACAGCAGAACCTGTGATGGGGTGGCCACCCTGTGCTCAGTCTGGGATCCTGGGCCCCCCGGGACTGGCAACAGTGTGGGATCCCTGGCCATTCACATTGCCACTCAGTCTCTGGGTTATTCCCATTTCACATGTCAGCAAACCAGTGTTCTCCCTGCTGGACACGTTCCAGAGGAGGAGGGGAAGAACAGCATCTGCATCCCTTGTGTCCTCTCCTGGCCAAGCCTGTCATGGCCGCTTAACTGCTTCTCTTCTCTCCACTCCCCTCACATCCTCTCTCCTCCTCCTTCCTCTGTCTCCCCGCTGGGTCTTGCAGCTGGCCGGTCCCTCCGCAGCTGGGGTCACTGGGACAGAGAAAGGGAGCAGGAAATGGAGAGTGAACCAAACCACCTGAAGGGGACACTGTGGGCATCCGACAGCACAAGGAAGGAAAAGAGAGCCAGAGGAGGTTTCCAGAGGGCCTAGACATGGGTGGGTCATGGAGTCTTGGAGCTGCTCTGGGAAAGCCCTGCTCTGTCCCAGCGCCTCATCCATTGCCCCAACCAAAGCAGCTCTGGGCTCACTCTCCAGGAGCCTCTGCTCCTCCATTTGGGTCTAGGCTTTGGCCACTGTGCCCTTCCTGACTGGCTTCTTCTGCACTCTTGACCCAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTGGGGAACAACTCCCACCACTTCATCATCTCCCCGACCTCCGTCCAGGGGAAGGCGGACATTCGTATTCGGGTGGCCATCCCACTGGACTACGAGACCGTGGACCGCTACGACTTTGATGTAAGGCCCCACTCACTGGCATTTTGGAGTGGGGTGGGGGGTGGATTTCAGGGGAGGCGAGGGTAGGGTAGAAGATTCCCTTAGATCCCACCTTCCACTGCTGCCCATCTTCCCTTGTGGATCTGACTCAGATAAGCCCTCCAAGAGACGGCAGGGGCCGGGCTGAGTCTCCCTTTTCCAAGGAGGAAAAGGATATGTCCAGTAATTGAGTGGAATTTTACCAGACTCCCATCAGGAGCCTCTGCAACCCATCTCCTGCCAGATCAGCCCCTGCTAGCTCCTCCTGCCCTAGCAGAATCAGCAGCCATCCCTAGAGCAATAACAGACGGGCTCGCAGTAGCACAGAGCTGGGATGGGCAGAGACTCTAACAGGTGCTCTGGGCTGGGGCCGGCAAAGGCATGGAGAGGACTTACAGGGACAAGGACTCTGGGAGGGGACATGTGGGAGCTTACCTGGGCCCCTGTTCTGCACCCCCAGCTCTTTGCCAATGAGAGTGTGCCTGACCATGTGGGCTATGCCAAGGTGAAGATCACTCTCATCAATGAAAATGACAACCGGCCCATCTTCAGCCAGCCACTGTACAACATCAGCCTGTACGAGAACGTCACCGTGGGGACCTCTGTGCTGACAGTCCTGGTGAGTCCCCGCTTCACTGCAGGGCCACTGAGCTCTCCAGGGCCGACTGTGGTGAGGCACCCAGAGGGATTTTGTCCAAGGGACCTCAGCAATCAGGGAAGGAGGCACCCCCAAATCCCTGAGCTGTGTTTGTTGGTGTATTAAATAAAGTTTTTGGACTCTTCAGGAAGGGGCTCCCTTGACCTAGGTTGCAATATGGAAAAGGAGCCAACCTGAGGGGTGACGAGACTGAGCTGAGGACACTGGTTTTCTGCCTTTCCCCGAGAGAGACTCAGTGAGGGTGGGCTGGGAGCCCTGGAAGCCCCCTCAAATGGGTGGGAAGGTGCCAGCCATCCTTGAGAAGGGCAACCCTCTCCATGTGAGCACAGGCACCAGAGAGGGGCAGGCGCCTGGAGGGTACCGGGGCACCCCCAGCTGCCCATGGCTGGACTTGCCCTTTGACAAGGGGCCCTCCCAGTGTCATTTGTATCTGTCAGTACTCTTGGTTGCAAGGGACAGAAACCCTTAAGTAGTTCAAGCAAAAAAGGATTGGCTCATGTAACTCAAAAGTATAAGTGATTTCAGGCCGGGCTCGGTGGCTCACGCCTGTCATCCAACACCTTGAGAAAGCCGAGGTGGGCGGATCACTTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGTCACTGCCCTCCAGCCTGGGCGACAGAGCCAGATTCTGTCTCAAAAAAAAAAAAAGTGCAAGTGATTTCAGGCACGGCTGCATCCAAGCACTCAGTTGAGCAGGGATCTGTCTTCAACACTGGGCTCTGCTTTTTTGTATTGGCAAAGAGGGGCACCAGCACCTCTAGGCTGACTTCTTACCAATTTATCACCCCTAGTGGGAAAAGTTCTTTTGCAGTAATTCCAGCAGATTCTCATCGGCCCAGTTGGTTGTGTCATCCTGGAACCAATTGTGATTCTGGTATGCCGGGGAGGGATCACACTCCCCCTAGTGGACCCAGGGGTTGGGGTCAGCCCCGCCTGAATTACACCGTCTGAGAATGGGGAAGGGGCTTCTATTCTAAGACAAGGGATTGAATGCTAAGCAGATCCAAGTGGTAGATGTGTGCTACACAAGCTCAGAGTCTTGCCCAGTCGGTGCTCAATAAA
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TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGACGGGACGCATTCCACACCAGGGAGCGCTGCAACCTCCACAGCCTGACAGGCCCAGAGGAGCCTTGCCCCCACATCCCCTGGGGAGCCACTTTGGGCTGGGGCTCTGGAGCCCCGCGGCTTGCCTGGACCCCAGAATTGGCAAGAGAGGGCTTAGGGAGCTCAGCTTCCACCTCTCCATCCAAACCTCTGTGCCAGTAACAGGGCACAGGCCTGTCTCCAGGCTTTAAGAAAAGTCTAAATGCAGCAAGTGTATTTGCCAGTTTGCTAAAATGGGAAAAACCCAAGAGACTGATGGGTAAACGTTAGCATGCATTCATTCCACAAGTGCCTTTGAGCATTTAGGGGGCAGCCCCAGGGGCCCATGAATCTTGTGAACTCTCAGGCTTCACTGGGGGTATCACTTCCTGATCATTCCCCCTCTGCCCTGAGCGGGATGGGAACCAGCCTTGCAGGGACTATCCCCTTAGACCACGGAGAGTCTTTGGGGCCAGGGTGACCTCGCAGCCACCCTCTCACCAGGAACAGGTTTCTAAGAGGAGTCCCACAACATACCCTAAGCAACCAAGATGTGAGGGTGGGCTTCCCTTGCCAGCCACTGGTTCAAGAGAAAAGGGCCCATGTGCCAAGCTGGCCACTGGGCTAGGGGTGGGCTCTGCACCATAAGCCAGAGCCTCTGCCTCTGGACTGAAAGCCAAGGTCAGTGACCTACTGGGCACCTGCAAGAGAGGTCAGAAGGAGGCTCTTACACATCACAGGCCGCCTGCCCAGTTGGAGGGGAGTCTGGGGGCGCAGGTGATCCCCTTGCCCCAAGTGCAGGCAGGAAGAGGAAGTAGAATCACTTTCTGAGCAGGCCAGACCTCAGGGAGTCAGTAAGCTGAATCTCCCACCTTCAGCCATGTCTCCTCCCCATGATCTGGAGACTTCAGTCACATCACATGCTTTCTGTGAGGAGAGTCAGGTAGCATCTGAGGGGCTCTGTGAGCCACAGCCCTGGTTAGAATAATCAGAAATGCCTGAACTTGAGTGAGGCACCCACCTCCCTGAAATGATGGGCTTGGGCCTCTGGGACACAGCAGAACCTGTGATGGGGTGGCCACCCTGTGCTCAGTCTGGGATCCTGGGCCCCCCGGGACTGGCAACAGTGTGGGATCCCTGGCCATTCACATTGCCACTCAGTCTCTGGGTTATTCCCATTTCACATGTCAGCAAACCAGTGTTCTCCCTGCTGGACACGTTCCAGAGGAGGAGGGGAAGAACAGCATCTGCATCCCTTGTGTCCTCTCCTGGCCAAGCCTGTCATGGCCGCTTAACTGCTTCTCTTCTCTCCACTCCCCTCACATCCTCTCTCCTCCTCCTTCCTCTGTCTCCCCGCTGGGTCTTGCAGCTGGCCGGTCCCTCCGCAGCTGGGGTCACTGGGACAGAGAAAGGGAGCAGGAAATGGAGAGTGAACCAAACCACCTGAAGGGGACACTGTGGGCATCCGACAGCACAAGGAAGGAAAAGAGAGCCAGAGGAGGTTTCCAGAGGGCCTAGACATGGGTGGGTCATGGAGTCTTGGAGCTGCTCTGGGAAAGCCCTGCTCTGTCCCAGCGCCTCATCCATTGCCCCAACCAAAGCAGCTCTGGGCTCACTCTCCAGGAGCCTCTGCTCCTCCATTTGGGTCTAGGCTTTGGCCACTGTGCCCTTCCTGACTGGCTTCTTCTGCACTCTTGACCCAGGGCCTGAACAGAATGTTTGAGGTGTACTTGGTGGGGAACAACTCCCACCACTTCATCATCTCCCCGACCTCCGTCCAGGGGAAGGCGGACATTCGTATTCGGGTGGCCATCCCACTGGACTACGAGACCGTGGACCGCTACGACTTTGATGTAAGGCCCCACTCACTGGCATTTTGGAGTGGGGTGGGGGGTGGATTTCAGGGGAGGCGAGGGTAGGGTAGAAGATTCCCTTAGATCCCACCTTCCACTGCTGCCCATCTTCCCTTGTGGATCTGACTCAGATAAGCCCTCCAAGAGACGGCAGGGGCCGGGCTGAGTCTCCCTTTTCCAAGGAGGAAAAGGATATGTCCAGTAATTGAGTGGAATTTTACCAGACTCCCATCAGGAGCCTCTGCAACCCATCTCCTGCCAGATCAGCCCCTGCTAGCTCCTCCTGCCCTAGCAGAATCAGCAGCCATCCCTAGAGCAATAACAGACGGGCTCGCAGTAGCACAGAGCTGGGATGGGCAGAGACTCTAACAGGTGCTCTGGGCTGGGGCCGGCAAAGGCATGGAGAGGACTTACAGGGACAAGGACTCTGGGAGGGGACATGTGGGAGCTTACCTGGGCCCCTGTTCTGCACCCCCAGCTCTTTGCCAATGAGAGTGTGCCTGACCATGTGGGCTATGCCAAGGTGAAGATCACTCTCATCAATGAAAATGACAACCGGCCCATCTTCAGCCAGCCACTGTACAACATCAGCCTGTACGAGAACGTCACCGTGGGGACCTCTGTGCTGACAGTCCTGGTGAGTCCCCGCTTCACTGCAGGGCCACTGAGCTCTCCAGGGCCGACTGTGGTGAGGCACCCAGAGGGATTTTGTCCAAGGGACCTCAGCAATCAGGGAAGGAGGCACCCCCAAATCCCTGAGCTGTGTTTGTTGGTGTATTAAATAAAGTTTTTGGACTCTTCAGGAAGGGGCTCCCTTGACCTAGGTTGCAATATGGAAAAGGAGCCAACCTGAGGGGTGACGAGACTGAGCTGAGGACACTGGTTTTCTGCCTTTCCCCGAGAGAGACTCAGTGAGGGTGGGCTGGGAGCCCTGGAAGCCCCCTCAAATGGGTGGGAAGGTGCCAGCCATCCTTGAGAAGGGCAACCCTCTCCATGTGAGCACAGGCACCAGAGAGGGGCAGGCGCCTGGAGGGTACCGGGGCACCCCCAGCTGCCCATGGCTGGACTTGCCCTTTGACAAGGGGCCCTCCCAGTGTCATTTGTATCTGTCAGTACTCTTGGTTGCAAGGGACAGAAACCCTTAAGTAGTTCAAGCAAAAAAGGATTGGCTCATGTAACTCAAAAGTATAAGTGATTTCAGGCCGGGCTCGGTGGCTCACGCCTGTCATCCAACACCTTGAGAAAGCCGAGGTGGGCGGATCACTTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGTCACTGCCCTCCAGCCTGGGCGACAGAGCCAGATTCTGTCTCAAAAAAAAAAAAAGTGCAAGTGATTTCAGGCACGGCTGCATCCAAGCACTCAGTTGAGCAGGGATCTGTCTTCAACACTGGGCTCTGCTTTTTTGTATTGGCAAAGAGGGGCACCAGCACCTCTAGGCTGACTTCTTACCAATTTATCACCCCTAGTGGGAAAAGTTCTTTTGCAGTAATTCCAGCAGATTCTCATCGGCCCAGTTGGTTGTGTCATCCTGGAACCAATTGTGATTCTGGTATGCCGGGGAGGGATCACACTCCCCCTAGTGGACCCAGGGGTTGGGGTCAGCCCCGCCTGAATTACACCGTCTGAGAATGGGGAAGGGGCTTCTATTCTAAGACAAGGGATTGAATGCTAAGCAGATCCAAGTGGTAGATGTGTGCTACACAAGCTCAGAGTCTTGCCCAGTCGGTGCTCAATAAA
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Task1_train_14017
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This variant impacts the gene CDH23 (cadherin related 23) on Chromosome 10. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Pituitary adenoma 5, multiple types
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TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGACGGGACGCATTCCACACCAGGGAGCGCTGCAACCTCCACAGCCTGACAGGCCCAGAGGAGCCTTGCCCCCACATCCCCTGGGGAGCCACTTTGGGCTGGGGCTCTGGAGCCCCGCGGCTTGCCTGGACCCCAGAATTGGCAAGAGAGGGCTTAGGGAGCTCAGCTTCCACCTCTCCATCCAAACCTCTGTGCCAGTAACAGGGCACAGGCCTGTCTCCAGGCTTTAAGAAAAGTCTAAATGCAGCAAGTGTATTTGCCAGTTTGCTAAAATGGGAAAAACCCAAGAGACTGATGGGTAAACGTTAGCATGCATTCATTCCACAAGTGCCTTTGAGCATTTAGGGGGCAGCCCCAGGGGCCCATGAATCTTGTGAACTCTCAGGCTTCACTGGGGGTATCACTTCCTGATCATTCCCCCTCTGCCCTGAGCGGGATGGGAACCAGCCTTGCAGGGACTATCCCCTTAGACCACGGAGAGTCTTTGGGGCCAGGGTGACCTCGCAGCCACCCTCTCACCAGGAACAGGTTTCTAAGAGGAGTCCCACAACATACCCTAAGCAACCAAGATGTGAGGGTGGGCTTCCCTTGCCAGCCACTGGTTCAAGAGAAAAGGGCCCATGTGCCAAGCTGGCCACTGGGCTAGGGGTGGGCTCTGCACCATAAGCCAGAGCCTCTGCCTCTGGACTGAAAGCCAAGGTCAGTGACCTACTGGGCACCTGCAAGAGAGGTCAGAAGGAGGCTCTTACACATCACAGGCCGCCTGCCCAGTTGGAGGGGAGTCTGGGGGCGCAGGTGATCCCCTTGCCCCAAGTGCAGGCAGGAAGAGGAAGTAGAATCACTTTCTGAGCAGGCCAGACCTCAGGGAGTCAGTAAGCTGAATCTCCCACCTTCAGCCATGTCTCCTCCCCATGATCTGGAGACTTCAGTCACATCACATGCTTTCTGTGAGGAGAGTCAGGTAGCATCTGAGGGGCTCTGTGAGCCACAGCCCTGGTTAGAATAATCAGAAATGCCTGAACTTGAGTGAGGCACCCACCTCCCTGAAATGATGGGCTTGGGCCTCTGGGACACAGCAGAACCTGTGATGGGGTGGCCACCCTGTGCTCAGTCTGGGATCCTGGGCCCCCCGGGACTGGCAACAGTGTGGGATCCCTGGCCATTCACATTGCCACTCAGTCTCTGGGTTATTCCCATTTCACATGTCAGCAAACCAGTGTTCTCCCTGCTGGACACGTTCCAGAGGAGGAGGGGAAGAACAGCATCTGCATCCCTTGTGTCCTCTCCTGGCCAAGCCTGTCATGGCCGCTTAACTGCTTCTCTTCTCTCCACTCCCCTCACATCCTCTCTCCTCCTCCTTCCTCTGTCTCCCCGCTGGGTCTTGCAGCTGGCCGGTCCCTCCGCAGCTGGGGTCACTGGGACAGAGAAAGGGAGCAGGAAATGGAGAGTGAACCAAACCACCTGAAGGGGACACTGTGGGCATCCGACAGCACAAGGAAGGAAAAGAGAGCCAGAGGAGGTTTCCAGAGGGCCTAGACATGGGTGGGTCATGGAGTCTTGGAGCTGCTCTGGGAAAGCCCTGCTCTGTCCCAGCGCCTCATCCATTGCCCCAACCAAAGCAGCTCTGGGCTCACTCTCCAGGAGCCTCTGCTCCTCCATTTGGGTCTAGGCTTTGGCCACTGTGCCCTTCCTGACTGGCTTCTTCTGCACTCTTGACCCAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTGGGGAACAACTCCCACCACTTCATCATCTCCCCGACCTCCGTCCAGGGGAAGGCGGACATTCGTATTCGGGTGGCCATCCCACTGGACTACGAGACCGTGGACCGCTACGACTTTGATGTAAGGCCCCACTCACTGGCATTTTGGAGTGGGGTGGGGGGTGGATTTCAGGGGAGGCGAGGGTAGGGTAGAAGATTCCCTTAGATCCCACCTTCCACTGCTGCCCATCTTCCCTTGTGGATCTGACTCAGATAAGCCCTCCAAGAGACGGCAGGGGCCGGGCTGAGTCTCCCTTTTCCAAGGAGGAAAAGGATATGTCCAGTAATTGAGTGGAATTTTACCAGACTCCCATCAGGAGCCTCTGCAACCCATCTCCTGCCAGATCAGCCCCTGCTAGCTCCTCCTGCCCTAGCAGAATCAGCAGCCATCCCTAGAGCAATAACAGACGGGCTCGCAGTAGCACAGAGCTGGGATGGGCAGAGACTCTAACAGGTGCTCTGGGCTGGGGCCGGCAAAGGCATGGAGAGGACTTACAGGGACAAGGACTCTGGGAGGGGACATGTGGGAGCTTACCTGGGCCCCTGTTCTGCACCCCCAGCTCTTTGCCAATGAGAGTGTGCCTGACCATGTGGGCTATGCCAAGGTGAAGATCACTCTCATCAATGAAAATGACAACCGGCCCATCTTCAGCCAGCCACTGTACAACATCAGCCTGTACGAGAACGTCACCGTGGGGACCTCTGTGCTGACAGTCCTGGTGAGTCCCCGCTTCACTGCAGGGCCACTGAGCTCTCCAGGGCCGACTGTGGTGAGGCACCCAGAGGGATTTTGTCCAAGGGACCTCAGCAATCAGGGAAGGAGGCACCCCCAAATCCCTGAGCTGTGTTTGTTGGTGTATTAAATAAAGTTTTTGGACTCTTCAGGAAGGGGCTCCCTTGACCTAGGTTGCAATATGGAAAAGGAGCCAACCTGAGGGGTGACGAGACTGAGCTGAGGACACTGGTTTTCTGCCTTTCCCCGAGAGAGACTCAGTGAGGGTGGGCTGGGAGCCCTGGAAGCCCCCTCAAATGGGTGGGAAGGTGCCAGCCATCCTTGAGAAGGGCAACCCTCTCCATGTGAGCACAGGCACCAGAGAGGGGCAGGCGCCTGGAGGGTACCGGGGCACCCCCAGCTGCCCATGGCTGGACTTGCCCTTTGACAAGGGGCCCTCCCAGTGTCATTTGTATCTGTCAGTACTCTTGGTTGCAAGGGACAGAAACCCTTAAGTAGTTCAAGCAAAAAAGGATTGGCTCATGTAACTCAAAAGTATAAGTGATTTCAGGCCGGGCTCGGTGGCTCACGCCTGTCATCCAACACCTTGAGAAAGCCGAGGTGGGCGGATCACTTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGTCACTGCCCTCCAGCCTGGGCGACAGAGCCAGATTCTGTCTCAAAAAAAAAAAAAGTGCAAGTGATTTCAGGCACGGCTGCATCCAAGCACTCAGTTGAGCAGGGATCTGTCTTCAACACTGGGCTCTGCTTTTTTGTATTGGCAAAGAGGGGCACCAGCACCTCTAGGCTGACTTCTTACCAATTTATCACCCCTAGTGGGAAAAGTTCTTTTGCAGTAATTCCAGCAGATTCTCATCGGCCCAGTTGGTTGTGTCATCCTGGAACCAATTGTGATTCTGGTATGCCGGGGAGGGATCACACTCCCCCTAGTGGACCCAGGGGTTGGGGTCAGCCCCGCCTGAATTACACCGTCTGAGAATGGGGAAGGGGCTTCTATTCTAAGACAAGGGATTGAATGCTAAGCAGATCCAAGTGGTAGATGTGTGCTACACAAGCTCAGAGTCTTGCCCAGTCGGTGCTCAATAAA
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TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGACGGGACGCATTCCACACCAGGGAGCGCTGCAACCTCCACAGCCTGACAGGCCCAGAGGAGCCTTGCCCCCACATCCCCTGGGGAGCCACTTTGGGCTGGGGCTCTGGAGCCCCGCGGCTTGCCTGGACCCCAGAATTGGCAAGAGAGGGCTTAGGGAGCTCAGCTTCCACCTCTCCATCCAAACCTCTGTGCCAGTAACAGGGCACAGGCCTGTCTCCAGGCTTTAAGAAAAGTCTAAATGCAGCAAGTGTATTTGCCAGTTTGCTAAAATGGGAAAAACCCAAGAGACTGATGGGTAAACGTTAGCATGCATTCATTCCACAAGTGCCTTTGAGCATTTAGGGGGCAGCCCCAGGGGCCCATGAATCTTGTGAACTCTCAGGCTTCACTGGGGGTATCACTTCCTGATCATTCCCCCTCTGCCCTGAGCGGGATGGGAACCAGCCTTGCAGGGACTATCCCCTTAGACCACGGAGAGTCTTTGGGGCCAGGGTGACCTCGCAGCCACCCTCTCACCAGGAACAGGTTTCTAAGAGGAGTCCCACAACATACCCTAAGCAACCAAGATGTGAGGGTGGGCTTCCCTTGCCAGCCACTGGTTCAAGAGAAAAGGGCCCATGTGCCAAGCTGGCCACTGGGCTAGGGGTGGGCTCTGCACCATAAGCCAGAGCCTCTGCCTCTGGACTGAAAGCCAAGGTCAGTGACCTACTGGGCACCTGCAAGAGAGGTCAGAAGGAGGCTCTTACACATCACAGGCCGCCTGCCCAGTTGGAGGGGAGTCTGGGGGCGCAGGTGATCCCCTTGCCCCAAGTGCAGGCAGGAAGAGGAAGTAGAATCACTTTCTGAGCAGGCCAGACCTCAGGGAGTCAGTAAGCTGAATCTCCCACCTTCAGCCATGTCTCCTCCCCATGATCTGGAGACTTCAGTCACATCACATGCTTTCTGTGAGGAGAGTCAGGTAGCATCTGAGGGGCTCTGTGAGCCACAGCCCTGGTTAGAATAATCAGAAATGCCTGAACTTGAGTGAGGCACCCACCTCCCTGAAATGATGGGCTTGGGCCTCTGGGACACAGCAGAACCTGTGATGGGGTGGCCACCCTGTGCTCAGTCTGGGATCCTGGGCCCCCCGGGACTGGCAACAGTGTGGGATCCCTGGCCATTCACATTGCCACTCAGTCTCTGGGTTATTCCCATTTCACATGTCAGCAAACCAGTGTTCTCCCTGCTGGACACGTTCCAGAGGAGGAGGGGAAGAACAGCATCTGCATCCCTTGTGTCCTCTCCTGGCCAAGCCTGTCATGGCCGCTTAACTGCTTCTCTTCTCTCCACTCCCCTCACATCCTCTCTCCTCCTCCTTCCTCTGTCTCCCCGCTGGGTCTTGCAGCTGGCCGGTCCCTCCGCAGCTGGGGTCACTGGGACAGAGAAAGGGAGCAGGAAATGGAGAGTGAACCAAACCACCTGAAGGGGACACTGTGGGCATCCGACAGCACAAGGAAGGAAAAGAGAGCCAGAGGAGGTTTCCAGAGGGCCTAGACATGGGTGGGTCATGGAGTCTTGGAGCTGCTCTGGGAAAGCCCTGCTCTGTCCCAGCGCCTCATCCATTGCCCCAACCAAAGCAGCTCTGGGCTCACTCTCCAGGAGCCTCTGCTCCTCCATTTGGGTCTAGGCTTTGGCCACTGTGCCCTTCCTGACTGGCTTCTTCTGCACTCTTGACCCAGGGCCTGAACAGAATGTTTGAGGTGTACTTGGTGGGGAACAACTCCCACCACTTCATCATCTCCCCGACCTCCGTCCAGGGGAAGGCGGACATTCGTATTCGGGTGGCCATCCCACTGGACTACGAGACCGTGGACCGCTACGACTTTGATGTAAGGCCCCACTCACTGGCATTTTGGAGTGGGGTGGGGGGTGGATTTCAGGGGAGGCGAGGGTAGGGTAGAAGATTCCCTTAGATCCCACCTTCCACTGCTGCCCATCTTCCCTTGTGGATCTGACTCAGATAAGCCCTCCAAGAGACGGCAGGGGCCGGGCTGAGTCTCCCTTTTCCAAGGAGGAAAAGGATATGTCCAGTAATTGAGTGGAATTTTACCAGACTCCCATCAGGAGCCTCTGCAACCCATCTCCTGCCAGATCAGCCCCTGCTAGCTCCTCCTGCCCTAGCAGAATCAGCAGCCATCCCTAGAGCAATAACAGACGGGCTCGCAGTAGCACAGAGCTGGGATGGGCAGAGACTCTAACAGGTGCTCTGGGCTGGGGCCGGCAAAGGCATGGAGAGGACTTACAGGGACAAGGACTCTGGGAGGGGACATGTGGGAGCTTACCTGGGCCCCTGTTCTGCACCCCCAGCTCTTTGCCAATGAGAGTGTGCCTGACCATGTGGGCTATGCCAAGGTGAAGATCACTCTCATCAATGAAAATGACAACCGGCCCATCTTCAGCCAGCCACTGTACAACATCAGCCTGTACGAGAACGTCACCGTGGGGACCTCTGTGCTGACAGTCCTGGTGAGTCCCCGCTTCACTGCAGGGCCACTGAGCTCTCCAGGGCCGACTGTGGTGAGGCACCCAGAGGGATTTTGTCCAAGGGACCTCAGCAATCAGGGAAGGAGGCACCCCCAAATCCCTGAGCTGTGTTTGTTGGTGTATTAAATAAAGTTTTTGGACTCTTCAGGAAGGGGCTCCCTTGACCTAGGTTGCAATATGGAAAAGGAGCCAACCTGAGGGGTGACGAGACTGAGCTGAGGACACTGGTTTTCTGCCTTTCCCCGAGAGAGACTCAGTGAGGGTGGGCTGGGAGCCCTGGAAGCCCCCTCAAATGGGTGGGAAGGTGCCAGCCATCCTTGAGAAGGGCAACCCTCTCCATGTGAGCACAGGCACCAGAGAGGGGCAGGCGCCTGGAGGGTACCGGGGCACCCCCAGCTGCCCATGGCTGGACTTGCCCTTTGACAAGGGGCCCTCCCAGTGTCATTTGTATCTGTCAGTACTCTTGGTTGCAAGGGACAGAAACCCTTAAGTAGTTCAAGCAAAAAAGGATTGGCTCATGTAACTCAAAAGTATAAGTGATTTCAGGCCGGGCTCGGTGGCTCACGCCTGTCATCCAACACCTTGAGAAAGCCGAGGTGGGCGGATCACTTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGTCACTGCCCTCCAGCCTGGGCGACAGAGCCAGATTCTGTCTCAAAAAAAAAAAAAGTGCAAGTGATTTCAGGCACGGCTGCATCCAAGCACTCAGTTGAGCAGGGATCTGTCTTCAACACTGGGCTCTGCTTTTTTGTATTGGCAAAGAGGGGCACCAGCACCTCTAGGCTGACTTCTTACCAATTTATCACCCCTAGTGGGAAAAGTTCTTTTGCAGTAATTCCAGCAGATTCTCATCGGCCCAGTTGGTTGTGTCATCCTGGAACCAATTGTGATTCTGGTATGCCGGGGAGGGATCACACTCCCCCTAGTGGACCCAGGGGTTGGGGTCAGCCCCGCCTGAATTACACCGTCTGAGAATGGGGAAGGGGCTTCTATTCTAAGACAAGGGATTGAATGCTAAGCAGATCCAAGTGGTAGATGTGTGCTACACAAGCTCAGAGTCTTGCCCAGTCGGTGCTCAATAAA
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Task1_train_14018
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Located on Chromosome 10, this mutation impacts CDH23 (cadherin related 23). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Usher syndrome
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TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGACGGGACGCATTCCACACCAGGGAGCGCTGCAACCTCCACAGCCTGACAGGCCCAGAGGAGCCTTGCCCCCACATCCCCTGGGGAGCCACTTTGGGCTGGGGCTCTGGAGCCCCGCGGCTTGCCTGGACCCCAGAATTGGCAAGAGAGGGCTTAGGGAGCTCAGCTTCCACCTCTCCATCCAAACCTCTGTGCCAGTAACAGGGCACAGGCCTGTCTCCAGGCTTTAAGAAAAGTCTAAATGCAGCAAGTGTATTTGCCAGTTTGCTAAAATGGGAAAAACCCAAGAGACTGATGGGTAAACGTTAGCATGCATTCATTCCACAAGTGCCTTTGAGCATTTAGGGGGCAGCCCCAGGGGCCCATGAATCTTGTGAACTCTCAGGCTTCACTGGGGGTATCACTTCCTGATCATTCCCCCTCTGCCCTGAGCGGGATGGGAACCAGCCTTGCAGGGACTATCCCCTTAGACCACGGAGAGTCTTTGGGGCCAGGGTGACCTCGCAGCCACCCTCTCACCAGGAACAGGTTTCTAAGAGGAGTCCCACAACATACCCTAAGCAACCAAGATGTGAGGGTGGGCTTCCCTTGCCAGCCACTGGTTCAAGAGAAAAGGGCCCATGTGCCAAGCTGGCCACTGGGCTAGGGGTGGGCTCTGCACCATAAGCCAGAGCCTCTGCCTCTGGACTGAAAGCCAAGGTCAGTGACCTACTGGGCACCTGCAAGAGAGGTCAGAAGGAGGCTCTTACACATCACAGGCCGCCTGCCCAGTTGGAGGGGAGTCTGGGGGCGCAGGTGATCCCCTTGCCCCAAGTGCAGGCAGGAAGAGGAAGTAGAATCACTTTCTGAGCAGGCCAGACCTCAGGGAGTCAGTAAGCTGAATCTCCCACCTTCAGCCATGTCTCCTCCCCATGATCTGGAGACTTCAGTCACATCACATGCTTTCTGTGAGGAGAGTCAGGTAGCATCTGAGGGGCTCTGTGAGCCACAGCCCTGGTTAGAATAATCAGAAATGCCTGAACTTGAGTGAGGCACCCACCTCCCTGAAATGATGGGCTTGGGCCTCTGGGACACAGCAGAACCTGTGATGGGGTGGCCACCCTGTGCTCAGTCTGGGATCCTGGGCCCCCCGGGACTGGCAACAGTGTGGGATCCCTGGCCATTCACATTGCCACTCAGTCTCTGGGTTATTCCCATTTCACATGTCAGCAAACCAGTGTTCTCCCTGCTGGACACGTTCCAGAGGAGGAGGGGAAGAACAGCATCTGCATCCCTTGTGTCCTCTCCTGGCCAAGCCTGTCATGGCCGCTTAACTGCTTCTCTTCTCTCCACTCCCCTCACATCCTCTCTCCTCCTCCTTCCTCTGTCTCCCCGCTGGGTCTTGCAGCTGGCCGGTCCCTCCGCAGCTGGGGTCACTGGGACAGAGAAAGGGAGCAGGAAATGGAGAGTGAACCAAACCACCTGAAGGGGACACTGTGGGCATCCGACAGCACAAGGAAGGAAAAGAGAGCCAGAGGAGGTTTCCAGAGGGCCTAGACATGGGTGGGTCATGGAGTCTTGGAGCTGCTCTGGGAAAGCCCTGCTCTGTCCCAGCGCCTCATCCATTGCCCCAACCAAAGCAGCTCTGGGCTCACTCTCCAGGAGCCTCTGCTCCTCCATTTGGGTCTAGGCTTTGGCCACTGTGCCCTTCCTGACTGGCTTCTTCTGCACTCTTGACCCAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTGGGGAACAACTCCCACCACTTCATCATCTCCCCGACCTCCGTCCAGGGGAAGGCGGACATTCGTATTCGGGTGGCCATCCCACTGGACTACGAGACCGTGGACCGCTACGACTTTGATGTAAGGCCCCACTCACTGGCATTTTGGAGTGGGGTGGGGGGTGGATTTCAGGGGAGGCGAGGGTAGGGTAGAAGATTCCCTTAGATCCCACCTTCCACTGCTGCCCATCTTCCCTTGTGGATCTGACTCAGATAAGCCCTCCAAGAGACGGCAGGGGCCGGGCTGAGTCTCCCTTTTCCAAGGAGGAAAAGGATATGTCCAGTAATTGAGTGGAATTTTACCAGACTCCCATCAGGAGCCTCTGCAACCCATCTCCTGCCAGATCAGCCCCTGCTAGCTCCTCCTGCCCTAGCAGAATCAGCAGCCATCCCTAGAGCAATAACAGACGGGCTCGCAGTAGCACAGAGCTGGGATGGGCAGAGACTCTAACAGGTGCTCTGGGCTGGGGCCGGCAAAGGCATGGAGAGGACTTACAGGGACAAGGACTCTGGGAGGGGACATGTGGGAGCTTACCTGGGCCCCTGTTCTGCACCCCCAGCTCTTTGCCAATGAGAGTGTGCCTGACCATGTGGGCTATGCCAAGGTGAAGATCACTCTCATCAATGAAAATGACAACCGGCCCATCTTCAGCCAGCCACTGTACAACATCAGCCTGTACGAGAACGTCACCGTGGGGACCTCTGTGCTGACAGTCCTGGTGAGTCCCCGCTTCACTGCAGGGCCACTGAGCTCTCCAGGGCCGACTGTGGTGAGGCACCCAGAGGGATTTTGTCCAAGGGACCTCAGCAATCAGGGAAGGAGGCACCCCCAAATCCCTGAGCTGTGTTTGTTGGTGTATTAAATAAAGTTTTTGGACTCTTCAGGAAGGGGCTCCCTTGACCTAGGTTGCAATATGGAAAAGGAGCCAACCTGAGGGGTGACGAGACTGAGCTGAGGACACTGGTTTTCTGCCTTTCCCCGAGAGAGACTCAGTGAGGGTGGGCTGGGAGCCCTGGAAGCCCCCTCAAATGGGTGGGAAGGTGCCAGCCATCCTTGAGAAGGGCAACCCTCTCCATGTGAGCACAGGCACCAGAGAGGGGCAGGCGCCTGGAGGGTACCGGGGCACCCCCAGCTGCCCATGGCTGGACTTGCCCTTTGACAAGGGGCCCTCCCAGTGTCATTTGTATCTGTCAGTACTCTTGGTTGCAAGGGACAGAAACCCTTAAGTAGTTCAAGCAAAAAAGGATTGGCTCATGTAACTCAAAAGTATAAGTGATTTCAGGCCGGGCTCGGTGGCTCACGCCTGTCATCCAACACCTTGAGAAAGCCGAGGTGGGCGGATCACTTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGTCACTGCCCTCCAGCCTGGGCGACAGAGCCAGATTCTGTCTCAAAAAAAAAAAAAGTGCAAGTGATTTCAGGCACGGCTGCATCCAAGCACTCAGTTGAGCAGGGATCTGTCTTCAACACTGGGCTCTGCTTTTTTGTATTGGCAAAGAGGGGCACCAGCACCTCTAGGCTGACTTCTTACCAATTTATCACCCCTAGTGGGAAAAGTTCTTTTGCAGTAATTCCAGCAGATTCTCATCGGCCCAGTTGGTTGTGTCATCCTGGAACCAATTGTGATTCTGGTATGCCGGGGAGGGATCACACTCCCCCTAGTGGACCCAGGGGTTGGGGTCAGCCCCGCCTGAATTACACCGTCTGAGAATGGGGAAGGGGCTTCTATTCTAAGACAAGGGATTGAATGCTAAGCAGATCCAAGTGGTAGATGTGTGCTACACAAGCTCAGAGTCTTGCCCAGTCGGTGCTCAATAAA
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TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGACGGGACGCATTCCACACCAGGGAGCGCTGCAACCTCCACAGCCTGACAGGCCCAGAGGAGCCTTGCCCCCACATCCCCTGGGGAGCCACTTTGGGCTGGGGCTCTGGAGCCCCGCGGCTTGCCTGGACCCCAGAATTGGCAAGAGAGGGCTTAGGGAGCTCAGCTTCCACCTCTCCATCCAAACCTCTGTGCCAGTAACAGGGCACAGGCCTGTCTCCAGGCTTTAAGAAAAGTCTAAATGCAGCAAGTGTATTTGCCAGTTTGCTAAAATGGGAAAAACCCAAGAGACTGATGGGTAAACGTTAGCATGCATTCATTCCACAAGTGCCTTTGAGCATTTAGGGGGCAGCCCCAGGGGCCCATGAATCTTGTGAACTCTCAGGCTTCACTGGGGGTATCACTTCCTGATCATTCCCCCTCTGCCCTGAGCGGGATGGGAACCAGCCTTGCAGGGACTATCCCCTTAGACCACGGAGAGTCTTTGGGGCCAGGGTGACCTCGCAGCCACCCTCTCACCAGGAACAGGTTTCTAAGAGGAGTCCCACAACATACCCTAAGCAACCAAGATGTGAGGGTGGGCTTCCCTTGCCAGCCACTGGTTCAAGAGAAAAGGGCCCATGTGCCAAGCTGGCCACTGGGCTAGGGGTGGGCTCTGCACCATAAGCCAGAGCCTCTGCCTCTGGACTGAAAGCCAAGGTCAGTGACCTACTGGGCACCTGCAAGAGAGGTCAGAAGGAGGCTCTTACACATCACAGGCCGCCTGCCCAGTTGGAGGGGAGTCTGGGGGCGCAGGTGATCCCCTTGCCCCAAGTGCAGGCAGGAAGAGGAAGTAGAATCACTTTCTGAGCAGGCCAGACCTCAGGGAGTCAGTAAGCTGAATCTCCCACCTTCAGCCATGTCTCCTCCCCATGATCTGGAGACTTCAGTCACATCACATGCTTTCTGTGAGGAGAGTCAGGTAGCATCTGAGGGGCTCTGTGAGCCACAGCCCTGGTTAGAATAATCAGAAATGCCTGAACTTGAGTGAGGCACCCACCTCCCTGAAATGATGGGCTTGGGCCTCTGGGACACAGCAGAACCTGTGATGGGGTGGCCACCCTGTGCTCAGTCTGGGATCCTGGGCCCCCCGGGACTGGCAACAGTGTGGGATCCCTGGCCATTCACATTGCCACTCAGTCTCTGGGTTATTCCCATTTCACATGTCAGCAAACCAGTGTTCTCCCTGCTGGACACGTTCCAGAGGAGGAGGGGAAGAACAGCATCTGCATCCCTTGTGTCCTCTCCTGGCCAAGCCTGTCATGGCCGCTTAACTGCTTCTCTTCTCTCCACTCCCCTCACATCCTCTCTCCTCCTCCTTCCTCTGTCTCCCCGCTGGGTCTTGCAGCTGGCCGGTCCCTCCGCAGCTGGGGTCACTGGGACAGAGAAAGGGAGCAGGAAATGGAGAGTGAACCAAACCACCTGAAGGGGACACTGTGGGCATCCGACAGCACAAGGAAGGAAAAGAGAGCCAGAGGAGGTTTCCAGAGGGCCTAGACATGGGTGGGTCATGGAGTCTTGGAGCTGCTCTGGGAAAGCCCTGCTCTGTCCCAGCGCCTCATCCATTGCCCCAACCAAAGCAGCTCTGGGCTCACTCTCCAGGAGCCTCTGCTCCTCCATTTGGGTCTAGGCTTTGGCCACTGTGCCCTTCCTGACTGGCTTCTTCTGCACTCTTGACCCAGGGCCTGAACAGAATGTTTGAGGTGTACTTGGTGGGGAACAACTCCCACCACTTCATCATCTCCCCGACCTCCGTCCAGGGGAAGGCGGACATTCGTATTCGGGTGGCCATCCCACTGGACTACGAGACCGTGGACCGCTACGACTTTGATGTAAGGCCCCACTCACTGGCATTTTGGAGTGGGGTGGGGGGTGGATTTCAGGGGAGGCGAGGGTAGGGTAGAAGATTCCCTTAGATCCCACCTTCCACTGCTGCCCATCTTCCCTTGTGGATCTGACTCAGATAAGCCCTCCAAGAGACGGCAGGGGCCGGGCTGAGTCTCCCTTTTCCAAGGAGGAAAAGGATATGTCCAGTAATTGAGTGGAATTTTACCAGACTCCCATCAGGAGCCTCTGCAACCCATCTCCTGCCAGATCAGCCCCTGCTAGCTCCTCCTGCCCTAGCAGAATCAGCAGCCATCCCTAGAGCAATAACAGACGGGCTCGCAGTAGCACAGAGCTGGGATGGGCAGAGACTCTAACAGGTGCTCTGGGCTGGGGCCGGCAAAGGCATGGAGAGGACTTACAGGGACAAGGACTCTGGGAGGGGACATGTGGGAGCTTACCTGGGCCCCTGTTCTGCACCCCCAGCTCTTTGCCAATGAGAGTGTGCCTGACCATGTGGGCTATGCCAAGGTGAAGATCACTCTCATCAATGAAAATGACAACCGGCCCATCTTCAGCCAGCCACTGTACAACATCAGCCTGTACGAGAACGTCACCGTGGGGACCTCTGTGCTGACAGTCCTGGTGAGTCCCCGCTTCACTGCAGGGCCACTGAGCTCTCCAGGGCCGACTGTGGTGAGGCACCCAGAGGGATTTTGTCCAAGGGACCTCAGCAATCAGGGAAGGAGGCACCCCCAAATCCCTGAGCTGTGTTTGTTGGTGTATTAAATAAAGTTTTTGGACTCTTCAGGAAGGGGCTCCCTTGACCTAGGTTGCAATATGGAAAAGGAGCCAACCTGAGGGGTGACGAGACTGAGCTGAGGACACTGGTTTTCTGCCTTTCCCCGAGAGAGACTCAGTGAGGGTGGGCTGGGAGCCCTGGAAGCCCCCTCAAATGGGTGGGAAGGTGCCAGCCATCCTTGAGAAGGGCAACCCTCTCCATGTGAGCACAGGCACCAGAGAGGGGCAGGCGCCTGGAGGGTACCGGGGCACCCCCAGCTGCCCATGGCTGGACTTGCCCTTTGACAAGGGGCCCTCCCAGTGTCATTTGTATCTGTCAGTACTCTTGGTTGCAAGGGACAGAAACCCTTAAGTAGTTCAAGCAAAAAAGGATTGGCTCATGTAACTCAAAAGTATAAGTGATTTCAGGCCGGGCTCGGTGGCTCACGCCTGTCATCCAACACCTTGAGAAAGCCGAGGTGGGCGGATCACTTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGTCACTGCCCTCCAGCCTGGGCGACAGAGCCAGATTCTGTCTCAAAAAAAAAAAAAGTGCAAGTGATTTCAGGCACGGCTGCATCCAAGCACTCAGTTGAGCAGGGATCTGTCTTCAACACTGGGCTCTGCTTTTTTGTATTGGCAAAGAGGGGCACCAGCACCTCTAGGCTGACTTCTTACCAATTTATCACCCCTAGTGGGAAAAGTTCTTTTGCAGTAATTCCAGCAGATTCTCATCGGCCCAGTTGGTTGTGTCATCCTGGAACCAATTGTGATTCTGGTATGCCGGGGAGGGATCACACTCCCCCTAGTGGACCCAGGGGTTGGGGTCAGCCCCGCCTGAATTACACCGTCTGAGAATGGGGAAGGGGCTTCTATTCTAAGACAAGGGATTGAATGCTAAGCAGATCCAAGTGGTAGATGTGTGCTACACAAGCTCAGAGTCTTGCCCAGTCGGTGCTCAATAAA
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Task1_train_14019
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The gene CDH23 (cadherin related 23), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Rare genetic deafness
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ATCCCCTTAGACCACGGAGAGTCTTTGGGGCCAGGGTGACCTCGCAGCCACCCTCTCACCAGGAACAGGTTTCTAAGAGGAGTCCCACAACATACCCTAAGCAACCAAGATGTGAGGGTGGGCTTCCCTTGCCAGCCACTGGTTCAAGAGAAAAGGGCCCATGTGCCAAGCTGGCCACTGGGCTAGGGGTGGGCTCTGCACCATAAGCCAGAGCCTCTGCCTCTGGACTGAAAGCCAAGGTCAGTGACCTACTGGGCACCTGCAAGAGAGGTCAGAAGGAGGCTCTTACACATCACAGGCCGCCTGCCCAGTTGGAGGGGAGTCTGGGGGCGCAGGTGATCCCCTTGCCCCAAGTGCAGGCAGGAAGAGGAAGTAGAATCACTTTCTGAGCAGGCCAGACCTCAGGGAGTCAGTAAGCTGAATCTCCCACCTTCAGCCATGTCTCCTCCCCATGATCTGGAGACTTCAGTCACATCACATGCTTTCTGTGAGGAGAGTCAGGTAGCATCTGAGGGGCTCTGTGAGCCACAGCCCTGGTTAGAATAATCAGAAATGCCTGAACTTGAGTGAGGCACCCACCTCCCTGAAATGATGGGCTTGGGCCTCTGGGACACAGCAGAACCTGTGATGGGGTGGCCACCCTGTGCTCAGTCTGGGATCCTGGGCCCCCCGGGACTGGCAACAGTGTGGGATCCCTGGCCATTCACATTGCCACTCAGTCTCTGGGTTATTCCCATTTCACATGTCAGCAAACCAGTGTTCTCCCTGCTGGACACGTTCCAGAGGAGGAGGGGAAGAACAGCATCTGCATCCCTTGTGTCCTCTCCTGGCCAAGCCTGTCATGGCCGCTTAACTGCTTCTCTTCTCTCCACTCCCCTCACATCCTCTCTCCTCCTCCTTCCTCTGTCTCCCCGCTGGGTCTTGCAGCTGGCCGGTCCCTCCGCAGCTGGGGTCACTGGGACAGAGAAAGGGAGCAGGAAATGGAGAGTGAACCAAACCACCTGAAGGGGACACTGTGGGCATCCGACAGCACAAGGAAGGAAAAGAGAGCCAGAGGAGGTTTCCAGAGGGCCTAGACATGGGTGGGTCATGGAGTCTTGGAGCTGCTCTGGGAAAGCCCTGCTCTGTCCCAGCGCCTCATCCATTGCCCCAACCAAAGCAGCTCTGGGCTCACTCTCCAGGAGCCTCTGCTCCTCCATTTGGGTCTAGGCTTTGGCCACTGTGCCCTTCCTGACTGGCTTCTTCTGCACTCTTGACCCAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTGGGGAACAACTCCCACCACTTCATCATCTCCCCGACCTCCGTCCAGGGGAAGGCGGACATTCGTATTCGGGTGGCCATCCCACTGGACTACGAGACCGTGGACCGCTACGACTTTGATGTAAGGCCCCACTCACTGGCATTTTGGAGTGGGGTGGGGGGTGGATTTCAGGGGAGGCGAGGGTAGGGTAGAAGATTCCCTTAGATCCCACCTTCCACTGCTGCCCATCTTCCCTTGTGGATCTGACTCAGATAAGCCCTCCAAGAGACGGCAGGGGCCGGGCTGAGTCTCCCTTTTCCAAGGAGGAAAAGGATATGTCCAGTAATTGAGTGGAATTTTACCAGACTCCCATCAGGAGCCTCTGCAACCCATCTCCTGCCAGATCAGCCCCTGCTAGCTCCTCCTGCCCTAGCAGAATCAGCAGCCATCCCTAGAGCAATAACAGACGGGCTCGCAGTAGCACAGAGCTGGGATGGGCAGAGACTCTAACAGGTGCTCTGGGCTGGGGCCGGCAAAGGCATGGAGAGGACTTACAGGGACAAGGACTCTGGGAGGGGACATGTGGGAGCTTACCTGGGCCCCTGTTCTGCACCCCCAGCTCTTTGCCAATGAGAGTGTGCCTGACCATGTGGGCTATGCCAAGGTGAAGATCACTCTCATCAATGAAAATGACAACCGGCCCATCTTCAGCCAGCCACTGTACAACATCAGCCTGTACGAGAACGTCACCGTGGGGACCTCTGTGCTGACAGTCCTGGTGAGTCCCCGCTTCACTGCAGGGCCACTGAGCTCTCCAGGGCCGACTGTGGTGAGGCACCCAGAGGGATTTTGTCCAAGGGACCTCAGCAATCAGGGAAGGAGGCACCCCCAAATCCCTGAGCTGTGTTTGTTGGTGTATTAAATAAAGTTTTTGGACTCTTCAGGAAGGGGCTCCCTTGACCTAGGTTGCAATATGGAAAAGGAGCCAACCTGAGGGGTGACGAGACTGAGCTGAGGACACTGGTTTTCTGCCTTTCCCCGAGAGAGACTCAGTGAGGGTGGGCTGGGAGCCCTGGAAGCCCCCTCAAATGGGTGGGAAGGTGCCAGCCATCCTTGAGAAGGGCAACCCTCTCCATGTGAGCACAGGCACCAGAGAGGGGCAGGCGCCTGGAGGGTACCGGGGCACCCCCAGCTGCCCATGGCTGGACTTGCCCTTTGACAAGGGGCCCTCCCAGTGTCATTTGTATCTGTCAGTACTCTTGGTTGCAAGGGACAGAAACCCTTAAGTAGTTCAAGCAAAAAAGGATTGGCTCATGTAACTCAAAAGTATAAGTGATTTCAGGCCGGGCTCGGTGGCTCACGCCTGTCATCCAACACCTTGAGAAAGCCGAGGTGGGCGGATCACTTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGTCACTGCCCTCCAGCCTGGGCGACAGAGCCAGATTCTGTCTCAAAAAAAAAAAAAGTGCAAGTGATTTCAGGCACGGCTGCATCCAAGCACTCAGTTGAGCAGGGATCTGTCTTCAACACTGGGCTCTGCTTTTTTGTATTGGCAAAGAGGGGCACCAGCACCTCTAGGCTGACTTCTTACCAATTTATCACCCCTAGTGGGAAAAGTTCTTTTGCAGTAATTCCAGCAGATTCTCATCGGCCCAGTTGGTTGTGTCATCCTGGAACCAATTGTGATTCTGGTATGCCGGGGAGGGATCACACTCCCCCTAGTGGACCCAGGGGTTGGGGTCAGCCCCGCCTGAATTACACCGTCTGAGAATGGGGAAGGGGCTTCTATTCTAAGACAAGGGATTGAATGCTAAGCAGATCCAAGTGGTAGATGTGTGCTACACAAGCTCAGAGTCTTGCCCAGTCGGTGCTCAATAAATGTCACGGAGTTTAACTCATTGCTTTCTCCTCCTTGCACACCTGGGGCTCCCAGAGTCCTTGCTTCCATTTCTTGCTCCGTCCCAACTCCAAGCAGAGTGATACCAAGACCCCGCTCCGAAGTGTGTTTACTCTACAGACAGATGGTATGAAACTGCACTGAGCCCCCAGGCCCTTCCCCTCTGACAGTTATTAATATTTCAAACAGATGTTTAGCCAGTCAGGCTGTCAGACGTAAACAATAATTCTGCGGCAGCTGTTTTCTTCACCTCCCGCGTCTCTAGCCCATGACTCCTCCAGCTTTCACCAAGGTGCTCCCTGCAATAAATCACCAGGCGCTTGAGGCCCCCTGGACCTTCCTTCAGCCTCTCAGTGCCCAGCCAGAGAGCAAGTGCCAGAGGCTCTGGCCTTCTGGACCCAAAGTGTGTGTCTTTACCCACCATCCCCCTTCGAAGGACTGGGTAAAAGGCAGCCAACAGCCTATGCTTTAGAGGCCTCAGAGTGGAGGGGAGGCTCTGTCCCCTGTGGGTCTGGGACCACGTGGCAAAGAATTCTAGTGTCAGATCCAGGCTTAGTGGGTGTCAGGGGATTCCTTCCAGGTGTTCTTGCTTGGGACAGAGTTTCCTCACTTCGTAGTCCCAAGTTCCCATGGTCCTTGGAAAGGGATGGGGAAAACCTATAGAGCCGGGAGGAGATGTGAAATATGAGAAGGGGCATCCCTTGGTCGGTGGTGCCAAGGACAGCTGTGTCAGGCCCAGTCCAGTTTGGGGCTGGCGC
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ATCCCCTTAGACCACGGAGAGTCTTTGGGGCCAGGGTGACCTCGCAGCCACCCTCTCACCAGGAACAGGTTTCTAAGAGGAGTCCCACAACATACCCTAAGCAACCAAGATGTGAGGGTGGGCTTCCCTTGCCAGCCACTGGTTCAAGAGAAAAGGGCCCATGTGCCAAGCTGGCCACTGGGCTAGGGGTGGGCTCTGCACCATAAGCCAGAGCCTCTGCCTCTGGACTGAAAGCCAAGGTCAGTGACCTACTGGGCACCTGCAAGAGAGGTCAGAAGGAGGCTCTTACACATCACAGGCCGCCTGCCCAGTTGGAGGGGAGTCTGGGGGCGCAGGTGATCCCCTTGCCCCAAGTGCAGGCAGGAAGAGGAAGTAGAATCACTTTCTGAGCAGGCCAGACCTCAGGGAGTCAGTAAGCTGAATCTCCCACCTTCAGCCATGTCTCCTCCCCATGATCTGGAGACTTCAGTCACATCACATGCTTTCTGTGAGGAGAGTCAGGTAGCATCTGAGGGGCTCTGTGAGCCACAGCCCTGGTTAGAATAATCAGAAATGCCTGAACTTGAGTGAGGCACCCACCTCCCTGAAATGATGGGCTTGGGCCTCTGGGACACAGCAGAACCTGTGATGGGGTGGCCACCCTGTGCTCAGTCTGGGATCCTGGGCCCCCCGGGACTGGCAACAGTGTGGGATCCCTGGCCATTCACATTGCCACTCAGTCTCTGGGTTATTCCCATTTCACATGTCAGCAAACCAGTGTTCTCCCTGCTGGACACGTTCCAGAGGAGGAGGGGAAGAACAGCATCTGCATCCCTTGTGTCCTCTCCTGGCCAAGCCTGTCATGGCCGCTTAACTGCTTCTCTTCTCTCCACTCCCCTCACATCCTCTCTCCTCCTCCTTCCTCTGTCTCCCCGCTGGGTCTTGCAGCTGGCCGGTCCCTCCGCAGCTGGGGTCACTGGGACAGAGAAAGGGAGCAGGAAATGGAGAGTGAACCAAACCACCTGAAGGGGACACTGTGGGCATCCGACAGCACAAGGAAGGAAAAGAGAGCCAGAGGAGGTTTCCAGAGGGCCTAGACATGGGTGGGTCATGGAGTCTTGGAGCTGCTCTGGGAAAGCCCTGCTCTGTCCCAGCGCCTCATCCATTGCCCCAACCAAAGCAGCTCTGGGCTCACTCTCCAGGAGCCTCTGCTCCTCCATTTGGGTCTAGGCTTTGGCCACTGTGCCCTTCCTGACTGGCTTCTTCTGCACTCTTGACCCAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTGGGGAACAACTCCCACCACTTCATCATCTCCCCGACCTCCGTCCAGGGGAAGGCGGACATTCGTATTCGGGTGGCCATCCCACTGGACTACGAGACCGTGGACCGCTACGACTTTGATGTAAGGCCCCACTCACTGGCATTTTGGAGTGGGGTGGGGGGTGGATTTCAGGGGAGGCGAGGGTAGGGTAGAAGATTCCCTTAGATCCCACCTTCCACTGCTGCCCATCTTCCCTTGTGGATCTGACTCAGATAAGCCCTCCAAGAGACGGCAGGGGCCGGGCTGAGTCTCCCTTTTCCAAGGAGGAAAAGGATATGTCCAGTAATTGAGTGGAATTTTACCAGACTCCCATCAGGAGCCTCTGCAACCCATCTCCTGCCAGATCAGCCCCTGCTAGCTCCTCCTGCCCTAGCAGAATCAGCAGCCATCCCTAGAGCAATAACAGACGGGCTCGCAGTAGCACAGAGCTGGGATGGGCAGAGACTCTAACAGGTGCTCTGGGCTGGGGCCGGCAAAGGCATGGAGAGGACTTACAGGGACAAGGACTCTGGGAGGGGACATGTGGGAGCTTACCTGGGCCCCTGTTCTGCACCCCCAGCTCTTTGCCAATGAGAGTGTGCCTGACCATGTGGGCTATGCCAAGGTGAAGATCACTCTCATCAATGAAAATGACAACCGGCCCATCTTCAGCCAGCCACTGTACAACATCAGCCTGTACGAGAACGTCACCGTGGGGACCTCTGTGCTGACAGTCCTGTTGAGTCCCCGCTTCACTGCAGGGCCACTGAGCTCTCCAGGGCCGACTGTGGTGAGGCACCCAGAGGGATTTTGTCCAAGGGACCTCAGCAATCAGGGAAGGAGGCACCCCCAAATCCCTGAGCTGTGTTTGTTGGTGTATTAAATAAAGTTTTTGGACTCTTCAGGAAGGGGCTCCCTTGACCTAGGTTGCAATATGGAAAAGGAGCCAACCTGAGGGGTGACGAGACTGAGCTGAGGACACTGGTTTTCTGCCTTTCCCCGAGAGAGACTCAGTGAGGGTGGGCTGGGAGCCCTGGAAGCCCCCTCAAATGGGTGGGAAGGTGCCAGCCATCCTTGAGAAGGGCAACCCTCTCCATGTGAGCACAGGCACCAGAGAGGGGCAGGCGCCTGGAGGGTACCGGGGCACCCCCAGCTGCCCATGGCTGGACTTGCCCTTTGACAAGGGGCCCTCCCAGTGTCATTTGTATCTGTCAGTACTCTTGGTTGCAAGGGACAGAAACCCTTAAGTAGTTCAAGCAAAAAAGGATTGGCTCATGTAACTCAAAAGTATAAGTGATTTCAGGCCGGGCTCGGTGGCTCACGCCTGTCATCCAACACCTTGAGAAAGCCGAGGTGGGCGGATCACTTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGTCACTGCCCTCCAGCCTGGGCGACAGAGCCAGATTCTGTCTCAAAAAAAAAAAAAGTGCAAGTGATTTCAGGCACGGCTGCATCCAAGCACTCAGTTGAGCAGGGATCTGTCTTCAACACTGGGCTCTGCTTTTTTGTATTGGCAAAGAGGGGCACCAGCACCTCTAGGCTGACTTCTTACCAATTTATCACCCCTAGTGGGAAAAGTTCTTTTGCAGTAATTCCAGCAGATTCTCATCGGCCCAGTTGGTTGTGTCATCCTGGAACCAATTGTGATTCTGGTATGCCGGGGAGGGATCACACTCCCCCTAGTGGACCCAGGGGTTGGGGTCAGCCCCGCCTGAATTACACCGTCTGAGAATGGGGAAGGGGCTTCTATTCTAAGACAAGGGATTGAATGCTAAGCAGATCCAAGTGGTAGATGTGTGCTACACAAGCTCAGAGTCTTGCCCAGTCGGTGCTCAATAAATGTCACGGAGTTTAACTCATTGCTTTCTCCTCCTTGCACACCTGGGGCTCCCAGAGTCCTTGCTTCCATTTCTTGCTCCGTCCCAACTCCAAGCAGAGTGATACCAAGACCCCGCTCCGAAGTGTGTTTACTCTACAGACAGATGGTATGAAACTGCACTGAGCCCCCAGGCCCTTCCCCTCTGACAGTTATTAATATTTCAAACAGATGTTTAGCCAGTCAGGCTGTCAGACGTAAACAATAATTCTGCGGCAGCTGTTTTCTTCACCTCCCGCGTCTCTAGCCCATGACTCCTCCAGCTTTCACCAAGGTGCTCCCTGCAATAAATCACCAGGCGCTTGAGGCCCCCTGGACCTTCCTTCAGCCTCTCAGTGCCCAGCCAGAGAGCAAGTGCCAGAGGCTCTGGCCTTCTGGACCCAAAGTGTGTGTCTTTACCCACCATCCCCCTTCGAAGGACTGGGTAAAAGGCAGCCAACAGCCTATGCTTTAGAGGCCTCAGAGTGGAGGGGAGGCTCTGTCCCCTGTGGGTCTGGGACCACGTGGCAAAGAATTCTAGTGTCAGATCCAGGCTTAGTGGGTGTCAGGGGATTCCTTCCAGGTGTTCTTGCTTGGGACAGAGTTTCCTCACTTCGTAGTCCCAAGTTCCCATGGTCCTTGGAAAGGGATGGGGAAAACCTATAGAGCCGGGAGGAGATGTGAAATATGAGAAGGGGCATCCCTTGGTCGGTGGTGCCAAGGACAGCTGTGTCAGGCCCAGTCCAGTTTGGGGCTGGCGC
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Task1_train_14020
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Here’s a variant in CDH23 (cadherin related 23) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 12
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GCGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGACCGGCGGATCAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGTGCACCTGTAATCCCAGATACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGGGAGCCCAGGTTGCACCACTGCACTCCAGCCTGGTGACAGAGTGACACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAATTGCATTCTCTATGAAATCTACATCCCTCTGTCTTTCTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCATTGCAACCTCCGCCTTGTGGGTTCATACAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGATTACAGTCGTGCCACCACGCCCAGCTAATTTTTGTATTTCTAGTAGAGATGGGGTTTTGCTAATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGCCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCATCCCTCTTTCAAAAACTTAAAAGTTCCATGCTTCTGCCTGCCCCATACCTCACCCTCCTCTCAACTAGAAGAATCCCCCTTAGATTTTATATTACTAAAGCAATAATCTTGTTTCCCTTTTCCAAATAGAAAGTTGTAATTTAATATTGTTGTAATGCCTTCTAAGACCTCCCATGCCCCCCACTCCCAAGCCAATATACCTTCCCTCCCCAGTTGAGAATCAATGGCTTAGCACAAACAAGTACTAATGGAGAGATTTCAGTCGTGTGCAGTGGTAGGGATATTTCAGGGCACAGGCATCTATCTTAGCTCCCTGCAAATCCTGCCTCTCAGCCTGGGTCTGCCTTTGGCCTTAGGGTTCTTCGCCCACCTCTAAACAGAGTTCTGTTGAAGGTAAGGTCTGCAGCACCTAACCCCGAGTACCTCCCCATGGGGTCTAAACAGTGCCCAGAGTAGGTGACTGGATGGGTATGAAGAGCCCATAGCATAAAGTGGGGAGGAAATGGAGGGAAGAGAAGAGAGAGACGCCAGGGGCAGTGGCTCACGCCTGTAATCCTAGCACTTGGGGAGGCCGAGGCGGGAGGATTGCTTGAAGCAGAAGTTCGAGACCAGCCTAGGCAACACAGCCAGGCTCTGCTTCTACAAAGAAATTTTTTTAAATGAAAATAAATAAAGGAGAAGGGAGGGAAGAAGATTAGAGAAATAGGGCTAGAGACCGAGGAGGGTCCTGCCTTCTGCACCCCACTGCCTGGTCCTCCCTGGCATCCCCAGTGCTGGGCAACTTCTGGGGAACTCTGTGCTTACCTGGAGAGAGGAGTAGTGACAGGGAGGCCTGGAGGGCCCAAGGCATGACCCTGTCCTTCGAGCAGCTTCCAGACTGACGGGGAAAATCCATAAAGTGCCAGATGAGTGAGTGAGACAGACAGACAGACAGACAGACAAGCAGACAGGAGCACCTACTAAGAAAGAGCCTGGGTTCTGGATTCAGCCAAACCTAGGCTCATCTCCCCACTCTGTTGAGAGCTGTGTGACCTTGGGCAAGTTACTGAACATCTCTGAGCTTGGTTTCTTCATCTGTAAAAGTGGGGCTTACATTACCACCAGCTATCACCTGGTGGGCGCAGCACAGGGTCTGGCACATTTCAGGCAGTCAGGAAACCTCAGTCGAGATGTTGAGGCTCCAGGTGTTCAGAAAACAAGCCAGAGCTGGCCCGGGCCATGCCAGCCATAACTTCTCTGCCCAAAGGGGACCCCTGTCTGGACGGGCATCTCAAGTCTGCTTACAGAGGGATCTGGCCTGTTCCTGTCATTGCAGTGATCAGCGTCAGTCGCCCCCTGGATTATGAACAGATATCCAATGGGCTGATTTATCTGACGGTCATGGCCATGGATGCTGGCAACCCCCCTCTCAACAGCACCGTCCCTGTCACCATCGAGGTGTTTGTAAGTACCCAGGGCCACTGGCCTTGCCCTGCTAGTGTAAGGGATGGTGAGTGCTTCCTGTGAACCCAGTACTGTAGGACTGTGGCCCCCACCTCCTTGGCTGTCCCTGCACCTTGGGGAGTTTACCCAGCCATCTGTCCCAAAGCCTGCCCTTAGCAAGTCTCTCCACTGCTGCAACAACTTCACTGCCTCCCCGCTTGGCCAGGGAAGGCCCAGGGCCCTGGTACTCAGGAAGAGACACATTGTCTGCTCTGACTTCACTGGGGGCCCCAGGACACCCTCGGTGGGGAACAGGAGCTGGGAGTCAAGTGAGGAGGAAATGTCGTGGGCTTCCTTCATTTATGGCTGCATTCTGTGAAGAACAGAAGAATGACCAGAAGGTCATCTTCTCCCTTCTCTCTCTCTCTCTCTCTATCCTGCTCTTCCTTTTTTTCTTCCCTTTTCCACTCCTCTGAAGATCTAAAGCGGTCTGAAACCAAGCCACAGTTTCTCTGACATGAATATCAAGCACACCTTAGTATTTTCTGTGTCTGAAATTATCAGTTGCTGAATCCATCTCCACGCTGGTTCATTTGCCCAATGCCACACGGGGATGCAGAGAGTGGTATGACAGCGGGACCAATGGGCCCCTCCGCATGGAGACCTCCCCACACACACCTGTGCATGCACCGCCTGCCCCCTCCCCATCTGTGGGAGACAGCGAACGCGTGTTGATCGAAGAGTTAGTGCATTATCGGCTCCGGGAGGATTAGATCAGGTTGTCAGGTTCAGAGATGCGCTGTGATTTCACATAAGCTCAGGAAAATCTCACCCTGGAGCAGACATGCTGGAGAGCCTTCCTGTCACAGCCAGCTTCACCAGCAGCCTCTGCCACTGCCCACGCCCGGCCTTAACAAGCTCTGTCTTCTCAACCCGAGGCTGAAGCTCCAGGGCCAGCTTCCAAGCGGAAAGGCCATTGTCTGGGCCAGGGACCCAATTTGCTTGCTGAATAGGATGCAGCTGGAAGTGATGGGAAAGTCAAAGTGATGCCTGATGGGAGAGCCTTCCAGTTGGGCATGTGGGAGCAGAATTTAGGGGGGGCCAGGAGGATGAGGCTATACAGAACCAGGATAGCAAAGGGAAGGGCAGAGAGTTGGGGCCTGGCTTCTGGAGTCCTTGTGCCTGGCACCTCAGACTTCAGGGAGTGTTGGGGGAAGGAGGACAGGGACCAGGAGATCTTCAGAAACCTTAAAACTGACCTGGGCTGGGCGCGGTAATCCCAGCACCCTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGCTTGAGACTAGCCTGACCAACGTGGTGAAACTCCATCGCTACTAAAAATACAAAAATTAGCCAGGCATCGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACTCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTTCAGCCTGGGCAACAAAAGCAAAACTCCATCTCAAAAAACAAACAAACAAACAAACAACAACAAAAAAAAACGGCCTGACTCGAACCTGTAACCTCCCACCTAGAAACACCGAGGGTAGGGAACGATAATGCATTCCCTGGCAGTCATGACCATGGACTGGCACTTTACCCCATGGCCCGACCCTGACCACATCACCTAAACCTGGCCTTAGTTTCCCAGACTTGACCACAGCCCCCAAGCCTCCTCTAATCGTAGCTGCACTCACAACCCTGACCAACCCACCCATCGCTTTCAACCAGCCAGGATGCTGCTCTGCACAAGGAGGCAGTGAATTCTGTGCTGGGCCCCCAGTAGGACAGGAAGGTGAATGTGCAGCCTGCTCCACCCCCCCTGGAGACACCAAGTGGAAAGAGGGGTGTGGCTGTGGAAAGAGGGGTGTGGCTGTGGAGGCACATGGGTTTGAAACCTGGCTCTGCTGCCCTCTTGCTGTGTGACCTGGGTCTCTGAAACAACTTCCT
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GCGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGACCGGCGGATCAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGTGCACCTGTAATCCCAGATACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGGGAGCCCAGGTTGCACCACTGCACTCCAGCCTGGTGACAGAGTGACACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAATTGCATTCTCTATGAAATCTACATCCCTCTGTCTTTCTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCATTGCAACCTCCGCCTTGTGGGTTCATACAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGATTACAGTCGTGCCACCACGCCCAGCTAATTTTTGTATTTCTAGTAGAGATGGGGTTTTGCTAATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGCCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCATCCCTCTTTCAAAAACTTAAAAGTTCCATGCTTCTGCCTGCCCCATACCTCACCCTCCTCTCAACTAGAAGAATCCCCCTTAGATTTTATATTACTAAAGCAATAATCTTGTTTCCCTTTTCCAAATAGAAAGTTGTAATTTAATATTGTTGTAATGCCTTCTAAGACCTCCCATGCCCCCCACTCCCAAGCCAATATACCTTCCCTCCCCAGTTGAGAATCAATGGCTTAGCACAAACAAGTACTAATGGAGAGATTTCAGTCGTGTGCAGTGGTAGGGATATTTCAGGGCACAGGCATCTATCTTAGCTCCCTGCAAATCCTGCCTCTCAGCCTGGGTCTGCCTTTGGCCTTAGGGTTCTTCGCCCACCTCTAAACAGAGTTCTGTTGAAGGTAAGGTCTGCAGCACCTAACCCCGAGTACCTCCCCATGGGGTCTAAACAGTGCCCAGAGTAGGTGACTGGATGGGTATGAAGAGCCCATAGCATAAAGTGGGGAGGAAATGGAGGGAAGAGAAGAGAGAGACGCCAGGGGCAGTGGCTCACGCCTGTAATCCTAGCACTTGGGGAGGCCGAGGCGGGAGGATTGCTTGAAGCAGAAGTTCGAGACCAGCCTAGGCAACACAGCCAGGCTCTGCTTCTACAAAGAAATTTTTTTAAATGAAAATAAATAAAGGAGAAGGGAGGGAAGAAGATTAGAGAAATAGGGCTAGAGACCGAGGAGGGTCCTGCCTTCTGCACCCCACTGCCTGGTCCTCCCTGGCATCCCCAGTGCTGGGCAACTTCTGGGGAACTCTGTGCTTACCTGGAGAGAGGAGTAGTGACAGGGAGGCCTGGAGGGCCCAAGGCATGACCCTGTCCTTCGAGCAGCTTCCAGACTGACGGGGAAAATCCATAAAGTGCCAGATGAGTGAGTGAGACAGACAGACAGACAGACAGACAAGCAGACAGGAGCACCTACTAAGAAAGAGCCTGGGTTCTGGATTCAGCCAAACCTAGGCTCATCTCCCCACTCTGTTGAGAGCTGTGTGACCTTGGGCAAGTTACTGAACATCTCTGAGCTTGGTTTCTTCATCTGTAAAAGTGGGGCTTACATTACCACCAGCTATCACCTGGTGGGCGCAGCACAGGGTCTGGCACATTTCAGGCAGTCAGGAAACCTCAGTCGAGATGTTGAGGCTCCAGGTGTTCAGAAAACAAGCCAGAGCTGGCCCGGGCCATGCCAGCCATAACTTCTCTGCCCAAAGGGGACCCCTGTCTGGACGGGCATCTCAAGTCTGCTTACAGAGGGATCTGGCCTGTTCCTGTCATTGCAGTGATCAGCGTCAGTCGCCCCCTGGATTATGAACAGATATCCAATGGGCTGATTTATCTGACGGTCATGGCCATGGGTGCTGGCAACCCCCCTCTCAACAGCACCGTCCCTGTCACCATCGAGGTGTTTGTAAGTACCCAGGGCCACTGGCCTTGCCCTGCTAGTGTAAGGGATGGTGAGTGCTTCCTGTGAACCCAGTACTGTAGGACTGTGGCCCCCACCTCCTTGGCTGTCCCTGCACCTTGGGGAGTTTACCCAGCCATCTGTCCCAAAGCCTGCCCTTAGCAAGTCTCTCCACTGCTGCAACAACTTCACTGCCTCCCCGCTTGGCCAGGGAAGGCCCAGGGCCCTGGTACTCAGGAAGAGACACATTGTCTGCTCTGACTTCACTGGGGGCCCCAGGACACCCTCGGTGGGGAACAGGAGCTGGGAGTCAAGTGAGGAGGAAATGTCGTGGGCTTCCTTCATTTATGGCTGCATTCTGTGAAGAACAGAAGAATGACCAGAAGGTCATCTTCTCCCTTCTCTCTCTCTCTCTCTCTATCCTGCTCTTCCTTTTTTTCTTCCCTTTTCCACTCCTCTGAAGATCTAAAGCGGTCTGAAACCAAGCCACAGTTTCTCTGACATGAATATCAAGCACACCTTAGTATTTTCTGTGTCTGAAATTATCAGTTGCTGAATCCATCTCCACGCTGGTTCATTTGCCCAATGCCACACGGGGATGCAGAGAGTGGTATGACAGCGGGACCAATGGGCCCCTCCGCATGGAGACCTCCCCACACACACCTGTGCATGCACCGCCTGCCCCCTCCCCATCTGTGGGAGACAGCGAACGCGTGTTGATCGAAGAGTTAGTGCATTATCGGCTCCGGGAGGATTAGATCAGGTTGTCAGGTTCAGAGATGCGCTGTGATTTCACATAAGCTCAGGAAAATCTCACCCTGGAGCAGACATGCTGGAGAGCCTTCCTGTCACAGCCAGCTTCACCAGCAGCCTCTGCCACTGCCCACGCCCGGCCTTAACAAGCTCTGTCTTCTCAACCCGAGGCTGAAGCTCCAGGGCCAGCTTCCAAGCGGAAAGGCCATTGTCTGGGCCAGGGACCCAATTTGCTTGCTGAATAGGATGCAGCTGGAAGTGATGGGAAAGTCAAAGTGATGCCTGATGGGAGAGCCTTCCAGTTGGGCATGTGGGAGCAGAATTTAGGGGGGGCCAGGAGGATGAGGCTATACAGAACCAGGATAGCAAAGGGAAGGGCAGAGAGTTGGGGCCTGGCTTCTGGAGTCCTTGTGCCTGGCACCTCAGACTTCAGGGAGTGTTGGGGGAAGGAGGACAGGGACCAGGAGATCTTCAGAAACCTTAAAACTGACCTGGGCTGGGCGCGGTAATCCCAGCACCCTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGCTTGAGACTAGCCTGACCAACGTGGTGAAACTCCATCGCTACTAAAAATACAAAAATTAGCCAGGCATCGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACTCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTTCAGCCTGGGCAACAAAAGCAAAACTCCATCTCAAAAAACAAACAAACAAACAAACAACAACAAAAAAAAACGGCCTGACTCGAACCTGTAACCTCCCACCTAGAAACACCGAGGGTAGGGAACGATAATGCATTCCCTGGCAGTCATGACCATGGACTGGCACTTTACCCCATGGCCCGACCCTGACCACATCACCTAAACCTGGCCTTAGTTTCCCAGACTTGACCACAGCCCCCAAGCCTCCTCTAATCGTAGCTGCACTCACAACCCTGACCAACCCACCCATCGCTTTCAACCAGCCAGGATGCTGCTCTGCACAAGGAGGCAGTGAATTCTGTGCTGGGCCCCCAGTAGGACAGGAAGGTGAATGTGCAGCCTGCTCCACCCCCCCTGGAGACACCAAGTGGAAAGAGGGGTGTGGCTGTGGAAAGAGGGGTGTGGCTGTGGAGGCACATGGGTTTGAAACCTGGCTCTGCTGCCCTCTTGCTGTGTGACCTGGGTCTCTGAAACAACTTCCT
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Task1_train_14021
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A sequence alteration has been identified in CDH23 (cadherin related 23) on Chromosome 10. Is it disease-inducing or harmless?
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Pathogenic; Pituitary adenoma 5, multiple types
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TAGAGAGAGGGAGAGAGGCAAAGATGGAATTCTGGAAGTCATGTCCAAGTTTCTCAGGGCCTGATTATGGAGGTCTGGCCCAGGACCTTGGACCTTCCATTCCCTAAGCCTGCAGATGGTTCTAGAATACAAAGAAGGCCAGATGAGTGTAGCCCTGGGCATCTGCCTCTCCCATGCCTTCTCATAAGCCCCGGATCAGCTCCCTTTACTACAGTAGAGGGGCCTCTGTCTACTTTGCAGGGCTCTAAAGAGACTTGCCCAAGACCCCTTGGCCAAGCACATGGTCTGATCTTGGGCCTGGCTTCTTTGCCTCCTGTTCCATCATCCTCTGATTAGAGGGATCCTGAAGGTGCTGGTTTAGGGGAGATGACATCCAGGGTTTCAAGTCCTTTCAACACCTCTGCCCTCCGGGGGCCATTCAGAAACACTGGAGACCCTCCTGGTTAAGAGCATGGGCCGTGGAGTCCAACCAACGGGGATGTGAATCCCATCTCCAGCACCAGGGTGCTGTGTACTTGGAGCAAACTGCTTAACCTCTCTGAGTCTCAGCTTCTCATCTGTGAAATGGAGATAATAATAGTACCTGCCTGGCTGTGCTGTGGGGACTCAATCAGACACACGTATGAAGCACCCTGGAACTTGGACACAGGAAACACAGTAGCTGTGGTGATCACTGTGTGTCGGTCACGAGGGCTTATACCTGAGACACAATGGCTGTATCAGGTTAGCCTGTTCTCATTAGAAGAAGATGGGGTTGTTTGTCAGGATGCCAGAGGGGGTGAGCTTGGTGGTGCCCCACAGGCCCGCTGTGCCTCAGTTTCTTCATCTGTAGGAGGAGGTGAATGGTGTTCTTTGGCAGGTCCCCAAACTCCCAGCAGGGAGCGCCTCAATCCAGGGAACGGCAGTCGGTCCCCGAGGAAGCCCCCAGACCGGAGGGGAGGCGGGGTGAGAGCAAGTCAACCCCCAAACCCTGTTCTCTGGGGGCTCACAACCAGCGAAGAAAGATGCCCACCAATGCAACTTCTGAGTTCATAGAGGAAGGAGCGGGGAGCGTTTAACTTGGAAACTGTCCTCACATACACGATGAGGGCCCTCCCTTGAACTGTGGCTCCCTGGTCCCACCTAGGACCTCAGGAGATACAGATTTCTGCTGGTTGTGGAGAAGAGCGTTCTCCAGGGGGTAGAGCTGTGCGCAAGTAAAGTAAAAGTACTGAGCCCCCCGTCCTGGAAAGCATTCAAGCTGAGTCCAGACACCTCTCGTCCAGTTTGCTGGATGTGAAATAGATCAGACGACCTTGATATTGTCTCCCAATCCTGAGAGTCTTGGCTTAATCCAAAACTCTTATTTTATTTATTATTACACATTTCCCCAAATGCCTTGAATCCACTTCAGTAAAACATTCAGGGTACCAGGGTCTTGAGTCGGGCAATCTGATCAGGACTGGAGGTGCAGATGAGAACAGTGTAGGAATTTGGGAGGAGGCTTGCCTGTGCATGGCCACAAACAGTTTTTTAAAAAAATAATAATAATGAAATCCTCAAGTGACTTTTAAAAAAGAACCCTTGATGTAATTTTATTTTTGTTGTTACTATCTCACAAATCAAAGCAAAGCGGGGCAGGGGAAGTCTGTGAATCCAGCCTTCTACGTGGTTGAACTCCAGATAATGGTGGGGTCCTTAAGCTGGAACAGCTGCTCCAAATCTGGGAGGGCTTCCTAATGGGGAGAGCAGGGGATGAAGGGGAGAAAGCGCTGTAGAGACCTGAGCTCTTATTCTAAAAAGTCCCTCTGCCACCCCATCACCGGCCTCACTTGGTGCATCTGGACGCCTTTCAGCTGACATGCGACCCCCTTAGAGGGTGCCTGGGAGGGTGCCCTGGGGACAGTGGCCTGGCCTAAGGCTTGGAGGGGAGCAGATGTGTCTAGCTGCAGCCAAGTGTGGCTTGGCAGGGAGGAGGAGCACTTCTTGGGGGAGAAGCATCCATCCCAGTGTCCCCTCCCCACCCTCATGCTGCCCCTCCTTGCCCTCAGGTGGTGGCCATCGACCTCGATGAGGGCCTGAACGGCCTGGTGTCCTACCGCATGCCGGTGGGCATGCCCCGCATGGACTTCCTCATCAACAGCAGCAGCGGCGTGGTGGTCACCACCACCGAGCTGGACCGCGAGCGCATCGCGGAGTACCAGCTGCGGGTGGTGGCCAGTGATGCAGGCACGCCCACCAAGAGCTCCACCAGCACGCTCACCATCCATGGTGAGGGGGCGCAGGGGCTTCTGCTGTGTGCTCAGTGTGTGGGCACAGGCCTGGGTCAGGGGCAGGGGTAGAGGGGAGCCCATGTCCCCCACTGCTGTCTATTGGACTTGTAGGCACAGGCTCCCTTGTTAATGAGGTGCCCTCCCCAGCTGGAGCCATTCAACACAGCAGAGCCTTCTCCACACCTGACCACTGCCTTCAGTGCCCCAGAGCTCAGGGGCAGTGGCCTGGACCTGCTGCCAAAGCCCCATCAACCCCACCCCTCCTAGCCTCTGATCGTGGCAACAGCAGAGAGGGCTTGAGCAGGGCCCGGGACCCTCAGGGTCATGAACAGGCAGGGAGGGTGCAGAGCCCTTTGTCTTCTTTGGAAGGCCAGAGTTTTTGTTTGGGAGACATAAAGGAGACCTCCCCCTCCCATGGGTGTGGAACCCCTGGACTGGCAGTAGCAGGGCATCACCCTGGGAAGAGAGCAGCTGGGACTCCCAGACTCCCTAAGATCCTCATCCCCCTGGGACTCTCATGCTCATTCCCAGTGTCTCTGCCCTCTATTGGTGAAGGGACGGGGTACTGTTTCCACTCTGGATGAGTCTTTAATTTTCAGGACAGGATGCAGACATGAGCTGTTGCCAAGGGGCCAGGAATAACCCCAGGGAAATAAGGGCAGAGTTTAGCAGGCAAGACATGGCCTGTTCCCTGAGCCTGTTCAATCCCATCCTAGCTCTGCTGGCCTCCATGGGATGGTAGGGGGCGGGGGAGGGTGTAGTTAGCTCAGCACAGGCTCAGACACTGACCCTCTTCAGTTGAGACCTAAGATGGTGAGGATTTCAGAGAGCACAACATTCTCTCTCCCATTGGTCCGAAGCTTGCCTGTGGGTTTCTGTTGCCAGTTTCAGGACCCCCTTATTGGCCGATGATGGACAGGGAATATGTCCCAGCTTTAAGAGAGGACCCCTGGAGGGCCTTTCTCCAAGACTCAGCAGAAGCCATAACATCAAATGGGCCCAGGATCTCTCCTGGTGATACCATTCAGAGGAACCCAAGTGGGGTGGGGATCACTTCGCTATGAAGGTTGTCCAAGCCCCATCTGCCTGAGGAATAGGGGCCTAGCATGCAGAGCGGAGTAAACACATCTGTAAGGGAAATTAAACCTTATTTCGGGGGGTGGGATTTTCAAAGTGAGCTCCCTTTGCTGAAAGTCCGTTGCATGCTGAGGGTAGACCTTGAGGCTCCAGCCCTCCACTGTGCCACTGTGTGACTTTGGACAAGTCACTCAGCTGCTCTGAGCTCCCGCTTCCTCAGCTCCACAGTGTGTCTAATAATGCCCACCTCCTAGGGTGCTCAGAGGGCTGCATGTGGTCCTGTATGGGAAGCACTCAGCATGGGCTTGGCACGCTGGACAAGCTCGTAAATGGTCACTGTCGTCATCGTTGTCATGATTGTCCGTGTTGCCATGGTCGTTGTTAGGTGCGTACTGGAGAGAGGTTCTAAGGTTTTCTCTCCTCCCTTTGACAGCTGAGCAGCAATAAGCCCCCAGGGCACAGGGACAGCGGGAGGGTCTGGAGCACTGGTGGGCCTGGTCCTGGCCCCGGTGGGCATGGGGGGCCCTGGGCTTATGGCCAGGAGGTGTTGACACAGATGCCACTTGGAGCCCGTGACTCCCTTGGGAATTCATTCCCTACTTGGTCTGGTGCTGGAGACGCTGCTCTGGAGCTGGGTCTTCTGCGGCAGAAGCCAGGCCTAGCCCCGGCGCCCGTTCTGCCCCGCAGTGCTGGATGTGAACGACGAGACGCCCACCTTCTTCCCGGCCGTGTACAATGTGTCTGTGTCCGAGGACGTGCCACGCGAG
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TAGAGAGAGGGAGAGAGGCAAAGATGGAATTCTGGAAGTCATGTCCAAGTTTCTCAGGGCCTGATTATGGAGGTCTGGCCCAGGACCTTGGACCTTCCATTCCCTAAGCCTGCAGATGGTTCTAGAATACAAAGAAGGCCAGATGAGTGTAGCCCTGGGCATCTGCCTCTCCCATGCCTTCTCATAAGCCCCGGATCAGCTCCCTTTACTACAGTAGAGGGGCCTCTGTCTACTTTGCAGGGCTCTAAAGAGACTTGCCCAAGACCCCTTGGCCAAGCACATGGTCTGATCTTGGGCCTGGCTTCTTTGCCTCCTGTTCCATCATCCTCTGATTAGAGGGATCCTGAAGGTGCTGGTTTAGGGGAGATGACATCCAGGGTTTCAAGTCCTTTCAACACCTCTGCCCTCCGGGGGCCATTCAGAAACACTGGAGACCCTCCTGGTTAAGAGCATGGGCCGTGGAGTCCAACCAACGGGGATGTGAATCCCATCTCCAGCACCAGGGTGCTGTGTACTTGGAGCAAACTGCTTAACCTCTCTGAGTCTCAGCTTCTCATCTGTGAAATGGAGATAATAATAGTACCTGCCTGGCTGTGCTGTGGGGACTCAATCAGACACACGTATGAAGCACCCTGGAACTTGGACACAGGAAACACAGTAGCTGTGGTGATCACTGTGTGTCGGTCACGAGGGCTTATACCTGAGACACAATGGCTGTATCAGGTTAGCCTGTTCTCATTAGAAGAAGATGGGGTTGTTTGTCAGGATGCCAGAGGGGGTGAGCTTGGTGGTGCCCCACAGGCCCGCTGTGCCTCAGTTTCTTCATCTGTAGGAGGAGGTGAATGGTGTTCTTTGGCAGGTCCCCAAACTCCCAGCAGGGAGCGCCTCAATCCAGGGAACGGCAGTCGGTCCCCGAGGAAGCCCCCAGACCGGAGGGGAGGCGGGGTGAGAGCAAGTCAACCCCCAAACCCTGTTCTCTGGGGGCTCACAACCAGCGAAGAAAGATGCCCACCAATGCAACTTCTGAGTTCATAGAGGAAGGAGCGGGGAGCGTTTAACTTGGAAACTGTCCTCACATACACGATGAGGGCCCTCCCTTGAACTGTGGCTCCCTGGTCCCACCTAGGACCTCAGGAGATACAGATTTCTGCTGGTTGTGGAGAAGAGCGTTCTCCAGGGGGTAGAGCTGTGCGCAAGTAAAGTAAAAGTACTGAGCCCCCCGTCCTGGAAAGCATTCAAGCTGAGTCCAGACACCTCTCGTCCAGTTTGCTGGATGTGAAATAGATCAGACGACCTTGATATTGTCTCCCAATCCTGAGAGTCTTGGCTTAATCCAAAACTCTTATTTTATTTATTATTACACATTTCCCCAAATGCCTTGAATCCACTTCAGTAAAACATTCAGGGTACCAGGGTCTTGAGTCGGGCAATCTGATCAGGACTGGAGGTGCAGATGAGAACAGTGTAGGAATTTGGGAGGAGGCTTGCCTGTGCATGGCCACAAACAGTTTTTTAAAAAAATAATAATAATGAAATCCTCAAGTGACTTTTAAAAAAGAACCCTTGATGTAATTTTATTTTTGTTGTTACTATCTCACAAATCAAAGCAAAGCGGGGCAGGGGAAGTCTGTGAATCCAGCCTTCTACGTGGTTGAACTCCAGATAATGGTGGGGTCCTTAAGCTGGAACAGCTGCTCCAAATCTGGGAGGGCTTCCTAATGGGGAGAGCAGGGGATGAAGGGGAGAAAGCGCTGTAGAGACCTGAGCTCTTATTCTAAAAAGTCCCTCTGCCACCCCATCACCGGCCTCACTTGGTGCATCTGGACGCCTTTCAGCTGACATGCGACCCCCTTAGAGGGTGCCTGGGAGGGTGCCCTGGGGACAGTGGCCTGGCCTAAGGCTTGGAGGGGAGCAGATGTGTCTAGCTGCAGCCAAGTGTGGCTTGGCAGGGAGGAGGAGCACTTCTTGGGGGAGAAGCATCCATCCCAGTGTCCCCTCCCCACCCTCATGCTGCCCCTCCTTGCCCTCAGGTGGTGGCCATCGACCTCAATGAGGGCCTGAACGGCCTGGTGTCCTACCGCATGCCGGTGGGCATGCCCCGCATGGACTTCCTCATCAACAGCAGCAGCGGCGTGGTGGTCACCACCACCGAGCTGGACCGCGAGCGCATCGCGGAGTACCAGCTGCGGGTGGTGGCCAGTGATGCAGGCACGCCCACCAAGAGCTCCACCAGCACGCTCACCATCCATGGTGAGGGGGCGCAGGGGCTTCTGCTGTGTGCTCAGTGTGTGGGCACAGGCCTGGGTCAGGGGCAGGGGTAGAGGGGAGCCCATGTCCCCCACTGCTGTCTATTGGACTTGTAGGCACAGGCTCCCTTGTTAATGAGGTGCCCTCCCCAGCTGGAGCCATTCAACACAGCAGAGCCTTCTCCACACCTGACCACTGCCTTCAGTGCCCCAGAGCTCAGGGGCAGTGGCCTGGACCTGCTGCCAAAGCCCCATCAACCCCACCCCTCCTAGCCTCTGATCGTGGCAACAGCAGAGAGGGCTTGAGCAGGGCCCGGGACCCTCAGGGTCATGAACAGGCAGGGAGGGTGCAGAGCCCTTTGTCTTCTTTGGAAGGCCAGAGTTTTTGTTTGGGAGACATAAAGGAGACCTCCCCCTCCCATGGGTGTGGAACCCCTGGACTGGCAGTAGCAGGGCATCACCCTGGGAAGAGAGCAGCTGGGACTCCCAGACTCCCTAAGATCCTCATCCCCCTGGGACTCTCATGCTCATTCCCAGTGTCTCTGCCCTCTATTGGTGAAGGGACGGGGTACTGTTTCCACTCTGGATGAGTCTTTAATTTTCAGGACAGGATGCAGACATGAGCTGTTGCCAAGGGGCCAGGAATAACCCCAGGGAAATAAGGGCAGAGTTTAGCAGGCAAGACATGGCCTGTTCCCTGAGCCTGTTCAATCCCATCCTAGCTCTGCTGGCCTCCATGGGATGGTAGGGGGCGGGGGAGGGTGTAGTTAGCTCAGCACAGGCTCAGACACTGACCCTCTTCAGTTGAGACCTAAGATGGTGAGGATTTCAGAGAGCACAACATTCTCTCTCCCATTGGTCCGAAGCTTGCCTGTGGGTTTCTGTTGCCAGTTTCAGGACCCCCTTATTGGCCGATGATGGACAGGGAATATGTCCCAGCTTTAAGAGAGGACCCCTGGAGGGCCTTTCTCCAAGACTCAGCAGAAGCCATAACATCAAATGGGCCCAGGATCTCTCCTGGTGATACCATTCAGAGGAACCCAAGTGGGGTGGGGATCACTTCGCTATGAAGGTTGTCCAAGCCCCATCTGCCTGAGGAATAGGGGCCTAGCATGCAGAGCGGAGTAAACACATCTGTAAGGGAAATTAAACCTTATTTCGGGGGGTGGGATTTTCAAAGTGAGCTCCCTTTGCTGAAAGTCCGTTGCATGCTGAGGGTAGACCTTGAGGCTCCAGCCCTCCACTGTGCCACTGTGTGACTTTGGACAAGTCACTCAGCTGCTCTGAGCTCCCGCTTCCTCAGCTCCACAGTGTGTCTAATAATGCCCACCTCCTAGGGTGCTCAGAGGGCTGCATGTGGTCCTGTATGGGAAGCACTCAGCATGGGCTTGGCACGCTGGACAAGCTCGTAAATGGTCACTGTCGTCATCGTTGTCATGATTGTCCGTGTTGCCATGGTCGTTGTTAGGTGCGTACTGGAGAGAGGTTCTAAGGTTTTCTCTCCTCCCTTTGACAGCTGAGCAGCAATAAGCCCCCAGGGCACAGGGACAGCGGGAGGGTCTGGAGCACTGGTGGGCCTGGTCCTGGCCCCGGTGGGCATGGGGGGCCCTGGGCTTATGGCCAGGAGGTGTTGACACAGATGCCACTTGGAGCCCGTGACTCCCTTGGGAATTCATTCCCTACTTGGTCTGGTGCTGGAGACGCTGCTCTGGAGCTGGGTCTTCTGCGGCAGAAGCCAGGCCTAGCCCCGGCGCCCGTTCTGCCCCGCAGTGCTGGATGTGAACGACGAGACGCCCACCTTCTTCCCGGCCGTGTACAATGTGTCTGTGTCCGAGGACGTGCCACGCGAG
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Task1_train_14022
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With a mutation on Chromosome 10 in gene CDH23 (cadherin related 23), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 12
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GACTAGGTGGGGGCAGGTGAGGGTGGAAAAGAGGTCAGGGCTCTACTGTTGGGCTTTAGCCTCTGGTGGTGCCTCCCGAGGATTTGCTCCTGGCTCTTCCCAAGGGCTTTGCAGCTGGATCACTCTGGACTGGCTCCCTGGGGACCTCCTGAACCTGTTGGTTGCAGGGACGGGGAGCATCTACCAAGGTTCATTCTAGAGGGAGGTAAGGCCCCATGATTCCTAGGGAGGAGCCCTGAGCCCCACTCCCCGCCCCAAGTCTGGGTGACAGAGCAGTGACTTGGAGGAATGTGGCCTCATCCTTCCTTGGGGACCTGTTGAGAATTCCCACCTGTTTAGAGGCAGATGGTTTTGATCTCCCTAAATGAAATGGTTTTAGCTCAAAAATGTTGCCTGGCTGTTGTCTGCAGAGCTGTGGCCACAGATGATGAGGCCATGTCCTGGCTCACAGGGGAAAGTGAGCTGCAATGGATTAGTGATGTCTGCCACAGTGGTAGGATTGGTAGATGGTGGCGCACATGCCATGGGTTTGCCATTCCTGGATGAGAACACAGCTTCTTAGCCTCCCCGACACACGAGAGATGCTGGGACACATGGGGGTGCAGTCTTCCCCATTCCTCAACCCTCTTTGGCCCTTTTACTGGCTCAGTCTTCTCTCTGTCCATGACCTGCCTACCAACACACATGTTGCCTCTGCATATGTGTGCCTGTACACACGAGCAGGGCACACACCAGCCTTCCCAATGCCTCCCCATGAAGCAAGGATGCCCAGCTCACAGCCCATCTGTGGCTTTGCTGCGGCCAACGTGACCTCCCAGCCCTCAGCCTTCCCTTTCTTCCCTCACCTCCCTGAAGGGGCCCAGCACCCTCAGGCCCACTCCTTACAGTCTGGCCCTCAAGTCGGCCCTAGGGAGGGCTTAGTTACTAAGACCCCTCACATGGCACCAGCTCCGTGGCTCCACTGCCCACACTATTTACGTCCTAGTTCTGCCCTGGGCTCCCCGGGAGTCAGAGTGTGTCCCTTGCAGATGGTACTTCAGACACTGGGGAGCACTGGAGGTTTGGGGGTCAGGAGGCTTTCCCTAGGGGCAAACCAGCAAGAACAGGGGGAGCACCTGGCAGCCTGCAGGATGACTCTTCAGCACCCCAGAGTGGTGGGCTCCCGCTGACCTGCCCAGAGCCCTCCCGGATTTTCAGTGCACATTCTGCAAGGAGCTGAGCCCAGTCCTGCCCAAGCTCACCACAAAGCTGGTGCCGTGGCGCCCTCTGCTGCCCAGAACACCACACTGCTCGCCAGCTGGCAGGGGAGGGGTCTCCACGCTGTTCTGGGAGTTCCTTCCTGACTCCCGTCCACCGCGAGAGGAGACCCTCACACTTCCCACCTGTCCCAGAACTCAAGGAGACTCAGTAATCCCTGTCTCCTGTACACCTGCCTTGACTCCTCCCTCTGTGGAGCCTCCATGTCCCCACTCAGGAAGCTTCGCTCCTCAGCCCATCTCACCTCCGAGATGAGGGGCCTGGGGGATGCTCAGCCAACCCCAGAGTTCTCAGCAACATATACAAGCCCCTATGCAGGTTAGCTGCTCAGACGCTTCTGCAGGACGGGCAGGGAGCAGAGGGGTGAAGGATAAGCCCAGGGACCCACGCATGGAGAAACCCAGAGTGGCACAGGCACATCACTGAGTGAGGGGTTCTCCTCTGTGAGGTGGAGGCTAAATGAAATGGTCTGCATGAAGTACCTGTAAACAGGAGGTGCTTCGTGAAGGTTAGGAACGGATTCCAGGCATCTGGCACCCCCGCTGAGCCCACCCAAGCTGCACCCGCATCAGAGCACCTCAGGCAGGGCCGAATCAGCAGCACAGCCTCCCACTCCTGGACTCACCATCGCGGGTCCCAGCTCAGGAGCAGAGTCCCCGCTTCCCCTGGCCGGGAGCTCTGTTTCCCAGCCGGAAGCTTCCTCTCCTTCACCCACAGGTGGCAACGTGGATGGGAAGTTCAGCGTGGGTTACCGCGATGCCGTTGTGAGAACCGTGGTGGGCCTGGACCGGGAGACCACAGCCGCCTACATGCTCATCCTGGAGGCCATCGGTATGCACCAGTCCCGCACCCACCAACACAGTGATCTGGGCAGAGTTCACACAGGGTGCCTCCCAGGAGCTGGCCTTTTGCTAAAGGCTGAACTCTGCCCAGATGCCAGTGGAGAAAGGGCCACCAGGCACTCACCAAACATTACTCAGCACTTGCCGGGCATGAGGCTCACTGCATGGTGCCACATGCAAGACACTAGGATGGTAAGGTGGGAGCTACATGGGAGACCCACATGTAGACAAATTACTGCAAATCCAGGCAAGCCAGCAGGAAGGGAAAAGGATGACATAAGAGTATTGGGCAGTGGTGCAAACACAGAGTGGGAGAGGTCACGGGAGGCTTCCTTCACGAATCGGCATCTGGGAGTGCCTTTGAGTGAGTTAGGACCCTTTCAGTTGAAAATTTTAAAATAAAATAAACTGACTTCAGCAATATGGGCTCACAAAACCAGTCCACTGGGAGATGTAACTCCCAGTATGACTGGATTCAGGGCTCAGGTGACACCTCAGGCTTCAGTCTCTGCACTGGCTGGCGCTGCCTCCTGTGTGTTGATGTATTAGTCTGTTTTCACGCTGCTGATAAAGACATATCCGAGACTGGGTAATTTATACAGGAAAAAGGGTTTAATGGGACTTACAGTTCCACGTGGCTGGGGAGGCCACGTGGAACTCACAATCATGGCAGAAGGCAAGGAGGAGCAAGTCCTGTCTTACATGGATGGTAGCACGCAAAGAGAGAATGAGGAAGACGCAAAAGTAGAAACCCCTGATAAAACCATCAGATCTCATGAGACTTATTTACTACCACGAGAACAGTGTAGGAGAAAATGCCCCCATGATTCAATGATCTCCCGCTGGCTCCCTCCCACAACATGTGGAAATTATGGGAATACAATTCAAGATGAGATCTGGGTGGGGACGCAAAGCCAAACCATATCAGTTGGCTTTATTCTTCAACTCACATGGTGGCAGGTCGTTGCCCCAGCCTCACCTGTACACATTCTCAGGTTCAAGTGCAGCGGCATGGAAGACAGCACTTGTCTCTTTCCCCTCCCTGGCAGAAGCCCTCAGATCAGCTCTAGATAGATCCATTCTGCCCCAGTGCCCATTCCTGAGCCCCTCACTGTAGCCAGGGAAGTGAGATGTGCTGGTTACTTAAGCCTAAGTCACATGCCCATCCTGGGCCCTCCTGCTCCTGGGCTTTTCCTTCTTCAGGCCTCAGGGCAGCCTCACCCCCCACCCCAACCTCCAGGAAGACAGTGCCTAGTGGCCAGCAGGGCCTGCTGGTGAGGTGGATGGCTACAGGCTGAATCCAGCCTAGGATGTGCAGGGAGCTGGGGGCAGTCCCACCTACCCAGCATCCCAGGCCTCAAAGCCTGGAAGGGAGGGTCCACAGGGGGACATTCAGGACATGGCCTTCCCAGGGGAGCACAGGGCAGTGCTGATGGACAGAAACAAGGGGTGCCCACTGCAGCCTTGGAGGCCACATAAGGTTTCAGTACATGAAGAAGCAGGGAGGGCACTTCAGGCAGAGGCACCAGCCCATGCAAGGGCCTGGAGGTGGGAAAGTGCCTTGTGTGCACAAGCATGCGTGCATGCACCGCAGCTGGCCCATGGAGTGGCCCACACTGGGGAAGGGGAGGCTGTGATCAGGTAGGGCCATGTGTGGAGGCCTAAACATTGGCCAAGAAGTTTGGTCTTTGGTCTCTGGGCAGCAGGGAGCCCTTGAGGGCCCCAGAGGGGAAGAGTGGTATGATGAGACCTGTGCCGCCGGGTGCTCCTGGTCCTCCCAGGAAGTTTGCAGTGAGCTGAGTAAGAAGGGAATGAATTCTCTGGGCCTCACTCTTTCCAACCATCAATCCCTTCCCAGCCCGCCCATGCCCAGATGCCTCTGCCCTCTGCCCTGCTCTCCTCCCCTCCTGGAATGGCTGCCCACCCTCTGGAGACTTGTTATCACCCCTGAGTCCAGCCCTCACTTTGGGCATTGCCTGGCAGGAGGAGAGGGCTTC
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GACTAGGTGGGGGCAGGTGAGGGTGGAAAAGAGGTCAGGGCTCTACTGTTGGGCTTTAGCCTCTGGTGGTGCCTCCCGAGGATTTGCTCCTGGCTCTTCCCAAGGGCTTTGCAGCTGGATCACTCTGGACTGGCTCCCTGGGGACCTCCTGAACCTGTTGGTTGCAGGGACGGGGAGCATCTACCAAGGTTCATTCTAGAGGGAGGTAAGGCCCCATGATTCCTAGGGAGGAGCCCTGAGCCCCACTCCCCGCCCCAAGTCTGGGTGACAGAGCAGTGACTTGGAGGAATGTGGCCTCATCCTTCCTTGGGGACCTGTTGAGAATTCCCACCTGTTTAGAGGCAGATGGTTTTGATCTCCCTAAATGAAATGGTTTTAGCTCAAAAATGTTGCCTGGCTGTTGTCTGCAGAGCTGTGGCCACAGATGATGAGGCCATGTCCTGGCTCACAGGGGAAAGTGAGCTGCAATGGATTAGTGATGTCTGCCACAGTGGTAGGATTGGTAGATGGTGGCGCACATGCCATGGGTTTGCCATTCCTGGATGAGAACACAGCTTCTTAGCCTCCCCGACACACGAGAGATGCTGGGACACATGGGGGTGCAGTCTTCCCCATTCCTCAACCCTCTTTGGCCCTTTTACTGGCTCAGTCTTCTCTCTGTCCATGACCTGCCTACCAACACACATGTTGCCTCTGCATATGTGTGCCTGTACACACGAGCAGGGCACACACCAGCCTTCCCAATGCCTCCCCATGAAGCAAGGATGCCCAGCTCACAGCCCATCTGTGGCTTTGCTGCGGCCAACGTGACCTCCCAGCCCTCAGCCTTCCCTTTCTTCCCTCACCTCCCTGAAGGGGCCCAGCACCCTCAGGCCCACTCCTTACAGTCTGGCCCTCAAGTCGGCCCTAGGGAGGGCTTAGTTACTAAGACCCCTCACATGGCACCAGCTCCGTGGCTCCACTGCCCACACTATTTACGTCCTAGTTCTGCCCTGGGCTCCCCGGGAGTCAGAGTGTGTCCCTTGCAGATGGTACTTCAGACACTGGGGAGCACTGGAGGTTTGGGGGTCAGGAGGCTTTCCCTAGGGGCAAACCAGCAAGAACAGGGGGAGCACCTGGCAGCCTGCAGGATGACTCTTCAGCACCCCAGAGTGGTGGGCTCCCGCTGACCTGCCCAGAGCCCTCCCGGATTTTCAGTGCACATTCTGCAAGGAGCTGAGCCCAGTCCTGCCCAAGCTCACCACAAAGCTGGTGCCGTGGCGCCCTCTGCTGCCCAGAACACCACACTGCTCGCCAGCTGGCAGGGGAGGGGTCTCCACGCTGTTCTGGGAGTTCCTTCCTGACTCCCGTCCACCGCGAGAGGAGACCCTCACACTTCCCACCTGTCCCAGAACTCAAGGAGACTCAGTAATCCCTGTCTCCTGTACACCTGCCTTGACTCCTCCCTCTGTGGAGCCTCCATGTCCCCACTCAGGAAGCTTCGCTCCTCAGCCCATCTCACCTCCGAGATGAGGGGCCTGGGGGATGCTCAGCCAACCCCAGAGTTCTCAGCAACATATACAAGCCCCTATGCAGGTTAGCTGCTCAGACGCTTCTGCAGGACGGGCAGGGAGCAGAGGGGTGAAGGATAAGCCCAGGGACCCACGCATGGAGAAACCCAGAGTGGCACAGGCACATCACTGAGTGAGGGGTTCTCCTCTGTGAGGTGGAGGCTAAATGAAATGGTCTGCATGAAGTACCTGTAAACAGGAGGTGCTTCGTGAAGGTTAGGAACGGATTCCAGGCATCTGGCACCCCCGCTGAGCCCACCCAAGCTGCACCCGCATCAGAGCACCTCAGGCAGGGCCGAATCAGCAGCACAGCCTCCCACTCCTGGACTCACCATCGCGGGTCCCAGCTCAGGAGCAGAGTCCCCGCTTCCCCTGGCCGGGAGCTCTGTTTCCCAGCCGGAAGCTTCCTCTCCTTCACCCACAGGTGGCAACGTGGATGGGAAGTTCAGCGTGGGTTACCGCGATGCCGTTGTGAGAACCGTGGTGGGCCTGGACCGGAAGACCACAGCCGCCTACATGCTCATCCTGGAGGCCATCGGTATGCACCAGTCCCGCACCCACCAACACAGTGATCTGGGCAGAGTTCACACAGGGTGCCTCCCAGGAGCTGGCCTTTTGCTAAAGGCTGAACTCTGCCCAGATGCCAGTGGAGAAAGGGCCACCAGGCACTCACCAAACATTACTCAGCACTTGCCGGGCATGAGGCTCACTGCATGGTGCCACATGCAAGACACTAGGATGGTAAGGTGGGAGCTACATGGGAGACCCACATGTAGACAAATTACTGCAAATCCAGGCAAGCCAGCAGGAAGGGAAAAGGATGACATAAGAGTATTGGGCAGTGGTGCAAACACAGAGTGGGAGAGGTCACGGGAGGCTTCCTTCACGAATCGGCATCTGGGAGTGCCTTTGAGTGAGTTAGGACCCTTTCAGTTGAAAATTTTAAAATAAAATAAACTGACTTCAGCAATATGGGCTCACAAAACCAGTCCACTGGGAGATGTAACTCCCAGTATGACTGGATTCAGGGCTCAGGTGACACCTCAGGCTTCAGTCTCTGCACTGGCTGGCGCTGCCTCCTGTGTGTTGATGTATTAGTCTGTTTTCACGCTGCTGATAAAGACATATCCGAGACTGGGTAATTTATACAGGAAAAAGGGTTTAATGGGACTTACAGTTCCACGTGGCTGGGGAGGCCACGTGGAACTCACAATCATGGCAGAAGGCAAGGAGGAGCAAGTCCTGTCTTACATGGATGGTAGCACGCAAAGAGAGAATGAGGAAGACGCAAAAGTAGAAACCCCTGATAAAACCATCAGATCTCATGAGACTTATTTACTACCACGAGAACAGTGTAGGAGAAAATGCCCCCATGATTCAATGATCTCCCGCTGGCTCCCTCCCACAACATGTGGAAATTATGGGAATACAATTCAAGATGAGATCTGGGTGGGGACGCAAAGCCAAACCATATCAGTTGGCTTTATTCTTCAACTCACATGGTGGCAGGTCGTTGCCCCAGCCTCACCTGTACACATTCTCAGGTTCAAGTGCAGCGGCATGGAAGACAGCACTTGTCTCTTTCCCCTCCCTGGCAGAAGCCCTCAGATCAGCTCTAGATAGATCCATTCTGCCCCAGTGCCCATTCCTGAGCCCCTCACTGTAGCCAGGGAAGTGAGATGTGCTGGTTACTTAAGCCTAAGTCACATGCCCATCCTGGGCCCTCCTGCTCCTGGGCTTTTCCTTCTTCAGGCCTCAGGGCAGCCTCACCCCCCACCCCAACCTCCAGGAAGACAGTGCCTAGTGGCCAGCAGGGCCTGCTGGTGAGGTGGATGGCTACAGGCTGAATCCAGCCTAGGATGTGCAGGGAGCTGGGGGCAGTCCCACCTACCCAGCATCCCAGGCCTCAAAGCCTGGAAGGGAGGGTCCACAGGGGGACATTCAGGACATGGCCTTCCCAGGGGAGCACAGGGCAGTGCTGATGGACAGAAACAAGGGGTGCCCACTGCAGCCTTGGAGGCCACATAAGGTTTCAGTACATGAAGAAGCAGGGAGGGCACTTCAGGCAGAGGCACCAGCCCATGCAAGGGCCTGGAGGTGGGAAAGTGCCTTGTGTGCACAAGCATGCGTGCATGCACCGCAGCTGGCCCATGGAGTGGCCCACACTGGGGAAGGGGAGGCTGTGATCAGGTAGGGCCATGTGTGGAGGCCTAAACATTGGCCAAGAAGTTTGGTCTTTGGTCTCTGGGCAGCAGGGAGCCCTTGAGGGCCCCAGAGGGGAAGAGTGGTATGATGAGACCTGTGCCGCCGGGTGCTCCTGGTCCTCCCAGGAAGTTTGCAGTGAGCTGAGTAAGAAGGGAATGAATTCTCTGGGCCTCACTCTTTCCAACCATCAATCCCTTCCCAGCCCGCCCATGCCCAGATGCCTCTGCCCTCTGCCCTGCTCTCCTCCCCTCCTGGAATGGCTGCCCACCCTCTGGAGACTTGTTATCACCCCTGAGTCCAGCCCTCACTTTGGGCATTGCCTGGCAGGAGGAGAGGGCTTC
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Task1_train_14023
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Mutation context: Chromosome 10, Gene CDH23 (cadherin related 23). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Pituitary adenoma 5, multiple types
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GTACCTGTGATTCCAGCCGCAGTGGCCTGTGGCCGTCCGTGGACTGGAGGCCTCACCCGCGGCAGGCCTTCACTCTCCTGCCTCTCCACAAGAAGCCCGAGCCACAGACACAAAACAATATGCTCTTGCGTGCCATTTGTTGCATGCCCGGTTTTTATTTGACAGTCAGAAATTCACATGCCTTCCCCATCTGCCCTTCTACCCACTGGAACCAAGCCACCTTGCAGCCCCCTCCTGCTCCTGGGCCCATTTCCTTCCCTCTAAGCCCAAGGTTGCAAACAAAGACACCTTCGGGCAATATCTGGCCACCAGATGTGTTTTGGACAGCCCACACATAATATTCTTCTCTAAATTTTATTACTCATCAGCCAATTTCACTTTAAAATCTAGATTCCTTATTTTTCATGAAAAACAGGAAGCTTTGCTCATGCTAGACCAGCATTCCTAGCCTCCATCCACTTTAGCCATGGCCTGGCTTTTCAGTTCTCCTGTCCCCACCACCTCTGACAGTCTCCCCACCAGGCCTCTTCCCTTGCCCTCCTAGCCAAGATTTAAGTGTGTCTACCTGCCACCCCACACCAATCAGACTGCTAGGAGCCATGGGCCCAGGGCCTCCTTTGTAAAGTCAGGATAGGCTTCGGTGGGCTCTGAGGGTTTGCTGATGTTCCAGAACCCACTGGGGATCTGGTCCCTACTGGACCCACGGTGGGACCCAGGTGTTTGGGGCCAAGGAGGGGAAGGAGGCTGTAGGTCTCTGACCACGTTCACCCTCAGGTCTACATCACTGTGCTGGACGAGAATGACAACAGCCCCCGGTTTGACTTCACCTCCGACTCGGCGGTCAGCATACCCGAGGACTGCCCTGTGGGCCAGCGAGTGGCTACTGTCAAGGCCTGGGACCCTGATGCTGGCAGCAATGGGCAGGTGGGCCACCGAGTGAAACAGCCAGGATCCACCATGTCAGCGGGGCTCCCACAGCTCTCACAGCTGGAGGGGCCTTCTGAGCCACCCCCATCACCAAGCACCAGGTTCTTCCGGTCTCTGCCCCTGCAATCACCCAGTCTGTGGTCAGGGAGAAGGGACAGAGCTGCCTCAGAGCTATGCAGGCCGGTGGCCCTGCCTGGGTCATGTGGACATGGAGCCCGAAGGCCAGCCAAGGCGCAACCCCTCAGTGAAGTTGTTTTCCGGGTAACTCCTTCCCACGCAGCCCCAGCTCCCTGAGAGGACATGCTCGTCCTCTCTCCTGCTTCCTAGGCCCAGCCCCATGGCAGGAGGCGCTTGCTGTCGCTCCAGGTTTGGACACCCCAGAGTGCAGAGGGAGAAGTGATGAAACCCGCCAGTGTTCACACAGCTTTCATCTGTTCCGTGCATTAGGCCGTGTGTTTGCGGGTGTTAGCATGGCTTGCATGGTCTAGGGGGTCGAGGGATGCTGGCTTTGGAGACAAAAGTGTGTAGGTTCAGACCTCTGGCATTTGCAAGCTGTGTGACCTTGGCTGGTTGTTCCATGTTTCTGAGCCTCCTCTCTGTGAACTGAGAACAGTTGCTTTCTGTCAAGGTTGCCGTAAGAACCAAGTAGAGTCCAGGTAATGCCGCAGCGTGTGCCCACCCCAGCAGCGTGAGCACAATCCCCTCTACCCTGGGAAGACGTCAGTGCCATGGGACTCAAGCCCCACTCTTCCAGGCCAGGATACTGATATCTCCTAGCCCCGGAACTTTCCATGGGTGCTACACTACCTCCATGGGCCTGCACCCCCATTTTGAGGGAGATGAATCACTTCTGCTTAAAACACTGCACTCCCAAAAGCCCTTGCTCAACAGAGGGCCCACGTGGGCAGAGGAGGACCAGGGAGTCCCCCTTGGCTTGACCTGGCCACCTCTCCTCCACACCTGCTCACCCCTCACCCTCTCTTCTCCCCACAGGTGGTCTTCTCCCTGGCCTCTGGCAACATCGCGGGGGCCTTTGAGATCGTCACCACCAATGACTCCATTGGCGAAGTGTTTGTGGCCAGGCCCCTGGACAGAGAAGAGCTGGATCACTACATCCTCCAGGTGGGGCCTGGCCTCCCTTGGACTGAGAGACCACTGGCTAAGTGCCTAGACCGGTCACTACTCTCCATCCAGGAGAGAGCCTGTCCATCAGCACACTCTGGTGGTCAGTGCCCCTGCTGTCACCAAGTAACATGGGGCCAGCTGCACCCATCGGGGCCAAGAGCACAGTGAGGCTGACCCAGGATAGGGAAACCTGGGAGGGACCTTAGATACCCAGGAGGAGGTAGTTGAGGTGTCTTCCCCTGCTGTAAGAGCCAGGAGGATGAGGGAGAGCCTGGTGGAGCTGGGAGAGCCCCAGCTCTTCTACAAATACAGTGTGGCCTTGGACAGGTTATTAACTCTGGGCCTCATTTTCCCCACCTATGCAATGTACAAAAAAATCCCCGTCTGGCCTGCCCTGTGGAGGGAAGAAGCAAGTGCAGGCTTGAGGAGCCACGAAGGCTATCATTATTGCAGAATGGCCATGGCTGGGATGTTTGCCAAGGGCTTTCTGGGAACCTCAGGACTGCGCTTCTGCAGAGGGCTCAGCTCCTGCAGCACTTATGACTGCATCAAGGCTCCCAGGAACAGGCTCAGCCATAGGGCGCCAGCTCATTGCTTATAATATTACTTGAGGCTCTTTTCCCGTTTGCCAGAGATCATGGGACAGAGTGCGTGGGACAGAGGCCTTTGAAGCTAAAGACAGGAGCCTTGGGTCAGGTTGCAGGCCCAGGGTCATGGTCAAAGGCTGGCACAGCCCAGAATACAGTCAGAGGTAGGTCAGGAGGTCAAGGCTTGGGTACATGTTAATCAGATTCCAAACGAGGATCCCAAGTCAGACGACGATTGGGCAAGAATCATTTGCAGCATGGGGCAGAAGGTGAAGGCTTTGGGGAGAGCCCAGGGCTGGCCGGGAGAGCCCAGGGCTGGCCAGGCCACCCAGGGGTTCTCAGTGAGTCTCTTTGCCCTCCCAAATGCTCCCCACTGATTGCACAGCCCTTTTGGACTCCATATTCCCAATCCTGCCCGCCACGCTTTAGCCCTGACTCCAGTTGCCCTCCTCCTTGCAGGTTGTGGCTTCTGACCGAGGCACCCCTCCACGGAAGAAGGACCACATCCTGCAGGTGACCATCCTGGACATCAATGACAACCCTCCAGTCATCGAGAGCCCCTTTGGATACAATGTCAGTGTGAATGAGGTGAGGGCAGCCCCGGGGCCCATATAGCTGGACATACGGGGGGACCGTGGGCACGAGCCAACCATGCAGCCCCTGTTTAAATGTCTGCCTGGCCCACTGGTCCCTCAGATCTCATGGATGGGAACTGTGGCTCATTCGTAGTGATAGCCCTAACGCCTAGCCTGGATCCTAGAATGCAGTATCTTTTTGGAGTAGAGGAGAAGAGAAAAGAGAAAAAGAAGAAAGTTGCCTTTCACCAGACAGGAAACTGAGGTTTACCCCGGGAGCTTGCTTTTTTAAAAAATGTATTTATTATTCAGCCCTAAGACTGAGCCACTCCAATCTGCCCTGGCATTGCTGGGTATCATGCTAGGTTGGACGTTCATGAAGGCAGGATGACATGTGGCCAGAGTCTAGCTCTCAGGCCAGACTCCCTCACTTCAGCCCACTGATTGGCTGTGTGGACTTGCACACATTCCTTCCCTGCACCTCAGTTTTCTCTTCTGTAAATGAGGATGATGATGCCAGTACCTAACTCACAGAGTTGGAGAGAGGACCCAGTGAGTTAATGCAGGCCCCAGCATATCAGAGGTGCTCACAGAATGTTCGCTGCTATCATCCTTATTATCTCCATCATTGCTCTGGGGTAGATGCAGCAAAGCTTTTGGGAGGTACAGGGGGAGCCTTCGGGCTACAGGAGCAGGTGCCAGACTGTGCCCCAATGCCTTGAGTCCAGAATGACTGCTCTCCTGCTCTCCTCCCAGAACGTGGGTGGAGGTACTGCTGTGGTCCAGGTGAGAGCCACTGACCGTGACATCGGGATCAACAGTGTTCTGTCCTACTACATCACCGAGGGCAACAAGGACATGGCCTTCCGCATGGACCGCATC
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GTACCTGTGATTCCAGCCGCAGTGGCCTGTGGCCGTCCGTGGACTGGAGGCCTCACCCGCGGCAGGCCTTCACTCTCCTGCCTCTCCACAAGAAGCCCGAGCCACAGACACAAAACAATATGCTCTTGCGTGCCATTTGTTGCATGCCCGGTTTTTATTTGACAGTCAGAAATTCACATGCCTTCCCCATCTGCCCTTCTACCCACTGGAACCAAGCCACCTTGCAGCCCCCTCCTGCTCCTGGGCCCATTTCCTTCCCTCTAAGCCCAAGGTTGCAAACAAAGACACCTTCGGGCAATATCTGGCCACCAGATGTGTTTTGGACAGCCCACACATAATATTCTTCTCTAAATTTTATTACTCATCAGCCAATTTCACTTTAAAATCTAGATTCCTTATTTTTCATGAAAAACAGGAAGCTTTGCTCATGCTAGACCAGCATTCCTAGCCTCCATCCACTTTAGCCATGGCCTGGCTTTTCAGTTCTCCTGTCCCCACCACCTCTGACAGTCTCCCCACCAGGCCTCTTCCCTTGCCCTCCTAGCCAAGATTTAAGTGTGTCTACCTGCCACCCCACACCAATCAGACTGCTAGGAGCCATGGGCCCAGGGCCTCCTTTGTAAAGTCAGGATAGGCTTCGGTGGGCTCTGAGGGTTTGCTGATGTTCCAGAACCCACTGGGGATCTGGTCCCTACTGGACCCACGGTGGGACCCAGGTGTTTGGGGCCAAGGAGGGGAAGGAGGCTGTAGGTCTCTGACCACGTTCACCCTCAGGTCTACATCACTGTGCTGGACGAGAATGACAACAGCCCCCGGTTTGACTTCACCTCCGACTCGGCGGTCAGCATACCCGAGGACTGCCCTGTGGGCCAGCGAGTGGCTACTGTCAAGGCCTGGGACCCTGATGCTGGCAGCAATGGGCAGGTGGGCCACCGAGTGAAACAGCCAGGATCCACCATGTCAGCGGGGCTCCCACAGCTCTCACAGCTGGAGGGGCCTTCTGAGCCACCCCCATCACCAAGCACCAGGTTCTTCCGGTCTCTGCCCCTGCAATCACCCAGTCTGTGGTCAGGGAGAAGGGACAGAGCTGCCTCAGAGCTATGCAGGCCGGTGGCCCTGCCTGGGTCATGTGGACATGGAGCCCGAAGGCCAGCCAAGGCGCAACCCCTCAGTGAAGTTGTTTTCCGGGTAACTCCTTCCCACGCAGCCCCAGCTCCCTGAGAGGACATGCTCGTCCTCTCTCCTGCTTCCTAGGCCCAGCCCCATGGCAGGAGGCGCTTGCTGTCGCTCCAGGTTTGGACACCCCAGAGTGCAGAGGGAGAAGTGATGAAACCCGCCAGTGTTCACACAGCTTTCATCTGTTCCGTGCATTAGGCCGTGTGTTTGCGGGTGTTAGCATGGCTTGCATGGTCTAGGGGGTCGAGGGATGCTGGCTTTGGAGACAAAAGTGTGTAGGTTCAGACCTCTGGCATTTGCAAGCTGTGTGACCTTGGCTGGTTGTTCCATGTTTCTGAGCCTCCTCTCTGTGAACTGAGAACAGTTGCTTTCTGTCAAGGTTGCCGTAAGAACCAAGTAGAGTCCAGGTAATGCCGCAGCGTGTGCCCACCCCAGCAGCGTGAGCACAATCCCCTCTACCCTGGGAAGACGTCAGTGCCATGGGACTCAAGCCCCACTCTTCCAGGCCAGGATACTGATATCTCCTAGCCCCGGAACTTTCCATGGGTGCTACACTACCTCCATGGGCCTGCACCCCCATTTTGAGGGAGATGAATCACTTCTGCTTAAAACACTGCACTCCCAAAAGCCCTTGCTCAACAGAGGGCCCACGTGGGCAGAGGAGGACCAGGGAGTCCCCCTTGGCTTGACCTGGCCACCTCTCCTCCACACCTGCTCACCCCTCACCCTCTCTTCTCCCCACAGGTGGTCTTCTCCCTGGCCTCTGGCAACATCGCGGGGGCCTTTGAGATCGTCACCACCAATGACTCCATTGGCGAAGTGTTTGTGGCCAGGCCCCTGGACAGAGAAGAGCTGGATCACTACATCCTCCACGTGGGGCCTGGCCTCCCTTGGACTGAGAGACCACTGGCTAAGTGCCTAGACCGGTCACTACTCTCCATCCAGGAGAGAGCCTGTCCATCAGCACACTCTGGTGGTCAGTGCCCCTGCTGTCACCAAGTAACATGGGGCCAGCTGCACCCATCGGGGCCAAGAGCACAGTGAGGCTGACCCAGGATAGGGAAACCTGGGAGGGACCTTAGATACCCAGGAGGAGGTAGTTGAGGTGTCTTCCCCTGCTGTAAGAGCCAGGAGGATGAGGGAGAGCCTGGTGGAGCTGGGAGAGCCCCAGCTCTTCTACAAATACAGTGTGGCCTTGGACAGGTTATTAACTCTGGGCCTCATTTTCCCCACCTATGCAATGTACAAAAAAATCCCCGTCTGGCCTGCCCTGTGGAGGGAAGAAGCAAGTGCAGGCTTGAGGAGCCACGAAGGCTATCATTATTGCAGAATGGCCATGGCTGGGATGTTTGCCAAGGGCTTTCTGGGAACCTCAGGACTGCGCTTCTGCAGAGGGCTCAGCTCCTGCAGCACTTATGACTGCATCAAGGCTCCCAGGAACAGGCTCAGCCATAGGGCGCCAGCTCATTGCTTATAATATTACTTGAGGCTCTTTTCCCGTTTGCCAGAGATCATGGGACAGAGTGCGTGGGACAGAGGCCTTTGAAGCTAAAGACAGGAGCCTTGGGTCAGGTTGCAGGCCCAGGGTCATGGTCAAAGGCTGGCACAGCCCAGAATACAGTCAGAGGTAGGTCAGGAGGTCAAGGCTTGGGTACATGTTAATCAGATTCCAAACGAGGATCCCAAGTCAGACGACGATTGGGCAAGAATCATTTGCAGCATGGGGCAGAAGGTGAAGGCTTTGGGGAGAGCCCAGGGCTGGCCGGGAGAGCCCAGGGCTGGCCAGGCCACCCAGGGGTTCTCAGTGAGTCTCTTTGCCCTCCCAAATGCTCCCCACTGATTGCACAGCCCTTTTGGACTCCATATTCCCAATCCTGCCCGCCACGCTTTAGCCCTGACTCCAGTTGCCCTCCTCCTTGCAGGTTGTGGCTTCTGACCGAGGCACCCCTCCACGGAAGAAGGACCACATCCTGCAGGTGACCATCCTGGACATCAATGACAACCCTCCAGTCATCGAGAGCCCCTTTGGATACAATGTCAGTGTGAATGAGGTGAGGGCAGCCCCGGGGCCCATATAGCTGGACATACGGGGGGACCGTGGGCACGAGCCAACCATGCAGCCCCTGTTTAAATGTCTGCCTGGCCCACTGGTCCCTCAGATCTCATGGATGGGAACTGTGGCTCATTCGTAGTGATAGCCCTAACGCCTAGCCTGGATCCTAGAATGCAGTATCTTTTTGGAGTAGAGGAGAAGAGAAAAGAGAAAAAGAAGAAAGTTGCCTTTCACCAGACAGGAAACTGAGGTTTACCCCGGGAGCTTGCTTTTTTAAAAAATGTATTTATTATTCAGCCCTAAGACTGAGCCACTCCAATCTGCCCTGGCATTGCTGGGTATCATGCTAGGTTGGACGTTCATGAAGGCAGGATGACATGTGGCCAGAGTCTAGCTCTCAGGCCAGACTCCCTCACTTCAGCCCACTGATTGGCTGTGTGGACTTGCACACATTCCTTCCCTGCACCTCAGTTTTCTCTTCTGTAAATGAGGATGATGATGCCAGTACCTAACTCACAGAGTTGGAGAGAGGACCCAGTGAGTTAATGCAGGCCCCAGCATATCAGAGGTGCTCACAGAATGTTCGCTGCTATCATCCTTATTATCTCCATCATTGCTCTGGGGTAGATGCAGCAAAGCTTTTGGGAGGTACAGGGGGAGCCTTCGGGCTACAGGAGCAGGTGCCAGACTGTGCCCCAATGCCTTGAGTCCAGAATGACTGCTCTCCTGCTCTCCTCCCAGAACGTGGGTGGAGGTACTGCTGTGGTCCAGGTGAGAGCCACTGACCGTGACATCGGGATCAACAGTGTTCTGTCCTACTACATCACCGAGGGCAACAAGGACATGGCCTTCCGCATGGACCGCATC
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Task1_train_14024
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Given this variant in gene CDH23 (cadherin related 23) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Usher syndrome type 1D
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GTACCTGTGATTCCAGCCGCAGTGGCCTGTGGCCGTCCGTGGACTGGAGGCCTCACCCGCGGCAGGCCTTCACTCTCCTGCCTCTCCACAAGAAGCCCGAGCCACAGACACAAAACAATATGCTCTTGCGTGCCATTTGTTGCATGCCCGGTTTTTATTTGACAGTCAGAAATTCACATGCCTTCCCCATCTGCCCTTCTACCCACTGGAACCAAGCCACCTTGCAGCCCCCTCCTGCTCCTGGGCCCATTTCCTTCCCTCTAAGCCCAAGGTTGCAAACAAAGACACCTTCGGGCAATATCTGGCCACCAGATGTGTTTTGGACAGCCCACACATAATATTCTTCTCTAAATTTTATTACTCATCAGCCAATTTCACTTTAAAATCTAGATTCCTTATTTTTCATGAAAAACAGGAAGCTTTGCTCATGCTAGACCAGCATTCCTAGCCTCCATCCACTTTAGCCATGGCCTGGCTTTTCAGTTCTCCTGTCCCCACCACCTCTGACAGTCTCCCCACCAGGCCTCTTCCCTTGCCCTCCTAGCCAAGATTTAAGTGTGTCTACCTGCCACCCCACACCAATCAGACTGCTAGGAGCCATGGGCCCAGGGCCTCCTTTGTAAAGTCAGGATAGGCTTCGGTGGGCTCTGAGGGTTTGCTGATGTTCCAGAACCCACTGGGGATCTGGTCCCTACTGGACCCACGGTGGGACCCAGGTGTTTGGGGCCAAGGAGGGGAAGGAGGCTGTAGGTCTCTGACCACGTTCACCCTCAGGTCTACATCACTGTGCTGGACGAGAATGACAACAGCCCCCGGTTTGACTTCACCTCCGACTCGGCGGTCAGCATACCCGAGGACTGCCCTGTGGGCCAGCGAGTGGCTACTGTCAAGGCCTGGGACCCTGATGCTGGCAGCAATGGGCAGGTGGGCCACCGAGTGAAACAGCCAGGATCCACCATGTCAGCGGGGCTCCCACAGCTCTCACAGCTGGAGGGGCCTTCTGAGCCACCCCCATCACCAAGCACCAGGTTCTTCCGGTCTCTGCCCCTGCAATCACCCAGTCTGTGGTCAGGGAGAAGGGACAGAGCTGCCTCAGAGCTATGCAGGCCGGTGGCCCTGCCTGGGTCATGTGGACATGGAGCCCGAAGGCCAGCCAAGGCGCAACCCCTCAGTGAAGTTGTTTTCCGGGTAACTCCTTCCCACGCAGCCCCAGCTCCCTGAGAGGACATGCTCGTCCTCTCTCCTGCTTCCTAGGCCCAGCCCCATGGCAGGAGGCGCTTGCTGTCGCTCCAGGTTTGGACACCCCAGAGTGCAGAGGGAGAAGTGATGAAACCCGCCAGTGTTCACACAGCTTTCATCTGTTCCGTGCATTAGGCCGTGTGTTTGCGGGTGTTAGCATGGCTTGCATGGTCTAGGGGGTCGAGGGATGCTGGCTTTGGAGACAAAAGTGTGTAGGTTCAGACCTCTGGCATTTGCAAGCTGTGTGACCTTGGCTGGTTGTTCCATGTTTCTGAGCCTCCTCTCTGTGAACTGAGAACAGTTGCTTTCTGTCAAGGTTGCCGTAAGAACCAAGTAGAGTCCAGGTAATGCCGCAGCGTGTGCCCACCCCAGCAGCGTGAGCACAATCCCCTCTACCCTGGGAAGACGTCAGTGCCATGGGACTCAAGCCCCACTCTTCCAGGCCAGGATACTGATATCTCCTAGCCCCGGAACTTTCCATGGGTGCTACACTACCTCCATGGGCCTGCACCCCCATTTTGAGGGAGATGAATCACTTCTGCTTAAAACACTGCACTCCCAAAAGCCCTTGCTCAACAGAGGGCCCACGTGGGCAGAGGAGGACCAGGGAGTCCCCCTTGGCTTGACCTGGCCACCTCTCCTCCACACCTGCTCACCCCTCACCCTCTCTTCTCCCCACAGGTGGTCTTCTCCCTGGCCTCTGGCAACATCGCGGGGGCCTTTGAGATCGTCACCACCAATGACTCCATTGGCGAAGTGTTTGTGGCCAGGCCCCTGGACAGAGAAGAGCTGGATCACTACATCCTCCAGGTGGGGCCTGGCCTCCCTTGGACTGAGAGACCACTGGCTAAGTGCCTAGACCGGTCACTACTCTCCATCCAGGAGAGAGCCTGTCCATCAGCACACTCTGGTGGTCAGTGCCCCTGCTGTCACCAAGTAACATGGGGCCAGCTGCACCCATCGGGGCCAAGAGCACAGTGAGGCTGACCCAGGATAGGGAAACCTGGGAGGGACCTTAGATACCCAGGAGGAGGTAGTTGAGGTGTCTTCCCCTGCTGTAAGAGCCAGGAGGATGAGGGAGAGCCTGGTGGAGCTGGGAGAGCCCCAGCTCTTCTACAAATACAGTGTGGCCTTGGACAGGTTATTAACTCTGGGCCTCATTTTCCCCACCTATGCAATGTACAAAAAAATCCCCGTCTGGCCTGCCCTGTGGAGGGAAGAAGCAAGTGCAGGCTTGAGGAGCCACGAAGGCTATCATTATTGCAGAATGGCCATGGCTGGGATGTTTGCCAAGGGCTTTCTGGGAACCTCAGGACTGCGCTTCTGCAGAGGGCTCAGCTCCTGCAGCACTTATGACTGCATCAAGGCTCCCAGGAACAGGCTCAGCCATAGGGCGCCAGCTCATTGCTTATAATATTACTTGAGGCTCTTTTCCCGTTTGCCAGAGATCATGGGACAGAGTGCGTGGGACAGAGGCCTTTGAAGCTAAAGACAGGAGCCTTGGGTCAGGTTGCAGGCCCAGGGTCATGGTCAAAGGCTGGCACAGCCCAGAATACAGTCAGAGGTAGGTCAGGAGGTCAAGGCTTGGGTACATGTTAATCAGATTCCAAACGAGGATCCCAAGTCAGACGACGATTGGGCAAGAATCATTTGCAGCATGGGGCAGAAGGTGAAGGCTTTGGGGAGAGCCCAGGGCTGGCCGGGAGAGCCCAGGGCTGGCCAGGCCACCCAGGGGTTCTCAGTGAGTCTCTTTGCCCTCCCAAATGCTCCCCACTGATTGCACAGCCCTTTTGGACTCCATATTCCCAATCCTGCCCGCCACGCTTTAGCCCTGACTCCAGTTGCCCTCCTCCTTGCAGGTTGTGGCTTCTGACCGAGGCACCCCTCCACGGAAGAAGGACCACATCCTGCAGGTGACCATCCTGGACATCAATGACAACCCTCCAGTCATCGAGAGCCCCTTTGGATACAATGTCAGTGTGAATGAGGTGAGGGCAGCCCCGGGGCCCATATAGCTGGACATACGGGGGGACCGTGGGCACGAGCCAACCATGCAGCCCCTGTTTAAATGTCTGCCTGGCCCACTGGTCCCTCAGATCTCATGGATGGGAACTGTGGCTCATTCGTAGTGATAGCCCTAACGCCTAGCCTGGATCCTAGAATGCAGTATCTTTTTGGAGTAGAGGAGAAGAGAAAAGAGAAAAAGAAGAAAGTTGCCTTTCACCAGACAGGAAACTGAGGTTTACCCCGGGAGCTTGCTTTTTTAAAAAATGTATTTATTATTCAGCCCTAAGACTGAGCCACTCCAATCTGCCCTGGCATTGCTGGGTATCATGCTAGGTTGGACGTTCATGAAGGCAGGATGACATGTGGCCAGAGTCTAGCTCTCAGGCCAGACTCCCTCACTTCAGCCCACTGATTGGCTGTGTGGACTTGCACACATTCCTTCCCTGCACCTCAGTTTTCTCTTCTGTAAATGAGGATGATGATGCCAGTACCTAACTCACAGAGTTGGAGAGAGGACCCAGTGAGTTAATGCAGGCCCCAGCATATCAGAGGTGCTCACAGAATGTTCGCTGCTATCATCCTTATTATCTCCATCATTGCTCTGGGGTAGATGCAGCAAAGCTTTTGGGAGGTACAGGGGGAGCCTTCGGGCTACAGGAGCAGGTGCCAGACTGTGCCCCAATGCCTTGAGTCCAGAATGACTGCTCTCCTGCTCTCCTCCCAGAACGTGGGTGGAGGTACTGCTGTGGTCCAGGTGAGAGCCACTGACCGTGACATCGGGATCAACAGTGTTCTGTCCTACTACATCACCGAGGGCAACAAGGACATGGCCTTCCGCATGGACCGCATC
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GTACCTGTGATTCCAGCCGCAGTGGCCTGTGGCCGTCCGTGGACTGGAGGCCTCACCCGCGGCAGGCCTTCACTCTCCTGCCTCTCCACAAGAAGCCCGAGCCACAGACACAAAACAATATGCTCTTGCGTGCCATTTGTTGCATGCCCGGTTTTTATTTGACAGTCAGAAATTCACATGCCTTCCCCATCTGCCCTTCTACCCACTGGAACCAAGCCACCTTGCAGCCCCCTCCTGCTCCTGGGCCCATTTCCTTCCCTCTAAGCCCAAGGTTGCAAACAAAGACACCTTCGGGCAATATCTGGCCACCAGATGTGTTTTGGACAGCCCACACATAATATTCTTCTCTAAATTTTATTACTCATCAGCCAATTTCACTTTAAAATCTAGATTCCTTATTTTTCATGAAAAACAGGAAGCTTTGCTCATGCTAGACCAGCATTCCTAGCCTCCATCCACTTTAGCCATGGCCTGGCTTTTCAGTTCTCCTGTCCCCACCACCTCTGACAGTCTCCCCACCAGGCCTCTTCCCTTGCCCTCCTAGCCAAGATTTAAGTGTGTCTACCTGCCACCCCACACCAATCAGACTGCTAGGAGCCATGGGCCCAGGGCCTCCTTTGTAAAGTCAGGATAGGCTTCGGTGGGCTCTGAGGGTTTGCTGATGTTCCAGAACCCACTGGGGATCTGGTCCCTACTGGACCCACGGTGGGACCCAGGTGTTTGGGGCCAAGGAGGGGAAGGAGGCTGTAGGTCTCTGACCACGTTCACCCTCAGGTCTACATCACTGTGCTGGACGAGAATGACAACAGCCCCCGGTTTGACTTCACCTCCGACTCGGCGGTCAGCATACCCGAGGACTGCCCTGTGGGCCAGCGAGTGGCTACTGTCAAGGCCTGGGACCCTGATGCTGGCAGCAATGGGCAGGTGGGCCACCGAGTGAAACAGCCAGGATCCACCATGTCAGCGGGGCTCCCACAGCTCTCACAGCTGGAGGGGCCTTCTGAGCCACCCCCATCACCAAGCACCAGGTTCTTCCGGTCTCTGCCCCTGCAATCACCCAGTCTGTGGTCAGGGAGAAGGGACAGAGCTGCCTCAGAGCTATGCAGGCCGGTGGCCCTGCCTGGGTCATGTGGACATGGAGCCCGAAGGCCAGCCAAGGCGCAACCCCTCAGTGAAGTTGTTTTCCGGGTAACTCCTTCCCACGCAGCCCCAGCTCCCTGAGAGGACATGCTCGTCCTCTCTCCTGCTTCCTAGGCCCAGCCCCATGGCAGGAGGCGCTTGCTGTCGCTCCAGGTTTGGACACCCCAGAGTGCAGAGGGAGAAGTGATGAAACCCGCCAGTGTTCACACAGCTTTCATCTGTTCCGTGCATTAGGCCGTGTGTTTGCGGGTGTTAGCATGGCTTGCATGGTCTAGGGGGTCGAGGGATGCTGGCTTTGGAGACAAAAGTGTGTAGGTTCAGACCTCTGGCATTTGCAAGCTGTGTGACCTTGGCTGGTTGTTCCATGTTTCTGAGCCTCCTCTCTGTGAACTGAGAACAGTTGCTTTCTGTCAAGGTTGCCGTAAGAACCAAGTAGAGTCCAGGTAATGCCGCAGCGTGTGCCCACCCCAGCAGCGTGAGCACAATCCCCTCTACCCTGGGAAGACGTCAGTGCCATGGGACTCAAGCCCCACTCTTCCAGGCCAGGATACTGATATCTCCTAGCCCCGGAACTTTCCATGGGTGCTACACTACCTCCATGGGCCTGCACCCCCATTTTGAGGGAGATGAATCACTTCTGCTTAAAACACTGCACTCCCAAAAGCCCTTGCTCAACAGAGGGCCCACGTGGGCAGAGGAGGACCAGGGAGTCCCCCTTGGCTTGACCTGGCCACCTCTCCTCCACACCTGCTCACCCCTCACCCTCTCTTCTCCCCACAGGTGGTCTTCTCCCTGGCCTCTGGCAACATCGCGGGGGCCTTTGAGATCGTCACCACCAATGACTCCATTGGCGAAGTGTTTGTGGCCAGGCCCCTGGACAGAGAAGAGCTGGATCACTACATCCTCCACGTGGGGCCTGGCCTCCCTTGGACTGAGAGACCACTGGCTAAGTGCCTAGACCGGTCACTACTCTCCATCCAGGAGAGAGCCTGTCCATCAGCACACTCTGGTGGTCAGTGCCCCTGCTGTCACCAAGTAACATGGGGCCAGCTGCACCCATCGGGGCCAAGAGCACAGTGAGGCTGACCCAGGATAGGGAAACCTGGGAGGGACCTTAGATACCCAGGAGGAGGTAGTTGAGGTGTCTTCCCCTGCTGTAAGAGCCAGGAGGATGAGGGAGAGCCTGGTGGAGCTGGGAGAGCCCCAGCTCTTCTACAAATACAGTGTGGCCTTGGACAGGTTATTAACTCTGGGCCTCATTTTCCCCACCTATGCAATGTACAAAAAAATCCCCGTCTGGCCTGCCCTGTGGAGGGAAGAAGCAAGTGCAGGCTTGAGGAGCCACGAAGGCTATCATTATTGCAGAATGGCCATGGCTGGGATGTTTGCCAAGGGCTTTCTGGGAACCTCAGGACTGCGCTTCTGCAGAGGGCTCAGCTCCTGCAGCACTTATGACTGCATCAAGGCTCCCAGGAACAGGCTCAGCCATAGGGCGCCAGCTCATTGCTTATAATATTACTTGAGGCTCTTTTCCCGTTTGCCAGAGATCATGGGACAGAGTGCGTGGGACAGAGGCCTTTGAAGCTAAAGACAGGAGCCTTGGGTCAGGTTGCAGGCCCAGGGTCATGGTCAAAGGCTGGCACAGCCCAGAATACAGTCAGAGGTAGGTCAGGAGGTCAAGGCTTGGGTACATGTTAATCAGATTCCAAACGAGGATCCCAAGTCAGACGACGATTGGGCAAGAATCATTTGCAGCATGGGGCAGAAGGTGAAGGCTTTGGGGAGAGCCCAGGGCTGGCCGGGAGAGCCCAGGGCTGGCCAGGCCACCCAGGGGTTCTCAGTGAGTCTCTTTGCCCTCCCAAATGCTCCCCACTGATTGCACAGCCCTTTTGGACTCCATATTCCCAATCCTGCCCGCCACGCTTTAGCCCTGACTCCAGTTGCCCTCCTCCTTGCAGGTTGTGGCTTCTGACCGAGGCACCCCTCCACGGAAGAAGGACCACATCCTGCAGGTGACCATCCTGGACATCAATGACAACCCTCCAGTCATCGAGAGCCCCTTTGGATACAATGTCAGTGTGAATGAGGTGAGGGCAGCCCCGGGGCCCATATAGCTGGACATACGGGGGGACCGTGGGCACGAGCCAACCATGCAGCCCCTGTTTAAATGTCTGCCTGGCCCACTGGTCCCTCAGATCTCATGGATGGGAACTGTGGCTCATTCGTAGTGATAGCCCTAACGCCTAGCCTGGATCCTAGAATGCAGTATCTTTTTGGAGTAGAGGAGAAGAGAAAAGAGAAAAAGAAGAAAGTTGCCTTTCACCAGACAGGAAACTGAGGTTTACCCCGGGAGCTTGCTTTTTTAAAAAATGTATTTATTATTCAGCCCTAAGACTGAGCCACTCCAATCTGCCCTGGCATTGCTGGGTATCATGCTAGGTTGGACGTTCATGAAGGCAGGATGACATGTGGCCAGAGTCTAGCTCTCAGGCCAGACTCCCTCACTTCAGCCCACTGATTGGCTGTGTGGACTTGCACACATTCCTTCCCTGCACCTCAGTTTTCTCTTCTGTAAATGAGGATGATGATGCCAGTACCTAACTCACAGAGTTGGAGAGAGGACCCAGTGAGTTAATGCAGGCCCCAGCATATCAGAGGTGCTCACAGAATGTTCGCTGCTATCATCCTTATTATCTCCATCATTGCTCTGGGGTAGATGCAGCAAAGCTTTTGGGAGGTACAGGGGGAGCCTTCGGGCTACAGGAGCAGGTGCCAGACTGTGCCCCAATGCCTTGAGTCCAGAATGACTGCTCTCCTGCTCTCCTCCCAGAACGTGGGTGGAGGTACTGCTGTGGTCCAGGTGAGAGCCACTGACCGTGACATCGGGATCAACAGTGTTCTGTCCTACTACATCACCGAGGGCAACAAGGACATGGCCTTCCGCATGGACCGCATC
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Task1_train_14025
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This genomic variant is located on Chromosome 10, within the CDH23 (cadherin related 23) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 12
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CCTCCCCAAGCCCAGACCTGGTCTCAGAGCAGGAGGGGCTCCAAGGCCCAACTCTGTTCAAACTCTCCACTCCCAGCCCCTGCAGCCTGCACACTCCATCATGTGTTTGTGCTTGTTTTCATTAAAAATAGTGGTGAAGGCCCCAAATATTCGAATAAAGATGACTGTCAAGGAAAGCCACCATGTCCATCTTGTGGCTCTGCAGGGCCTGGAGGCAGCTGTGAGTACTCTCTACTGGTGAGGGGCCCAGCCTTGAGCCTTCCTGAGTCCCCTTACTTGCCGGCAAGAATACAAGAGCACCACATTGCAGGAAAGGGGCTGAATTCCAGCCTCCCTGTTGGGGAGGGGATGCTGACATTTCCCACATTCCCAAACTCACCTCCCAAACTCCCTGAGCTAGAAACAACTTTAGAAATCAAGCCAGGTCCTTTATTAAACAGACAGAAAAGGTCCAGAGAGGGGATGTGACCTGCCCAAGGCCACGCAGCTCCTTTTCAAGGCTGCCAACCCTATCTGCTTTGGAAACCGTTTCAGCAAACACCCAATGCCCTCCACCCCCAAGATCCAGAGCTGCATATCAGAGGAATCATTGCCTCCTCAGGGGCAGTGACAGCCTTCTTGGGTCCAGATCCCCTGCCCATCTGTCCATTCTTCCAGTGGTAGCTCCAGAGCCAGCCAGTCCCAAGGAAAAAACCATATGCAAATTGCCTACATTGAGTTGTCTGTACCACCTGCTTTCTGTTCTCTGGCCTGGCAATGGCCTAGTCACGTTCTCTCTACCCAGACACCTTTGCAGTGATTAACACCTTATTATTTTATATTAGTCACTCATTATGATTTGTATTAGTTAGGGTCCTGGCAGGAAACAGATGGCACACTCAGAAAGGGTTCAACTGAAGAGAGTTTAATACAGGGACTGTTTAGGAAGGCTGGTAAAGCACCCAGAGACTAGCACCAACCACAGGAAGCCACTACCACTCACATGTCCAAAGGGAAAGAAGAGGAAGTGATGTTCTGGAGCCCAGTGAAAGCTGGTGCTATGAAAGGGGGACCCCTGTCCCCAAGCAGGAGAAACACAGCCATGGGCAGAACCGCAGTGAGGAATGGAGGGAGTGTGGAAGAAACACCCCCGCCTCTTTCTCCCCACTGCTTTCATCTTCAGCCAGGGCCTCCCATTGGCCACACCCAGCAGGAAGCTGGATAGCAAGGGAGCCAGGGTAAGGCAGTTAGTCCACAGGGGACATCTTCCCAGGTGGAGAAAGGCAGGAAGCAGGAGCAAGAACCATTTCTAGTTGATTCTTGAGTGCTGATTGCCGAGTTCTGATTAGCTGAATATTACTTGTGGTCCAATTGACTCAAGCATTGGCAGAGATGGCCGATCACAGGAGAGTATGTTGTAGAAGCTGTTCTTGGAATGAAGTTATGTTCTGTGAGTCTTATTTTTCACAGGTCAACAAGTTCTGCCCACGAAATTGCCACAAACCCAATGTCCTCCTTCTGGAAATGCTGAAAATATGTATTTCTTTCATTTACATGAACAATAGATGAAGGTTAAATATGGCATTGGGCCGAGTGCCTCACATTCTTGCCTCTTGTAGTCTGGCAGGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAG
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CCTCCCCAAGCCCAGACCTGGTCTCAGAGCAGGAGGGGCTCCAAGGCCCAACTCTGTTCAAACTCTCCACTCCCAGCCCCTGCAGCCTGCACACTCCATCATGTGTTTGTGCTTGTTTTCATTAAAAATAGTGGTGAAGGCCCCAAATATTCGAATAAAGATGACTGTCAAGGAAAGCCACCATGTCCATCTTGTGGCTCTGCAGGGCCTGGAGGCAGCTGTGAGTACTCTCTACTGGTGAGGGGCCCAGCCTTGAGCCTTCCTGAGTCCCCTTACTTGCCGGCAAGAATACAAGAGCACCACATTGCAGGAAAGGGGCTGAATTCCAGCCTCCCTGTTGGGGAGGGGATGCTGACATTTCCCACATTCCCAAACTCACCTCCCAAACTCCCTGAGCTAGAAACAACTTTAGAAATCAAGCCAGGTCCTTTATTAAACAGACAGAAAAGGTCCAGAGAGGGGATGTGACCTGCCCAAGGCCACGCAGCTCCTTTTCAAGGCTGCCAACCCTATCTGCTTTGGAAACCGTTTCAGCAAACACCCAATGCCCTCCACCCCCAAGATCCAGAGCTGCATATCAGAGGAATCATTGCCTCCTCAGGGGCAGTGACAGCCTTCTTGGGTCCAGATCCCCTGCCCATCTGTCCATTCTTCCAGTGGTAGCTCCAGAGCCAGCCAGTCCCAAGGAAAAAACCATATGCAAATTGCCTACATTGAGTTGTCTGTACCACCTGCTTTCTGTTCTCTGGCCTGGCAATGGCCTAGTCACGTTCTCTCTACCCAGACACCTTTGCAGTGATTAACACCTTATTATTTTATATTAGTCACTCATTATGATTTGTATTAGTTAGGGTCCTGGCAGGAAACAGATGGCACACTCAGAAAGGGTTCAACTGAAGAGAGTTTAATACAGGGACTGTTTAGGAAGGCTGGTAAAGCACCCAGAGACTAGCACCAACCACAGGAAGCCACTACCACTCACATGTCCAAAGGGAAAGAAGAGGAAGTGATGTTCTGGAGCCCAGTGAAAGCTGGTGCTATGAAAGGGGGACCCCTGTCCCCAAGCAGGAGAAACACAGCCATGGGCAGAACCGCAGTGAGGAATGGAGGGAGTGTGGAAGAAACACCCCCGCCTCTTTCTCCCCACTGCTTTCATCTTCAGCCAGGGCCTCCCATTGGCCACACCCAGCAGGAAGCTGGATAGCAAGGGAGCCAGGGTAAGGCAGTTAGTCCACAGGGGACATCTTCCCAGGTGGAGAAAGGCAGGAAGCAGGAGCAAGAACCATTTCTAGTTGATTCTTGAGTGCTGATTGCCGAGTTCTGATTAGCTGAATATTACTTGTGGTCCAATTGACTCAAGCATTGGCAGAGATGGCCGATCACAGGAGAGTATGTTGTAGAAGCTGTTCTTGGAATGAAGTTATGTTCTGTGAGTCTTATTTTTCACAGGTCAACAAGTTCTGCCCACGAAATTGCCACAAACCCAATGTCCTCCTTCTGGAAATGCTGAAAATATGTATTTCTTTCATTTACATGAACAATAGATGAAGGTTAAATATGGCATTGGGCCGAGTGCCTCACATTCTTGCCTCTTGTAGTCTGGCAGGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGCTGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAG
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Task1_train_14026
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A variant was discovered on Chromosome 10, affecting CDH23 (cadherin related 23). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Pituitary adenoma 5, multiple types
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CCAAGATCCAGAGCTGCATATCAGAGGAATCATTGCCTCCTCAGGGGCAGTGACAGCCTTCTTGGGTCCAGATCCCCTGCCCATCTGTCCATTCTTCCAGTGGTAGCTCCAGAGCCAGCCAGTCCCAAGGAAAAAACCATATGCAAATTGCCTACATTGAGTTGTCTGTACCACCTGCTTTCTGTTCTCTGGCCTGGCAATGGCCTAGTCACGTTCTCTCTACCCAGACACCTTTGCAGTGATTAACACCTTATTATTTTATATTAGTCACTCATTATGATTTGTATTAGTTAGGGTCCTGGCAGGAAACAGATGGCACACTCAGAAAGGGTTCAACTGAAGAGAGTTTAATACAGGGACTGTTTAGGAAGGCTGGTAAAGCACCCAGAGACTAGCACCAACCACAGGAAGCCACTACCACTCACATGTCCAAAGGGAAAGAAGAGGAAGTGATGTTCTGGAGCCCAGTGAAAGCTGGTGCTATGAAAGGGGGACCCCTGTCCCCAAGCAGGAGAAACACAGCCATGGGCAGAACCGCAGTGAGGAATGGAGGGAGTGTGGAAGAAACACCCCCGCCTCTTTCTCCCCACTGCTTTCATCTTCAGCCAGGGCCTCCCATTGGCCACACCCAGCAGGAAGCTGGATAGCAAGGGAGCCAGGGTAAGGCAGTTAGTCCACAGGGGACATCTTCCCAGGTGGAGAAAGGCAGGAAGCAGGAGCAAGAACCATTTCTAGTTGATTCTTGAGTGCTGATTGCCGAGTTCTGATTAGCTGAATATTACTTGTGGTCCAATTGACTCAAGCATTGGCAGAGATGGCCGATCACAGGAGAGTATGTTGTAGAAGCTGTTCTTGGAATGAAGTTATGTTCTGTGAGTCTTATTTTTCACAGGTCAACAAGTTCTGCCCACGAAATTGCCACAAACCCAATGTCCTCCTTCTGGAAATGCTGAAAATATGTATTTCTTTCATTTACATGAACAATAGATGAAGGTTAAATATGGCATTGGGCCGAGTGCCTCACATTCTTGCCTCTTGTAGTCTGGCAGGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTA
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CCAAGATCCAGAGCTGCATATCAGAGGAATCATTGCCTCCTCAGGGGCAGTGACAGCCTTCTTGGGTCCAGATCCCCTGCCCATCTGTCCATTCTTCCAGTGGTAGCTCCAGAGCCAGCCAGTCCCAAGGAAAAAACCATATGCAAATTGCCTACATTGAGTTGTCTGTACCACCTGCTTTCTGTTCTCTGGCCTGGCAATGGCCTAGTCACGTTCTCTCTACCCAGACACCTTTGCAGTGATTAACACCTTATTATTTTATATTAGTCACTCATTATGATTTGTATTAGTTAGGGTCCTGGCAGGAAACAGATGGCACACTCAGAAAGGGTTCAACTGAAGAGAGTTTAATACAGGGACTGTTTAGGAAGGCTGGTAAAGCACCCAGAGACTAGCACCAACCACAGGAAGCCACTACCACTCACATGTCCAAAGGGAAAGAAGAGGAAGTGATGTTCTGGAGCCCAGTGAAAGCTGGTGCTATGAAAGGGGGACCCCTGTCCCCAAGCAGGAGAAACACAGCCATGGGCAGAACCGCAGTGAGGAATGGAGGGAGTGTGGAAGAAACACCCCCGCCTCTTTCTCCCCACTGCTTTCATCTTCAGCCAGGGCCTCCCATTGGCCACACCCAGCAGGAAGCTGGATAGCAAGGGAGCCAGGGTAAGGCAGTTAGTCCACAGGGGACATCTTCCCAGGTGGAGAAAGGCAGGAAGCAGGAGCAAGAACCATTTCTAGTTGATTCTTGAGTGCTGATTGCCGAGTTCTGATTAGCTGAATATTACTTGTGGTCCAATTGACTCAAGCATTGGCAGAGATGGCCGATCACAGGAGAGTATGTTGTAGAAGCTGTTCTTGGAATGAAGTTATGTTCTGTGAGTCTTATTTTTCACAGGTCAACAAGTTCTGCCCACGAAATTGCCACAAACCCAATGTCCTCCTTCTGGAAATGCTGAAAATATGTATTTCTTTCATTTACATGAACAATAGATGAAGGTTAAATATGGCATTGGGCCGAGTGCCTCACATTCTTGCCTCTTGTAGTCTGGCAGGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCCGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTA
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Task1_train_14027
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Here is a genetic alteration in CDH23 (cadherin related 23) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 12
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CCAAGATCCAGAGCTGCATATCAGAGGAATCATTGCCTCCTCAGGGGCAGTGACAGCCTTCTTGGGTCCAGATCCCCTGCCCATCTGTCCATTCTTCCAGTGGTAGCTCCAGAGCCAGCCAGTCCCAAGGAAAAAACCATATGCAAATTGCCTACATTGAGTTGTCTGTACCACCTGCTTTCTGTTCTCTGGCCTGGCAATGGCCTAGTCACGTTCTCTCTACCCAGACACCTTTGCAGTGATTAACACCTTATTATTTTATATTAGTCACTCATTATGATTTGTATTAGTTAGGGTCCTGGCAGGAAACAGATGGCACACTCAGAAAGGGTTCAACTGAAGAGAGTTTAATACAGGGACTGTTTAGGAAGGCTGGTAAAGCACCCAGAGACTAGCACCAACCACAGGAAGCCACTACCACTCACATGTCCAAAGGGAAAGAAGAGGAAGTGATGTTCTGGAGCCCAGTGAAAGCTGGTGCTATGAAAGGGGGACCCCTGTCCCCAAGCAGGAGAAACACAGCCATGGGCAGAACCGCAGTGAGGAATGGAGGGAGTGTGGAAGAAACACCCCCGCCTCTTTCTCCCCACTGCTTTCATCTTCAGCCAGGGCCTCCCATTGGCCACACCCAGCAGGAAGCTGGATAGCAAGGGAGCCAGGGTAAGGCAGTTAGTCCACAGGGGACATCTTCCCAGGTGGAGAAAGGCAGGAAGCAGGAGCAAGAACCATTTCTAGTTGATTCTTGAGTGCTGATTGCCGAGTTCTGATTAGCTGAATATTACTTGTGGTCCAATTGACTCAAGCATTGGCAGAGATGGCCGATCACAGGAGAGTATGTTGTAGAAGCTGTTCTTGGAATGAAGTTATGTTCTGTGAGTCTTATTTTTCACAGGTCAACAAGTTCTGCCCACGAAATTGCCACAAACCCAATGTCCTCCTTCTGGAAATGCTGAAAATATGTATTTCTTTCATTTACATGAACAATAGATGAAGGTTAAATATGGCATTGGGCCGAGTGCCTCACATTCTTGCCTCTTGTAGTCTGGCAGGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTA
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CCAAGATCCAGAGCTGCATATCAGAGGAATCATTGCCTCCTCAGGGGCAGTGACAGCCTTCTTGGGTCCAGATCCCCTGCCCATCTGTCCATTCTTCCAGTGGTAGCTCCAGAGCCAGCCAGTCCCAAGGAAAAAACCATATGCAAATTGCCTACATTGAGTTGTCTGTACCACCTGCTTTCTGTTCTCTGGCCTGGCAATGGCCTAGTCACGTTCTCTCTACCCAGACACCTTTGCAGTGATTAACACCTTATTATTTTATATTAGTCACTCATTATGATTTGTATTAGTTAGGGTCCTGGCAGGAAACAGATGGCACACTCAGAAAGGGTTCAACTGAAGAGAGTTTAATACAGGGACTGTTTAGGAAGGCTGGTAAAGCACCCAGAGACTAGCACCAACCACAGGAAGCCACTACCACTCACATGTCCAAAGGGAAAGAAGAGGAAGTGATGTTCTGGAGCCCAGTGAAAGCTGGTGCTATGAAAGGGGGACCCCTGTCCCCAAGCAGGAGAAACACAGCCATGGGCAGAACCGCAGTGAGGAATGGAGGGAGTGTGGAAGAAACACCCCCGCCTCTTTCTCCCCACTGCTTTCATCTTCAGCCAGGGCCTCCCATTGGCCACACCCAGCAGGAAGCTGGATAGCAAGGGAGCCAGGGTAAGGCAGTTAGTCCACAGGGGACATCTTCCCAGGTGGAGAAAGGCAGGAAGCAGGAGCAAGAACCATTTCTAGTTGATTCTTGAGTGCTGATTGCCGAGTTCTGATTAGCTGAATATTACTTGTGGTCCAATTGACTCAAGCATTGGCAGAGATGGCCGATCACAGGAGAGTATGTTGTAGAAGCTGTTCTTGGAATGAAGTTATGTTCTGTGAGTCTTATTTTTCACAGGTCAACAAGTTCTGCCCACGAAATTGCCACAAACCCAATGTCCTCCTTCTGGAAATGCTGAAAATATGTATTTCTTTCATTTACATGAACAATAGATGAAGGTTAAATATGGCATTGGGCCGAGTGCCTCACATTCTTGCCTCTTGTAGTCTGGCAGGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCCGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTA
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Task1_train_14028
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This variant affects gene CDH23 (cadherin related 23) located on Chromosome 10. Evaluate its biological effect and specify any disease association.
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Pathogenic; Pituitary adenoma 5, multiple types
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCAGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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Task1_train_14029
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This variant affects the gene CDH23 (cadherin related 23) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Usher syndrome type 1D
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCAGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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Task1_train_14030
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This sequence variant lies in CDH23 (cadherin related 23) on Chromosome 10. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 12
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCAGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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Task1_train_14031
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Consider this mutation in CDH23 (cadherin related 23) on Chromosome 10. Is this a benign change or a disease-causing variant?
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Pathogenic; Usher syndrome
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCAGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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Task1_train_14032
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The gene CDH23 (cadherin related 23) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Pituitary adenoma 5, multiple types
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCAGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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Task1_train_14033
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A mutation found in CDH23 (cadherin related 23) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 12
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCAGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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Task1_train_14034
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A variant has been detected on Chromosome 10 in CDH23 (cadherin related 23). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Childhood onset hearing loss
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCAGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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Task1_train_14035
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A mutation found in CDH23 (cadherin related 23) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Retinal dystrophy
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCAGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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Task1_train_14036
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The following genetic variant occurs in CDH23 (cadherin related 23) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Rare genetic deafness
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCAGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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Task1_train_14037
|
A genomic change on Chromosome 10 affects CDH23 (cadherin related 23). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Inborn genetic diseases
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCAGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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Task1_train_14038
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This variant impacts the gene CDH23 (cadherin related 23) on Chromosome 10. Is the change likely to result in a pathogenic outcome?
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Pathogenic; CDH23-related disorder
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCTGACCAAGGACGTGACCCACTCTTTTCCACAGGCCACCACGCACGTGTACGTGACCATTGTGGATGAGAATGATAACGCGCCCATGTTCCAGCAGCCCCACTATGAGGTGCTGCTGGATGAGGGCCCAGACACGCTCAACACCAGCCTCATCACCATCCAGGCACTGGACCTGGATGAGGGTCCCAACGGCACAGTCACCTATGCCATCGTCGCAGGCAACATCGTCAACACCTTCCGCATCGACAGACACATGGTCAGCAGCTGATGGCAGGATCAAGACAAGGGGCGAAACCTATCCAGGGATTGGCAAGGAGTTCAGTGACACTGGAGGGGGATGGAGCAAAGATGCAGTCTAGGGGAAACTGTGGGGGCACTCAGTGTGGGAGGATGAAAAGTTTGGTGGAGTGGAGCCTGGGCTAGGGGGTGGCAGTGGTTCCCCATCACAGCTCCAATGTCAGGGCCTACTTCCCAAATTGGTCAGAGGGTGCTGCAGACCTACCACCCCTAGATCCATCCTTGTCCCTTCCCTGTGTCCCCCAGGGTGTCATCACTGCTGCCAAAGAGCTGGACTACGAGATCAGCCACGGCCGCTACACCCTGATCGTCACTGCCACAGACCAGTGCCCCATCTTATCCCACCGCCTCACCTCTACCACCACGGTGGGTGCATGGGACACAGCCCCAACTTGGGCTTGGAGGTTGGCGAAGGATGGGACCCAGAAAGCTCCGATGCGGGAAGGGGTTAGGGGAAGATTGTCTGAGGGAAATGCCTAAATCCAAGACCCCTGTCCTAATCTCAGCAACTCACTCAAACTTGCTGTGTGACTTTAACGAGGTCACTGAACTTCCCTGTGTGGCTACATCTGTCAGACAAGTGACAATACCTGCCCTCCTCTCCTTCATGGGAAAACCATGAACTCTGGGTTTCAAGTCCTTGCTCTTCCACTTTCTAGCTGTGTGACCCTGAGCAAGTTGCTTAACCTCCCTGCTTCCATTTCCTCATCTGTGAAAGGAGGACAATACAAACTATGTTTTAAGGAGTGAGAGGAGTAAATGAAACCACGTAAGACAACCACAGTGCAGCAACAAATAGAAGTTTATGGGCAGTACTATTATTATTTTTTTGAGACAAGTTTTCACTCTATCATCCAGGCTGGAGTGTAGTGGCTTGATCACAGCTCACTGCAGACTCGACCTCCTGGACTCAAGAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATGTATTACTCTTTTATTTTTTGTAGAGGTGGGGTCTTGCTATATTGCCCAGGCTGGCTCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGTGTGAACCACTGTGTCTGGCCAATAGCATTTTTATTAATATGATGATTGTGCCCATAAAAGGCTTTGGCAATAATGATAACTCATCCACATGCATAGCTTAAAAGCCCCACCCATATCCGACTTCCCATATGATTCCTGCATGGGCCTCATGAGGCAGAATTATCAGGTCCATTTCACAGAGGAAGGAACTGAGGCCCAGCACAAAGCTGGCTGGGGTGAGGCCTTGGCTAAGCTTTTCCACCATCTCAGGTGCTTGTGAATGTGAATGACATCAACGACAATGTGCCTACCTTCCCCCAGGACTATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGGCCCATGACCGAGACTCAGGACCCAACGGGCAGGTGGAGTACAGCATCATGGATGGAGACCCTCTGGGTGAGTGGGGCTTGGGGCATGCCACCCACAGGGTCTCACCTGCACACCCGCTCAGGGGAGGATAAGAAGGGAGGTCTCAAGGCATTTGGCCTCACCATTGTGTGATTTTGTCCTCTCTGGGCCTCAGTTTCCCCATCTATGACAATGATGGAAATAATCTTCTCCCACCTCTTATTCCCAGAGATGTGGCGAGAACACCCTATAATCTGGGAACAAGGGCTGGTGGCCTTGGAGGGACACAGACTCCTTTAAGAACATGATTAAAAAATGCCCTGTTGCATACCCAGAGGAAGGGCCCCAGGGCAGACGAGGGAAGCACATCCTTACAGTGCGTGCAGAACACAGCCCCCGCCCTCAGGACCACAAACCCACACACCAAGGGAGCGCCTGGCTTGCTCTGCACATCTCATAGTCACCCATTCACAGCCCTCTCCTTGGATGAAGAGCAGAGTTTGCCTTGGCCTTGAGGGCAACTTCTCAAGTCCATTTTCACTCATTACTATAGAGTGGGAATCCCAGATCCAAAGGCGCCAGCTAGGGTCAGGCAAGGAGCCTTCGTGGGAGATGGTGTAGGAAAGAATCAGGAGCAGTGGGGACTGCGCAGCCACAACTCAGCTCCTGCCAGTAGTAGCTGTGTCCAGATCCCAGCCTGGGAGTACCTGGGCCCATTTTGAAAAGAAAAGCAGAAATCCAAATCTTTGTGAAACATCCTGATTTTTTAATTGGTCGTGCAGGAAATATTTCTTGAGTACCTCCAGTGTGCCGGCCATGTTCCAAGAGCTGGGGATACCAAACAGATGCAAATCCCTGCCCCGTAGAACGTACGTTCCAGTTGGAGGACACGGGCAATGAACCAACTGACTAAGTAGATGACTTAGTATACTGGGAGGTGCTAAGGGCTATGGAGAAAAATAAAACCAAGCCGGAGGATGGGGAATGCCAGGGTGAAGGCAGCAATTGTAGGTTGGCAAAAACCTGAAGGAGGGCAAAGGTGAGTCAAGTGACATCTGGGGAAGAGCATTCCAGGCAGAGGAAACAGCAAGTGGAAAGGCACTGAGGTTGGAGCATGCCTGGGATGTTCACAGAGAAGCAAAAAGGCCTGCAGCTGGGGGAAAGTTGAGCAAAGGGAAGCATAGGAAGAAATGAGACCAGAGAGGTAATGGGGCCAGATGTTGTCGGGCCTTGAGGGGCATCATGAGGGCGTGGCTTTTGCTCTGAGGTGGGAACCCTAAGAGGGCTTTAAGCAGAGGAGAGACATTATTTGACTTAGGTTTCAGCAGGACCACTCTGGTTCCTGTGATCAGAACAGACTGTAGGGGTGAAGGAAAAGGAGCAGGGAAGTCGGATGGGAACCTGCTGCAATCACTCAGGCTAGAATGAGGTAGCCGGGAGAGGGTGGTGGCATCACCACCAAAGGGAAAGAGGTGGCCACCTCTGGTGTAATTCAGAGGTGGAGCCAGTAGGATGTGCTAACTGATTGGCTGTGGGATGTGAGAGAAAGTCAAGGTTTTGGCGTGAGCAACCCAAAAGATGATGGCGTTGCCATTGACGGATGGAGGGCTGCAGCAGGAGGTTGTGGAGGGAAAGGAGGGTCGGTTCGAGATACCAGGTAGAGGTTGCGTATACAAGCCAAGAGTTCAGGAGAGAGGTCTGGGCTGGAGACGGGTATTTGGGAGTTGTCAGCATAGAGGTATTTAAATCCAGGAAACAAAGAGCGGTGCGAAGATTCAACAGTGAACCCAAGCCTCGCTTGCAATTAAGAGGCTGGGGGAAAAAACAACAACCTATATATGGAGGGCCCAAGTGACAGAATGAGAGCCCCTGCTGCCCAGAGCTTATGAGGGGTCACTCTGTTCGGACATGCTACCCTTTCGGATCCCAAAGTCTCCTCTCTGGCCAAGCACTAGGCCTTCCTC
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Task1_train_14039
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The following genetic variant occurs in CDH23 (cadherin related 23) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Usher syndrome
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GGGCTGGTGGGAAATCCCAGCTGCAGGTGGGACTGAGAGGGGCTGTTTTTGTACATCAGAGTGTTAGGAGCTGGGGACAGGGAATTGTGAGGTAGGATGTGAAGAGACAGGCAGAGAAAACTGTGGGGGCGCCTGGGCCCCTGTCCTTGCCATGCCCTGTGAGCTGTGTGCTTCCTGCTGTCTGTCCCAGAGCAAGTCAGTGCCCCATTCTGGGCCCTTCCCCCTAAGTATTCAAAGGGAAAGTGAAGGAGGTAACTAACCTTCTCTCCATTCCATTTCCTGGGGGAATGCGGAGAGGTGGCCTCTCTTCTGCAGGCTCTCCCAGTTCCCTAGCTCACATCCCCTCAACTTTCTTCCTGCCAGAGCCACAGCCCCCACCATTCTTGCCTCTCCAGCTGGGCTCACGCTTGCTCACTGGTTTCCTTCCCCCTGTCTCTTCTCTCCACCCTCCGTGTTCTCACCCCGCCCCGGTCAGCTCTGAGTGGTGCTGTCTGGAAAGAACACAAGTCCTGTGCGAGGCAATGGGTTAAGACCCAGAGTGCTGGGTTTGAATCCTGGTCTGTCATTCACTTGCTGCAGGAGTGCAGACAAGTGGTAACCCTCCCCTGGGCTCCCAGTTCATTCTCCAAAGGACACAAGGGACTGGACGGTCTCTGGGCTGCCTTCCAGGTCAGCATCTGAGAATCTGAGGTTCTTGCTCTGGACTGTCAGACATCGGGCCCTGCAGCCCAGCCAAGAAAAGGATTCTGGGGCCACAGGGCCAGCGGGGCTCTTCAGAAACATCAAGGAAAGGAAATCAGGGTCACCACAGGTGTAGGGAACCCACTCTGCTTTCCAACTATAGCTCAATATGGGGACTAAATAGAGGGCACTGGGGGCTTCCCTGCCCCTCATCCGTCCCCTTCTGCCTGCCCGGTGCCTGCGCATTCACCATTAGCAAAGCATTGCTTTGTGGTCAGCTCTGCCCTTCCCAATATCCTTTTTTACAAGCCATGGCATGTGGGATGGATCGTACATTGCGAAGCACCTGATGCCTTCATTGATCAAGAGTGCTTAGACAGTGGGTGCTAGTGTAGCAAGAAGCCCCCACTTTTTCAACATAGCCATCTTACCCAGGTCAGTCTCTGGCCTGCCTGTGGCCCAGGGAAGGAAGCTGCTTGGTCTGGCACATGAGGGCATGAGTGGCCCGTGTCCGCCTGCACCCGTGGTGGTGATCCGCTACCACCCACCTGCACATCCCAGCCCTTGCAGATCTCATGAGGATCTGAAGCTGGGGTCACTGGAGGACCCGGGCCCCAGCTGTCCCCCACCTGTGACGAGTGAGGCTTGCTAGAGGAAGCAGAAGGAGTCCTGGGGTCTCCACAGTTCCTGCCAATGCCCGACTAACTTGGGCCTCTCCTGGTGACACCCAGGGGAGTTTGTGATCTCTCCTGTGGAGGGGGTGCTAAGGGTCCGGAAGGACGTGGAGCTGGACCGGGAGACCATCGCCTTCTACAACCTGACCATCTGTGCCCGTGACCGGGGGATGCCCCCACTCAGCTCCACAGTGAGTCTGGGGGCCCCACCCGCTGGCTTCACCTCGCTGCCCCTGTACTTGCCACAGAGATTCTTGTAAACATTGTTACCCTTGTGCCAAGAGAGGCCACAGGCTGCCCTGGAGCCAGGCCAGGCCTGCCCCTGGGGCCCTTAATAGACCTCTCGCCACATCCAGCAACTCTTTGGGGAGGCTGCCTTTCAGCGCCCCTCTGCACCCAACCCCTGCCCCATCACTCCCTTCTCCATCACTGCCCCTCCTCTGCCTCTGCCTTTCCTGCTTCCCTCATCATCCTCTTTTCATCTTCTTGCCTTTTTAATGTTCTTTTTCTTCTTTCTTCCTCTCCCCTTTTCTCTTTCTTCTCCATGACCAACTGCACCCTCCCTCCCTCCATGCCGCCCTTGGCGAACCTCCTCCTCGGTTGCCATGCACAACATCTGTCGCTCTTCCTCCCCTCCCTCCTCCTTCTCTGACTGGCCCAGATGCTGGTGGGGATCCGGGTGCTGGACATCAACGACAACGACCCTGTGCTGCTGAACCTGCCCATGAACATCACCATCAGCGAGAACAGCCCTGTCTCCAGCTTTGTCGCCCATGTCCTGGCCAGTGACGCTGACAGTGGCTGCAATGCACGCCTCACCTTCAACATCACTGCGGGCAACCGCGAGCGGGCCTTCTTCATCAATGCCACGGTAGGGCCTAGACTGACCCCAGGGAGCTTCCCAGGGTTTCCAGTGAAAAAGAGGACCCTGCCCTAGAGGCTTTTCTGCTGCCACCATCTGGGCTCCACCGGGCTCCCGTTCCTGCACTGGGATGAGGACACCTCTGTGGGAAGCATGGAATCTTGGATTCACCAGTGAACCATCTCTGGAGTCCACCTAGAGCCAGCCCTGAAGCTTGTCATGTGCAGAGATGGGGCCAGAGCCTGTGGGACCACTTGGTTTAATCAAGACGCACCAAAGTTCTCACTTAGCCTCTTGAGGTGTCTGTAGATGGCCAACAACACCATGGGGTCCTCCGAGGGCCATCTCTCAGAAGCAGCAAGGCCTGGGCATGAGTGGGTCACTCTCGCCCCGGCGAGACCCTGCCGACCCACATTTTTGGCCTTCTAGATCATCTCTTAGGCAATTTAGGGAGGCCAAGCAGAGCAGTTGGCATCTGTGGGCCAAAGTAGAAAGCAGGGAAAAGGTCTCCATGCAGCTCACCACCCTCCACATCCCAGACAGGGATCGTCACTGTGAACCGGCCCCTGGACCGCGAGCGGATCCCAGAGTACAAGCTGACCATTTCTGTGAAGGACAACCCGGAGAATCCACGCATAGCCAGGAGGGTGAGACTGGAGGGCACTGGTGGGAGTGGGCTGGGAGCTAGAGGCGCATGGAGAGAGAACACATCACCCCTCCTGCAGGCAGCATAGCCAGGCTTAGATGCACAGGCTTTGGAGTGAGCACGTGCTGGCTTCAAATCCCAGTTCTCTCCTTCAGTAGGTGCGTGGCTTTGGCTAGTTAACTCCTCTTGGCCTCCATTTCTCTTCTGCAAAATGAAGATCTCACCTACCCCAAAGTTGTAGAAAGGATGAAGGAGCCAATATATGTGAAAGCCTCAGCACAGTGCCTGGAGTGTGACAAACACTCAGTGAACATCAACTATCATTGTTTCCTCCCCAAACCACTGATACCTGGACACACACTGCATTTGTGCATGGGGCACATGGGCCTGCATTCACCCACAAGCATGCTCTGAGGTCCTGGAAGGGCTGCGTTTTCCAGGTGGCTCTCCCCTCAGAAGCCAAAGAAATGAGCTCTTGACTAAAGGGAGGTGGATGTTGCAAAGCAAACAGTCCCTTTGGGTTGGGGGTCAGCTCTGTCCTTCCAGCCCATGAATCTGTGGTAGATTCCTAGCCAGAAGCCTTCAGGCCCAGTTCATCTCAGCTCTGCCCCTGACTAGCTGTGTGGCTCAGCCAAGGCACCACTCTTTCTGGGCCTCAGTTTCCCTATCGGTCTAGCCAGAGGAGACGTCAGGCTGGAGAAACTCATAAGCTACATGCCCCTCCCATGTGGTGCTCCTCTGCTTCCTACTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAAGCTGGTGTGCAGTGGTGCAATCGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTTGTGCCTCAGTCTCCCGAGTAGCTAGGATTACATGCACACGCCACCTTGCCCGGCTAATTTTTGTATTTTTAGCAGAGATGGGATTTCACCATGTTGGCGAGGCTTGTCTCAAACTCCTGACCTCAAGCAATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCTTCTACTCCCTCATTTTTGCCCCCACTTTTTCTCTTTTCTGCTCTCATTTTTCCTCTCCCTTGCCTGGCTTCAGGAGGGCCCCGGGTAAAAGCAGCATTGAGTGGCAGGACTCGGTGGGCTTAGGGGCTAAGCCCCACTCTGCTGCTAACTCACCACTTGGCTCTGAATGGGCA
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GGGCTGGTGGGAAATCCCAGCTGCAGGTGGGACTGAGAGGGGCTGTTTTTGTACATCAGAGTGTTAGGAGCTGGGGACAGGGAATTGTGAGGTAGGATGTGAAGAGACAGGCAGAGAAAACTGTGGGGGCGCCTGGGCCCCTGTCCTTGCCATGCCCTGTGAGCTGTGTGCTTCCTGCTGTCTGTCCCAGAGCAAGTCAGTGCCCCATTCTGGGCCCTTCCCCCTAAGTATTCAAAGGGAAAGTGAAGGAGGTAACTAACCTTCTCTCCATTCCATTTCCTGGGGGAATGCGGAGAGGTGGCCTCTCTTCTGCAGGCTCTCCCAGTTCCCTAGCTCACATCCCCTCAACTTTCTTCCTGCCAGAGCCACAGCCCCCACCATTCTTGCCTCTCCAGCTGGGCTCACGCTTGCTCACTGGTTTCCTTCCCCCTGTCTCTTCTCTCCACCCTCCGTGTTCTCACCCCGCCCCGGTCAGCTCTGAGTGGTGCTGTCTGGAAAGAACACAAGTCCTGTGCGAGGCAATGGGTTAAGACCCAGAGTGCTGGGTTTGAATCCTGGTCTGTCATTCACTTGCTGCAGGAGTGCAGACAAGTGGTAACCCTCCCCTGGGCTCCCAGTTCATTCTCCAAAGGACACAAGGGACTGGACGGTCTCTGGGCTGCCTTCCAGGTCAGCATCTGAGAATCTGAGGTTCTTGCTCTGGACTGTCAGACATCGGGCCCTGCAGCCCAGCCAAGAAAAGGATTCTGGGGCCACAGGGCCAGCGGGGCTCTTCAGAAACATCAAGGAAAGGAAATCAGGGTCACCACAGGTGTAGGGAACCCACTCTGCTTTCCAACTATAGCTCAATATGGGGACTAAATAGAGGGCACTGGGGGCTTCCCTGCCCCTCATCCGTCCCCTTCTGCCTGCCCGGTGCCTGCGCATTCACCATTAGCAAAGCATTGCTTTGTGGTCAGCTCTGCCCTTCCCAATATCCTTTTTTACAAGCCATGGCATGTGGGATGGATCGTACATTGCGAAGCACCTGATGCCTTCATTGATCAAGAGTGCTTAGACAGTGGGTGCTAGTGTAGCAAGAAGCCCCCACTTTTTCAACATAGCCATCTTACCCAGGTCAGTCTCTGGCCTGCCTGTGGCCCAGGGAAGGAAGCTGCTTGGTCTGGCACATGAGGGCATGAGTGGCCCGTGTCCGCCTGCACCCGTGGTGGTGATCCGCTACCACCCACCTGCACATCCCAGCCCTTGCAGATCTCATGAGGATCTGAAGCTGGGGTCACTGGAGGACCCGGGCCCCAGCTGTCCCCCACCTGTGACGAGTGAGGCTTGCTAGAGGAAGCAGAAGGAGTCCTGGGGTCTCCACAGTTCCTGCCAATGCCCGACTAACTTGGGCCTCTCCTGGTGACACCCAGGGGAGTTTGTGATCTCTCCTGTGGAGGGGGTGCTAAGGGTCCGGAAGGACGTGGAGCTGGACCGGGAGACCATCGCCTTCTACAACCTGACCATCTGTGCCCGTGACCGGGGGATGCCCCCACTCAGCTCCACAGTGAGTCTGGGGGCCCCACCCGCTGGCTTCACCTCGCTGCCCCTGTACTTGCCACAGAGATTCTTGTAAACATTGTTACCCTTGTGCCAAGAGAGGCCACAGGCTGCCCTGGAGCCAGGCCAGGCCTGCCCCTGGGGCCCTTAATAGACCTCTCGCCACATCCAGCAACTCTTTGGGGAGGCTGCCTTTCAGCGCCCCTCTGCACCCAACCCCTGCCCCATCACTCCCTTCTCCATCACTGCCCCTCCTCTGCCTCTGCCTTTCCTGCTTCCCTCATCATCCTCTTTTCATCTTCTTGCCTTTTTAATGTTCTTTTTCTTCTTTCTTCCTCTCCCCTTTTCTCTTTCTTCTCCATGACCAACTGCACCCTCCCTCCCTCCATGCCGCCCTTGGCGAACCTCCTCCTCGGTTGCCATGCACAACATCTGTCGCTCTTCCTCCCCTCCCTCCTCCTTCTCTGACTGGCCCAGATGCTGGTGGGGATCCGGGTGCTGGACATCAAAGACAACGACCCTGTGCTGCTGAACCTGCCCATGAACATCACCATCAGCGAGAACAGCCCTGTCTCCAGCTTTGTCGCCCATGTCCTGGCCAGTGACGCTGACAGTGGCTGCAATGCACGCCTCACCTTCAACATCACTGCGGGCAACCGCGAGCGGGCCTTCTTCATCAATGCCACGGTAGGGCCTAGACTGACCCCAGGGAGCTTCCCAGGGTTTCCAGTGAAAAAGAGGACCCTGCCCTAGAGGCTTTTCTGCTGCCACCATCTGGGCTCCACCGGGCTCCCGTTCCTGCACTGGGATGAGGACACCTCTGTGGGAAGCATGGAATCTTGGATTCACCAGTGAACCATCTCTGGAGTCCACCTAGAGCCAGCCCTGAAGCTTGTCATGTGCAGAGATGGGGCCAGAGCCTGTGGGACCACTTGGTTTAATCAAGACGCACCAAAGTTCTCACTTAGCCTCTTGAGGTGTCTGTAGATGGCCAACAACACCATGGGGTCCTCCGAGGGCCATCTCTCAGAAGCAGCAAGGCCTGGGCATGAGTGGGTCACTCTCGCCCCGGCGAGACCCTGCCGACCCACATTTTTGGCCTTCTAGATCATCTCTTAGGCAATTTAGGGAGGCCAAGCAGAGCAGTTGGCATCTGTGGGCCAAAGTAGAAAGCAGGGAAAAGGTCTCCATGCAGCTCACCACCCTCCACATCCCAGACAGGGATCGTCACTGTGAACCGGCCCCTGGACCGCGAGCGGATCCCAGAGTACAAGCTGACCATTTCTGTGAAGGACAACCCGGAGAATCCACGCATAGCCAGGAGGGTGAGACTGGAGGGCACTGGTGGGAGTGGGCTGGGAGCTAGAGGCGCATGGAGAGAGAACACATCACCCCTCCTGCAGGCAGCATAGCCAGGCTTAGATGCACAGGCTTTGGAGTGAGCACGTGCTGGCTTCAAATCCCAGTTCTCTCCTTCAGTAGGTGCGTGGCTTTGGCTAGTTAACTCCTCTTGGCCTCCATTTCTCTTCTGCAAAATGAAGATCTCACCTACCCCAAAGTTGTAGAAAGGATGAAGGAGCCAATATATGTGAAAGCCTCAGCACAGTGCCTGGAGTGTGACAAACACTCAGTGAACATCAACTATCATTGTTTCCTCCCCAAACCACTGATACCTGGACACACACTGCATTTGTGCATGGGGCACATGGGCCTGCATTCACCCACAAGCATGCTCTGAGGTCCTGGAAGGGCTGCGTTTTCCAGGTGGCTCTCCCCTCAGAAGCCAAAGAAATGAGCTCTTGACTAAAGGGAGGTGGATGTTGCAAAGCAAACAGTCCCTTTGGGTTGGGGGTCAGCTCTGTCCTTCCAGCCCATGAATCTGTGGTAGATTCCTAGCCAGAAGCCTTCAGGCCCAGTTCATCTCAGCTCTGCCCCTGACTAGCTGTGTGGCTCAGCCAAGGCACCACTCTTTCTGGGCCTCAGTTTCCCTATCGGTCTAGCCAGAGGAGACGTCAGGCTGGAGAAACTCATAAGCTACATGCCCCTCCCATGTGGTGCTCCTCTGCTTCCTACTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAAGCTGGTGTGCAGTGGTGCAATCGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTTGTGCCTCAGTCTCCCGAGTAGCTAGGATTACATGCACACGCCACCTTGCCCGGCTAATTTTTGTATTTTTAGCAGAGATGGGATTTCACCATGTTGGCGAGGCTTGTCTCAAACTCCTGACCTCAAGCAATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCTTCTACTCCCTCATTTTTGCCCCCACTTTTTCTCTTTTCTGCTCTCATTTTTCCTCTCCCTTGCCTGGCTTCAGGAGGGCCCCGGGTAAAAGCAGCATTGAGTGGCAGGACTCGGTGGGCTTAGGGGCTAAGCCCCACTCTGCTGCTAACTCACCACTTGGCTCTGAATGGGCA
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Task1_train_14040
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Given this variant in gene CDH23 (cadherin related 23) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; not provided
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GCGCCTGGGCCCCTGTCCTTGCCATGCCCTGTGAGCTGTGTGCTTCCTGCTGTCTGTCCCAGAGCAAGTCAGTGCCCCATTCTGGGCCCTTCCCCCTAAGTATTCAAAGGGAAAGTGAAGGAGGTAACTAACCTTCTCTCCATTCCATTTCCTGGGGGAATGCGGAGAGGTGGCCTCTCTTCTGCAGGCTCTCCCAGTTCCCTAGCTCACATCCCCTCAACTTTCTTCCTGCCAGAGCCACAGCCCCCACCATTCTTGCCTCTCCAGCTGGGCTCACGCTTGCTCACTGGTTTCCTTCCCCCTGTCTCTTCTCTCCACCCTCCGTGTTCTCACCCCGCCCCGGTCAGCTCTGAGTGGTGCTGTCTGGAAAGAACACAAGTCCTGTGCGAGGCAATGGGTTAAGACCCAGAGTGCTGGGTTTGAATCCTGGTCTGTCATTCACTTGCTGCAGGAGTGCAGACAAGTGGTAACCCTCCCCTGGGCTCCCAGTTCATTCTCCAAAGGACACAAGGGACTGGACGGTCTCTGGGCTGCCTTCCAGGTCAGCATCTGAGAATCTGAGGTTCTTGCTCTGGACTGTCAGACATCGGGCCCTGCAGCCCAGCCAAGAAAAGGATTCTGGGGCCACAGGGCCAGCGGGGCTCTTCAGAAACATCAAGGAAAGGAAATCAGGGTCACCACAGGTGTAGGGAACCCACTCTGCTTTCCAACTATAGCTCAATATGGGGACTAAATAGAGGGCACTGGGGGCTTCCCTGCCCCTCATCCGTCCCCTTCTGCCTGCCCGGTGCCTGCGCATTCACCATTAGCAAAGCATTGCTTTGTGGTCAGCTCTGCCCTTCCCAATATCCTTTTTTACAAGCCATGGCATGTGGGATGGATCGTACATTGCGAAGCACCTGATGCCTTCATTGATCAAGAGTGCTTAGACAGTGGGTGCTAGTGTAGCAAGAAGCCCCCACTTTTTCAACATAGCCATCTTACCCAGGTCAGTCTCTGGCCTGCCTGTGGCCCAGGGAAGGAAGCTGCTTGGTCTGGCACATGAGGGCATGAGTGGCCCGTGTCCGCCTGCACCCGTGGTGGTGATCCGCTACCACCCACCTGCACATCCCAGCCCTTGCAGATCTCATGAGGATCTGAAGCTGGGGTCACTGGAGGACCCGGGCCCCAGCTGTCCCCCACCTGTGACGAGTGAGGCTTGCTAGAGGAAGCAGAAGGAGTCCTGGGGTCTCCACAGTTCCTGCCAATGCCCGACTAACTTGGGCCTCTCCTGGTGACACCCAGGGGAGTTTGTGATCTCTCCTGTGGAGGGGGTGCTAAGGGTCCGGAAGGACGTGGAGCTGGACCGGGAGACCATCGCCTTCTACAACCTGACCATCTGTGCCCGTGACCGGGGGATGCCCCCACTCAGCTCCACAGTGAGTCTGGGGGCCCCACCCGCTGGCTTCACCTCGCTGCCCCTGTACTTGCCACAGAGATTCTTGTAAACATTGTTACCCTTGTGCCAAGAGAGGCCACAGGCTGCCCTGGAGCCAGGCCAGGCCTGCCCCTGGGGCCCTTAATAGACCTCTCGCCACATCCAGCAACTCTTTGGGGAGGCTGCCTTTCAGCGCCCCTCTGCACCCAACCCCTGCCCCATCACTCCCTTCTCCATCACTGCCCCTCCTCTGCCTCTGCCTTTCCTGCTTCCCTCATCATCCTCTTTTCATCTTCTTGCCTTTTTAATGTTCTTTTTCTTCTTTCTTCCTCTCCCCTTTTCTCTTTCTTCTCCATGACCAACTGCACCCTCCCTCCCTCCATGCCGCCCTTGGCGAACCTCCTCCTCGGTTGCCATGCACAACATCTGTCGCTCTTCCTCCCCTCCCTCCTCCTTCTCTGACTGGCCCAGATGCTGGTGGGGATCCGGGTGCTGGACATCAACGACAACGACCCTGTGCTGCTGAACCTGCCCATGAACATCACCATCAGCGAGAACAGCCCTGTCTCCAGCTTTGTCGCCCATGTCCTGGCCAGTGACGCTGACAGTGGCTGCAATGCACGCCTCACCTTCAACATCACTGCGGGCAACCGCGAGCGGGCCTTCTTCATCAATGCCACGGTAGGGCCTAGACTGACCCCAGGGAGCTTCCCAGGGTTTCCAGTGAAAAAGAGGACCCTGCCCTAGAGGCTTTTCTGCTGCCACCATCTGGGCTCCACCGGGCTCCCGTTCCTGCACTGGGATGAGGACACCTCTGTGGGAAGCATGGAATCTTGGATTCACCAGTGAACCATCTCTGGAGTCCACCTAGAGCCAGCCCTGAAGCTTGTCATGTGCAGAGATGGGGCCAGAGCCTGTGGGACCACTTGGTTTAATCAAGACGCACCAAAGTTCTCACTTAGCCTCTTGAGGTGTCTGTAGATGGCCAACAACACCATGGGGTCCTCCGAGGGCCATCTCTCAGAAGCAGCAAGGCCTGGGCATGAGTGGGTCACTCTCGCCCCGGCGAGACCCTGCCGACCCACATTTTTGGCCTTCTAGATCATCTCTTAGGCAATTTAGGGAGGCCAAGCAGAGCAGTTGGCATCTGTGGGCCAAAGTAGAAAGCAGGGAAAAGGTCTCCATGCAGCTCACCACCCTCCACATCCCAGACAGGGATCGTCACTGTGAACCGGCCCCTGGACCGCGAGCGGATCCCAGAGTACAAGCTGACCATTTCTGTGAAGGACAACCCGGAGAATCCACGCATAGCCAGGAGGGTGAGACTGGAGGGCACTGGTGGGAGTGGGCTGGGAGCTAGAGGCGCATGGAGAGAGAACACATCACCCCTCCTGCAGGCAGCATAGCCAGGCTTAGATGCACAGGCTTTGGAGTGAGCACGTGCTGGCTTCAAATCCCAGTTCTCTCCTTCAGTAGGTGCGTGGCTTTGGCTAGTTAACTCCTCTTGGCCTCCATTTCTCTTCTGCAAAATGAAGATCTCACCTACCCCAAAGTTGTAGAAAGGATGAAGGAGCCAATATATGTGAAAGCCTCAGCACAGTGCCTGGAGTGTGACAAACACTCAGTGAACATCAACTATCATTGTTTCCTCCCCAAACCACTGATACCTGGACACACACTGCATTTGTGCATGGGGCACATGGGCCTGCATTCACCCACAAGCATGCTCTGAGGTCCTGGAAGGGCTGCGTTTTCCAGGTGGCTCTCCCCTCAGAAGCCAAAGAAATGAGCTCTTGACTAAAGGGAGGTGGATGTTGCAAAGCAAACAGTCCCTTTGGGTTGGGGGTCAGCTCTGTCCTTCCAGCCCATGAATCTGTGGTAGATTCCTAGCCAGAAGCCTTCAGGCCCAGTTCATCTCAGCTCTGCCCCTGACTAGCTGTGTGGCTCAGCCAAGGCACCACTCTTTCTGGGCCTCAGTTTCCCTATCGGTCTAGCCAGAGGAGACGTCAGGCTGGAGAAACTCATAAGCTACATGCCCCTCCCATGTGGTGCTCCTCTGCTTCCTACTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAAGCTGGTGTGCAGTGGTGCAATCGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTTGTGCCTCAGTCTCCCGAGTAGCTAGGATTACATGCACACGCCACCTTGCCCGGCTAATTTTTGTATTTTTAGCAGAGATGGGATTTCACCATGTTGGCGAGGCTTGTCTCAAACTCCTGACCTCAAGCAATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCTTCTACTCCCTCATTTTTGCCCCCACTTTTTCTCTTTTCTGCTCTCATTTTTCCTCTCCCTTGCCTGGCTTCAGGAGGGCCCCGGGTAAAAGCAGCATTGAGTGGCAGGACTCGGTGGGCTTAGGGGCTAAGCCCCACTCTGCTGCTAACTCACCACTTGGCTCTGAATGGGCACTCCCCATCTCTGCACCTTGGTTCCCTTGTCTCTGAGGTGGTGACAGTGCACAGGGGTACTGGAGGTTCTGAGGTTTGCGAGTGTGAAGTGAGGCACTGGCAGAGTTTGAATGAACTCCAGCCAGGGC
|
GCGCCTGGGCCCCTGTCCTTGCCATGCCCTGTGAGCTGTGTGCTTCCTGCTGTCTGTCCCAGAGCAAGTCAGTGCCCCATTCTGGGCCCTTCCCCCTAAGTATTCAAAGGGAAAGTGAAGGAGGTAACTAACCTTCTCTCCATTCCATTTCCTGGGGGAATGCGGAGAGGTGGCCTCTCTTCTGCAGGCTCTCCCAGTTCCCTAGCTCACATCCCCTCAACTTTCTTCCTGCCAGAGCCACAGCCCCCACCATTCTTGCCTCTCCAGCTGGGCTCACGCTTGCTCACTGGTTTCCTTCCCCCTGTCTCTTCTCTCCACCCTCCGTGTTCTCACCCCGCCCCGGTCAGCTCTGAGTGGTGCTGTCTGGAAAGAACACAAGTCCTGTGCGAGGCAATGGGTTAAGACCCAGAGTGCTGGGTTTGAATCCTGGTCTGTCATTCACTTGCTGCAGGAGTGCAGACAAGTGGTAACCCTCCCCTGGGCTCCCAGTTCATTCTCCAAAGGACACAAGGGACTGGACGGTCTCTGGGCTGCCTTCCAGGTCAGCATCTGAGAATCTGAGGTTCTTGCTCTGGACTGTCAGACATCGGGCCCTGCAGCCCAGCCAAGAAAAGGATTCTGGGGCCACAGGGCCAGCGGGGCTCTTCAGAAACATCAAGGAAAGGAAATCAGGGTCACCACAGGTGTAGGGAACCCACTCTGCTTTCCAACTATAGCTCAATATGGGGACTAAATAGAGGGCACTGGGGGCTTCCCTGCCCCTCATCCGTCCCCTTCTGCCTGCCCGGTGCCTGCGCATTCACCATTAGCAAAGCATTGCTTTGTGGTCAGCTCTGCCCTTCCCAATATCCTTTTTTACAAGCCATGGCATGTGGGATGGATCGTACATTGCGAAGCACCTGATGCCTTCATTGATCAAGAGTGCTTAGACAGTGGGTGCTAGTGTAGCAAGAAGCCCCCACTTTTTCAACATAGCCATCTTACCCAGGTCAGTCTCTGGCCTGCCTGTGGCCCAGGGAAGGAAGCTGCTTGGTCTGGCACATGAGGGCATGAGTGGCCCGTGTCCGCCTGCACCCGTGGTGGTGATCCGCTACCACCCACCTGCACATCCCAGCCCTTGCAGATCTCATGAGGATCTGAAGCTGGGGTCACTGGAGGACCCGGGCCCCAGCTGTCCCCCACCTGTGACGAGTGAGGCTTGCTAGAGGAAGCAGAAGGAGTCCTGGGGTCTCCACAGTTCCTGCCAATGCCCGACTAACTTGGGCCTCTCCTGGTGACACCCAGGGGAGTTTGTGATCTCTCCTGTGGAGGGGGTGCTAAGGGTCCGGAAGGACGTGGAGCTGGACCGGGAGACCATCGCCTTCTACAACCTGACCATCTGTGCCCGTGACCGGGGGATGCCCCCACTCAGCTCCACAGTGAGTCTGGGGGCCCCACCCGCTGGCTTCACCTCGCTGCCCCTGTACTTGCCACAGAGATTCTTGTAAACATTGTTACCCTTGTGCCAAGAGAGGCCACAGGCTGCCCTGGAGCCAGGCCAGGCCTGCCCCTGGGGCCCTTAATAGACCTCTCGCCACATCCAGCAACTCTTTGGGGAGGCTGCCTTTCAGCGCCCCTCTGCACCCAACCCCTGCCCCATCACTCCCTTCTCCATCACTGCCCCTCCTCTGCCTCTGCCTTTCCTGCTTCCCTCATCATCCTCTTTTCATCTTCTTGCCTTTTTAATGTTCTTTTTCTTCTTTCTTCCTCTCCCCTTTTCTCTTTCTTCTCCATGACCAACTGCACCCTCCCTCCCTCCATGCCGCCCTTGGCGAACCTCCTCCTCGGTTGCCATGCACAACATCTGTCGCTCTTCCTCCCCTCCCTCCTCCTTCTCTGACTGGCCCAGATGCTGGTGGGGATCCGGGTGCTGGACATCAACGACAACGACCCTGTGCTGCTGAACCTGCCCATGAACATCACCATCAGCGAGAACAGCCCTGTCTCCAGCTTTGTCGCCCATGTCCTGGCCAGTGACGCTGACAGTGGCTGCAATGCACGCCTCACCTCCAACATCACTGCGGGCAACCGCGAGCGGGCCTTCTTCATCAATGCCACGGTAGGGCCTAGACTGACCCCAGGGAGCTTCCCAGGGTTTCCAGTGAAAAAGAGGACCCTGCCCTAGAGGCTTTTCTGCTGCCACCATCTGGGCTCCACCGGGCTCCCGTTCCTGCACTGGGATGAGGACACCTCTGTGGGAAGCATGGAATCTTGGATTCACCAGTGAACCATCTCTGGAGTCCACCTAGAGCCAGCCCTGAAGCTTGTCATGTGCAGAGATGGGGCCAGAGCCTGTGGGACCACTTGGTTTAATCAAGACGCACCAAAGTTCTCACTTAGCCTCTTGAGGTGTCTGTAGATGGCCAACAACACCATGGGGTCCTCCGAGGGCCATCTCTCAGAAGCAGCAAGGCCTGGGCATGAGTGGGTCACTCTCGCCCCGGCGAGACCCTGCCGACCCACATTTTTGGCCTTCTAGATCATCTCTTAGGCAATTTAGGGAGGCCAAGCAGAGCAGTTGGCATCTGTGGGCCAAAGTAGAAAGCAGGGAAAAGGTCTCCATGCAGCTCACCACCCTCCACATCCCAGACAGGGATCGTCACTGTGAACCGGCCCCTGGACCGCGAGCGGATCCCAGAGTACAAGCTGACCATTTCTGTGAAGGACAACCCGGAGAATCCACGCATAGCCAGGAGGGTGAGACTGGAGGGCACTGGTGGGAGTGGGCTGGGAGCTAGAGGCGCATGGAGAGAGAACACATCACCCCTCCTGCAGGCAGCATAGCCAGGCTTAGATGCACAGGCTTTGGAGTGAGCACGTGCTGGCTTCAAATCCCAGTTCTCTCCTTCAGTAGGTGCGTGGCTTTGGCTAGTTAACTCCTCTTGGCCTCCATTTCTCTTCTGCAAAATGAAGATCTCACCTACCCCAAAGTTGTAGAAAGGATGAAGGAGCCAATATATGTGAAAGCCTCAGCACAGTGCCTGGAGTGTGACAAACACTCAGTGAACATCAACTATCATTGTTTCCTCCCCAAACCACTGATACCTGGACACACACTGCATTTGTGCATGGGGCACATGGGCCTGCATTCACCCACAAGCATGCTCTGAGGTCCTGGAAGGGCTGCGTTTTCCAGGTGGCTCTCCCCTCAGAAGCCAAAGAAATGAGCTCTTGACTAAAGGGAGGTGGATGTTGCAAAGCAAACAGTCCCTTTGGGTTGGGGGTCAGCTCTGTCCTTCCAGCCCATGAATCTGTGGTAGATTCCTAGCCAGAAGCCTTCAGGCCCAGTTCATCTCAGCTCTGCCCCTGACTAGCTGTGTGGCTCAGCCAAGGCACCACTCTTTCTGGGCCTCAGTTTCCCTATCGGTCTAGCCAGAGGAGACGTCAGGCTGGAGAAACTCATAAGCTACATGCCCCTCCCATGTGGTGCTCCTCTGCTTCCTACTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAAGCTGGTGTGCAGTGGTGCAATCGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTTGTGCCTCAGTCTCCCGAGTAGCTAGGATTACATGCACACGCCACCTTGCCCGGCTAATTTTTGTATTTTTAGCAGAGATGGGATTTCACCATGTTGGCGAGGCTTGTCTCAAACTCCTGACCTCAAGCAATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCTTCTACTCCCTCATTTTTGCCCCCACTTTTTCTCTTTTCTGCTCTCATTTTTCCTCTCCCTTGCCTGGCTTCAGGAGGGCCCCGGGTAAAAGCAGCATTGAGTGGCAGGACTCGGTGGGCTTAGGGGCTAAGCCCCACTCTGCTGCTAACTCACCACTTGGCTCTGAATGGGCACTCCCCATCTCTGCACCTTGGTTCCCTTGTCTCTGAGGTGGTGACAGTGCACAGGGGTACTGGAGGTTCTGAGGTTTGCGAGTGTGAAGTGAGGCACTGGCAGAGTTTGAATGAACTCCAGCCAGGGC
|
Task1_train_14041
|
A sequence alteration has been identified in CDH23 (cadherin related 23) on Chromosome 10. Is it disease-inducing or harmless?
|
Pathogenic; Nonsyndromic genetic hearing loss
|
TATGCCTAACGGCATAGCTGAACCTAGACCCCAGTGGGTGCGGGAGGGGAAGGATGGGTGCAGCTCCGGGAGATGGTGGGCTGGGGCTCCCGGGCCTCCTATGAGCACAAAGAAGCCACAGGTCTGGTTGGAAGAGACAGTCGTGGTCATTGTTCCCCAGGGTGGTCTGAGAGCTGCCCCACCATCCCTCAAGAAGGGCATGTAAGGTGTGAGGACTACCCCGGAGGGGAGTGGGTCCACCCCTCACTGCTCCCTCCACCCCAGGAGTGCAGGGCATCCCAGGGCCTTCTGGAAGCCCTGGGGAGCATCTATAACTAGAAGTGGGAGGTCAGGGGGTCCTGGGTAGGCCAGTGTAGCCCTCTCCCCACACACATGCACTGACCAGGCTCACCTCCCTCCAGAGGGACAGAATCTCCTCTGTGATGTCCCCTGAGGTGGCACCTGCACTCCTCCAGTCTCCCCAGCCCCTGTTCCTCATCTCTGGCTGGGCATCCCCCCTAGGTGAATTTCATTCTTAAACCTGTCTGTGTGTATGCTCACACATGTGCCCGTGTGTGTCCATACCAAGGCATGTGCGTGGGGTTACACATGTGCACAGACACATATAGGTACATGGGTGCCCACTGATGCGCTCGTGTGCAGACATGCCCACCTGCAGAGGCACACGAGTGCACAACCAGGGAATCCCAGGCCTGTGCGTGCTCCTGGACAAGTGCCTGTGGCCATGTGAACACAGAACTTGATGCACACATGAGTGGGTTTTTCTAGTCATGTATGGCCAGGCCCCCAAAGGCAGAGCATTGTGTGAACACATGTGTTGACAGGCGAGACCCACACATGGGGAGGGGATGTCAGGGAGCCCCAGACCCTCCCGAGGAGCGGCCAGCCTCAAAGGCTGCTGGGAAGGCAGATGTGGCTCTGGGCAGCCGGGGCCTTGCTCACCACTCTCATGTTTTCTCCCCAGCAGGGCTTTGAGGCCGCTCCCCAGGCATCTGCGTTCAGTCTGCCAAGGCTGCCGCAGGCCCGCCCCCAGGGCCTCCCCACCCTGTCCACCTCACCTCCCTCCCCTCTCATCCATCGTCAGCCATGGCTCACCGGGACAGGGCAGGGGAGGTGGGAGGGCAGGGGGCTGGGTTGGTCTTGTGGTGACCCCTCTCCTTCTGGCCCAGGCACCCCTCTCACGGTGCTCAATGGGCCCATCCTGGCCCTGGATGCAGACCAAGACATCTACGCCGTGGTGACCTACCAGCTGCTGGGTGCCCAGAGTGGCCTCTTTGACATCAACAGCAGCACCGGTGAGGCCTCTGTGCCACCCAGCACTCCCAGCCTGATTCTGGGGTGGGGATGGCCACACTGCTGGATTGAGGGCCTCCCTTCTCAGTGCTGGACCCAGGCTGTCCGTGGAGACCCCATTTTTCACAGCCCAGAGTCCCCATCTTGCAGCTGGGTTATATCACCCAGTGGCCTGGCAGGGGGACGTGGGAAGAGGCTTGGAGACGATACACAGGACCTCTGTTGGTGCACGAACTCTCAGCCTGGGCCGGGAGCCCCCCAGCCCACTCCCGTCATCTCCCCATGCGCAGGCCAGAGGCTCAGGCCCCTAGTCCAGCAGAAGTAGCCAGAGCGACTTTCCTGTCCTCCAACCAGACCATGCCACATCCGTCTGGTCCTGGACAGGAGGCCGCTTTGGTGACAGGTGCCGACAGGAAAGCACATCTGTCAACAGAGACGGTCAACCCTGTGCCCTGGGTCACTCTTCCCAGGCAAGAGTCTTGAAGACAGCAGAGGGCACCTGCAGAGGGGACAACCACAGGAAATGCATGGGGCCCTCCCTCAGCACGGGTGGTTGAGCCTGTGGGGGAGAAAGTCATTTTGTTACTGCCTCTGCTCCTCTTTCATCTCTGTCCCATGGTGCCCCTGTCTTTCTCTGCTCTCTCCCTGTTGGTTCTTGCCCTGTCTTCCCACCGCACCCCTTTTCTGTGTGTTTCCCTGGCTGGCGGCACCGGGTGCCAGGTGTGGTGACCGTGAGGTCAGGTGTCATCATTGACCGGGAGGCATTCTCGCCACCCATCCTGGAGCTGCTGCTGCTGGCTGAGGACATCGGGCTGCTCAACAGCACGGCCCACCTGCTCATCACCATCCTGGATGACAATGACAACCGGCCCACCTTTAGCCCTGCCACCCTCACTGTCCATCTGCTAGAGAACTGCCCGCCTGGTAAGCAGGGGACAGGCCCCAGCACCCCACAACCAGGGGCCGGTTGGTGGTCACAGGGGACTGGAGCCTCAGGTTGGACACGGAGTTTGCCTCCAGTGGGGAGAAAGATGGGCAGCAGGGTGAGTGTAGAACACACTGGAGAGGGAGTCAGGAGACCTGGGCCCCTGCTTCCCTCCTCTGAGCTTCTGTATCTTGCCTGCAAAACAAGATTCTTTTTTCCTTTCTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTAAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTACAAGATTCCTAAGTATTCTCCATTTGAATTCCCAGATGGAAAGACTGACTATTTTAAAGTCAAAATAGGATCAACATGATTCCCATCAAAATCAAATATAACTTCTGGAAGAATAAGAAAATTTTGAAAAACATAAGTATAATAAGCCAGATTTGGCTTACCAGATTTTATAACATATTATAAAGCTACAGTATTTAAGGCCATGCAATATGGGCACAAGACTCCAGGACAAAGTAGCCCAGAAACAGATACTGGTAAATTAAAGAATAAAATATGATGTGATAAAGGAAGCAATGAGGCCAATGGGGAAGCTACTTATTCAGTGTGCAAAAACCTATTTAATCTAATCAATTACATCCAATTATTATAATCTGTATGTAATCTAATATAATAATAATGTAATATTTAGTGTAGATTCTCCCCCATGTCAGACACCAAAATAAAAACCAAAAGAAAATATTAAAAAGTAGAAAACACTAAACAATAAATGAAGAAAACTTAGGTGAATAACTCATTTCTGGGTAAGAAGGTTCTAAGCATAAAAGAAAAGAACTTAAGAGGAAAAATATTAAATTTCTATGCATGCTAATTTAAACCTTGTTACATCAAATAATTATAGCCAATATTGAAAGGCAAACAACAAACCAAAAAGTATATTTGTCTTGGTCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCTGGAGTTCCAGACCAGCCTGACATGGAGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTAGTGGGTGCCTGTAATCCCAGCTACTCAGGAGTCTGCTGCATAAGAATCACTTGAACCTGGGAAGCAGAGGTTGCAGTAAGCCGAGATCACACCACTGCACTCCAGCCTAGGTGACAGTGTAAGACTCCATCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATGTCTCAAGTTGTCATAATTATGTGACTTGTATAATTGACAGAAAAATGGACAAAAGACAAAAGCAGACCATTTGCAGAAGATACAACTAATTATTACATTATAAAATATTGTTTAATCAAAGAATATAAAATAAAATAACATGCCATTTTCCTATAAAATTGCAAGTATGAAAAAGGTATAAAAGAAAATGCTGTCAAGGCTGTCATGAGAAGGGGACTTGAGAAGATCACCAACAAATGTGTCTTGGTAGATCTTTCTGGAAGAGGCCACTGTGCGCAGCTACTCCCTTTTCCCTCTCCAACAGGATTCTCAGTCCTTCAAGTCACAGCCACAGATG
|
TATGCCTAACGGCATAGCTGAACCTAGACCCCAGTGGGTGCGGGAGGGGAAGGATGGGTGCAGCTCCGGGAGATGGTGGGCTGGGGCTCCCGGGCCTCCTATGAGCACAAAGAAGCCACAGGTCTGGTTGGAAGAGACAGTCGTGGTCATTGTTCCCCAGGGTGGTCTGAGAGCTGCCCCACCATCCCTCAAGAAGGGCATGTAAGGTGTGAGGACTACCCCGGAGGGGAGTGGGTCCACCCCTCACTGCTCCCTCCACCCCAGGAGTGCAGGGCATCCCAGGGCCTTCTGGAAGCCCTGGGGAGCATCTATAACTAGAAGTGGGAGGTCAGGGGGTCCTGGGTAGGCCAGTGTAGCCCTCTCCCCACACACATGCACTGACCAGGCTCACCTCCCTCCAGAGGGACAGAATCTCCTCTGTGATGTCCCCTGAGGTGGCACCTGCACTCCTCCAGTCTCCCCAGCCCCTGTTCCTCATCTCTGGCTGGGCATCCCCCCTAGGTGAATTTCATTCTTAAACCTGTCTGTGTGTATGCTCACACATGTGCCCGTGTGTGTCCATACCAAGGCATGTGCGTGGGGTTACACATGTGCACAGACACATATAGGTACATGGGTGCCCACTGATGCGCTCGTGTGCAGACATGCCCACCTGCAGAGGCACACGAGTGCACAACCAGGGAATCCCAGGCCTGTGCGTGCTCCTGGACAAGTGCCTGTGGCCATGTGAACACAGAACTTGATGCACACATGAGTGGGTTTTTCTAGTCATGTATGGCCAGGCCCCCAAAGGCAGAGCATTGTGTGAACACATGTGTTGACAGGCGAGACCCACACATGGGGAGGGGATGTCAGGGAGCCCCAGACCCTCCCGAGGAGCGGCCAGCCTCAAAGGCTGCTGGGAAGGCAGATGTGGCTCTGGGCAGCCGGGGCCTTGCTCACCACTCTCATGTTTTCTCCCCAGCAGGGCTTTGAGGCCGCTCCCCAGGCATCTGCGTTCAGTCTGCCAAGGCTGCCGCAGGCCCGCCCCCAGGGCCTCCCCACCCTGTCCACCTCACCTCCCTCCCCTCTCATCCATCGTCAGCCATGGCTCACCGGGACAGGGCAGGGGAGGTGGGAGGGCAGGGGGCTGGGTTGGTCTTGTGGTGACCCCTCTCCTTCTGGCCCAGGCACCCCTCTCACGGTGCTCAATGGGCCCATCCTGGCCCTGGATGCAGACCAAGACATCTACGCCGTGGTGACCTACCAGCTGCTGGGTGCCCAGAGTGGCCTCTTTGACATCAACAGCAGCACCGGTGAGGCCTCTGTGCCACCCAGCACTCCCAGCCTGATTCTGGGGTGGGGATGGCCACACTGCTGGATTGAGGGCCTCCCTTCTCAGTGCTGGACCCAGGCTGTCCGTGGAGACCCCATTTTTCACAGCCCAGAGTCCCCATCTTGCAGCTGGGTTATATCACCCAGTGGCCTGGCAGGGGGACGTGGGAAGAGGCTTGGAGACGATACACAGGACCTCTGTTGGTGCACGAACTCTCAGCCTGGGCCGGGAGCCCCCCAGCCCACTCCCGTCATCTCCCCATGCGCAGGCCAGAGGCTCAGGCCCCTAGTCCAGCAGAAGTAGCCAGAGCGACTTTCCTGTCCTCCAACCAGACCATGCCACATCCGTCTGGTCCTGGACAGGAGGCCGCTTTGGTGACAGGTGCCGACAGGAAAGCACATCTGTCAACAGAGACGGTCAACCCTGTGCCCTGGGTCACTCTTCCCAGGCAAGAGTCTTGAAGACAGCAGAGGGCACCTGCAGAGGGGACAACCACAGGAAATGCATGGGGCCCTCCCTCAGCACGGGTGGTTGAGCCTGTGGGGGAGAAAGTCATTTTGTTACTGCCTCTGCTCCTCTTTCATCTCTGTCCCATGGTGCCCCTGTCTTTCTCTGCTCTCTCCCTGTTGGTTCTTGCCCTGTCTTCCCACCGCACCCCTTTTCTGTGTGTTTCCCTGGCTGGCGGCACCGGGTGCCAGGTGTGGTGACCGTGAGGTCAGGTGTCATCATTGACTGGGAGGCATTCTCGCCACCCATCCTGGAGCTGCTGCTGCTGGCTGAGGACATCGGGCTGCTCAACAGCACGGCCCACCTGCTCATCACCATCCTGGATGACAATGACAACCGGCCCACCTTTAGCCCTGCCACCCTCACTGTCCATCTGCTAGAGAACTGCCCGCCTGGTAAGCAGGGGACAGGCCCCAGCACCCCACAACCAGGGGCCGGTTGGTGGTCACAGGGGACTGGAGCCTCAGGTTGGACACGGAGTTTGCCTCCAGTGGGGAGAAAGATGGGCAGCAGGGTGAGTGTAGAACACACTGGAGAGGGAGTCAGGAGACCTGGGCCCCTGCTTCCCTCCTCTGAGCTTCTGTATCTTGCCTGCAAAACAAGATTCTTTTTTCCTTTCTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTAAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTACAAGATTCCTAAGTATTCTCCATTTGAATTCCCAGATGGAAAGACTGACTATTTTAAAGTCAAAATAGGATCAACATGATTCCCATCAAAATCAAATATAACTTCTGGAAGAATAAGAAAATTTTGAAAAACATAAGTATAATAAGCCAGATTTGGCTTACCAGATTTTATAACATATTATAAAGCTACAGTATTTAAGGCCATGCAATATGGGCACAAGACTCCAGGACAAAGTAGCCCAGAAACAGATACTGGTAAATTAAAGAATAAAATATGATGTGATAAAGGAAGCAATGAGGCCAATGGGGAAGCTACTTATTCAGTGTGCAAAAACCTATTTAATCTAATCAATTACATCCAATTATTATAATCTGTATGTAATCTAATATAATAATAATGTAATATTTAGTGTAGATTCTCCCCCATGTCAGACACCAAAATAAAAACCAAAAGAAAATATTAAAAAGTAGAAAACACTAAACAATAAATGAAGAAAACTTAGGTGAATAACTCATTTCTGGGTAAGAAGGTTCTAAGCATAAAAGAAAAGAACTTAAGAGGAAAAATATTAAATTTCTATGCATGCTAATTTAAACCTTGTTACATCAAATAATTATAGCCAATATTGAAAGGCAAACAACAAACCAAAAAGTATATTTGTCTTGGTCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCTGGAGTTCCAGACCAGCCTGACATGGAGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTAGTGGGTGCCTGTAATCCCAGCTACTCAGGAGTCTGCTGCATAAGAATCACTTGAACCTGGGAAGCAGAGGTTGCAGTAAGCCGAGATCACACCACTGCACTCCAGCCTAGGTGACAGTGTAAGACTCCATCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATGTCTCAAGTTGTCATAATTATGTGACTTGTATAATTGACAGAAAAATGGACAAAAGACAAAAGCAGACCATTTGCAGAAGATACAACTAATTATTACATTATAAAATATTGTTTAATCAAAGAATATAAAATAAAATAACATGCCATTTTCCTATAAAATTGCAAGTATGAAAAAGGTATAAAAGAAAATGCTGTCAAGGCTGTCATGAGAAGGGGACTTGAGAAGATCACCAACAAATGTGTCTTGGTAGATCTTTCTGGAAGAGGCCACTGTGCGCAGCTACTCCCTTTTCCCTCTCCAACAGGATTCTCAGTCCTTCAAGTCACAGCCACAGATG
|
Task1_train_14042
|
An alteration has been detected in CDH23 (cadherin related 23) on Chromosome 10. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Usher syndrome
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CAGAGGCTTAGGTTCAGCCAGCAGAACTGGTAACCAGGGTGTGGGTAGGATGTGAGATGGGAACCCTATGATCTTATAGGAAGCCACAGGGTTAGCACAAAGGAAGCAAAGAATGAGGGGAGGTAACCTGAGGCCACAGACACTGCTTTGGGGGTGCAGGCACTTACGGTGGAGAACGGAGGGGCCCAGTGTTACCTTCTGCCAATCGGGCCCAGGCCATCCTGCCTGCAGCCTGAGGCGTGGGCTGGGAGGGGGCTGCCAGAGGGGTGGATTTTGTGTGGGCAGAGCGAGAGTTGAGTGGGGGAAGTGGGGATGGGGTGGCCTCAAGTTGCCTCAGCCATGAGGTACAGACAGCTGCTATAGGGGAAGCCAGGCCTGGCAGATGATGACTGCTTATCTTCACAGCCCAGAAGCCCACATTTTCCGGAAGGAAGGGCAGACTTGGTCATCTCTTCCATGTCAGAGGCTCAGATGGTTAAGGGCCCAGGCCGGTTACATAGAGGGGATACATACAGCTCAGACAGGATCTAGGGTCTTAAAGATTATCTTGCCCTTTCTCATTGAGCAGTTTAGGAAACCGGGGCACAGGAAGGGCCGAGGGCTCCACCAGGGTCACCTAGCCCTTCCTCTTATGGAACAGCAAGTGAGCACACCACTGGAAAGCCTCCTGTGCTGCAGCCTGAGGGTCAGGTCAATCCTCAGGCAGCCTCTGGGGGGCTGTGGGATGCTGCCATGCTCACCCGGCTTGGCTGAGGCTAAGGAAGGCCTGGCCCAGCCACACTAGTGTCCTTCCCCTCTCCCTCACTCCCTGCCTCCACCACAGCCAAGCTGACTGTCAACGTCCTGGACGTCAATGACAATACGCCCCAGTTCAAGCCCTTTGGGATCACCTACTACATGGAGCGGATCCTGGAGGGGGCCACCCCTGGGACCACACTCATTGCTGTGGCAGCCGTGGACCCTGACAAGGGCCTTAATGGGCTGGTCACCTACACCCTGCTGGACCTGGTGCCCCCAGGGTATGTCCAGCTGGAGGACTCCTCGGCAGGTAGGTTAGAAATCTGTCAGAGGAGGGCTGGGGGACATATATCTCTGCTTGCTTAGTCCCCAAGAGAGACCACAGCCCCTCTGTGGCTCCTCAGTGGACTGGGCCAGATCCAAGATGGCCAGCATTCCATGCCAGATTCCAGATGCCCAAACCAGGGGAAGGGACAGAGTGCTTACTCCTGGGTTGGGATGGAAGCCTCTTGATGTCTGCCGGAAACCTGGGATACCCCACCACCCAAGCTCCTACTATTAGTACCACCGAGGGAGCAGGAAGGCCAAGAAGGAGGTGTCTCAGGTCCTGGGCTAGTTGATGCTCATTCCTGTGACTGGGAGAAGCTTTTTCACCCTCCATAAGAAAAACTGGACACCAGTCCCTCCCTGCCGTGTGCCCTGCAACTGGGTGGTGCTGCCTGACCACCCTCCTTCAAGTGACCACAGCTGCCCCTCGGAGTCCAGGTCTTTCTCCTCATACTTTGGAGAGCTGCCATGAATGAGGAGTGGCCAAAATGGCAGTGGGAGCCTCTGTGTCTTAGGGAAGGTCATTGCCAACCGGACAGTGGACTACGAGGAGGTGCACTGGCTCAACTTTACCGTGAGGGCCTCAGACAACGGGTCCCCGCCCCGGGCAGCTGAGATCCCTGTCTACCTGGAAATCGTGGACATCAATGACAACAACCCCATCTTTGACCAGCCCTCCTACCAGGTGGGTGGCCAGGCCACAGGCTGGGTCCAGGACCTGCGCCCATTCCTTGGGGTCTTTGGGCATCTTCCTCTCCCACCCTGCCAGCCTCTAAGCCCCCTGGGAGTGCCCAGCCCACGAGCAGCTTGATGCCTGCATCAGTGAGTTCTAGGGCTGTGCTCGGGCTCTGGGACTGACCTTGGCCTACTCTCTCTCCCTGCCCCCTGGGCTCCAGGAGGCTGTCTTTGAGGATGTGCCTGTGGGCACAATCATCCTGACAGTCACTGCCACTGATGCTGACTCAGGCAACTTTGCACTCATTGAGTACAGCCTTGGAGATGGAGAGAGCAAGTTTGCCATCAACCCCACCACGGTGAGCAGTGATGGAGGGCCTGGAATTTGGAAGTGGGAAGGACCCAGGGTCAGAGACTGAGCAGCCACCAAAAGTATTGTAGTAATCCCTCTGGGTCTTGTCGCCTGGACATCTGCATCCCCAGAGGTTCTTTAGCCAAGTCAGCAAACCCTGTTCTCAGAGTCCCAGACATTTGGTAGACTGTGGCCTTTCTGTCTCAACAGATGTTTAAGGAAGTGGCCAAGTCTTTTGGAATGAGCCCTTTGTGGGACAACATCTGAGATGTGTCCTCTCCACACTAAAAAAGCATGATTGAAGTCCATGGGGCTTCTTTTTGAGACAGTCAGAAAAGAAGCAGGGGAAGCACTGCAGAAAGTGGGCACAGTGTCTGAGCACCTACTGTATACATGGCCCTATACTCAGTGCTGGGGAAGGGAGGATGCCCCAAAGGGTGCCTCCCACACATTTCCTTGAATCTCAGACTTGTGGAAGACCAGAAATTCAGGAGAAAAGATGGGTGATGATTTCAAATGTCTGCTAATTGGTTCAAAGCTGTTATTTTCAGTATAGAGAGAGAGCCCTGTGGCCTAGGTCTGGTTGGTCAGGCAGGGCCTTCCCCAGTTGCTGGGGCTGGAACTGGACTTTGCCTCCCACTGCCCTGCTCTGTCCACATCTTCTGGCACTCTGCCCTTTCAGCGGGGTTCACTCCTTCCTGCTTGGTATGAGCCATCAGACATGGCTCCAGGCCTGGCATTAAGACAACTGCATATTTATGGGGTGCCTACTATATGCTAGTTCCTGGTCAGGCAGGTAGCTCCAGGCTGGGCTGGTCACCCCATCCCCAGGTAGGTTGGGGTAGTGAGAGCAAGAAGAGCCCCTAGAATGGGAGCTTGCTGGGGGCAGAGGTTATTGTCTCTTTTGTTCAGTGTCAAATCTCCAGAGCCCATAACAGCATCTGGCCATAGTAGGTGCTCAATAAATATCTTTTGAATGATTGAAGGACCTAAAGCCACCCTCCCCCTACTAGGGTGACATCTATGTGCTGTCTTCTCTGGACCGGGAGAAGAAGGACCACTATATCCTGACTGCCTTGGCCAAAGACAACCCTGGGGATGTAGCCAGCAACCGTCGCGAAAATTCAGTGCAGGTGAGGGGTGCCAACCTGGGCCAGGGATGACAGGGACTGGGGTTGTGGAGGCAACAAGCAAAGCCTCTAGCAAGTGGACTGCTGCAGACTGGGAGCAGAGCCCCCCGGTCCCCTTTGAGACACAGTGACAGAAAGGAGAAGGCAAGAGGGTAACTGGATGGGTTACAATGGCTGTGGCTTAGGAAGACAGGGACCCTCTGGGAGAAATCTTTGCCAAACTGCTATTTGGCAAAATATTTTGGCAAATAGGCAGCTAAACATACCTGGGTGTAACCCAAATAATGCCTGGGGCTCCACATGGCCCAGTATCACCATAGTGTCCCATTGAAAGAAACACAGTCCAGAAACCAAACATAATTATAAAGGAATCATCTTTATTTATGTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCCGGCTCACCACAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCTACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACGGGGTTTCTCCATGTTGGTCGGGCTGGTCTCGAACTCCCGACCTCAGGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGATGTGAGCCACCGAGCCCGGCCTATTTATGTCTCTTAAAGAATACTAATGAGGGCTCCAAGTCATAACCCCATTCTCATTCCAGTGTCCACGCAGCTGTTCTGAGGCCAGCATCTCACCCTCTCAGCTCTCAATCCCCTTTTCTATGCAAAGTCCCAGGCCTCAAGGTTTTGCTTCCTCTTTCTCTCTCCTCCCT
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CAGAGGCTTAGGTTCAGCCAGCAGAACTGGTAACCAGGGTGTGGGTAGGATGTGAGATGGGAACCCTATGATCTTATAGGAAGCCACAGGGTTAGCACAAAGGAAGCAAAGAATGAGGGGAGGTAACCTGAGGCCACAGACACTGCTTTGGGGGTGCAGGCACTTACGGTGGAGAACGGAGGGGCCCAGTGTTACCTTCTGCCAATCGGGCCCAGGCCATCCTGCCTGCAGCCTGAGGCGTGGGCTGGGAGGGGGCTGCCAGAGGGGTGGATTTTGTGTGGGCAGAGCGAGAGTTGAGTGGGGGAAGTGGGGATGGGGTGGCCTCAAGTTGCCTCAGCCATGAGGTACAGACAGCTGCTATAGGGGAAGCCAGGCCTGGCAGATGATGACTGCTTATCTTCACAGCCCAGAAGCCCACATTTTCCGGAAGGAAGGGCAGACTTGGTCATCTCTTCCATGTCAGAGGCTCAGATGGTTAAGGGCCCAGGCCGGTTACATAGAGGGGATACATACAGCTCAGACAGGATCTAGGGTCTTAAAGATTATCTTGCCCTTTCTCATTGAGCAGTTTAGGAAACCGGGGCACAGGAAGGGCCGAGGGCTCCACCAGGGTCACCTAGCCCTTCCTCTTATGGAACAGCAAGTGAGCACACCACTGGAAAGCCTCCTGTGCTGCAGCCTGAGGGTCAGGTCAATCCTCAGGCAGCCTCTGGGGGGCTGTGGGATGCTGCCATGCTCACCCGGCTTGGCTGAGGCTAAGGAAGGCCTGGCCCAGCCACACTAGTGTCCTTCCCCTCTCCCTCACTCCCTGCCTCCACCACAGCCAAGCTGACTGTCAACGTCCTGGACGTCAATGACAATACGCCCCAGTTCAAGCCCTTTGGGATCACCTACTACATGGAGCGGATCCTGGAGGGGGCCACCCCTGGGACCACACTCATTGCTGTGGCAGCCGTGGACCCTGACAAGGGCCTTAATGGGCTGGTCACCTACACCCTGCTGGACCTGGTGCCCCCAGGGTATGTCCAGCTGGAGGACTCCTCGGCAGGTAGGTTAGAAATCTGTCAGAGGAGGGCTGGGGGACATATATCTCTGCTTGCTTAGTCCCCAAGAGAGACCACAGCCCCTCTGTGGCTCCTCAGTGGACTGGGCCAGATCCAAGATGGCCAGCATTCCATGCCAGATTCCAGATGCCCAAACCAGGGGAAGGGACAGAGTGCTTACTCCTGGGTTGGGATGGAAGCCTCTTGATGTCTGCCGGAAACCTGGGATACCCCACCACCCAAGCTCCTACTATTAGTACCACCGAGGGAGCAGGAAGGCCAAGAAGGAGGTGTCTCAGGTCCTGGGCTAGTTGATGCTCATTCCTGTGACTGGGAGAAGCTTTTTCACCCTCCATAAGAAAAACTGGACACCAGTCCCTCCCTGCCGTGTGCCCTGCAACTGGGTGGTGCTGCCTGACCACCCTCCTTCAAGTGACCACAGCTGCCCCTCGGAGTCCAGGTCTTTCTCCTCATACTTTGGAGAGCTGCCATGAATGAGGAGTGGCCAAAATGGCAGTGGGAGCCTCTGTGTCTTAGGGAAGGTCATTGCCAACCGGACAGTGGACTACGAGGAGGTGCACTGGCTCAACTTTACCGTGAGGGCCTCAGACAACGGGTCCCCGCCCCGGGCAGCTGAGATCCCTGTCTACCTGGAAATCGTGGACATCAATGACAACAACCCCATCTTTGACCAGCCCTCCTACCAGGTGGGTGGCCAGGCCACAGGCTGGGTCCAGGACCTGCGCCCATTCCTTGGGGTCTTTGGGCATCTTCCTCTCCCACCCTGCCAGCCTCTAAGCCCCCTGGGAGTGCCCAGCCCACGAGCAGCTTGATGCCTGCATCAGTGAGTTCTAGGGCTGTGCTCGGGCTCTGGGACTGACCTTGGCCTACTCTCTCTCCCTGCCCCCTGGGCTCCAGGAGGCTGTCTTTGAGGATGTGCCTGTGGGCACAATCATCCTGACAGTCACTGCCACTGATGCTGACTCAGGCAACTTTGCACTCATTAAGTACAGCCTTGGAGATGGAGAGAGCAAGTTTGCCATCAACCCCACCACGGTGAGCAGTGATGGAGGGCCTGGAATTTGGAAGTGGGAAGGACCCAGGGTCAGAGACTGAGCAGCCACCAAAAGTATTGTAGTAATCCCTCTGGGTCTTGTCGCCTGGACATCTGCATCCCCAGAGGTTCTTTAGCCAAGTCAGCAAACCCTGTTCTCAGAGTCCCAGACATTTGGTAGACTGTGGCCTTTCTGTCTCAACAGATGTTTAAGGAAGTGGCCAAGTCTTTTGGAATGAGCCCTTTGTGGGACAACATCTGAGATGTGTCCTCTCCACACTAAAAAAGCATGATTGAAGTCCATGGGGCTTCTTTTTGAGACAGTCAGAAAAGAAGCAGGGGAAGCACTGCAGAAAGTGGGCACAGTGTCTGAGCACCTACTGTATACATGGCCCTATACTCAGTGCTGGGGAAGGGAGGATGCCCCAAAGGGTGCCTCCCACACATTTCCTTGAATCTCAGACTTGTGGAAGACCAGAAATTCAGGAGAAAAGATGGGTGATGATTTCAAATGTCTGCTAATTGGTTCAAAGCTGTTATTTTCAGTATAGAGAGAGAGCCCTGTGGCCTAGGTCTGGTTGGTCAGGCAGGGCCTTCCCCAGTTGCTGGGGCTGGAACTGGACTTTGCCTCCCACTGCCCTGCTCTGTCCACATCTTCTGGCACTCTGCCCTTTCAGCGGGGTTCACTCCTTCCTGCTTGGTATGAGCCATCAGACATGGCTCCAGGCCTGGCATTAAGACAACTGCATATTTATGGGGTGCCTACTATATGCTAGTTCCTGGTCAGGCAGGTAGCTCCAGGCTGGGCTGGTCACCCCATCCCCAGGTAGGTTGGGGTAGTGAGAGCAAGAAGAGCCCCTAGAATGGGAGCTTGCTGGGGGCAGAGGTTATTGTCTCTTTTGTTCAGTGTCAAATCTCCAGAGCCCATAACAGCATCTGGCCATAGTAGGTGCTCAATAAATATCTTTTGAATGATTGAAGGACCTAAAGCCACCCTCCCCCTACTAGGGTGACATCTATGTGCTGTCTTCTCTGGACCGGGAGAAGAAGGACCACTATATCCTGACTGCCTTGGCCAAAGACAACCCTGGGGATGTAGCCAGCAACCGTCGCGAAAATTCAGTGCAGGTGAGGGGTGCCAACCTGGGCCAGGGATGACAGGGACTGGGGTTGTGGAGGCAACAAGCAAAGCCTCTAGCAAGTGGACTGCTGCAGACTGGGAGCAGAGCCCCCCGGTCCCCTTTGAGACACAGTGACAGAAAGGAGAAGGCAAGAGGGTAACTGGATGGGTTACAATGGCTGTGGCTTAGGAAGACAGGGACCCTCTGGGAGAAATCTTTGCCAAACTGCTATTTGGCAAAATATTTTGGCAAATAGGCAGCTAAACATACCTGGGTGTAACCCAAATAATGCCTGGGGCTCCACATGGCCCAGTATCACCATAGTGTCCCATTGAAAGAAACACAGTCCAGAAACCAAACATAATTATAAAGGAATCATCTTTATTTATGTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCCGGCTCACCACAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCTACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACGGGGTTTCTCCATGTTGGTCGGGCTGGTCTCGAACTCCCGACCTCAGGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGATGTGAGCCACCGAGCCCGGCCTATTTATGTCTCTTAAAGAATACTAATGAGGGCTCCAAGTCATAACCCCATTCTCATTCCAGTGTCCACGCAGCTGTTCTGAGGCCAGCATCTCACCCTCTCAGCTCTCAATCCCCTTTTCTATGCAAAGTCCCAGGCCTCAAGGTTTTGCTTCCTCTTTCTCTCTCCTCCCT
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Task1_train_14043
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The variant affects gene CDH23 (cadherin related 23), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 12
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CAGAGGCTTAGGTTCAGCCAGCAGAACTGGTAACCAGGGTGTGGGTAGGATGTGAGATGGGAACCCTATGATCTTATAGGAAGCCACAGGGTTAGCACAAAGGAAGCAAAGAATGAGGGGAGGTAACCTGAGGCCACAGACACTGCTTTGGGGGTGCAGGCACTTACGGTGGAGAACGGAGGGGCCCAGTGTTACCTTCTGCCAATCGGGCCCAGGCCATCCTGCCTGCAGCCTGAGGCGTGGGCTGGGAGGGGGCTGCCAGAGGGGTGGATTTTGTGTGGGCAGAGCGAGAGTTGAGTGGGGGAAGTGGGGATGGGGTGGCCTCAAGTTGCCTCAGCCATGAGGTACAGACAGCTGCTATAGGGGAAGCCAGGCCTGGCAGATGATGACTGCTTATCTTCACAGCCCAGAAGCCCACATTTTCCGGAAGGAAGGGCAGACTTGGTCATCTCTTCCATGTCAGAGGCTCAGATGGTTAAGGGCCCAGGCCGGTTACATAGAGGGGATACATACAGCTCAGACAGGATCTAGGGTCTTAAAGATTATCTTGCCCTTTCTCATTGAGCAGTTTAGGAAACCGGGGCACAGGAAGGGCCGAGGGCTCCACCAGGGTCACCTAGCCCTTCCTCTTATGGAACAGCAAGTGAGCACACCACTGGAAAGCCTCCTGTGCTGCAGCCTGAGGGTCAGGTCAATCCTCAGGCAGCCTCTGGGGGGCTGTGGGATGCTGCCATGCTCACCCGGCTTGGCTGAGGCTAAGGAAGGCCTGGCCCAGCCACACTAGTGTCCTTCCCCTCTCCCTCACTCCCTGCCTCCACCACAGCCAAGCTGACTGTCAACGTCCTGGACGTCAATGACAATACGCCCCAGTTCAAGCCCTTTGGGATCACCTACTACATGGAGCGGATCCTGGAGGGGGCCACCCCTGGGACCACACTCATTGCTGTGGCAGCCGTGGACCCTGACAAGGGCCTTAATGGGCTGGTCACCTACACCCTGCTGGACCTGGTGCCCCCAGGGTATGTCCAGCTGGAGGACTCCTCGGCAGGTAGGTTAGAAATCTGTCAGAGGAGGGCTGGGGGACATATATCTCTGCTTGCTTAGTCCCCAAGAGAGACCACAGCCCCTCTGTGGCTCCTCAGTGGACTGGGCCAGATCCAAGATGGCCAGCATTCCATGCCAGATTCCAGATGCCCAAACCAGGGGAAGGGACAGAGTGCTTACTCCTGGGTTGGGATGGAAGCCTCTTGATGTCTGCCGGAAACCTGGGATACCCCACCACCCAAGCTCCTACTATTAGTACCACCGAGGGAGCAGGAAGGCCAAGAAGGAGGTGTCTCAGGTCCTGGGCTAGTTGATGCTCATTCCTGTGACTGGGAGAAGCTTTTTCACCCTCCATAAGAAAAACTGGACACCAGTCCCTCCCTGCCGTGTGCCCTGCAACTGGGTGGTGCTGCCTGACCACCCTCCTTCAAGTGACCACAGCTGCCCCTCGGAGTCCAGGTCTTTCTCCTCATACTTTGGAGAGCTGCCATGAATGAGGAGTGGCCAAAATGGCAGTGGGAGCCTCTGTGTCTTAGGGAAGGTCATTGCCAACCGGACAGTGGACTACGAGGAGGTGCACTGGCTCAACTTTACCGTGAGGGCCTCAGACAACGGGTCCCCGCCCCGGGCAGCTGAGATCCCTGTCTACCTGGAAATCGTGGACATCAATGACAACAACCCCATCTTTGACCAGCCCTCCTACCAGGTGGGTGGCCAGGCCACAGGCTGGGTCCAGGACCTGCGCCCATTCCTTGGGGTCTTTGGGCATCTTCCTCTCCCACCCTGCCAGCCTCTAAGCCCCCTGGGAGTGCCCAGCCCACGAGCAGCTTGATGCCTGCATCAGTGAGTTCTAGGGCTGTGCTCGGGCTCTGGGACTGACCTTGGCCTACTCTCTCTCCCTGCCCCCTGGGCTCCAGGAGGCTGTCTTTGAGGATGTGCCTGTGGGCACAATCATCCTGACAGTCACTGCCACTGATGCTGACTCAGGCAACTTTGCACTCATTGAGTACAGCCTTGGAGATGGAGAGAGCAAGTTTGCCATCAACCCCACCACGGTGAGCAGTGATGGAGGGCCTGGAATTTGGAAGTGGGAAGGACCCAGGGTCAGAGACTGAGCAGCCACCAAAAGTATTGTAGTAATCCCTCTGGGTCTTGTCGCCTGGACATCTGCATCCCCAGAGGTTCTTTAGCCAAGTCAGCAAACCCTGTTCTCAGAGTCCCAGACATTTGGTAGACTGTGGCCTTTCTGTCTCAACAGATGTTTAAGGAAGTGGCCAAGTCTTTTGGAATGAGCCCTTTGTGGGACAACATCTGAGATGTGTCCTCTCCACACTAAAAAAGCATGATTGAAGTCCATGGGGCTTCTTTTTGAGACAGTCAGAAAAGAAGCAGGGGAAGCACTGCAGAAAGTGGGCACAGTGTCTGAGCACCTACTGTATACATGGCCCTATACTCAGTGCTGGGGAAGGGAGGATGCCCCAAAGGGTGCCTCCCACACATTTCCTTGAATCTCAGACTTGTGGAAGACCAGAAATTCAGGAGAAAAGATGGGTGATGATTTCAAATGTCTGCTAATTGGTTCAAAGCTGTTATTTTCAGTATAGAGAGAGAGCCCTGTGGCCTAGGTCTGGTTGGTCAGGCAGGGCCTTCCCCAGTTGCTGGGGCTGGAACTGGACTTTGCCTCCCACTGCCCTGCTCTGTCCACATCTTCTGGCACTCTGCCCTTTCAGCGGGGTTCACTCCTTCCTGCTTGGTATGAGCCATCAGACATGGCTCCAGGCCTGGCATTAAGACAACTGCATATTTATGGGGTGCCTACTATATGCTAGTTCCTGGTCAGGCAGGTAGCTCCAGGCTGGGCTGGTCACCCCATCCCCAGGTAGGTTGGGGTAGTGAGAGCAAGAAGAGCCCCTAGAATGGGAGCTTGCTGGGGGCAGAGGTTATTGTCTCTTTTGTTCAGTGTCAAATCTCCAGAGCCCATAACAGCATCTGGCCATAGTAGGTGCTCAATAAATATCTTTTGAATGATTGAAGGACCTAAAGCCACCCTCCCCCTACTAGGGTGACATCTATGTGCTGTCTTCTCTGGACCGGGAGAAGAAGGACCACTATATCCTGACTGCCTTGGCCAAAGACAACCCTGGGGATGTAGCCAGCAACCGTCGCGAAAATTCAGTGCAGGTGAGGGGTGCCAACCTGGGCCAGGGATGACAGGGACTGGGGTTGTGGAGGCAACAAGCAAAGCCTCTAGCAAGTGGACTGCTGCAGACTGGGAGCAGAGCCCCCCGGTCCCCTTTGAGACACAGTGACAGAAAGGAGAAGGCAAGAGGGTAACTGGATGGGTTACAATGGCTGTGGCTTAGGAAGACAGGGACCCTCTGGGAGAAATCTTTGCCAAACTGCTATTTGGCAAAATATTTTGGCAAATAGGCAGCTAAACATACCTGGGTGTAACCCAAATAATGCCTGGGGCTCCACATGGCCCAGTATCACCATAGTGTCCCATTGAAAGAAACACAGTCCAGAAACCAAACATAATTATAAAGGAATCATCTTTATTTATGTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCCGGCTCACCACAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCTACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACGGGGTTTCTCCATGTTGGTCGGGCTGGTCTCGAACTCCCGACCTCAGGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGATGTGAGCCACCGAGCCCGGCCTATTTATGTCTCTTAAAGAATACTAATGAGGGCTCCAAGTCATAACCCCATTCTCATTCCAGTGTCCACGCAGCTGTTCTGAGGCCAGCATCTCACCCTCTCAGCTCTCAATCCCCTTTTCTATGCAAAGTCCCAGGCCTCAAGGTTTTGCTTCCTCTTTCTCTCTCCTCCCT
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CAGAGGCTTAGGTTCAGCCAGCAGAACTGGTAACCAGGGTGTGGGTAGGATGTGAGATGGGAACCCTATGATCTTATAGGAAGCCACAGGGTTAGCACAAAGGAAGCAAAGAATGAGGGGAGGTAACCTGAGGCCACAGACACTGCTTTGGGGGTGCAGGCACTTACGGTGGAGAACGGAGGGGCCCAGTGTTACCTTCTGCCAATCGGGCCCAGGCCATCCTGCCTGCAGCCTGAGGCGTGGGCTGGGAGGGGGCTGCCAGAGGGGTGGATTTTGTGTGGGCAGAGCGAGAGTTGAGTGGGGGAAGTGGGGATGGGGTGGCCTCAAGTTGCCTCAGCCATGAGGTACAGACAGCTGCTATAGGGGAAGCCAGGCCTGGCAGATGATGACTGCTTATCTTCACAGCCCAGAAGCCCACATTTTCCGGAAGGAAGGGCAGACTTGGTCATCTCTTCCATGTCAGAGGCTCAGATGGTTAAGGGCCCAGGCCGGTTACATAGAGGGGATACATACAGCTCAGACAGGATCTAGGGTCTTAAAGATTATCTTGCCCTTTCTCATTGAGCAGTTTAGGAAACCGGGGCACAGGAAGGGCCGAGGGCTCCACCAGGGTCACCTAGCCCTTCCTCTTATGGAACAGCAAGTGAGCACACCACTGGAAAGCCTCCTGTGCTGCAGCCTGAGGGTCAGGTCAATCCTCAGGCAGCCTCTGGGGGGCTGTGGGATGCTGCCATGCTCACCCGGCTTGGCTGAGGCTAAGGAAGGCCTGGCCCAGCCACACTAGTGTCCTTCCCCTCTCCCTCACTCCCTGCCTCCACCACAGCCAAGCTGACTGTCAACGTCCTGGACGTCAATGACAATACGCCCCAGTTCAAGCCCTTTGGGATCACCTACTACATGGAGCGGATCCTGGAGGGGGCCACCCCTGGGACCACACTCATTGCTGTGGCAGCCGTGGACCCTGACAAGGGCCTTAATGGGCTGGTCACCTACACCCTGCTGGACCTGGTGCCCCCAGGGTATGTCCAGCTGGAGGACTCCTCGGCAGGTAGGTTAGAAATCTGTCAGAGGAGGGCTGGGGGACATATATCTCTGCTTGCTTAGTCCCCAAGAGAGACCACAGCCCCTCTGTGGCTCCTCAGTGGACTGGGCCAGATCCAAGATGGCCAGCATTCCATGCCAGATTCCAGATGCCCAAACCAGGGGAAGGGACAGAGTGCTTACTCCTGGGTTGGGATGGAAGCCTCTTGATGTCTGCCGGAAACCTGGGATACCCCACCACCCAAGCTCCTACTATTAGTACCACCGAGGGAGCAGGAAGGCCAAGAAGGAGGTGTCTCAGGTCCTGGGCTAGTTGATGCTCATTCCTGTGACTGGGAGAAGCTTTTTCACCCTCCATAAGAAAAACTGGACACCAGTCCCTCCCTGCCGTGTGCCCTGCAACTGGGTGGTGCTGCCTGACCACCCTCCTTCAAGTGACCACAGCTGCCCCTCGGAGTCCAGGTCTTTCTCCTCATACTTTGGAGAGCTGCCATGAATGAGGAGTGGCCAAAATGGCAGTGGGAGCCTCTGTGTCTTAGGGAAGGTCATTGCCAACCGGACAGTGGACTACGAGGAGGTGCACTGGCTCAACTTTACCGTGAGGGCCTCAGACAACGGGTCCCCGCCCCGGGCAGCTGAGATCCCTGTCTACCTGGAAATCGTGGACATCAATGACAACAACCCCATCTTTGACCAGCCCTCCTACCAGGTGGGTGGCCAGGCCACAGGCTGGGTCCAGGACCTGCGCCCATTCCTTGGGGTCTTTGGGCATCTTCCTCTCCCACCCTGCCAGCCTCTAAGCCCCCTGGGAGTGCCCAGCCCACGAGCAGCTTGATGCCTGCATCAGTGAGTTCTAGGGCTGTGCTCGGGCTCTGGGACTGACCTTGGCCTACTCTCTCTCCCTGCCCCCTGGGCTCCAGGAGGCTGTCTTTGAGGATGTGCCTGTGGGCACAATCATCCTGACAGTCACTGCCACTGATGCTGACTCAGGCAACTTTGCACTCATTAAGTACAGCCTTGGAGATGGAGAGAGCAAGTTTGCCATCAACCCCACCACGGTGAGCAGTGATGGAGGGCCTGGAATTTGGAAGTGGGAAGGACCCAGGGTCAGAGACTGAGCAGCCACCAAAAGTATTGTAGTAATCCCTCTGGGTCTTGTCGCCTGGACATCTGCATCCCCAGAGGTTCTTTAGCCAAGTCAGCAAACCCTGTTCTCAGAGTCCCAGACATTTGGTAGACTGTGGCCTTTCTGTCTCAACAGATGTTTAAGGAAGTGGCCAAGTCTTTTGGAATGAGCCCTTTGTGGGACAACATCTGAGATGTGTCCTCTCCACACTAAAAAAGCATGATTGAAGTCCATGGGGCTTCTTTTTGAGACAGTCAGAAAAGAAGCAGGGGAAGCACTGCAGAAAGTGGGCACAGTGTCTGAGCACCTACTGTATACATGGCCCTATACTCAGTGCTGGGGAAGGGAGGATGCCCCAAAGGGTGCCTCCCACACATTTCCTTGAATCTCAGACTTGTGGAAGACCAGAAATTCAGGAGAAAAGATGGGTGATGATTTCAAATGTCTGCTAATTGGTTCAAAGCTGTTATTTTCAGTATAGAGAGAGAGCCCTGTGGCCTAGGTCTGGTTGGTCAGGCAGGGCCTTCCCCAGTTGCTGGGGCTGGAACTGGACTTTGCCTCCCACTGCCCTGCTCTGTCCACATCTTCTGGCACTCTGCCCTTTCAGCGGGGTTCACTCCTTCCTGCTTGGTATGAGCCATCAGACATGGCTCCAGGCCTGGCATTAAGACAACTGCATATTTATGGGGTGCCTACTATATGCTAGTTCCTGGTCAGGCAGGTAGCTCCAGGCTGGGCTGGTCACCCCATCCCCAGGTAGGTTGGGGTAGTGAGAGCAAGAAGAGCCCCTAGAATGGGAGCTTGCTGGGGGCAGAGGTTATTGTCTCTTTTGTTCAGTGTCAAATCTCCAGAGCCCATAACAGCATCTGGCCATAGTAGGTGCTCAATAAATATCTTTTGAATGATTGAAGGACCTAAAGCCACCCTCCCCCTACTAGGGTGACATCTATGTGCTGTCTTCTCTGGACCGGGAGAAGAAGGACCACTATATCCTGACTGCCTTGGCCAAAGACAACCCTGGGGATGTAGCCAGCAACCGTCGCGAAAATTCAGTGCAGGTGAGGGGTGCCAACCTGGGCCAGGGATGACAGGGACTGGGGTTGTGGAGGCAACAAGCAAAGCCTCTAGCAAGTGGACTGCTGCAGACTGGGAGCAGAGCCCCCCGGTCCCCTTTGAGACACAGTGACAGAAAGGAGAAGGCAAGAGGGTAACTGGATGGGTTACAATGGCTGTGGCTTAGGAAGACAGGGACCCTCTGGGAGAAATCTTTGCCAAACTGCTATTTGGCAAAATATTTTGGCAAATAGGCAGCTAAACATACCTGGGTGTAACCCAAATAATGCCTGGGGCTCCACATGGCCCAGTATCACCATAGTGTCCCATTGAAAGAAACACAGTCCAGAAACCAAACATAATTATAAAGGAATCATCTTTATTTATGTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCCGGCTCACCACAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCTACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACGGGGTTTCTCCATGTTGGTCGGGCTGGTCTCGAACTCCCGACCTCAGGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGATGTGAGCCACCGAGCCCGGCCTATTTATGTCTCTTAAAGAATACTAATGAGGGCTCCAAGTCATAACCCCATTCTCATTCCAGTGTCCACGCAGCTGTTCTGAGGCCAGCATCTCACCCTCTCAGCTCTCAATCCCCTTTTCTATGCAAAGTCCCAGGCCTCAAGGTTTTGCTTCCTCTTTCTCTCTCCTCCCT
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Task1_train_14044
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This variant affects the gene CDH23 (cadherin related 23) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Pituitary adenoma 5, multiple types
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CCGGCTAATTTTGTATTTTCAGTAGAGACGGGGTTTCTCCATGTTGGTCGGGCTGGTCTCGAACTCCCGACCTCAGGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGATGTGAGCCACCGAGCCCGGCCTATTTATGTCTCTTAAAGAATACTAATGAGGGCTCCAAGTCATAACCCCATTCTCATTCCAGTGTCCACGCAGCTGTTCTGAGGCCAGCATCTCACCCTCTCAGCTCTCAATCCCCTTTTCTATGCAAAGTCCCAGGCCTCAAGGTTTTGCTTCCTCTTTCTCTCTCCTCCCTTCTGTCTTTGGCAGGCCTATCTTTCTGTATGCAGTACTCACTTCTCCCTCACAATAATCTCATCATCCAAAGGAAACTCTCTTGAAAGGTCGGGGGTGTGAACAGCTGAATGGGCCAAGACCACTTCTCTTTGGCAGGTAGAGAGAAAGGGCTGGGAACACATGCACATATCCAAACCTCATCCCTGTCACACATGCATGTGCTGTGTTGGGAAAAACACAGCATTTGGGGCCAGAAGACTCAAGTTCCATGAGCTGAGCACACTGCCTTTGTCAGTCAACCTCTCTGAGCCTCCATTGTCAAATCTGCAAAGGAGGGTGCAGATGTGCAATTGGGGACATGAGGTGGTTTGAAAGTGCTCTGTGCACTGAAAGGGGATCTTTAAAGTCACGGCTGCTGGCCGGAGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATCACCTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACCCATCTCTACTAGAAATACAAAAATTAGCCAGGCATGGTGGTGTTTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCGAAGAAAATAAAATGAAGTCACTGCTGTCAAGGGCTCTGAAGAGGATGCAGTTCAGGCAGCTCCCAGCAGCCAGGGAACAAAGGTCCCATGGTTTGCTGTGTCTGTAAGACCTGCCCTGGGCTGGGGGGTCAGCCAGGGAAGCCAAGTCTCCGGCCAGACACAAATCGCAGTCAAGAGAACCTTGGGGAATGGAGGAATGCCACCAATCCAGCACTAAGGGATAGAGATTAGAGCCAGATTTATAGGGCCCTGTGGGGAGCAGCAAGGAATAAAGTAGGAGGTGTGAGGGGATAAGGGGTTTCTGCTTCAGGGCCCAGGTGCAGATTACCTGTTAACCACTGTTCTAGTTGTTGAGTGTTTACTTGAGCCACGCACTGTGCCAAGGATCTAGGATTGTGCAACCAAGGTAACTGAGGCTCAGGGGGTTAAATAAGTTGCTTCAAGTCAGACTCCAACACATTAGAAGACATTACCTCCCTCCCAGGCTGGTGCCTGTCCTTCCTCTATCCAGGCTTACTCCTGCATGACCAGGTCCGCTGAGGCTGCCCCATCCTGCTCCTTACCTTTGGCCTTGACCTCCATCCACCCAGGTGGTGATCCAAGTGCTGGATGTCAATGACTGCCGGCCACAGTTCTCCAAGCCCCAGTTCAGCACAAGCGTGTATGAGAATGAGCCGGCGGGCACCTCGGTCATCACCATGATGGCCACTGACCAGGATGAAGGTCCCAATGGAGAGTTGACCTACTCACTTGAGGGCCCTGGCGTGGGTATGTGGCCTTCCTTGGACACCCATGATGTCTTGGGGGGTGGGAGGGGGAGGCCTGCCAGCCCAGGCCAGGAGTAGAGGGAAGCGTGGGAAGGATGTCTCAACCAGAGCTACTCTCCTGCTCCCACTGCCAGAGGCCTTCCATGTGGACATGGACTCGGGCTTGGTGACCACACAGCGGCCACTGCAGTCCTACGAGAAGTTCAGTCTGACCGTGGTGGCCACAGATGGTGGAGAGCCCCCACTCTGGGGCACCACCATGCTCCTGGTGGAGGTCATCGACGTCAATGACAACCGCCCTGTCTTTGTGCGCCCACCCAACGGCACCATCCTCCACATCAGAGAGGTACTCCTGCCCCGAGGGCCTCCTGCCCACCAGTATTTCCTTCTTCCAGCTGTGGCCTAGAAGAGTGGAAGCACCCCACTCTAAAGGTGGGGAAACTTGGCTTCAGGAAAGTAGCTCCAGGAAAAAAAAAACTTTTTTAATTAAATAAAAGTTTGTAAAGGTGGGAAAACTGAGGCCGGAGAAGGAAGCAGACCTGCCCAGTGCCACACAGGGCAGTATTGAACAGTGGTTACTATATGGGCTGTGCTAGTAAAAGATCTTTGGTTTGGCCAGGTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGAACATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCGATCTCTACTAAAAATGCAAAAAAAAAAAAAAAAAAAAAAGGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGATAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCAAGATCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGCAAAACAGGACTAATAAGTAAATACTCCATCTCTTGCTCCTAGATGTCTACCAAAAAGGACAGACTCCTCTACAACCCACTTCCCCCATACTTGTCTCAGAATAAACACACACGCCCCTTCCATCTGTCTGTTGTTCCTGCTGATACAGTGTGGAGACAGCCTAGGAGCTGAGGCTGAGCATCAAAATAAGAAATGAGGGGAAGTGGCAAGGTTCTGGAATCTCTCCAGGTCTTCCACTTCTCGGTCTAAATTGCCATATAAAGATAGGGGAAGTATTCCTTTGTCTTCTGCTCTCCCCCTTTCTTCTAAGCACACAGGCCCAAAGTGCTCCGTAGTGGCACCATCAGAATGTCTCCCACTTGTTCTTTGTCCCCCAAACTCCACCCAGGCTCCACATCTCAGAATGTCCATGCTAAGTCCATCATGTCACTCTGTCTCCTCTTTGAGGTCCTGCGGGAGAAAACTCTCCCAAGGCTAAGCTCAAAGAAGCGTTGTGCCTTTACCAGGTGCTTTGCTTTTTTACCTTGTGTCTAGTGTCTCATCGGCAGTGATTGAGCAGTCGGTCCTCTTTGCTCTGCTTTGCTCTTTCAGAGTGATCAGGATATCTCGAGTGACCCTGCAGGGACAGGGCTTACACCTTGCTTCCCACCCCTCAGCTTTCATCTTCCTGACCAATTTTTTTCTTTACTCTAGTTTTTTAACTTGATCAATCTTGTTATAATTTATGTATTCTTGTCCCCTGCATTAAATCTCTTTTGTGGAATGAGGCAGGGTACAAATTAATAATAATCTAGTCCTTTTTCACACCAAAAGCCCCATTTATGAACACTTTCCCTTCAAGGGCTTTGCATTTGGAAAGATTTATGTCTCCTGAACAATCAGCATGTATTAATTATCTATATGTCGTCCTACTTGTTATTAATTAGACGTAACTGCCATTTAGAACTTTCAGTTGTCATGATCCATGAGATAAACAATGAAACCATGCTGAGCTGATCATTTTTCAACTAAAAGCAAAGAAACGTGCCCTTTCTTTTTCCCTGGGCAGCCTTGTCATGGGTCAATGTATGATTTCAATGAGGTTTCGAGATCTTGGACTTAGCTCAACAGCGTTCAGGAGACTGAGGCTCAGGGAAGTGAGGTGGCAAGTCCAGGTTCCAGGCAGGTTAGTAACAGACTAGACCCTGATGGCCAACCCCTATCCTATCCACCATGTCACCCTGCCTGTGTCCCCCCCATTTTCAGGTACCCCATTGGATGGATGGTGTTGTTTGGGGACACCCAGAATTCCTGTGTTTGGGGTAGCAGA
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CCGGCTAATTTTGTATTTTCAGTAGAGACGGGGTTTCTCCATGTTGGTCGGGCTGGTCTCGAACTCCCGACCTCAGGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGATGTGAGCCACCGAGCCCGGCCTATTTATGTCTCTTAAAGAATACTAATGAGGGCTCCAAGTCATAACCCCATTCTCATTCCAGTGTCCACGCAGCTGTTCTGAGGCCAGCATCTCACCCTCTCAGCTCTCAATCCCCTTTTCTATGCAAAGTCCCAGGCCTCAAGGTTTTGCTTCCTCTTTCTCTCTCCTCCCTTCTGTCTTTGGCAGGCCTATCTTTCTGTATGCAGTACTCACTTCTCCCTCACAATAATCTCATCATCCAAAGGAAACTCTCTTGAAAGGTCGGGGGTGTGAACAGCTGAATGGGCCAAGACCACTTCTCTTTGGCAGGTAGAGAGAAAGGGCTGGGAACACATGCACATATCCAAACCTCATCCCTGTCACACATGCATGTGCTGTGTTGGGAAAAACACAGCATTTGGGGCCAGAAGACTCAAGTTCCATGAGCTGAGCACACTGCCTTTGTCAGTCAACCTCTCTGAGCCTCCATTGTCAAATCTGCAAAGGAGGGTGCAGATGTGCAATTGGGGACATGAGGTGGTTTGAAAGTGCTCTGTGCACTGAAAGGGGATCTTTAAAGTCACGGCTGCTGGCCGGAGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATCACCTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACCCATCTCTACTAGAAATACAAAAATTAGCCAGGCATGGTGGTGTTTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCGAAGAAAATAAAATGAAGTCACTGCTGTCAAGGGCTCTGAAGAGGATGCAGTTCAGGCAGCTCCCAGCAGCCAGGGAACAAAGGTCCCATGGTTTGCTGTGTCTGTAAGACCTGCCCTGGGCTGGGGGGTCAGCCAGGGAAGCCAAGTCTCCGGCCAGACACAAATCGCAGTCAAGAGAACCTTGGGGAATGGAGGAATGCCACCAATCCAGCACTAAGGGATAGAGATTAGAGCCAGATTTATAGGGCCCTGTGGGGAGCAGCAAGGAATAAAGTAGGAGGTGTGAGGGGATAAGGGGTTTCTGCTTCAGGGCCCAGGTGCAGATTACCTGTTAACCACTGTTCTAGTTGTTGAGTGTTTACTTGAGCCACGCACTGTGCCAAGGATCTAGGATTGTGCAACCAAGGTAACTGAGGCTCAGGGGGTTAAATAAGTTGCTTCAAGTCAGACTCCAACACATTAGAAGACATTACCTCCCTCCCAGGCTGGTGCCTGTCCTTCCTCTATCCAGGCTTACTCCTGCATGACCAGGTCCGCTGAGGCTGCCCCATCCTGCTCCTTACCTTTGGCCTTGACCTCCATCCACCCAGGTGGTGATCCAAGTGCTGGATGTCAATGACTGCCGGCCACAGTTCTCCAAGCCCCAGTTCAGCACAAGCGTGTATGAGAATGAGCCGGCGGGCACCTCGGTCATCACCATGATGGCCACTGACCAGGATGAAGGTCCCAATGGAGAGTTGACCTACTCACTTGAGGGCCCTGGCGTGGGTATGTGGCCTTCCTTGGACACCCATGATGTCTTGGGGGGTGGGAGGGGGAGGCCTGCCAGCCCAGGCCAGGAGTAGAGGGAAGCGTGGGAAGGATGTCTCAACCAGAGCTACTCTCCTGCTCCCACTGCCAGAGGCCTTCCATGTGGACATGGACTCGGGCTTGGTGACCACACAGCGGCCACTGCAGTCCTACGAGAAGTTCAGTCTGACCGTGGTGGCCACAGATGGTGGAGAGCCCCCACTCTGGGGCACCACCATGCTCCTGGTGGAGGTCATCGACGTCAGTGACAACCGCCCTGTCTTTGTGCGCCCACCCAACGGCACCATCCTCCACATCAGAGAGGTACTCCTGCCCCGAGGGCCTCCTGCCCACCAGTATTTCCTTCTTCCAGCTGTGGCCTAGAAGAGTGGAAGCACCCCACTCTAAAGGTGGGGAAACTTGGCTTCAGGAAAGTAGCTCCAGGAAAAAAAAAACTTTTTTAATTAAATAAAAGTTTGTAAAGGTGGGAAAACTGAGGCCGGAGAAGGAAGCAGACCTGCCCAGTGCCACACAGGGCAGTATTGAACAGTGGTTACTATATGGGCTGTGCTAGTAAAAGATCTTTGGTTTGGCCAGGTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGAACATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCGATCTCTACTAAAAATGCAAAAAAAAAAAAAAAAAAAAAAGGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGATAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCAAGATCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGCAAAACAGGACTAATAAGTAAATACTCCATCTCTTGCTCCTAGATGTCTACCAAAAAGGACAGACTCCTCTACAACCCACTTCCCCCATACTTGTCTCAGAATAAACACACACGCCCCTTCCATCTGTCTGTTGTTCCTGCTGATACAGTGTGGAGACAGCCTAGGAGCTGAGGCTGAGCATCAAAATAAGAAATGAGGGGAAGTGGCAAGGTTCTGGAATCTCTCCAGGTCTTCCACTTCTCGGTCTAAATTGCCATATAAAGATAGGGGAAGTATTCCTTTGTCTTCTGCTCTCCCCCTTTCTTCTAAGCACACAGGCCCAAAGTGCTCCGTAGTGGCACCATCAGAATGTCTCCCACTTGTTCTTTGTCCCCCAAACTCCACCCAGGCTCCACATCTCAGAATGTCCATGCTAAGTCCATCATGTCACTCTGTCTCCTCTTTGAGGTCCTGCGGGAGAAAACTCTCCCAAGGCTAAGCTCAAAGAAGCGTTGTGCCTTTACCAGGTGCTTTGCTTTTTTACCTTGTGTCTAGTGTCTCATCGGCAGTGATTGAGCAGTCGGTCCTCTTTGCTCTGCTTTGCTCTTTCAGAGTGATCAGGATATCTCGAGTGACCCTGCAGGGACAGGGCTTACACCTTGCTTCCCACCCCTCAGCTTTCATCTTCCTGACCAATTTTTTTCTTTACTCTAGTTTTTTAACTTGATCAATCTTGTTATAATTTATGTATTCTTGTCCCCTGCATTAAATCTCTTTTGTGGAATGAGGCAGGGTACAAATTAATAATAATCTAGTCCTTTTTCACACCAAAAGCCCCATTTATGAACACTTTCCCTTCAAGGGCTTTGCATTTGGAAAGATTTATGTCTCCTGAACAATCAGCATGTATTAATTATCTATATGTCGTCCTACTTGTTATTAATTAGACGTAACTGCCATTTAGAACTTTCAGTTGTCATGATCCATGAGATAAACAATGAAACCATGCTGAGCTGATCATTTTTCAACTAAAAGCAAAGAAACGTGCCCTTTCTTTTTCCCTGGGCAGCCTTGTCATGGGTCAATGTATGATTTCAATGAGGTTTCGAGATCTTGGACTTAGCTCAACAGCGTTCAGGAGACTGAGGCTCAGGGAAGTGAGGTGGCAAGTCCAGGTTCCAGGCAGGTTAGTAACAGACTAGACCCTGATGGCCAACCCCTATCCTATCCACCATGTCACCCTGCCTGTGTCCCCCCCATTTTCAGGTACCCCATTGGATGGATGGTGTTGTTTGGGGACACCCAGAATTCCTGTGTTTGGGGTAGCAGA
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Task1_train_14045
|
The gene CDH23, LOC111982869 (cadherin related 23| Sharpr-MPRA regulatory region 2121), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; not provided
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CTAAAAATGCAAAAAAAAAAAAAAAAAAAAAAGGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGATAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCAAGATCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGCAAAACAGGACTAATAAGTAAATACTCCATCTCTTGCTCCTAGATGTCTACCAAAAAGGACAGACTCCTCTACAACCCACTTCCCCCATACTTGTCTCAGAATAAACACACACGCCCCTTCCATCTGTCTGTTGTTCCTGCTGATACAGTGTGGAGACAGCCTAGGAGCTGAGGCTGAGCATCAAAATAAGAAATGAGGGGAAGTGGCAAGGTTCTGGAATCTCTCCAGGTCTTCCACTTCTCGGTCTAAATTGCCATATAAAGATAGGGGAAGTATTCCTTTGTCTTCTGCTCTCCCCCTTTCTTCTAAGCACACAGGCCCAAAGTGCTCCGTAGTGGCACCATCAGAATGTCTCCCACTTGTTCTTTGTCCCCCAAACTCCACCCAGGCTCCACATCTCAGAATGTCCATGCTAAGTCCATCATGTCACTCTGTCTCCTCTTTGAGGTCCTGCGGGAGAAAACTCTCCCAAGGCTAAGCTCAAAGAAGCGTTGTGCCTTTACCAGGTGCTTTGCTTTTTTACCTTGTGTCTAGTGTCTCATCGGCAGTGATTGAGCAGTCGGTCCTCTTTGCTCTGCTTTGCTCTTTCAGAGTGATCAGGATATCTCGAGTGACCCTGCAGGGACAGGGCTTACACCTTGCTTCCCACCCCTCAGCTTTCATCTTCCTGACCAATTTTTTTCTTTACTCTAGTTTTTTAACTTGATCAATCTTGTTATAATTTATGTATTCTTGTCCCCTGCATTAAATCTCTTTTGTGGAATGAGGCAGGGTACAAATTAATAATAATCTAGTCCTTTTTCACACCAAAAGCCCCATTTATGAACACTTTCCCTTCAAGGGCTTTGCATTTGGAAAGATTTATGTCTCCTGAACAATCAGCATGTATTAATTATCTATATGTCGTCCTACTTGTTATTAATTAGACGTAACTGCCATTTAGAACTTTCAGTTGTCATGATCCATGAGATAAACAATGAAACCATGCTGAGCTGATCATTTTTCAACTAAAAGCAAAGAAACGTGCCCTTTCTTTTTCCCTGGGCAGCCTTGTCATGGGTCAATGTATGATTTCAATGAGGTTTCGAGATCTTGGACTTAGCTCAACAGCGTTCAGGAGACTGAGGCTCAGGGAAGTGAGGTGGCAAGTCCAGGTTCCAGGCAGGTTAGTAACAGACTAGACCCTGATGGCCAACCCCTATCCTATCCACCATGTCACCCTGCCTGTGTCCCCCCCATTTTCAGGTACCCCATTGGATGGATGGTGTTGTTTGGGGACACCCAGAATTCCTGTGTTTGGGGTAGCAGAGAGAGCAAGACTGATACAGGACGAAGGGTGGCTGTGGCCTCAGCACTTAGATCCCCTCTGTCCCCAAAACCTCAGCATGCAATGAATGGGACTGGAAGGGCGGAGGCAGCTCCTGGGAAGATGGTCACCCTGGGAAGGCTTGAAGCATGTGGTTCTCAGGCTGGACTGTCAGTGCAATGGCCTTAGCTTGGGTTGGGGAGGAGAGAAGAGGGACAACAGCTAGCAGAAGCCCAGAATCCAGGAGAATCCAGCCGAGCAGGCAGGCGCTCCTGGCGGGTGCTGTAAGCTGTTGAGGACATTCTGCTACGGCAGGAGAAAGAGCAAGGGCTCCCTCAGGACCTAGGAGCTGAGATTCTTTCAGGGGTCCAGGAGCCTTCCTCCCCATGCTCCCCACAGGAGATCCCGCTGCGCTCCAACGTGTACGAGGTCTACGCCACGGACAAGGATGAGGGCCTCAACGGGGCGGTGCGCTACAGCTTCCTGAAGACTGCGGGCAACCGGGACTGGGAGTTCTTCATCATCGACCCAATCAGCGGCCTCATCCAGACTGCTCAGCGCCTGGACCGCGAGTCGCAGGCGGTGTACAGCGTAAGGGCGGGGCCCGGTGCGAGGGGCGGGGTCTGGGGCGGGGCTTTCTTCTGGGGGCGGGTCTTGCACCTCGCCTCCTGGAAAGTCCCTAGGGGAACTGGCCACCGGGAAGTCCCCAAGCCAATCCCCTCTCCCAGTCTTTTCCTCTGACTGTGCTCTTCCGCTCCTAGCTCATCTTGGTGGCCAGCGACCTGGGCCAGCCAGTGCCATACGAGACTATGCAGCCGCTGCAGGTGGCCCTGGAGGACATCGATGACAACGAACCCCTTTTCGTGAGGCCTCCAGTGAGCTTGCCCACCTCCTGCGCTGGTCACACCCACACAGGGACTCACCTGCCTGCAAGCACACACTCTCCTATATACACTGTGCCAGAATACACATTTGGCTAGACACGGAAACATGTCTGCATGCACTTCATGCAAGAACAACTATTTATTGAGCAGCTGTGTTACACTATATTGAGCTATATTGAGCGCTGAAAAAAAAAAAGGCAGACCAAAATGCCTGACTCATGGAGCTGATAGCCCTGTCTTTGCCTGCACACACACATACACACACACAAAGCATGAAAATCAGCTCTGATTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCCGTTGCCGAGGCTGGAGTGCAGTGGCATGACCTTGACTCACTGCAACCTCCACCCGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTGTATTTCTAGTAGAGACGGGTTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGCCTTGGCCTCCCAAAATGCTGAGACTACAGGCATAAGCCACTACGCCCCGCCCAGCTCTGATTTATTGATATAGGGCTGACATGAAATCTGACAGCAAGGCTGAGGGCCCCTCCTGTGGACTCCAACTCTGACATGGTTGTTTTTTCTTCTTGTGTGCACATGGGATGTGATGTTCCTTGGCGACTGCTGAGTGTGAGTGCATACACATGCATGTGCATATAAGAGTAACGTGTGTGCTTCTCTCACTTAAGCACTCATTTGGGTTCTGGGCAACACTCCGTGAGGGCAGAGCTCAGGTCCGCGGGCCATGCTTTGCTCCCTTGAGGTTACAACGGTTCTACTCACCCCATAAGGCCTGGACAGTAAACTCCCTCAGCACCTACAAAGTCACTGCCCAGGGCCCTGAAACAGGGACTGGAAGCTCGGGTCTTCCCTTGGCCCCATGTGATGACATCCCCCTCCCTCTGCAGAAAGGCAGCCCCCAGTACCAGCTGCTGACAGTGCCTGAGCACTCACCACGCGGCACCCTCGTGGGCAACGTGACAGGCGCAGTGGATGCAGATGAGGGCCCCAACGCGATCGTGTACTACTTCATCGCAGGTGGGGCCAGACAGAGCTAGTGCCCTGATTACCCTGGGGCTAGAGATGACCCACATATGCCCTGCTCCTGGCCCTGCCCCCTCACCCTGTGCCATGATCCCACCCTCAGCCGGCAACGAAGAGAAGAACTTCCATCTGCAGCCCGATGGGTGTCTGCTGGTGCTGCGGGACCTGGACCGGGAGCGAGAAGCCATCTTCTCCTTCATCGTCAAGGCCTCCAGCAATCGCAGCTGGACACCTCCCCGTGGACCCTCCCCAACCCTCGACCTGGTTGCTGACCTCACACTGCAGGAGGTGCGCGTTGTGCTAGAGGACATCAACGACCAGCCACCACGCTTCACCAAGGCTGAGTACACTGCAGGTGCAGGGACTGGAGCCTGGGCACGAGGTGTGGGGTGGCCCCTGCCCTGCCACTTACACCACCTGCCTCTTCCTGCAGGGGTGGCCACCGACGCCAAGGTGGGCTCAGAGTTGATCCAGGTGCTGGCCCTGGAT
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CTAAAAATGCAAAAAAAAAAAAAAAAAAAAAAGGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGATAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCAAGATCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGCAAAACAGGACTAATAAGTAAATACTCCATCTCTTGCTCCTAGATGTCTACCAAAAAGGACAGACTCCTCTACAACCCACTTCCCCCATACTTGTCTCAGAATAAACACACACGCCCCTTCCATCTGTCTGTTGTTCCTGCTGATACAGTGTGGAGACAGCCTAGGAGCTGAGGCTGAGCATCAAAATAAGAAATGAGGGGAAGTGGCAAGGTTCTGGAATCTCTCCAGGTCTTCCACTTCTCGGTCTAAATTGCCATATAAAGATAGGGGAAGTATTCCTTTGTCTTCTGCTCTCCCCCTTTCTTCTAAGCACACAGGCCCAAAGTGCTCCGTAGTGGCACCATCAGAATGTCTCCCACTTGTTCTTTGTCCCCCAAACTCCACCCAGGCTCCACATCTCAGAATGTCCATGCTAAGTCCATCATGTCACTCTGTCTCCTCTTTGAGGTCCTGCGGGAGAAAACTCTCCCAAGGCTAAGCTCAAAGAAGCGTTGTGCCTTTACCAGGTGCTTTGCTTTTTTACCTTGTGTCTAGTGTCTCATCGGCAGTGATTGAGCAGTCGGTCCTCTTTGCTCTGCTTTGCTCTTTCAGAGTGATCAGGATATCTCGAGTGACCCTGCAGGGACAGGGCTTACACCTTGCTTCCCACCCCTCAGCTTTCATCTTCCTGACCAATTTTTTTCTTTACTCTAGTTTTTTAACTTGATCAATCTTGTTATAATTTATGTATTCTTGTCCCCTGCATTAAATCTCTTTTGTGGAATGAGGCAGGGTACAAATTAATAATAATCTAGTCCTTTTTCACACCAAAAGCCCCATTTATGAACACTTTCCCTTCAAGGGCTTTGCATTTGGAAAGATTTATGTCTCCTGAACAATCAGCATGTATTAATTATCTATATGTCGTCCTACTTGTTATTAATTAGACGTAACTGCCATTTAGAACTTTCAGTTGTCATGATCCATGAGATAAACAATGAAACCATGCTGAGCTGATCATTTTTCAACTAAAAGCAAAGAAACGTGCCCTTTCTTTTTCCCTGGGCAGCCTTGTCATGGGTCAATGTATGATTTCAATGAGGTTTCGAGATCTTGGACTTAGCTCAACAGCGTTCAGGAGACTGAGGCTCAGGGAAGTGAGGTGGCAAGTCCAGGTTCCAGGCAGGTTAGTAACAGACTAGACCCTGATGGCCAACCCCTATCCTATCCACCATGTCACCCTGCCTGTGTCCCCCCCATTTTCAGGTACCCCATTGGATGGATGGTGTTGTTTGGGGACACCCAGAATTCCTGTGTTTGGGGTAGCAGAGAGAGCAAGACTGATACAGGACGAAGGGTGGCTGTGGCCTCAGCACTTAGATCCCCTCTGTCCCCAAAACCTCAGCATGCAATGAATGGGACTGGAAGGGCGGAGGCAGCTCCTGGGAAGATGGTCACCCTGGGAAGGCTTGAAGCATGTGGTTCTCAGGCTGGACTGTCAGTGCAATGGCCTTAGCTTGGGTTGGGGAGGAGAGAAGAGGGACAACAGCTAGCAGAAGCCCAGAATCCAGGAGAATCCAGCCGAGCAGGCAGGCGCTCCTGGCGGGTGCTGTAAGCTGTTGAGGACATTCTGCTACGGCAGGAGAAAGAGCAAGGGCTCCCTCAGGACCTAGGAGCTGAGATTCTTTCAGGGGTCCAGGAGCCTTCCTCCCCATGCTCCCCACAGGAGATCCCGCTGCGCTCCAACGTGTACGAGGTCTACGCCACGGACAAGAATGAGGGCCTCAACGGGGCGGTGCGCTACAGCTTCCTGAAGACTGCGGGCAACCGGGACTGGGAGTTCTTCATCATCGACCCAATCAGCGGCCTCATCCAGACTGCTCAGCGCCTGGACCGCGAGTCGCAGGCGGTGTACAGCGTAAGGGCGGGGCCCGGTGCGAGGGGCGGGGTCTGGGGCGGGGCTTTCTTCTGGGGGCGGGTCTTGCACCTCGCCTCCTGGAAAGTCCCTAGGGGAACTGGCCACCGGGAAGTCCCCAAGCCAATCCCCTCTCCCAGTCTTTTCCTCTGACTGTGCTCTTCCGCTCCTAGCTCATCTTGGTGGCCAGCGACCTGGGCCAGCCAGTGCCATACGAGACTATGCAGCCGCTGCAGGTGGCCCTGGAGGACATCGATGACAACGAACCCCTTTTCGTGAGGCCTCCAGTGAGCTTGCCCACCTCCTGCGCTGGTCACACCCACACAGGGACTCACCTGCCTGCAAGCACACACTCTCCTATATACACTGTGCCAGAATACACATTTGGCTAGACACGGAAACATGTCTGCATGCACTTCATGCAAGAACAACTATTTATTGAGCAGCTGTGTTACACTATATTGAGCTATATTGAGCGCTGAAAAAAAAAAAGGCAGACCAAAATGCCTGACTCATGGAGCTGATAGCCCTGTCTTTGCCTGCACACACACATACACACACACAAAGCATGAAAATCAGCTCTGATTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCCGTTGCCGAGGCTGGAGTGCAGTGGCATGACCTTGACTCACTGCAACCTCCACCCGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTGTATTTCTAGTAGAGACGGGTTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGCCTTGGCCTCCCAAAATGCTGAGACTACAGGCATAAGCCACTACGCCCCGCCCAGCTCTGATTTATTGATATAGGGCTGACATGAAATCTGACAGCAAGGCTGAGGGCCCCTCCTGTGGACTCCAACTCTGACATGGTTGTTTTTTCTTCTTGTGTGCACATGGGATGTGATGTTCCTTGGCGACTGCTGAGTGTGAGTGCATACACATGCATGTGCATATAAGAGTAACGTGTGTGCTTCTCTCACTTAAGCACTCATTTGGGTTCTGGGCAACACTCCGTGAGGGCAGAGCTCAGGTCCGCGGGCCATGCTTTGCTCCCTTGAGGTTACAACGGTTCTACTCACCCCATAAGGCCTGGACAGTAAACTCCCTCAGCACCTACAAAGTCACTGCCCAGGGCCCTGAAACAGGGACTGGAAGCTCGGGTCTTCCCTTGGCCCCATGTGATGACATCCCCCTCCCTCTGCAGAAAGGCAGCCCCCAGTACCAGCTGCTGACAGTGCCTGAGCACTCACCACGCGGCACCCTCGTGGGCAACGTGACAGGCGCAGTGGATGCAGATGAGGGCCCCAACGCGATCGTGTACTACTTCATCGCAGGTGGGGCCAGACAGAGCTAGTGCCCTGATTACCCTGGGGCTAGAGATGACCCACATATGCCCTGCTCCTGGCCCTGCCCCCTCACCCTGTGCCATGATCCCACCCTCAGCCGGCAACGAAGAGAAGAACTTCCATCTGCAGCCCGATGGGTGTCTGCTGGTGCTGCGGGACCTGGACCGGGAGCGAGAAGCCATCTTCTCCTTCATCGTCAAGGCCTCCAGCAATCGCAGCTGGACACCTCCCCGTGGACCCTCCCCAACCCTCGACCTGGTTGCTGACCTCACACTGCAGGAGGTGCGCGTTGTGCTAGAGGACATCAACGACCAGCCACCACGCTTCACCAAGGCTGAGTACACTGCAGGTGCAGGGACTGGAGCCTGGGCACGAGGTGTGGGGTGGCCCCTGCCCTGCCACTTACACCACCTGCCTCTTCCTGCAGGGGTGGCCACCGACGCCAAGGTGGGCTCAGAGTTGATCCAGGTGCTGGCCCTGGAT
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Task1_train_14046
|
Consider this mutation in CDH23, LOC111982869 (cadherin related 23| Sharpr-MPRA regulatory region 2121) on Chromosome 10. Is this a benign change or a disease-causing variant?
|
Pathogenic; Usher syndrome type 2
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TCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGCAAAACAGGACTAATAAGTAAATACTCCATCTCTTGCTCCTAGATGTCTACCAAAAAGGACAGACTCCTCTACAACCCACTTCCCCCATACTTGTCTCAGAATAAACACACACGCCCCTTCCATCTGTCTGTTGTTCCTGCTGATACAGTGTGGAGACAGCCTAGGAGCTGAGGCTGAGCATCAAAATAAGAAATGAGGGGAAGTGGCAAGGTTCTGGAATCTCTCCAGGTCTTCCACTTCTCGGTCTAAATTGCCATATAAAGATAGGGGAAGTATTCCTTTGTCTTCTGCTCTCCCCCTTTCTTCTAAGCACACAGGCCCAAAGTGCTCCGTAGTGGCACCATCAGAATGTCTCCCACTTGTTCTTTGTCCCCCAAACTCCACCCAGGCTCCACATCTCAGAATGTCCATGCTAAGTCCATCATGTCACTCTGTCTCCTCTTTGAGGTCCTGCGGGAGAAAACTCTCCCAAGGCTAAGCTCAAAGAAGCGTTGTGCCTTTACCAGGTGCTTTGCTTTTTTACCTTGTGTCTAGTGTCTCATCGGCAGTGATTGAGCAGTCGGTCCTCTTTGCTCTGCTTTGCTCTTTCAGAGTGATCAGGATATCTCGAGTGACCCTGCAGGGACAGGGCTTACACCTTGCTTCCCACCCCTCAGCTTTCATCTTCCTGACCAATTTTTTTCTTTACTCTAGTTTTTTAACTTGATCAATCTTGTTATAATTTATGTATTCTTGTCCCCTGCATTAAATCTCTTTTGTGGAATGAGGCAGGGTACAAATTAATAATAATCTAGTCCTTTTTCACACCAAAAGCCCCATTTATGAACACTTTCCCTTCAAGGGCTTTGCATTTGGAAAGATTTATGTCTCCTGAACAATCAGCATGTATTAATTATCTATATGTCGTCCTACTTGTTATTAATTAGACGTAACTGCCATTTAGAACTTTCAGTTGTCATGATCCATGAGATAAACAATGAAACCATGCTGAGCTGATCATTTTTCAACTAAAAGCAAAGAAACGTGCCCTTTCTTTTTCCCTGGGCAGCCTTGTCATGGGTCAATGTATGATTTCAATGAGGTTTCGAGATCTTGGACTTAGCTCAACAGCGTTCAGGAGACTGAGGCTCAGGGAAGTGAGGTGGCAAGTCCAGGTTCCAGGCAGGTTAGTAACAGACTAGACCCTGATGGCCAACCCCTATCCTATCCACCATGTCACCCTGCCTGTGTCCCCCCCATTTTCAGGTACCCCATTGGATGGATGGTGTTGTTTGGGGACACCCAGAATTCCTGTGTTTGGGGTAGCAGAGAGAGCAAGACTGATACAGGACGAAGGGTGGCTGTGGCCTCAGCACTTAGATCCCCTCTGTCCCCAAAACCTCAGCATGCAATGAATGGGACTGGAAGGGCGGAGGCAGCTCCTGGGAAGATGGTCACCCTGGGAAGGCTTGAAGCATGTGGTTCTCAGGCTGGACTGTCAGTGCAATGGCCTTAGCTTGGGTTGGGGAGGAGAGAAGAGGGACAACAGCTAGCAGAAGCCCAGAATCCAGGAGAATCCAGCCGAGCAGGCAGGCGCTCCTGGCGGGTGCTGTAAGCTGTTGAGGACATTCTGCTACGGCAGGAGAAAGAGCAAGGGCTCCCTCAGGACCTAGGAGCTGAGATTCTTTCAGGGGTCCAGGAGCCTTCCTCCCCATGCTCCCCACAGGAGATCCCGCTGCGCTCCAACGTGTACGAGGTCTACGCCACGGACAAGGATGAGGGCCTCAACGGGGCGGTGCGCTACAGCTTCCTGAAGACTGCGGGCAACCGGGACTGGGAGTTCTTCATCATCGACCCAATCAGCGGCCTCATCCAGACTGCTCAGCGCCTGGACCGCGAGTCGCAGGCGGTGTACAGCGTAAGGGCGGGGCCCGGTGCGAGGGGCGGGGTCTGGGGCGGGGCTTTCTTCTGGGGGCGGGTCTTGCACCTCGCCTCCTGGAAAGTCCCTAGGGGAACTGGCCACCGGGAAGTCCCCAAGCCAATCCCCTCTCCCAGTCTTTTCCTCTGACTGTGCTCTTCCGCTCCTAGCTCATCTTGGTGGCCAGCGACCTGGGCCAGCCAGTGCCATACGAGACTATGCAGCCGCTGCAGGTGGCCCTGGAGGACATCGATGACAACGAACCCCTTTTCGTGAGGCCTCCAGTGAGCTTGCCCACCTCCTGCGCTGGTCACACCCACACAGGGACTCACCTGCCTGCAAGCACACACTCTCCTATATACACTGTGCCAGAATACACATTTGGCTAGACACGGAAACATGTCTGCATGCACTTCATGCAAGAACAACTATTTATTGAGCAGCTGTGTTACACTATATTGAGCTATATTGAGCGCTGAAAAAAAAAAAGGCAGACCAAAATGCCTGACTCATGGAGCTGATAGCCCTGTCTTTGCCTGCACACACACATACACACACACAAAGCATGAAAATCAGCTCTGATTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCCGTTGCCGAGGCTGGAGTGCAGTGGCATGACCTTGACTCACTGCAACCTCCACCCGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTGTATTTCTAGTAGAGACGGGTTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGCCTTGGCCTCCCAAAATGCTGAGACTACAGGCATAAGCCACTACGCCCCGCCCAGCTCTGATTTATTGATATAGGGCTGACATGAAATCTGACAGCAAGGCTGAGGGCCCCTCCTGTGGACTCCAACTCTGACATGGTTGTTTTTTCTTCTTGTGTGCACATGGGATGTGATGTTCCTTGGCGACTGCTGAGTGTGAGTGCATACACATGCATGTGCATATAAGAGTAACGTGTGTGCTTCTCTCACTTAAGCACTCATTTGGGTTCTGGGCAACACTCCGTGAGGGCAGAGCTCAGGTCCGCGGGCCATGCTTTGCTCCCTTGAGGTTACAACGGTTCTACTCACCCCATAAGGCCTGGACAGTAAACTCCCTCAGCACCTACAAAGTCACTGCCCAGGGCCCTGAAACAGGGACTGGAAGCTCGGGTCTTCCCTTGGCCCCATGTGATGACATCCCCCTCCCTCTGCAGAAAGGCAGCCCCCAGTACCAGCTGCTGACAGTGCCTGAGCACTCACCACGCGGCACCCTCGTGGGCAACGTGACAGGCGCAGTGGATGCAGATGAGGGCCCCAACGCGATCGTGTACTACTTCATCGCAGGTGGGGCCAGACAGAGCTAGTGCCCTGATTACCCTGGGGCTAGAGATGACCCACATATGCCCTGCTCCTGGCCCTGCCCCCTCACCCTGTGCCATGATCCCACCCTCAGCCGGCAACGAAGAGAAGAACTTCCATCTGCAGCCCGATGGGTGTCTGCTGGTGCTGCGGGACCTGGACCGGGAGCGAGAAGCCATCTTCTCCTTCATCGTCAAGGCCTCCAGCAATCGCAGCTGGACACCTCCCCGTGGACCCTCCCCAACCCTCGACCTGGTTGCTGACCTCACACTGCAGGAGGTGCGCGTTGTGCTAGAGGACATCAACGACCAGCCACCACGCTTCACCAAGGCTGAGTACACTGCAGGTGCAGGGACTGGAGCCTGGGCACGAGGTGTGGGGTGGCCCCTGCCCTGCCACTTACACCACCTGCCTCTTCCTGCAGGGGTGGCCACCGACGCCAAGGTGGGCTCAGAGTTGATCCAGGTGCTGGCCCTGGATGCAGACATTGGCAACAACAGCCTTGTCTTCTACAGCATTCTGGCCATCCACTACTTCCGGGCCCTTGCCAACGACTCTGAAGATGTGGGCCAGGTCTTCACCATGGGTAGGGCCTGGCAGCACATGAGTGGC
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TCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGCAAAACAGGACTAATAAGTAAATACTCCATCTCTTGCTCCTAGATGTCTACCAAAAAGGACAGACTCCTCTACAACCCACTTCCCCCATACTTGTCTCAGAATAAACACACACGCCCCTTCCATCTGTCTGTTGTTCCTGCTGATACAGTGTGGAGACAGCCTAGGAGCTGAGGCTGAGCATCAAAATAAGAAATGAGGGGAAGTGGCAAGGTTCTGGAATCTCTCCAGGTCTTCCACTTCTCGGTCTAAATTGCCATATAAAGATAGGGGAAGTATTCCTTTGTCTTCTGCTCTCCCCCTTTCTTCTAAGCACACAGGCCCAAAGTGCTCCGTAGTGGCACCATCAGAATGTCTCCCACTTGTTCTTTGTCCCCCAAACTCCACCCAGGCTCCACATCTCAGAATGTCCATGCTAAGTCCATCATGTCACTCTGTCTCCTCTTTGAGGTCCTGCGGGAGAAAACTCTCCCAAGGCTAAGCTCAAAGAAGCGTTGTGCCTTTACCAGGTGCTTTGCTTTTTTACCTTGTGTCTAGTGTCTCATCGGCAGTGATTGAGCAGTCGGTCCTCTTTGCTCTGCTTTGCTCTTTCAGAGTGATCAGGATATCTCGAGTGACCCTGCAGGGACAGGGCTTACACCTTGCTTCCCACCCCTCAGCTTTCATCTTCCTGACCAATTTTTTTCTTTACTCTAGTTTTTTAACTTGATCAATCTTGTTATAATTTATGTATTCTTGTCCCCTGCATTAAATCTCTTTTGTGGAATGAGGCAGGGTACAAATTAATAATAATCTAGTCCTTTTTCACACCAAAAGCCCCATTTATGAACACTTTCCCTTCAAGGGCTTTGCATTTGGAAAGATTTATGTCTCCTGAACAATCAGCATGTATTAATTATCTATATGTCGTCCTACTTGTTATTAATTAGACGTAACTGCCATTTAGAACTTTCAGTTGTCATGATCCATGAGATAAACAATGAAACCATGCTGAGCTGATCATTTTTCAACTAAAAGCAAAGAAACGTGCCCTTTCTTTTTCCCTGGGCAGCCTTGTCATGGGTCAATGTATGATTTCAATGAGGTTTCGAGATCTTGGACTTAGCTCAACAGCGTTCAGGAGACTGAGGCTCAGGGAAGTGAGGTGGCAAGTCCAGGTTCCAGGCAGGTTAGTAACAGACTAGACCCTGATGGCCAACCCCTATCCTATCCACCATGTCACCCTGCCTGTGTCCCCCCCATTTTCAGGTACCCCATTGGATGGATGGTGTTGTTTGGGGACACCCAGAATTCCTGTGTTTGGGGTAGCAGAGAGAGCAAGACTGATACAGGACGAAGGGTGGCTGTGGCCTCAGCACTTAGATCCCCTCTGTCCCCAAAACCTCAGCATGCAATGAATGGGACTGGAAGGGCGGAGGCAGCTCCTGGGAAGATGGTCACCCTGGGAAGGCTTGAAGCATGTGGTTCTCAGGCTGGACTGTCAGTGCAATGGCCTTAGCTTGGGTTGGGGAGGAGAGAAGAGGGACAACAGCTAGCAGAAGCCCAGAATCCAGGAGAATCCAGCCGAGCAGGCAGGCGCTCCTGGCGGGTGCTGTAAGCTGTTGAGGACATTCTGCTACGGCAGGAGAAAGAGCAAGGGCTCCCTCAGGACCTAGGAGCTGAGATTCTTTCAGGGGTCCAGGAGCCTTCCTCCCCATGCTCCCCACAGGAGATCCCGCTGCGCTCCAACGTGTACGAGGTCTACGCCACGGACAAGGATGAGGGCCTCAACGGGGCGGTGCGCTACAGCTTCCTGAAGACTGCGGGCAACCGGGACTGGGAGTTCTTCATCATCGACCCAATCAGCGGCCTCATCCAGACTGCTCAGCGCCTGGACCGCGAGTCGCAGTCGGTGTACAGCGTAAGGGCGGGGCCCGGTGCGAGGGGCGGGGTCTGGGGCGGGGCTTTCTTCTGGGGGCGGGTCTTGCACCTCGCCTCCTGGAAAGTCCCTAGGGGAACTGGCCACCGGGAAGTCCCCAAGCCAATCCCCTCTCCCAGTCTTTTCCTCTGACTGTGCTCTTCCGCTCCTAGCTCATCTTGGTGGCCAGCGACCTGGGCCAGCCAGTGCCATACGAGACTATGCAGCCGCTGCAGGTGGCCCTGGAGGACATCGATGACAACGAACCCCTTTTCGTGAGGCCTCCAGTGAGCTTGCCCACCTCCTGCGCTGGTCACACCCACACAGGGACTCACCTGCCTGCAAGCACACACTCTCCTATATACACTGTGCCAGAATACACATTTGGCTAGACACGGAAACATGTCTGCATGCACTTCATGCAAGAACAACTATTTATTGAGCAGCTGTGTTACACTATATTGAGCTATATTGAGCGCTGAAAAAAAAAAAGGCAGACCAAAATGCCTGACTCATGGAGCTGATAGCCCTGTCTTTGCCTGCACACACACATACACACACACAAAGCATGAAAATCAGCTCTGATTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCCGTTGCCGAGGCTGGAGTGCAGTGGCATGACCTTGACTCACTGCAACCTCCACCCGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTGTATTTCTAGTAGAGACGGGTTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGCCTTGGCCTCCCAAAATGCTGAGACTACAGGCATAAGCCACTACGCCCCGCCCAGCTCTGATTTATTGATATAGGGCTGACATGAAATCTGACAGCAAGGCTGAGGGCCCCTCCTGTGGACTCCAACTCTGACATGGTTGTTTTTTCTTCTTGTGTGCACATGGGATGTGATGTTCCTTGGCGACTGCTGAGTGTGAGTGCATACACATGCATGTGCATATAAGAGTAACGTGTGTGCTTCTCTCACTTAAGCACTCATTTGGGTTCTGGGCAACACTCCGTGAGGGCAGAGCTCAGGTCCGCGGGCCATGCTTTGCTCCCTTGAGGTTACAACGGTTCTACTCACCCCATAAGGCCTGGACAGTAAACTCCCTCAGCACCTACAAAGTCACTGCCCAGGGCCCTGAAACAGGGACTGGAAGCTCGGGTCTTCCCTTGGCCCCATGTGATGACATCCCCCTCCCTCTGCAGAAAGGCAGCCCCCAGTACCAGCTGCTGACAGTGCCTGAGCACTCACCACGCGGCACCCTCGTGGGCAACGTGACAGGCGCAGTGGATGCAGATGAGGGCCCCAACGCGATCGTGTACTACTTCATCGCAGGTGGGGCCAGACAGAGCTAGTGCCCTGATTACCCTGGGGCTAGAGATGACCCACATATGCCCTGCTCCTGGCCCTGCCCCCTCACCCTGTGCCATGATCCCACCCTCAGCCGGCAACGAAGAGAAGAACTTCCATCTGCAGCCCGATGGGTGTCTGCTGGTGCTGCGGGACCTGGACCGGGAGCGAGAAGCCATCTTCTCCTTCATCGTCAAGGCCTCCAGCAATCGCAGCTGGACACCTCCCCGTGGACCCTCCCCAACCCTCGACCTGGTTGCTGACCTCACACTGCAGGAGGTGCGCGTTGTGCTAGAGGACATCAACGACCAGCCACCACGCTTCACCAAGGCTGAGTACACTGCAGGTGCAGGGACTGGAGCCTGGGCACGAGGTGTGGGGTGGCCCCTGCCCTGCCACTTACACCACCTGCCTCTTCCTGCAGGGGTGGCCACCGACGCCAAGGTGGGCTCAGAGTTGATCCAGGTGCTGGCCCTGGATGCAGACATTGGCAACAACAGCCTTGTCTTCTACAGCATTCTGGCCATCCACTACTTCCGGGCCCTTGCCAACGACTCTGAAGATGTGGGCCAGGTCTTCACCATGGGTAGGGCCTGGCAGCACATGAGTGGC
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Task1_train_14047
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The gene CDH23, LOC111982869 (cadherin related 23| Sharpr-MPRA regulatory region 2121), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; not specified
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TCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGCAAAACAGGACTAATAAGTAAATACTCCATCTCTTGCTCCTAGATGTCTACCAAAAAGGACAGACTCCTCTACAACCCACTTCCCCCATACTTGTCTCAGAATAAACACACACGCCCCTTCCATCTGTCTGTTGTTCCTGCTGATACAGTGTGGAGACAGCCTAGGAGCTGAGGCTGAGCATCAAAATAAGAAATGAGGGGAAGTGGCAAGGTTCTGGAATCTCTCCAGGTCTTCCACTTCTCGGTCTAAATTGCCATATAAAGATAGGGGAAGTATTCCTTTGTCTTCTGCTCTCCCCCTTTCTTCTAAGCACACAGGCCCAAAGTGCTCCGTAGTGGCACCATCAGAATGTCTCCCACTTGTTCTTTGTCCCCCAAACTCCACCCAGGCTCCACATCTCAGAATGTCCATGCTAAGTCCATCATGTCACTCTGTCTCCTCTTTGAGGTCCTGCGGGAGAAAACTCTCCCAAGGCTAAGCTCAAAGAAGCGTTGTGCCTTTACCAGGTGCTTTGCTTTTTTACCTTGTGTCTAGTGTCTCATCGGCAGTGATTGAGCAGTCGGTCCTCTTTGCTCTGCTTTGCTCTTTCAGAGTGATCAGGATATCTCGAGTGACCCTGCAGGGACAGGGCTTACACCTTGCTTCCCACCCCTCAGCTTTCATCTTCCTGACCAATTTTTTTCTTTACTCTAGTTTTTTAACTTGATCAATCTTGTTATAATTTATGTATTCTTGTCCCCTGCATTAAATCTCTTTTGTGGAATGAGGCAGGGTACAAATTAATAATAATCTAGTCCTTTTTCACACCAAAAGCCCCATTTATGAACACTTTCCCTTCAAGGGCTTTGCATTTGGAAAGATTTATGTCTCCTGAACAATCAGCATGTATTAATTATCTATATGTCGTCCTACTTGTTATTAATTAGACGTAACTGCCATTTAGAACTTTCAGTTGTCATGATCCATGAGATAAACAATGAAACCATGCTGAGCTGATCATTTTTCAACTAAAAGCAAAGAAACGTGCCCTTTCTTTTTCCCTGGGCAGCCTTGTCATGGGTCAATGTATGATTTCAATGAGGTTTCGAGATCTTGGACTTAGCTCAACAGCGTTCAGGAGACTGAGGCTCAGGGAAGTGAGGTGGCAAGTCCAGGTTCCAGGCAGGTTAGTAACAGACTAGACCCTGATGGCCAACCCCTATCCTATCCACCATGTCACCCTGCCTGTGTCCCCCCCATTTTCAGGTACCCCATTGGATGGATGGTGTTGTTTGGGGACACCCAGAATTCCTGTGTTTGGGGTAGCAGAGAGAGCAAGACTGATACAGGACGAAGGGTGGCTGTGGCCTCAGCACTTAGATCCCCTCTGTCCCCAAAACCTCAGCATGCAATGAATGGGACTGGAAGGGCGGAGGCAGCTCCTGGGAAGATGGTCACCCTGGGAAGGCTTGAAGCATGTGGTTCTCAGGCTGGACTGTCAGTGCAATGGCCTTAGCTTGGGTTGGGGAGGAGAGAAGAGGGACAACAGCTAGCAGAAGCCCAGAATCCAGGAGAATCCAGCCGAGCAGGCAGGCGCTCCTGGCGGGTGCTGTAAGCTGTTGAGGACATTCTGCTACGGCAGGAGAAAGAGCAAGGGCTCCCTCAGGACCTAGGAGCTGAGATTCTTTCAGGGGTCCAGGAGCCTTCCTCCCCATGCTCCCCACAGGAGATCCCGCTGCGCTCCAACGTGTACGAGGTCTACGCCACGGACAAGGATGAGGGCCTCAACGGGGCGGTGCGCTACAGCTTCCTGAAGACTGCGGGCAACCGGGACTGGGAGTTCTTCATCATCGACCCAATCAGCGGCCTCATCCAGACTGCTCAGCGCCTGGACCGCGAGTCGCAGGCGGTGTACAGCGTAAGGGCGGGGCCCGGTGCGAGGGGCGGGGTCTGGGGCGGGGCTTTCTTCTGGGGGCGGGTCTTGCACCTCGCCTCCTGGAAAGTCCCTAGGGGAACTGGCCACCGGGAAGTCCCCAAGCCAATCCCCTCTCCCAGTCTTTTCCTCTGACTGTGCTCTTCCGCTCCTAGCTCATCTTGGTGGCCAGCGACCTGGGCCAGCCAGTGCCATACGAGACTATGCAGCCGCTGCAGGTGGCCCTGGAGGACATCGATGACAACGAACCCCTTTTCGTGAGGCCTCCAGTGAGCTTGCCCACCTCCTGCGCTGGTCACACCCACACAGGGACTCACCTGCCTGCAAGCACACACTCTCCTATATACACTGTGCCAGAATACACATTTGGCTAGACACGGAAACATGTCTGCATGCACTTCATGCAAGAACAACTATTTATTGAGCAGCTGTGTTACACTATATTGAGCTATATTGAGCGCTGAAAAAAAAAAAGGCAGACCAAAATGCCTGACTCATGGAGCTGATAGCCCTGTCTTTGCCTGCACACACACATACACACACACAAAGCATGAAAATCAGCTCTGATTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCCGTTGCCGAGGCTGGAGTGCAGTGGCATGACCTTGACTCACTGCAACCTCCACCCGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTGTATTTCTAGTAGAGACGGGTTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGCCTTGGCCTCCCAAAATGCTGAGACTACAGGCATAAGCCACTACGCCCCGCCCAGCTCTGATTTATTGATATAGGGCTGACATGAAATCTGACAGCAAGGCTGAGGGCCCCTCCTGTGGACTCCAACTCTGACATGGTTGTTTTTTCTTCTTGTGTGCACATGGGATGTGATGTTCCTTGGCGACTGCTGAGTGTGAGTGCATACACATGCATGTGCATATAAGAGTAACGTGTGTGCTTCTCTCACTTAAGCACTCATTTGGGTTCTGGGCAACACTCCGTGAGGGCAGAGCTCAGGTCCGCGGGCCATGCTTTGCTCCCTTGAGGTTACAACGGTTCTACTCACCCCATAAGGCCTGGACAGTAAACTCCCTCAGCACCTACAAAGTCACTGCCCAGGGCCCTGAAACAGGGACTGGAAGCTCGGGTCTTCCCTTGGCCCCATGTGATGACATCCCCCTCCCTCTGCAGAAAGGCAGCCCCCAGTACCAGCTGCTGACAGTGCCTGAGCACTCACCACGCGGCACCCTCGTGGGCAACGTGACAGGCGCAGTGGATGCAGATGAGGGCCCCAACGCGATCGTGTACTACTTCATCGCAGGTGGGGCCAGACAGAGCTAGTGCCCTGATTACCCTGGGGCTAGAGATGACCCACATATGCCCTGCTCCTGGCCCTGCCCCCTCACCCTGTGCCATGATCCCACCCTCAGCCGGCAACGAAGAGAAGAACTTCCATCTGCAGCCCGATGGGTGTCTGCTGGTGCTGCGGGACCTGGACCGGGAGCGAGAAGCCATCTTCTCCTTCATCGTCAAGGCCTCCAGCAATCGCAGCTGGACACCTCCCCGTGGACCCTCCCCAACCCTCGACCTGGTTGCTGACCTCACACTGCAGGAGGTGCGCGTTGTGCTAGAGGACATCAACGACCAGCCACCACGCTTCACCAAGGCTGAGTACACTGCAGGTGCAGGGACTGGAGCCTGGGCACGAGGTGTGGGGTGGCCCCTGCCCTGCCACTTACACCACCTGCCTCTTCCTGCAGGGGTGGCCACCGACGCCAAGGTGGGCTCAGAGTTGATCCAGGTGCTGGCCCTGGATGCAGACATTGGCAACAACAGCCTTGTCTTCTACAGCATTCTGGCCATCCACTACTTCCGGGCCCTTGCCAACGACTCTGAAGATGTGGGCCAGGTCTTCACCATGGGTAGGGCCTGGCAGCACATGAGTGGC
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TCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGCAAAACAGGACTAATAAGTAAATACTCCATCTCTTGCTCCTAGATGTCTACCAAAAAGGACAGACTCCTCTACAACCCACTTCCCCCATACTTGTCTCAGAATAAACACACACGCCCCTTCCATCTGTCTGTTGTTCCTGCTGATACAGTGTGGAGACAGCCTAGGAGCTGAGGCTGAGCATCAAAATAAGAAATGAGGGGAAGTGGCAAGGTTCTGGAATCTCTCCAGGTCTTCCACTTCTCGGTCTAAATTGCCATATAAAGATAGGGGAAGTATTCCTTTGTCTTCTGCTCTCCCCCTTTCTTCTAAGCACACAGGCCCAAAGTGCTCCGTAGTGGCACCATCAGAATGTCTCCCACTTGTTCTTTGTCCCCCAAACTCCACCCAGGCTCCACATCTCAGAATGTCCATGCTAAGTCCATCATGTCACTCTGTCTCCTCTTTGAGGTCCTGCGGGAGAAAACTCTCCCAAGGCTAAGCTCAAAGAAGCGTTGTGCCTTTACCAGGTGCTTTGCTTTTTTACCTTGTGTCTAGTGTCTCATCGGCAGTGATTGAGCAGTCGGTCCTCTTTGCTCTGCTTTGCTCTTTCAGAGTGATCAGGATATCTCGAGTGACCCTGCAGGGACAGGGCTTACACCTTGCTTCCCACCCCTCAGCTTTCATCTTCCTGACCAATTTTTTTCTTTACTCTAGTTTTTTAACTTGATCAATCTTGTTATAATTTATGTATTCTTGTCCCCTGCATTAAATCTCTTTTGTGGAATGAGGCAGGGTACAAATTAATAATAATCTAGTCCTTTTTCACACCAAAAGCCCCATTTATGAACACTTTCCCTTCAAGGGCTTTGCATTTGGAAAGATTTATGTCTCCTGAACAATCAGCATGTATTAATTATCTATATGTCGTCCTACTTGTTATTAATTAGACGTAACTGCCATTTAGAACTTTCAGTTGTCATGATCCATGAGATAAACAATGAAACCATGCTGAGCTGATCATTTTTCAACTAAAAGCAAAGAAACGTGCCCTTTCTTTTTCCCTGGGCAGCCTTGTCATGGGTCAATGTATGATTTCAATGAGGTTTCGAGATCTTGGACTTAGCTCAACAGCGTTCAGGAGACTGAGGCTCAGGGAAGTGAGGTGGCAAGTCCAGGTTCCAGGCAGGTTAGTAACAGACTAGACCCTGATGGCCAACCCCTATCCTATCCACCATGTCACCCTGCCTGTGTCCCCCCCATTTTCAGGTACCCCATTGGATGGATGGTGTTGTTTGGGGACACCCAGAATTCCTGTGTTTGGGGTAGCAGAGAGAGCAAGACTGATACAGGACGAAGGGTGGCTGTGGCCTCAGCACTTAGATCCCCTCTGTCCCCAAAACCTCAGCATGCAATGAATGGGACTGGAAGGGCGGAGGCAGCTCCTGGGAAGATGGTCACCCTGGGAAGGCTTGAAGCATGTGGTTCTCAGGCTGGACTGTCAGTGCAATGGCCTTAGCTTGGGTTGGGGAGGAGAGAAGAGGGACAACAGCTAGCAGAAGCCCAGAATCCAGGAGAATCCAGCCGAGCAGGCAGGCGCTCCTGGCGGGTGCTGTAAGCTGTTGAGGACATTCTGCTACGGCAGGAGAAAGAGCAAGGGCTCCCTCAGGACCTAGGAGCTGAGATTCTTTCAGGGGTCCAGGAGCCTTCCTCCCCATGCTCCCCACAGGAGATCCCGCTGCGCTCCAACGTGTACGAGGTCTACGCCACGGACAAGGATGAGGGCCTCAACGGGGCGGTGCGCTACAGCTTCCTGAAGACTGCGGGCAACCGGGACTGGGAGTTCTTCATCATCGACCCAATCAGCGGCCTCATCCAGACTGCTCAGCGCCTGGACCGCGAGTCGCAGTCGGTGTACAGCGTAAGGGCGGGGCCCGGTGCGAGGGGCGGGGTCTGGGGCGGGGCTTTCTTCTGGGGGCGGGTCTTGCACCTCGCCTCCTGGAAAGTCCCTAGGGGAACTGGCCACCGGGAAGTCCCCAAGCCAATCCCCTCTCCCAGTCTTTTCCTCTGACTGTGCTCTTCCGCTCCTAGCTCATCTTGGTGGCCAGCGACCTGGGCCAGCCAGTGCCATACGAGACTATGCAGCCGCTGCAGGTGGCCCTGGAGGACATCGATGACAACGAACCCCTTTTCGTGAGGCCTCCAGTGAGCTTGCCCACCTCCTGCGCTGGTCACACCCACACAGGGACTCACCTGCCTGCAAGCACACACTCTCCTATATACACTGTGCCAGAATACACATTTGGCTAGACACGGAAACATGTCTGCATGCACTTCATGCAAGAACAACTATTTATTGAGCAGCTGTGTTACACTATATTGAGCTATATTGAGCGCTGAAAAAAAAAAAGGCAGACCAAAATGCCTGACTCATGGAGCTGATAGCCCTGTCTTTGCCTGCACACACACATACACACACACAAAGCATGAAAATCAGCTCTGATTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCCGTTGCCGAGGCTGGAGTGCAGTGGCATGACCTTGACTCACTGCAACCTCCACCCGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTGTATTTCTAGTAGAGACGGGTTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGCCTTGGCCTCCCAAAATGCTGAGACTACAGGCATAAGCCACTACGCCCCGCCCAGCTCTGATTTATTGATATAGGGCTGACATGAAATCTGACAGCAAGGCTGAGGGCCCCTCCTGTGGACTCCAACTCTGACATGGTTGTTTTTTCTTCTTGTGTGCACATGGGATGTGATGTTCCTTGGCGACTGCTGAGTGTGAGTGCATACACATGCATGTGCATATAAGAGTAACGTGTGTGCTTCTCTCACTTAAGCACTCATTTGGGTTCTGGGCAACACTCCGTGAGGGCAGAGCTCAGGTCCGCGGGCCATGCTTTGCTCCCTTGAGGTTACAACGGTTCTACTCACCCCATAAGGCCTGGACAGTAAACTCCCTCAGCACCTACAAAGTCACTGCCCAGGGCCCTGAAACAGGGACTGGAAGCTCGGGTCTTCCCTTGGCCCCATGTGATGACATCCCCCTCCCTCTGCAGAAAGGCAGCCCCCAGTACCAGCTGCTGACAGTGCCTGAGCACTCACCACGCGGCACCCTCGTGGGCAACGTGACAGGCGCAGTGGATGCAGATGAGGGCCCCAACGCGATCGTGTACTACTTCATCGCAGGTGGGGCCAGACAGAGCTAGTGCCCTGATTACCCTGGGGCTAGAGATGACCCACATATGCCCTGCTCCTGGCCCTGCCCCCTCACCCTGTGCCATGATCCCACCCTCAGCCGGCAACGAAGAGAAGAACTTCCATCTGCAGCCCGATGGGTGTCTGCTGGTGCTGCGGGACCTGGACCGGGAGCGAGAAGCCATCTTCTCCTTCATCGTCAAGGCCTCCAGCAATCGCAGCTGGACACCTCCCCGTGGACCCTCCCCAACCCTCGACCTGGTTGCTGACCTCACACTGCAGGAGGTGCGCGTTGTGCTAGAGGACATCAACGACCAGCCACCACGCTTCACCAAGGCTGAGTACACTGCAGGTGCAGGGACTGGAGCCTGGGCACGAGGTGTGGGGTGGCCCCTGCCCTGCCACTTACACCACCTGCCTCTTCCTGCAGGGGTGGCCACCGACGCCAAGGTGGGCTCAGAGTTGATCCAGGTGCTGGCCCTGGATGCAGACATTGGCAACAACAGCCTTGTCTTCTACAGCATTCTGGCCATCCACTACTTCCGGGCCCTTGCCAACGACTCTGAAGATGTGGGCCAGGTCTTCACCATGGGTAGGGCCTGGCAGCACATGAGTGGC
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Task1_train_14048
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Here is a mutation in CDH23 (cadherin related 23) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Pituitary adenoma 5, multiple types
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CTCATCTAGTTCCATGTGGACAAGAAGGGCCGGGTGAACTTTGCGCAGACAGAACTGCTTATCCACGTGGTGAACCGCGATACCAACCGCATCCTGGACGTGGACCGGTGAGTCGGGGCCTGTGTTTGGACTGTCAGCCTGTCTGTCTGCCTGCCTCCCTGCCCTGGAGTAGGGGAGGGGACACACCAAAGGAGACACAGACCACACCATCAGGCCCACTGTGTGGGGCCATCTCCCAGACTGGGGCAGGGCTAGGAGAGAGAGCAGAGTTTGGGGGTATGAGCAACTCTGTCCCTCTGAGCCTCCCTCTCCCCATCTGTAACATGGGAGTATTCAGGCCATGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGGTGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAATATTAGTTGGCATGGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGTGGAGTTTGCAGTGGGCTGAGATCATGCCACACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGGAGTATTCCATCCACTGTAAGGATGGAACAGGATCCTACATGAAGGTTCGAGGAACCTTGTAAAACACAAAGCTGTCCCAGCCGGTGGACCTCAATCTTGCAAGGCTTGGGGTTGTTGAACTTTGGAGGCTTGAGGCAGGAGCAGAGCAGACTGTCGGTGGTGGGGGAATGGCTGAGGAGGAGAGCTGAGACCCCTGCCCCTCGCCCAGGGTGATCCAGATGATCGATGAGAACAAGGAGCAGCTACGGAATCTTTTCCGGAACTACAACGTCCTGGACGTGCAGCCTGCCATCTCTGTCCGGCTGCCGGATGACATGTCTGCCCTGCAGGTACCCGGCGACCGTGCCCCACAGCCCTAGCCGCCCTCCCCACTGCCCGGGCTTACCCTGGTCCTGCTCCCGCAGATGGCGATCATCGTCCTGGCTATCCTCCTGTTCCTGGCCGCCATGCTCTTTGTCCTCATGAACTGGTACTACAGGACTGTGTGAGTGTCCCCCACCCCTGCCATCAGGGGGCCGACCACCTGCTCCCGGATGGCCACGAGGCAGGCAGGGCCTGAGACGTCAGCTTGGCCCCCCTCACCAGCCCCTCTCTGCTTCTCTCCAGACACAAGAGGAAGCTCAAGGCCATTGTGGCTGGCTCAGCTGGTAAGTGAGGGCCATAGTGGGGACACAGGTGAGAAGGCAGTGGGCTGGGGACCTGGAGTGCCCACCGGAGCCACAAGCCTGGCTCAGGCCCTTCACTGGGCCCAGGACCATGCCCCGCACCCCATCCTCCCTCACCCCCCAACACCACCCCTACCCCTGGCTATGCCCCTCCCCTCCATGCCCCAACCCTTCTCCCTGCAGGGAATCGTGGCTTCATCGACATCATGGACATGCCTAACACCAACAAGTACTCCTTTGATGGGTGAGTGGGGTACTGGCCCTGCCCGGTCCCCTGCGGGGAGTCCTGCCAGGACCCAGCTGGGGAGAGCTGCAGTCTCCCAGCGCTGGGGCTGCCGAAACCCAGGCTGTGGGCGCCCCCTGGTGGGCGGGCCACCCTCCCTTCACCCTCCCTCCACCCTCAGAAACCACGTGGCTGACAGGGGCTCTCCACCCCAGTGGGCCTCAAGTTCCAGGGGATGCAGACTTTGGGCAGTGGGTGCAGGGTGAAGCCTCTGCACCAAAGGCAATCCAGACTGACATGCGGTCCTGGTTCCAGCAGGATCCTATGGTGGGAGCATGCACCACAGGCACCAGGGCCTCACACCCCAAGTCAGTGAAAGGCACTATATGGCCAGGGAAATGGGCAGGATGTGGGGTGAGGCTGGAAGGGCACCTGTCTACTCGAGCCTTCCCTCCCTCCCCACCCTTTTCCCTCCCCAACTGCAGAGCCAACCCTGTGTGGCTGGATCCCTTCTGTCGGAACCTGGAGCTGGCCGCCCAGGCGGAGCATGAGGATGACCTACCGGAGAACCTGAGTGAGATCGCCGACCTGTGGAACAGCCCCACGCGCACCCATGTGAGCCAGAGGCGGTCAGGCATCACAAGGGGCAGGGGTGGAGGGGCTGGGTCTTTGCAACCTCTGGCCAAGAAGCTGGGTTCTTTAAGGGGTGGCCCCCTCCCTTGTACATGTGTGTGGGGTCTGCCTCTGCTCCAGCTAACATCCCCTCTCCCCAGGGAACTTTTGGGCGTGAGCCAGCAGCTGTCAAGCCTGATGATGACCGATACCTGCGGGCTGCCATCCAGGAGTATGACAACATTGCCAAGCTGGGCCAGATCATTCGTGAGGGGCCAATCAAGGTGAGCCTTCCCTGCAGGCTCCGCGCCCAGTCCCTTGGCTGAGGTTGGACCCCACTCCAGAGAACACAGGGTGGTAGAGACCTCCAGGCTCAGCTAGACCCACCCTCCACTGGGGCGAGAACACCAGGGCTGATGGGGGGCTACTCCAGCCTGCGGTGGCCTTAAGGGCAGGGCTCAGGAGTGAGTCCACCTGTGTCCAGGCTGGCCACTGTCTCCAGGCTCTGCCGCTGATCCTCTGCCCTAGGATCACCAGGATCAGATGTCCGTGTACCCCTTACTCCCAGAGGGAGTGGGCGAGGGGCGGGGCAGGCAGGGGAGGGCCTTGGTGGGGGTTAACCCTTTCCCTCCCCCAGGGCTCGCTGCTGAAGGTGGTCCTGGAGGATTACCTGCGGCTCAAAAAGCTCTTTGCACAGCGGATGGTGCAAAAAGCCTCCTCCTGCCACTCCTCCATCTCTGAGGTAGCCGGCTGGGTGGCTGGGAGCTGTGTGCTGTGCCCCAGCCTGGGGATGCTCTCTGTCTCTTGCTGTCCTGCTGTCCTTCTCTATGTCTCTGGAGCTCTGCAGCCAGGACCAAAGACAGCAATGGGTGGGGGCCAGGAAGTCAGACAGCAGGATCTGCTTTCTGGGCTTTTGGGGGCTTTCACAGGAATGGGGTAGTCTCTAAGGCAGTCTTTCTCTGATTAGAGGAAGACCTCAAGAACATACCTTTGGGGGTGATGTCACTTTAAGAAACCCGGCTGGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCAATTGAGGCCAGGAGTTCGAGACCAGTCTGGCCAACGTGGCGAAACCCCATCTGTACTAAAAATACAAAAAATTAGCCGGGCCTGGTGGCGGACGCCTATAATCCCAGCTACTCAGGGGGCTGAGGCAGGAGAATTGCTGGAACCCAGGAGGCGGAGGTTGAAGTGAACCAAGACCATGCCACTGCACTCCATTGGGTGACAGAGTGAGACTTGTCTCAAAAAAAAAGGAAAGAAAAGAAACTGGCCGTCAGGGTCAAATAGGCCTACATATGTTTGCCTGTAATGATTATGTCAACACTTACAAAAGTCAGGCTTTACCTAAAAACGAATCTCCAGCTGGGCCCATATTCTCAACAGGAATAAGCTAGTCGAATAGCCTCATACAGGAGGACAACAGTGCCAGTTTCAAGTCTCCACCCCACCTATTTATCCTCTGCAGCTTGTCCTATTGACACTTTCTGCCTGGACACAATTAGAGGTGATCTGCTTGAGGCCAATTTGGCAACAAACCCAGATACCACAGTTGCATCCCAGGATGTTTATAGAGCACCAAAGTTAATACATAAAATTAAAGATTCTCAGCCAGATGTGGTGGCACACGCCCATAGTCCCAGCTACTCAGGAAACTGAAATGGGAGGATCACTTGAGCCCAGGAGTCCGAGGCTGCACTGAGCTTTGATTACGTTGCTGCATTCCAGCCTGGGCAACAGAGAGAAACCCTGTCTCTAAATAAATAAAGGGCAGGTGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGTGGATCATCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGCGTGCCTGTAATCCCACCTACGTGGGAGGC
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CTCATCTAGTTCCATGTGGACAAGAAGGGCCGGGTGAACTTTGCGCAGACAGAACTGCTTATCCACGTGGTGAACCGCGATACCAACCGCATCCTGGACGTGGACCGGTGAGTCGGGGCCTGTGTTTGGACTGTCAGCCTGTCTGTCTGCCTGCCTCCCTGCCCTGGAGTAGGGGAGGGGACACACCAAAGGAGACACAGACCACACCATCAGGCCCACTGTGTGGGGCCATCTCCCAGACTGGGGCAGGGCTAGGAGAGAGAGCAGAGTTTGGGGGTATGAGCAACTCTGTCCCTCTGAGCCTCCCTCTCCCCATCTGTAACATGGGAGTATTCAGGCCATGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGGTGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAATATTAGTTGGCATGGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGTGGAGTTTGCAGTGGGCTGAGATCATGCCACACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGGAGTATTCCATCCACTGTAAGGATGGAACAGGATCCTACATGAAGGTTCGAGGAACCTTGTAAAACACAAAGCTGTCCCAGCCGGTGGACCTCAATCTTGCAAGGCTTGGGGTTGTTGAACTTTGGAGGCTTGAGGCAGGAGCAGAGCAGACTGTCGGTGGTGGGGGAATGGCTGAGGAGGAGAGCTGAGACCCCTGCCCCTCGCCCAGGGTGATCCAGATGATCGATGAGAACAAGGAGCAGCTACGGAATCTTTTCCGGAACTACAACGTCCTGGACGTGCAGCCTGCCATCTCTGTCCGGCTGCCGGATGACATGTCTGCCCTGCAGGTACCCGGCGACCGTGCCCCACAGCCCTAGCCGCCCTCCCCACTGCCCGGGCTTACCCTGGTCCTGCTCCCGCAGATGGCGATCATCGTCCTGGCTATCCTCCTGTTCCTGGCCGCCATGCTCTTTGTCCTCATGAACTGGTACTACAGGACTGTGTGAGTGTCCCCCACCCCTGCCATCAGGGGGCCGACCACCTGCTCCCGGATGGCCACGAGGCAGGCAGGGCCTGAGACGTCAGCTTGGCCCCCCTCACCAGCCCCTCTCTGCTTCTCTCCAGACACAAGAGGAAGCTCAAGGCCATTGTGGCTGGCTCAGCTGGTAAGTGAGGGCCATAGTGGGGACACAGGTGAGAAGGCAGTGGGCTGGGGACCTGGAGTGCCCACCGGAGCCACAAGCCTGGCTCAGGCCCTTCACTGGGCCCAGGACCATGCCCCGCACCCCATCCTCCCTCACCCCCCAACACCACCCCTACCCCTGGCTATGCCCCTCCCCTCCATGCCCCAACCCTTCTCCCTGCAGGGAATCGTGGCTTCATCGACATCATGGACATGCCTAACACCAACAAGTACTCCTTTGATGGGTGAGTGGGGTACTGGCCCTGCCCGGTCCCCTGCGGGGAGTCCTGCCAGGACCCAGCTGGGGAGAGCTGCAGTCTCCCAGCGCTGGGGCTGCCGAAACCCAGGCTGTGGGCGCCCCCTGGTGGGCGGGCCACCCTCCCTTCACCCTCCCTCCACCCTCAGAAACCACGTGGCTGACAGGGGCTCTCCACCCCAGTGGGCCTCAAGTTCCAGGGGATGCAGACTTTGGGCAGTGGGTGCAGGGTGAAGCCTCTGCACCAAAGGCAATCCAGACTGACATGCGGTCCTGGTTCCAGCAGGATCCTATGGTGGGAGCATGCACCACAGGCACCAGGGCCTCACACCCCAAGTCAGTGAAAGGCACTATATGGCCAGGGAAATGGGCAGGATGTGGGGTGAGGCTGGAAGGGCACCTGTCTACTCGAGCCTTCCCTCCCTCCCCACCCTTTTCCCTCCCCAACTGCAGAGCCAACCCTGTGTGGCTGGATCCCTTCTGTTGGAACCTGGAGCTGGCCGCCCAGGCGGAGCATGAGGATGACCTACCGGAGAACCTGAGTGAGATCGCCGACCTGTGGAACAGCCCCACGCGCACCCATGTGAGCCAGAGGCGGTCAGGCATCACAAGGGGCAGGGGTGGAGGGGCTGGGTCTTTGCAACCTCTGGCCAAGAAGCTGGGTTCTTTAAGGGGTGGCCCCCTCCCTTGTACATGTGTGTGGGGTCTGCCTCTGCTCCAGCTAACATCCCCTCTCCCCAGGGAACTTTTGGGCGTGAGCCAGCAGCTGTCAAGCCTGATGATGACCGATACCTGCGGGCTGCCATCCAGGAGTATGACAACATTGCCAAGCTGGGCCAGATCATTCGTGAGGGGCCAATCAAGGTGAGCCTTCCCTGCAGGCTCCGCGCCCAGTCCCTTGGCTGAGGTTGGACCCCACTCCAGAGAACACAGGGTGGTAGAGACCTCCAGGCTCAGCTAGACCCACCCTCCACTGGGGCGAGAACACCAGGGCTGATGGGGGGCTACTCCAGCCTGCGGTGGCCTTAAGGGCAGGGCTCAGGAGTGAGTCCACCTGTGTCCAGGCTGGCCACTGTCTCCAGGCTCTGCCGCTGATCCTCTGCCCTAGGATCACCAGGATCAGATGTCCGTGTACCCCTTACTCCCAGAGGGAGTGGGCGAGGGGCGGGGCAGGCAGGGGAGGGCCTTGGTGGGGGTTAACCCTTTCCCTCCCCCAGGGCTCGCTGCTGAAGGTGGTCCTGGAGGATTACCTGCGGCTCAAAAAGCTCTTTGCACAGCGGATGGTGCAAAAAGCCTCCTCCTGCCACTCCTCCATCTCTGAGGTAGCCGGCTGGGTGGCTGGGAGCTGTGTGCTGTGCCCCAGCCTGGGGATGCTCTCTGTCTCTTGCTGTCCTGCTGTCCTTCTCTATGTCTCTGGAGCTCTGCAGCCAGGACCAAAGACAGCAATGGGTGGGGGCCAGGAAGTCAGACAGCAGGATCTGCTTTCTGGGCTTTTGGGGGCTTTCACAGGAATGGGGTAGTCTCTAAGGCAGTCTTTCTCTGATTAGAGGAAGACCTCAAGAACATACCTTTGGGGGTGATGTCACTTTAAGAAACCCGGCTGGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCAATTGAGGCCAGGAGTTCGAGACCAGTCTGGCCAACGTGGCGAAACCCCATCTGTACTAAAAATACAAAAAATTAGCCGGGCCTGGTGGCGGACGCCTATAATCCCAGCTACTCAGGGGGCTGAGGCAGGAGAATTGCTGGAACCCAGGAGGCGGAGGTTGAAGTGAACCAAGACCATGCCACTGCACTCCATTGGGTGACAGAGTGAGACTTGTCTCAAAAAAAAAGGAAAGAAAAGAAACTGGCCGTCAGGGTCAAATAGGCCTACATATGTTTGCCTGTAATGATTATGTCAACACTTACAAAAGTCAGGCTTTACCTAAAAACGAATCTCCAGCTGGGCCCATATTCTCAACAGGAATAAGCTAGTCGAATAGCCTCATACAGGAGGACAACAGTGCCAGTTTCAAGTCTCCACCCCACCTATTTATCCTCTGCAGCTTGTCCTATTGACACTTTCTGCCTGGACACAATTAGAGGTGATCTGCTTGAGGCCAATTTGGCAACAAACCCAGATACCACAGTTGCATCCCAGGATGTTTATAGAGCACCAAAGTTAATACATAAAATTAAAGATTCTCAGCCAGATGTGGTGGCACACGCCCATAGTCCCAGCTACTCAGGAAACTGAAATGGGAGGATCACTTGAGCCCAGGAGTCCGAGGCTGCACTGAGCTTTGATTACGTTGCTGCATTCCAGCCTGGGCAACAGAGAGAAACCCTGTCTCTAAATAAATAAAGGGCAGGTGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGTGGATCATCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGCGTGCCTGTAATCCCACCTACGTGGGAGGC
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Task1_train_14049
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Assess the clinical impact of this variant on gene PSAP (prosaposin), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Gaucher disease due to saposin C deficiency
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TTGCAGATGAGTACCCACGCAGGCAGGGCTCAGGACCCTTCATCTACCTGCACCCGGCACCCAGCGTCCTGCTAGCAGCCTGCACACTAACTCCCAGGCAGAACCTCCTTGCCTGAGTTAGGCTACACACCAGCTCGGGCCTTGAGAAGCAGGCCCACATTTCCCCAGGACAGCAGCAGAACCAGCTGTGGGGTGGGGCTGGCGGTGGAGATGGGCTGGAGCCTAGCTGGAGGAAAGAGCTGGACATGGCCAGAATGGGGGCCCCCTGCCCCTCCCTGCAGTGGTCCGAAATGACACAACCGCCACTGACATGGTCACAGGGAAGCCCGGTGAGGAAGGAAAAGTTGCACAAAGCAACATTAAGTAACAGGGACCGAACCAAACATCCCCACCCAGGGAAGCAGCACAAGTCACCCAACTGGTGGCTGCCAGGCCAGGCCAGGGCCACAGTGCCCTAGGGCTGCTGGGCAGGGGCCAGTTCTCAGGGCCTTGAGTGAGGACTCGGGCCCGGCTTCAGCAAGGGCAAACATGTTCCCGGGGGACAGGACCTGGGCAAAGCTCTGGGCAATGAATCCCACAGACCTTGTACAATCCCTGGAGTGACCTTGTACAAGTCTGACACTGTCACAAGGGAAATGAAGACAAAAGCAACAAAGCAGAAGCAAAAAAATACTAAAAAAAATAAATAAATAAAATCCACCCCACCCTTCACTACAAGAGTGTAGTTCACCCTGTCTTTTCTAGGGGACCATGAGTAAGCCTAACCACCTCTCTGGGCCTCAGCTTTCTGATAACATAAAAGCAGGGTGGAGAGTTGATCACTGGGTTCCCATTAAAGCAGGATTCTCACACAGGCTACCCCAGGGCAAGACAGGCTGGTGACACTGTCTGCTGAGCTACTCACATTGCACTGGGCTGCTGTCTCTGTGTTCTGGCACCAGTAGCTTGGGCCCCATATACACTTCTCAGTTCCCAACAAGGGCTTATGGGCCGAGGGGCAGGCTCCAATTTTCTATATGGTGAGAAAAGGAAAGAAGAAAGGGGGAGAATGAGAGCTGCCCGATGTATCGCTTTCAAAACTAAGAAAACAGTTTCCAGAAGGAGCTAGGATCACAGCTCCACCACGCTCTTTCAGAACATCAGGGTTGCTGAGGAAAGCGATGGGGCTTGGGGGGCTGGCTCCCTACCTTCTTGGCTCTCCCGCAGCAGAACCCAGAGACTCCACCCCACGGCCAAGTCTCAGAGCAACCCTTCCGGGTCTCTGCAGCCCCCCAGGTTACAGCTGCCCGAGAGGACCACACCACCCAGTGAGGCTCACCAAGCACACGAAGGAAGGATCCATCACCTCCACCAGGATCTCGATCAGCACGGGCTCGTACTCTGCCACAAACTGATCACACTATAAAGGAAAGTGGGGACACAGGTCCAGCTCTGGGGGTGTCCGAGCATAGTGGGGCACAAAAGGCCAGGCAGGCCCTGGATACACTGTTCCCTGAGAGCTCCTGGCATTCCCAGCCCACTGGGTCCTGGGGCCTCCCTTTCCAGACACCCTATCTACATTTGGCCTCTCTACTTCAGGTTGCTTCCCCCAGTGGCTCATCTTAAGCCAACAAATCACCTCCAAGTAAAACTTCATTGGACTCCATGCCCGGAGGCAGAAACAGCTGGTTTTCCATCAAAATGTACCCCAGCCTTGGCATACTTCATCAGGTTCTGCCATGCTGGCCTACCGCAGCCCAGCCCGGGGCGTACCTGCTTCTGGTAAGGGTCTGGCAGGAAGCTGCAGCCTTTCTCAAGAGCAGCCAGGATCTCCTGCTTGGTGCTGTTTTTCTCCAGGTTGCGATCCAAATAACCCACCAGCTTCTTGCACACTTCGCAGAAGCCACCGTCCTTTGGCTGAGTCACGTGAACTACATAAGAGGGCAGCGGGCTCAACGCTGGCAGGGCCCTCCCAGACCCAAGAGGGGCACCATCCTCTCCCGCACCACACCCAGCGCTCACCGGTCAGTGCAGGCAGCCGCGTGCCAGAGCAGAGGTGCAGCATGCTGCACACCAGCTCAGGGCTGACCTCCTCCAGCAGGATGGACAGGATGGAGCTGCCGTACGTGTCCACCACCTCCTGGCACTCTTCCGACAGGGACTTCGGCAGCTTCGAGCACATTTTGTCAAAAGCGTCGAGTATTTCTTTCTGAAACACACGAGAGGATCGTGTGAGAAGACGGGAGGCCGGACAAGGGTTGGGGGACATTCTGAAAATACTAACATGGCCAGGAAATGAGTCAATGGTGGGTGCCGTTTCCACCCACAAAAAACTACCAAACTACAAAGCAGGGCAATGGTGTCCACCTCCCCGGACCCCCGCCAGCCTAGAGGTCCCACTGGTGAGGATTGCCTTCCACGAGATGGGGACATGGCTGTACACATGTCAAGGCTGGGCCAAGCCCTCTCTCCTGTGGGACTTTCCCACTGGGACATTCAGGCTCGGGGGGGCAGGAGAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCGTGCTTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACTCACAGCCCTTGGTCTTGCTCCCCTAAAGGAAAGGGGACACAGAGACCAGGGTGGGTTAGCACATCAAGGGCCACTGCCTCCTGAATTCCAAATGGCGTGTGGCTTCTAATATCCAAGTTAATTCCCTATTTTTACATTCACCCCCTTCCCCAATCCTCTACCACCCCCACCTCCCCCTAACCCCACCAAAACAAAACCCAGGAATTCACAGTTCAGGAGACAGAAAGTCCCTTCCCCACCCCGAAGAGCTGTCCTGATGATGTGTTCGGTTACAATCATTTCATCATTCAGGGTTCATTTTGGGGAGGAGGATGAAGGACCAAAAGCAAAGTGAGGGGCTCACTATCGGTCCACTATCTAGAAGACAGAATGTTGAACACACTTCAGGTCTGCTCGTGTGTCTCCCATGTCTCATTAGCACTTGAGAATGCTCTTCTGGAACCCACCTTTAATAAGGCAATACTGTTACAGAGGATGTTCTGTGGCAATGGAAATGTTCTCTATCTCTGCTGTCCACTATAAGCTCCAGCTACCTGTGCACTGAGCACCTGCAATGTGGCTGGTGTAGCCAAGGGGCTGAATTTTTAATTTTGCTCCATGGTATTTCATTAAAATTTAAGTAGTCACATGTGGTTGGAGTGCGAGCTATAACTCTTCACTTTCTCTGGCCGTCACTTTGGTCAGCAGGCTGGAGCTGAGGAGCACCCGGTGGAGAGGAAGGCAAGAAGCAGTGCTTCCTGGATTCCAGCTGACACTTCGGCCTGGCCCCTGGGTCACACACTCTGCACATGCAGAGAGGAGACAGCAGAGAGAGACCAACAGCTGGCAGTCAAGTGCCGTGGGATGTTCTAGAACAAGAAGCGTGTACATGTGCCACGTGTTAAGGCATCACACAGCCCAGGCCTTGAAGAACTAGAATGTAAGCCCCACGGGCACAATGACATCATCTGTTCACCACAGCCCCTAACATGCTGCCTGACCCATAATAAATGCCAAATACAAATTTATTATGGGATGAAGTAGTCTAATCTTCACCAAGTGAGGTGTTTTAGTTAAATAAAATAGACACCCACATGTACTTAGTATACAGGCTGCAGGCCCAGTGAGGCTTCCGTACACTCTGAGGGGTGTGCTGGGAACATCCAGTCTGTCAGGGCCACAGGATGGGGAAGGACCCAGACAGTGCATGTGAGAAGGTGAGGCTGAAGCCAGGCACTGCAAAGTCACCTTTGAATGGCATGCTGAAAATACACAGGCTAATGATCCCACGAACATTAGGGTTTACAACCAAGGAAATAAAATGTTTTCAAAAGAACTCAGGGTCGGGGGCTGCATTAGTATAGGGGATAGGATAAACCAGTGATCACAAACTCAAAGACCTTTAGGAGCCAGGCAGGGAACCGAAAGAAACAAGTGACTCGTAAGATGTGA
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TTGCAGATGAGTACCCACGCAGGCAGGGCTCAGGACCCTTCATCTACCTGCACCCGGCACCCAGCGTCCTGCTAGCAGCCTGCACACTAACTCCCAGGCAGAACCTCCTTGCCTGAGTTAGGCTACACACCAGCTCGGGCCTTGAGAAGCAGGCCCACATTTCCCCAGGACAGCAGCAGAACCAGCTGTGGGGTGGGGCTGGCGGTGGAGATGGGCTGGAGCCTAGCTGGAGGAAAGAGCTGGACATGGCCAGAATGGGGGCCCCCTGCCCCTCCCTGCAGTGGTCCGAAATGACACAACCGCCACTGACATGGTCACAGGGAAGCCCGGTGAGGAAGGAAAAGTTGCACAAAGCAACATTAAGTAACAGGGACCGAACCAAACATCCCCACCCAGGGAAGCAGCACAAGTCACCCAACTGGTGGCTGCCAGGCCAGGCCAGGGCCACAGTGCCCTAGGGCTGCTGGGCAGGGGCCAGTTCTCAGGGCCTTGAGTGAGGACTCGGGCCCGGCTTCAGCAAGGGCAAACATGTTCCCGGGGGACAGGACCTGGGCAAAGCTCTGGGCAATGAATCCCACAGACCTTGTACAATCCCTGGAGTGACCTTGTACAAGTCTGACACTGTCACAAGGGAAATGAAGACAAAAGCAACAAAGCAGAAGCAAAAAAATACTAAAAAAAATAAATAAATAAAATCCACCCCACCCTTCACTACAAGAGTGTAGTTCACCCTGTCTTTTCTAGGGGACCATGAGTAAGCCTAACCACCTCTCTGGGCCTCAGCTTTCTGATAACATAAAAGCAGGGTGGAGAGTTGATCACTGGGTTCCCATTAAAGCAGGATTCTCACACAGGCTACCCCAGGGCAAGACAGGCTGGTGACACTGTCTGCTGAGCTACTCACATTGCACTGGGCTGCTGTCTCTGTGTTCTGGCACCAGTAGCTTGGGCCCCATATACACTTCTCAGTTCCCAACAAGGGCTTATGGGCCGAGGGGCAGGCTCCAATTTTCTATATGGTGAGAAAAGGAAAGAAGAAAGGGGGAGAATGAGAGCTGCCCGATGTATCGCTTTCAAAACTAAGAAAACAGTTTCCAGAAGGAGCTAGGATCACAGCTCCACCACGCTCTTTCAGAACATCAGGGTTGCTGAGGAAAGCGATGGGGCTTGGGGGGCTGGCTCCCTACCTTCTTGGCTCTCCCGCAGCAGAACCCAGAGACTCCACCCCACGGCCAAGTCTCAGAGCAACCCTTCCGGGTCTCTGCAGCCCCCCAGGTTACAGCTGCCCGAGAGGACCACACCACCCAGTGAGGCTCACCAAGCACACGAAGGAAGGATCCATCACCTCCACCAGGATCTCGATCAGCACGGGCTCGTACTCTGCCACAAACTGATCACACTATAAAGGAAAGTGGGGACACAGGTCCAGCTCTGGGGGTGTCCGAGCATAGTGGGGCACAAAAGGCCAGGCAGGCCCTGGATACACTGTTCCCTGAGAGCTCCTGGCATTCCCAGCCCACTGGGTCCTGGGGCCTCCCTTTCCAGACACCCTATCTACATTTGGCCTCTCTACTTCAGGTTGCTTCCCCCAGTGGCTCATCTTAAGCCAACAAATCACCTCCAAGTAAAACTTCATTGGACTCCATGCCCGGAGGCAGAAACAGCTGGTTTTCCATCAAAATGTACCCCAGCCTTGGCATACTTCATCAGGTTCTGCCATGCTGGCCTACCGCAGCCCAGCCCGGGGCGTACCTGCTTCTGGTAAGGGTCTGGCAGGAAGCTGCAGCCTTTCTCAAGAGCAGCCAGGATCTCCTGCTTGGTGCTGTTTTTCTCCAGGTTGCGATCCAAATAACCCACCAGCTTCTTGCACACTTCGCAGAAGCCACCGTCCTTTGGCTGAGTCACGTGAACTACATAAGAGGGCAGCGGGCTCAACGCTGGCAGGGCCCTCCCAGACCCAAGAGGGGCACCATCCTCTCCCGCACCACACCCAGCGCTCACCGGTCAGTGCAGGCAGCCGCGTGCCAGAGCAGAGGTGCAGCATGCTGAACACCAGCTCAGGGCTGACCTCCTCCAGCAGGATGGACAGGATGGAGCTGCCGTACGTGTCCACCACCTCCTGGCACTCTTCCGACAGGGACTTCGGCAGCTTCGAGCACATTTTGTCAAAAGCGTCGAGTATTTCTTTCTGAAACACACGAGAGGATCGTGTGAGAAGACGGGAGGCCGGACAAGGGTTGGGGGACATTCTGAAAATACTAACATGGCCAGGAAATGAGTCAATGGTGGGTGCCGTTTCCACCCACAAAAAACTACCAAACTACAAAGCAGGGCAATGGTGTCCACCTCCCCGGACCCCCGCCAGCCTAGAGGTCCCACTGGTGAGGATTGCCTTCCACGAGATGGGGACATGGCTGTACACATGTCAAGGCTGGGCCAAGCCCTCTCTCCTGTGGGACTTTCCCACTGGGACATTCAGGCTCGGGGGGGCAGGAGAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCGTGCTTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACTCACAGCCCTTGGTCTTGCTCCCCTAAAGGAAAGGGGACACAGAGACCAGGGTGGGTTAGCACATCAAGGGCCACTGCCTCCTGAATTCCAAATGGCGTGTGGCTTCTAATATCCAAGTTAATTCCCTATTTTTACATTCACCCCCTTCCCCAATCCTCTACCACCCCCACCTCCCCCTAACCCCACCAAAACAAAACCCAGGAATTCACAGTTCAGGAGACAGAAAGTCCCTTCCCCACCCCGAAGAGCTGTCCTGATGATGTGTTCGGTTACAATCATTTCATCATTCAGGGTTCATTTTGGGGAGGAGGATGAAGGACCAAAAGCAAAGTGAGGGGCTCACTATCGGTCCACTATCTAGAAGACAGAATGTTGAACACACTTCAGGTCTGCTCGTGTGTCTCCCATGTCTCATTAGCACTTGAGAATGCTCTTCTGGAACCCACCTTTAATAAGGCAATACTGTTACAGAGGATGTTCTGTGGCAATGGAAATGTTCTCTATCTCTGCTGTCCACTATAAGCTCCAGCTACCTGTGCACTGAGCACCTGCAATGTGGCTGGTGTAGCCAAGGGGCTGAATTTTTAATTTTGCTCCATGGTATTTCATTAAAATTTAAGTAGTCACATGTGGTTGGAGTGCGAGCTATAACTCTTCACTTTCTCTGGCCGTCACTTTGGTCAGCAGGCTGGAGCTGAGGAGCACCCGGTGGAGAGGAAGGCAAGAAGCAGTGCTTCCTGGATTCCAGCTGACACTTCGGCCTGGCCCCTGGGTCACACACTCTGCACATGCAGAGAGGAGACAGCAGAGAGAGACCAACAGCTGGCAGTCAAGTGCCGTGGGATGTTCTAGAACAAGAAGCGTGTACATGTGCCACGTGTTAAGGCATCACACAGCCCAGGCCTTGAAGAACTAGAATGTAAGCCCCACGGGCACAATGACATCATCTGTTCACCACAGCCCCTAACATGCTGCCTGACCCATAATAAATGCCAAATACAAATTTATTATGGGATGAAGTAGTCTAATCTTCACCAAGTGAGGTGTTTTAGTTAAATAAAATAGACACCCACATGTACTTAGTATACAGGCTGCAGGCCCAGTGAGGCTTCCGTACACTCTGAGGGGTGTGCTGGGAACATCCAGTCTGTCAGGGCCACAGGATGGGGAAGGACCCAGACAGTGCATGTGAGAAGGTGAGGCTGAAGCCAGGCACTGCAAAGTCACCTTTGAATGGCATGCTGAAAATACACAGGCTAATGATCCCACGAACATTAGGGTTTACAACCAAGGAAATAAAATGTTTTCAAAAGAACTCAGGGTCGGGGGCTGCATTAGTATAGGGGATAGGATAAACCAGTGATCACAAACTCAAAGACCTTTAGGAGCCAGGCAGGGAACCGAAAGAAACAAGTGACTCGTAAGATGTGA
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Task1_train_14050
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This alteration in PSAP (prosaposin) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Gaucher disease due to saposin C deficiency
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TGCAGATGAGTACCCACGCAGGCAGGGCTCAGGACCCTTCATCTACCTGCACCCGGCACCCAGCGTCCTGCTAGCAGCCTGCACACTAACTCCCAGGCAGAACCTCCTTGCCTGAGTTAGGCTACACACCAGCTCGGGCCTTGAGAAGCAGGCCCACATTTCCCCAGGACAGCAGCAGAACCAGCTGTGGGGTGGGGCTGGCGGTGGAGATGGGCTGGAGCCTAGCTGGAGGAAAGAGCTGGACATGGCCAGAATGGGGGCCCCCTGCCCCTCCCTGCAGTGGTCCGAAATGACACAACCGCCACTGACATGGTCACAGGGAAGCCCGGTGAGGAAGGAAAAGTTGCACAAAGCAACATTAAGTAACAGGGACCGAACCAAACATCCCCACCCAGGGAAGCAGCACAAGTCACCCAACTGGTGGCTGCCAGGCCAGGCCAGGGCCACAGTGCCCTAGGGCTGCTGGGCAGGGGCCAGTTCTCAGGGCCTTGAGTGAGGACTCGGGCCCGGCTTCAGCAAGGGCAAACATGTTCCCGGGGGACAGGACCTGGGCAAAGCTCTGGGCAATGAATCCCACAGACCTTGTACAATCCCTGGAGTGACCTTGTACAAGTCTGACACTGTCACAAGGGAAATGAAGACAAAAGCAACAAAGCAGAAGCAAAAAAATACTAAAAAAAATAAATAAATAAAATCCACCCCACCCTTCACTACAAGAGTGTAGTTCACCCTGTCTTTTCTAGGGGACCATGAGTAAGCCTAACCACCTCTCTGGGCCTCAGCTTTCTGATAACATAAAAGCAGGGTGGAGAGTTGATCACTGGGTTCCCATTAAAGCAGGATTCTCACACAGGCTACCCCAGGGCAAGACAGGCTGGTGACACTGTCTGCTGAGCTACTCACATTGCACTGGGCTGCTGTCTCTGTGTTCTGGCACCAGTAGCTTGGGCCCCATATACACTTCTCAGTTCCCAACAAGGGCTTATGGGCCGAGGGGCAGGCTCCAATTTTCTATATGGTGAGAAAAGGAAAGAAGAAAGGGGGAGAATGAGAGCTGCCCGATGTATCGCTTTCAAAACTAAGAAAACAGTTTCCAGAAGGAGCTAGGATCACAGCTCCACCACGCTCTTTCAGAACATCAGGGTTGCTGAGGAAAGCGATGGGGCTTGGGGGGCTGGCTCCCTACCTTCTTGGCTCTCCCGCAGCAGAACCCAGAGACTCCACCCCACGGCCAAGTCTCAGAGCAACCCTTCCGGGTCTCTGCAGCCCCCCAGGTTACAGCTGCCCGAGAGGACCACACCACCCAGTGAGGCTCACCAAGCACACGAAGGAAGGATCCATCACCTCCACCAGGATCTCGATCAGCACGGGCTCGTACTCTGCCACAAACTGATCACACTATAAAGGAAAGTGGGGACACAGGTCCAGCTCTGGGGGTGTCCGAGCATAGTGGGGCACAAAAGGCCAGGCAGGCCCTGGATACACTGTTCCCTGAGAGCTCCTGGCATTCCCAGCCCACTGGGTCCTGGGGCCTCCCTTTCCAGACACCCTATCTACATTTGGCCTCTCTACTTCAGGTTGCTTCCCCCAGTGGCTCATCTTAAGCCAACAAATCACCTCCAAGTAAAACTTCATTGGACTCCATGCCCGGAGGCAGAAACAGCTGGTTTTCCATCAAAATGTACCCCAGCCTTGGCATACTTCATCAGGTTCTGCCATGCTGGCCTACCGCAGCCCAGCCCGGGGCGTACCTGCTTCTGGTAAGGGTCTGGCAGGAAGCTGCAGCCTTTCTCAAGAGCAGCCAGGATCTCCTGCTTGGTGCTGTTTTTCTCCAGGTTGCGATCCAAATAACCCACCAGCTTCTTGCACACTTCGCAGAAGCCACCGTCCTTTGGCTGAGTCACGTGAACTACATAAGAGGGCAGCGGGCTCAACGCTGGCAGGGCCCTCCCAGACCCAAGAGGGGCACCATCCTCTCCCGCACCACACCCAGCGCTCACCGGTCAGTGCAGGCAGCCGCGTGCCAGAGCAGAGGTGCAGCATGCTGCACACCAGCTCAGGGCTGACCTCCTCCAGCAGGATGGACAGGATGGAGCTGCCGTACGTGTCCACCACCTCCTGGCACTCTTCCGACAGGGACTTCGGCAGCTTCGAGCACATTTTGTCAAAAGCGTCGAGTATTTCTTTCTGAAACACACGAGAGGATCGTGTGAGAAGACGGGAGGCCGGACAAGGGTTGGGGGACATTCTGAAAATACTAACATGGCCAGGAAATGAGTCAATGGTGGGTGCCGTTTCCACCCACAAAAAACTACCAAACTACAAAGCAGGGCAATGGTGTCCACCTCCCCGGACCCCCGCCAGCCTAGAGGTCCCACTGGTGAGGATTGCCTTCCACGAGATGGGGACATGGCTGTACACATGTCAAGGCTGGGCCAAGCCCTCTCTCCTGTGGGACTTTCCCACTGGGACATTCAGGCTCGGGGGGGCAGGAGAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCGTGCTTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACTCACAGCCCTTGGTCTTGCTCCCCTAAAGGAAAGGGGACACAGAGACCAGGGTGGGTTAGCACATCAAGGGCCACTGCCTCCTGAATTCCAAATGGCGTGTGGCTTCTAATATCCAAGTTAATTCCCTATTTTTACATTCACCCCCTTCCCCAATCCTCTACCACCCCCACCTCCCCCTAACCCCACCAAAACAAAACCCAGGAATTCACAGTTCAGGAGACAGAAAGTCCCTTCCCCACCCCGAAGAGCTGTCCTGATGATGTGTTCGGTTACAATCATTTCATCATTCAGGGTTCATTTTGGGGAGGAGGATGAAGGACCAAAAGCAAAGTGAGGGGCTCACTATCGGTCCACTATCTAGAAGACAGAATGTTGAACACACTTCAGGTCTGCTCGTGTGTCTCCCATGTCTCATTAGCACTTGAGAATGCTCTTCTGGAACCCACCTTTAATAAGGCAATACTGTTACAGAGGATGTTCTGTGGCAATGGAAATGTTCTCTATCTCTGCTGTCCACTATAAGCTCCAGCTACCTGTGCACTGAGCACCTGCAATGTGGCTGGTGTAGCCAAGGGGCTGAATTTTTAATTTTGCTCCATGGTATTTCATTAAAATTTAAGTAGTCACATGTGGTTGGAGTGCGAGCTATAACTCTTCACTTTCTCTGGCCGTCACTTTGGTCAGCAGGCTGGAGCTGAGGAGCACCCGGTGGAGAGGAAGGCAAGAAGCAGTGCTTCCTGGATTCCAGCTGACACTTCGGCCTGGCCCCTGGGTCACACACTCTGCACATGCAGAGAGGAGACAGCAGAGAGAGACCAACAGCTGGCAGTCAAGTGCCGTGGGATGTTCTAGAACAAGAAGCGTGTACATGTGCCACGTGTTAAGGCATCACACAGCCCAGGCCTTGAAGAACTAGAATGTAAGCCCCACGGGCACAATGACATCATCTGTTCACCACAGCCCCTAACATGCTGCCTGACCCATAATAAATGCCAAATACAAATTTATTATGGGATGAAGTAGTCTAATCTTCACCAAGTGAGGTGTTTTAGTTAAATAAAATAGACACCCACATGTACTTAGTATACAGGCTGCAGGCCCAGTGAGGCTTCCGTACACTCTGAGGGGTGTGCTGGGAACATCCAGTCTGTCAGGGCCACAGGATGGGGAAGGACCCAGACAGTGCATGTGAGAAGGTGAGGCTGAAGCCAGGCACTGCAAAGTCACCTTTGAATGGCATGCTGAAAATACACAGGCTAATGATCCCACGAACATTAGGGTTTACAACCAAGGAAATAAAATGTTTTCAAAAGAACTCAGGGTCGGGGGCTGCATTAGTATAGGGGATAGGATAAACCAGTGATCACAAACTCAAAGACCTTTAGGAGCCAGGCAGGGAACCGAAAGAAACAAGTGACTCGTAAGATGTGAT
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TGCAGATGAGTACCCACGCAGGCAGGGCTCAGGACCCTTCATCTACCTGCACCCGGCACCCAGCGTCCTGCTAGCAGCCTGCACACTAACTCCCAGGCAGAACCTCCTTGCCTGAGTTAGGCTACACACCAGCTCGGGCCTTGAGAAGCAGGCCCACATTTCCCCAGGACAGCAGCAGAACCAGCTGTGGGGTGGGGCTGGCGGTGGAGATGGGCTGGAGCCTAGCTGGAGGAAAGAGCTGGACATGGCCAGAATGGGGGCCCCCTGCCCCTCCCTGCAGTGGTCCGAAATGACACAACCGCCACTGACATGGTCACAGGGAAGCCCGGTGAGGAAGGAAAAGTTGCACAAAGCAACATTAAGTAACAGGGACCGAACCAAACATCCCCACCCAGGGAAGCAGCACAAGTCACCCAACTGGTGGCTGCCAGGCCAGGCCAGGGCCACAGTGCCCTAGGGCTGCTGGGCAGGGGCCAGTTCTCAGGGCCTTGAGTGAGGACTCGGGCCCGGCTTCAGCAAGGGCAAACATGTTCCCGGGGGACAGGACCTGGGCAAAGCTCTGGGCAATGAATCCCACAGACCTTGTACAATCCCTGGAGTGACCTTGTACAAGTCTGACACTGTCACAAGGGAAATGAAGACAAAAGCAACAAAGCAGAAGCAAAAAAATACTAAAAAAAATAAATAAATAAAATCCACCCCACCCTTCACTACAAGAGTGTAGTTCACCCTGTCTTTTCTAGGGGACCATGAGTAAGCCTAACCACCTCTCTGGGCCTCAGCTTTCTGATAACATAAAAGCAGGGTGGAGAGTTGATCACTGGGTTCCCATTAAAGCAGGATTCTCACACAGGCTACCCCAGGGCAAGACAGGCTGGTGACACTGTCTGCTGAGCTACTCACATTGCACTGGGCTGCTGTCTCTGTGTTCTGGCACCAGTAGCTTGGGCCCCATATACACTTCTCAGTTCCCAACAAGGGCTTATGGGCCGAGGGGCAGGCTCCAATTTTCTATATGGTGAGAAAAGGAAAGAAGAAAGGGGGAGAATGAGAGCTGCCCGATGTATCGCTTTCAAAACTAAGAAAACAGTTTCCAGAAGGAGCTAGGATCACAGCTCCACCACGCTCTTTCAGAACATCAGGGTTGCTGAGGAAAGCGATGGGGCTTGGGGGGCTGGCTCCCTACCTTCTTGGCTCTCCCGCAGCAGAACCCAGAGACTCCACCCCACGGCCAAGTCTCAGAGCAACCCTTCCGGGTCTCTGCAGCCCCCCAGGTTACAGCTGCCCGAGAGGACCACACCACCCAGTGAGGCTCACCAAGCACACGAAGGAAGGATCCATCACCTCCACCAGGATCTCGATCAGCACGGGCTCGTACTCTGCCACAAACTGATCACACTATAAAGGAAAGTGGGGACACAGGTCCAGCTCTGGGGGTGTCCGAGCATAGTGGGGCACAAAAGGCCAGGCAGGCCCTGGATACACTGTTCCCTGAGAGCTCCTGGCATTCCCAGCCCACTGGGTCCTGGGGCCTCCCTTTCCAGACACCCTATCTACATTTGGCCTCTCTACTTCAGGTTGCTTCCCCCAGTGGCTCATCTTAAGCCAACAAATCACCTCCAAGTAAAACTTCATTGGACTCCATGCCCGGAGGCAGAAACAGCTGGTTTTCCATCAAAATGTACCCCAGCCTTGGCATACTTCATCAGGTTCTGCCATGCTGGCCTACCGCAGCCCAGCCCGGGGCGTACCTGCTTCTGGTAAGGGTCTGGCAGGAAGCTGCAGCCTTTCTCAAGAGCAGCCAGGATCTCCTGCTTGGTGCTGTTTTTCTCCAGGTTGCGATCCAAATAACCCACCAGCTTCTTGCACACTTCGCAGAAGCCACCGTCCTTTGGCTGAGTCACGTGAACTACATAAGAGGGCAGCGGGCTCAACGCTGGCAGGGCCCTCCCAGACCCAAGAGGGGCACCATCCTCTCCCGCACCACACCCAGCGCTCACCGGTCAGTGCAGGCAGCCGCGTGCCAGAGCAGAGGTGCAGCATGCTGCCCACCAGCTCAGGGCTGACCTCCTCCAGCAGGATGGACAGGATGGAGCTGCCGTACGTGTCCACCACCTCCTGGCACTCTTCCGACAGGGACTTCGGCAGCTTCGAGCACATTTTGTCAAAAGCGTCGAGTATTTCTTTCTGAAACACACGAGAGGATCGTGTGAGAAGACGGGAGGCCGGACAAGGGTTGGGGGACATTCTGAAAATACTAACATGGCCAGGAAATGAGTCAATGGTGGGTGCCGTTTCCACCCACAAAAAACTACCAAACTACAAAGCAGGGCAATGGTGTCCACCTCCCCGGACCCCCGCCAGCCTAGAGGTCCCACTGGTGAGGATTGCCTTCCACGAGATGGGGACATGGCTGTACACATGTCAAGGCTGGGCCAAGCCCTCTCTCCTGTGGGACTTTCCCACTGGGACATTCAGGCTCGGGGGGGCAGGAGAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCGTGCTTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACTCACAGCCCTTGGTCTTGCTCCCCTAAAGGAAAGGGGACACAGAGACCAGGGTGGGTTAGCACATCAAGGGCCACTGCCTCCTGAATTCCAAATGGCGTGTGGCTTCTAATATCCAAGTTAATTCCCTATTTTTACATTCACCCCCTTCCCCAATCCTCTACCACCCCCACCTCCCCCTAACCCCACCAAAACAAAACCCAGGAATTCACAGTTCAGGAGACAGAAAGTCCCTTCCCCACCCCGAAGAGCTGTCCTGATGATGTGTTCGGTTACAATCATTTCATCATTCAGGGTTCATTTTGGGGAGGAGGATGAAGGACCAAAAGCAAAGTGAGGGGCTCACTATCGGTCCACTATCTAGAAGACAGAATGTTGAACACACTTCAGGTCTGCTCGTGTGTCTCCCATGTCTCATTAGCACTTGAGAATGCTCTTCTGGAACCCACCTTTAATAAGGCAATACTGTTACAGAGGATGTTCTGTGGCAATGGAAATGTTCTCTATCTCTGCTGTCCACTATAAGCTCCAGCTACCTGTGCACTGAGCACCTGCAATGTGGCTGGTGTAGCCAAGGGGCTGAATTTTTAATTTTGCTCCATGGTATTTCATTAAAATTTAAGTAGTCACATGTGGTTGGAGTGCGAGCTATAACTCTTCACTTTCTCTGGCCGTCACTTTGGTCAGCAGGCTGGAGCTGAGGAGCACCCGGTGGAGAGGAAGGCAAGAAGCAGTGCTTCCTGGATTCCAGCTGACACTTCGGCCTGGCCCCTGGGTCACACACTCTGCACATGCAGAGAGGAGACAGCAGAGAGAGACCAACAGCTGGCAGTCAAGTGCCGTGGGATGTTCTAGAACAAGAAGCGTGTACATGTGCCACGTGTTAAGGCATCACACAGCCCAGGCCTTGAAGAACTAGAATGTAAGCCCCACGGGCACAATGACATCATCTGTTCACCACAGCCCCTAACATGCTGCCTGACCCATAATAAATGCCAAATACAAATTTATTATGGGATGAAGTAGTCTAATCTTCACCAAGTGAGGTGTTTTAGTTAAATAAAATAGACACCCACATGTACTTAGTATACAGGCTGCAGGCCCAGTGAGGCTTCCGTACACTCTGAGGGGTGTGCTGGGAACATCCAGTCTGTCAGGGCCACAGGATGGGGAAGGACCCAGACAGTGCATGTGAGAAGGTGAGGCTGAAGCCAGGCACTGCAAAGTCACCTTTGAATGGCATGCTGAAAATACACAGGCTAATGATCCCACGAACATTAGGGTTTACAACCAAGGAAATAAAATGTTTTCAAAAGAACTCAGGGTCGGGGGCTGCATTAGTATAGGGGATAGGATAAACCAGTGATCACAAACTCAAAGACCTTTAGGAGCCAGGCAGGGAACCGAAAGAAACAAGTGACTCGTAAGATGTGAT
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Task1_train_14051
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The gene PSAP (prosaposin), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Combined PSAP deficiency
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GGAAGCAGCAGACCACTACTGCAAGCAGATTCCCCGACACATACCTGATCCTGCTGTTGAACAAAAAAACAGGAAATCGGAGGTGAAAATAAGAGAAAGGAAAGGACACAACAGTTAAGAAAAATTAAAACAACAATCAAGCAGTTAACCAGGTGTAAGGATGTCCCAAGAGGTTCAGGGGAAATGCTCTTGCAATCAGATCTTAGCAACCTACCTTGTTCCTGCTATCTTGCGGACAAGGGGGCCCTGAAAGCTTTCCTGGCCCTGCAGGGATAGACCATTTGGGGGCTGTCCTGCTCTGTGTGCACCATCTCCAGGTCTTACACACTAAATCACACTCAAAACACTGTGTAGCAAGAGCCCCAGAAAATGCTTGATGAAGGGTCTCCATACTCAGGAGCCCACACTGGCCCCGGGCCCACAAGGCTTTCCCACAGGTTAGTGACCAGCAGCACCACAGAACAAGACACAGGGCTGCCCAAGTAAGGGGGGTAAGGGATCCCTGAGGGGTAAGGGATCCTAGGGCAATCTACTGCAGGTGGCCAAATGGCAGCCTGGAAGGCCAATTTAACAATGTATCCAAAGCCTCATGCTTCCATTCAGCAGTTCCAGCTTTAGTTCTCTATAATAAGGGGAAAGGCAGGGATATGCATATATGTATGCATTTGGCTATAAGGATATTCATCTTCCCAAAGGCAAACCTGAAAACAACCTAGATACATCCGGCCACCGGGGACCAATTATGTAAATTCTCTTCTATGTACACAGGTGATTATTCTGCAAGCATTTAGTCATTTGTACAAGAATATTCAATGGCCAACATATTTTTAGGCAAAAAATGCAAACTACAAAGTACAAGGTAGTATATATGAACCCGTTGATATATTCTGAAACTCCAAATGATTTTTGTGTGGGAAGTATTGTCCATATTTTCAACACATTTCTACACAGTATAACTTTTATAATGAGAAAAATATTTTAAGTTAGCTATGAGGAAGTACTTCACGAGATTAAATCCCGTCAATGCTTATCTTTACCTACTTCAGGTGCATGTCTCTGTAAGCTGCCTTTTAACTGTTTTTAGAACATGGTAGGGTGTGAGTAATAATCCCAAATAAACTACTCCTCCTCAGCTTGCTTGAGTGGTTACAGCAGGTCAGAGAGTCAATCTTTCAGGCTCCTTGGCCATAAGATCTGGCTGCAACTACTCAACTGTGCTGCTGTAGCACAAAACAGGCGTCGCTGTGTTCCAAAAAAATACCCTTTAAGTACAAAACATGATGGGCCAGTTTGCTGACCCCTGGATCAGAGAACAAACTCAAACGCTGGTATGTCAATCTCAAGTAGTCAGAAAGCATGACAGACAGGGAAAAGGTGCCCCCCACCCACTCAGCCCTGCCAATCAGATCTAAGGAGGCAGTGCCCGTTCCCAACGTGAGCAGGCCGCCCTGCTCTGCGTGGACTAGCGAGCTCATTTCCTGAATGGGTATTCTTGATTCTAATGAAGGAATGCCCCCTGCCACCTGAATGCATCCAAAGCCAGCTCAGGAGTTACCAGCTCAAGCAGCAGCTTCAGCGGACGCTGCTGCCATGCACGGGACAAACTCCGGGAGGCAGTATTCCCCCGACTCAGGTGGCAACACAGCCATTCTCAGGCCTGGCTTAGTTAGAGAGCACTTGACTTCTACAGATCCCAGGGTTAAAGCCAGACCTAGAAACCTGATGGCTGGCCTGAACGGGCAGAGGCAAACAAATTGCCAGGAAGCCACCAGGGCAGTCCTGGGATCAAGATGCTTCAGCCTGCCTCTCCCGTAACAGGGGAGGTACTGAGATTGCAAGTGGAGAGTCTCCTAGCCAGAGGGGTCGATTTAGCCCAATTCAGCACTCTAAGGTAAAAAAGGGAAACTAAACCATATAATTTTCAAAATTCCTAGAAATGACGAAACCTGAAAAACAAAGAAAAATGCTAACAAGGGGCCTCCGTGCCACCTACCATGTGCATCATCATCTGGATAGCAATTTCAGAATACTGGCTGATATAGTTCTTGCACTGAGGAGAGAGAAACAGATTGCTAAACAAATCACTGCAACAATGCACCAAAACCCAACCAACAAAAACCCCCCAGCATTTCCAACAGTGTCAACTGGTGACTATCAAGCAAGTTTCTAAAGTAGAATTTTATGAATGTCTGCTCTGGGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGA
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GGAAGCAGCAGACCACTACTGCAAGCAGATTCCCCGACACATACCTGATCCTGCTGTTGAACAAAAAAACAGGAAATCGGAGGTGAAAATAAGAGAAAGGAAAGGACACAACAGTTAAGAAAAATTAAAACAACAATCAAGCAGTTAACCAGGTGTAAGGATGTCCCAAGAGGTTCAGGGGAAATGCTCTTGCAATCAGATCTTAGCAACCTACCTTGTTCCTGCTATCTTGCGGACAAGGGGGCCCTGAAAGCTTTCCTGGCCCTGCAGGGATAGACCATTTGGGGGCTGTCCTGCTCTGTGTGCACCATCTCCAGGTCTTACACACTAAATCACACTCAAAACACTGTGTAGCAAGAGCCCCAGAAAATGCTTGATGAAGGGTCTCCATACTCAGGAGCCCACACTGGCCCCGGGCCCACAAGGCTTTCCCACAGGTTAGTGACCAGCAGCACCACAGAACAAGACACAGGGCTGCCCAAGTAAGGGGGGTAAGGGATCCCTGAGGGGTAAGGGATCCTAGGGCAATCTACTGCAGGTGGCCAAATGGCAGCCTGGAAGGCCAATTTAACAATGTATCCAAAGCCTCATGCTTCCATTCAGCAGTTCCAGCTTTAGTTCTCTATAATAAGGGGAAAGGCAGGGATATGCATATATGTATGCATTTGGCTATAAGGATATTCATCTTCCCAAAGGCAAACCTGAAAACAACCTAGATACATCCGGCCACCGGGGACCAATTATGTAAATTCTCTTCTATGTACACAGGTGATTATTCTGCAAGCATTTAGTCATTTGTACAAGAATATTCAATGGCCAACATATTTTTAGGCAAAAAATGCAAACTACAAAGTACAAGGTAGTATATATGAACCCGTTGATATATTCTGAAACTCCAAATGATTTTTGTGTGGGAAGTATTGTCCATATTTTCAACACATTTCTACACAGTATAACTTTTATAATGAGAAAAATATTTTAAGTTAGCTATGAGGAAGTACTTCACGAGATTAAATCCCGTCAATGCTTATCTTTACCTACTTCAGGTGCATGTCTCTGTAAGCTGCCTTTTAACTGTTTTTAGAACATGGTAGGGTGTGAGTAATAATCCCAAATAAACTACTCCTCCTCAGCTTGCTTGAGTGGTTACAGCAGGTCAGAGAGTCAATCTTTCAGGCTCCTTGGCCATAAGATCTGGCTGCAACTACTCAACTGTGCTGCTGTAGCACAAAACAGGCGTCGCTGTGTTCCAAAAAAATACCCTTTAAGTACAAAACATGATGGGCCAGTTTGCTGACCCCTGGATCAGAGAACAAACTCAAACGCTGGTATGTCAATCTCAAGTAGTCAGAAAGCATGACAGACAGGGAAAAGGTGCCCCCCACCCACTCAGCCCTGCCAATCAGATCTAAGGAGGCAGTGCCCGTTCCCAACGTGAGCAGGCCGCCCTGCTCTGCGTGGACTAGCGAGCTCATTTCCTGAATGGGTATTCTTGATTCTAATGAAGGAATGCCCCCTGCCACCTGAATGCATCCAAAGCCAGCTCAGGAGTTACCAGCTCAAGCAGCAGCTTCAGCGGACGCTGCTGCCATGCACGGGACAAACTCCGGGAGGCAGTATTCCCCCGACTCAGGTGGCAACACAGCCATTCTCAGGCCTGGCTTAGTTAGAGAGCACTTGACTTCTACAGATCCCAGGGTTAAAGCCAGACCTAGAAACCTGATGGCTGGCCTGAACGGGCAGAGGCAAACAAATTGCCAGGAAGCCACCAGGGCAGTCCTGGGATCAAGATGCTTCAGCCTGCCTCTCCCGTAACAGGGGAGGTACTGAGATTGCAAGTGGAGAGTCTCCTAGCCAGAGGGGTCGATTTAGCCCAATTCAGCACTCTAAGGTAAAAAAGGGAAACTAAACCATATAATTTTCAAAATTCCTAGAAATGACGAAACCTGAAAAACAAAGAAAAATGCTAACAAGGGGCCTCCGTGCCACCTACCATGTGCATCATCATCTGGATAGCAATTTCAGAATACTGGCTGATATAGTTCTTGGACTGAGGAGAGAGAAACAGATTGCTAAACAAATCACTGCAACAATGCACCAAAACCCAACCAACAAAAACCCCCCAGCATTTCCAACAGTGTCAACTGGTGACTATCAAGCAAGTTTCTAAAGTAGAATTTTATGAATGTCTGCTCTGGGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGA
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Task1_train_14052
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A mutation found in PSAP (prosaposin) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Sphingolipid activator protein 1 deficiency
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GGAAGCAGCAGACCACTACTGCAAGCAGATTCCCCGACACATACCTGATCCTGCTGTTGAACAAAAAAACAGGAAATCGGAGGTGAAAATAAGAGAAAGGAAAGGACACAACAGTTAAGAAAAATTAAAACAACAATCAAGCAGTTAACCAGGTGTAAGGATGTCCCAAGAGGTTCAGGGGAAATGCTCTTGCAATCAGATCTTAGCAACCTACCTTGTTCCTGCTATCTTGCGGACAAGGGGGCCCTGAAAGCTTTCCTGGCCCTGCAGGGATAGACCATTTGGGGGCTGTCCTGCTCTGTGTGCACCATCTCCAGGTCTTACACACTAAATCACACTCAAAACACTGTGTAGCAAGAGCCCCAGAAAATGCTTGATGAAGGGTCTCCATACTCAGGAGCCCACACTGGCCCCGGGCCCACAAGGCTTTCCCACAGGTTAGTGACCAGCAGCACCACAGAACAAGACACAGGGCTGCCCAAGTAAGGGGGGTAAGGGATCCCTGAGGGGTAAGGGATCCTAGGGCAATCTACTGCAGGTGGCCAAATGGCAGCCTGGAAGGCCAATTTAACAATGTATCCAAAGCCTCATGCTTCCATTCAGCAGTTCCAGCTTTAGTTCTCTATAATAAGGGGAAAGGCAGGGATATGCATATATGTATGCATTTGGCTATAAGGATATTCATCTTCCCAAAGGCAAACCTGAAAACAACCTAGATACATCCGGCCACCGGGGACCAATTATGTAAATTCTCTTCTATGTACACAGGTGATTATTCTGCAAGCATTTAGTCATTTGTACAAGAATATTCAATGGCCAACATATTTTTAGGCAAAAAATGCAAACTACAAAGTACAAGGTAGTATATATGAACCCGTTGATATATTCTGAAACTCCAAATGATTTTTGTGTGGGAAGTATTGTCCATATTTTCAACACATTTCTACACAGTATAACTTTTATAATGAGAAAAATATTTTAAGTTAGCTATGAGGAAGTACTTCACGAGATTAAATCCCGTCAATGCTTATCTTTACCTACTTCAGGTGCATGTCTCTGTAAGCTGCCTTTTAACTGTTTTTAGAACATGGTAGGGTGTGAGTAATAATCCCAAATAAACTACTCCTCCTCAGCTTGCTTGAGTGGTTACAGCAGGTCAGAGAGTCAATCTTTCAGGCTCCTTGGCCATAAGATCTGGCTGCAACTACTCAACTGTGCTGCTGTAGCACAAAACAGGCGTCGCTGTGTTCCAAAAAAATACCCTTTAAGTACAAAACATGATGGGCCAGTTTGCTGACCCCTGGATCAGAGAACAAACTCAAACGCTGGTATGTCAATCTCAAGTAGTCAGAAAGCATGACAGACAGGGAAAAGGTGCCCCCCACCCACTCAGCCCTGCCAATCAGATCTAAGGAGGCAGTGCCCGTTCCCAACGTGAGCAGGCCGCCCTGCTCTGCGTGGACTAGCGAGCTCATTTCCTGAATGGGTATTCTTGATTCTAATGAAGGAATGCCCCCTGCCACCTGAATGCATCCAAAGCCAGCTCAGGAGTTACCAGCTCAAGCAGCAGCTTCAGCGGACGCTGCTGCCATGCACGGGACAAACTCCGGGAGGCAGTATTCCCCCGACTCAGGTGGCAACACAGCCATTCTCAGGCCTGGCTTAGTTAGAGAGCACTTGACTTCTACAGATCCCAGGGTTAAAGCCAGACCTAGAAACCTGATGGCTGGCCTGAACGGGCAGAGGCAAACAAATTGCCAGGAAGCCACCAGGGCAGTCCTGGGATCAAGATGCTTCAGCCTGCCTCTCCCGTAACAGGGGAGGTACTGAGATTGCAAGTGGAGAGTCTCCTAGCCAGAGGGGTCGATTTAGCCCAATTCAGCACTCTAAGGTAAAAAAGGGAAACTAAACCATATAATTTTCAAAATTCCTAGAAATGACGAAACCTGAAAAACAAAGAAAAATGCTAACAAGGGGCCTCCGTGCCACCTACCATGTGCATCATCATCTGGATAGCAATTTCAGAATACTGGCTGATATAGTTCTTGCACTGAGGAGAGAGAAACAGATTGCTAAACAAATCACTGCAACAATGCACCAAAACCCAACCAACAAAAACCCCCCAGCATTTCCAACAGTGTCAACTGGTGACTATCAAGCAAGTTTCTAAAGTAGAATTTTATGAATGTCTGCTCTGGGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGA
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GGAAGCAGCAGACCACTACTGCAAGCAGATTCCCCGACACATACCTGATCCTGCTGTTGAACAAAAAAACAGGAAATCGGAGGTGAAAATAAGAGAAAGGAAAGGACACAACAGTTAAGAAAAATTAAAACAACAATCAAGCAGTTAACCAGGTGTAAGGATGTCCCAAGAGGTTCAGGGGAAATGCTCTTGCAATCAGATCTTAGCAACCTACCTTGTTCCTGCTATCTTGCGGACAAGGGGGCCCTGAAAGCTTTCCTGGCCCTGCAGGGATAGACCATTTGGGGGCTGTCCTGCTCTGTGTGCACCATCTCCAGGTCTTACACACTAAATCACACTCAAAACACTGTGTAGCAAGAGCCCCAGAAAATGCTTGATGAAGGGTCTCCATACTCAGGAGCCCACACTGGCCCCGGGCCCACAAGGCTTTCCCACAGGTTAGTGACCAGCAGCACCACAGAACAAGACACAGGGCTGCCCAAGTAAGGGGGGTAAGGGATCCCTGAGGGGTAAGGGATCCTAGGGCAATCTACTGCAGGTGGCCAAATGGCAGCCTGGAAGGCCAATTTAACAATGTATCCAAAGCCTCATGCTTCCATTCAGCAGTTCCAGCTTTAGTTCTCTATAATAAGGGGAAAGGCAGGGATATGCATATATGTATGCATTTGGCTATAAGGATATTCATCTTCCCAAAGGCAAACCTGAAAACAACCTAGATACATCCGGCCACCGGGGACCAATTATGTAAATTCTCTTCTATGTACACAGGTGATTATTCTGCAAGCATTTAGTCATTTGTACAAGAATATTCAATGGCCAACATATTTTTAGGCAAAAAATGCAAACTACAAAGTACAAGGTAGTATATATGAACCCGTTGATATATTCTGAAACTCCAAATGATTTTTGTGTGGGAAGTATTGTCCATATTTTCAACACATTTCTACACAGTATAACTTTTATAATGAGAAAAATATTTTAAGTTAGCTATGAGGAAGTACTTCACGAGATTAAATCCCGTCAATGCTTATCTTTACCTACTTCAGGTGCATGTCTCTGTAAGCTGCCTTTTAACTGTTTTTAGAACATGGTAGGGTGTGAGTAATAATCCCAAATAAACTACTCCTCCTCAGCTTGCTTGAGTGGTTACAGCAGGTCAGAGAGTCAATCTTTCAGGCTCCTTGGCCATAAGATCTGGCTGCAACTACTCAACTGTGCTGCTGTAGCACAAAACAGGCGTCGCTGTGTTCCAAAAAAATACCCTTTAAGTACAAAACATGATGGGCCAGTTTGCTGACCCCTGGATCAGAGAACAAACTCAAACGCTGGTATGTCAATCTCAAGTAGTCAGAAAGCATGACAGACAGGGAAAAGGTGCCCCCCACCCACTCAGCCCTGCCAATCAGATCTAAGGAGGCAGTGCCCGTTCCCAACGTGAGCAGGCCGCCCTGCTCTGCGTGGACTAGCGAGCTCATTTCCTGAATGGGTATTCTTGATTCTAATGAAGGAATGCCCCCTGCCACCTGAATGCATCCAAAGCCAGCTCAGGAGTTACCAGCTCAAGCAGCAGCTTCAGCGGACGCTGCTGCCATGCACGGGACAAACTCCGGGAGGCAGTATTCCCCCGACTCAGGTGGCAACACAGCCATTCTCAGGCCTGGCTTAGTTAGAGAGCACTTGACTTCTACAGATCCCAGGGTTAAAGCCAGACCTAGAAACCTGATGGCTGGCCTGAACGGGCAGAGGCAAACAAATTGCCAGGAAGCCACCAGGGCAGTCCTGGGATCAAGATGCTTCAGCCTGCCTCTCCCGTAACAGGGGAGGTACTGAGATTGCAAGTGGAGAGTCTCCTAGCCAGAGGGGTCGATTTAGCCCAATTCAGCACTCTAAGGTAAAAAAGGGAAACTAAACCATATAATTTTCAAAATTCCTAGAAATGACGAAACCTGAAAAACAAAGAAAAATGCTAACAAGGGGCCTCCGTGCCACCTACCATGTGCATCATCATCTGGATAGCAATTTCAGAATACTGGCTGATATAGTTCTTGGACTGAGGAGAGAGAAACAGATTGCTAAACAAATCACTGCAACAATGCACCAAAACCCAACCAACAAAAACCCCCCAGCATTTCCAACAGTGTCAACTGGTGACTATCAAGCAAGTTTCTAAAGTAGAATTTTATGAATGTCTGCTCTGGGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGA
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Task1_train_14053
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Mutation context: Chromosome 10, Gene PSAP (prosaposin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Parkinson disease 24, autosomal dominant, susceptibility to
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GGAAGCAGCAGACCACTACTGCAAGCAGATTCCCCGACACATACCTGATCCTGCTGTTGAACAAAAAAACAGGAAATCGGAGGTGAAAATAAGAGAAAGGAAAGGACACAACAGTTAAGAAAAATTAAAACAACAATCAAGCAGTTAACCAGGTGTAAGGATGTCCCAAGAGGTTCAGGGGAAATGCTCTTGCAATCAGATCTTAGCAACCTACCTTGTTCCTGCTATCTTGCGGACAAGGGGGCCCTGAAAGCTTTCCTGGCCCTGCAGGGATAGACCATTTGGGGGCTGTCCTGCTCTGTGTGCACCATCTCCAGGTCTTACACACTAAATCACACTCAAAACACTGTGTAGCAAGAGCCCCAGAAAATGCTTGATGAAGGGTCTCCATACTCAGGAGCCCACACTGGCCCCGGGCCCACAAGGCTTTCCCACAGGTTAGTGACCAGCAGCACCACAGAACAAGACACAGGGCTGCCCAAGTAAGGGGGGTAAGGGATCCCTGAGGGGTAAGGGATCCTAGGGCAATCTACTGCAGGTGGCCAAATGGCAGCCTGGAAGGCCAATTTAACAATGTATCCAAAGCCTCATGCTTCCATTCAGCAGTTCCAGCTTTAGTTCTCTATAATAAGGGGAAAGGCAGGGATATGCATATATGTATGCATTTGGCTATAAGGATATTCATCTTCCCAAAGGCAAACCTGAAAACAACCTAGATACATCCGGCCACCGGGGACCAATTATGTAAATTCTCTTCTATGTACACAGGTGATTATTCTGCAAGCATTTAGTCATTTGTACAAGAATATTCAATGGCCAACATATTTTTAGGCAAAAAATGCAAACTACAAAGTACAAGGTAGTATATATGAACCCGTTGATATATTCTGAAACTCCAAATGATTTTTGTGTGGGAAGTATTGTCCATATTTTCAACACATTTCTACACAGTATAACTTTTATAATGAGAAAAATATTTTAAGTTAGCTATGAGGAAGTACTTCACGAGATTAAATCCCGTCAATGCTTATCTTTACCTACTTCAGGTGCATGTCTCTGTAAGCTGCCTTTTAACTGTTTTTAGAACATGGTAGGGTGTGAGTAATAATCCCAAATAAACTACTCCTCCTCAGCTTGCTTGAGTGGTTACAGCAGGTCAGAGAGTCAATCTTTCAGGCTCCTTGGCCATAAGATCTGGCTGCAACTACTCAACTGTGCTGCTGTAGCACAAAACAGGCGTCGCTGTGTTCCAAAAAAATACCCTTTAAGTACAAAACATGATGGGCCAGTTTGCTGACCCCTGGATCAGAGAACAAACTCAAACGCTGGTATGTCAATCTCAAGTAGTCAGAAAGCATGACAGACAGGGAAAAGGTGCCCCCCACCCACTCAGCCCTGCCAATCAGATCTAAGGAGGCAGTGCCCGTTCCCAACGTGAGCAGGCCGCCCTGCTCTGCGTGGACTAGCGAGCTCATTTCCTGAATGGGTATTCTTGATTCTAATGAAGGAATGCCCCCTGCCACCTGAATGCATCCAAAGCCAGCTCAGGAGTTACCAGCTCAAGCAGCAGCTTCAGCGGACGCTGCTGCCATGCACGGGACAAACTCCGGGAGGCAGTATTCCCCCGACTCAGGTGGCAACACAGCCATTCTCAGGCCTGGCTTAGTTAGAGAGCACTTGACTTCTACAGATCCCAGGGTTAAAGCCAGACCTAGAAACCTGATGGCTGGCCTGAACGGGCAGAGGCAAACAAATTGCCAGGAAGCCACCAGGGCAGTCCTGGGATCAAGATGCTTCAGCCTGCCTCTCCCGTAACAGGGGAGGTACTGAGATTGCAAGTGGAGAGTCTCCTAGCCAGAGGGGTCGATTTAGCCCAATTCAGCACTCTAAGGTAAAAAAGGGAAACTAAACCATATAATTTTCAAAATTCCTAGAAATGACGAAACCTGAAAAACAAAGAAAAATGCTAACAAGGGGCCTCCGTGCCACCTACCATGTGCATCATCATCTGGATAGCAATTTCAGAATACTGGCTGATATAGTTCTTGCACTGAGGAGAGAGAAACAGATTGCTAAACAAATCACTGCAACAATGCACCAAAACCCAACCAACAAAAACCCCCCAGCATTTCCAACAGTGTCAACTGGTGACTATCAAGCAAGTTTCTAAAGTAGAATTTTATGAATGTCTGCTCTGGGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGA
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GGAAGCAGCAGACCACTACTGCAAGCAGATTCCCCGACACATACCTGATCCTGCTGTTGAACAAAAAAACAGGAAATCGGAGGTGAAAATAAGAGAAAGGAAAGGACACAACAGTTAAGAAAAATTAAAACAACAATCAAGCAGTTAACCAGGTGTAAGGATGTCCCAAGAGGTTCAGGGGAAATGCTCTTGCAATCAGATCTTAGCAACCTACCTTGTTCCTGCTATCTTGCGGACAAGGGGGCCCTGAAAGCTTTCCTGGCCCTGCAGGGATAGACCATTTGGGGGCTGTCCTGCTCTGTGTGCACCATCTCCAGGTCTTACACACTAAATCACACTCAAAACACTGTGTAGCAAGAGCCCCAGAAAATGCTTGATGAAGGGTCTCCATACTCAGGAGCCCACACTGGCCCCGGGCCCACAAGGCTTTCCCACAGGTTAGTGACCAGCAGCACCACAGAACAAGACACAGGGCTGCCCAAGTAAGGGGGGTAAGGGATCCCTGAGGGGTAAGGGATCCTAGGGCAATCTACTGCAGGTGGCCAAATGGCAGCCTGGAAGGCCAATTTAACAATGTATCCAAAGCCTCATGCTTCCATTCAGCAGTTCCAGCTTTAGTTCTCTATAATAAGGGGAAAGGCAGGGATATGCATATATGTATGCATTTGGCTATAAGGATATTCATCTTCCCAAAGGCAAACCTGAAAACAACCTAGATACATCCGGCCACCGGGGACCAATTATGTAAATTCTCTTCTATGTACACAGGTGATTATTCTGCAAGCATTTAGTCATTTGTACAAGAATATTCAATGGCCAACATATTTTTAGGCAAAAAATGCAAACTACAAAGTACAAGGTAGTATATATGAACCCGTTGATATATTCTGAAACTCCAAATGATTTTTGTGTGGGAAGTATTGTCCATATTTTCAACACATTTCTACACAGTATAACTTTTATAATGAGAAAAATATTTTAAGTTAGCTATGAGGAAGTACTTCACGAGATTAAATCCCGTCAATGCTTATCTTTACCTACTTCAGGTGCATGTCTCTGTAAGCTGCCTTTTAACTGTTTTTAGAACATGGTAGGGTGTGAGTAATAATCCCAAATAAACTACTCCTCCTCAGCTTGCTTGAGTGGTTACAGCAGGTCAGAGAGTCAATCTTTCAGGCTCCTTGGCCATAAGATCTGGCTGCAACTACTCAACTGTGCTGCTGTAGCACAAAACAGGCGTCGCTGTGTTCCAAAAAAATACCCTTTAAGTACAAAACATGATGGGCCAGTTTGCTGACCCCTGGATCAGAGAACAAACTCAAACGCTGGTATGTCAATCTCAAGTAGTCAGAAAGCATGACAGACAGGGAAAAGGTGCCCCCCACCCACTCAGCCCTGCCAATCAGATCTAAGGAGGCAGTGCCCGTTCCCAACGTGAGCAGGCCGCCCTGCTCTGCGTGGACTAGCGAGCTCATTTCCTGAATGGGTATTCTTGATTCTAATGAAGGAATGCCCCCTGCCACCTGAATGCATCCAAAGCCAGCTCAGGAGTTACCAGCTCAAGCAGCAGCTTCAGCGGACGCTGCTGCCATGCACGGGACAAACTCCGGGAGGCAGTATTCCCCCGACTCAGGTGGCAACACAGCCATTCTCAGGCCTGGCTTAGTTAGAGAGCACTTGACTTCTACAGATCCCAGGGTTAAAGCCAGACCTAGAAACCTGATGGCTGGCCTGAACGGGCAGAGGCAAACAAATTGCCAGGAAGCCACCAGGGCAGTCCTGGGATCAAGATGCTTCAGCCTGCCTCTCCCGTAACAGGGGAGGTACTGAGATTGCAAGTGGAGAGTCTCCTAGCCAGAGGGGTCGATTTAGCCCAATTCAGCACTCTAAGGTAAAAAAGGGAAACTAAACCATATAATTTTCAAAATTCCTAGAAATGACGAAACCTGAAAAACAAAGAAAAATGCTAACAAGGGGCCTCCGTGCCACCTACCATGTGCATCATCATCTGGATAGCAATTTCAGAATACTGGCTGATATAGTTCTTGGACTGAGGAGAGAGAAACAGATTGCTAAACAAATCACTGCAACAATGCACCAAAACCCAACCAACAAAAACCCCCCAGCATTTCCAACAGTGTCAACTGGTGACTATCAAGCAAGTTTCTAAAGTAGAATTTTATGAATGTCTGCTCTGGGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGA
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Task1_train_14054
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A variant was discovered in gene PSAP (prosaposin), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Sphingolipid activator protein 1 deficiency
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GAAGCAGCAGACCACTACTGCAAGCAGATTCCCCGACACATACCTGATCCTGCTGTTGAACAAAAAAACAGGAAATCGGAGGTGAAAATAAGAGAAAGGAAAGGACACAACAGTTAAGAAAAATTAAAACAACAATCAAGCAGTTAACCAGGTGTAAGGATGTCCCAAGAGGTTCAGGGGAAATGCTCTTGCAATCAGATCTTAGCAACCTACCTTGTTCCTGCTATCTTGCGGACAAGGGGGCCCTGAAAGCTTTCCTGGCCCTGCAGGGATAGACCATTTGGGGGCTGTCCTGCTCTGTGTGCACCATCTCCAGGTCTTACACACTAAATCACACTCAAAACACTGTGTAGCAAGAGCCCCAGAAAATGCTTGATGAAGGGTCTCCATACTCAGGAGCCCACACTGGCCCCGGGCCCACAAGGCTTTCCCACAGGTTAGTGACCAGCAGCACCACAGAACAAGACACAGGGCTGCCCAAGTAAGGGGGGTAAGGGATCCCTGAGGGGTAAGGGATCCTAGGGCAATCTACTGCAGGTGGCCAAATGGCAGCCTGGAAGGCCAATTTAACAATGTATCCAAAGCCTCATGCTTCCATTCAGCAGTTCCAGCTTTAGTTCTCTATAATAAGGGGAAAGGCAGGGATATGCATATATGTATGCATTTGGCTATAAGGATATTCATCTTCCCAAAGGCAAACCTGAAAACAACCTAGATACATCCGGCCACCGGGGACCAATTATGTAAATTCTCTTCTATGTACACAGGTGATTATTCTGCAAGCATTTAGTCATTTGTACAAGAATATTCAATGGCCAACATATTTTTAGGCAAAAAATGCAAACTACAAAGTACAAGGTAGTATATATGAACCCGTTGATATATTCTGAAACTCCAAATGATTTTTGTGTGGGAAGTATTGTCCATATTTTCAACACATTTCTACACAGTATAACTTTTATAATGAGAAAAATATTTTAAGTTAGCTATGAGGAAGTACTTCACGAGATTAAATCCCGTCAATGCTTATCTTTACCTACTTCAGGTGCATGTCTCTGTAAGCTGCCTTTTAACTGTTTTTAGAACATGGTAGGGTGTGAGTAATAATCCCAAATAAACTACTCCTCCTCAGCTTGCTTGAGTGGTTACAGCAGGTCAGAGAGTCAATCTTTCAGGCTCCTTGGCCATAAGATCTGGCTGCAACTACTCAACTGTGCTGCTGTAGCACAAAACAGGCGTCGCTGTGTTCCAAAAAAATACCCTTTAAGTACAAAACATGATGGGCCAGTTTGCTGACCCCTGGATCAGAGAACAAACTCAAACGCTGGTATGTCAATCTCAAGTAGTCAGAAAGCATGACAGACAGGGAAAAGGTGCCCCCCACCCACTCAGCCCTGCCAATCAGATCTAAGGAGGCAGTGCCCGTTCCCAACGTGAGCAGGCCGCCCTGCTCTGCGTGGACTAGCGAGCTCATTTCCTGAATGGGTATTCTTGATTCTAATGAAGGAATGCCCCCTGCCACCTGAATGCATCCAAAGCCAGCTCAGGAGTTACCAGCTCAAGCAGCAGCTTCAGCGGACGCTGCTGCCATGCACGGGACAAACTCCGGGAGGCAGTATTCCCCCGACTCAGGTGGCAACACAGCCATTCTCAGGCCTGGCTTAGTTAGAGAGCACTTGACTTCTACAGATCCCAGGGTTAAAGCCAGACCTAGAAACCTGATGGCTGGCCTGAACGGGCAGAGGCAAACAAATTGCCAGGAAGCCACCAGGGCAGTCCTGGGATCAAGATGCTTCAGCCTGCCTCTCCCGTAACAGGGGAGGTACTGAGATTGCAAGTGGAGAGTCTCCTAGCCAGAGGGGTCGATTTAGCCCAATTCAGCACTCTAAGGTAAAAAAGGGAAACTAAACCATATAATTTTCAAAATTCCTAGAAATGACGAAACCTGAAAAACAAAGAAAAATGCTAACAAGGGGCCTCCGTGCCACCTACCATGTGCATCATCATCTGGATAGCAATTTCAGAATACTGGCTGATATAGTTCTTGCACTGAGGAGAGAGAAACAGATTGCTAAACAAATCACTGCAACAATGCACCAAAACCCAACCAACAAAAACCCCCCAGCATTTCCAACAGTGTCAACTGGTGACTATCAAGCAAGTTTCTAAAGTAGAATTTTATGAATGTCTGCTCTGGGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGAA
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GAAGCAGCAGACCACTACTGCAAGCAGATTCCCCGACACATACCTGATCCTGCTGTTGAACAAAAAAACAGGAAATCGGAGGTGAAAATAAGAGAAAGGAAAGGACACAACAGTTAAGAAAAATTAAAACAACAATCAAGCAGTTAACCAGGTGTAAGGATGTCCCAAGAGGTTCAGGGGAAATGCTCTTGCAATCAGATCTTAGCAACCTACCTTGTTCCTGCTATCTTGCGGACAAGGGGGCCCTGAAAGCTTTCCTGGCCCTGCAGGGATAGACCATTTGGGGGCTGTCCTGCTCTGTGTGCACCATCTCCAGGTCTTACACACTAAATCACACTCAAAACACTGTGTAGCAAGAGCCCCAGAAAATGCTTGATGAAGGGTCTCCATACTCAGGAGCCCACACTGGCCCCGGGCCCACAAGGCTTTCCCACAGGTTAGTGACCAGCAGCACCACAGAACAAGACACAGGGCTGCCCAAGTAAGGGGGGTAAGGGATCCCTGAGGGGTAAGGGATCCTAGGGCAATCTACTGCAGGTGGCCAAATGGCAGCCTGGAAGGCCAATTTAACAATGTATCCAAAGCCTCATGCTTCCATTCAGCAGTTCCAGCTTTAGTTCTCTATAATAAGGGGAAAGGCAGGGATATGCATATATGTATGCATTTGGCTATAAGGATATTCATCTTCCCAAAGGCAAACCTGAAAACAACCTAGATACATCCGGCCACCGGGGACCAATTATGTAAATTCTCTTCTATGTACACAGGTGATTATTCTGCAAGCATTTAGTCATTTGTACAAGAATATTCAATGGCCAACATATTTTTAGGCAAAAAATGCAAACTACAAAGTACAAGGTAGTATATATGAACCCGTTGATATATTCTGAAACTCCAAATGATTTTTGTGTGGGAAGTATTGTCCATATTTTCAACACATTTCTACACAGTATAACTTTTATAATGAGAAAAATATTTTAAGTTAGCTATGAGGAAGTACTTCACGAGATTAAATCCCGTCAATGCTTATCTTTACCTACTTCAGGTGCATGTCTCTGTAAGCTGCCTTTTAACTGTTTTTAGAACATGGTAGGGTGTGAGTAATAATCCCAAATAAACTACTCCTCCTCAGCTTGCTTGAGTGGTTACAGCAGGTCAGAGAGTCAATCTTTCAGGCTCCTTGGCCATAAGATCTGGCTGCAACTACTCAACTGTGCTGCTGTAGCACAAAACAGGCGTCGCTGTGTTCCAAAAAAATACCCTTTAAGTACAAAACATGATGGGCCAGTTTGCTGACCCCTGGATCAGAGAACAAACTCAAACGCTGGTATGTCAATCTCAAGTAGTCAGAAAGCATGACAGACAGGGAAAAGGTGCCCCCCACCCACTCAGCCCTGCCAATCAGATCTAAGGAGGCAGTGCCCGTTCCCAACGTGAGCAGGCCGCCCTGCTCTGCGTGGACTAGCGAGCTCATTTCCTGAATGGGTATTCTTGATTCTAATGAAGGAATGCCCCCTGCCACCTGAATGCATCCAAAGCCAGCTCAGGAGTTACCAGCTCAAGCAGCAGCTTCAGCGGACGCTGCTGCCATGCACGGGACAAACTCCGGGAGGCAGTATTCCCCCGACTCAGGTGGCAACACAGCCATTCTCAGGCCTGGCTTAGTTAGAGAGCACTTGACTTCTACAGATCCCAGGGTTAAAGCCAGACCTAGAAACCTGATGGCTGGCCTGAACGGGCAGAGGCAAACAAATTGCCAGGAAGCCACCAGGGCAGTCCTGGGATCAAGATGCTTCAGCCTGCCTCTCCCGTAACAGGGGAGGTACTGAGATTGCAAGTGGAGAGTCTCCTAGCCAGAGGGGTCGATTTAGCCCAATTCAGCACTCTAAGGTAAAAAAGGGAAACTAAACCATATAATTTTCAAAATTCCTAGAAATGACGAAACCTGAAAAACAAAGAAAAATGCTAACAAGGGGCCTCCGTGCCACCTACCATGTGCATCATCATCTGGATAGCAATTTCAGAATACTGGCTGATATAGTTCTTGCCCTGAGGAGAGAGAAACAGATTGCTAAACAAATCACTGCAACAATGCACCAAAACCCAACCAACAAAAACCCCCCAGCATTTCCAACAGTGTCAACTGGTGACTATCAAGCAAGTTTCTAAAGTAGAATTTTATGAATGTCTGCTCTGGGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGAA
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Task1_train_14055
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This mutation occurs in PSAP (prosaposin) on Chromosome 10. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Sphingolipid activator protein 1 deficiency
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GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGAACGCCCTACTCCAGCCTCCACAGCCCAACTCCCAGGCCCAGAACATCCCCAATGCACAAGGACACAAGGCTCACTATGTCGGCCATGCCAGGGCCCAGGCGGTCACACTCCTCCTTGACATGTTCCACCAAGGCCTGGACAAAGGTGGAGTTGGTCCGTACAGCAGTCTGGATGTCAGTCACCATCTGAATGCAGTCCTGGCAAACGTCCCCATTATCCTACAGAAGAGGCAGTTAGGTTTGCAACTTAAGAGGACTCAAATTCCTAGGAAAACGTCCTTATATACTCAGGGCTGCAGCATTAGGGGGCACTTGCTGACCAGTTCCTAAGATGCTTTACAGGCTCTCAAATTACTGATAGGCTTAAAATCGATTAAGTGTTCATTATAGTAACAGTATGGTATAAAAAGGGGGTTTAGTATAAATAAAAAGGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCGCTTGAACCCAGGAGTTTGAGACCAGTCTGAGCAACATGGCAAAACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCATTTGTACTCCCAGCTACTTAGGAGGCTAAGGTGGGAGGATCACTTAAGCCTCAGAGGTTGAGGCTGCAGTGAACCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAACGAGACCCTGTCTCAAAAATAAAAGAAGTAAATTTTTTTAAAGGGGATTAATCTTTGCATATTTTAAATATCCCATTCTTTAGAAACTTCATGGTACAACCATTTAAAGGCTGGCTCATGTGACTGCAGAGTCACGCACAGGGATAAGCCCCAGTTTAAGAACCACACGTGCCCTCTCTGTCCCTTTGGTCTCTCATCTCCAGTGCAACCAAAAATGGGTCCTCAGTGGCCAGCCCGTTGTCTTACCTTTGGCTGGGGCTTGCTGCGGGGGCCGTCCTGAGGGTAGAGGAGGAGAGGGATGTTGGCCATGAAGGGGGCCACCACCTCAGTCATGTCCAGCTCTGGGATCTTATTGGACTCCAGCTGCTTCTGGTGATTCAGCTCTGCTAGGTGCTTCTGGAGAGACTCGCAGAGGTTGAGAGCAGAGCACACCTCCCCAGGACGGCTCTGGTGGGATGGAAAGAAGTCCTGCTGAAAATCCTCTCCCCAGGGGAAAATAAGACAGGCCATCTAGTGCCTCTGAATTAGTCCCTCTCTTTAAATCCCTTAAAAGAAACACAAACCTGTTGTCTAAATTCAAACTGCTCAGCATACCAAGAATGACAAAATTACCCAATCCGAGTGCCTAACCACACAGTGGCCCCTAAGCTTCCTCAATTCTCCTATTAGGCAATGATGCAGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAACTGTAGCTGCCATAGTCCCCACGTGTCATGTGAGGGACCTAGTGGGAGGTAACTGAATCACGGGGGCGGGTTTTCCCATGCTGTTTAGTGATAGTAAGTCTCATGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACATGCTCTCTTGCCTGCTGCCATGTAAGATGTGGCTTTGCTCCTCCTTCACCTTCCACCATGATTTTGAGGCCCCCCCAGCCACGTGGAACTGTGAGTCCATTAAACCTTTTTTTCTTTTTTTATAAATTACCCAGTCTCGGGTATGTCTTTATTAGTAGCATGAAAACGGACTAATACAGGCTTCCTAAATGTTACCTCTTTCCCCTCAGCTCTTCTTTAAAGGAACAGGAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGTGAGGCCGAGGCGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAATGTGGTAAAACCCCATCTCTACAAAAATACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGATGGGAGAATCACTTGAACCCGGAAGGCAGAGGTGCTGTCAGTCAAGATCGCGCCATTGCACTCCAGGCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAAATAAATAAATAAATAAATAAAGGAATAGGAGCTTCTTGCTGGAGGAGAAGAGTCAGCAATTCTAAGTCACTTCCCCACAAAATGAGCTAACACGATGGCTTTCAACACCTTCCATATGCTGATGGCTCCCAAGT
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GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGAACGCCCTACTCCAGCCTCCACAGCCCAACTCCCAGGCCCAGAACATCCCCAATGCACAAGGACACAAGGCTCACTATGTCGGCCATGCCAGGGCCCAGGCGGTCACACTCCTCCTTGACATGTTCCACCAAGGCCTGGACAAAGGTGGATTTGGTCCGTACAGCAGTCTGGATGTCAGTCACCATCTGAATGCAGTCCTGGCAAACGTCCCCATTATCCTACAGAAGAGGCAGTTAGGTTTGCAACTTAAGAGGACTCAAATTCCTAGGAAAACGTCCTTATATACTCAGGGCTGCAGCATTAGGGGGCACTTGCTGACCAGTTCCTAAGATGCTTTACAGGCTCTCAAATTACTGATAGGCTTAAAATCGATTAAGTGTTCATTATAGTAACAGTATGGTATAAAAAGGGGGTTTAGTATAAATAAAAAGGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCGCTTGAACCCAGGAGTTTGAGACCAGTCTGAGCAACATGGCAAAACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCATTTGTACTCCCAGCTACTTAGGAGGCTAAGGTGGGAGGATCACTTAAGCCTCAGAGGTTGAGGCTGCAGTGAACCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAACGAGACCCTGTCTCAAAAATAAAAGAAGTAAATTTTTTTAAAGGGGATTAATCTTTGCATATTTTAAATATCCCATTCTTTAGAAACTTCATGGTACAACCATTTAAAGGCTGGCTCATGTGACTGCAGAGTCACGCACAGGGATAAGCCCCAGTTTAAGAACCACACGTGCCCTCTCTGTCCCTTTGGTCTCTCATCTCCAGTGCAACCAAAAATGGGTCCTCAGTGGCCAGCCCGTTGTCTTACCTTTGGCTGGGGCTTGCTGCGGGGGCCGTCCTGAGGGTAGAGGAGGAGAGGGATGTTGGCCATGAAGGGGGCCACCACCTCAGTCATGTCCAGCTCTGGGATCTTATTGGACTCCAGCTGCTTCTGGTGATTCAGCTCTGCTAGGTGCTTCTGGAGAGACTCGCAGAGGTTGAGAGCAGAGCACACCTCCCCAGGACGGCTCTGGTGGGATGGAAAGAAGTCCTGCTGAAAATCCTCTCCCCAGGGGAAAATAAGACAGGCCATCTAGTGCCTCTGAATTAGTCCCTCTCTTTAAATCCCTTAAAAGAAACACAAACCTGTTGTCTAAATTCAAACTGCTCAGCATACCAAGAATGACAAAATTACCCAATCCGAGTGCCTAACCACACAGTGGCCCCTAAGCTTCCTCAATTCTCCTATTAGGCAATGATGCAGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAACTGTAGCTGCCATAGTCCCCACGTGTCATGTGAGGGACCTAGTGGGAGGTAACTGAATCACGGGGGCGGGTTTTCCCATGCTGTTTAGTGATAGTAAGTCTCATGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACATGCTCTCTTGCCTGCTGCCATGTAAGATGTGGCTTTGCTCCTCCTTCACCTTCCACCATGATTTTGAGGCCCCCCCAGCCACGTGGAACTGTGAGTCCATTAAACCTTTTTTTCTTTTTTTATAAATTACCCAGTCTCGGGTATGTCTTTATTAGTAGCATGAAAACGGACTAATACAGGCTTCCTAAATGTTACCTCTTTCCCCTCAGCTCTTCTTTAAAGGAACAGGAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGTGAGGCCGAGGCGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAATGTGGTAAAACCCCATCTCTACAAAAATACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGATGGGAGAATCACTTGAACCCGGAAGGCAGAGGTGCTGTCAGTCAAGATCGCGCCATTGCACTCCAGGCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAAATAAATAAATAAATAAATAAAGGAATAGGAGCTTCTTGCTGGAGGAGAAGAGTCAGCAATTCTAAGTCACTTCCCCACAAAATGAGCTAACACGATGGCTTTCAACACCTTCCATATGCTGATGGCTCCCAAGT
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Task1_train_14056
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Mutation context: Chromosome 10, Gene PSAP (prosaposin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Krabbe disease due to saposin A deficiency
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GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGAACGCCCTACTCCAGCCTCCACAGCCCAACTCCCAGGCCCAGAACATCCCCAATGCACAAGGACACAAGGCTCACTATGTCGGCCATGCCAGGGCCCAGGCGGTCACACTCCTCCTTGACATGTTCCACCAAGGCCTGGACAAAGGTGGAGTTGGTCCGTACAGCAGTCTGGATGTCAGTCACCATCTGAATGCAGTCCTGGCAAACGTCCCCATTATCCTACAGAAGAGGCAGTTAGGTTTGCAACTTAAGAGGACTCAAATTCCTAGGAAAACGTCCTTATATACTCAGGGCTGCAGCATTAGGGGGCACTTGCTGACCAGTTCCTAAGATGCTTTACAGGCTCTCAAATTACTGATAGGCTTAAAATCGATTAAGTGTTCATTATAGTAACAGTATGGTATAAAAAGGGGGTTTAGTATAAATAAAAAGGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCGCTTGAACCCAGGAGTTTGAGACCAGTCTGAGCAACATGGCAAAACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCATTTGTACTCCCAGCTACTTAGGAGGCTAAGGTGGGAGGATCACTTAAGCCTCAGAGGTTGAGGCTGCAGTGAACCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAACGAGACCCTGTCTCAAAAATAAAAGAAGTAAATTTTTTTAAAGGGGATTAATCTTTGCATATTTTAAATATCCCATTCTTTAGAAACTTCATGGTACAACCATTTAAAGGCTGGCTCATGTGACTGCAGAGTCACGCACAGGGATAAGCCCCAGTTTAAGAACCACACGTGCCCTCTCTGTCCCTTTGGTCTCTCATCTCCAGTGCAACCAAAAATGGGTCCTCAGTGGCCAGCCCGTTGTCTTACCTTTGGCTGGGGCTTGCTGCGGGGGCCGTCCTGAGGGTAGAGGAGGAGAGGGATGTTGGCCATGAAGGGGGCCACCACCTCAGTCATGTCCAGCTCTGGGATCTTATTGGACTCCAGCTGCTTCTGGTGATTCAGCTCTGCTAGGTGCTTCTGGAGAGACTCGCAGAGGTTGAGAGCAGAGCACACCTCCCCAGGACGGCTCTGGTGGGATGGAAAGAAGTCCTGCTGAAAATCCTCTCCCCAGGGGAAAATAAGACAGGCCATCTAGTGCCTCTGAATTAGTCCCTCTCTTTAAATCCCTTAAAAGAAACACAAACCTGTTGTCTAAATTCAAACTGCTCAGCATACCAAGAATGACAAAATTACCCAATCCGAGTGCCTAACCACACAGTGGCCCCTAAGCTTCCTCAATTCTCCTATTAGGCAATGATGCAGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAACTGTAGCTGCCATAGTCCCCACGTGTCATGTGAGGGACCTAGTGGGAGGTAACTGAATCACGGGGGCGGGTTTTCCCATGCTGTTTAGTGATAGTAAGTCTCATGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACATGCTCTCTTGCCTGCTGCCATGTAAGATGTGGCTTTGCTCCTCCTTCACCTTCCACCATGATTTTGAGGCCCCCCCAGCCACGTGGAACTGTGAGTCCATTAAACCTTTTTTTCTTTTTTTATAAATTACCCAGTCTCGGGTATGTCTTTATTAGTAGCATGAAAACGGACTAATACAGGCTTCCTAAATGTTACCTCTTTCCCCTCAGCTCTTCTTTAAAGGAACAGGAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGTGAGGCCGAGGCGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAATGTGGTAAAACCCCATCTCTACAAAAATACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGATGGGAGAATCACTTGAACCCGGAAGGCAGAGGTGCTGTCAGTCAAGATCGCGCCATTGCACTCCAGGCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAAATAAATAAATAAATAAATAAAGGAATAGGAGCTTCTTGCTGGAGGAGAAGAGTCAGCAATTCTAAGTCACTTCCCCACAAAATGAGCTAACACGATGGCTTTCAACACCTTCCATATGCTGATGGCTCCCAAGT
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GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGAACGCCCTACTCCAGCCTCCACAGCCCAACTCCCAGGCCCAGAACATCCCCAATGCACAAGGACACAAGGCTCACTATGTCGGCCATGCCAGGGCCCAGGCGGTCACACTCCTCCTTGACATGTTCCACCAAGGCCTGGACAAAGGTGGATTTGGTCCGTACAGCAGTCTGGATGTCAGTCACCATCTGAATGCAGTCCTGGCAAACGTCCCCATTATCCTACAGAAGAGGCAGTTAGGTTTGCAACTTAAGAGGACTCAAATTCCTAGGAAAACGTCCTTATATACTCAGGGCTGCAGCATTAGGGGGCACTTGCTGACCAGTTCCTAAGATGCTTTACAGGCTCTCAAATTACTGATAGGCTTAAAATCGATTAAGTGTTCATTATAGTAACAGTATGGTATAAAAAGGGGGTTTAGTATAAATAAAAAGGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCGCTTGAACCCAGGAGTTTGAGACCAGTCTGAGCAACATGGCAAAACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCATTTGTACTCCCAGCTACTTAGGAGGCTAAGGTGGGAGGATCACTTAAGCCTCAGAGGTTGAGGCTGCAGTGAACCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAACGAGACCCTGTCTCAAAAATAAAAGAAGTAAATTTTTTTAAAGGGGATTAATCTTTGCATATTTTAAATATCCCATTCTTTAGAAACTTCATGGTACAACCATTTAAAGGCTGGCTCATGTGACTGCAGAGTCACGCACAGGGATAAGCCCCAGTTTAAGAACCACACGTGCCCTCTCTGTCCCTTTGGTCTCTCATCTCCAGTGCAACCAAAAATGGGTCCTCAGTGGCCAGCCCGTTGTCTTACCTTTGGCTGGGGCTTGCTGCGGGGGCCGTCCTGAGGGTAGAGGAGGAGAGGGATGTTGGCCATGAAGGGGGCCACCACCTCAGTCATGTCCAGCTCTGGGATCTTATTGGACTCCAGCTGCTTCTGGTGATTCAGCTCTGCTAGGTGCTTCTGGAGAGACTCGCAGAGGTTGAGAGCAGAGCACACCTCCCCAGGACGGCTCTGGTGGGATGGAAAGAAGTCCTGCTGAAAATCCTCTCCCCAGGGGAAAATAAGACAGGCCATCTAGTGCCTCTGAATTAGTCCCTCTCTTTAAATCCCTTAAAAGAAACACAAACCTGTTGTCTAAATTCAAACTGCTCAGCATACCAAGAATGACAAAATTACCCAATCCGAGTGCCTAACCACACAGTGGCCCCTAAGCTTCCTCAATTCTCCTATTAGGCAATGATGCAGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAACTGTAGCTGCCATAGTCCCCACGTGTCATGTGAGGGACCTAGTGGGAGGTAACTGAATCACGGGGGCGGGTTTTCCCATGCTGTTTAGTGATAGTAAGTCTCATGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACATGCTCTCTTGCCTGCTGCCATGTAAGATGTGGCTTTGCTCCTCCTTCACCTTCCACCATGATTTTGAGGCCCCCCCAGCCACGTGGAACTGTGAGTCCATTAAACCTTTTTTTCTTTTTTTATAAATTACCCAGTCTCGGGTATGTCTTTATTAGTAGCATGAAAACGGACTAATACAGGCTTCCTAAATGTTACCTCTTTCCCCTCAGCTCTTCTTTAAAGGAACAGGAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGTGAGGCCGAGGCGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAATGTGGTAAAACCCCATCTCTACAAAAATACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGATGGGAGAATCACTTGAACCCGGAAGGCAGAGGTGCTGTCAGTCAAGATCGCGCCATTGCACTCCAGGCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAAATAAATAAATAAATAAATAAAGGAATAGGAGCTTCTTGCTGGAGGAGAAGAGTCAGCAATTCTAAGTCACTTCCCCACAAAATGAGCTAACACGATGGCTTTCAACACCTTCCATATGCTGATGGCTCCCAAGT
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Task1_train_14057
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This variant affects gene PSAP (prosaposin) located on Chromosome 10. Evaluate its biological effect and specify any disease association.
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Pathogenic; Sphingolipid activator protein 1 deficiency
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GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGAACGCCCTACTCCAGCCTCCACAGCCCAACTCCCAGGCCCAGAACATCCCCAATGCACAAGGACACAAGGCTCACTATGTCGGCCATGCCAGGGCCCAGGCGGTCACACTCCTCCTTGACATGTTCCACCAAGGCCTGGACAAAGGTGGAGTTGGTCCGTACAGCAGTCTGGATGTCAGTCACCATCTGAATGCAGTCCTGGCAAACGTCCCCATTATCCTACAGAAGAGGCAGTTAGGTTTGCAACTTAAGAGGACTCAAATTCCTAGGAAAACGTCCTTATATACTCAGGGCTGCAGCATTAGGGGGCACTTGCTGACCAGTTCCTAAGATGCTTTACAGGCTCTCAAATTACTGATAGGCTTAAAATCGATTAAGTGTTCATTATAGTAACAGTATGGTATAAAAAGGGGGTTTAGTATAAATAAAAAGGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCGCTTGAACCCAGGAGTTTGAGACCAGTCTGAGCAACATGGCAAAACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCATTTGTACTCCCAGCTACTTAGGAGGCTAAGGTGGGAGGATCACTTAAGCCTCAGAGGTTGAGGCTGCAGTGAACCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAACGAGACCCTGTCTCAAAAATAAAAGAAGTAAATTTTTTTAAAGGGGATTAATCTTTGCATATTTTAAATATCCCATTCTTTAGAAACTTCATGGTACAACCATTTAAAGGCTGGCTCATGTGACTGCAGAGTCACGCACAGGGATAAGCCCCAGTTTAAGAACCACACGTGCCCTCTCTGTCCCTTTGGTCTCTCATCTCCAGTGCAACCAAAAATGGGTCCTCAGTGGCCAGCCCGTTGTCTTACCTTTGGCTGGGGCTTGCTGCGGGGGCCGTCCTGAGGGTAGAGGAGGAGAGGGATGTTGGCCATGAAGGGGGCCACCACCTCAGTCATGTCCAGCTCTGGGATCTTATTGGACTCCAGCTGCTTCTGGTGATTCAGCTCTGCTAGGTGCTTCTGGAGAGACTCGCAGAGGTTGAGAGCAGAGCACACCTCCCCAGGACGGCTCTGGTGGGATGGAAAGAAGTCCTGCTGAAAATCCTCTCCCCAGGGGAAAATAAGACAGGCCATCTAGTGCCTCTGAATTAGTCCCTCTCTTTAAATCCCTTAAAAGAAACACAAACCTGTTGTCTAAATTCAAACTGCTCAGCATACCAAGAATGACAAAATTACCCAATCCGAGTGCCTAACCACACAGTGGCCCCTAAGCTTCCTCAATTCTCCTATTAGGCAATGATGCAGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAACTGTAGCTGCCATAGTCCCCACGTGTCATGTGAGGGACCTAGTGGGAGGTAACTGAATCACGGGGGCGGGTTTTCCCATGCTGTTTAGTGATAGTAAGTCTCATGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACATGCTCTCTTGCCTGCTGCCATGTAAGATGTGGCTTTGCTCCTCCTTCACCTTCCACCATGATTTTGAGGCCCCCCCAGCCACGTGGAACTGTGAGTCCATTAAACCTTTTTTTCTTTTTTTATAAATTACCCAGTCTCGGGTATGTCTTTATTAGTAGCATGAAAACGGACTAATACAGGCTTCCTAAATGTTACCTCTTTCCCCTCAGCTCTTCTTTAAAGGAACAGGAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGTGAGGCCGAGGCGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAATGTGGTAAAACCCCATCTCTACAAAAATACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGATGGGAGAATCACTTGAACCCGGAAGGCAGAGGTGCTGTCAGTCAAGATCGCGCCATTGCACTCCAGGCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAAATAAATAAATAAATAAATAAAGGAATAGGAGCTTCTTGCTGGAGGAGAAGAGTCAGCAATTCTAAGTCACTTCCCCACAAAATGAGCTAACACGATGGCTTTCAACACCTTCCATATGCTGATGGCTCCCAAGT
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GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGAACGCCCTACTCCAGCCTCCACAGCCCAACTCCCAGGCCCAGAACATCCCCAATGCACAAGGACACAAGGCTCACTATGTCGGCCATGCCAGGGCCCAGGCGGTCACACTCCTCCTTGACATGTTCCACCAAGGCCTGGACAAAGGTGGATTTGGTCCGTACAGCAGTCTGGATGTCAGTCACCATCTGAATGCAGTCCTGGCAAACGTCCCCATTATCCTACAGAAGAGGCAGTTAGGTTTGCAACTTAAGAGGACTCAAATTCCTAGGAAAACGTCCTTATATACTCAGGGCTGCAGCATTAGGGGGCACTTGCTGACCAGTTCCTAAGATGCTTTACAGGCTCTCAAATTACTGATAGGCTTAAAATCGATTAAGTGTTCATTATAGTAACAGTATGGTATAAAAAGGGGGTTTAGTATAAATAAAAAGGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCGCTTGAACCCAGGAGTTTGAGACCAGTCTGAGCAACATGGCAAAACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCATTTGTACTCCCAGCTACTTAGGAGGCTAAGGTGGGAGGATCACTTAAGCCTCAGAGGTTGAGGCTGCAGTGAACCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAACGAGACCCTGTCTCAAAAATAAAAGAAGTAAATTTTTTTAAAGGGGATTAATCTTTGCATATTTTAAATATCCCATTCTTTAGAAACTTCATGGTACAACCATTTAAAGGCTGGCTCATGTGACTGCAGAGTCACGCACAGGGATAAGCCCCAGTTTAAGAACCACACGTGCCCTCTCTGTCCCTTTGGTCTCTCATCTCCAGTGCAACCAAAAATGGGTCCTCAGTGGCCAGCCCGTTGTCTTACCTTTGGCTGGGGCTTGCTGCGGGGGCCGTCCTGAGGGTAGAGGAGGAGAGGGATGTTGGCCATGAAGGGGGCCACCACCTCAGTCATGTCCAGCTCTGGGATCTTATTGGACTCCAGCTGCTTCTGGTGATTCAGCTCTGCTAGGTGCTTCTGGAGAGACTCGCAGAGGTTGAGAGCAGAGCACACCTCCCCAGGACGGCTCTGGTGGGATGGAAAGAAGTCCTGCTGAAAATCCTCTCCCCAGGGGAAAATAAGACAGGCCATCTAGTGCCTCTGAATTAGTCCCTCTCTTTAAATCCCTTAAAAGAAACACAAACCTGTTGTCTAAATTCAAACTGCTCAGCATACCAAGAATGACAAAATTACCCAATCCGAGTGCCTAACCACACAGTGGCCCCTAAGCTTCCTCAATTCTCCTATTAGGCAATGATGCAGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAACTGTAGCTGCCATAGTCCCCACGTGTCATGTGAGGGACCTAGTGGGAGGTAACTGAATCACGGGGGCGGGTTTTCCCATGCTGTTTAGTGATAGTAAGTCTCATGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACATGCTCTCTTGCCTGCTGCCATGTAAGATGTGGCTTTGCTCCTCCTTCACCTTCCACCATGATTTTGAGGCCCCCCCAGCCACGTGGAACTGTGAGTCCATTAAACCTTTTTTTCTTTTTTTATAAATTACCCAGTCTCGGGTATGTCTTTATTAGTAGCATGAAAACGGACTAATACAGGCTTCCTAAATGTTACCTCTTTCCCCTCAGCTCTTCTTTAAAGGAACAGGAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGTGAGGCCGAGGCGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAATGTGGTAAAACCCCATCTCTACAAAAATACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGATGGGAGAATCACTTGAACCCGGAAGGCAGAGGTGCTGTCAGTCAAGATCGCGCCATTGCACTCCAGGCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAAATAAATAAATAAATAAATAAAGGAATAGGAGCTTCTTGCTGGAGGAGAAGAGTCAGCAATTCTAAGTCACTTCCCCACAAAATGAGCTAACACGATGGCTTTCAACACCTTCCATATGCTGATGGCTCCCAAGT
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Task1_train_14058
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Located on Chromosome 10, this mutation impacts PSAP (prosaposin). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Gaucher disease due to saposin C deficiency
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GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGAACGCCCTACTCCAGCCTCCACAGCCCAACTCCCAGGCCCAGAACATCCCCAATGCACAAGGACACAAGGCTCACTATGTCGGCCATGCCAGGGCCCAGGCGGTCACACTCCTCCTTGACATGTTCCACCAAGGCCTGGACAAAGGTGGAGTTGGTCCGTACAGCAGTCTGGATGTCAGTCACCATCTGAATGCAGTCCTGGCAAACGTCCCCATTATCCTACAGAAGAGGCAGTTAGGTTTGCAACTTAAGAGGACTCAAATTCCTAGGAAAACGTCCTTATATACTCAGGGCTGCAGCATTAGGGGGCACTTGCTGACCAGTTCCTAAGATGCTTTACAGGCTCTCAAATTACTGATAGGCTTAAAATCGATTAAGTGTTCATTATAGTAACAGTATGGTATAAAAAGGGGGTTTAGTATAAATAAAAAGGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCGCTTGAACCCAGGAGTTTGAGACCAGTCTGAGCAACATGGCAAAACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCATTTGTACTCCCAGCTACTTAGGAGGCTAAGGTGGGAGGATCACTTAAGCCTCAGAGGTTGAGGCTGCAGTGAACCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAACGAGACCCTGTCTCAAAAATAAAAGAAGTAAATTTTTTTAAAGGGGATTAATCTTTGCATATTTTAAATATCCCATTCTTTAGAAACTTCATGGTACAACCATTTAAAGGCTGGCTCATGTGACTGCAGAGTCACGCACAGGGATAAGCCCCAGTTTAAGAACCACACGTGCCCTCTCTGTCCCTTTGGTCTCTCATCTCCAGTGCAACCAAAAATGGGTCCTCAGTGGCCAGCCCGTTGTCTTACCTTTGGCTGGGGCTTGCTGCGGGGGCCGTCCTGAGGGTAGAGGAGGAGAGGGATGTTGGCCATGAAGGGGGCCACCACCTCAGTCATGTCCAGCTCTGGGATCTTATTGGACTCCAGCTGCTTCTGGTGATTCAGCTCTGCTAGGTGCTTCTGGAGAGACTCGCAGAGGTTGAGAGCAGAGCACACCTCCCCAGGACGGCTCTGGTGGGATGGAAAGAAGTCCTGCTGAAAATCCTCTCCCCAGGGGAAAATAAGACAGGCCATCTAGTGCCTCTGAATTAGTCCCTCTCTTTAAATCCCTTAAAAGAAACACAAACCTGTTGTCTAAATTCAAACTGCTCAGCATACCAAGAATGACAAAATTACCCAATCCGAGTGCCTAACCACACAGTGGCCCCTAAGCTTCCTCAATTCTCCTATTAGGCAATGATGCAGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAACTGTAGCTGCCATAGTCCCCACGTGTCATGTGAGGGACCTAGTGGGAGGTAACTGAATCACGGGGGCGGGTTTTCCCATGCTGTTTAGTGATAGTAAGTCTCATGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACATGCTCTCTTGCCTGCTGCCATGTAAGATGTGGCTTTGCTCCTCCTTCACCTTCCACCATGATTTTGAGGCCCCCCCAGCCACGTGGAACTGTGAGTCCATTAAACCTTTTTTTCTTTTTTTATAAATTACCCAGTCTCGGGTATGTCTTTATTAGTAGCATGAAAACGGACTAATACAGGCTTCCTAAATGTTACCTCTTTCCCCTCAGCTCTTCTTTAAAGGAACAGGAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGTGAGGCCGAGGCGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAATGTGGTAAAACCCCATCTCTACAAAAATACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGATGGGAGAATCACTTGAACCCGGAAGGCAGAGGTGCTGTCAGTCAAGATCGCGCCATTGCACTCCAGGCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAAATAAATAAATAAATAAATAAAGGAATAGGAGCTTCTTGCTGGAGGAGAAGAGTCAGCAATTCTAAGTCACTTCCCCACAAAATGAGCTAACACGATGGCTTTCAACACCTTCCATATGCTGATGGCTCCCAAGT
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GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGAACGCCCTACTCCAGCCTCCACAGCCCAACTCCCAGGCCCAGAACATCCCCAATGCACAAGGACACAAGGCTCACTATGTCGGCCATGCCAGGGCCCAGGCGGTCACACTCCTCCTTGACATGTTCCACCAAGGCCTGGACAAAGGTGGATTTGGTCCGTACAGCAGTCTGGATGTCAGTCACCATCTGAATGCAGTCCTGGCAAACGTCCCCATTATCCTACAGAAGAGGCAGTTAGGTTTGCAACTTAAGAGGACTCAAATTCCTAGGAAAACGTCCTTATATACTCAGGGCTGCAGCATTAGGGGGCACTTGCTGACCAGTTCCTAAGATGCTTTACAGGCTCTCAAATTACTGATAGGCTTAAAATCGATTAAGTGTTCATTATAGTAACAGTATGGTATAAAAAGGGGGTTTAGTATAAATAAAAAGGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCGCTTGAACCCAGGAGTTTGAGACCAGTCTGAGCAACATGGCAAAACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCATTTGTACTCCCAGCTACTTAGGAGGCTAAGGTGGGAGGATCACTTAAGCCTCAGAGGTTGAGGCTGCAGTGAACCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAACGAGACCCTGTCTCAAAAATAAAAGAAGTAAATTTTTTTAAAGGGGATTAATCTTTGCATATTTTAAATATCCCATTCTTTAGAAACTTCATGGTACAACCATTTAAAGGCTGGCTCATGTGACTGCAGAGTCACGCACAGGGATAAGCCCCAGTTTAAGAACCACACGTGCCCTCTCTGTCCCTTTGGTCTCTCATCTCCAGTGCAACCAAAAATGGGTCCTCAGTGGCCAGCCCGTTGTCTTACCTTTGGCTGGGGCTTGCTGCGGGGGCCGTCCTGAGGGTAGAGGAGGAGAGGGATGTTGGCCATGAAGGGGGCCACCACCTCAGTCATGTCCAGCTCTGGGATCTTATTGGACTCCAGCTGCTTCTGGTGATTCAGCTCTGCTAGGTGCTTCTGGAGAGACTCGCAGAGGTTGAGAGCAGAGCACACCTCCCCAGGACGGCTCTGGTGGGATGGAAAGAAGTCCTGCTGAAAATCCTCTCCCCAGGGGAAAATAAGACAGGCCATCTAGTGCCTCTGAATTAGTCCCTCTCTTTAAATCCCTTAAAAGAAACACAAACCTGTTGTCTAAATTCAAACTGCTCAGCATACCAAGAATGACAAAATTACCCAATCCGAGTGCCTAACCACACAGTGGCCCCTAAGCTTCCTCAATTCTCCTATTAGGCAATGATGCAGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAACTGTAGCTGCCATAGTCCCCACGTGTCATGTGAGGGACCTAGTGGGAGGTAACTGAATCACGGGGGCGGGTTTTCCCATGCTGTTTAGTGATAGTAAGTCTCATGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACATGCTCTCTTGCCTGCTGCCATGTAAGATGTGGCTTTGCTCCTCCTTCACCTTCCACCATGATTTTGAGGCCCCCCCAGCCACGTGGAACTGTGAGTCCATTAAACCTTTTTTTCTTTTTTTATAAATTACCCAGTCTCGGGTATGTCTTTATTAGTAGCATGAAAACGGACTAATACAGGCTTCCTAAATGTTACCTCTTTCCCCTCAGCTCTTCTTTAAAGGAACAGGAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGTGAGGCCGAGGCGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAATGTGGTAAAACCCCATCTCTACAAAAATACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGATGGGAGAATCACTTGAACCCGGAAGGCAGAGGTGCTGTCAGTCAAGATCGCGCCATTGCACTCCAGGCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAAATAAATAAATAAATAAATAAAGGAATAGGAGCTTCTTGCTGGAGGAGAAGAGTCAGCAATTCTAAGTCACTTCCCCACAAAATGAGCTAACACGATGGCTTTCAACACCTTCCATATGCTGATGGCTCCCAAGT
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Task1_train_14059
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Here is a variant affecting PSAP (prosaposin) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Parkinson disease 24, autosomal dominant, susceptibility to
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GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGAACGCCCTACTCCAGCCTCCACAGCCCAACTCCCAGGCCCAGAACATCCCCAATGCACAAGGACACAAGGCTCACTATGTCGGCCATGCCAGGGCCCAGGCGGTCACACTCCTCCTTGACATGTTCCACCAAGGCCTGGACAAAGGTGGAGTTGGTCCGTACAGCAGTCTGGATGTCAGTCACCATCTGAATGCAGTCCTGGCAAACGTCCCCATTATCCTACAGAAGAGGCAGTTAGGTTTGCAACTTAAGAGGACTCAAATTCCTAGGAAAACGTCCTTATATACTCAGGGCTGCAGCATTAGGGGGCACTTGCTGACCAGTTCCTAAGATGCTTTACAGGCTCTCAAATTACTGATAGGCTTAAAATCGATTAAGTGTTCATTATAGTAACAGTATGGTATAAAAAGGGGGTTTAGTATAAATAAAAAGGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCGCTTGAACCCAGGAGTTTGAGACCAGTCTGAGCAACATGGCAAAACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCATTTGTACTCCCAGCTACTTAGGAGGCTAAGGTGGGAGGATCACTTAAGCCTCAGAGGTTGAGGCTGCAGTGAACCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAACGAGACCCTGTCTCAAAAATAAAAGAAGTAAATTTTTTTAAAGGGGATTAATCTTTGCATATTTTAAATATCCCATTCTTTAGAAACTTCATGGTACAACCATTTAAAGGCTGGCTCATGTGACTGCAGAGTCACGCACAGGGATAAGCCCCAGTTTAAGAACCACACGTGCCCTCTCTGTCCCTTTGGTCTCTCATCTCCAGTGCAACCAAAAATGGGTCCTCAGTGGCCAGCCCGTTGTCTTACCTTTGGCTGGGGCTTGCTGCGGGGGCCGTCCTGAGGGTAGAGGAGGAGAGGGATGTTGGCCATGAAGGGGGCCACCACCTCAGTCATGTCCAGCTCTGGGATCTTATTGGACTCCAGCTGCTTCTGGTGATTCAGCTCTGCTAGGTGCTTCTGGAGAGACTCGCAGAGGTTGAGAGCAGAGCACACCTCCCCAGGACGGCTCTGGTGGGATGGAAAGAAGTCCTGCTGAAAATCCTCTCCCCAGGGGAAAATAAGACAGGCCATCTAGTGCCTCTGAATTAGTCCCTCTCTTTAAATCCCTTAAAAGAAACACAAACCTGTTGTCTAAATTCAAACTGCTCAGCATACCAAGAATGACAAAATTACCCAATCCGAGTGCCTAACCACACAGTGGCCCCTAAGCTTCCTCAATTCTCCTATTAGGCAATGATGCAGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAACTGTAGCTGCCATAGTCCCCACGTGTCATGTGAGGGACCTAGTGGGAGGTAACTGAATCACGGGGGCGGGTTTTCCCATGCTGTTTAGTGATAGTAAGTCTCATGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACATGCTCTCTTGCCTGCTGCCATGTAAGATGTGGCTTTGCTCCTCCTTCACCTTCCACCATGATTTTGAGGCCCCCCCAGCCACGTGGAACTGTGAGTCCATTAAACCTTTTTTTCTTTTTTTATAAATTACCCAGTCTCGGGTATGTCTTTATTAGTAGCATGAAAACGGACTAATACAGGCTTCCTAAATGTTACCTCTTTCCCCTCAGCTCTTCTTTAAAGGAACAGGAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGTGAGGCCGAGGCGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAATGTGGTAAAACCCCATCTCTACAAAAATACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGATGGGAGAATCACTTGAACCCGGAAGGCAGAGGTGCTGTCAGTCAAGATCGCGCCATTGCACTCCAGGCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAAATAAATAAATAAATAAATAAAGGAATAGGAGCTTCTTGCTGGAGGAGAAGAGTCAGCAATTCTAAGTCACTTCCCCACAAAATGAGCTAACACGATGGCTTTCAACACCTTCCATATGCTGATGGCTCCCAAGT
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GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGAACGCCCTACTCCAGCCTCCACAGCCCAACTCCCAGGCCCAGAACATCCCCAATGCACAAGGACACAAGGCTCACTATGTCGGCCATGCCAGGGCCCAGGCGGTCACACTCCTCCTTGACATGTTCCACCAAGGCCTGGACAAAGGTGGATTTGGTCCGTACAGCAGTCTGGATGTCAGTCACCATCTGAATGCAGTCCTGGCAAACGTCCCCATTATCCTACAGAAGAGGCAGTTAGGTTTGCAACTTAAGAGGACTCAAATTCCTAGGAAAACGTCCTTATATACTCAGGGCTGCAGCATTAGGGGGCACTTGCTGACCAGTTCCTAAGATGCTTTACAGGCTCTCAAATTACTGATAGGCTTAAAATCGATTAAGTGTTCATTATAGTAACAGTATGGTATAAAAAGGGGGTTTAGTATAAATAAAAAGGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCGCTTGAACCCAGGAGTTTGAGACCAGTCTGAGCAACATGGCAAAACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCATTTGTACTCCCAGCTACTTAGGAGGCTAAGGTGGGAGGATCACTTAAGCCTCAGAGGTTGAGGCTGCAGTGAACCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAACGAGACCCTGTCTCAAAAATAAAAGAAGTAAATTTTTTTAAAGGGGATTAATCTTTGCATATTTTAAATATCCCATTCTTTAGAAACTTCATGGTACAACCATTTAAAGGCTGGCTCATGTGACTGCAGAGTCACGCACAGGGATAAGCCCCAGTTTAAGAACCACACGTGCCCTCTCTGTCCCTTTGGTCTCTCATCTCCAGTGCAACCAAAAATGGGTCCTCAGTGGCCAGCCCGTTGTCTTACCTTTGGCTGGGGCTTGCTGCGGGGGCCGTCCTGAGGGTAGAGGAGGAGAGGGATGTTGGCCATGAAGGGGGCCACCACCTCAGTCATGTCCAGCTCTGGGATCTTATTGGACTCCAGCTGCTTCTGGTGATTCAGCTCTGCTAGGTGCTTCTGGAGAGACTCGCAGAGGTTGAGAGCAGAGCACACCTCCCCAGGACGGCTCTGGTGGGATGGAAAGAAGTCCTGCTGAAAATCCTCTCCCCAGGGGAAAATAAGACAGGCCATCTAGTGCCTCTGAATTAGTCCCTCTCTTTAAATCCCTTAAAAGAAACACAAACCTGTTGTCTAAATTCAAACTGCTCAGCATACCAAGAATGACAAAATTACCCAATCCGAGTGCCTAACCACACAGTGGCCCCTAAGCTTCCTCAATTCTCCTATTAGGCAATGATGCAGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAACTGTAGCTGCCATAGTCCCCACGTGTCATGTGAGGGACCTAGTGGGAGGTAACTGAATCACGGGGGCGGGTTTTCCCATGCTGTTTAGTGATAGTAAGTCTCATGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACATGCTCTCTTGCCTGCTGCCATGTAAGATGTGGCTTTGCTCCTCCTTCACCTTCCACCATGATTTTGAGGCCCCCCCAGCCACGTGGAACTGTGAGTCCATTAAACCTTTTTTTCTTTTTTTATAAATTACCCAGTCTCGGGTATGTCTTTATTAGTAGCATGAAAACGGACTAATACAGGCTTCCTAAATGTTACCTCTTTCCCCTCAGCTCTTCTTTAAAGGAACAGGAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGTGAGGCCGAGGCGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAATGTGGTAAAACCCCATCTCTACAAAAATACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGATGGGAGAATCACTTGAACCCGGAAGGCAGAGGTGCTGTCAGTCAAGATCGCGCCATTGCACTCCAGGCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAAATAAATAAATAAATAAATAAAGGAATAGGAGCTTCTTGCTGGAGGAGAAGAGTCAGCAATTCTAAGTCACTTCCCCACAAAATGAGCTAACACGATGGCTTTCAACACCTTCCATATGCTGATGGCTCCCAAGT
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Task1_train_14060
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A variant was discovered in gene PSAP (prosaposin), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Combined PSAP deficiency
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GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGAACGCCCTACTCCAGCCTCCACAGCCCAACTCCCAGGCCCAGAACATCCCCAATGCACAAGGACACAAGGCTCACTATGTCGGCCATGCCAGGGCCCAGGCGGTCACACTCCTCCTTGACATGTTCCACCAAGGCCTGGACAAAGGTGGAGTTGGTCCGTACAGCAGTCTGGATGTCAGTCACCATCTGAATGCAGTCCTGGCAAACGTCCCCATTATCCTACAGAAGAGGCAGTTAGGTTTGCAACTTAAGAGGACTCAAATTCCTAGGAAAACGTCCTTATATACTCAGGGCTGCAGCATTAGGGGGCACTTGCTGACCAGTTCCTAAGATGCTTTACAGGCTCTCAAATTACTGATAGGCTTAAAATCGATTAAGTGTTCATTATAGTAACAGTATGGTATAAAAAGGGGGTTTAGTATAAATAAAAAGGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCGCTTGAACCCAGGAGTTTGAGACCAGTCTGAGCAACATGGCAAAACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCATTTGTACTCCCAGCTACTTAGGAGGCTAAGGTGGGAGGATCACTTAAGCCTCAGAGGTTGAGGCTGCAGTGAACCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAACGAGACCCTGTCTCAAAAATAAAAGAAGTAAATTTTTTTAAAGGGGATTAATCTTTGCATATTTTAAATATCCCATTCTTTAGAAACTTCATGGTACAACCATTTAAAGGCTGGCTCATGTGACTGCAGAGTCACGCACAGGGATAAGCCCCAGTTTAAGAACCACACGTGCCCTCTCTGTCCCTTTGGTCTCTCATCTCCAGTGCAACCAAAAATGGGTCCTCAGTGGCCAGCCCGTTGTCTTACCTTTGGCTGGGGCTTGCTGCGGGGGCCGTCCTGAGGGTAGAGGAGGAGAGGGATGTTGGCCATGAAGGGGGCCACCACCTCAGTCATGTCCAGCTCTGGGATCTTATTGGACTCCAGCTGCTTCTGGTGATTCAGCTCTGCTAGGTGCTTCTGGAGAGACTCGCAGAGGTTGAGAGCAGAGCACACCTCCCCAGGACGGCTCTGGTGGGATGGAAAGAAGTCCTGCTGAAAATCCTCTCCCCAGGGGAAAATAAGACAGGCCATCTAGTGCCTCTGAATTAGTCCCTCTCTTTAAATCCCTTAAAAGAAACACAAACCTGTTGTCTAAATTCAAACTGCTCAGCATACCAAGAATGACAAAATTACCCAATCCGAGTGCCTAACCACACAGTGGCCCCTAAGCTTCCTCAATTCTCCTATTAGGCAATGATGCAGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAACTGTAGCTGCCATAGTCCCCACGTGTCATGTGAGGGACCTAGTGGGAGGTAACTGAATCACGGGGGCGGGTTTTCCCATGCTGTTTAGTGATAGTAAGTCTCATGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACATGCTCTCTTGCCTGCTGCCATGTAAGATGTGGCTTTGCTCCTCCTTCACCTTCCACCATGATTTTGAGGCCCCCCCAGCCACGTGGAACTGTGAGTCCATTAAACCTTTTTTTCTTTTTTTATAAATTACCCAGTCTCGGGTATGTCTTTATTAGTAGCATGAAAACGGACTAATACAGGCTTCCTAAATGTTACCTCTTTCCCCTCAGCTCTTCTTTAAAGGAACAGGAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGTGAGGCCGAGGCGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAATGTGGTAAAACCCCATCTCTACAAAAATACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGATGGGAGAATCACTTGAACCCGGAAGGCAGAGGTGCTGTCAGTCAAGATCGCGCCATTGCACTCCAGGCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAAATAAATAAATAAATAAATAAAGGAATAGGAGCTTCTTGCTGGAGGAGAAGAGTCAGCAATTCTAAGTCACTTCCCCACAAAATGAGCTAACACGATGGCTTTCAACACCTTCCATATGCTGATGGCTCCCAAGT
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GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGAACGCCCTACTCCAGCCTCCACAGCCCAACTCCCAGGCCCAGAACATCCCCAATGCACAAGGACACAAGGCTCACTATGTCGGCCATGCCAGGGCCCAGGCGGTCACACTCCTCCTTGACATGTTCCACCAAGGCCTGGACAAAGGTGGATTTGGTCCGTACAGCAGTCTGGATGTCAGTCACCATCTGAATGCAGTCCTGGCAAACGTCCCCATTATCCTACAGAAGAGGCAGTTAGGTTTGCAACTTAAGAGGACTCAAATTCCTAGGAAAACGTCCTTATATACTCAGGGCTGCAGCATTAGGGGGCACTTGCTGACCAGTTCCTAAGATGCTTTACAGGCTCTCAAATTACTGATAGGCTTAAAATCGATTAAGTGTTCATTATAGTAACAGTATGGTATAAAAAGGGGGTTTAGTATAAATAAAAAGGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCGCTTGAACCCAGGAGTTTGAGACCAGTCTGAGCAACATGGCAAAACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCATTTGTACTCCCAGCTACTTAGGAGGCTAAGGTGGGAGGATCACTTAAGCCTCAGAGGTTGAGGCTGCAGTGAACCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAACGAGACCCTGTCTCAAAAATAAAAGAAGTAAATTTTTTTAAAGGGGATTAATCTTTGCATATTTTAAATATCCCATTCTTTAGAAACTTCATGGTACAACCATTTAAAGGCTGGCTCATGTGACTGCAGAGTCACGCACAGGGATAAGCCCCAGTTTAAGAACCACACGTGCCCTCTCTGTCCCTTTGGTCTCTCATCTCCAGTGCAACCAAAAATGGGTCCTCAGTGGCCAGCCCGTTGTCTTACCTTTGGCTGGGGCTTGCTGCGGGGGCCGTCCTGAGGGTAGAGGAGGAGAGGGATGTTGGCCATGAAGGGGGCCACCACCTCAGTCATGTCCAGCTCTGGGATCTTATTGGACTCCAGCTGCTTCTGGTGATTCAGCTCTGCTAGGTGCTTCTGGAGAGACTCGCAGAGGTTGAGAGCAGAGCACACCTCCCCAGGACGGCTCTGGTGGGATGGAAAGAAGTCCTGCTGAAAATCCTCTCCCCAGGGGAAAATAAGACAGGCCATCTAGTGCCTCTGAATTAGTCCCTCTCTTTAAATCCCTTAAAAGAAACACAAACCTGTTGTCTAAATTCAAACTGCTCAGCATACCAAGAATGACAAAATTACCCAATCCGAGTGCCTAACCACACAGTGGCCCCTAAGCTTCCTCAATTCTCCTATTAGGCAATGATGCAGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAACTGTAGCTGCCATAGTCCCCACGTGTCATGTGAGGGACCTAGTGGGAGGTAACTGAATCACGGGGGCGGGTTTTCCCATGCTGTTTAGTGATAGTAAGTCTCATGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACATGCTCTCTTGCCTGCTGCCATGTAAGATGTGGCTTTGCTCCTCCTTCACCTTCCACCATGATTTTGAGGCCCCCCCAGCCACGTGGAACTGTGAGTCCATTAAACCTTTTTTTCTTTTTTTATAAATTACCCAGTCTCGGGTATGTCTTTATTAGTAGCATGAAAACGGACTAATACAGGCTTCCTAAATGTTACCTCTTTCCCCTCAGCTCTTCTTTAAAGGAACAGGAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGTGAGGCCGAGGCGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAATGTGGTAAAACCCCATCTCTACAAAAATACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGATGGGAGAATCACTTGAACCCGGAAGGCAGAGGTGCTGTCAGTCAAGATCGCGCCATTGCACTCCAGGCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAAATAAATAAATAAATAAATAAAGGAATAGGAGCTTCTTGCTGGAGGAGAAGAGTCAGCAATTCTAAGTCACTTCCCCACAAAATGAGCTAACACGATGGCTTTCAACACCTTCCATATGCTGATGGCTCCCAAGT
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Task1_train_14061
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The following genetic variant occurs in PSAP (prosaposin) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Parkinson disease 24, autosomal dominant, susceptibility to
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GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGAACGCCCTACTCCAGCCTCCACAGCCCAACTCCCAGGCCCAGAACATCCCCAATGCACAAGGACACAAGGCTCACTATGTCGGCCATGCCAGGGCCCAGGCGGTCACACTCCTCCTTGACATGTTCCACCAAGGCCTGGACAAAGGTGGAGTTGGTCCGTACAGCAGTCTGGATGTCAGTCACCATCTGAATGCAGTCCTGGCAAACGTCCCCATTATCCTACAGAAGAGGCAGTTAGGTTTGCAACTTAAGAGGACTCAAATTCCTAGGAAAACGTCCTTATATACTCAGGGCTGCAGCATTAGGGGGCACTTGCTGACCAGTTCCTAAGATGCTTTACAGGCTCTCAAATTACTGATAGGCTTAAAATCGATTAAGTGTTCATTATAGTAACAGTATGGTATAAAAAGGGGGTTTAGTATAAATAAAAAGGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCGCTTGAACCCAGGAGTTTGAGACCAGTCTGAGCAACATGGCAAAACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCATTTGTACTCCCAGCTACTTAGGAGGCTAAGGTGGGAGGATCACTTAAGCCTCAGAGGTTGAGGCTGCAGTGAACCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAACGAGACCCTGTCTCAAAAATAAAAGAAGTAAATTTTTTTAAAGGGGATTAATCTTTGCATATTTTAAATATCCCATTCTTTAGAAACTTCATGGTACAACCATTTAAAGGCTGGCTCATGTGACTGCAGAGTCACGCACAGGGATAAGCCCCAGTTTAAGAACCACACGTGCCCTCTCTGTCCCTTTGGTCTCTCATCTCCAGTGCAACCAAAAATGGGTCCTCAGTGGCCAGCCCGTTGTCTTACCTTTGGCTGGGGCTTGCTGCGGGGGCCGTCCTGAGGGTAGAGGAGGAGAGGGATGTTGGCCATGAAGGGGGCCACCACCTCAGTCATGTCCAGCTCTGGGATCTTATTGGACTCCAGCTGCTTCTGGTGATTCAGCTCTGCTAGGTGCTTCTGGAGAGACTCGCAGAGGTTGAGAGCAGAGCACACCTCCCCAGGACGGCTCTGGTGGGATGGAAAGAAGTCCTGCTGAAAATCCTCTCCCCAGGGGAAAATAAGACAGGCCATCTAGTGCCTCTGAATTAGTCCCTCTCTTTAAATCCCTTAAAAGAAACACAAACCTGTTGTCTAAATTCAAACTGCTCAGCATACCAAGAATGACAAAATTACCCAATCCGAGTGCCTAACCACACAGTGGCCCCTAAGCTTCCTCAATTCTCCTATTAGGCAATGATGCAGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAACTGTAGCTGCCATAGTCCCCACGTGTCATGTGAGGGACCTAGTGGGAGGTAACTGAATCACGGGGGCGGGTTTTCCCATGCTGTTTAGTGATAGTAAGTCTCATGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACATGCTCTCTTGCCTGCTGCCATGTAAGATGTGGCTTTGCTCCTCCTTCACCTTCCACCATGATTTTGAGGCCCCCCCAGCCACGTGGAACTGTGAGTCCATTAAACCTTTTTTTCTTTTTTTATAAATTACCCAGTCTCGGGTATGTCTTTATTAGTAGCATGAAAACGGACTAATACAGGCTTCCTAAATGTTACCTCTTTCCCCTCAGCTCTTCTTTAAAGGAACAGGAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGTGAGGCCGAGGCGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAATGTGGTAAAACCCCATCTCTACAAAAATACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGATGGGAGAATCACTTGAACCCGGAAGGCAGAGGTGCTGTCAGTCAAGATCGCGCCATTGCACTCCAGGCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAAATAAATAAATAAATAAATAAAGGAATAGGAGCTTCTTGCTGGAGGAGAAGAGTCAGCAATTCTAAGTCACTTCCCCACAAAATGAGCTAACACGATGGCTTTCAACACCTTCCATATGCTGATGGCTCCCAAGT
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GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACAATCTAGATACTTCCAGTAGACTCCACAGAATTGCTCCTTGTATTTGGGGAGCTTCTACAGAGAGAGGACCAAAGGTAACATGATACAGCCTCTCAGAGAGGGTTCAACTGGGAAACCTGTTTAAATGGTGTTATGCAAAGACACTTAAAATGAGGCTACAGGATTCCTAGGCTTTCAAAATGAATGAATGTTCACCTGATTAACATTCCTAACGGAAAGTCAGAGAGAAACCCTCAGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCTACTTGGGAGGCTGAGAAGAGGATTGTTTGAGCCCAGGAGGTAAAGGCTGCAGTGAGCTATGATTGTGCCACCGCACTCCAGCCTGGGTGACAGAGCTAAACCCTGTCTCAAGAAAAAAAAAAAAATGGAGAAGGCCTCATCTCCTAGAGCCGGCCACTCCACCCAAAAAGCCTCGCTAGATCCCAAAGGACAGAGTAATTACAACCAGCTTCTCAGCTGCCAGTCTAGCAGGTTTCTTCAGTTGTCAGGTACTAAAAATGGCATTTTGGTTTTACACATCCACCTGAGTGTGATTAATAATCTTGGAATAGGGTCCCAGAATGAAACGATCTAAGTAAGGGGCCAAGAAAATGAGTTTCTGAGCCCACAGGACTAAGGGAGGCTTCCAGGTGAACCATGGTCAGCGACCATGCTTGCTGCAGGAGCACAGCTGGAATTCTCAGTGTCACATACATTAGCCAAGCTTTCAAAAATGGGGTAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAAATACAAAAATAATTAGCCGGGCATGGTGGCGGGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAGAAAAGAAAAGAAAAAAATGGGGTAAAGGCCGGGCGCAGAGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGACAAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTGGAACCCATGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCAGTCTCAAAAAAAAAAAAAAAAAATGGGGGCAAAAAGTATTTCTACAGTGTTCCTAATACACAGGGTGCCTGGCAGGAAACAAAATCTTCCCAGAAACAGTCTCCTACTTTTTGTTCCCAGTTTTGTTACATATCCAGATGCCATTAACCAAAATAGATTCAAGTCTGCACTACCTATTCAAGCTGCTTTCTGGGAAAAAAGAGAAGGATGTTGTCTGAACGCCCTACTCCAGCCTCCACAGCCCAACTCCCAGGCCCAGAACATCCCCAATGCACAAGGACACAAGGCTCACTATGTCGGCCATGCCAGGGCCCAGGCGGTCACACTCCTCCTTGACATGTTCCACCAAGGCCTGGACAAAGGTGGATTTGGTCCGTACAGCAGTCTGGATGTCAGTCACCATCTGAATGCAGTCCTGGCAAACGTCCCCATTATCCTACAGAAGAGGCAGTTAGGTTTGCAACTTAAGAGGACTCAAATTCCTAGGAAAACGTCCTTATATACTCAGGGCTGCAGCATTAGGGGGCACTTGCTGACCAGTTCCTAAGATGCTTTACAGGCTCTCAAATTACTGATAGGCTTAAAATCGATTAAGTGTTCATTATAGTAACAGTATGGTATAAAAAGGGGGTTTAGTATAAATAAAAAGGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCGCTTGAACCCAGGAGTTTGAGACCAGTCTGAGCAACATGGCAAAACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCATTTGTACTCCCAGCTACTTAGGAGGCTAAGGTGGGAGGATCACTTAAGCCTCAGAGGTTGAGGCTGCAGTGAACCATGATCACACCACTGCACTCCAGCTTGGGTGACAGAACGAGACCCTGTCTCAAAAATAAAAGAAGTAAATTTTTTTAAAGGGGATTAATCTTTGCATATTTTAAATATCCCATTCTTTAGAAACTTCATGGTACAACCATTTAAAGGCTGGCTCATGTGACTGCAGAGTCACGCACAGGGATAAGCCCCAGTTTAAGAACCACACGTGCCCTCTCTGTCCCTTTGGTCTCTCATCTCCAGTGCAACCAAAAATGGGTCCTCAGTGGCCAGCCCGTTGTCTTACCTTTGGCTGGGGCTTGCTGCGGGGGCCGTCCTGAGGGTAGAGGAGGAGAGGGATGTTGGCCATGAAGGGGGCCACCACCTCAGTCATGTCCAGCTCTGGGATCTTATTGGACTCCAGCTGCTTCTGGTGATTCAGCTCTGCTAGGTGCTTCTGGAGAGACTCGCAGAGGTTGAGAGCAGAGCACACCTCCCCAGGACGGCTCTGGTGGGATGGAAAGAAGTCCTGCTGAAAATCCTCTCCCCAGGGGAAAATAAGACAGGCCATCTAGTGCCTCTGAATTAGTCCCTCTCTTTAAATCCCTTAAAAGAAACACAAACCTGTTGTCTAAATTCAAACTGCTCAGCATACCAAGAATGACAAAATTACCCAATCCGAGTGCCTAACCACACAGTGGCCCCTAAGCTTCCTCAATTCTCCTATTAGGCAATGATGCAGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAACTGTAGCTGCCATAGTCCCCACGTGTCATGTGAGGGACCTAGTGGGAGGTAACTGAATCACGGGGGCGGGTTTTCCCATGCTGTTTAGTGATAGTAAGTCTCATGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACATGCTCTCTTGCCTGCTGCCATGTAAGATGTGGCTTTGCTCCTCCTTCACCTTCCACCATGATTTTGAGGCCCCCCCAGCCACGTGGAACTGTGAGTCCATTAAACCTTTTTTTCTTTTTTTATAAATTACCCAGTCTCGGGTATGTCTTTATTAGTAGCATGAAAACGGACTAATACAGGCTTCCTAAATGTTACCTCTTTCCCCTCAGCTCTTCTTTAAAGGAACAGGAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGTGAGGCCGAGGCGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAATGTGGTAAAACCCCATCTCTACAAAAATACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGATGGGAGAATCACTTGAACCCGGAAGGCAGAGGTGCTGTCAGTCAAGATCGCGCCATTGCACTCCAGGCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAAATAAATAAATAAATAAATAAAGGAATAGGAGCTTCTTGCTGGAGGAGAAGAGTCAGCAATTCTAAGTCACTTCCCCACAAAATGAGCTAACACGATGGCTTTCAACACCTTCCATATGCTGATGGCTCCCAAGT
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Task1_train_14062
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Gene PSAP (prosaposin) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Krabbe disease due to saposin A deficiency
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AAATACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGATGGGAGAATCACTTGAACCCGGAAGGCAGAGGTGCTGTCAGTCAAGATCGCGCCATTGCACTCCAGGCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAAATAAATAAATAAATAAATAAAGGAATAGGAGCTTCTTGCTGGAGGAGAAGAGTCAGCAATTCTAAGTCACTTCCCCACAAAATGAGCTAACACGATGGCTTTCAACACCTTCCATATGCTGATGGCTCCCAAGTGTTTAACTTCTGTAATCATGCCCACCCTGCAGACATCTCAAACTTACCCCTCATTCTATCCTGCCCAACTAGCTCCATTTTAGCAAATAACTCCACCTTTATCTTCTCAGAAACCAGGGAGACATTTATAGCTCTTCCTCTCCTATACATCCCCCTCATGAGCAAGTCCAGTCCATTTAATCCTCCAAAAGAGAATCTGCATCTGCCATTTCCACTGTCCACATCACATCTCACTCACAAAGCAATGACCTCCTGAGGGTCCTGTCAGCTTCCGGACTTGCAGCTTCCCTCAATGGGACCTAGACCTAGACCAAACCCTTTGACAAATGCCCTTACAATCATGACACTCCAAGGCTGCACTTGCAATCCTTGAAGATGGCCTAGGAGGCTGTGTATGACACAACCCCTGCCTTCCTCACCAGAACCTTGGTCCTGTCTTGGGAAAGTCCTGCCCCACTGGCCCTCTTCAGTTACTTAAACACCTCTTCTTTGTCAAGGCCTTTCCAAATTCCACAAAGCTAGCTCCGTGTTCTTTGCTAAAAACCCAGTCTGTGACACAGGGTTTGTGTCTGTGTACAATACATACTTGATGAATGAAAGACCCCAATACATTCCCTGAATTATTCCTTGATTATAAGTTCACAGAAATAAATTCACAGAAGTGAGGTTTTGTGCCTGCTCAAAGGGGTCAGTTAAAGATTGGACATGATGTATCCAACTCACATCTCTGAAGGTTATGCCGGTTTACATTCCTTCAGCAGTCCGACCAGTCCCCAGCAGCCGCACCCTCGCTAACCCCAGGGCAAGTTACATACAGAGTGGCCTGCTGTGCCAAAGGAGCTATTCTGGATGTCAAATTGTAGCAAAATGCTGTTGAGGAATTCCAGAGCTAAGAACAGACTTTCCATTTTAATCAATCTACTCTGGGCCACTGCCTCTCCTGGGCCCCAGAAGCACCTTCAAGGAAAAGCCTATTCCCCATCACTTACCATTTCTCCTTTAATGATGTCCAGGATGACAGGGAGGTAGGAGTCCACTATCTCCTTGCATGAAGCAGACATGTTCGGTTTCGGAAGCCAGTCACAGGTCTTCTCCAAGTAAACAAGGATCTCCTCCTACGAGAGGACACCAGGGTCAGAATCACGATAGGCTTTCCTCCCTGGAAATAAATGGGCTGAAGGCAAGAGGCCCTCAATAGCTCCCAGAAAAACCAAGCCTGGAAAACAGCCAGCCCTCAGGGAAAAGGACTTGGCCATGTTACCTATGGCTCTATTAGGTCAATCAGGCAAAAGCAGACATGAGCATTCAAAATGAAAATCCCTGGACCTGCAGTCTCGCAGGCACAGGGAATTCTAAGCAGAGATGGCCAAAATGGACCTAGGTATTAGTGGCATGCAATACAACATCTCAATTAACTTTGGGCATTTAGTCCCGGGGTCAGCAAAGTAGGCCCTTCAGCTTATTTCTGTACAACCCAGAACTCAAGGAATGGTGTTTACATTCTTTTTACATTTTTAAAAAGAGACTGTGTGACAGGGACAGTATACGGCTCATATACCCTAAAATCTTTTCTCCTTGATCCTTTGTGGAAGACATTTGCCACCCTCAGGCCTACACCATTCCTCTTTAGACACCCGGAATCACAGCTCTCTTAGGAACCAGTGCACGTGCCCGTGGCTCAAGCACCATCCCCACTCACCGCCGCTCACCTCAGTGGCATTGTCCTTCAGCATATCACCAGCTGCGGTGACAACGTCTTTGCATATGTCGCAGGGAAGGGATTTCTAAGAGAAAGAATACGAGAAATTTGTATTTGCAGGACACAAATTCACACCCCACACAGCTGGAACTCCCCATGGCCTTTTCGCTATTCTCTCTAACCAGGGATATGATCATGACCGCGCTCCTGTCACATCCTGGTTCTCCACCCTGCATGAGCAGCGCTGGGGCACGGCAGGGAGGGAAGAGGTGTGACTCACCAGAACACACTGTGAGTTACAGGACACAGAACCTTTGCTCATACCCACACAGCACCCCATGTGGCACAGGTCAATTTCACATCAATGCTCACAACACCTCTGAGGAAACTGAGGCTCAGGTGAAATCAGAGTCACATCAGTATGGCAGAGAGGTGGGTGGGACAGAGAAACAAACGCCCCACCCACCTCTGAAGGCACACCCACACTGAACCGTTCACCTGCGCATCCCCTGCCTCCCAGGCATGTTAACAAGGCAAGACCACACCAAAGCCAATCTTCTGATTGGCACCAAGGCCCCCACCTGGACCAGAGGCCATGGAAATTCTAATTGGTTCCTGCGGCCCTTGGGGAAGAATGCCCAGGCTCCCTTCTTGATGTCAACTGACTTTCCATCCATGGAGAAGAAACATGTCTGGGTGAGACTGAGGAACACCTATGAACTTAGCTGCATTTAGAGAAACCAACTTGAACCTAGTCAGGCTAATACAGTCATCCTTTGGTATCTGAGGGGGTATCAATTCCAGGACCCCCATGGACACCCAAACCCCAGGATGCTCAAGTTCCACAGACAGCCCTCAACATTTGTGGAAACAGAGGGTCAAGGGTACTGTGCATGGAACCATATCAAGAGAGGGCCGGGCCGGGCGTGGTGGCTCACTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCAGCATGTTGAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGTACACCTATAATCCCAGCTACTTGGCAGGCTGAGGCAGAAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGAGTCCATCTCAAAAAAAAAAAAAAACAAAAAACAAAAACAGAAGGCCGGGCCATGACAAGACCAGCCAATCAAGTTTTAAAGTCCTTACGGGACACACATTAAACCTGGAAACAGGAAGTAGTATTAAAAACAAGATTGAAGGCAAATTAGAAACCAAATCTGAAAGTAGTTTCAGGCCAGTCGTGGTAGCCCACGCCTGTAATCACAGCACTATGGGAGGCAGGAGGATGACCTTAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTAAAAACACTATCTCTACAAAAAATACAAAAATTAGCCAGGCATACTGGTCCACATCTGTGGTTCCAGTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTAGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTAGGTGACAGAGCCAGACCCTGCCTCCAAAAAAAAGGGCAAGTATGGCCACAGAAGGCAGTTTTCCAGTGAATAATTCACAAACTGTTTCTAAAAGAATGGTGCTAAGCTTTCTTCTCTTACTGAAGGAGCAGTAGTGGCCACTGACAAGTTTTTTAGAACCCAAAGTCCACTCAGTCAAACACAGCCCGTACCACATGATGGCCGGCACAGCCCCAAGTGAGCCCAGGGCAGCAGCTCTGTGTTGAGCTGGCATGGTCAGCAGAGCATCTCCTGAGAGGGCTTGGGACCGTGAGGAACACACCCATGGCTTGTCGCCTTAGACCATGCCCCACATTAATACGCTACATTTAGCATTATTTAGATGAAAAATCAGTGCTAGCTTCCTCAGTGTGGTTACAGCTGGAAACCAATTTTAAATGGCAACTGCACTCCAGGATCTCAATCAGCAGTTTGCCTGTTTGAGAGGAGTGAGGAGAGAACAAAATATGAAACAGGCAGAA
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AAATACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGATGGGAGAATCACTTGAACCCGGAAGGCAGAGGTGCTGTCAGTCAAGATCGCGCCATTGCACTCCAGGCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAAATAAATAAATAAATAAATAAAGGAATAGGAGCTTCTTGCTGGAGGAGAAGAGTCAGCAATTCTAAGTCACTTCCCCACAAAATGAGCTAACACGATGGCTTTCAACACCTTCCATATGCTGATGGCTCCCAAGTGTTTAACTTCTGTAATCATGCCCACCCTGCAGACATCTCAAACTTACCCCTCATTCTATCCTGCCCAACTAGCTCCATTTTAGCAAATAACTCCACCTTTATCTTCTCAGAAACCAGGGAGACATTTATAGCTCTTCCTCTCCTATACATCCCCCTCATGAGCAAGTCCAGTCCATTTAATCCTCCAAAAGAGAATCTGCATCTGCCATTTCCACTGTCCACATCACATCTCACTCACAAAGCAATGACCTCCTGAGGGTCCTGTCAGCTTCCGGACTTGCAGCTTCCCTCAATGGGACCTAGACCTAGACCAAACCCTTTGACAAATGCCCTTACAATCATGACACTCCAAGGCTGCACTTGCAATCCTTGAAGATGGCCTAGGAGGCTGTGTATGACACAACCCCTGCCTTCCTCACCAGAACCTTGGTCCTGTCTTGGGAAAGTCCTGCCCCACTGGCCCTCTTCAGTTACTTAAACACCTCTTCTTTGTCAAGGCCTTTCCAAATTCCACAAAGCTAGCTCCGTGTTCTTTGCTAAAAACCCAGTCTGTGACACAGGGTTTGTGTCTGTGTACAATACATACTTGATGAATGAAAGACCCCAATACATTCCCTGAATTATTCCTTGATTATAAGTTCACAGAAATAAATTCACAGAAGTGAGGTTTTGTGCCTGCTCAAAGGGGTCAGTTAAAGATTGGACATGATGTATCCAACTCACATCTCTGAAGGTTATGCCGGTTTACATTCCTTCAGCAGTCCGACCAGTCCCCAGCAGCCGCACCCTCGCTAACCCCAGGGCAAGTTACATACAGAGTGGCCTGCTGTGCCAAAGGAGCTATTCTGGATGTCAAATTGTAGCAAAATGCTGTTGAGGAATTCCAGAGCTAAGAACAGACTTTCCATTTTAATCAATCTACTCTGGGCCACTGCCTCTCCTGGGCCCCAGAAGCACCTTCAAGGAAAAGCCTATTCCCCATCACTTACCATTTCTCCTTTAATGATGTCCAGGATGACAGGGAGGTAGGAGTCCACTATCTCCTTGCATGAAGCAGACATGTTCGGTTTCGGAAGCCAGTCACAGGTCTTCTCCAAGTAAACAAGGATCTCCTCCTACGAGAGGACACCAGGGTCAGAATCACGATAGGCTTTCCTCCCTGGAAATAAATGGGCTGAAGGCAAGAGGCCCTCAATAGCTCCCAGAAAAACCAAGCCTGGAAAACAGCCAGCCCTCAGGGAAAAGGACTTGGCCATGTTACCTATGGCTCTATTAGGTCAATCAGGCAAAAGCAGACATGAGCATTCAAAATGAAAATCCCTGGACCTGCAGTCTCGCAGGCACAGGGAATTCTAAGCAGAGATGGCCAAAATGGACCTAGGTATTAGTGGCATGCAATACAACATCTCAATTAACTTTGGGCATTTAGTCCCGGGGTCAGCAAAGTAGGCCCTTCAGCTTATTTCTGTACAACCCAGAACTCAAGGAATGGTGTTTACATTCTTTTTACATTTTTAAAAAGAGACTGTGTGACAGGGACAGTATACGGCTCATATACCCTAAAATCTTTTCTCCTTGATCCTTTGTGGAAGACATTTGCCACCCTCAGGCCTACACCATTCCTCTTTAGACACCCGGAATCACAGCTCTCTTAGGAACCAGTGCACGTGCCCGTGGCTCAAGCACCATCCCCACTCACCGCCGCTCACCTCAGTGGCATTGTCCTTCAGCATATCACCAGCTGCGGTGCCAACGTCTTTGCATATGTCGCAGGGAAGGGATTTCTAAGAGAAAGAATACGAGAAATTTGTATTTGCAGGACACAAATTCACACCCCACACAGCTGGAACTCCCCATGGCCTTTTCGCTATTCTCTCTAACCAGGGATATGATCATGACCGCGCTCCTGTCACATCCTGGTTCTCCACCCTGCATGAGCAGCGCTGGGGCACGGCAGGGAGGGAAGAGGTGTGACTCACCAGAACACACTGTGAGTTACAGGACACAGAACCTTTGCTCATACCCACACAGCACCCCATGTGGCACAGGTCAATTTCACATCAATGCTCACAACACCTCTGAGGAAACTGAGGCTCAGGTGAAATCAGAGTCACATCAGTATGGCAGAGAGGTGGGTGGGACAGAGAAACAAACGCCCCACCCACCTCTGAAGGCACACCCACACTGAACCGTTCACCTGCGCATCCCCTGCCTCCCAGGCATGTTAACAAGGCAAGACCACACCAAAGCCAATCTTCTGATTGGCACCAAGGCCCCCACCTGGACCAGAGGCCATGGAAATTCTAATTGGTTCCTGCGGCCCTTGGGGAAGAATGCCCAGGCTCCCTTCTTGATGTCAACTGACTTTCCATCCATGGAGAAGAAACATGTCTGGGTGAGACTGAGGAACACCTATGAACTTAGCTGCATTTAGAGAAACCAACTTGAACCTAGTCAGGCTAATACAGTCATCCTTTGGTATCTGAGGGGGTATCAATTCCAGGACCCCCATGGACACCCAAACCCCAGGATGCTCAAGTTCCACAGACAGCCCTCAACATTTGTGGAAACAGAGGGTCAAGGGTACTGTGCATGGAACCATATCAAGAGAGGGCCGGGCCGGGCGTGGTGGCTCACTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCAGCATGTTGAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGTACACCTATAATCCCAGCTACTTGGCAGGCTGAGGCAGAAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGAGTCCATCTCAAAAAAAAAAAAAAACAAAAAACAAAAACAGAAGGCCGGGCCATGACAAGACCAGCCAATCAAGTTTTAAAGTCCTTACGGGACACACATTAAACCTGGAAACAGGAAGTAGTATTAAAAACAAGATTGAAGGCAAATTAGAAACCAAATCTGAAAGTAGTTTCAGGCCAGTCGTGGTAGCCCACGCCTGTAATCACAGCACTATGGGAGGCAGGAGGATGACCTTAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTAAAAACACTATCTCTACAAAAAATACAAAAATTAGCCAGGCATACTGGTCCACATCTGTGGTTCCAGTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTAGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTAGGTGACAGAGCCAGACCCTGCCTCCAAAAAAAAGGGCAAGTATGGCCACAGAAGGCAGTTTTCCAGTGAATAATTCACAAACTGTTTCTAAAAGAATGGTGCTAAGCTTTCTTCTCTTACTGAAGGAGCAGTAGTGGCCACTGACAAGTTTTTTAGAACCCAAAGTCCACTCAGTCAAACACAGCCCGTACCACATGATGGCCGGCACAGCCCCAAGTGAGCCCAGGGCAGCAGCTCTGTGTTGAGCTGGCATGGTCAGCAGAGCATCTCCTGAGAGGGCTTGGGACCGTGAGGAACACACCCATGGCTTGTCGCCTTAGACCATGCCCCACATTAATACGCTACATTTAGCATTATTTAGATGAAAAATCAGTGCTAGCTTCCTCAGTGTGGTTACAGCTGGAAACCAATTTTAAATGGCAACTGCACTCCAGGATCTCAATCAGCAGTTTGCCTGTTTGAGAGGAGTGAGGAGAGAACAAAATATGAAACAGGCAGAA
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Task1_train_14063
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This alteration occurs within gene PSAP (prosaposin) located on Chromosome 10. Is it associated with a disease or is it a benign variant?
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Pathogenic; Sphingolipid activator protein 1 deficiency
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CAGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGAAGGCGGAGGTTGCAGTTAGCCGAGACTACGCCATTGCACCACTCCGGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAACAAACAAACAAACAAAACAAACAAACAAAAAAAAAACGGCCAATAGCGTGCAAGACTTTCTTTTCTCTTTTTCTTTTTTTCACAGGTGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCCAACTCCTAGGCTCAAGCGATCCTCCCACCTCGGTGTCCCAATGTGCTGGGATTACAGGCATAAGCCACCGCACCCAGATGCAAGACATTTCAAAGCAAGTGAAATGAGGACCCCATGGCAAAATAACTGGACCAGAAAACCCTATATCGCCTTCAATACCTATGAGAATTAAGCTCCGATTTTTTTTAGCTTGCCCAAATTCCTATCTAAGGGGTGTAGGAATCATACCCTACAAACCATAAACTCTCATCAGATGGGTTTTATTTGACCCCATATATCGTGACTTACTTTCCAATCTGACTCTGGCATAACATTTTATAAGACAAGGAAAAAAAAATCAAAATATCTAACCCCAAAATATATTTCCTTGCCATACCTTGAAATTGCCCTGCAAAGTCTCTTGTGGGAAAAATCCACATTCTATAGAGAATCCCCTTTCCCCTATGTTTTCCTTCCTTCCTCTCCAGATCCAGGAGATAATCAACTAAGAGCCAGTCACCCTTTCATTTCCATAGAAATATTTTACAACGTGCTCGCTCTCTTAGTCGGCTACCTGAGAGCTTCCTCTGCACAATAAAACTTGGTCTCCACAATCCTTTATCTTAACTTGAATACTTTCTTTCTATTGATTCTAGGTTTTCAGATAAACTCAACCAATTATCAACTAGAAAATGTTTAAATTTACCTATGGCCTGGAAGCCCCCCGCCGCTTTGAGTTGTTTCGCCCTTCTGAACCAAACCAACGTATTTCTTAAATGTATTTGATTGATGTCTCGTGCCTCCCGAAAATATGTAAAACCCAGCTGTATCCCAACCACCTTAGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCACGGGCCATGGTCACTCATATTTGCCTCAGAATAAATCTCAAAATATTTTTACAGAGTTTGACTCGTTTTGTCAACACCTAGAATCCAGAGTAAATACATATGCAAACGTCAATATAGATGATACACATGTGCTTCCTGCAGCTTCGCTACCCTTACAAACAGGCAACTGAAGCCAACGGCCAAAGTGTCCTGCGGGACGGGGCTCCAGCCCACCTCGATCACGTGCGCCCAGCACAGGCACAACACAGCTGCCCAAGGGGTCACCCTACAAGACTCACCCACCCCCACAGTGGGAAGCGCAGCCTGAGGGAAGGCCTCGGGGCCCCAGCCGCGCAGGAACCCACTCGAGCCCCGAAGGAGATGCTGCCCAGGGCCTGGGCCGTCCTCCCGGGGGCATTTTCGCAGCCCGCCCCCCGCAGCCCCCAGCCGCCCAGAGAAAGCCAGAGAAAGCCAGCGAACGCGCCTGCGCAGTGCGCGCGCCCCCTTGCCAACTAGGGCAGGGGGAGCAGAGGGGCCAGGCCCGGCACAGCCCATTCTGGGGCAGATGGACGCTGCGAGGCACCTCCTCCCCAGGATGAGGGTCCCAGGGCTTACCCGCGCCCAGGAGGCTGGCCAGGAGGAAGAGGGCGTACATAGCGCCGTCTGACTCCGCAGTCTGCAATGCGGAGCGTCAGCTGATCCCCCGCAGATATAAATCTGCCCTGCCCCAAAGCCGTCCAGAGCGCAGGCGCTAACCCCGCCCCATCCGGGCCTGCCCGAGCTCAACAGCGCCCTGACTCAGCGCCTCTGAGGGCGCCTGCGCGAAGGGGAGGCCAATAGGAGGGGGCAATGGGAGGGGCGAAAGGAAGGGCTATGGGGAGGAGTGAGGAAGAACTTGGAGAAAGGGAAGGGAAAGGTCATAAAAGAAAAGCCCTACTAATTGAATAGGTCAGAGATTATATATGTAAAATACCTTTTAAATCTCCACATTGTTGGCCGGCCGCGGTGGCTGACGCCTGTAATCCCAACACTTGGGAGGCCGAGGCGGGCGGAGGGTTCAAGACTAGCCTGGGCAACGTGGTGAAACCCCATCTCTACAAAAAAAAAAATACAAAAAAATTAGCCCATTGTAGTAGCGGGTTTCACATAGAATAGCTTGGGGTTTCACATAGAATAAGTAGTCGTGTAACAGGGTACAGGGCTCAGTCCTGGCCAGGGGCACGTGGGGGCAGGTGGTGGCACCTGGTCAAAGGCAAGTCTGGGCTGGGCATGCTGGCTCACTCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCGTGGTGGCGCTCGCCTGTGGTTCCAGCTATTTCAGGAGGCAGAGGCAGGAAAATTGCTTAAACCCGGGAGGTGGAGGTTGCCGTGAGTCAAGATCGCACTACTGCACTGCAGCCTGGACCACAGAGCGAGAGAGATTCCCATCACCAAAAAAAAAAAAACAAAAAACTTTTAAGCCTCACATTGTGGTACCGTTAAAGATGTAATACCATTCCTCACCCATCATAAGAGATCATAAGAGTCACAACCAACACTCCTGTAACGAGACAGCTTAAGAGAAAAGCATAACAAATTTATGTAATCAACGTTTTATGTGACATGGAAGCCTTCAGAAATTAAGACCCAAAGACCCTCTGCCTGTGGCTGCCCCTGCCAGGACCTGAACAGAGAATGATGATGACCCTCTCCAGAAGGATAAGAACCTGCCAACCGCAAGGCAGGGAAAGGAGGGGAATCTTAGCCCCTTAGGGCAGGCACTTAGAGGTCATTTACCTGTAGGGACATTGAGCCTAGGAGAGGGCAAGACGTTTATCCAAGGTCACACAACAGGTAGAGATAGAACCTGGCCCGAAGCCAGGTTTCCTGACCCAGGAAGGGCAAACCTACAGTTCCTCCAACTTCCTCCAATCTGCAATCCGCTCTGGAGAACAACCCCAGGGACTAAGGCCTCAGAACCTTCAGTTCTGCTCCCCTGCAATCTCCCTAAGTGCCCCCAGCCCCCACCACAGCTCTGACTTCCTCTGGGGAGCCAGATGGGGAAGTGTGCCCCATGCACCACAGTGGGCCATGTGAGGCAGCTGAGTGAGTTGGGACAAGATGTGGTCTCAACTGGACGCCTCACAGGTCGGCCTCAGTGGCCAGATGGAGACTTCGTGGCTGCTCCACCTTTGGGCTTCCCAAGGCCAGGCAGAAGCGTGGGGCAGACCACACAACAACTGGTTAAAAGCAAGGGAGCTAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGCACGATGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAAAAAACAAACAAAAAAAGCAAGGGAGCTGGGGCTCTAGGACAAATCCCCCATCCTTCA
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CAGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGAAGGCGGAGGTTGCAGTTAGCCGAGACTACGCCATTGCACCACTCCGGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAACAAACAAACAAACAAAACAAACAAACAAAAAAAAAACGGCCAATAGCGTGCAAGACTTTCTTTTCTCTTTTTCTTTTTTTCACAGGTGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCCAACTCCTAGGCTCAAGCGATCCTCCCACCTCGGTGTCCCAATGTGCTGGGATTACAGGCATAAGCCACCGCACCCAGATGCAAGACATTTCAAAGCAAGTGAAATGAGGACCCCATGGCAAAATAACTGGACCAGAAAACCCTATATCGCCTTCAATACCTATGAGAATTAAGCTCCGATTTTTTTTAGCTTGCCCAAATTCCTATCTAAGGGGTGTAGGAATCATACCCTACAAACCATAAACTCTCATCAGATGGGTTTTATTTGACCCCATATATCGTGACTTACTTTCCAATCTGACTCTGGCATAACATTTTATAAGACAAGGAAAAAAAAATCAAAATATCTAACCCCAAAATATATTTCCTTGCCATACCTTGAAATTGCCCTGCAAAGTCTCTTGTGGGAAAAATCCACATTCTATAGAGAATCCCCTTTCCCCTATGTTTTCCTTCCTTCCTCTCCAGATCCAGGAGATAATCAACTAAGAGCCAGTCACCCTTTCATTTCCATAGAAATATTTTACAACGTGCTCGCTCTCTTAGTCGGCTACCTGAGAGCTTCCTCTGCACAATAAAACTTGGTCTCCACAATCCTTTATCTTAACTTGAATACTTTCTTTCTATTGATTCTAGGTTTTCAGATAAACTCAACCAATTATCAACTAGAAAATGTTTAAATTTACCTATGGCCTGGAAGCCCCCCGCCGCTTTGAGTTGTTTCGCCCTTCTGAACCAAACCAACGTATTTCTTAAATGTATTTGATTGATGTCTCGTGCCTCCCGAAAATATGTAAAACCCAGCTGTATCCCAACCACCTTAGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCACGGGCCATGGTCACTCATATTTGCCTCAGAATAAATCTCAAAATATTTTTACAGAGTTTGACTCGTTTTGTCAACACCTAGAATCCAGAGTAAATACATATGCAAACGTCAATATAGATGATACACATGTGCTTCCTGCAGCTTCGCTACCCTTACAAACAGGCAACTGAAGCCAACGGCCAAAGTGTCCTGCGGGACGGGGCTCCAGCCCACCTCGATCACGTGCGCCCAGCACAGGCACAACACAGCTGCCCAAGGGGTCACCCTACAAGACTCACCCACCCCCACAGTGGGAAGCGCAGCCTGAGGGAAGGCCTCGGGGCCCCAGCCGCGCAGGAACCCACTCGAGCCCCGAAGGAGATGCTGCCCAGGGCCTGGGCCGTCCTCCCGGGGGCATTTTCGCAGCCCGCCCCCCGCAGCCCCCAGCCGCCCAGAGAAAGCCAGAGAAAGCCAGCGAACGCGCCTGCGCAGTGCGCGCGCCCCCTTGCCAACTAGGGCAGGGGGAGCAGAGGGGCCAGGCCCGGCACAGCCCATTCTGGGGCAGATGGACGCTGCGAGGCACCTCCTCCCCAGGATGAGGGTCCCAGGGCTTACCCGCGCCCAGGAGGCTGGCCAGGAGGAAGAGGGCGTACCTAGCGCCGTCTGACTCCGCAGTCTGCAATGCGGAGCGTCAGCTGATCCCCCGCAGATATAAATCTGCCCTGCCCCAAAGCCGTCCAGAGCGCAGGCGCTAACCCCGCCCCATCCGGGCCTGCCCGAGCTCAACAGCGCCCTGACTCAGCGCCTCTGAGGGCGCCTGCGCGAAGGGGAGGCCAATAGGAGGGGGCAATGGGAGGGGCGAAAGGAAGGGCTATGGGGAGGAGTGAGGAAGAACTTGGAGAAAGGGAAGGGAAAGGTCATAAAAGAAAAGCCCTACTAATTGAATAGGTCAGAGATTATATATGTAAAATACCTTTTAAATCTCCACATTGTTGGCCGGCCGCGGTGGCTGACGCCTGTAATCCCAACACTTGGGAGGCCGAGGCGGGCGGAGGGTTCAAGACTAGCCTGGGCAACGTGGTGAAACCCCATCTCTACAAAAAAAAAAATACAAAAAAATTAGCCCATTGTAGTAGCGGGTTTCACATAGAATAGCTTGGGGTTTCACATAGAATAAGTAGTCGTGTAACAGGGTACAGGGCTCAGTCCTGGCCAGGGGCACGTGGGGGCAGGTGGTGGCACCTGGTCAAAGGCAAGTCTGGGCTGGGCATGCTGGCTCACTCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCGTGGTGGCGCTCGCCTGTGGTTCCAGCTATTTCAGGAGGCAGAGGCAGGAAAATTGCTTAAACCCGGGAGGTGGAGGTTGCCGTGAGTCAAGATCGCACTACTGCACTGCAGCCTGGACCACAGAGCGAGAGAGATTCCCATCACCAAAAAAAAAAAAACAAAAAACTTTTAAGCCTCACATTGTGGTACCGTTAAAGATGTAATACCATTCCTCACCCATCATAAGAGATCATAAGAGTCACAACCAACACTCCTGTAACGAGACAGCTTAAGAGAAAAGCATAACAAATTTATGTAATCAACGTTTTATGTGACATGGAAGCCTTCAGAAATTAAGACCCAAAGACCCTCTGCCTGTGGCTGCCCCTGCCAGGACCTGAACAGAGAATGATGATGACCCTCTCCAGAAGGATAAGAACCTGCCAACCGCAAGGCAGGGAAAGGAGGGGAATCTTAGCCCCTTAGGGCAGGCACTTAGAGGTCATTTACCTGTAGGGACATTGAGCCTAGGAGAGGGCAAGACGTTTATCCAAGGTCACACAACAGGTAGAGATAGAACCTGGCCCGAAGCCAGGTTTCCTGACCCAGGAAGGGCAAACCTACAGTTCCTCCAACTTCCTCCAATCTGCAATCCGCTCTGGAGAACAACCCCAGGGACTAAGGCCTCAGAACCTTCAGTTCTGCTCCCCTGCAATCTCCCTAAGTGCCCCCAGCCCCCACCACAGCTCTGACTTCCTCTGGGGAGCCAGATGGGGAAGTGTGCCCCATGCACCACAGTGGGCCATGTGAGGCAGCTGAGTGAGTTGGGACAAGATGTGGTCTCAACTGGACGCCTCACAGGTCGGCCTCAGTGGCCAGATGGAGACTTCGTGGCTGCTCCACCTTTGGGCTTCCCAAGGCCAGGCAGAAGCGTGGGGCAGACCACACAACAACTGGTTAAAAGCAAGGGAGCTAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGCACGATGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAAAAAACAAACAAAAAAAGCAAGGGAGCTGGGGCTCTAGGACAAATCCCCCATCCTTCA
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Task1_train_14064
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A sequence alteration has been identified in PSAP (prosaposin) on Chromosome 10. Is it disease-inducing or harmless?
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Pathogenic; Gaucher disease due to saposin C deficiency
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AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGAAGGCGGAGGTTGCAGTTAGCCGAGACTACGCCATTGCACCACTCCGGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAACAAACAAACAAACAAAACAAACAAACAAAAAAAAAACGGCCAATAGCGTGCAAGACTTTCTTTTCTCTTTTTCTTTTTTTCACAGGTGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCCAACTCCTAGGCTCAAGCGATCCTCCCACCTCGGTGTCCCAATGTGCTGGGATTACAGGCATAAGCCACCGCACCCAGATGCAAGACATTTCAAAGCAAGTGAAATGAGGACCCCATGGCAAAATAACTGGACCAGAAAACCCTATATCGCCTTCAATACCTATGAGAATTAAGCTCCGATTTTTTTTAGCTTGCCCAAATTCCTATCTAAGGGGTGTAGGAATCATACCCTACAAACCATAAACTCTCATCAGATGGGTTTTATTTGACCCCATATATCGTGACTTACTTTCCAATCTGACTCTGGCATAACATTTTATAAGACAAGGAAAAAAAAATCAAAATATCTAACCCCAAAATATATTTCCTTGCCATACCTTGAAATTGCCCTGCAAAGTCTCTTGTGGGAAAAATCCACATTCTATAGAGAATCCCCTTTCCCCTATGTTTTCCTTCCTTCCTCTCCAGATCCAGGAGATAATCAACTAAGAGCCAGTCACCCTTTCATTTCCATAGAAATATTTTACAACGTGCTCGCTCTCTTAGTCGGCTACCTGAGAGCTTCCTCTGCACAATAAAACTTGGTCTCCACAATCCTTTATCTTAACTTGAATACTTTCTTTCTATTGATTCTAGGTTTTCAGATAAACTCAACCAATTATCAACTAGAAAATGTTTAAATTTACCTATGGCCTGGAAGCCCCCCGCCGCTTTGAGTTGTTTCGCCCTTCTGAACCAAACCAACGTATTTCTTAAATGTATTTGATTGATGTCTCGTGCCTCCCGAAAATATGTAAAACCCAGCTGTATCCCAACCACCTTAGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCACGGGCCATGGTCACTCATATTTGCCTCAGAATAAATCTCAAAATATTTTTACAGAGTTTGACTCGTTTTGTCAACACCTAGAATCCAGAGTAAATACATATGCAAACGTCAATATAGATGATACACATGTGCTTCCTGCAGCTTCGCTACCCTTACAAACAGGCAACTGAAGCCAACGGCCAAAGTGTCCTGCGGGACGGGGCTCCAGCCCACCTCGATCACGTGCGCCCAGCACAGGCACAACACAGCTGCCCAAGGGGTCACCCTACAAGACTCACCCACCCCCACAGTGGGAAGCGCAGCCTGAGGGAAGGCCTCGGGGCCCCAGCCGCGCAGGAACCCACTCGAGCCCCGAAGGAGATGCTGCCCAGGGCCTGGGCCGTCCTCCCGGGGGCATTTTCGCAGCCCGCCCCCCGCAGCCCCCAGCCGCCCAGAGAAAGCCAGAGAAAGCCAGCGAACGCGCCTGCGCAGTGCGCGCGCCCCCTTGCCAACTAGGGCAGGGGGAGCAGAGGGGCCAGGCCCGGCACAGCCCATTCTGGGGCAGATGGACGCTGCGAGGCACCTCCTCCCCAGGATGAGGGTCCCAGGGCTTACCCGCGCCCAGGAGGCTGGCCAGGAGGAAGAGGGCGTACATAGCGCCGTCTGACTCCGCAGTCTGCAATGCGGAGCGTCAGCTGATCCCCCGCAGATATAAATCTGCCCTGCCCCAAAGCCGTCCAGAGCGCAGGCGCTAACCCCGCCCCATCCGGGCCTGCCCGAGCTCAACAGCGCCCTGACTCAGCGCCTCTGAGGGCGCCTGCGCGAAGGGGAGGCCAATAGGAGGGGGCAATGGGAGGGGCGAAAGGAAGGGCTATGGGGAGGAGTGAGGAAGAACTTGGAGAAAGGGAAGGGAAAGGTCATAAAAGAAAAGCCCTACTAATTGAATAGGTCAGAGATTATATATGTAAAATACCTTTTAAATCTCCACATTGTTGGCCGGCCGCGGTGGCTGACGCCTGTAATCCCAACACTTGGGAGGCCGAGGCGGGCGGAGGGTTCAAGACTAGCCTGGGCAACGTGGTGAAACCCCATCTCTACAAAAAAAAAAATACAAAAAAATTAGCCCATTGTAGTAGCGGGTTTCACATAGAATAGCTTGGGGTTTCACATAGAATAAGTAGTCGTGTAACAGGGTACAGGGCTCAGTCCTGGCCAGGGGCACGTGGGGGCAGGTGGTGGCACCTGGTCAAAGGCAAGTCTGGGCTGGGCATGCTGGCTCACTCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCGTGGTGGCGCTCGCCTGTGGTTCCAGCTATTTCAGGAGGCAGAGGCAGGAAAATTGCTTAAACCCGGGAGGTGGAGGTTGCCGTGAGTCAAGATCGCACTACTGCACTGCAGCCTGGACCACAGAGCGAGAGAGATTCCCATCACCAAAAAAAAAAAAACAAAAAACTTTTAAGCCTCACATTGTGGTACCGTTAAAGATGTAATACCATTCCTCACCCATCATAAGAGATCATAAGAGTCACAACCAACACTCCTGTAACGAGACAGCTTAAGAGAAAAGCATAACAAATTTATGTAATCAACGTTTTATGTGACATGGAAGCCTTCAGAAATTAAGACCCAAAGACCCTCTGCCTGTGGCTGCCCCTGCCAGGACCTGAACAGAGAATGATGATGACCCTCTCCAGAAGGATAAGAACCTGCCAACCGCAAGGCAGGGAAAGGAGGGGAATCTTAGCCCCTTAGGGCAGGCACTTAGAGGTCATTTACCTGTAGGGACATTGAGCCTAGGAGAGGGCAAGACGTTTATCCAAGGTCACACAACAGGTAGAGATAGAACCTGGCCCGAAGCCAGGTTTCCTGACCCAGGAAGGGCAAACCTACAGTTCCTCCAACTTCCTCCAATCTGCAATCCGCTCTGGAGAACAACCCCAGGGACTAAGGCCTCAGAACCTTCAGTTCTGCTCCCCTGCAATCTCCCTAAGTGCCCCCAGCCCCCACCACAGCTCTGACTTCCTCTGGGGAGCCAGATGGGGAAGTGTGCCCCATGCACCACAGTGGGCCATGTGAGGCAGCTGAGTGAGTTGGGACAAGATGTGGTCTCAACTGGACGCCTCACAGGTCGGCCTCAGTGGCCAGATGGAGACTTCGTGGCTGCTCCACCTTTGGGCTTCCCAAGGCCAGGCAGAAGCGTGGGGCAGACCACACAACAACTGGTTAAAAGCAAGGGAGCTAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGCACGATGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAAAAAACAAACAAAAAAAGCAAGGGAGCTGGGGCTCTAGGACAAATCCCCCATCCTTCAG
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AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGAAGGCGGAGGTTGCAGTTAGCCGAGACTACGCCATTGCACCACTCCGGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAACAAACAAACAAACAAAACAAACAAACAAAAAAAAAACGGCCAATAGCGTGCAAGACTTTCTTTTCTCTTTTTCTTTTTTTCACAGGTGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCCAACTCCTAGGCTCAAGCGATCCTCCCACCTCGGTGTCCCAATGTGCTGGGATTACAGGCATAAGCCACCGCACCCAGATGCAAGACATTTCAAAGCAAGTGAAATGAGGACCCCATGGCAAAATAACTGGACCAGAAAACCCTATATCGCCTTCAATACCTATGAGAATTAAGCTCCGATTTTTTTTAGCTTGCCCAAATTCCTATCTAAGGGGTGTAGGAATCATACCCTACAAACCATAAACTCTCATCAGATGGGTTTTATTTGACCCCATATATCGTGACTTACTTTCCAATCTGACTCTGGCATAACATTTTATAAGACAAGGAAAAAAAAATCAAAATATCTAACCCCAAAATATATTTCCTTGCCATACCTTGAAATTGCCCTGCAAAGTCTCTTGTGGGAAAAATCCACATTCTATAGAGAATCCCCTTTCCCCTATGTTTTCCTTCCTTCCTCTCCAGATCCAGGAGATAATCAACTAAGAGCCAGTCACCCTTTCATTTCCATAGAAATATTTTACAACGTGCTCGCTCTCTTAGTCGGCTACCTGAGAGCTTCCTCTGCACAATAAAACTTGGTCTCCACAATCCTTTATCTTAACTTGAATACTTTCTTTCTATTGATTCTAGGTTTTCAGATAAACTCAACCAATTATCAACTAGAAAATGTTTAAATTTACCTATGGCCTGGAAGCCCCCCGCCGCTTTGAGTTGTTTCGCCCTTCTGAACCAAACCAACGTATTTCTTAAATGTATTTGATTGATGTCTCGTGCCTCCCGAAAATATGTAAAACCCAGCTGTATCCCAACCACCTTAGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCACGGGCCATGGTCACTCATATTTGCCTCAGAATAAATCTCAAAATATTTTTACAGAGTTTGACTCGTTTTGTCAACACCTAGAATCCAGAGTAAATACATATGCAAACGTCAATATAGATGATACACATGTGCTTCCTGCAGCTTCGCTACCCTTACAAACAGGCAACTGAAGCCAACGGCCAAAGTGTCCTGCGGGACGGGGCTCCAGCCCACCTCGATCACGTGCGCCCAGCACAGGCACAACACAGCTGCCCAAGGGGTCACCCTACAAGACTCACCCACCCCCACAGTGGGAAGCGCAGCCTGAGGGAAGGCCTCGGGGCCCCAGCCGCGCAGGAACCCACTCGAGCCCCGAAGGAGATGCTGCCCAGGGCCTGGGCCGTCCTCCCGGGGGCATTTTCGCAGCCCGCCCCCCGCAGCCCCCAGCCGCCCAGAGAAAGCCAGAGAAAGCCAGCGAACGCGCCTGCGCAGTGCGCGCGCCCCCTTGCCAACTAGGGCAGGGGGAGCAGAGGGGCCAGGCCCGGCACAGCCCATTCTGGGGCAGATGGACGCTGCGAGGCACCTCCTCCCCAGGATGAGGGTCCCAGGGCTTACCCGCGCCCAGGAGGCTGGCCAGGAGGAAGAGGGCGTACAAAGCGCCGTCTGACTCCGCAGTCTGCAATGCGGAGCGTCAGCTGATCCCCCGCAGATATAAATCTGCCCTGCCCCAAAGCCGTCCAGAGCGCAGGCGCTAACCCCGCCCCATCCGGGCCTGCCCGAGCTCAACAGCGCCCTGACTCAGCGCCTCTGAGGGCGCCTGCGCGAAGGGGAGGCCAATAGGAGGGGGCAATGGGAGGGGCGAAAGGAAGGGCTATGGGGAGGAGTGAGGAAGAACTTGGAGAAAGGGAAGGGAAAGGTCATAAAAGAAAAGCCCTACTAATTGAATAGGTCAGAGATTATATATGTAAAATACCTTTTAAATCTCCACATTGTTGGCCGGCCGCGGTGGCTGACGCCTGTAATCCCAACACTTGGGAGGCCGAGGCGGGCGGAGGGTTCAAGACTAGCCTGGGCAACGTGGTGAAACCCCATCTCTACAAAAAAAAAAATACAAAAAAATTAGCCCATTGTAGTAGCGGGTTTCACATAGAATAGCTTGGGGTTTCACATAGAATAAGTAGTCGTGTAACAGGGTACAGGGCTCAGTCCTGGCCAGGGGCACGTGGGGGCAGGTGGTGGCACCTGGTCAAAGGCAAGTCTGGGCTGGGCATGCTGGCTCACTCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCGTGGTGGCGCTCGCCTGTGGTTCCAGCTATTTCAGGAGGCAGAGGCAGGAAAATTGCTTAAACCCGGGAGGTGGAGGTTGCCGTGAGTCAAGATCGCACTACTGCACTGCAGCCTGGACCACAGAGCGAGAGAGATTCCCATCACCAAAAAAAAAAAAACAAAAAACTTTTAAGCCTCACATTGTGGTACCGTTAAAGATGTAATACCATTCCTCACCCATCATAAGAGATCATAAGAGTCACAACCAACACTCCTGTAACGAGACAGCTTAAGAGAAAAGCATAACAAATTTATGTAATCAACGTTTTATGTGACATGGAAGCCTTCAGAAATTAAGACCCAAAGACCCTCTGCCTGTGGCTGCCCCTGCCAGGACCTGAACAGAGAATGATGATGACCCTCTCCAGAAGGATAAGAACCTGCCAACCGCAAGGCAGGGAAAGGAGGGGAATCTTAGCCCCTTAGGGCAGGCACTTAGAGGTCATTTACCTGTAGGGACATTGAGCCTAGGAGAGGGCAAGACGTTTATCCAAGGTCACACAACAGGTAGAGATAGAACCTGGCCCGAAGCCAGGTTTCCTGACCCAGGAAGGGCAAACCTACAGTTCCTCCAACTTCCTCCAATCTGCAATCCGCTCTGGAGAACAACCCCAGGGACTAAGGCCTCAGAACCTTCAGTTCTGCTCCCCTGCAATCTCCCTAAGTGCCCCCAGCCCCCACCACAGCTCTGACTTCCTCTGGGGAGCCAGATGGGGAAGTGTGCCCCATGCACCACAGTGGGCCATGTGAGGCAGCTGAGTGAGTTGGGACAAGATGTGGTCTCAACTGGACGCCTCACAGGTCGGCCTCAGTGGCCAGATGGAGACTTCGTGGCTGCTCCACCTTTGGGCTTCCCAAGGCCAGGCAGAAGCGTGGGGCAGACCACACAACAACTGGTTAAAAGCAAGGGAGCTAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGCACGATGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAAAAAACAAACAAAAAAAGCAAGGGAGCTGGGGCTCTAGGACAAATCCCCCATCCTTCAG
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Task1_train_14065
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This gene mutation involves PSAP (prosaposin) on Chromosome 10. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Sphingolipid activator protein 1 deficiency
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AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGAAGGCGGAGGTTGCAGTTAGCCGAGACTACGCCATTGCACCACTCCGGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAACAAACAAACAAACAAAACAAACAAACAAAAAAAAAACGGCCAATAGCGTGCAAGACTTTCTTTTCTCTTTTTCTTTTTTTCACAGGTGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCCAACTCCTAGGCTCAAGCGATCCTCCCACCTCGGTGTCCCAATGTGCTGGGATTACAGGCATAAGCCACCGCACCCAGATGCAAGACATTTCAAAGCAAGTGAAATGAGGACCCCATGGCAAAATAACTGGACCAGAAAACCCTATATCGCCTTCAATACCTATGAGAATTAAGCTCCGATTTTTTTTAGCTTGCCCAAATTCCTATCTAAGGGGTGTAGGAATCATACCCTACAAACCATAAACTCTCATCAGATGGGTTTTATTTGACCCCATATATCGTGACTTACTTTCCAATCTGACTCTGGCATAACATTTTATAAGACAAGGAAAAAAAAATCAAAATATCTAACCCCAAAATATATTTCCTTGCCATACCTTGAAATTGCCCTGCAAAGTCTCTTGTGGGAAAAATCCACATTCTATAGAGAATCCCCTTTCCCCTATGTTTTCCTTCCTTCCTCTCCAGATCCAGGAGATAATCAACTAAGAGCCAGTCACCCTTTCATTTCCATAGAAATATTTTACAACGTGCTCGCTCTCTTAGTCGGCTACCTGAGAGCTTCCTCTGCACAATAAAACTTGGTCTCCACAATCCTTTATCTTAACTTGAATACTTTCTTTCTATTGATTCTAGGTTTTCAGATAAACTCAACCAATTATCAACTAGAAAATGTTTAAATTTACCTATGGCCTGGAAGCCCCCCGCCGCTTTGAGTTGTTTCGCCCTTCTGAACCAAACCAACGTATTTCTTAAATGTATTTGATTGATGTCTCGTGCCTCCCGAAAATATGTAAAACCCAGCTGTATCCCAACCACCTTAGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCACGGGCCATGGTCACTCATATTTGCCTCAGAATAAATCTCAAAATATTTTTACAGAGTTTGACTCGTTTTGTCAACACCTAGAATCCAGAGTAAATACATATGCAAACGTCAATATAGATGATACACATGTGCTTCCTGCAGCTTCGCTACCCTTACAAACAGGCAACTGAAGCCAACGGCCAAAGTGTCCTGCGGGACGGGGCTCCAGCCCACCTCGATCACGTGCGCCCAGCACAGGCACAACACAGCTGCCCAAGGGGTCACCCTACAAGACTCACCCACCCCCACAGTGGGAAGCGCAGCCTGAGGGAAGGCCTCGGGGCCCCAGCCGCGCAGGAACCCACTCGAGCCCCGAAGGAGATGCTGCCCAGGGCCTGGGCCGTCCTCCCGGGGGCATTTTCGCAGCCCGCCCCCCGCAGCCCCCAGCCGCCCAGAGAAAGCCAGAGAAAGCCAGCGAACGCGCCTGCGCAGTGCGCGCGCCCCCTTGCCAACTAGGGCAGGGGGAGCAGAGGGGCCAGGCCCGGCACAGCCCATTCTGGGGCAGATGGACGCTGCGAGGCACCTCCTCCCCAGGATGAGGGTCCCAGGGCTTACCCGCGCCCAGGAGGCTGGCCAGGAGGAAGAGGGCGTACATAGCGCCGTCTGACTCCGCAGTCTGCAATGCGGAGCGTCAGCTGATCCCCCGCAGATATAAATCTGCCCTGCCCCAAAGCCGTCCAGAGCGCAGGCGCTAACCCCGCCCCATCCGGGCCTGCCCGAGCTCAACAGCGCCCTGACTCAGCGCCTCTGAGGGCGCCTGCGCGAAGGGGAGGCCAATAGGAGGGGGCAATGGGAGGGGCGAAAGGAAGGGCTATGGGGAGGAGTGAGGAAGAACTTGGAGAAAGGGAAGGGAAAGGTCATAAAAGAAAAGCCCTACTAATTGAATAGGTCAGAGATTATATATGTAAAATACCTTTTAAATCTCCACATTGTTGGCCGGCCGCGGTGGCTGACGCCTGTAATCCCAACACTTGGGAGGCCGAGGCGGGCGGAGGGTTCAAGACTAGCCTGGGCAACGTGGTGAAACCCCATCTCTACAAAAAAAAAAATACAAAAAAATTAGCCCATTGTAGTAGCGGGTTTCACATAGAATAGCTTGGGGTTTCACATAGAATAAGTAGTCGTGTAACAGGGTACAGGGCTCAGTCCTGGCCAGGGGCACGTGGGGGCAGGTGGTGGCACCTGGTCAAAGGCAAGTCTGGGCTGGGCATGCTGGCTCACTCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCGTGGTGGCGCTCGCCTGTGGTTCCAGCTATTTCAGGAGGCAGAGGCAGGAAAATTGCTTAAACCCGGGAGGTGGAGGTTGCCGTGAGTCAAGATCGCACTACTGCACTGCAGCCTGGACCACAGAGCGAGAGAGATTCCCATCACCAAAAAAAAAAAAACAAAAAACTTTTAAGCCTCACATTGTGGTACCGTTAAAGATGTAATACCATTCCTCACCCATCATAAGAGATCATAAGAGTCACAACCAACACTCCTGTAACGAGACAGCTTAAGAGAAAAGCATAACAAATTTATGTAATCAACGTTTTATGTGACATGGAAGCCTTCAGAAATTAAGACCCAAAGACCCTCTGCCTGTGGCTGCCCCTGCCAGGACCTGAACAGAGAATGATGATGACCCTCTCCAGAAGGATAAGAACCTGCCAACCGCAAGGCAGGGAAAGGAGGGGAATCTTAGCCCCTTAGGGCAGGCACTTAGAGGTCATTTACCTGTAGGGACATTGAGCCTAGGAGAGGGCAAGACGTTTATCCAAGGTCACACAACAGGTAGAGATAGAACCTGGCCCGAAGCCAGGTTTCCTGACCCAGGAAGGGCAAACCTACAGTTCCTCCAACTTCCTCCAATCTGCAATCCGCTCTGGAGAACAACCCCAGGGACTAAGGCCTCAGAACCTTCAGTTCTGCTCCCCTGCAATCTCCCTAAGTGCCCCCAGCCCCCACCACAGCTCTGACTTCCTCTGGGGAGCCAGATGGGGAAGTGTGCCCCATGCACCACAGTGGGCCATGTGAGGCAGCTGAGTGAGTTGGGACAAGATGTGGTCTCAACTGGACGCCTCACAGGTCGGCCTCAGTGGCCAGATGGAGACTTCGTGGCTGCTCCACCTTTGGGCTTCCCAAGGCCAGGCAGAAGCGTGGGGCAGACCACACAACAACTGGTTAAAAGCAAGGGAGCTAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGCACGATGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAAAAAACAAACAAAAAAAGCAAGGGAGCTGGGGCTCTAGGACAAATCCCCCATCCTTCAG
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AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGAAGGCGGAGGTTGCAGTTAGCCGAGACTACGCCATTGCACCACTCCGGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAACAAACAAACAAACAAAACAAACAAACAAAAAAAAAACGGCCAATAGCGTGCAAGACTTTCTTTTCTCTTTTTCTTTTTTTCACAGGTGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCCAACTCCTAGGCTCAAGCGATCCTCCCACCTCGGTGTCCCAATGTGCTGGGATTACAGGCATAAGCCACCGCACCCAGATGCAAGACATTTCAAAGCAAGTGAAATGAGGACCCCATGGCAAAATAACTGGACCAGAAAACCCTATATCGCCTTCAATACCTATGAGAATTAAGCTCCGATTTTTTTTAGCTTGCCCAAATTCCTATCTAAGGGGTGTAGGAATCATACCCTACAAACCATAAACTCTCATCAGATGGGTTTTATTTGACCCCATATATCGTGACTTACTTTCCAATCTGACTCTGGCATAACATTTTATAAGACAAGGAAAAAAAAATCAAAATATCTAACCCCAAAATATATTTCCTTGCCATACCTTGAAATTGCCCTGCAAAGTCTCTTGTGGGAAAAATCCACATTCTATAGAGAATCCCCTTTCCCCTATGTTTTCCTTCCTTCCTCTCCAGATCCAGGAGATAATCAACTAAGAGCCAGTCACCCTTTCATTTCCATAGAAATATTTTACAACGTGCTCGCTCTCTTAGTCGGCTACCTGAGAGCTTCCTCTGCACAATAAAACTTGGTCTCCACAATCCTTTATCTTAACTTGAATACTTTCTTTCTATTGATTCTAGGTTTTCAGATAAACTCAACCAATTATCAACTAGAAAATGTTTAAATTTACCTATGGCCTGGAAGCCCCCCGCCGCTTTGAGTTGTTTCGCCCTTCTGAACCAAACCAACGTATTTCTTAAATGTATTTGATTGATGTCTCGTGCCTCCCGAAAATATGTAAAACCCAGCTGTATCCCAACCACCTTAGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCACGGGCCATGGTCACTCATATTTGCCTCAGAATAAATCTCAAAATATTTTTACAGAGTTTGACTCGTTTTGTCAACACCTAGAATCCAGAGTAAATACATATGCAAACGTCAATATAGATGATACACATGTGCTTCCTGCAGCTTCGCTACCCTTACAAACAGGCAACTGAAGCCAACGGCCAAAGTGTCCTGCGGGACGGGGCTCCAGCCCACCTCGATCACGTGCGCCCAGCACAGGCACAACACAGCTGCCCAAGGGGTCACCCTACAAGACTCACCCACCCCCACAGTGGGAAGCGCAGCCTGAGGGAAGGCCTCGGGGCCCCAGCCGCGCAGGAACCCACTCGAGCCCCGAAGGAGATGCTGCCCAGGGCCTGGGCCGTCCTCCCGGGGGCATTTTCGCAGCCCGCCCCCCGCAGCCCCCAGCCGCCCAGAGAAAGCCAGAGAAAGCCAGCGAACGCGCCTGCGCAGTGCGCGCGCCCCCTTGCCAACTAGGGCAGGGGGAGCAGAGGGGCCAGGCCCGGCACAGCCCATTCTGGGGCAGATGGACGCTGCGAGGCACCTCCTCCCCAGGATGAGGGTCCCAGGGCTTACCCGCGCCCAGGAGGCTGGCCAGGAGGAAGAGGGCGTACAAAGCGCCGTCTGACTCCGCAGTCTGCAATGCGGAGCGTCAGCTGATCCCCCGCAGATATAAATCTGCCCTGCCCCAAAGCCGTCCAGAGCGCAGGCGCTAACCCCGCCCCATCCGGGCCTGCCCGAGCTCAACAGCGCCCTGACTCAGCGCCTCTGAGGGCGCCTGCGCGAAGGGGAGGCCAATAGGAGGGGGCAATGGGAGGGGCGAAAGGAAGGGCTATGGGGAGGAGTGAGGAAGAACTTGGAGAAAGGGAAGGGAAAGGTCATAAAAGAAAAGCCCTACTAATTGAATAGGTCAGAGATTATATATGTAAAATACCTTTTAAATCTCCACATTGTTGGCCGGCCGCGGTGGCTGACGCCTGTAATCCCAACACTTGGGAGGCCGAGGCGGGCGGAGGGTTCAAGACTAGCCTGGGCAACGTGGTGAAACCCCATCTCTACAAAAAAAAAAATACAAAAAAATTAGCCCATTGTAGTAGCGGGTTTCACATAGAATAGCTTGGGGTTTCACATAGAATAAGTAGTCGTGTAACAGGGTACAGGGCTCAGTCCTGGCCAGGGGCACGTGGGGGCAGGTGGTGGCACCTGGTCAAAGGCAAGTCTGGGCTGGGCATGCTGGCTCACTCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCGTGGTGGCGCTCGCCTGTGGTTCCAGCTATTTCAGGAGGCAGAGGCAGGAAAATTGCTTAAACCCGGGAGGTGGAGGTTGCCGTGAGTCAAGATCGCACTACTGCACTGCAGCCTGGACCACAGAGCGAGAGAGATTCCCATCACCAAAAAAAAAAAAACAAAAAACTTTTAAGCCTCACATTGTGGTACCGTTAAAGATGTAATACCATTCCTCACCCATCATAAGAGATCATAAGAGTCACAACCAACACTCCTGTAACGAGACAGCTTAAGAGAAAAGCATAACAAATTTATGTAATCAACGTTTTATGTGACATGGAAGCCTTCAGAAATTAAGACCCAAAGACCCTCTGCCTGTGGCTGCCCCTGCCAGGACCTGAACAGAGAATGATGATGACCCTCTCCAGAAGGATAAGAACCTGCCAACCGCAAGGCAGGGAAAGGAGGGGAATCTTAGCCCCTTAGGGCAGGCACTTAGAGGTCATTTACCTGTAGGGACATTGAGCCTAGGAGAGGGCAAGACGTTTATCCAAGGTCACACAACAGGTAGAGATAGAACCTGGCCCGAAGCCAGGTTTCCTGACCCAGGAAGGGCAAACCTACAGTTCCTCCAACTTCCTCCAATCTGCAATCCGCTCTGGAGAACAACCCCAGGGACTAAGGCCTCAGAACCTTCAGTTCTGCTCCCCTGCAATCTCCCTAAGTGCCCCCAGCCCCCACCACAGCTCTGACTTCCTCTGGGGAGCCAGATGGGGAAGTGTGCCCCATGCACCACAGTGGGCCATGTGAGGCAGCTGAGTGAGTTGGGACAAGATGTGGTCTCAACTGGACGCCTCACAGGTCGGCCTCAGTGGCCAGATGGAGACTTCGTGGCTGCTCCACCTTTGGGCTTCCCAAGGCCAGGCAGAAGCGTGGGGCAGACCACACAACAACTGGTTAAAAGCAAGGGAGCTAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGCACGATGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAAAAAACAAACAAAAAAAGCAAGGGAGCTGGGGCTCTAGGACAAATCCCCCATCCTTCAG
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Task1_train_14066
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The gene PSAP (prosaposin) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Sphingolipid activator protein 1 deficiency
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AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGAAGGCGGAGGTTGCAGTTAGCCGAGACTACGCCATTGCACCACTCCGGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAACAAACAAACAAACAAAACAAACAAACAAAAAAAAAACGGCCAATAGCGTGCAAGACTTTCTTTTCTCTTTTTCTTTTTTTCACAGGTGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCCAACTCCTAGGCTCAAGCGATCCTCCCACCTCGGTGTCCCAATGTGCTGGGATTACAGGCATAAGCCACCGCACCCAGATGCAAGACATTTCAAAGCAAGTGAAATGAGGACCCCATGGCAAAATAACTGGACCAGAAAACCCTATATCGCCTTCAATACCTATGAGAATTAAGCTCCGATTTTTTTTAGCTTGCCCAAATTCCTATCTAAGGGGTGTAGGAATCATACCCTACAAACCATAAACTCTCATCAGATGGGTTTTATTTGACCCCATATATCGTGACTTACTTTCCAATCTGACTCTGGCATAACATTTTATAAGACAAGGAAAAAAAAATCAAAATATCTAACCCCAAAATATATTTCCTTGCCATACCTTGAAATTGCCCTGCAAAGTCTCTTGTGGGAAAAATCCACATTCTATAGAGAATCCCCTTTCCCCTATGTTTTCCTTCCTTCCTCTCCAGATCCAGGAGATAATCAACTAAGAGCCAGTCACCCTTTCATTTCCATAGAAATATTTTACAACGTGCTCGCTCTCTTAGTCGGCTACCTGAGAGCTTCCTCTGCACAATAAAACTTGGTCTCCACAATCCTTTATCTTAACTTGAATACTTTCTTTCTATTGATTCTAGGTTTTCAGATAAACTCAACCAATTATCAACTAGAAAATGTTTAAATTTACCTATGGCCTGGAAGCCCCCCGCCGCTTTGAGTTGTTTCGCCCTTCTGAACCAAACCAACGTATTTCTTAAATGTATTTGATTGATGTCTCGTGCCTCCCGAAAATATGTAAAACCCAGCTGTATCCCAACCACCTTAGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCACGGGCCATGGTCACTCATATTTGCCTCAGAATAAATCTCAAAATATTTTTACAGAGTTTGACTCGTTTTGTCAACACCTAGAATCCAGAGTAAATACATATGCAAACGTCAATATAGATGATACACATGTGCTTCCTGCAGCTTCGCTACCCTTACAAACAGGCAACTGAAGCCAACGGCCAAAGTGTCCTGCGGGACGGGGCTCCAGCCCACCTCGATCACGTGCGCCCAGCACAGGCACAACACAGCTGCCCAAGGGGTCACCCTACAAGACTCACCCACCCCCACAGTGGGAAGCGCAGCCTGAGGGAAGGCCTCGGGGCCCCAGCCGCGCAGGAACCCACTCGAGCCCCGAAGGAGATGCTGCCCAGGGCCTGGGCCGTCCTCCCGGGGGCATTTTCGCAGCCCGCCCCCCGCAGCCCCCAGCCGCCCAGAGAAAGCCAGAGAAAGCCAGCGAACGCGCCTGCGCAGTGCGCGCGCCCCCTTGCCAACTAGGGCAGGGGGAGCAGAGGGGCCAGGCCCGGCACAGCCCATTCTGGGGCAGATGGACGCTGCGAGGCACCTCCTCCCCAGGATGAGGGTCCCAGGGCTTACCCGCGCCCAGGAGGCTGGCCAGGAGGAAGAGGGCGTACATAGCGCCGTCTGACTCCGCAGTCTGCAATGCGGAGCGTCAGCTGATCCCCCGCAGATATAAATCTGCCCTGCCCCAAAGCCGTCCAGAGCGCAGGCGCTAACCCCGCCCCATCCGGGCCTGCCCGAGCTCAACAGCGCCCTGACTCAGCGCCTCTGAGGGCGCCTGCGCGAAGGGGAGGCCAATAGGAGGGGGCAATGGGAGGGGCGAAAGGAAGGGCTATGGGGAGGAGTGAGGAAGAACTTGGAGAAAGGGAAGGGAAAGGTCATAAAAGAAAAGCCCTACTAATTGAATAGGTCAGAGATTATATATGTAAAATACCTTTTAAATCTCCACATTGTTGGCCGGCCGCGGTGGCTGACGCCTGTAATCCCAACACTTGGGAGGCCGAGGCGGGCGGAGGGTTCAAGACTAGCCTGGGCAACGTGGTGAAACCCCATCTCTACAAAAAAAAAAATACAAAAAAATTAGCCCATTGTAGTAGCGGGTTTCACATAGAATAGCTTGGGGTTTCACATAGAATAAGTAGTCGTGTAACAGGGTACAGGGCTCAGTCCTGGCCAGGGGCACGTGGGGGCAGGTGGTGGCACCTGGTCAAAGGCAAGTCTGGGCTGGGCATGCTGGCTCACTCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCGTGGTGGCGCTCGCCTGTGGTTCCAGCTATTTCAGGAGGCAGAGGCAGGAAAATTGCTTAAACCCGGGAGGTGGAGGTTGCCGTGAGTCAAGATCGCACTACTGCACTGCAGCCTGGACCACAGAGCGAGAGAGATTCCCATCACCAAAAAAAAAAAAACAAAAAACTTTTAAGCCTCACATTGTGGTACCGTTAAAGATGTAATACCATTCCTCACCCATCATAAGAGATCATAAGAGTCACAACCAACACTCCTGTAACGAGACAGCTTAAGAGAAAAGCATAACAAATTTATGTAATCAACGTTTTATGTGACATGGAAGCCTTCAGAAATTAAGACCCAAAGACCCTCTGCCTGTGGCTGCCCCTGCCAGGACCTGAACAGAGAATGATGATGACCCTCTCCAGAAGGATAAGAACCTGCCAACCGCAAGGCAGGGAAAGGAGGGGAATCTTAGCCCCTTAGGGCAGGCACTTAGAGGTCATTTACCTGTAGGGACATTGAGCCTAGGAGAGGGCAAGACGTTTATCCAAGGTCACACAACAGGTAGAGATAGAACCTGGCCCGAAGCCAGGTTTCCTGACCCAGGAAGGGCAAACCTACAGTTCCTCCAACTTCCTCCAATCTGCAATCCGCTCTGGAGAACAACCCCAGGGACTAAGGCCTCAGAACCTTCAGTTCTGCTCCCCTGCAATCTCCCTAAGTGCCCCCAGCCCCCACCACAGCTCTGACTTCCTCTGGGGAGCCAGATGGGGAAGTGTGCCCCATGCACCACAGTGGGCCATGTGAGGCAGCTGAGTGAGTTGGGACAAGATGTGGTCTCAACTGGACGCCTCACAGGTCGGCCTCAGTGGCCAGATGGAGACTTCGTGGCTGCTCCACCTTTGGGCTTCCCAAGGCCAGGCAGAAGCGTGGGGCAGACCACACAACAACTGGTTAAAAGCAAGGGAGCTAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGCACGATGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAAAAAACAAACAAAAAAAGCAAGGGAGCTGGGGCTCTAGGACAAATCCCCCATCCTTCAG
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AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGAAGGCGGAGGTTGCAGTTAGCCGAGACTACGCCATTGCACCACTCCGGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAACAAACAAACAAACAAAACAAACAAACAAAAAAAAAACGGCCAATAGCGTGCAAGACTTTCTTTTCTCTTTTTCTTTTTTTCACAGGTGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCCAACTCCTAGGCTCAAGCGATCCTCCCACCTCGGTGTCCCAATGTGCTGGGATTACAGGCATAAGCCACCGCACCCAGATGCAAGACATTTCAAAGCAAGTGAAATGAGGACCCCATGGCAAAATAACTGGACCAGAAAACCCTATATCGCCTTCAATACCTATGAGAATTAAGCTCCGATTTTTTTTAGCTTGCCCAAATTCCTATCTAAGGGGTGTAGGAATCATACCCTACAAACCATAAACTCTCATCAGATGGGTTTTATTTGACCCCATATATCGTGACTTACTTTCCAATCTGACTCTGGCATAACATTTTATAAGACAAGGAAAAAAAAATCAAAATATCTAACCCCAAAATATATTTCCTTGCCATACCTTGAAATTGCCCTGCAAAGTCTCTTGTGGGAAAAATCCACATTCTATAGAGAATCCCCTTTCCCCTATGTTTTCCTTCCTTCCTCTCCAGATCCAGGAGATAATCAACTAAGAGCCAGTCACCCTTTCATTTCCATAGAAATATTTTACAACGTGCTCGCTCTCTTAGTCGGCTACCTGAGAGCTTCCTCTGCACAATAAAACTTGGTCTCCACAATCCTTTATCTTAACTTGAATACTTTCTTTCTATTGATTCTAGGTTTTCAGATAAACTCAACCAATTATCAACTAGAAAATGTTTAAATTTACCTATGGCCTGGAAGCCCCCCGCCGCTTTGAGTTGTTTCGCCCTTCTGAACCAAACCAACGTATTTCTTAAATGTATTTGATTGATGTCTCGTGCCTCCCGAAAATATGTAAAACCCAGCTGTATCCCAACCACCTTAGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCACGGGCCATGGTCACTCATATTTGCCTCAGAATAAATCTCAAAATATTTTTACAGAGTTTGACTCGTTTTGTCAACACCTAGAATCCAGAGTAAATACATATGCAAACGTCAATATAGATGATACACATGTGCTTCCTGCAGCTTCGCTACCCTTACAAACAGGCAACTGAAGCCAACGGCCAAAGTGTCCTGCGGGACGGGGCTCCAGCCCACCTCGATCACGTGCGCCCAGCACAGGCACAACACAGCTGCCCAAGGGGTCACCCTACAAGACTCACCCACCCCCACAGTGGGAAGCGCAGCCTGAGGGAAGGCCTCGGGGCCCCAGCCGCGCAGGAACCCACTCGAGCCCCGAAGGAGATGCTGCCCAGGGCCTGGGCCGTCCTCCCGGGGGCATTTTCGCAGCCCGCCCCCCGCAGCCCCCAGCCGCCCAGAGAAAGCCAGAGAAAGCCAGCGAACGCGCCTGCGCAGTGCGCGCGCCCCCTTGCCAACTAGGGCAGGGGGAGCAGAGGGGCCAGGCCCGGCACAGCCCATTCTGGGGCAGATGGACGCTGCGAGGCACCTCCTCCCCAGGATGAGGGTCCCAGGGCTTACCCGCGCCCAGGAGGCTGGCCAGGAGGAAGAGGGCGTACACAGCGCCGTCTGACTCCGCAGTCTGCAATGCGGAGCGTCAGCTGATCCCCCGCAGATATAAATCTGCCCTGCCCCAAAGCCGTCCAGAGCGCAGGCGCTAACCCCGCCCCATCCGGGCCTGCCCGAGCTCAACAGCGCCCTGACTCAGCGCCTCTGAGGGCGCCTGCGCGAAGGGGAGGCCAATAGGAGGGGGCAATGGGAGGGGCGAAAGGAAGGGCTATGGGGAGGAGTGAGGAAGAACTTGGAGAAAGGGAAGGGAAAGGTCATAAAAGAAAAGCCCTACTAATTGAATAGGTCAGAGATTATATATGTAAAATACCTTTTAAATCTCCACATTGTTGGCCGGCCGCGGTGGCTGACGCCTGTAATCCCAACACTTGGGAGGCCGAGGCGGGCGGAGGGTTCAAGACTAGCCTGGGCAACGTGGTGAAACCCCATCTCTACAAAAAAAAAAATACAAAAAAATTAGCCCATTGTAGTAGCGGGTTTCACATAGAATAGCTTGGGGTTTCACATAGAATAAGTAGTCGTGTAACAGGGTACAGGGCTCAGTCCTGGCCAGGGGCACGTGGGGGCAGGTGGTGGCACCTGGTCAAAGGCAAGTCTGGGCTGGGCATGCTGGCTCACTCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCGTGGTGGCGCTCGCCTGTGGTTCCAGCTATTTCAGGAGGCAGAGGCAGGAAAATTGCTTAAACCCGGGAGGTGGAGGTTGCCGTGAGTCAAGATCGCACTACTGCACTGCAGCCTGGACCACAGAGCGAGAGAGATTCCCATCACCAAAAAAAAAAAAACAAAAAACTTTTAAGCCTCACATTGTGGTACCGTTAAAGATGTAATACCATTCCTCACCCATCATAAGAGATCATAAGAGTCACAACCAACACTCCTGTAACGAGACAGCTTAAGAGAAAAGCATAACAAATTTATGTAATCAACGTTTTATGTGACATGGAAGCCTTCAGAAATTAAGACCCAAAGACCCTCTGCCTGTGGCTGCCCCTGCCAGGACCTGAACAGAGAATGATGATGACCCTCTCCAGAAGGATAAGAACCTGCCAACCGCAAGGCAGGGAAAGGAGGGGAATCTTAGCCCCTTAGGGCAGGCACTTAGAGGTCATTTACCTGTAGGGACATTGAGCCTAGGAGAGGGCAAGACGTTTATCCAAGGTCACACAACAGGTAGAGATAGAACCTGGCCCGAAGCCAGGTTTCCTGACCCAGGAAGGGCAAACCTACAGTTCCTCCAACTTCCTCCAATCTGCAATCCGCTCTGGAGAACAACCCCAGGGACTAAGGCCTCAGAACCTTCAGTTCTGCTCCCCTGCAATCTCCCTAAGTGCCCCCAGCCCCCACCACAGCTCTGACTTCCTCTGGGGAGCCAGATGGGGAAGTGTGCCCCATGCACCACAGTGGGCCATGTGAGGCAGCTGAGTGAGTTGGGACAAGATGTGGTCTCAACTGGACGCCTCACAGGTCGGCCTCAGTGGCCAGATGGAGACTTCGTGGCTGCTCCACCTTTGGGCTTCCCAAGGCCAGGCAGAAGCGTGGGGCAGACCACACAACAACTGGTTAAAAGCAAGGGAGCTAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGCACGATGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAAAAAACAAACAAAAAAAGCAAGGGAGCTGGGGCTCTAGGACAAATCCCCCATCCTTCAG
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Task1_train_14067
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Here’s a variant in PSAP (prosaposin) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Metachromatic leukodystrophy
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AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGAAGGCGGAGGTTGCAGTTAGCCGAGACTACGCCATTGCACCACTCCGGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAACAAACAAACAAACAAAACAAACAAACAAAAAAAAAACGGCCAATAGCGTGCAAGACTTTCTTTTCTCTTTTTCTTTTTTTCACAGGTGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCCAACTCCTAGGCTCAAGCGATCCTCCCACCTCGGTGTCCCAATGTGCTGGGATTACAGGCATAAGCCACCGCACCCAGATGCAAGACATTTCAAAGCAAGTGAAATGAGGACCCCATGGCAAAATAACTGGACCAGAAAACCCTATATCGCCTTCAATACCTATGAGAATTAAGCTCCGATTTTTTTTAGCTTGCCCAAATTCCTATCTAAGGGGTGTAGGAATCATACCCTACAAACCATAAACTCTCATCAGATGGGTTTTATTTGACCCCATATATCGTGACTTACTTTCCAATCTGACTCTGGCATAACATTTTATAAGACAAGGAAAAAAAAATCAAAATATCTAACCCCAAAATATATTTCCTTGCCATACCTTGAAATTGCCCTGCAAAGTCTCTTGTGGGAAAAATCCACATTCTATAGAGAATCCCCTTTCCCCTATGTTTTCCTTCCTTCCTCTCCAGATCCAGGAGATAATCAACTAAGAGCCAGTCACCCTTTCATTTCCATAGAAATATTTTACAACGTGCTCGCTCTCTTAGTCGGCTACCTGAGAGCTTCCTCTGCACAATAAAACTTGGTCTCCACAATCCTTTATCTTAACTTGAATACTTTCTTTCTATTGATTCTAGGTTTTCAGATAAACTCAACCAATTATCAACTAGAAAATGTTTAAATTTACCTATGGCCTGGAAGCCCCCCGCCGCTTTGAGTTGTTTCGCCCTTCTGAACCAAACCAACGTATTTCTTAAATGTATTTGATTGATGTCTCGTGCCTCCCGAAAATATGTAAAACCCAGCTGTATCCCAACCACCTTAGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCACGGGCCATGGTCACTCATATTTGCCTCAGAATAAATCTCAAAATATTTTTACAGAGTTTGACTCGTTTTGTCAACACCTAGAATCCAGAGTAAATACATATGCAAACGTCAATATAGATGATACACATGTGCTTCCTGCAGCTTCGCTACCCTTACAAACAGGCAACTGAAGCCAACGGCCAAAGTGTCCTGCGGGACGGGGCTCCAGCCCACCTCGATCACGTGCGCCCAGCACAGGCACAACACAGCTGCCCAAGGGGTCACCCTACAAGACTCACCCACCCCCACAGTGGGAAGCGCAGCCTGAGGGAAGGCCTCGGGGCCCCAGCCGCGCAGGAACCCACTCGAGCCCCGAAGGAGATGCTGCCCAGGGCCTGGGCCGTCCTCCCGGGGGCATTTTCGCAGCCCGCCCCCCGCAGCCCCCAGCCGCCCAGAGAAAGCCAGAGAAAGCCAGCGAACGCGCCTGCGCAGTGCGCGCGCCCCCTTGCCAACTAGGGCAGGGGGAGCAGAGGGGCCAGGCCCGGCACAGCCCATTCTGGGGCAGATGGACGCTGCGAGGCACCTCCTCCCCAGGATGAGGGTCCCAGGGCTTACCCGCGCCCAGGAGGCTGGCCAGGAGGAAGAGGGCGTACATAGCGCCGTCTGACTCCGCAGTCTGCAATGCGGAGCGTCAGCTGATCCCCCGCAGATATAAATCTGCCCTGCCCCAAAGCCGTCCAGAGCGCAGGCGCTAACCCCGCCCCATCCGGGCCTGCCCGAGCTCAACAGCGCCCTGACTCAGCGCCTCTGAGGGCGCCTGCGCGAAGGGGAGGCCAATAGGAGGGGGCAATGGGAGGGGCGAAAGGAAGGGCTATGGGGAGGAGTGAGGAAGAACTTGGAGAAAGGGAAGGGAAAGGTCATAAAAGAAAAGCCCTACTAATTGAATAGGTCAGAGATTATATATGTAAAATACCTTTTAAATCTCCACATTGTTGGCCGGCCGCGGTGGCTGACGCCTGTAATCCCAACACTTGGGAGGCCGAGGCGGGCGGAGGGTTCAAGACTAGCCTGGGCAACGTGGTGAAACCCCATCTCTACAAAAAAAAAAATACAAAAAAATTAGCCCATTGTAGTAGCGGGTTTCACATAGAATAGCTTGGGGTTTCACATAGAATAAGTAGTCGTGTAACAGGGTACAGGGCTCAGTCCTGGCCAGGGGCACGTGGGGGCAGGTGGTGGCACCTGGTCAAAGGCAAGTCTGGGCTGGGCATGCTGGCTCACTCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCGTGGTGGCGCTCGCCTGTGGTTCCAGCTATTTCAGGAGGCAGAGGCAGGAAAATTGCTTAAACCCGGGAGGTGGAGGTTGCCGTGAGTCAAGATCGCACTACTGCACTGCAGCCTGGACCACAGAGCGAGAGAGATTCCCATCACCAAAAAAAAAAAAACAAAAAACTTTTAAGCCTCACATTGTGGTACCGTTAAAGATGTAATACCATTCCTCACCCATCATAAGAGATCATAAGAGTCACAACCAACACTCCTGTAACGAGACAGCTTAAGAGAAAAGCATAACAAATTTATGTAATCAACGTTTTATGTGACATGGAAGCCTTCAGAAATTAAGACCCAAAGACCCTCTGCCTGTGGCTGCCCCTGCCAGGACCTGAACAGAGAATGATGATGACCCTCTCCAGAAGGATAAGAACCTGCCAACCGCAAGGCAGGGAAAGGAGGGGAATCTTAGCCCCTTAGGGCAGGCACTTAGAGGTCATTTACCTGTAGGGACATTGAGCCTAGGAGAGGGCAAGACGTTTATCCAAGGTCACACAACAGGTAGAGATAGAACCTGGCCCGAAGCCAGGTTTCCTGACCCAGGAAGGGCAAACCTACAGTTCCTCCAACTTCCTCCAATCTGCAATCCGCTCTGGAGAACAACCCCAGGGACTAAGGCCTCAGAACCTTCAGTTCTGCTCCCCTGCAATCTCCCTAAGTGCCCCCAGCCCCCACCACAGCTCTGACTTCCTCTGGGGAGCCAGATGGGGAAGTGTGCCCCATGCACCACAGTGGGCCATGTGAGGCAGCTGAGTGAGTTGGGACAAGATGTGGTCTCAACTGGACGCCTCACAGGTCGGCCTCAGTGGCCAGATGGAGACTTCGTGGCTGCTCCACCTTTGGGCTTCCCAAGGCCAGGCAGAAGCGTGGGGCAGACCACACAACAACTGGTTAAAAGCAAGGGAGCTAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGCACGATGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAAAAAACAAACAAAAAAAGCAAGGGAGCTGGGGCTCTAGGACAAATCCCCCATCCTTCAG
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AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGAAGGCGGAGGTTGCAGTTAGCCGAGACTACGCCATTGCACCACTCCGGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAACAAACAAACAAACAAAACAAACAAACAAAAAAAAAACGGCCAATAGCGTGCAAGACTTTCTTTTCTCTTTTTCTTTTTTTCACAGGTGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCCAACTCCTAGGCTCAAGCGATCCTCCCACCTCGGTGTCCCAATGTGCTGGGATTACAGGCATAAGCCACCGCACCCAGATGCAAGACATTTCAAAGCAAGTGAAATGAGGACCCCATGGCAAAATAACTGGACCAGAAAACCCTATATCGCCTTCAATACCTATGAGAATTAAGCTCCGATTTTTTTTAGCTTGCCCAAATTCCTATCTAAGGGGTGTAGGAATCATACCCTACAAACCATAAACTCTCATCAGATGGGTTTTATTTGACCCCATATATCGTGACTTACTTTCCAATCTGACTCTGGCATAACATTTTATAAGACAAGGAAAAAAAAATCAAAATATCTAACCCCAAAATATATTTCCTTGCCATACCTTGAAATTGCCCTGCAAAGTCTCTTGTGGGAAAAATCCACATTCTATAGAGAATCCCCTTTCCCCTATGTTTTCCTTCCTTCCTCTCCAGATCCAGGAGATAATCAACTAAGAGCCAGTCACCCTTTCATTTCCATAGAAATATTTTACAACGTGCTCGCTCTCTTAGTCGGCTACCTGAGAGCTTCCTCTGCACAATAAAACTTGGTCTCCACAATCCTTTATCTTAACTTGAATACTTTCTTTCTATTGATTCTAGGTTTTCAGATAAACTCAACCAATTATCAACTAGAAAATGTTTAAATTTACCTATGGCCTGGAAGCCCCCCGCCGCTTTGAGTTGTTTCGCCCTTCTGAACCAAACCAACGTATTTCTTAAATGTATTTGATTGATGTCTCGTGCCTCCCGAAAATATGTAAAACCCAGCTGTATCCCAACCACCTTAGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCACGGGCCATGGTCACTCATATTTGCCTCAGAATAAATCTCAAAATATTTTTACAGAGTTTGACTCGTTTTGTCAACACCTAGAATCCAGAGTAAATACATATGCAAACGTCAATATAGATGATACACATGTGCTTCCTGCAGCTTCGCTACCCTTACAAACAGGCAACTGAAGCCAACGGCCAAAGTGTCCTGCGGGACGGGGCTCCAGCCCACCTCGATCACGTGCGCCCAGCACAGGCACAACACAGCTGCCCAAGGGGTCACCCTACAAGACTCACCCACCCCCACAGTGGGAAGCGCAGCCTGAGGGAAGGCCTCGGGGCCCCAGCCGCGCAGGAACCCACTCGAGCCCCGAAGGAGATGCTGCCCAGGGCCTGGGCCGTCCTCCCGGGGGCATTTTCGCAGCCCGCCCCCCGCAGCCCCCAGCCGCCCAGAGAAAGCCAGAGAAAGCCAGCGAACGCGCCTGCGCAGTGCGCGCGCCCCCTTGCCAACTAGGGCAGGGGGAGCAGAGGGGCCAGGCCCGGCACAGCCCATTCTGGGGCAGATGGACGCTGCGAGGCACCTCCTCCCCAGGATGAGGGTCCCAGGGCTTACCCGCGCCCAGGAGGCTGGCCAGGAGGAAGAGGGCGTACACAGCGCCGTCTGACTCCGCAGTCTGCAATGCGGAGCGTCAGCTGATCCCCCGCAGATATAAATCTGCCCTGCCCCAAAGCCGTCCAGAGCGCAGGCGCTAACCCCGCCCCATCCGGGCCTGCCCGAGCTCAACAGCGCCCTGACTCAGCGCCTCTGAGGGCGCCTGCGCGAAGGGGAGGCCAATAGGAGGGGGCAATGGGAGGGGCGAAAGGAAGGGCTATGGGGAGGAGTGAGGAAGAACTTGGAGAAAGGGAAGGGAAAGGTCATAAAAGAAAAGCCCTACTAATTGAATAGGTCAGAGATTATATATGTAAAATACCTTTTAAATCTCCACATTGTTGGCCGGCCGCGGTGGCTGACGCCTGTAATCCCAACACTTGGGAGGCCGAGGCGGGCGGAGGGTTCAAGACTAGCCTGGGCAACGTGGTGAAACCCCATCTCTACAAAAAAAAAAATACAAAAAAATTAGCCCATTGTAGTAGCGGGTTTCACATAGAATAGCTTGGGGTTTCACATAGAATAAGTAGTCGTGTAACAGGGTACAGGGCTCAGTCCTGGCCAGGGGCACGTGGGGGCAGGTGGTGGCACCTGGTCAAAGGCAAGTCTGGGCTGGGCATGCTGGCTCACTCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCGTGGTGGCGCTCGCCTGTGGTTCCAGCTATTTCAGGAGGCAGAGGCAGGAAAATTGCTTAAACCCGGGAGGTGGAGGTTGCCGTGAGTCAAGATCGCACTACTGCACTGCAGCCTGGACCACAGAGCGAGAGAGATTCCCATCACCAAAAAAAAAAAAACAAAAAACTTTTAAGCCTCACATTGTGGTACCGTTAAAGATGTAATACCATTCCTCACCCATCATAAGAGATCATAAGAGTCACAACCAACACTCCTGTAACGAGACAGCTTAAGAGAAAAGCATAACAAATTTATGTAATCAACGTTTTATGTGACATGGAAGCCTTCAGAAATTAAGACCCAAAGACCCTCTGCCTGTGGCTGCCCCTGCCAGGACCTGAACAGAGAATGATGATGACCCTCTCCAGAAGGATAAGAACCTGCCAACCGCAAGGCAGGGAAAGGAGGGGAATCTTAGCCCCTTAGGGCAGGCACTTAGAGGTCATTTACCTGTAGGGACATTGAGCCTAGGAGAGGGCAAGACGTTTATCCAAGGTCACACAACAGGTAGAGATAGAACCTGGCCCGAAGCCAGGTTTCCTGACCCAGGAAGGGCAAACCTACAGTTCCTCCAACTTCCTCCAATCTGCAATCCGCTCTGGAGAACAACCCCAGGGACTAAGGCCTCAGAACCTTCAGTTCTGCTCCCCTGCAATCTCCCTAAGTGCCCCCAGCCCCCACCACAGCTCTGACTTCCTCTGGGGAGCCAGATGGGGAAGTGTGCCCCATGCACCACAGTGGGCCATGTGAGGCAGCTGAGTGAGTTGGGACAAGATGTGGTCTCAACTGGACGCCTCACAGGTCGGCCTCAGTGGCCAGATGGAGACTTCGTGGCTGCTCCACCTTTGGGCTTCCCAAGGCCAGGCAGAAGCGTGGGGCAGACCACACAACAACTGGTTAAAAGCAAGGGAGCTAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGCACGATGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAAAAAACAAACAAAAAAAGCAAGGGAGCTGGGGCTCTAGGACAAATCCCCCATCCTTCAG
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Task1_train_14068
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This gene mutation involves PSAP (prosaposin) on Chromosome 10. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Parkinson disease 24, autosomal dominant, susceptibility to
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AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGAAGGCGGAGGTTGCAGTTAGCCGAGACTACGCCATTGCACCACTCCGGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAACAAACAAACAAACAAAACAAACAAACAAAAAAAAAACGGCCAATAGCGTGCAAGACTTTCTTTTCTCTTTTTCTTTTTTTCACAGGTGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCCAACTCCTAGGCTCAAGCGATCCTCCCACCTCGGTGTCCCAATGTGCTGGGATTACAGGCATAAGCCACCGCACCCAGATGCAAGACATTTCAAAGCAAGTGAAATGAGGACCCCATGGCAAAATAACTGGACCAGAAAACCCTATATCGCCTTCAATACCTATGAGAATTAAGCTCCGATTTTTTTTAGCTTGCCCAAATTCCTATCTAAGGGGTGTAGGAATCATACCCTACAAACCATAAACTCTCATCAGATGGGTTTTATTTGACCCCATATATCGTGACTTACTTTCCAATCTGACTCTGGCATAACATTTTATAAGACAAGGAAAAAAAAATCAAAATATCTAACCCCAAAATATATTTCCTTGCCATACCTTGAAATTGCCCTGCAAAGTCTCTTGTGGGAAAAATCCACATTCTATAGAGAATCCCCTTTCCCCTATGTTTTCCTTCCTTCCTCTCCAGATCCAGGAGATAATCAACTAAGAGCCAGTCACCCTTTCATTTCCATAGAAATATTTTACAACGTGCTCGCTCTCTTAGTCGGCTACCTGAGAGCTTCCTCTGCACAATAAAACTTGGTCTCCACAATCCTTTATCTTAACTTGAATACTTTCTTTCTATTGATTCTAGGTTTTCAGATAAACTCAACCAATTATCAACTAGAAAATGTTTAAATTTACCTATGGCCTGGAAGCCCCCCGCCGCTTTGAGTTGTTTCGCCCTTCTGAACCAAACCAACGTATTTCTTAAATGTATTTGATTGATGTCTCGTGCCTCCCGAAAATATGTAAAACCCAGCTGTATCCCAACCACCTTAGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCACGGGCCATGGTCACTCATATTTGCCTCAGAATAAATCTCAAAATATTTTTACAGAGTTTGACTCGTTTTGTCAACACCTAGAATCCAGAGTAAATACATATGCAAACGTCAATATAGATGATACACATGTGCTTCCTGCAGCTTCGCTACCCTTACAAACAGGCAACTGAAGCCAACGGCCAAAGTGTCCTGCGGGACGGGGCTCCAGCCCACCTCGATCACGTGCGCCCAGCACAGGCACAACACAGCTGCCCAAGGGGTCACCCTACAAGACTCACCCACCCCCACAGTGGGAAGCGCAGCCTGAGGGAAGGCCTCGGGGCCCCAGCCGCGCAGGAACCCACTCGAGCCCCGAAGGAGATGCTGCCCAGGGCCTGGGCCGTCCTCCCGGGGGCATTTTCGCAGCCCGCCCCCCGCAGCCCCCAGCCGCCCAGAGAAAGCCAGAGAAAGCCAGCGAACGCGCCTGCGCAGTGCGCGCGCCCCCTTGCCAACTAGGGCAGGGGGAGCAGAGGGGCCAGGCCCGGCACAGCCCATTCTGGGGCAGATGGACGCTGCGAGGCACCTCCTCCCCAGGATGAGGGTCCCAGGGCTTACCCGCGCCCAGGAGGCTGGCCAGGAGGAAGAGGGCGTACATAGCGCCGTCTGACTCCGCAGTCTGCAATGCGGAGCGTCAGCTGATCCCCCGCAGATATAAATCTGCCCTGCCCCAAAGCCGTCCAGAGCGCAGGCGCTAACCCCGCCCCATCCGGGCCTGCCCGAGCTCAACAGCGCCCTGACTCAGCGCCTCTGAGGGCGCCTGCGCGAAGGGGAGGCCAATAGGAGGGGGCAATGGGAGGGGCGAAAGGAAGGGCTATGGGGAGGAGTGAGGAAGAACTTGGAGAAAGGGAAGGGAAAGGTCATAAAAGAAAAGCCCTACTAATTGAATAGGTCAGAGATTATATATGTAAAATACCTTTTAAATCTCCACATTGTTGGCCGGCCGCGGTGGCTGACGCCTGTAATCCCAACACTTGGGAGGCCGAGGCGGGCGGAGGGTTCAAGACTAGCCTGGGCAACGTGGTGAAACCCCATCTCTACAAAAAAAAAAATACAAAAAAATTAGCCCATTGTAGTAGCGGGTTTCACATAGAATAGCTTGGGGTTTCACATAGAATAAGTAGTCGTGTAACAGGGTACAGGGCTCAGTCCTGGCCAGGGGCACGTGGGGGCAGGTGGTGGCACCTGGTCAAAGGCAAGTCTGGGCTGGGCATGCTGGCTCACTCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCGTGGTGGCGCTCGCCTGTGGTTCCAGCTATTTCAGGAGGCAGAGGCAGGAAAATTGCTTAAACCCGGGAGGTGGAGGTTGCCGTGAGTCAAGATCGCACTACTGCACTGCAGCCTGGACCACAGAGCGAGAGAGATTCCCATCACCAAAAAAAAAAAAACAAAAAACTTTTAAGCCTCACATTGTGGTACCGTTAAAGATGTAATACCATTCCTCACCCATCATAAGAGATCATAAGAGTCACAACCAACACTCCTGTAACGAGACAGCTTAAGAGAAAAGCATAACAAATTTATGTAATCAACGTTTTATGTGACATGGAAGCCTTCAGAAATTAAGACCCAAAGACCCTCTGCCTGTGGCTGCCCCTGCCAGGACCTGAACAGAGAATGATGATGACCCTCTCCAGAAGGATAAGAACCTGCCAACCGCAAGGCAGGGAAAGGAGGGGAATCTTAGCCCCTTAGGGCAGGCACTTAGAGGTCATTTACCTGTAGGGACATTGAGCCTAGGAGAGGGCAAGACGTTTATCCAAGGTCACACAACAGGTAGAGATAGAACCTGGCCCGAAGCCAGGTTTCCTGACCCAGGAAGGGCAAACCTACAGTTCCTCCAACTTCCTCCAATCTGCAATCCGCTCTGGAGAACAACCCCAGGGACTAAGGCCTCAGAACCTTCAGTTCTGCTCCCCTGCAATCTCCCTAAGTGCCCCCAGCCCCCACCACAGCTCTGACTTCCTCTGGGGAGCCAGATGGGGAAGTGTGCCCCATGCACCACAGTGGGCCATGTGAGGCAGCTGAGTGAGTTGGGACAAGATGTGGTCTCAACTGGACGCCTCACAGGTCGGCCTCAGTGGCCAGATGGAGACTTCGTGGCTGCTCCACCTTTGGGCTTCCCAAGGCCAGGCAGAAGCGTGGGGCAGACCACACAACAACTGGTTAAAAGCAAGGGAGCTAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGCACGATGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAAAAAACAAACAAAAAAAGCAAGGGAGCTGGGGCTCTAGGACAAATCCCCCATCCTTCAG
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AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGAAGGCGGAGGTTGCAGTTAGCCGAGACTACGCCATTGCACCACTCCGGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAACAAACAAACAAACAAAACAAACAAACAAAAAAAAAACGGCCAATAGCGTGCAAGACTTTCTTTTCTCTTTTTCTTTTTTTCACAGGTGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCCAACTCCTAGGCTCAAGCGATCCTCCCACCTCGGTGTCCCAATGTGCTGGGATTACAGGCATAAGCCACCGCACCCAGATGCAAGACATTTCAAAGCAAGTGAAATGAGGACCCCATGGCAAAATAACTGGACCAGAAAACCCTATATCGCCTTCAATACCTATGAGAATTAAGCTCCGATTTTTTTTAGCTTGCCCAAATTCCTATCTAAGGGGTGTAGGAATCATACCCTACAAACCATAAACTCTCATCAGATGGGTTTTATTTGACCCCATATATCGTGACTTACTTTCCAATCTGACTCTGGCATAACATTTTATAAGACAAGGAAAAAAAAATCAAAATATCTAACCCCAAAATATATTTCCTTGCCATACCTTGAAATTGCCCTGCAAAGTCTCTTGTGGGAAAAATCCACATTCTATAGAGAATCCCCTTTCCCCTATGTTTTCCTTCCTTCCTCTCCAGATCCAGGAGATAATCAACTAAGAGCCAGTCACCCTTTCATTTCCATAGAAATATTTTACAACGTGCTCGCTCTCTTAGTCGGCTACCTGAGAGCTTCCTCTGCACAATAAAACTTGGTCTCCACAATCCTTTATCTTAACTTGAATACTTTCTTTCTATTGATTCTAGGTTTTCAGATAAACTCAACCAATTATCAACTAGAAAATGTTTAAATTTACCTATGGCCTGGAAGCCCCCCGCCGCTTTGAGTTGTTTCGCCCTTCTGAACCAAACCAACGTATTTCTTAAATGTATTTGATTGATGTCTCGTGCCTCCCGAAAATATGTAAAACCCAGCTGTATCCCAACCACCTTAGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCACGGGCCATGGTCACTCATATTTGCCTCAGAATAAATCTCAAAATATTTTTACAGAGTTTGACTCGTTTTGTCAACACCTAGAATCCAGAGTAAATACATATGCAAACGTCAATATAGATGATACACATGTGCTTCCTGCAGCTTCGCTACCCTTACAAACAGGCAACTGAAGCCAACGGCCAAAGTGTCCTGCGGGACGGGGCTCCAGCCCACCTCGATCACGTGCGCCCAGCACAGGCACAACACAGCTGCCCAAGGGGTCACCCTACAAGACTCACCCACCCCCACAGTGGGAAGCGCAGCCTGAGGGAAGGCCTCGGGGCCCCAGCCGCGCAGGAACCCACTCGAGCCCCGAAGGAGATGCTGCCCAGGGCCTGGGCCGTCCTCCCGGGGGCATTTTCGCAGCCCGCCCCCCGCAGCCCCCAGCCGCCCAGAGAAAGCCAGAGAAAGCCAGCGAACGCGCCTGCGCAGTGCGCGCGCCCCCTTGCCAACTAGGGCAGGGGGAGCAGAGGGGCCAGGCCCGGCACAGCCCATTCTGGGGCAGATGGACGCTGCGAGGCACCTCCTCCCCAGGATGAGGGTCCCAGGGCTTACCCGCGCCCAGGAGGCTGGCCAGGAGGAAGAGGGCGTACACAGCGCCGTCTGACTCCGCAGTCTGCAATGCGGAGCGTCAGCTGATCCCCCGCAGATATAAATCTGCCCTGCCCCAAAGCCGTCCAGAGCGCAGGCGCTAACCCCGCCCCATCCGGGCCTGCCCGAGCTCAACAGCGCCCTGACTCAGCGCCTCTGAGGGCGCCTGCGCGAAGGGGAGGCCAATAGGAGGGGGCAATGGGAGGGGCGAAAGGAAGGGCTATGGGGAGGAGTGAGGAAGAACTTGGAGAAAGGGAAGGGAAAGGTCATAAAAGAAAAGCCCTACTAATTGAATAGGTCAGAGATTATATATGTAAAATACCTTTTAAATCTCCACATTGTTGGCCGGCCGCGGTGGCTGACGCCTGTAATCCCAACACTTGGGAGGCCGAGGCGGGCGGAGGGTTCAAGACTAGCCTGGGCAACGTGGTGAAACCCCATCTCTACAAAAAAAAAAATACAAAAAAATTAGCCCATTGTAGTAGCGGGTTTCACATAGAATAGCTTGGGGTTTCACATAGAATAAGTAGTCGTGTAACAGGGTACAGGGCTCAGTCCTGGCCAGGGGCACGTGGGGGCAGGTGGTGGCACCTGGTCAAAGGCAAGTCTGGGCTGGGCATGCTGGCTCACTCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCGTGGTGGCGCTCGCCTGTGGTTCCAGCTATTTCAGGAGGCAGAGGCAGGAAAATTGCTTAAACCCGGGAGGTGGAGGTTGCCGTGAGTCAAGATCGCACTACTGCACTGCAGCCTGGACCACAGAGCGAGAGAGATTCCCATCACCAAAAAAAAAAAAACAAAAAACTTTTAAGCCTCACATTGTGGTACCGTTAAAGATGTAATACCATTCCTCACCCATCATAAGAGATCATAAGAGTCACAACCAACACTCCTGTAACGAGACAGCTTAAGAGAAAAGCATAACAAATTTATGTAATCAACGTTTTATGTGACATGGAAGCCTTCAGAAATTAAGACCCAAAGACCCTCTGCCTGTGGCTGCCCCTGCCAGGACCTGAACAGAGAATGATGATGACCCTCTCCAGAAGGATAAGAACCTGCCAACCGCAAGGCAGGGAAAGGAGGGGAATCTTAGCCCCTTAGGGCAGGCACTTAGAGGTCATTTACCTGTAGGGACATTGAGCCTAGGAGAGGGCAAGACGTTTATCCAAGGTCACACAACAGGTAGAGATAGAACCTGGCCCGAAGCCAGGTTTCCTGACCCAGGAAGGGCAAACCTACAGTTCCTCCAACTTCCTCCAATCTGCAATCCGCTCTGGAGAACAACCCCAGGGACTAAGGCCTCAGAACCTTCAGTTCTGCTCCCCTGCAATCTCCCTAAGTGCCCCCAGCCCCCACCACAGCTCTGACTTCCTCTGGGGAGCCAGATGGGGAAGTGTGCCCCATGCACCACAGTGGGCCATGTGAGGCAGCTGAGTGAGTTGGGACAAGATGTGGTCTCAACTGGACGCCTCACAGGTCGGCCTCAGTGGCCAGATGGAGACTTCGTGGCTGCTCCACCTTTGGGCTTCCCAAGGCCAGGCAGAAGCGTGGGGCAGACCACACAACAACTGGTTAAAAGCAAGGGAGCTAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGCACGATGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAACAGCGAAACTCCGTCTCAAAAAAAAAACAAACAAAAAAAGCAAGGGAGCTGGGGCTCTAGGACAAATCCCCCATCCTTCAG
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Task1_train_14069
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Gene CHST3 (carbohydrate sulfotransferase 3) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations
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CAAAGGTTATTCTTTTCCGTGCACAGGCCTTTGATGTGTGAGGTCAAGGGAGAAACTGATGGAGGTGGGATGGATGAACCCGATGGTTCATTAGCATTTTAAATGACCTATTAAAGAGACCTTCAGTGTCTCTGGGGCACAGTCTGTCTGGAGAGTGGGTCTGGGGTCCTGGCTGCTAACCAGGGCCGAGATCCTCAAAAGTCTGGTGGAGAGACATCCTCTGCATTCCTCGTGTACAGACAAGGGTGTTCTGACCACCTGTCTCTCCGCAGGACAAGGGTGTCCCCCACCTGAAGACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGCTGAGTGTCCAAGGCTGGCCCGAGGAGCCCCCACGGCCCCACCTTTCCCCATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCA
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CAAAGGTTATTCTTTTCCGTGCACAGGCCTTTGATGTGTGAGGTCAAGGGAGAAACTGATGGAGGTGGGATGGATGAACCCGATGGTTCATTAGCATTTTAAATGACCTATTAAAGAGACCTTCAGTGTCTCTGGGGCACAGTCTGTCTGGAGAGTGGGTCTGGGGTCCTGGCTGCTAACCAGGGCCGAGATCCTCAAAAGTCTGGTGGAGAGACATCCTCTGCATTCCTCGTGTACAGACAAGGGTGTTCTGACCACCTGTCTCTCCGCAGGACAAGGGTGTCCCCCACCTGAAGACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGCTGAGTGTCCAAGGCTGGCCCGAGGAGCCCCCACGGCCCCACCTTTCCCCATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACTTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCA
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Task1_train_14070
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With a mutation on Chromosome 10 in gene CHST3 (carbohydrate sulfotransferase 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations
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TCTTTTCCGTGCACAGGCCTTTGATGTGTGAGGTCAAGGGAGAAACTGATGGAGGTGGGATGGATGAACCCGATGGTTCATTAGCATTTTAAATGACCTATTAAAGAGACCTTCAGTGTCTCTGGGGCACAGTCTGTCTGGAGAGTGGGTCTGGGGTCCTGGCTGCTAACCAGGGCCGAGATCCTCAAAAGTCTGGTGGAGAGACATCCTCTGCATTCCTCGTGTACAGACAAGGGTGTTCTGACCACCTGTCTCTCCGCAGGACAAGGGTGTCCCCCACCTGAAGACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGCTGAGTGTCCAAGGCTGGCCCGAGGAGCCCCCACGGCCCCACCTTTCCCCATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCACGGGGCCTTC
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TCTTTTCCGTGCACAGGCCTTTGATGTGTGAGGTCAAGGGAGAAACTGATGGAGGTGGGATGGATGAACCCGATGGTTCATTAGCATTTTAAATGACCTATTAAAGAGACCTTCAGTGTCTCTGGGGCACAGTCTGTCTGGAGAGTGGGTCTGGGGTCCTGGCTGCTAACCAGGGCCGAGATCCTCAAAAGTCTGGTGGAGAGACATCCTCTGCATTCCTCGTGTACAGACAAGGGTGTTCTGACCACCTGTCTCTCCGCAGGACAAGGGTGTCCCCCACCTGAAGACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGCTGAGTGTCCAAGGCTGGCCCGAGGAGCCCCCACGGCCCCACCTTTCCCCATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCTGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCACGGGGCCTTC
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Task1_train_14071
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Assess the clinical impact of this variant on gene CHST3 (carbohydrate sulfotransferase 3), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations
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ACAGGCCTTTGATGTGTGAGGTCAAGGGAGAAACTGATGGAGGTGGGATGGATGAACCCGATGGTTCATTAGCATTTTAAATGACCTATTAAAGAGACCTTCAGTGTCTCTGGGGCACAGTCTGTCTGGAGAGTGGGTCTGGGGTCCTGGCTGCTAACCAGGGCCGAGATCCTCAAAAGTCTGGTGGAGAGACATCCTCTGCATTCCTCGTGTACAGACAAGGGTGTTCTGACCACCTGTCTCTCCGCAGGACAAGGGTGTCCCCCACCTGAAGACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGCTGAGTGTCCAAGGCTGGCCCGAGGAGCCCCCACGGCCCCACCTTTCCCCATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCACGGGGCCTTCCATTTCCAGCCA
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ACAGGCCTTTGATGTGTGAGGTCAAGGGAGAAACTGATGGAGGTGGGATGGATGAACCCGATGGTTCATTAGCATTTTAAATGACCTATTAAAGAGACCTTCAGTGTCTCTGGGGCACAGTCTGTCTGGAGAGTGGGTCTGGGGTCCTGGCTGCTAACCAGGGCCGAGATCCTCAAAAGTCTGGTGGAGAGACATCCTCTGCATTCCTCGTGTACAGACAAGGGTGTTCTGACCACCTGTCTCTCCGCAGGACAAGGGTGTCCCCCACCTGAAGACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGCTGAGTGTCCAAGGCTGGCCCGAGGAGCCCCCACGGCCCCACCTTTCCCCATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACAGCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCACGGGGCCTTCCATTTCCAGCCA
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Task1_train_14072
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This variant lies on Chromosome 10 and affects the gene CHST3 (carbohydrate sulfotransferase 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations
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GGCCGAGATCCTCAAAAGTCTGGTGGAGAGACATCCTCTGCATTCCTCGTGTACAGACAAGGGTGTTCTGACCACCTGTCTCTCCGCAGGACAAGGGTGTCCCCCACCTGAAGACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGCTGAGTGTCCAAGGCTGGCCCGAGGAGCCCCCACGGCCCCACCTTTCCCCATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCACGGGGCCTTCCATTTCCAGCCAGGCCTCATCTGGGGTAGGGCCAAGAGGAAAGTACAGAGTGCCCGTGGGGGAGAAGTCCCACCAGGATGCCCCCCCTCCCCTGAGAAGCCCGCCTTCTCCCTCGTGGACAGGAGTCAGCCAGTTGGTTGCTGTGGTTACAGCCAGTGCCTGGAATTCCTCCT
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GGCCGAGATCCTCAAAAGTCTGGTGGAGAGACATCCTCTGCATTCCTCGTGTACAGACAAGGGTGTTCTGACCACCTGTCTCTCCGCAGGACAAGGGTGTCCCCCACCTGAAGACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGCTGAGTGTCCAAGGCTGGCCCGAGGAGCCCCCACGGCCCCACCTTTCCCCATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCTGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCACGGGGCCTTCCATTTCCAGCCAGGCCTCATCTGGGGTAGGGCCAAGAGGAAAGTACAGAGTGCCCGTGGGGGAGAAGTCCCACCAGGATGCCCCCCCTCCCCTGAGAAGCCCGCCTTCTCCCTCGTGGACAGGAGTCAGCCAGTTGGTTGCTGTGGTTACAGCCAGTGCCTGGAATTCCTCCT
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Task1_train_14073
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A variant has been detected on Chromosome 10 in CHST3 (carbohydrate sulfotransferase 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations
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GACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGCTGAGTGTCCAAGGCTGGCCCGAGGAGCCCCCACGGCCCCACCTTTCCCCATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCACGGGGCCTTCCATTTCCAGCCAGGCCTCATCTGGGGTAGGGCCAAGAGGAAAGTACAGAGTGCCCGTGGGGGAGAAGTCCCACCAGGATGCCCCCCCTCCCCTGAGAAGCCCGCCTTCTCCCTCGTGGACAGGAGTCAGCCAGTTGGTTGCTGTGGTTACAGCCAGTGCCTGGAATTCCTCCTTAGGGCCCTGGGAAGAGTATTGCTTAACGCAGGATGTGCTGGGTGTTTTGTTTCGGGCTTTTATTTATGGCTTGGTGTCTTTCTTGTTTCATGGCTGTGTTTTTGCTTTTGT
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GACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGCTGAGTGTCCAAGGCTGGCCCGAGGAGCCCCCACGGCCCCACCTTTCCCCATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCCGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCACGGGGCCTTCCATTTCCAGCCAGGCCTCATCTGGGGTAGGGCCAAGAGGAAAGTACAGAGTGCCCGTGGGGGAGAAGTCCCACCAGGATGCCCCCCCTCCCCTGAGAAGCCCGCCTTCTCCCTCGTGGACAGGAGTCAGCCAGTTGGTTGCTGTGGTTACAGCCAGTGCCTGGAATTCCTCCTTAGGGCCCTGGGAAGAGTATTGCTTAACGCAGGATGTGCTGGGTGTTTTGTTTCGGGCTTTTATTTATGGCTTGGTGTCTTTCTTGTTTCATGGCTGTGTTTTTGCTTTTGT
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Task1_train_14074
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This variant affects the gene CHST3 (carbohydrate sulfotransferase 3) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations
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CCCATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCACGGGGCCTTCCATTTCCAGCCAGGCCTCATCTGGGGTAGGGCCAAGAGGAAAGTACAGAGTGCCCGTGGGGGAGAAGTCCCACCAGGATGCCCCCCCTCCCCTGAGAAGCCCGCCTTCTCCCTCGTGGACAGGAGTCAGCCAGTTGGTTGCTGTGGTTACAGCCAGTGCCTGGAATTCCTCCTTAGGGCCCTGGGAAGAGTATTGCTTAACGCAGGATGTGCTGGGTGTTTTGTTTCGGGCTTTTATTTATGGCTTGGTGTCTTTCTTGTTTCATGGCTGTGTTTTTGCTTTTGTTTCTGTAGGAGCGCCTCTTCCAAGCAGTGGAGGCCTGAGGGCTTGAGGGAGGCTGGGGAAAACCAGCAGGGAGCACTTGGC
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CCCATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCCGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCACGGGGCCTTCCATTTCCAGCCAGGCCTCATCTGGGGTAGGGCCAAGAGGAAAGTACAGAGTGCCCGTGGGGGAGAAGTCCCACCAGGATGCCCCCCCTCCCCTGAGAAGCCCGCCTTCTCCCTCGTGGACAGGAGTCAGCCAGTTGGTTGCTGTGGTTACAGCCAGTGCCTGGAATTCCTCCTTAGGGCCCTGGGAAGAGTATTGCTTAACGCAGGATGTGCTGGGTGTTTTGTTTCGGGCTTTTATTTATGGCTTGGTGTCTTTCTTGTTTCATGGCTGTGTTTTTGCTTTTGTTTCTGTAGGAGCGCCTCTTCCAAGCAGTGGAGGCCTGAGGGCTTGAGGGAGGCTGGGGAAAACCAGCAGGGAGCACTTGGC
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Task1_train_14075
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A mutation found in CHST3 (carbohydrate sulfotransferase 3) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations
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GCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCACGGGGCCTTCCATTTCCAGCCAGGCCTCATCTGGGGTAGGGCCAAGAGGAAAGTACAGAGTGCCCGTGGGGGAGAAGTCCCACCAGGATGCCCCCCCTCCCCTGAGAAGCCCGCCTTCTCCCTCGTGGACAGGAGTCAGCCAGTTGGTTGCTGTGGTTACAGCCAGTGCCTGGAATTCCTCCTTAGGGCCCTGGGAAGAGTATTGCTTAACGCAGGATGTGCTGGGTGTTTTGTTTCGGGCTTTTATTTATGGCTTGGTGTCTTTCTTGTTTCATGGCTGTGTTTTTGCTTTTGTTTCTGTAGGAGCGCCTCTTCCAAGCAGTGGAGGCCTGAGGGCTTGAGGGAGGCTGGGGAAAACCAGCAGGGAGCACTTGGCTCCTGGCAGAGGGAGAGGACAGGAGGAGGAGCCTTCCCCAGGAGGAA
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GCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCCACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCACGGGGCCTTCCATTTCCAGCCAGGCCTCATCTGGGGTAGGGCCAAGAGGAAAGTACAGAGTGCCCGTGGGGGAGAAGTCCCACCAGGATGCCCCCCCTCCCCTGAGAAGCCCGCCTTCTCCCTCGTGGACAGGAGTCAGCCAGTTGGTTGCTGTGGTTACAGCCAGTGCCTGGAATTCCTCCTTAGGGCCCTGGGAAGAGTATTGCTTAACGCAGGATGTGCTGGGTGTTTTGTTTCGGGCTTTTATTTATGGCTTGGTGTCTTTCTTGTTTCATGGCTGTGTTTTTGCTTTTGTTTCTGTAGGAGCGCCTCTTCCAAGCAGTGGAGGCCTGAGGGCTTGAGGGAGGCTGGGGAAAACCAGCAGGGAGCACTTGGCTCCTGGCAGAGGGAGAGGACAGGAGGAGGAGCCTTCCCCAGGAGGAA
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Task1_train_14076
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This genomic variant is located on Chromosome 10, within the CHST3 (carbohydrate sulfotransferase 3) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations
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AGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCACGGGGCCTTCCATTTCCAGCCAGGCCTCATCTGGGGTAGGGCCAAGAGGAAAGTACAGAGTGCCCGTGGGGGAGAAGTCCCACCAGGATGCCCCCCCTCCCCTGAGAAGCCCGCCTTCTCCCTCGTGGACAGGAGTCAGCCAGTTGGTTGCTGTGGTTACAGCCAGTGCCTGGAATTCCTCCTTAGGGCCCTGGGAAGAGTATTGCTTAACGCAGGATGTGCTGGGTGTTTTGTTTCGGGCTTTTATTTATGGCTTGGTGTCTTTCTTGTTTCATGGCTGTGTTTTTGCTTTTGTTTCTGTAGGAGCGCCTCTTCCAAGCAGTGGAGGCCTGAGGGCTTGAGGGAGGCTGGGGAAAACCAGCAGGGAGCACTTGGCTCCTGGCAGAGGGAGAGGACAGGAGGAGGAGCCTTCCCCAGGAGGAACGAGGAGAGGTGGCCA
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AGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCCGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCACGGGGCCTTCCATTTCCAGCCAGGCCTCATCTGGGGTAGGGCCAAGAGGAAAGTACAGAGTGCCCGTGGGGGAGAAGTCCCACCAGGATGCCCCCCCTCCCCTGAGAAGCCCGCCTTCTCCCTCGTGGACAGGAGTCAGCCAGTTGGTTGCTGTGGTTACAGCCAGTGCCTGGAATTCCTCCTTAGGGCCCTGGGAAGAGTATTGCTTAACGCAGGATGTGCTGGGTGTTTTGTTTCGGGCTTTTATTTATGGCTTGGTGTCTTTCTTGTTTCATGGCTGTGTTTTTGCTTTTGTTTCTGTAGGAGCGCCTCTTCCAAGCAGTGGAGGCCTGAGGGCTTGAGGGAGGCTGGGGAAAACCAGCAGGGAGCACTTGGCTCCTGGCAGAGGGAGAGGACAGGAGGAGGAGCCTTCCCCAGGAGGAACGAGGAGAGGTGGCCA
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Task1_train_14077
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Gene CHST3 (carbohydrate sulfotransferase 3) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations
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TAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCACGGGGCCTTCCATTTCCAGCCAGGCCTCATCTGGGGTAGGGCCAAGAGGAAAGTACAGAGTGCCCGTGGGGGAGAAGTCCCACCAGGATGCCCCCCCTCCCCTGAGAAGCCCGCCTTCTCCCTCGTGGACAGGAGTCAGCCAGTTGGTTGCTGTGGTTACAGCCAGTGCCTGGAATTCCTCCTTAGGGCCCTGGGAAGAGTATTGCTTAACGCAGGATGTGCTGGGTGTTTTGTTTCGGGCTTTTATTTATGGCTTGGTGTCTTTCTTGTTTCATGGCTGTGTTTTTGCTTTTGTTTCTGTAGGAGCGCCTCTTCCAAGCAGTGGAGGCCTGAGGGCTTGAGGGAGGCTGGGGAAAACCAGCAGGGAGCACTTGGCTCCTGGCAGAGGGAGAGGACAGGAGGAGGAGCCTTCCCCAGGAGGAACGAGGAGAGGTGGCCACGTGGCAGGCCACAGTGCCCTATGGGCTTTTCTGTTTGAACCCCATGTGGGATGAATCTCAAAGCCACCAGCGTTCTTGCCTAGTGTCCAGAGCAGCAGAGATTTGCAGCCCTCGCCCCTCCCTGAGAAGAAGCTGGATTTGA
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TAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGAGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCACGGGGCCTTCCATTTCCAGCCAGGCCTCATCTGGGGTAGGGCCAAGAGGAAAGTACAGAGTGCCCGTGGGGGAGAAGTCCCACCAGGATGCCCCCCCTCCCCTGAGAAGCCCGCCTTCTCCCTCGTGGACAGGAGTCAGCCAGTTGGTTGCTGTGGTTACAGCCAGTGCCTGGAATTCCTCCTTAGGGCCCTGGGAAGAGTATTGCTTAACGCAGGATGTGCTGGGTGTTTTGTTTCGGGCTTTTATTTATGGCTTGGTGTCTTTCTTGTTTCATGGCTGTGTTTTTGCTTTTGTTTCTGTAGGAGCGCCTCTTCCAAGCAGTGGAGGCCTGAGGGCTTGAGGGAGGCTGGGGAAAACCAGCAGGGAGCACTTGGCTCCTGGCAGAGGGAGAGGACAGGAGGAGGAGCCTTCCCCAGGAGGAACGAGGAGAGGTGGCCACGTGGCAGGCCACAGTGCCCTATGGGCTTTTCTGTTTGAACCCCATGTGGGATGAATCTCAAAGCCACCAGCGTTCTTGCCTAGTGTCCAGAGCAGCAGAGATTTGCAGCCCTCGCCCCTCCCTGAGAAGAAGCTGGATTTGA
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Task1_train_14078
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Assess the clinical impact of this variant on gene CHST3 (carbohydrate sulfotransferase 3), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations
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CCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCACGGGGCCTTCCATTTCCAGCCAGGCCTCATCTGGGGTAGGGCCAAGAGGAAAGTACAGAGTGCCCGTGGGGGAGAAGTCCCACCAGGATGCCCCCCCTCCCCTGAGAAGCCCGCCTTCTCCCTCGTGGACAGGAGTCAGCCAGTTGGTTGCTGTGGTTACAGCCAGTGCCTGGAATTCCTCCTTAGGGCCCTGGGAAGAGTATTGCTTAACGCAGGATGTGCTGGGTGTTTTGTTTCGGGCTTTTATTTATGGCTTGGTGTCTTTCTTGTTTCATGGCTGTGTTTTTGCTTTTGTTTCTGTAGGAGCGCCTCTTCCAAGCAGTGGAGGCCTGAGGGCTTGAGGGAGGCTGGGGAAAACCAGCAGGGAGCACTTGGCTCCTGGCAGAGGGAGAGGACAGGAGGAGGAGCCTTCCCCAGGAGGAACGAGGAGAGGTGGCCACGTGGCAGGCCACAGTGCCCTATGGGCTTTTCTGTTTGAACCCCATGTGGGATGAATCTCAAAGCCACCAGCGTTCTTGCCTAGTGTCCAGAGCAGCAGAGATTTGCAGCCCTCGCCCCTCCCTGAGAAGAAGCTGGATTTGAAAATCCCTCACAGGCCCTAACATGTTTCCTGGGTGGGCAGGGGCCTCATGA
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CCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTTTACCCCTTTGAATTGGCAGCATACAGCTATGTGCAGTGGGCCTGTTAGATGTAGAAAGATTTCTTAGCCTGTTCTCCTCCCAGGCACAAGCCCTGCAAGAAAGCATTAGCTAAGATGGGTGGGTCAGGGATTGGGCAATATAGTGGACACCGTCAATCCCCCCCCTTGGGTCACTGAGCAAGGACCGTTCTAGCTTGTGCCTATTGGGTTCTACTGCAAGCCCCTACAGCTCTGCACCTGAGAGCTTTCTCTCCACTGGCACACTGGCAAGCCGGAAGTACTAGGGAGTAACTGTCCCCCCCAGATCCCCATCAGACTAAGCCTCCGATGCCCACACCTGCTCCTAGCAGCACATCCATCATGCACCTCTTTCCTCCCCTGCCTCACTTCCCCATCCAGTACTTCCTGTGATCATGTCCCAAATAAACTTACTTAAACACAAATCCTTGCCTCAACGTCTGCTTTTGGGGAAACCCAACTGAGACAGGTTTTGGTGATCTGCTTGGAGGACTGCTTAGGGTTGCCCAGGAGACGGGGTCCCCAGTCAGCCACTGACCCTGATCTTCTTTGTCCTCACAGGGTCTCAGACAAGCTGAAGCAGATTCCCCAAGCTCTAGCAGATGCCAACAGCACCGACCCAGCCCTGATCTTAGCTGAGAACGCATCTCTCTTGTCCCTGAGCGAGCTCGATTCAGCCTTCTCCCAGCTTCAGAGCCGTCTCCGCAACCTCAGCTTGCAGCTGGGCGTGGAGCCAGCCATGGAGGCCGCAGGGGAGGAAGAGGAAGAGCAGAGAAAGGAGGAGGAGCCGCCCAGACCGGCCGTGGCGGGGCCCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGTACCGCGACGTGCTCAAGCAGCTCTTCCTGTGCGACCTGTACGTGCTGGAGCACTTCATCACGCCGCTGCCCGAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACCCCGTCTGTACGCCCTTCGTCAAGAAGGTCTTCGAGAAGTACCACTGCAAGAACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCACATGGCCCTCAAGGCGGTGCGCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAAGTATAAGACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGCGGCTGCGGGGCAACTGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCCGCTACATGCTGGTGCGCTACAAGGACGTGGCACGCGGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGGCATCCCCCTGACCCCGCAGGTGGAAGACTGGATCCAAAAGAACACGCAGGCGGCCCACGACGGCAGCGGCATCTACTCCACGCAGAAGAACTCCTCGGAGCAGTTCGAGAAGTGGCGCTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCCTGCCATGCGCCTCTTCGGCTACAAACTGGCGCGGGACGCCGCCGCCCTCACCAACCGCTCAGTCAGCCTGCTGGAGGAGAGGGGCACCTTCTGGGTCACGTAGGGGGGCCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCGTCTTTCTGCCGCAGCCCTCGCAGAGGGCGGGTGCACAGCGCCATGAGCGGGCAGCGCCTCCTGTAGCAGTAGGGCCCCCAGCCAGCGCTCCAGCCAAAGCGGCGGCCCCAGGGTTAATTGCGGAGAACAGGACAGTGCCCGGTCCCCTTGAGGGCCATCACACCCAGACCCAACGGGTTGCAGCCTCCTGAGCAGGCCTAGGCAGGCCCGGGCCTGTTGGCAAGCTTCGATCTCACACACACAGAAACATACATTCGTGCCTGGAGACCCTGCAGGCCAGAGTCCAAATATTTAACAATCAGAAGGGGCAAGGCTCTGACCAGTGACAGTCAGACCTCCTGCTTTATTTGGTGTTAACCGTTTCTTGTCTGGATGGTGAAGTCTGGAATCTGGGTGGGTCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGTGGCATTTGAGGCTCGTTTGAGGTGACAGTGGCTGTTTACCAACTAGTACAGAGCGATTCAGCGTTTTCATGAATGGGTTGGCTGTGCTGGTTACTGATGAATATGGGCCCCTTATAGAGCTGCAAAACACACACATGCGTATAGACATACATACATGTACACCATACATAGACAAGCATCATAAAGGCACAAGTGCACACACATCTATGCAGACAAGCTTCCTCGCTGCTTATGCCCACAGGGTTTTTCTGTATGACACACCTCAGAGGAGCCTGTGCTTAACATTTGTAGGATTATTTCGAGGGCAGGGCAGGGGAAAGAAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCTGCCCGCCTTAGATTCTCATGGCTACCTCCTCTGACCCATCCACATCCTTGCGGCTGGCAGGCAGGATGTTTTGAAATGGTGCAGCCAAAGGCCCCGTCTAGCTTGGCTGGCTCCCGAACATGTCCATATTTGAAGGCTGCCTCAGGCCTGGCAGGCAGAAGCAGCTGTGGTCCCTGGAGGCAAAAGGCAGCTCACGGGGCCTTCCATTTCCAGCCAGGCCTCATCTGGGGTAGGGCCAAGAGGAAAGTACAGAGTGCCCGTGGGGGAGAAGTCCCACCAGGATGCCCCCCCTCCCCTGAGAAGCCCGCCTTCTCCCTCGTGGACAGGAGTCAGCCAGTTGGTTGCTGTGGTTACAGCCAGTGCCTGGAATTCCTCCTTAGGGCCCTGGGAAGAGTATTGCTTAACGCAGGATGTGCTGGGTGTTTTGTTTCGGGCTTTTATTTATGGCTTGGTGTCTTTCTTGTTTCATGGCTGTGTTTTTGCTTTTGTTTCTGTAGGAGCGCCTCTTCCAAGCAGTGGAGGCCTGAGGGCTTGAGGGAGGCTGGGGAAAACCAGCAGGGAGCACTTGGCTCCTGGCAGAGGGAGAGGACAGGAGGAGGAGCCTTCCCCAGGAGGAACGAGGAGAGGTGGCCACGTGGCAGGCCACAGTGCCCTATGGGCTTTTCTGTTTGAACCCCATGTGGGATGAATCTCAAAGCCACCAGCGTTCTTGCCTAGTGTCCAGAGCAGCAGAGATTTGCAGCCCTCGCCCCTCCCTGAGAAGAAGCTGGATTTGAAAATCCCTCACAGGCCCTAACATGTTTCCTGGGTGGGCAGGGGCCTCATGA
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Task1_train_14079
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Here’s a variant in ADK (adenosine kinase) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Adenosine kinase deficiency
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AGTTCTTTCTTTTATTTGGATTGGAACCATACTGTGATCTCTTATGGAAAACAGACTTCCTCCAAGTCTGTTAAATATAATTTAAAATTATATCGTTTCTTGTTGATTTGTTTGTTTTTGTTTTGCTTTATTTCATGTTATAGGCATCTGAAATGAATCCTTATATATATAACATACAAGTATATGTATGAGAAGACATGAATATAAGAAGTATAGGAAACATAAGACATGAATAAAAGTTTTAGCTAGACATTTTTAGATGAAAAGATGTGCATTTAAATTTGTAAAAGTTACAAATCGTTCTATAAAAAGTTAGCATATATTTAAATTTTTTGGATACATAATAAGAGAATTATATCACTTCTGATATCCATTGTGAAGACCCTACCACAGTCATTTTTTTGTGAAGGGTAGATAGGGCTCTTGCTTGTACTCTTCCAGGATGTGCCACGGGCTCCCTAATAACATTCAGGGGAGTGCATGTGCAGGTTTGTTACATGGGTATATCATATGATACTGAAGTTTGGTTTTGTAATGATCCCCATCGTCTAAGTAGTGAACATAGTAACCAATAGGTAGTTTTTGAGCCCTTGCTTTCCTGTCTCCCTCCCTGATTTTGGAATCTCCAGTGTCTTTTGTCCCGACATCTTTGTGTCTCTGCGTACCCAGTGTTTAGCTTCCACTTATAAGTGAAAACATGTGATATTTGGCTTTCTGTTTCTATGTTAATTCACTTAGGATAATTCAGCTGCATCCATATTGCTGTAAAGGACATGATTTCGTTCTTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTATTGAATTTTCTTTATCCATTCTACCATTGATGGGCACCTAAGTTGATTCCATGTCTTTGCTATTGTGAAGAGTGCTGTAATAAACATATCCCTTTTTGGTAGAATGATTCATTTTTTTTCATTTTTTTTATTTTTTAGGCAGAGTCTCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCACGATCTCGACTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCATCAGCCTCCTGAGTAGCTGGGACTACAGGTGCTCGCCACTACACCTGGCTAATTTTTGTATTTTTTATACAGATGGGGTTTCACCTTGTTGGTCAGGATGGTCTTGATCTGCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCGTGCCCAGCCTAGAATGATTCATTTTTCTTTGGGTATATACCCATAATGAGATTGCTGGGTCGGATGGTAATTATATTTTAAGTTTTTTGAGAGATCTTTAAACTTCTTTTCACAGGGGCTAACCTAATTTGCATTCCCATCAGCAGTTTATAAGTATTACCTTTTCTCTGCAACCTTGACACCATCTGTTTTTTTTTTTTTTTTTTTTTGACTCTTTAGTAATAGTTATTCTGGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTAAGGCAGGTGGATGTGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTTTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCACCATTGCACTCCGGCCTGGGCGACAAGAGCGAAACTCCGTGTCCAAAAAAAAAAAAAAAAAATAGGTATTCTCATTGGTGTGAGATGGTGTCTCATTGTAGTTTTGATTTGCATCTTTCTCTGATAATCATCTTTTTTTCTAAATGTCTTTATGCTACCTCTAAAATGTTCTACGTATAATAGGCAAATCAAATGTTTAATAAACTGGTGTGTTAGGTTTATTTTCAGGTTGAAATGAAGATAGTTATTTTTATTTTGTGTACCTTTTACATATCAACTTACTTTTAGAAGTATTTCTAACTTGTGTTTTGTGTTTTTTTAGAGAAAATATTCTCTTTGGAATGGGAAATCCTCTGCTTGACATCTCTGCTGTAGTGGACAAAGATTTCCTTGATAAGTAAGTATTAAACTCTTCATATGCACTATGTGGAACTTACATTTGAAGAAGAATGGATGAAAACTTTAGAAGTGAATTTACCACCGAATGTCTTCAATTAAAGGAAAACTCAGGAAATTTAAGTTTGGTGATAGCAAGTGTGCTATCATTAACTATTGAATAACTGAGTACAGTTTTCCTTGGGAAAACTTATATACATTGCTATTTTTACTTAAAACTTTTTTGCTTATTATTTGGAAGGAGAAAAGTTTATATAATTTACCTAATTATTTAATTCCCCAACTTTTAAACTACTGTCAGTGAGCTACGTCTATAATGGTATCATAATCTACAGACATTCTACCCCGAATGTGCCCAGTCTGGTTTCCTCTCAGAAGCTATAATGGGAGAAGAAAGATGATTAGAGAAGACAAGAGAACGTGCAGGATATAATTCAGAGGATATGAAGCTCTGCTGTTTCCGCTTTATTAGTAACTTCCAATGTTTCAACTTAGCTGAGAAATCAGTTTGTTTATTTACCTAAGTATTTGAGGCCATTTCGTACAATAGTCCCCACTTGTGTCCTTGTTTTCAGTTTCTGAGGTCTCAGTTACCCATAGGACAGTGTAATAAGACATTTTGAGAGAGAGACATGCACCACGTCCACATAACTTTTATTACAGTATATTTTAATAGTTGTTCTATTTTTAGTTAGTTGTTGTTAATCTCTTATTGTGCCTAATTTATAAATGAAACTTTATCATAGTATGATGTGTAGGTATGTATGTGTAGGAAAAACAGTGTGTGTGTGTTTGTGTGTGTGTGTATATGTATGTATGTATGTATGTATGTATGTATGTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATATATGGTTCAGTACTATCCATGGTTTCAGATACCCACTGGTCATCTTACAATGCATCTACCTCGGATAACGGGGGCACTACTATATGGCAAATTTAAGTAGTAAAAAAGATTAATGATGAGAAAGCAAGATCCCCCCTCTCCTCACACACCCTGATTTCTGTACCCAAGAGTAATTACTTTTTAAAAAATTGAGGCAAAATTTATATCGCATAAAATTGATCGTTTTAACCATTATAAAGTATACAATTCAGTGACTGCCAGTATATTCACAAAGTTGTACAACCATCACCACTATCTAATTCAGGACATTTTCATCACCCCAAAATGAAATCCCATACCCAGTAAGTAGTCATTCGCTATTCCCTCCTCTAACCCAGTCTCCTGGGAACTACTAGTATACTTAGTTTTTCTATGAATTTGTCTATTCTGAGCATTTTATAGAAATGGAATCATATAATAATATATGATCTTTTGTGTTTATATATATGACCTTTTGTGTTTGGGCTTATTTTACTTATGTAATGCTTTCAAGGTTCATCCATGTTGTAGCATGTATCAGTCCTTCATTCCTTTTAATAGTGGACTATTCCATTGTGTGGATAGACCACATTTTGTTTATCCATTCATTGGTTGATGGACACTTATGTTGTTTTTATTTTTTGTCTATTAGGAACAATGCTTCTTATGAATATTCATGTATAAGCTTTTGTGTAGGAATGTGTTTTCATTTCTCTTGGGTATACACATAGGAGTGGAACTGCTGGGTCACATGGTAATTCTGTGTTTAACTTCTAGAGAAACCACCAAACTGTTTTCCAAAGCAGCTGCACTGTTTTGCATTCCTACCGGCAGTGCATAAGTGTTCCAGTTTCTCTACGTCTTTGCCAAAGCTTATTTTTTATTTTTTAAATTATAGCCATATGAGTGGGTGTGAAATGATGTCTCATTGTGATTTTGATTTGCATTTTTCTATTGAAAACTTTTGATGTTAGCATCTTTTCATATGCTTATTGGATATTTGTATATCTTTGGGAAAATGTTGAAGCTCTTTGCCCATTTTTTAATTGGGTCGTTGTCTTTTTGTTAAGTTGTAAAAGTTCTT
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AGTTCTTTCTTTTATTTGGATTGGAACCATACTGTGATCTCTTATGGAAAACAGACTTCCTCCAAGTCTGTTAAATATAATTTAAAATTATATCGTTTCTTGTTGATTTGTTTGTTTTTGTTTTGCTTTATTTCATGTTATAGGCATCTGAAATGAATCCTTATATATATAACATACAAGTATATGTATGAGAAGACATGAATATAAGAAGTATAGGAAACATAAGACATGAATAAAAGTTTTAGCTAGACATTTTTAGATGAAAAGATGTGCATTTAAATTTGTAAAAGTTACAAATCGTTCTATAAAAAGTTAGCATATATTTAAATTTTTTGGATACATAATAAGAGAATTATATCACTTCTGATATCCATTGTGAAGACCCTACCACAGTCATTTTTTTGTGAAGGGTAGATAGGGCTCTTGCTTGTACTCTTCCAGGATGTGCCACGGGCTCCCTAATAACATTCAGGGGAGTGCATGTGCAGGTTTGTTACATGGGTATATCATATGATACTGAAGTTTGGTTTTGTAATGATCCCCATCGTCTAAGTAGTGAACATAGTAACCAATAGGTAGTTTTTGAGCCCTTGCTTTCCTGTCTCCCTCCCTGATTTTGGAATCTCCAGTGTCTTTTGTCCCGACATCTTTGTGTCTCTGCGTACCCAGTGTTTAGCTTCCACTTATAAGTGAAAACATGTGATATTTGGCTTTCTGTTTCTATGTTAATTCACTTAGGATAATTCAGCTGCATCCATATTGCTGTAAAGGACATGATTTCGTTCTTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTATTGAATTTTCTTTATCCATTCTACCATTGATGGGCACCTAAGTTGATTCCATGTCTTTGCTATTGTGAAGAGTGCTGTAATAAACATATCCCTTTTTGGTAGAATGATTCATTTTTTTTCATTTTTTTTATTTTTTAGGCAGAGTCTCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCACGATCTCGACTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCATCAGCCTCCTGAGTAGCTGGGACTACAGGTGCTCGCCACTACACCTGGCTAATTTTTGTATTTTTTATACAGATGGGGTTTCACCTTGTTGGTCAGGATGGTCTTGATCTGCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCGTGCCCAGCCTAGAATGATTCATTTTTCTTTGGGTATATACCCATAATGAGATTGCTGGGTCGGATGGTAATTATATTTTAAGTTTTTTGAGAGATCTTTAAACTTCTTTTCACAGGGGCTAACCTAATTTGCATTCCCATCAGCAGTTTATAAGTATTACCTTTTCTCTGCAACCTTGACACCATCTGTTTTTTTTTTTTTTTTTTTTTGACTCTTTAGTAATAGTTATTCTGGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTAAGGCAGGTGGATGTGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTTTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCACCATTGCACTCCGGCCTGGGCGACAAGAGCGAAACTCCGTGTCCAAAAAAAAAAAAAAAAAATAGGTATTCTCATTGGTGTGAGATGGTGTCTCATTGTAGTTTTGATTTGCATCTTTCTCTGATAATCATCTTTTTTTCTAAATGTCTTTATGCTACCTCTAAAATGTTCTACGTATAATAGGCAAATCAAATGTTTAATAAACTGGTGTGTTAGGTTTATTTTCAGGTTGAAATGAAGATAGTTATTTTTATTTTGTGTACCTTTTACATATCAACTTACTTTTAGAAGTATTTCTAACTTGTGTTTTGTGTTTTTTTAGAGAAAATATTCTCTTTGGAATGGAAAATCCTCTGCTTGACATCTCTGCTGTAGTGGACAAAGATTTCCTTGATAAGTAAGTATTAAACTCTTCATATGCACTATGTGGAACTTACATTTGAAGAAGAATGGATGAAAACTTTAGAAGTGAATTTACCACCGAATGTCTTCAATTAAAGGAAAACTCAGGAAATTTAAGTTTGGTGATAGCAAGTGTGCTATCATTAACTATTGAATAACTGAGTACAGTTTTCCTTGGGAAAACTTATATACATTGCTATTTTTACTTAAAACTTTTTTGCTTATTATTTGGAAGGAGAAAAGTTTATATAATTTACCTAATTATTTAATTCCCCAACTTTTAAACTACTGTCAGTGAGCTACGTCTATAATGGTATCATAATCTACAGACATTCTACCCCGAATGTGCCCAGTCTGGTTTCCTCTCAGAAGCTATAATGGGAGAAGAAAGATGATTAGAGAAGACAAGAGAACGTGCAGGATATAATTCAGAGGATATGAAGCTCTGCTGTTTCCGCTTTATTAGTAACTTCCAATGTTTCAACTTAGCTGAGAAATCAGTTTGTTTATTTACCTAAGTATTTGAGGCCATTTCGTACAATAGTCCCCACTTGTGTCCTTGTTTTCAGTTTCTGAGGTCTCAGTTACCCATAGGACAGTGTAATAAGACATTTTGAGAGAGAGACATGCACCACGTCCACATAACTTTTATTACAGTATATTTTAATAGTTGTTCTATTTTTAGTTAGTTGTTGTTAATCTCTTATTGTGCCTAATTTATAAATGAAACTTTATCATAGTATGATGTGTAGGTATGTATGTGTAGGAAAAACAGTGTGTGTGTGTTTGTGTGTGTGTGTATATGTATGTATGTATGTATGTATGTATGTATGTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATATATGGTTCAGTACTATCCATGGTTTCAGATACCCACTGGTCATCTTACAATGCATCTACCTCGGATAACGGGGGCACTACTATATGGCAAATTTAAGTAGTAAAAAAGATTAATGATGAGAAAGCAAGATCCCCCCTCTCCTCACACACCCTGATTTCTGTACCCAAGAGTAATTACTTTTTAAAAAATTGAGGCAAAATTTATATCGCATAAAATTGATCGTTTTAACCATTATAAAGTATACAATTCAGTGACTGCCAGTATATTCACAAAGTTGTACAACCATCACCACTATCTAATTCAGGACATTTTCATCACCCCAAAATGAAATCCCATACCCAGTAAGTAGTCATTCGCTATTCCCTCCTCTAACCCAGTCTCCTGGGAACTACTAGTATACTTAGTTTTTCTATGAATTTGTCTATTCTGAGCATTTTATAGAAATGGAATCATATAATAATATATGATCTTTTGTGTTTATATATATGACCTTTTGTGTTTGGGCTTATTTTACTTATGTAATGCTTTCAAGGTTCATCCATGTTGTAGCATGTATCAGTCCTTCATTCCTTTTAATAGTGGACTATTCCATTGTGTGGATAGACCACATTTTGTTTATCCATTCATTGGTTGATGGACACTTATGTTGTTTTTATTTTTTGTCTATTAGGAACAATGCTTCTTATGAATATTCATGTATAAGCTTTTGTGTAGGAATGTGTTTTCATTTCTCTTGGGTATACACATAGGAGTGGAACTGCTGGGTCACATGGTAATTCTGTGTTTAACTTCTAGAGAAACCACCAAACTGTTTTCCAAAGCAGCTGCACTGTTTTGCATTCCTACCGGCAGTGCATAAGTGTTCCAGTTTCTCTACGTCTTTGCCAAAGCTTATTTTTTATTTTTTAAATTATAGCCATATGAGTGGGTGTGAAATGATGTCTCATTGTGATTTTGATTTGCATTTTTCTATTGAAAACTTTTGATGTTAGCATCTTTTCATATGCTTATTGGATATTTGTATATCTTTGGGAAAATGTTGAAGCTCTTTGCCCATTTTTTAATTGGGTCGTTGTCTTTTTGTTAAGTTGTAAAAGTTCTT
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Task1_train_14080
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A variant on Chromosome 10 in gene ADK, LOC102723439 (adenosine kinase| uncharacterized LOC102723439) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Adenosine kinase deficiency
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CTTATGACTTTTACTCATTCCTTTCTTTCTCTACTTCCCCATAGCACCTTCTTAAAATTTCCCTTGCTTAGTTTCTCCACCATCACTTCTCCTCTCCTCATTTGGCCTCCTCTTGTTTTCTCCTTTTCCTTTTTTATTTCCTCTAATTTTTGTTCTCCATTTTTTCCTTCGTCGTCTTTTGTTCTGTGTTCTCTGCCTTGGGAATTACACCACCTCTTTGACCTCACCTCTTTCATGACCTTTCCTCTAAGTCCAACTTTCTGGTAGATACTTAGAGATCCCTTAGAACCTCAACTGTAGTATGACCACAACTAAACACTCTTTACCATCTAAGCCAGATCTTATTCTGGAATTTTCCACTTTTATTAATGGTAGAACCAGATTCAAAAATCTCAATCATCTTTTGACTCTTTTCTTCTTTGCCTTCCACATCTTAAACAATTGCCAAGTCCTGTATGTAGTACTCCTAATATGGTTTTCTTTTACACAGCCAAATGTAGACATTTATTAACTGTTGCTGAATTGTTGCTGCCCAGGTTAACTTTGCTTTAAATTTTCCCATAAGCTTGTTATTCCTTCCTTTCACGGAAATATTCATTACCCATGATCCACCCCTACCCCTCTTGCACATTGCCCACCAAATAGATTCCTACCCTGCCATCCAAGGCCCTTTGTATTCTTAACTTCGCCGACCTTTTCAAGTCTCTATTATTGCCCTTTGTGTATTCCTTTACTTGTTTGTGCACCATCCAAACTAATTTCCTGTATATACATGTATGTCTTTGCTTATGCTTTCCTCTAGAAAGCATGAATATGTTTTAATAAGACTTTCATTAATATTAAAGCTGTACATAAATAGCATTTTAAATGCAGCTTTCCTGACATGAAATTTTAAAGAAATTTAAAGAAAATTTTAAAGAAAAATTAAATATTTTTCTTTTGCATTACTGCATTCTTTTCTCATTATTTGAAAATTCTAATTCAGAATCTTCCTCAAAAATCAATTTAGATATTTCTTAAGGTAACAAGTTATGATTGATTGATTGATTGATATAGAGACAAGGTCTCCGTGTATTTCCCAGGCTGGAGTGCAGTGGTGTCATCTCGGCTCACTTCAACCTCCACCACCTGGGCTATAGCAATCCTCCCGTCTCAGTCTCATGAGTAGCTGGGACCACAGGCACACACCAACACACCCAGCTAATTTTTGAAATTTTTGTAGAGACAGAGTTCCGCCATGTTGCCCAAGCTGGTTTGGAACTCCTAGACTCAAGTGATTGGCCCACCTTGGCCTCCCAAAGTGCTGGAATTCCAGGTGTGATTCATTGTACCCAGCCAGAAGTTATGATCTTAATTAACAGATTATTTTAAAGTCACTTATAAGAATACAAACTCAGCCAGGCTCAGTGGTGTGCACCTGTAATCCCAGCTACTTGGAGGGCTGAGGTAGGAGGATTGCTTTATCCCAGGAGTTCAGGACCAGCCTGGGCAATATAGTGAAACCTTATCTCAAAAAATATATATTCCAAACTGTTTGTAAGAAGCTAAAAGGATTCAGTTTGCCTTCATAGTACAATTTCCCTAATTCGAATGTAATTATTGTCTTGAATGAGACCTTTCAAACATTTTTTCTTTCATGAATTTCCAGAATTCTTTAGTATTGAGCATATAAACCTAGTATGAAATAAGTAATGCTTTATTCTCTGAAGTAATGGCATGTATCAAGCATATGGTACTCATATGATCAAATATCCTTCCAGTCAAATGTTGCTATTTTCTGCCTTGCATCTTATAATTGTATTTTATATACTTTTGTATTTTGTATAGGTTTCTTTTATTCTCACTGAGAGTGACTGTGGAGATGGTATTTCTAATTTTCCCTCCTTTTTTCTTCATCCAGGGCTTTTTTCTTACAGTTTCCCCAGAGTCAGTATTAAAGGTGGCTCACCATGCTTCTGAAAACAACAGGATTTTCACTTTGAATCTATCTGCACCGTTTATTAGCCAGTTCTACAAGGAATCATTGATGAAAGTTATGCCTTATGTTGATATACTTTTTGGAAATGAGACAGTGAGTTACCTTTCCTTTTTCAAAAGAACCTGGGGGTTTTTTGTTTGTTTATTTCTGATGTGTGTATATATGTTTAGAAATATATAAATTAAATCCTAAATTTTTGTGTAAATGTCCTTGAGAATTGTGCAACAAAATTGCCTCAATGTCAACTGCTCTCAGTATTTTCAATATTTCCTTCAGTATATACTAACTTCTTTCTTAGTGAAGCATTTATTTATTTATTTTTATATTTTTATTTTTTTGAGGTGGAGTTTCCCTCTTTTCATCCAGGCTGGAGTATAATGGCATGATCTTGGCTCACTACAACCTCTCCTTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGGTTATAGGCGCATGCCACCATGCCCAGCTAAATTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCACGAACTCCTGACCTCAGGTGATCTGATCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTATGAGCCACTGTGCCCGGCCCAACATTTATTTTTTTAAGGTGTTTGACGTTTGATTTACTTATAGTAAGAGTCATCCTTTTTACTGTAATTTCTGTGAGTTTTTACAGATGGATACCTGTCCTGTTACTATGACCACAATCAGGATAAAAAAGCACATTCATCACTTTTTTAAGTCTCTTCAGAGTCTAAGTCCATTTGATATTTGTTTAATAAATTATGAGTAAATTTTGATATATTACATTTATATTTCTTTATTAATAATATTTTTAAAATATTGTCTGTTATAGTTGAAGGTGATAAAATGGAATTTCATCTCAACAAGTACAGTTTTTTCTTTCTACCAAGAATGTATTTTCTTCCATTCTAAATTATGGAAATGCTTATTTACTTAAATGCTTATTTACTTTGATTGCTTGTTTACTGTTTATACCTCTTATTTACTGTTTATACCTCTTTAAAAATCCATGAAAGAGGAAAAAATCCTTCAGTGTGTCTTCCTATGACTTGGCCATGTCACTTGATGGTTTAATGTATACAATGAAGGTATTGTATTAATCATCCCAGAAGTTCATTCTGATTCTAATTCCATAGTTCTAACATAGTTTGAATATATTCATCAATTTTATATCTAATAACTGCCATCTGCCTAGAATAACATAAAAATTGACCTGGAAGTTTACGAGATCACCTGGGTAAAGATTAAAGGATGATCCATAGAAATAATATCACAGTGTATCTGCAAAGGTGATGGTTACATTGGTTATAAATGGTGACATTGGAAGGAAATGCTATATTCTTGATAATTCACAAATTGAGATACTGGCAAGAAATAGTGGTAATAGCCAAGTGCCATATAACTGCTAGAAGCCTAATTTGACTAAGATCTACCATTTAGTTTTTCCTTATTAACAGTTTTATTTTGTAAAGGGTAAAAGAAGTAAATGGGAAAAGTGCTATTCAAGCCTTTTGAATAACATTAAAGCATTGGTCTCAGTAGTCTTGAGAATCATTGGGAGAAGTTAACATTTGGTCTCAGAGTTCTAAATAGTCAAGAAAGATCAGACTGGCAGCACTTAAATAAGTTCTCTAGAGTTTAAGAGACAAATCTTAAAACTTTTAAAAAAGATAAATATGATTCCAAAGAGGCCGGGCACGGTGGCTCACGCCTGTGATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAAGCCCGTCTCTACTTAAAATACAAAAAATGAGCCAGGCGTGGTGGCGAGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGACAGAGCGAGACTCCGTCTCAAAAAACAAACAAACAAAAAAAAAAAAACATAAATATGATTCCAAAGAATGAAACTTTGGAAGTAAAGAAAGCTTAGGGAGATTGAATGCCATA
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CTTATGACTTTTACTCATTCCTTTCTTTCTCTACTTCCCCATAGCACCTTCTTAAAATTTCCCTTGCTTAGTTTCTCCACCATCACTTCTCCTCTCCTCATTTGGCCTCCTCTTGTTTTCTCCTTTTCCTTTTTTATTTCCTCTAATTTTTGTTCTCCATTTTTTCCTTCGTCGTCTTTTGTTCTGTGTTCTCTGCCTTGGGAATTACACCACCTCTTTGACCTCACCTCTTTCATGACCTTTCCTCTAAGTCCAACTTTCTGGTAGATACTTAGAGATCCCTTAGAACCTCAACTGTAGTATGACCACAACTAAACACTCTTTACCATCTAAGCCAGATCTTATTCTGGAATTTTCCACTTTTATTAATGGTAGAACCAGATTCAAAAATCTCAATCATCTTTTGACTCTTTTCTTCTTTGCCTTCCACATCTTAAACAATTGCCAAGTCCTGTATGTAGTACTCCTAATATGGTTTTCTTTTACACAGCCAAATGTAGACATTTATTAACTGTTGCTGAATTGTTGCTGCCCAGGTTAACTTTGCTTTAAATTTTCCCATAAGCTTGTTATTCCTTCCTTTCACGGAAATATTCATTACCCATGATCCACCCCTACCCCTCTTGCACATTGCCCACCAAATAGATTCCTACCCTGCCATCCAAGGCCCTTTGTATTCTTAACTTCGCCGACCTTTTCAAGTCTCTATTATTGCCCTTTGTGTATTCCTTTACTTGTTTGTGCACCATCCAAACTAATTTCCTGTATATACATGTATGTCTTTGCTTATGCTTTCCTCTAGAAAGCATGAATATGTTTTAATAAGACTTTCATTAATATTAAAGCTGTACATAAATAGCATTTTAAATGCAGCTTTCCTGACATGAAATTTTAAAGAAATTTAAAGAAAATTTTAAAGAAAAATTAAATATTTTTCTTTTGCATTACTGCATTCTTTTCTCATTATTTGAAAATTCTAATTCAGAATCTTCCTCAAAAATCAATTTAGATATTTCTTAAGGTAACAAGTTATGATTGATTGATTGATTGATATAGAGACAAGGTCTCCGTGTATTTCCCAGGCTGGAGTGCAGTGGTGTCATCTCGGCTCACTTCAACCTCCACCACCTGGGCTATAGCAATCCTCCCGTCTCAGTCTCATGAGTAGCTGGGACCACAGGCACACACCAACACACCCAGCTAATTTTTGAAATTTTTGTAGAGACAGAGTTCCGCCATGTTGCCCAAGCTGGTTTGGAACTCCTAGACTCAAGTGATTGGCCCACCTTGGCCTCCCAAAGTGCTGGAATTCCAGGTGTGATTCATTGTACCCAGCCAGAAGTTATGATCTTAATTAACAGATTATTTTAAAGTCACTTATAAGAATACAAACTCAGCCAGGCTCAGTGGTGTGCACCTGTAATCCCAGCTACTTGGAGGGCTGAGGTAGGAGGATTGCTTTATCCCAGGAGTTCAGGACCAGCCTGGGCAATATAGTGAAACCTTATCTCAAAAAATATATATTCCAAACTGTTTGTAAGAAGCTAAAAGGATTCAGTTTGCCTTCATAGTACAATTTCCCTAATTCGAATGTAATTATTGTCTTGAATGAGACCTTTCAAACATTTTTTCTTTCATGAATTTCCAGAATTCTTTAGTATTGAGCATATAAACCTAGTATGAAATAAGTAATGCTTTATTCTCTGAAGTAATGGCATGTATCAAGCATATGGTACTCATATGATCAAATATCCTTCCAGTCAAATGTTGCTATTTTCTGCCTTGCATCTTATAATTGTATTTTATATACTTTTGTATTTTGTATAGGTTTCTTTTATTCTCACTGAGAGTGACTGTGGAGATGGTATTTCTAATTTTCCCTCCTTTTTTCTTCATCCAGGGCTTTTTTCTTACAGTTTCCCCAGAGTCAGTATTAAAGGTGGCTCACCATGCTTCTGAAAACAACAGGATTTTCACTTTGAATCTATCTGCACCGTTTATTAGCCAGTTCTACAAGGAATCATTGATGAAAGTTATGCCTTATGTTGCTATACTTTTTGGAAATGAGACAGTGAGTTACCTTTCCTTTTTCAAAAGAACCTGGGGGTTTTTTGTTTGTTTATTTCTGATGTGTGTATATATGTTTAGAAATATATAAATTAAATCCTAAATTTTTGTGTAAATGTCCTTGAGAATTGTGCAACAAAATTGCCTCAATGTCAACTGCTCTCAGTATTTTCAATATTTCCTTCAGTATATACTAACTTCTTTCTTAGTGAAGCATTTATTTATTTATTTTTATATTTTTATTTTTTTGAGGTGGAGTTTCCCTCTTTTCATCCAGGCTGGAGTATAATGGCATGATCTTGGCTCACTACAACCTCTCCTTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGGTTATAGGCGCATGCCACCATGCCCAGCTAAATTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCACGAACTCCTGACCTCAGGTGATCTGATCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTATGAGCCACTGTGCCCGGCCCAACATTTATTTTTTTAAGGTGTTTGACGTTTGATTTACTTATAGTAAGAGTCATCCTTTTTACTGTAATTTCTGTGAGTTTTTACAGATGGATACCTGTCCTGTTACTATGACCACAATCAGGATAAAAAAGCACATTCATCACTTTTTTAAGTCTCTTCAGAGTCTAAGTCCATTTGATATTTGTTTAATAAATTATGAGTAAATTTTGATATATTACATTTATATTTCTTTATTAATAATATTTTTAAAATATTGTCTGTTATAGTTGAAGGTGATAAAATGGAATTTCATCTCAACAAGTACAGTTTTTTCTTTCTACCAAGAATGTATTTTCTTCCATTCTAAATTATGGAAATGCTTATTTACTTAAATGCTTATTTACTTTGATTGCTTGTTTACTGTTTATACCTCTTATTTACTGTTTATACCTCTTTAAAAATCCATGAAAGAGGAAAAAATCCTTCAGTGTGTCTTCCTATGACTTGGCCATGTCACTTGATGGTTTAATGTATACAATGAAGGTATTGTATTAATCATCCCAGAAGTTCATTCTGATTCTAATTCCATAGTTCTAACATAGTTTGAATATATTCATCAATTTTATATCTAATAACTGCCATCTGCCTAGAATAACATAAAAATTGACCTGGAAGTTTACGAGATCACCTGGGTAAAGATTAAAGGATGATCCATAGAAATAATATCACAGTGTATCTGCAAAGGTGATGGTTACATTGGTTATAAATGGTGACATTGGAAGGAAATGCTATATTCTTGATAATTCACAAATTGAGATACTGGCAAGAAATAGTGGTAATAGCCAAGTGCCATATAACTGCTAGAAGCCTAATTTGACTAAGATCTACCATTTAGTTTTTCCTTATTAACAGTTTTATTTTGTAAAGGGTAAAAGAAGTAAATGGGAAAAGTGCTATTCAAGCCTTTTGAATAACATTAAAGCATTGGTCTCAGTAGTCTTGAGAATCATTGGGAGAAGTTAACATTTGGTCTCAGAGTTCTAAATAGTCAAGAAAGATCAGACTGGCAGCACTTAAATAAGTTCTCTAGAGTTTAAGAGACAAATCTTAAAACTTTTAAAAAAGATAAATATGATTCCAAAGAGGCCGGGCACGGTGGCTCACGCCTGTGATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAAGCCCGTCTCTACTTAAAATACAAAAAATGAGCCAGGCGTGGTGGCGAGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGACAGAGCGAGACTCCGTCTCAAAAAACAAACAAACAAAAAAAAAAAAACATAAATATGATTCCAAAGAATGAAACTTTGGAAGTAAAGAAAGCTTAGGGAGATTGAATGCCATA
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Task1_train_14081
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A mutation in ADK (adenosine kinase), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Adenosine kinase deficiency
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ATTTCTTTATAAGTATTTATGGTACAGACCTTTTCCTAAATCAGACTGCAGACCTTTCCTGAGTATTTCTAATAAAGTCTGCTTACATTTTTTTTTTGGCCTGCATAGTAGTTTGTGCTATATATACTCTCTAGAAAATGTAATTCTGGATATTTGTGCCATAACTTTCAATTAATCAAAATCTTGTCAACTGCCATATAGGCCCTCATGTTACAAAATGTGGAAAGTTCAGTTACTTAAAGAGTTTGGCTGGGCATTGTGGCTCACACCTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCAGATCACTTGAGGTCAGGAGTTCAAGACGAGCCTGGCCAACATGGCAAAACCTATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGCACATGACTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTACTTGAACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAATAGAATGAGACTCCGTCTCAAAGAAAAAAAGTTTAAGCCAGATGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGACCAAGGCAGGAGGATTGCTCGAGCACAGGAGTTTGAAACCAGCTTGGGCAACAAAGTGAGACCCTGTCTCTACCCACCCGCCCCCCAAAAAAAAGCAAAAAATTGACCAGCTGTGGTGCTGCGTGTCTGTGGTCCCAACTACACAGGAGGCAGAGAGAATCCCTTGAGCCCAGGAGGTCAAGGTTGGAGTGTGTTATGATTATACAACTGCACTCCAGCCTGGATGACAGAGCAAGACCTAAAAAAAAAAAAAAGATTTTAAAAAAGATTGACTAAGTGAATGAGTCCTCTTCTTGAATATCAGTCATTCCAGGAGAGTATTTTCATTAACATATTTATGTCTCTTGTTGAAAGTATCCATTAAGAGCAGGTAGCAAAAGCTAGACAGAATATGCTTTTGAAGATTCTCTATGCTCTTTATTAATACCTTTCTTAAGTTTCTCAAGATCTCCTTTTGCCTCCCTCTTGATCTTAAACGAGACTGAAGTTTAAGAGTCTTTAGCCACTCTGTCCCCATAGGGATGCAAATTTATGATTTCAGAAGTTCCAGCCCCCAATAAGAAGCACTGTCCAATCGTTTGCAGATGTATCTTGTAAGCCAGATTTCATGACAGATAAGTCCATTCCACTGTCATGTGCCATGTTTAAAGTACTAAATTAGGTTACTCTGTAGTCAAAACAAGTAAGCCCTGGTCCAGACTACTCTAGGGCAAAATCCCGTTGCACTGTCCCTTTTGTTCTGCCCATGCATTCAGTTGTAGCTTTCCCTTTTGCCAGTTGACAGATAGTGACTTCTTTGCAAAACATAACCAGATTAGGTTATTTTTAGTAAACCAACTAAAATAAAAAATTCTTGACATTGGGAAGAAGTATTTTAACAGAATAATAGTAATGTTTTTATTGTGCCATTGTGATTTTCTATAAAGAAACACCCAATATTCATTATTTATATTTTTTTAAATTTACAACTCTTTAACTGTATCCAACATTTCACTGCCAGGAATATAGTCAGGCTCGAAGCTTTTTTAGAAACCCATGATCCAATCCATACCAACACTTCCTTTAGTTTATGGCTTCTGTTCATTTGCACTGTCCAGAAAGGTACTGCTACCATTTGTAGTCACTCCAAAAAAAAGTGTGAACTACCTAGGTATAACTCTCATAAGACGTATACAGCAGCATCTGTATGCTGAAAGTTACCAAAAAAGTATTACTTGCAGATGATTTTGCACCTTAGTTCCCAAGTGCCCCTGTACAGAATATGGAGCTTATGTCCTGTCTCTCTTTGAATGATGAGTGATGAAGGAGCTTCAGATGTTACTGGGTGAGCTTGTATTGAGTGTTACAAAGAGAAGTCATTCTGCCTTTCTTTGGCTCTAATTGCAGAAAGTGAAGTCACTGCTTTTGCTGTCTTGGATCAAGACCAGAAAGAAATTATTGATACCAATGGAGCTGGAGATGCATTTGTTGGAGGTACAGACTAATTTATTTCATTCTTACTTACAAGTAAAACATTTTAACCCTTGTTTCTACCATATAACCAAGATTTATTCATTTAGTAACTTCTAATTTCTTCTTTTAAATAATTAACTTCTGAAGTTCTTTCCATATACTTCTATCATTGTCAGTATTAGAGGGTTTTACCAGAGGAAAAATATGTGTTTGGAAAAGATAATTTGCTACTATGCTGTACCCCAGTCATTTTCACAAGATTAATTGTATCTGTCAGAAAATTGCATAAACAAACTGCATCAAGTACAGTATATAGTATATTCATAGCCCTTCAGGCTTAAATGTTAACACATTTTTGTTCTTTAAAACAAGTTGTGATGAATATTAAACAGTATGCTAATAACTAAGGATGATGTCTTTTGATGATAATCCTTTGGTTAAAACATCTGTTTCAAACACAATAGTGGTTGTTTGTTATACTAAAAAGGGTTAAATTTTTGCCTATTTTTGGCTCAATAAGAACTGGCAAATTTTATGTGAACTAATGATTTTGGTAATGAATACTCAAAAATAAAATCAAAACAATAGAAGACTTGGCTTGATGACTTAGATTGATCTAAAATCTGATTCAAAAATTCTTTTGATAAGTCTAAATTCCTTCTAGTTAAGTGTAGTTAATTAAGCTAGTTTATAGTCTCTAGAAAGCTTTCGCTTCCTCACAGATACCCCAAAGGGGTCTTTCCTGGTCTCTGTTTCTTTCTCTTAACATCAAGCCAGACCAGGTTAATTTAAAAAAAAAAAAAAAAAAGCAAGCAAGTGGAGCTGATGATTGTCCCTTTTTCTCTGGAGGATAATTTGAATCATGGGAAACTTATTTAAGTTTGTGTGATGGTTTTAACTTAATATTTTATTTTAATAGTCTTTTGCCAACATAAATTTTTATTTTTCTTTCTCTAAAACTATTCATGCCCAGTCTTTTTTTTTTTTCTCCCAGGCTGGTGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGACCACAGGTGCATGCCTCCACACCTGGCTGATTTTTGTACTTTTAGTGGCGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCATGCCCAGTCTTAAATGAACTATTAACCATTAGGATGCCCCATGCCCTTGTTCTTTGGAAAGAGTCTGTACCACAGACAACATTCTACTTCACTGTTATGATTGTGTTTTTTATTTCCTTGCTCGGAAAGTCTTCATTATTGATAATATTAGAGTACTTAGCAGCCAATTTTCCTATTTTTTACTTTTTAGAGCTATAGATGTATGTAGGCTAAAATATTTTATTCTGAATTTAACCATATTCTGTAATACATTAAGAAAACCCTAGTGATTTCTTGGTTAGAAATTGGTCAAACCAGGAATCTTAGTCTAGAAACTTTTAAACTTATACACTGTATGTACATTACTTAAGTACTTTAAAATCTTTAAAACATGAAGTATTCTATTTCTTTGACATTCAGTGGGACACATAATGAGGCCATCATAGATTTGATGGTGACCTAAATAGCCACTACCTCTGGCCTTGGGTTACTTGGCTTCCTGGCCCGGCAACAACAGATTCTGTTACAGACACCTAACTATCTGTAATGCTACCGATACTAGGTGAGAACATGTAGACTTTTTGAGGGAGGGAGAGGCCATTCTTAGGATACTGAGGTAGGAACAGCTAGCTACCATTTGTATTGTGGTTACAACGATAAATAAACTACTTCATCAAAGCAATTGGGATTTTTTTGTTAGAGGATTTTTCAGCCTCTTTTTATCCTACTTCATTATATTTATTGTTGGGGTATAGTTAGGTAAGCAAAAAAGAAAAAGAGTATAGAACAGGGATCCACAGTCGTCTTTTTTAAAGGCCAAATAGTGACTATTTTAGGCTTTGCAAGTCATATACAGGCTGTATTGCATATCTTCTTGTTTTGTTTGCTTCCTTGTGTTTTGTTTTTTTAC
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ATTTCTTTATAAGTATTTATGGTACAGACCTTTTCCTAAATCAGACTGCAGACCTTTCCTGAGTATTTCTAATAAAGTCTGCTTACATTTTTTTTTTGGCCTGCATAGTAGTTTGTGCTATATATACTCTCTAGAAAATGTAATTCTGGATATTTGTGCCATAACTTTCAATTAATCAAAATCTTGTCAACTGCCATATAGGCCCTCATGTTACAAAATGTGGAAAGTTCAGTTACTTAAAGAGTTTGGCTGGGCATTGTGGCTCACACCTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCAGATCACTTGAGGTCAGGAGTTCAAGACGAGCCTGGCCAACATGGCAAAACCTATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGCACATGACTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTACTTGAACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAATAGAATGAGACTCCGTCTCAAAGAAAAAAAGTTTAAGCCAGATGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGACCAAGGCAGGAGGATTGCTCGAGCACAGGAGTTTGAAACCAGCTTGGGCAACAAAGTGAGACCCTGTCTCTACCCACCCGCCCCCCAAAAAAAAGCAAAAAATTGACCAGCTGTGGTGCTGCGTGTCTGTGGTCCCAACTACACAGGAGGCAGAGAGAATCCCTTGAGCCCAGGAGGTCAAGGTTGGAGTGTGTTATGATTATACAACTGCACTCCAGCCTGGATGACAGAGCAAGACCTAAAAAAAAAAAAAAGATTTTAAAAAAGATTGACTAAGTGAATGAGTCCTCTTCTTGAATATCAGTCATTCCAGGAGAGTATTTTCATTAACATATTTATGTCTCTTGTTGAAAGTATCCATTAAGAGCAGGTAGCAAAAGCTAGACAGAATATGCTTTTGAAGATTCTCTATGCTCTTTATTAATACCTTTCTTAAGTTTCTCAAGATCTCCTTTTGCCTCCCTCTTGATCTTAAACGAGACTGAAGTTTAAGAGTCTTTAGCCACTCTGTCCCCATAGGGATGCAAATTTATGATTTCAGAAGTTCCAGCCCCCAATAAGAAGCACTGTCCAATCGTTTGCAGATGTATCTTGTAAGCCAGATTTCATGACAGATAAGTCCATTCCACTGTCATGTGCCATGTTTAAAGTACTAAATTAGGTTACTCTGTAGTCAAAACAAGTAAGCCCTGGTCCAGACTACTCTAGGGCAAAATCCCGTTGCACTGTCCCTTTTGTTCTGCCCATGCATTCAGTTGTAGCTTTCCCTTTTGCCAGTTGACAGATAGTGACTTCTTTGCAAAACATAACCAGATTAGGTTATTTTTAGTAAACCAACTAAAATAAAAAATTCTTGACATTGGGAAGAAGTATTTTAACAGAATAATAGTAATGTTTTTATTGTGCCATTGTGATTTTCTATAAAGAAACACCCAATATTCATTATTTATATTTTTTTAAATTTACAACTCTTTAACTGTATCCAACATTTCACTGCCAGGAATATAGTCAGGCTCGAAGCTTTTTTAGAAACCCATGATCCAATCCATACCAACACTTCCTTTAGTTTATGGCTTCTGTTCATTTGCACTGTCCAGAAAGGTACTGCTACCATTTGTAGTCACTCCAAAAAAAAGTGTGAACTACCTAGGTATAACTCTCATAAGACGTATACAGCAGCATCTGTATGCTGAAAGTTACCAAAAAAGTATTACTTGCAGATGATTTTGCACCTTAGTTCCCAAGTGCCCCTGTACAGAATATGGAGCTTATGTCCTGTCTCTCTTTGAATGATGAGTGATGAAGGAGCTTCAGATGTTACTGGGTGAGCTTGTATTGAGTGTTACAAAGAGAAGTCATTCTGCCTTTCTTTGGCTCTAATTGCAGAAAGTGAAGTCACTGCTTTTGCTGTCTTGGATCAAGACCAGAAAGAAATTATTGATACCAATGGAGCTGGAGATGAATTTGTTGGAGGTACAGACTAATTTATTTCATTCTTACTTACAAGTAAAACATTTTAACCCTTGTTTCTACCATATAACCAAGATTTATTCATTTAGTAACTTCTAATTTCTTCTTTTAAATAATTAACTTCTGAAGTTCTTTCCATATACTTCTATCATTGTCAGTATTAGAGGGTTTTACCAGAGGAAAAATATGTGTTTGGAAAAGATAATTTGCTACTATGCTGTACCCCAGTCATTTTCACAAGATTAATTGTATCTGTCAGAAAATTGCATAAACAAACTGCATCAAGTACAGTATATAGTATATTCATAGCCCTTCAGGCTTAAATGTTAACACATTTTTGTTCTTTAAAACAAGTTGTGATGAATATTAAACAGTATGCTAATAACTAAGGATGATGTCTTTTGATGATAATCCTTTGGTTAAAACATCTGTTTCAAACACAATAGTGGTTGTTTGTTATACTAAAAAGGGTTAAATTTTTGCCTATTTTTGGCTCAATAAGAACTGGCAAATTTTATGTGAACTAATGATTTTGGTAATGAATACTCAAAAATAAAATCAAAACAATAGAAGACTTGGCTTGATGACTTAGATTGATCTAAAATCTGATTCAAAAATTCTTTTGATAAGTCTAAATTCCTTCTAGTTAAGTGTAGTTAATTAAGCTAGTTTATAGTCTCTAGAAAGCTTTCGCTTCCTCACAGATACCCCAAAGGGGTCTTTCCTGGTCTCTGTTTCTTTCTCTTAACATCAAGCCAGACCAGGTTAATTTAAAAAAAAAAAAAAAAAAGCAAGCAAGTGGAGCTGATGATTGTCCCTTTTTCTCTGGAGGATAATTTGAATCATGGGAAACTTATTTAAGTTTGTGTGATGGTTTTAACTTAATATTTTATTTTAATAGTCTTTTGCCAACATAAATTTTTATTTTTCTTTCTCTAAAACTATTCATGCCCAGTCTTTTTTTTTTTTCTCCCAGGCTGGTGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGACCACAGGTGCATGCCTCCACACCTGGCTGATTTTTGTACTTTTAGTGGCGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCATGCCCAGTCTTAAATGAACTATTAACCATTAGGATGCCCCATGCCCTTGTTCTTTGGAAAGAGTCTGTACCACAGACAACATTCTACTTCACTGTTATGATTGTGTTTTTTATTTCCTTGCTCGGAAAGTCTTCATTATTGATAATATTAGAGTACTTAGCAGCCAATTTTCCTATTTTTTACTTTTTAGAGCTATAGATGTATGTAGGCTAAAATATTTTATTCTGAATTTAACCATATTCTGTAATACATTAAGAAAACCCTAGTGATTTCTTGGTTAGAAATTGGTCAAACCAGGAATCTTAGTCTAGAAACTTTTAAACTTATACACTGTATGTACATTACTTAAGTACTTTAAAATCTTTAAAACATGAAGTATTCTATTTCTTTGACATTCAGTGGGACACATAATGAGGCCATCATAGATTTGATGGTGACCTAAATAGCCACTACCTCTGGCCTTGGGTTACTTGGCTTCCTGGCCCGGCAACAACAGATTCTGTTACAGACACCTAACTATCTGTAATGCTACCGATACTAGGTGAGAACATGTAGACTTTTTGAGGGAGGGAGAGGCCATTCTTAGGATACTGAGGTAGGAACAGCTAGCTACCATTTGTATTGTGGTTACAACGATAAATAAACTACTTCATCAAAGCAATTGGGATTTTTTTGTTAGAGGATTTTTCAGCCTCTTTTTATCCTACTTCATTATATTTATTGTTGGGGTATAGTTAGGTAAGCAAAAAAGAAAAAGAGTATAGAACAGGGATCCACAGTCGTCTTTTTTAAAGGCCAAATAGTGACTATTTTAGGCTTTGCAAGTCATATACAGGCTGTATTGCATATCTTCTTGTTTTGTTTGCTTCCTTGTGTTTTGTTTTTTTAC
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Task1_train_14082
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Given this variant in gene KCNMA1, KCNMA1-AS1 (potassium calcium-activated channel subfamily M alpha 1| KCNMA1 antisense RNA 1) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Generalized epilepsy-paroxysmal dyskinesia syndrome
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TGTTTTGGTGTCTCCCAAGTTGGAGGGTCCATGTGCCAAGGGACGGCAGTGGAAGAAGTCAACATGTTTAACAGACTACACCCAATATGTGTGATTTTTAGGGATCAGGTAACAATGGGGTTTTCCTCTGGTGTCTCTCCAGTTTTCCACCTGTCGCAGTGGGGTTTGAAAGCTCTAAGGAGATTATGCTTCTCCCTCACTTTAAGTCAAAGTGTAAAGCTTGATGGTCTCAGATGTATGCTCAGCTGAGGAGATGAACCCTTCTCTGCAAAATGGTGATTATGTTCAGTCCCAGCTCAGCTGTAACCGCTGTGATAGGCTCGTGTTGTCAAAACTGTCTGAGTGATAATGAAAACCACCGCAAGGAGGAGGACCCCACCAGGTCCTATGGTGACAGACTCTTTCAGGAGGTAAGGACCCTGTGAAAAGCACAATTTACAGACCTCAGAGATGGCAAGGGTGCAAGAGAATGTGTTTCCCTAGGAGCCAGGGGTCTGCAGGCTGAATAACTAGGATTCGCAGTTCTGATCAGTTCACAGCCACCTTCCCGGGGTCTGGGGCCTGATGCAGAAAGTGAAAGCAAATGCATCCACTTGGAAATGCTGGCTTCAGCGGCCAGGTGGCTTCAGGTAGATGTTACCTGTATTATATGAAGGGCACTGGGCACTGCGGGATGGCTTCACTGGGTATAAAATGACTGTCTTTGTCCTTCCAATCATTGGAATTCTCATATTGGTCTCATACCAAAGAACACTGATGGGACCAAATCTTACCATTATCTAAAGTCTTTATCCTAATCAAGTGCATCAATAAGTAAATGATAGGTATAAAGAGCCACTAGCTATGAAAATTCCCTTTCAAAAAAAGCCTAGTCTAACATAGGTCCCAGTCCATGATCAAACTAAAATATGGGGAAAGTATGCAGCACTGTTTCAGAAAAAACAGAGACAGACCCTTTCCTTGGCTCCTTTTCCACTATTTAGTCTTTCTGGGCGACACCATTGTTTGTGTAACAGGTTTATCAGTTTCTGTGACTTATGGCTGCATCTCTTAAATGCATCTGTGGGGTTGGGCTGGGAATAAGGGCAAAGACAGCACACTTCTGTCACAGTGCCTACACTAGGCAGATACATGGAATCAGAAGGGAGACGCTGGCCACTTCCGTCACAGGGAGGACATGAGGGAACGTGACTGGGTCCACTCTCAGAAATTACAAGGTCTAGGTTTTGATTTACAGGCATTAAAGGATCCACATAAGATTCGGTTTGTTTGGCCGGTGGTTCTGGATACATCTGACTACTGACTACCCTGGTGCTTTGAAAACCACCAGTGCCTGGGTCCTATTCACATATAAAAACTAAGAAACCTGCAGGCTGAGGCTGGCCACCTCCATGTGCTATTAATGTATAGTTGGGTTGAGTATCCCTAAGCTACGCTAAGAGCCTGTGGAAATATTTCCCAACCTTGGCTGCATGCTGGCATCACCTGCTGCTTCTCACCTTGTGCAGAGGATACGTGAAGAGAACACCAAGGAGGGAGAAAGCCCACTGGCTCTGAAGCCAGGATGCCTTGGTGCAAATTCCCAATAGGTCTAGTGCTCATTCTCTCTGGGCCTCAGTTGACTTAGAAGGTGTGATACTAGAACTTATATCAAAGGGTTGCTATGAAGATTAAAATGAATGACTATGCATAGAGCAAAGTGTCTGATCCAGAGTAAACTATAAATAAATATCACCTCTTACAGTTATCTACAATAGGAAGGAGAAAAGCCAGATGCCTAGCTTGTCACATCTGATACCACGTTCTTCAGGATCAAGCTTTTCCCAAACAGCAAGCTCAGGTGACCTCGGTGCTGTGGACTCACCCCTAAGTCCGCAAATGGCCCATCGAGCAGAGCTAACTGGGCCACGCGGCAGCGGTCCCTATTGGCCAGTGTCTGCGGGGTGCTGTAGCCACCTCTAAGGGCGTTTTCCTCAGCAATCAGAGCCTCCAGCTCCGGCGTGGCTCCTCCGGTCACCAGGGTCCGTATCAGGGTGAGGATATTGTCATTGAAGTACGTCTGGGGAAGGAGAGAAAGTGAGGGAAAAGTCCTTTAAGCAAACACCCTAAAGTCATGACAGCCGACATCCAAATTACAACTTTTCTTGGTATCTCCTGTTTAAAGTTCTGGCCTGTCTCTTCAAATAATTTCATGTGGGGAGTGAAAAGACAGCAGCCTCCAATTATTCCGTTATTTTCTCTCTTGCTTGGCTCTGCTACGACAGCCTGACTTAAAAAACCCAGTTCAGGGGATTTTTTAGTAAAGGGCTCAAATCTGAATAATTAGTGTTTGCCATAATTGGTTTTAGTAGGGATACAAATATTGCCTCCCCCTCCTAAAGTCTACGTGACTACTATGAGATTCTGGACACGTGTAATAAAATGCAGCCTGCCCCAGCTACTAACCCAAGCAGCATTGTCTCTGAGGCCCTGTCATCCATGTGCCAGGAAGCTTCCTCCCCACGACAACGGCAAAACCTTTCATTAATGCCACACGCTTAACGATTTACCACATGCGTTGATAACTGTCTAACTCAGAAATCTCGATCAATTAAATATGCCGGATAAATTTATGAAAAGGTGAATGTCCTGGTAAGTGTACTTTGGCTTTTGTTTTCTAAAATAACCTCAGTAGTCTGAGGCAAATATCACTTATTAAAGAAGTTTCCCTCTAAGTGTACATTTGTGTCACATCTGAAACATAACAGATCTGTCAGGAACAAAAGAATGGGAGTTTAAAAAAAATTAATAGGATGTCAAATAAAGGAGCTTTAAAAGGTATTTGTCACCAGCCTAATTTGAGAAATTCTCAGGTAAGGGTGTGCATTCCATTTTCCTATGTAAGTAGAAATCAAGCAGGCTAAAAAACTCAAATCAAAGTTTGCCTGTGGCTTTTGAGGATGCACTTTGGAAAGAGGTAAGGAAAGATGCAATTGCACCTCAGCAGCTTCTTAGAGAGTTTAGCTGGCAAGGCATAGTAGGGAACAAACCAAGTAAGGGTGAGCTCAAGTTCCCATCCCAGGTTTGCTAACTAGTTCTATGTCTTGGAGGTTGCCTAGTCATTCTGGACTTTGATTTTTCTCGTCTGTAAAATAACAGTGGTCATTAAAACCAAATTTATATTCACATAATTCCATGAGGACTTCTGAATTAAGATGATAGTTACTAGCGGGGCTGGATTCACAATCCTCATTGAAATACTTACAAAAACACCCATTGTGATACAAAATTCCAACTGCAAAAGAATTTAGGAATGTTATCCATAGCCTGCCAGACCCTAAAGGAAATTTATGCTCAGAGTTAAGATATGCCCTTAGGCACAGAAGCAGAAAAAGGATACTTAAAGTAGGATATGTTTCTGGAGAGGTTATGGGATCCAGGGATCCAGAGCTGGGCTGAGGGGTTTAATGCTGACTTCACCTCTCAGAAGCTGTGTGACCTTGGAAAGTTATTTAACATTTTTGTGCCTCCGTTTCATGATCTGTAAAATGTAATAATAGAAGGCTGTGGGGCTCTATGACCTACCCATGAAGCACTTAGAAACATGCTTGGTGCACAGGAAGCACTGATAAACATTTTGGCCTCATATCAGAGACATGAGGCCTTTGCCAAGTAGAGGAACAGTCAGCTCCATTCTCAACTTTCCTTTGAATTTTTAATCTTCTTTGTTTTCTTGGAGGCGTGGGGAACTCAGGGCTTTAAAAACCAAGCAAGGGATTTTAAACTCGATGTGGTAGAAAATGGGAGGTCAGCCAAGCATGGTGCACACCTGTAATCCCAGAACTTTGGTAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTGAGGTCAGGAGTTGGGACCAGGCTGGCCAACGTGGTGAATCCTAGTCTCTACTAAAAATAAAAAAATTAGCTAGGCATGGTGGCGGGCACCTGTAATCCCAGATCCTCGGGAGGCTGAGGCCAGAGAATTACTTGAACCCGGGCGGCAGATGTTGCAGTAATCTGAGATCATGCCACTGCACCCCAGCCTGGGTGACAGAGTGAGATTCTGTCTCAGAAAAATAATGAATAA
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TGTTTTGGTGTCTCCCAAGTTGGAGGGTCCATGTGCCAAGGGACGGCAGTGGAAGAAGTCAACATGTTTAACAGACTACACCCAATATGTGTGATTTTTAGGGATCAGGTAACAATGGGGTTTTCCTCTGGTGTCTCTCCAGTTTTCCACCTGTCGCAGTGGGGTTTGAAAGCTCTAAGGAGATTATGCTTCTCCCTCACTTTAAGTCAAAGTGTAAAGCTTGATGGTCTCAGATGTATGCTCAGCTGAGGAGATGAACCCTTCTCTGCAAAATGGTGATTATGTTCAGTCCCAGCTCAGCTGTAACCGCTGTGATAGGCTCGTGTTGTCAAAACTGTCTGAGTGATAATGAAAACCACCGCAAGGAGGAGGACCCCACCAGGTCCTATGGTGACAGACTCTTTCAGGAGGTAAGGACCCTGTGAAAAGCACAATTTACAGACCTCAGAGATGGCAAGGGTGCAAGAGAATGTGTTTCCCTAGGAGCCAGGGGTCTGCAGGCTGAATAACTAGGATTCGCAGTTCTGATCAGTTCACAGCCACCTTCCCGGGGTCTGGGGCCTGATGCAGAAAGTGAAAGCAAATGCATCCACTTGGAAATGCTGGCTTCAGCGGCCAGGTGGCTTCAGGTAGATGTTACCTGTATTATATGAAGGGCACTGGGCACTGCGGGATGGCTTCACTGGGTATAAAATGACTGTCTTTGTCCTTCCAATCATTGGAATTCTCATATTGGTCTCATACCAAAGAACACTGATGGGACCAAATCTTACCATTATCTAAAGTCTTTATCCTAATCAAGTGCATCAATAAGTAAATGATAGGTATAAAGAGCCACTAGCTATGAAAATTCCCTTTCAAAAAAAGCCTAGTCTAACATAGGTCCCAGTCCATGATCAAACTAAAATATGGGGAAAGTATGCAGCACTGTTTCAGAAAAAACAGAGACAGACCCTTTCCTTGGCTCCTTTTCCACTATTTAGTCTTTCTGGGCGACACCATTGTTTGTGTAACAGGTTTATCAGTTTCTGTGACTTATGGCTGCATCTCTTAAATGCATCTGTGGGGTTGGGCTGGGAATAAGGGCAAAGACAGCACACTTCTGTCACAGTGCCTACACTAGGCAGATACATGGAATCAGAAGGGAGACGCTGGCCACTTCCGTCACAGGGAGGACATGAGGGAACGTGACTGGGTCCACTCTCAGAAATTACAAGGTCTAGGTTTTGATTTACAGGCATTAAAGGATCCACATAAGATTCGGTTTGTTTGGCCGGTGGTTCTGGATACATCTGACTACTGACTACCCTGGTGCTTTGAAAACCACCAGTGCCTGGGTCCTATTCACATATAAAAACTAAGAAACCTGCAGGCTGAGGCTGGCCACCTCCATGTGCTATTAATGTATAGTTGGGTTGAGTATCCCTAAGCTACGCTAAGAGCCTGTGGAAATATTTCCCAACCTTGGCTGCATGCTGGCATCACCTGCTGCTTCTCACCTTGTGCAGAGGATACGTGAAGAGAACACCAAGGAGGGAGAAAGCCCACTGGCTCTGAAGCCAGGATGCCTTGGTGCAAATTCCCAATAGGTCTAGTGCTCATTCTCTCTGGGCCTCAGTTGACTTAGAAGGTGTGATACTAGAACTTATATCAAAGGGTTGCTATGAAGATTAAAATGAATGACTATGCATAGAGCAAAGTGTCTGATCCAGAGTAAACTATAAATAAATATCACCTCTTACAGTTATCTACAATAGGAAGGAGAAAAGCCAGATGCCTAGCTTGTCACATCTGATACCACGTTCTTCAGGATCAAGCTTTTCCCAAACAGCAAGCTCAGGTGACCTCGGTGCTGTGGACTCACCCCTAAGTCCGCAAATGGCCCATCGAGCAGAGCTAACTGGGCCACGCGGCAGCGGTCCCTATTGGCCAGTGTCTGCGGGGTGCTGTAGCCACCTCTAAGGGCGTTTTCCTCAGCAATCAGAGCCTCCAGCTCCGGCGTGGCTCCTCCGGTCACCAGGGTCCGTATCAGGGTGAGGATATTGTCACTGAAGTACGTCTGGGGAAGGAGAGAAAGTGAGGGAAAAGTCCTTTAAGCAAACACCCTAAAGTCATGACAGCCGACATCCAAATTACAACTTTTCTTGGTATCTCCTGTTTAAAGTTCTGGCCTGTCTCTTCAAATAATTTCATGTGGGGAGTGAAAAGACAGCAGCCTCCAATTATTCCGTTATTTTCTCTCTTGCTTGGCTCTGCTACGACAGCCTGACTTAAAAAACCCAGTTCAGGGGATTTTTTAGTAAAGGGCTCAAATCTGAATAATTAGTGTTTGCCATAATTGGTTTTAGTAGGGATACAAATATTGCCTCCCCCTCCTAAAGTCTACGTGACTACTATGAGATTCTGGACACGTGTAATAAAATGCAGCCTGCCCCAGCTACTAACCCAAGCAGCATTGTCTCTGAGGCCCTGTCATCCATGTGCCAGGAAGCTTCCTCCCCACGACAACGGCAAAACCTTTCATTAATGCCACACGCTTAACGATTTACCACATGCGTTGATAACTGTCTAACTCAGAAATCTCGATCAATTAAATATGCCGGATAAATTTATGAAAAGGTGAATGTCCTGGTAAGTGTACTTTGGCTTTTGTTTTCTAAAATAACCTCAGTAGTCTGAGGCAAATATCACTTATTAAAGAAGTTTCCCTCTAAGTGTACATTTGTGTCACATCTGAAACATAACAGATCTGTCAGGAACAAAAGAATGGGAGTTTAAAAAAAATTAATAGGATGTCAAATAAAGGAGCTTTAAAAGGTATTTGTCACCAGCCTAATTTGAGAAATTCTCAGGTAAGGGTGTGCATTCCATTTTCCTATGTAAGTAGAAATCAAGCAGGCTAAAAAACTCAAATCAAAGTTTGCCTGTGGCTTTTGAGGATGCACTTTGGAAAGAGGTAAGGAAAGATGCAATTGCACCTCAGCAGCTTCTTAGAGAGTTTAGCTGGCAAGGCATAGTAGGGAACAAACCAAGTAAGGGTGAGCTCAAGTTCCCATCCCAGGTTTGCTAACTAGTTCTATGTCTTGGAGGTTGCCTAGTCATTCTGGACTTTGATTTTTCTCGTCTGTAAAATAACAGTGGTCATTAAAACCAAATTTATATTCACATAATTCCATGAGGACTTCTGAATTAAGATGATAGTTACTAGCGGGGCTGGATTCACAATCCTCATTGAAATACTTACAAAAACACCCATTGTGATACAAAATTCCAACTGCAAAAGAATTTAGGAATGTTATCCATAGCCTGCCAGACCCTAAAGGAAATTTATGCTCAGAGTTAAGATATGCCCTTAGGCACAGAAGCAGAAAAAGGATACTTAAAGTAGGATATGTTTCTGGAGAGGTTATGGGATCCAGGGATCCAGAGCTGGGCTGAGGGGTTTAATGCTGACTTCACCTCTCAGAAGCTGTGTGACCTTGGAAAGTTATTTAACATTTTTGTGCCTCCGTTTCATGATCTGTAAAATGTAATAATAGAAGGCTGTGGGGCTCTATGACCTACCCATGAAGCACTTAGAAACATGCTTGGTGCACAGGAAGCACTGATAAACATTTTGGCCTCATATCAGAGACATGAGGCCTTTGCCAAGTAGAGGAACAGTCAGCTCCATTCTCAACTTTCCTTTGAATTTTTAATCTTCTTTGTTTTCTTGGAGGCGTGGGGAACTCAGGGCTTTAAAAACCAAGCAAGGGATTTTAAACTCGATGTGGTAGAAAATGGGAGGTCAGCCAAGCATGGTGCACACCTGTAATCCCAGAACTTTGGTAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTGAGGTCAGGAGTTGGGACCAGGCTGGCCAACGTGGTGAATCCTAGTCTCTACTAAAAATAAAAAAATTAGCTAGGCATGGTGGCGGGCACCTGTAATCCCAGATCCTCGGGAGGCTGAGGCCAGAGAATTACTTGAACCCGGGCGGCAGATGTTGCAGTAATCTGAGATCATGCCACTGCACCCCAGCCTGGGTGACAGAGTGAGATTCTGTCTCAGAAAAATAATGAATAA
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Task1_train_14083
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A variant on Chromosome 10 in gene KCNMA1, KCNMA1-AS1 (potassium calcium-activated channel subfamily M alpha 1| KCNMA1 antisense RNA 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; Generalized epilepsy-paroxysmal dyskinesia syndrome
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GTACTTAAAGGGAGAATCATTGCTTTCACTGTTTTCCTTTCCCCTTGATGGTTCACTCCTCCCCAGGAGAGGAGGAGCATCTACCAAGGGTTGGTCACATCCTGTTCATGTGAAGGTTTACTGTGCTTTAAAAGGGCACATTTGAGTTGCCTGGGGATCTTGTTGGAATGCAGATTCTGACCCAGCAGGTCTGGGATGGCCCATGAGGTTCTGTAACTCTAACAGCCTCCCCCAACAGACACCCATACTGGGGCAGGGCAGAGAGGACACATATTGAAAGTCAAGGGCTTAAAGGCAGGAACCAAATGCCGGCTTGCCTCTTTCAACTCCTAGAAGGTCAGCTTACTGTCTTCTCACATCCTTTCTCGCCTGTGCTACCCGGGCAGGCCGCACAGGATGCGGGCTCTACCTCTTCAGGATGCAGCTGGGAGTAAGCTCAGAGCCTCTCCTAGGCCTTCACATGTTGTGCTGTCCTGCGGGCACAGCTGAGCAGGTGGATACCAAGATTTAGATTTGGGTGTGGCAGGGAGGACGGTGGCATGGAGAGGTCAAAATTAGGCTTCAGGCTGTATCAGGGTGATGTCAGAAGGACAGAAGCCATTTCACATGCACCACCAAAGGGGAAGGTTCTCTTAAGCTTGACCAGAAGCTGCTGTGAATCTCAAGATCCTCAGAGAAGCCCCAGCCCCTCTCTCAGTCTGTAGCAGTGAAGACACTGGCTCCCAGAAAGCTCATCTGATAGAAGATTTGAACCTGGGTCTGCCAGGGTCTGGCTGCAGTTGCCTCCAAAGAATCAAAGCCTATCTTTCTCCTCCACTTTCCAAATCTCACCCCAGTGCCCATCTCCCACCAGCTGACTCTAGCCCAGAGCCATGCAGGGAAGAGGATTCCAGGAACTATTGTTCCTGGCTTTTCTGCAATGCTAAGCAAATGTTAGAAGGCAGTGGTGGTGATGTCAAGTTGACAAAAAATAATGTAGCTCACAGGTCCAGGATGCATGATTCAGCTGAGCTTCTAGAAAGCCTGGCATGATGGGGAGGAGGTCAGACACTTGCCAAGCTATCAATAAGGTGATGCTTCATATCCCAGTAGCCATAGCTCTCATGGGCTGTGCTCCTACACCCTTCCATCCTGGACTGATGGGATTCTGGTCCCCATCAGGCAGCCAATGCCACCCTCTGGCAGCTCGTCTGTAACAACTATCCTCCAATTCATGGCTAGCCTACACGGAGGTGTCACTCAATGGAAAATGCTTTGCATCCTATCCTGCCAGATCCTGATTACAGAGGTCATTTTTTATGAAGGTTTTGCTGTGTTGCCTTTCTGAGACCCCTAGACATCTTTACTTGTAACCACCTGCCCAGGGTCCCAAAGCAAATGACAGGAAAGACTAGGGGCAGAGTAGGAAGGCAGACGTGTGTCACTTAAGGCTGCTTTGCCTCCTATAGGAAAATGTGTGGTCTGACAAGTGTCACCATTTGCTAAATGACTTTTAGTGTCCATAGAGTTGCCACTCTCCAGAGATTACCATCCCTTGGTCAGCAGAGTCCTAGAGGCGGCTCTAACAATAGCAAAGCTTCATTCCCATCCCAGCTCAATGGCAAAAACATATACTGGAAGGAAACGGTCAGAATTGTGCAGCCAGCTTCTTTTCAGTGCTCTGACATTTAGCTGATGACACTGGTCATGAAGCCACTCCTTGGGAAAGCTGAGGGGGTGGCTATTTAAAGGCTTGTTTATCCTCTGGAAAGGCAACCTAGTCTGTGTGTGGGTGACCAGGTCTCAAGCCTGCATTCTGGAATGGAAAGAAGAGGCAGCAGATGCCCCTTTGAAAGCCATCATGGTGACCGCAGGTTTCACTGCCAGGCAGGCTGATGTGAGCCTCTTTGAATTACTGAGTGAAGGATATCCCTCTTGCCAGCCCCTGTCCCCTGCAGGCACAGCAAAGAAGTATTACAGGCTGTCCTTACCTTGGGAATTAGCCTGCAAGACTCCGATGCTGTCATCAAACTGCATAGATTTGATGTTGAGTGACGCCAAGATGCATTCCTTGTCCTGCAGCGAAGTATCATCAATATTATTCTGATTGGCTGACAGGATAACGCACATGTCACAGAGGTTGATGTTGACAGCCCTTAAATCAGCCCGACTTAATGGCGTACCCTTTGGCATAGAGGAAAGAAAAAAAAACAGAGATGGGGGGAGAAAGAGACAGAGAGAGAGAGAGAGGAGCAAAAGTGAGAGGAGAGGGAAAGAGGAAAACAAATTAAAGATTGAGTCGGAGCTTTGGGAAATTATTTAACAAGTATCTTTTTTATGCCTTGACATTAAGCTGGCCTAACTACATTCAAGGGAATAGGAGCTGTGTGCTAATCTAAAGGGTAGTCGGTGCTGATGGCAGCATTTTAAGCTTGTTCTCAATACTCAATCAAGCTATTACTAACAAACGCGGGAGAGGAATAATGCCAGGGTTCTACATCTTCTTCCTGCCTGGAAATTGTCTTGATTTAAGTAACTGTCCTGTGGCAACCTCTGGCTTTCAGAATGTAACAAGGGGGTGGGTTTCAAATGCCTGTTTATTTAATAGCGGGTCACTTCTGTCTCAGGCAAAAGACAGCAGTTCCAATGCAGCCAAGGAGAAATGGCCAGTGAGCACAGAGTGATGAGGTGGGCCTGGATGTGCGGCTCAATTTGGAGGCTATGGATGGAGTGGAATTAATGTGTGCAATGCAAAAGAGATATGGAAAGGAGTTAAGCTTCAGATCATATAATTTTATTGCATATTTTCAGCAAGAAAAAAATACACAGGGAAATGACCTAATTGTCCAACAACATAGGAATGGAGAAATATACTTTTGGACATGCACACAGTGAAAATGTATGCAGGAGGTAAAGAGGCAGAGCTGGCTCTCCATGCAGGCATTGGTTTAGAAGCCTAAGATAGAGGGGGAAGTGAAAAAAAAAGTTCTACAGCAGTTAAAAAAAAGTATAGTTTCATTTATGTAAAAAAAAAAACCCACAAAATAAAATTACATATATATAAATGTATGTAAATTTGGAAGGAAAGCACAGGAAAAATAGCCATTACACTAATAATGGTAATTCCCTCTGGGAAGGGAAATAGGATTCGTGGGGGTGAGGGGAAAGTTTGCTTTTCACTTTATATACTTCTATATTGCTTGAATATTTTATAACAAGAACATATTTGTATATTACAGGTACATTTAAAAAATAAATAAGCCAGTAAACAGATTTTTTAACATAAAAAATAACAACAAAAGACAGTGGAAAAATCCCAGATCCAGGAAGTAACAACAGAGTCCGGGAATGCAAGCATAGGGAAAATAGAAGGGTTAGGTTAGGACAGGGCCATGGCCTCCACATGCTCTGTGTCTTCAGGTGAAGCCACAGCAAAATCATCAGGCCACCCCATGCCATAGCTCCCCAGTGGCCACGCGGCATCATTTTGGGGCTCCTGTCTGGCCACCAGCTTCATTGGTCCTCTAGCTTGAATCTAGCTTCCTCTTTGCCTGTGTGGTGACCTGAGTTACCTTCAACTCACTGATTGTGTAGACCAAGGGTTTGCCAACTGTCACATATCTGGGAATGTCCTCCTCTAATCTCCCTTTCTGGAGAACTGGCTTTGGAAAGAGACTTGGCTGCAGAGATGGAGCCTATCTACCCTCTTTTATGAGTCACTGGTAGTCATGATTCTATTCTCAGGCCCTAAAATATTGTGCAACTATGGAGGAAGGGGCATTTAGCACTGTGGTTGCTGCTGAGACACAACTAGTTCCAAGCTCTGGAGCAGCGTCTTTTTGAGAGAAGGAGAATGCCCTCTTCTCCTGTGATCTCTTGGTACAAAACAAGTCCAACCAACTTCCTGAATCATTTTGCCAGTGCATAAGCTTCAATTGCCTGCATCCATATTCTTTTAATTTTCATCTTGTAGGGAAGCCAGCCGTAATTGTGATATAAGATGATCCCTGTGCAGTTGTACACACGTGATTTCAAACTACAAGAAATACAAATGACATACATAGAAATCGCTTATGTTTCTCTGGGCTGGCCCTATAGGCAGGGTACTGTTTAACCA
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GTACTTAAAGGGAGAATCATTGCTTTCACTGTTTTCCTTTCCCCTTGATGGTTCACTCCTCCCCAGGAGAGGAGGAGCATCTACCAAGGGTTGGTCACATCCTGTTCATGTGAAGGTTTACTGTGCTTTAAAAGGGCACATTTGAGTTGCCTGGGGATCTTGTTGGAATGCAGATTCTGACCCAGCAGGTCTGGGATGGCCCATGAGGTTCTGTAACTCTAACAGCCTCCCCCAACAGACACCCATACTGGGGCAGGGCAGAGAGGACACATATTGAAAGTCAAGGGCTTAAAGGCAGGAACCAAATGCCGGCTTGCCTCTTTCAACTCCTAGAAGGTCAGCTTACTGTCTTCTCACATCCTTTCTCGCCTGTGCTACCCGGGCAGGCCGCACAGGATGCGGGCTCTACCTCTTCAGGATGCAGCTGGGAGTAAGCTCAGAGCCTCTCCTAGGCCTTCACATGTTGTGCTGTCCTGCGGGCACAGCTGAGCAGGTGGATACCAAGATTTAGATTTGGGTGTGGCAGGGAGGACGGTGGCATGGAGAGGTCAAAATTAGGCTTCAGGCTGTATCAGGGTGATGTCAGAAGGACAGAAGCCATTTCACATGCACCACCAAAGGGGAAGGTTCTCTTAAGCTTGACCAGAAGCTGCTGTGAATCTCAAGATCCTCAGAGAAGCCCCAGCCCCTCTCTCAGTCTGTAGCAGTGAAGACACTGGCTCCCAGAAAGCTCATCTGATAGAAGATTTGAACCTGGGTCTGCCAGGGTCTGGCTGCAGTTGCCTCCAAAGAATCAAAGCCTATCTTTCTCCTCCACTTTCCAAATCTCACCCCAGTGCCCATCTCCCACCAGCTGACTCTAGCCCAGAGCCATGCAGGGAAGAGGATTCCAGGAACTATTGTTCCTGGCTTTTCTGCAATGCTAAGCAAATGTTAGAAGGCAGTGGTGGTGATGTCAAGTTGACAAAAAATAATGTAGCTCACAGGTCCAGGATGCATGATTCAGCTGAGCTTCTAGAAAGCCTGGCATGATGGGGAGGAGGTCAGACACTTGCCAAGCTATCAATAAGGTGATGCTTCATATCCCAGTAGCCATAGCTCTCATGGGCTGTGCTCCTACACCCTTCCATCCTGGACTGATGGGATTCTGGTCCCCATCAGGCAGCCAATGCCACCCTCTGGCAGCTCGTCTGTAACAACTATCCTCCAATTCATGGCTAGCCTACACGGAGGTGTCACTCAATGGAAAATGCTTTGCATCCTATCCTGCCAGATCCTGATTACAGAGGTCATTTTTTATGAAGGTTTTGCTGTGTTGCCTTTCTGAGACCCCTAGACATCTTTACTTGTAACCACCTGCCCAGGGTCCCAAAGCAAATGACAGGAAAGACTAGGGGCAGAGTAGGAAGGCAGACGTGTGTCACTTAAGGCTGCTTTGCCTCCTATAGGAAAATGTGTGGTCTGACAAGTGTCACCATTTGCTAAATGACTTTTAGTGTCCATAGAGTTGCCACTCTCCAGAGATTACCATCCCTTGGTCAGCAGAGTCCTAGAGGCGGCTCTAACAATAGCAAAGCTTCATTCCCATCCCAGCTCAATGGCAAAAACATATACTGGAAGGAAACGGTCAGAATTGTGCAGCCAGCTTCTTTTCAGTGCTCTGACATTTAGCTGATGACACTGGTCATGAAGCCACTCCTTGGGAAAGCTGAGGGGGTGGCTATTTAAAGGCTTGTTTATCCTCTGGAAAGGCAACCTAGTCTGTGTGTGGGTGACCAGGTCTCAAGCCTGCATTCTGGAATGGAAAGAAGAGGCAGCAGATGCCCCTTTGAAAGCCATCATGGTGACCGCAGGTTTCACTGCCAGGCAGGCTGATGTGAGCCTCTTTGAATTACTGAGTGAAGGATATCCCTCTTGCCAGCCCCTGTCCCCTGCAGGCACAGCAAAGAAGTATTACAGGCTGTCCTTACCTTGGGAATTAGCCTGCAAGACTCCGATGCTGTCATCAAACTGCATAGATTTGATGTTGAGTGACGCCAAGATGCATTTCTTGTCCTGCAGCGAAGTATCATCAATATTATTCTGATTGGCTGACAGGATAACGCACATGTCACAGAGGTTGATGTTGACAGCCCTTAAATCAGCCCGACTTAATGGCGTACCCTTTGGCATAGAGGAAAGAAAAAAAAACAGAGATGGGGGGAGAAAGAGACAGAGAGAGAGAGAGAGGAGCAAAAGTGAGAGGAGAGGGAAAGAGGAAAACAAATTAAAGATTGAGTCGGAGCTTTGGGAAATTATTTAACAAGTATCTTTTTTATGCCTTGACATTAAGCTGGCCTAACTACATTCAAGGGAATAGGAGCTGTGTGCTAATCTAAAGGGTAGTCGGTGCTGATGGCAGCATTTTAAGCTTGTTCTCAATACTCAATCAAGCTATTACTAACAAACGCGGGAGAGGAATAATGCCAGGGTTCTACATCTTCTTCCTGCCTGGAAATTGTCTTGATTTAAGTAACTGTCCTGTGGCAACCTCTGGCTTTCAGAATGTAACAAGGGGGTGGGTTTCAAATGCCTGTTTATTTAATAGCGGGTCACTTCTGTCTCAGGCAAAAGACAGCAGTTCCAATGCAGCCAAGGAGAAATGGCCAGTGAGCACAGAGTGATGAGGTGGGCCTGGATGTGCGGCTCAATTTGGAGGCTATGGATGGAGTGGAATTAATGTGTGCAATGCAAAAGAGATATGGAAAGGAGTTAAGCTTCAGATCATATAATTTTATTGCATATTTTCAGCAAGAAAAAAATACACAGGGAAATGACCTAATTGTCCAACAACATAGGAATGGAGAAATATACTTTTGGACATGCACACAGTGAAAATGTATGCAGGAGGTAAAGAGGCAGAGCTGGCTCTCCATGCAGGCATTGGTTTAGAAGCCTAAGATAGAGGGGGAAGTGAAAAAAAAAGTTCTACAGCAGTTAAAAAAAAGTATAGTTTCATTTATGTAAAAAAAAAAACCCACAAAATAAAATTACATATATATAAATGTATGTAAATTTGGAAGGAAAGCACAGGAAAAATAGCCATTACACTAATAATGGTAATTCCCTCTGGGAAGGGAAATAGGATTCGTGGGGGTGAGGGGAAAGTTTGCTTTTCACTTTATATACTTCTATATTGCTTGAATATTTTATAACAAGAACATATTTGTATATTACAGGTACATTTAAAAAATAAATAAGCCAGTAAACAGATTTTTTAACATAAAAAATAACAACAAAAGACAGTGGAAAAATCCCAGATCCAGGAAGTAACAACAGAGTCCGGGAATGCAAGCATAGGGAAAATAGAAGGGTTAGGTTAGGACAGGGCCATGGCCTCCACATGCTCTGTGTCTTCAGGTGAAGCCACAGCAAAATCATCAGGCCACCCCATGCCATAGCTCCCCAGTGGCCACGCGGCATCATTTTGGGGCTCCTGTCTGGCCACCAGCTTCATTGGTCCTCTAGCTTGAATCTAGCTTCCTCTTTGCCTGTGTGGTGACCTGAGTTACCTTCAACTCACTGATTGTGTAGACCAAGGGTTTGCCAACTGTCACATATCTGGGAATGTCCTCCTCTAATCTCCCTTTCTGGAGAACTGGCTTTGGAAAGAGACTTGGCTGCAGAGATGGAGCCTATCTACCCTCTTTTATGAGTCACTGGTAGTCATGATTCTATTCTCAGGCCCTAAAATATTGTGCAACTATGGAGGAAGGGGCATTTAGCACTGTGGTTGCTGCTGAGACACAACTAGTTCCAAGCTCTGGAGCAGCGTCTTTTTGAGAGAAGGAGAATGCCCTCTTCTCCTGTGATCTCTTGGTACAAAACAAGTCCAACCAACTTCCTGAATCATTTTGCCAGTGCATAAGCTTCAATTGCCTGCATCCATATTCTTTTAATTTTCATCTTGTAGGGAAGCCAGCCGTAATTGTGATATAAGATGATCCCTGTGCAGTTGTACACACGTGATTTCAAACTACAAGAAATACAAATGACATACATAGAAATCGCTTATGTTTCTCTGGGCTGGCCCTATAGGCAGGGTACTGTTTAACCA
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Task1_train_14084
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This mutation is located in gene KCNMA1 (potassium calcium-activated channel subfamily M alpha 1) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; not provided
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GGATACAAAGGTGAATCCTAGCAATGGAAGCATGAGCAGCCAGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGGAGACAGGGACTGGAGTGCAGTGGTGCCATCTTGACTCACTGCAACCTCTGCCTCTCAGGATCAAGTCATCCTCCCACCACAGCCTCCAGAGTAGCGAGGGCTACAGGCACGTGCCCCTATGCCTGGCTAATCTTTCTATTTTTGTATAGATGGGGTCTCACTGTGTTGCCCAAGCTGGTCTTGAACTCCTGAGCTCAAGTGATCTTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCAACCACACCTTACCAGCTTGTTTATTCAAACTAAAGCAGTGGATGAGAGAAAAGTGGCTGCCTCTGTGAATCTGACCAGTCTTTCAGACCCATGACAAGTCATACCTCATTCAGAAGCCTGCCCGGGTAATACCATAGACTGATGCTCCTTGAAAGAGATGTCCCCAGTCACTTCTGCCACCTGATCAAAATGACTTCAGCATCCCTTGGATAACACAGGGTTGATGTTGTCTCTAATGGTTGCATGTGTGTTCATCTTGAAATGCCCAACTCATGTGGGGGCACAGCCTACACACTATACCTCTAGAGAACTTTCCAAAACGCTCAGTAGAGGATGGGCCACACAGCAGGTAATCAGTGGCTAAGCACTGAATGGAACCTGTGGGTACCTGCTCCTGTGCTAACATAGCCTGGTCTGTTTTTTCAAAGTTTGGAGAAATCAGTGCAGAAAAGAGAAATGTTGGTGCCCCAACATGGTGACAAGTCAGAAGTCTAGCATTCTGTGAGCAAATGCCAGAGGACGACGATCCACCAAACAGGGAGTTTGTAGGGAAGCCGACCTCAGTGGAACCTCAGAGTAGGACCGCGTGCTGGGTAGTCAACAGCACGTCAAGCCAGCACAAACATGTTAGCTTTGTCCTGGACTTTGCGATGTGGTGCCAGGACTGGCCCCATGACAGCCCCATCTCCATAAAAGAAGATGACCATGGTACCACACATGTCACCATAATGGAGCCCCCTAATTCTCTCCATTCCTGGGGCAGACTACCTTTTATCTAAAAAGAGGATTAGTCAAAGTTGAAAACCTCAACATTGGGTAGAAGGGAGATACCTTGCTTTCCTCCCCTGTAAAACATACAAGATAAGACCTACCTCCTAAGTGGATTATACAACCAAATATATGTTATTTTTCAGGCTGATAGCTAACACTTATTGAAGACTTACTGCACGCCTGACTCTGCTCTGCACACTTCATATGGATTAATTCATTTCATTCTCATCACAGCCCAACTAGGTAGGAACTACTATCATCTCCATGATTTATGGATGAGGAAGCTGAGGCACAGGGAGCTTAAGTAACTTGCTCAGCCAGTAGTTGGTTGAGTCAGGATTCAGATCAGGGAATCTGAGTCCAGAATATGTATTTTTACTCTGTTTGTGGAGTAAATGGGAGCCTGCATGCACAGTGACGGGCTAGGGTCCCATGCTGGGGGTTCCTAGGAACGGCAGTTGTTATTACTATTACCTTCTGTCCTGCTTCCTCTTAAGTTGGTGTCTTGCTTGGTCACCAACTGACTCCAGAACTCCTAACGTATCCACACCATACAGCTAATCATCCCACAGCAGATAATGTGGACACGCCAGATTGCTAAGGGGACAATGATGATGACTTGGACCCACAATGAGCTCCACTATTATTTCTTCCAGAGATAAACTCGGATGTGGTCCCAGAATCGCCTCCACAGAGGCAGACTCTGCTCTCATCATTGAACCAGTGTGTTGCTTCCCTTTCCATTGGTTCTGCAATATCTTCTCCAACGAGGCCAAAAGGGATCATGGCTTACCCAACTCTGGCCCCATCCCCAGTGCCATTCCCCAAGACCTCCACTCTTACAGACATTCAGGGAGTCCCTCGCAGGGTGTGTGGTTGGGCAGAGGGTCTGACAGCAGTAGGAAGCTCTTACTTGTGAAGAAAAACGATCTCCACATTGACGTCATCCCGGTCCTTGTGCAGAAAGTCCTTCAGGAAGTTGGAAACACTCTCCAGAGTGATGTGTCCGCAGACCACAATGTGCCTGAACAGGAGAGGCCAGTTAGATCAGGCCAGGCACCACGACAGGACCCTGCATCCCACCCCCTGGCAAGACAGCAGAAGCCAGGCAGCTGCAGGGGAAGCATTCATCTCCTCCCTCCGCCTCCATAAAAGCCCAGCTCCCATCCCCAGAGGGCAGTGAGGCAAAGCAGCGGTGCTAGCAGGTGCTGAGACTCCTAGACAGAAAAGCCATATGGCTTCTCACCTGATGCTGCACAAAATCCTATTAAAAGCCCAACTGTTTGGCCAAGTGGTTTTATGCATTTAACAATAAGTGACATTATGCTTGTGCTTAAATGCTGCATTATCAAGTCCCTTGCAGATTCATATCTCTCCCTTTCTGCCCACAAAGCGTCCTCCGGGGAGATTTACTGTATGAGTCTTGGTTTATGACATAGAGCTTATCAGGTAATGAGATAACAAATCTTGCTGAAACGATGATTTTGTGTGTAAGAAAGCAGACTTTTATCAGGGTGGCTAATGTGCGGCCTGACACGTTATAGGTTCTGCTGGCCATAAGCAGTAAAAAGGAAATTTTGCATTTTTCCACTATAACTCCTCCGACAATGGGGGCATGTAACACTTTACAGTAAGTGAGCATTACTCAGGGCTAAATGGGGCTGGGATGCCTATGGAATGGAAGATCATGCCAGCTGGCTGTGCGTCCCCAGAGGGCTGCTTCCTTAGGGTGCCCGGGATTTCCAGGAGAGCTAAAGGAATTTACCTCAAGATGGGGAGATGCTGGGAAGGGATGAGGCTGGAATTGCTCGCCTTGTTTGAGGGTGGTTTGGACTTCTGTTTCTGGAAGTAGTGGCTCACCCGGAAGAGATGAGCCCCACAACTGTTGAGACTGACAGTCCCTCCAACCGCTCGGGGCTCCTGGCCAATCTGACTTTGGCACCAGGCAATGTCATGGCCACTTATATGTGCCACATAATGCCCAGTCAGGAGTGAGCATTTGATGCAAGAGTCAGCCACAAGACAAAAAGCCAGGGACTGACTGTGGAGATAAAACCACTGGCTTCTAGTGAAGAGACTGTATGTAGCAAGAGGCTCGACTCCTGTCCCTGTGCCCCCCAGGCTCATAGTGACAGCATCTGAGTCTCTAGCTGCGCTCTGAGACTTGGGCAGGTGGTGAACATGCAGCATGGTAATTTCCTGGGTAAAATTTAGAATGGCCATGTCCCTTGCACTTCATAATTGCTCTGTGCACATTCCACTAAGGCAGAAAGCTCATTGGCTGGAGGTGGCTCATAATAGGAGGCAGTGATGATGGCTTATGCAATGTTCCATTAGATGCCATTATAAGAGCCTGCCCTTTCGTTGTAATTTGGTGCTTGACTAAGTATGTGAGAATAATGCAGTAAACTCATTGGTGAAAGGATAATGATGCAGAACAAAGAGTAAATCAATAATATGCACGATGCAGTTAATAATATCACCATTATAGACTGTTATTGTTACGGTGGTGCACTTAGCAATCAGGCACGCAGCGGCCACCAAGGTGAGGGAAGAGTGTCAATGAGCTACTTCAGAAGAGATGTCTTAACATGATCACTTTGCTCTCCTGCTAGGTTGATGAAGGTCCCTTAGCCACCCACCCAAATTTTATGCCCAAAGCCCATATGACTAACCCCCTCATTAGTATATGGTGAGTAGTATGAGGCTAAGACAGTGTGACACACAGTGTATCAGAATACACAATATAGATTGAACATTTGGATGATATGCATTTTATCATATATTTTAAAATGTTTCTTGTGGCACATGTACATTTACATGGACAAAATACTTCAAATAAATTTGCACGTTCTGAATAAGATTTCAGACTTTGAATTTGCCAAATATGTTTGAAGTGAATGAGAAACAGAATTCCCCTACTGACCTAACTTCCTTGCAACTGACAATAGGGCTACTTTGCCATTCTAACATCCTCTGCACATAGACTTCCAA
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GGATACAAAGGTGAATCCTAGCAATGGAAGCATGAGCAGCCAGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGGAGACAGGGACTGGAGTGCAGTGGTGCCATCTTGACTCACTGCAACCTCTGCCTCTCAGGATCAAGTCATCCTCCCACCACAGCCTCCAGAGTAGCGAGGGCTACAGGCACGTGCCCCTATGCCTGGCTAATCTTTCTATTTTTGTATAGATGGGGTCTCACTGTGTTGCCCAAGCTGGTCTTGAACTCCTGAGCTCAAGTGATCTTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCAACCACACCTTACCAGCTTGTTTATTCAAACTAAAGCAGTGGATGAGAGAAAAGTGGCTGCCTCTGTGAATCTGACCAGTCTTTCAGACCCATGACAAGTCATACCTCATTCAGAAGCCTGCCCGGGTAATACCATAGACTGATGCTCCTTGAAAGAGATGTCCCCAGTCACTTCTGCCACCTGATCAAAATGACTTCAGCATCCCTTGGATAACACAGGGTTGATGTTGTCTCTAATGGTTGCATGTGTGTTCATCTTGAAATGCCCAACTCATGTGGGGGCACAGCCTACACACTATACCTCTAGAGAACTTTCCAAAACGCTCAGTAGAGGATGGGCCACACAGCAGGTAATCAGTGGCTAAGCACTGAATGGAACCTGTGGGTACCTGCTCCTGTGCTAACATAGCCTGGTCTGTTTTTTCAAAGTTTGGAGAAATCAGTGCAGAAAAGAGAAATGTTGGTGCCCCAACATGGTGACAAGTCAGAAGTCTAGCATTCTGTGAGCAAATGCCAGAGGACGACGATCCACCAAACAGGGAGTTTGTAGGGAAGCCGACCTCAGTGGAACCTCAGAGTAGGACCGCGTGCTGGGTAGTCAACAGCACGTCAAGCCAGCACAAACATGTTAGCTTTGTCCTGGACTTTGCGATGTGGTGCCAGGACTGGCCCCATGACAGCCCCATCTCCATAAAAGAAGATGACCATGGTACCACACATGTCACCATAATGGAGCCCCCTAATTCTCTCCATTCCTGGGGCAGACTACCTTTTATCTAAAAAGAGGATTAGTCAAAGTTGAAAACCTCAACATTGGGTAGAAGGGAGATACCTTGCTTTCCTCCCCTGTAAAACATACAAGATAAGACCTACCTCCTAAGTGGATTATACAACCAAATATATGTTATTTTTCAGGCTGATAGCTAACACTTATTGAAGACTTACTGCACGCCTGACTCTGCTCTGCACACTTCATATGGATTAATTCATTTCATTCTCATCACAGCCCAACTAGGTAGGAACTACTATCATCTCCATGATTTATGGATGAGGAAGCTGAGGCACAGGGAGCTTAAGTAACTTGCTCAGCCAGTAGTTGGTTGAGTCAGGATTCAGATCAGGGAATCTGAGTCCAGAATATGTATTTTTACTCTGTTTGTGGAGTAAATGGGAGCCTGCATGCACAGTGACGGGCTAGGGTCCCATGCTGGGGGTTCCTAGGAACGGCAGTTGTTATTACTATTACCTTCTGTCCTGCTTCCTCTTAAGTTGGTGTCTTGCTTGGTCACCAACTGACTCCAGAACTCCTAACGTATCCACACCATACAGCTAATCATCCCACAGCAGATAATGTGGACACGCCAGATTGCTAAGGGGACAATGATGATGACTTGGACCCACAATGAGCTCCACTATTATTTCTTCCAGAGATAAACTCGGATGTGGTCCCAGAATCGCCTCCACAGAGGCAGACTCTGCTCTCATCATTGAACCAGTGTGTTGCTTCCCTTTCCATTGGTTCTGCAATATCTTCTCCAACGAGGCCAAAAGGGATCATGGCTTACCCAACTCTGGCCCCATCCCCAGTGCCATTCCCCAAGACCTCCACTCTTACAGACATTCAGGGAGTCCCTCGCAGGGTGTGTGGTTGGGCAGAGGGTCTGACAGCAGTAGGAAGCTCTTACTTGTGAAGAAAAACGATCTCCACATTGACGTCACCCCGGTCCTTGTGCAGAAAGTCCTTCAGGAAGTTGGAAACACTCTCCAGAGTGATGTGTCCGCAGACCACAATGTGCCTGAACAGGAGAGGCCAGTTAGATCAGGCCAGGCACCACGACAGGACCCTGCATCCCACCCCCTGGCAAGACAGCAGAAGCCAGGCAGCTGCAGGGGAAGCATTCATCTCCTCCCTCCGCCTCCATAAAAGCCCAGCTCCCATCCCCAGAGGGCAGTGAGGCAAAGCAGCGGTGCTAGCAGGTGCTGAGACTCCTAGACAGAAAAGCCATATGGCTTCTCACCTGATGCTGCACAAAATCCTATTAAAAGCCCAACTGTTTGGCCAAGTGGTTTTATGCATTTAACAATAAGTGACATTATGCTTGTGCTTAAATGCTGCATTATCAAGTCCCTTGCAGATTCATATCTCTCCCTTTCTGCCCACAAAGCGTCCTCCGGGGAGATTTACTGTATGAGTCTTGGTTTATGACATAGAGCTTATCAGGTAATGAGATAACAAATCTTGCTGAAACGATGATTTTGTGTGTAAGAAAGCAGACTTTTATCAGGGTGGCTAATGTGCGGCCTGACACGTTATAGGTTCTGCTGGCCATAAGCAGTAAAAAGGAAATTTTGCATTTTTCCACTATAACTCCTCCGACAATGGGGGCATGTAACACTTTACAGTAAGTGAGCATTACTCAGGGCTAAATGGGGCTGGGATGCCTATGGAATGGAAGATCATGCCAGCTGGCTGTGCGTCCCCAGAGGGCTGCTTCCTTAGGGTGCCCGGGATTTCCAGGAGAGCTAAAGGAATTTACCTCAAGATGGGGAGATGCTGGGAAGGGATGAGGCTGGAATTGCTCGCCTTGTTTGAGGGTGGTTTGGACTTCTGTTTCTGGAAGTAGTGGCTCACCCGGAAGAGATGAGCCCCACAACTGTTGAGACTGACAGTCCCTCCAACCGCTCGGGGCTCCTGGCCAATCTGACTTTGGCACCAGGCAATGTCATGGCCACTTATATGTGCCACATAATGCCCAGTCAGGAGTGAGCATTTGATGCAAGAGTCAGCCACAAGACAAAAAGCCAGGGACTGACTGTGGAGATAAAACCACTGGCTTCTAGTGAAGAGACTGTATGTAGCAAGAGGCTCGACTCCTGTCCCTGTGCCCCCCAGGCTCATAGTGACAGCATCTGAGTCTCTAGCTGCGCTCTGAGACTTGGGCAGGTGGTGAACATGCAGCATGGTAATTTCCTGGGTAAAATTTAGAATGGCCATGTCCCTTGCACTTCATAATTGCTCTGTGCACATTCCACTAAGGCAGAAAGCTCATTGGCTGGAGGTGGCTCATAATAGGAGGCAGTGATGATGGCTTATGCAATGTTCCATTAGATGCCATTATAAGAGCCTGCCCTTTCGTTGTAATTTGGTGCTTGACTAAGTATGTGAGAATAATGCAGTAAACTCATTGGTGAAAGGATAATGATGCAGAACAAAGAGTAAATCAATAATATGCACGATGCAGTTAATAATATCACCATTATAGACTGTTATTGTTACGGTGGTGCACTTAGCAATCAGGCACGCAGCGGCCACCAAGGTGAGGGAAGAGTGTCAATGAGCTACTTCAGAAGAGATGTCTTAACATGATCACTTTGCTCTCCTGCTAGGTTGATGAAGGTCCCTTAGCCACCCACCCAAATTTTATGCCCAAAGCCCATATGACTAACCCCCTCATTAGTATATGGTGAGTAGTATGAGGCTAAGACAGTGTGACACACAGTGTATCAGAATACACAATATAGATTGAACATTTGGATGATATGCATTTTATCATATATTTTAAAATGTTTCTTGTGGCACATGTACATTTACATGGACAAAATACTTCAAATAAATTTGCACGTTCTGAATAAGATTTCAGACTTTGAATTTGCCAAATATGTTTGAAGTGAATGAGAAACAGAATTCCCCTACTGACCTAACTTCCTTGCAACTGACAATAGGGCTACTTTGCCATTCTAACATCCTCTGCACATAGACTTCCAA
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Task1_train_14085
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Here is a mutation in KCNMA1 (potassium calcium-activated channel subfamily M alpha 1) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Liang-Wang syndrome
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GGAGGGGCAGAATTCAGATGGCACCTCCACAGGGACTCCTGAAAGTCACTCAACCACATCTTTTCTGATGCAACTGACTTACTTTCTGCCTCCATGTTTGTTAAAAGTCCCGCCGAATTTATTCCGACTCAGGATGAGAGCAGCAATTTCGGGCACGTAGCGGGCAAACATTGCCTACATGCATGAAACAAAGAAACAAGAGCCAAAAAAAAAAAAAAATGGCATGCAGAGAGGATTCTACCGCAGCAGAGGCAGCAAAACCTCTTGGCATACTTACTTTCTTCCACTAACCGCACTATAGGAGCCCCCGTATTTCTTGCGGTTTCCTATTAACTCTATGATTTCAGGGACGTAGCTGGCAAACATGGCCTGAGAAGATAGGAGACAGAAGAGAGACTAAAAAGACAGGCCAAAGAAAAGGGGGGACCTGTTCAGAGGGTGGGGGCACTAAGATCTGAAAACACAAAAGGATTAGGCCTGCAAAGGTATATATTGATATGTTGGATCATAAAAAACTAAAAGCACGAAGAGAGCAAGCTCCCAGAAATACACAAGACAAACAAACATTGGCCACCTTGACAACTAAAGAACAAAAAAAAATCACAGTCGAGAAAAATACAAAGGCGACAGGAATAAATAAGGTGATATCTAGTTCTTCTTGCTGAAGAAAAATAGGCAAGAGGGGGACATGCTAGTGAAACTAAACACACACAGACACATGTGTGCATGCACAGACACACACAGTTTCGCAAGAGAAGATCTTCCTTTGTCATTAAAATTCAGAGGAGAATCAATGCTTTTATGAGTGACAAAAGAAAATAAACACCAAAAGATTAAAAACTACATTTTTCTATTAAAAAAAAAAAAACACTGAAAAGCTCAAAAGGGAAATTTAGGAAATCACCTGGGAGGAGAAGATAGCAAGGAGAAACACAAATCTGCCATGTTTTGTCCAACAAACATCTGGCCTGTGGCTGGCTGGATGGGTCTTTTTATCTATAGGCACCTCACGGATGCTGTAGAAATGCTTGCGTGAATGTACACATGCATGTGCACATTTATATACATTTTTAAAATGTATAGGCCCTATGCATACAAAACAGAGAGAGGTGTATGCATCACTACATATAAATGTGCGCACGGTGTACATACATGAAAGCTGTGTATGGATTAGGATTTTAATCACTCGCTTCATAAATGGCAAAAAAAAATCTAAACTTAAAATGAGCTACTTTGAAAGACAAAATGCAGCAACTGCCAACGTGTGGCCAGAAATCCCCTCGATTTACATTAGAAGGGGTGGTTTAGTGCAACATAAAGAGCTGCGTAGACTTTTAAAAAGCAAACAGTGAAACTTTCTTAGAAGAAAGGAGCAAAAATACCCCATGTGTCCGCTGCAGAATGGAGTGAGCTGTTTGCAAAACTGCACTCTGCTCACATGGGGATGTCCGCCTGGACAAGACTAAGGTGCTCTCTCTCCTTTGATGTAGGGACCCTTCTCTTTAGGGCAGGCCCCAGCCACAGTGTTTGTTGGAAGTTAGGGGAGGAACATAAAGGGGAAGGGAGAGCTCTTGAAACCGCAAACTGTCTCTACAAAGTATCGACAGCTTCTACCAGAGGCAGGTGACAGCCACTGTCCTTGTAGCATACCAGATGCTGAGTTACATTGCTAAGGGGTAGACACTCTCCCTTATTAACAGCATCACTTTTCTTAAGACAATTAGGTTTGCTCCTGGCTAAATGGCTGTCCCCGACAAGGGCAATGTGCCTGGATCTATGGGACAAGTGTAATACACCAAGAATTATGCAGAAAAGTCACCATCGTGTTTGGATTTACTTAGCCTGATTGTAACGTTAAGGCTTGCTTCTAGTGCAGAATACAGTCTAAAATACAAAGCTTTAAGGAAATGTATCATGGAAAATATTAACAGCCATCAAAATCAACATCATAATAAAGATTTTTTTTTACCAGTCCCCCGAGGATGAAGAAGACCATGAAGAGGCGCCCAAGTGTGGTTTTTGCATAAACATCCCCATAACCAACGGTGGACATTGTGACCATGAGTAAATAGACACATTCCCAGTAGGTGAGAGCCTGGTTGTTTTGGAAATTTTCCCATGGGTCCCCTGAATTCTCCACCTAAAGCAAATGGGACAGGGGAGAAAAAAGAAAAACATGCTATTGAAGTGTATACATGCAATAAACGCGGAAGCTCGGCACTCTCGAAGGCCACTTGCTACTGCACACCACTCTCCACACGAGATGTGTGGTTCCCGGGCTGAGTTCTGTGAGTCAGGATGCAGAGCTCCTGAGCAGGACACAGAGAAAGTGGAGAAGCAGCTGCAGGAGATGTCTTCCTGGCTGATTGAGACAGAGAGGGAAAGCAAGAAGGGAAATATCTCTAGGCCTTTTCTCTTCTTCTGGTAAAATGTGGGAAGCCAGCTAAAATTCAGGGCATTGCCTCTGGCCAGGTTTTAGAGCACTCTCTTCAAGGAAAGAGCCAGAGATTCCGTCCCTGACCTTCCTCAATGGGTTTCTAAGGCCCAGATGGCCTGGATCTGCCTCTCCCACAGAAATTCTAAACACTTCCGTAGGGGGCTGCCTCCTTCCATCAGTTTATCCAAAGAGTATATATGGGCCCTGCTTATTTCTGATTCAAACAGCATCTCTGGAATCTGGCCCTGCTCTCCCTCCTTTGCAAATTGGCAATGGTGGTCCCAGCCTTGAGGCTGCTGGAATCTTCACAGGGGCATGGAAAGTGAGCTCATGAGAACAGCTTGCACTGGCACAGCCCGTTAGATCAAGGGCTGGCAAACTTTTTCAGTTTTGTGGGCGACACAGGTCCTGTTCAACTCTGCAGAGGCAAAACTTCAACAAATGGGTGTGGCTGGATTTGGAGAGCTTTGGCCCGAGACTGCAGTTTCCCCACTTTCCTGTCCTTCCATCATATTTGATCTGCCAACAAGGCTAGTAGGTGGGCAGGAAAGGTACTTTAGATACTCTCAGGAGAGAGGGAGCTGCGGGCCCAATTTTACTCAAATATGCCTGTGATCCACCCACAGGGCCTGTAGACGGTGGCCCCCAGGCCTCCACCTCTGCCTCTGCAAAATGTTTCCAGGGCCTGGCCTCTTTCACACATCAGTTTGTCCTCAATGTGCCATTTTCACAAAAGTTTCCTGGTGAACCTGAAGGGACTTCACTAATACCCGTAGTAAGGTGGGGTCATCATCTTATTAAAGACAACTATCTCCTCCACATATGTGATTTGGGTGCTTCGTGCTTGGTTACAGCAAGAATTAGGGTGATTAAGGTTGATTTTGGCCATGAATCCCATCAGCATTAAGGGCTGGGCAGGAGACTCTAGATCTGGTGACTACGTGAGGCCCCATGCCCCAACCACTGCCATCCCAGGCCTGTCTTCCTTTGGGTGATAATTACCTAAATCCCAAGTGTGGGTAGCTAAGCGCGTCCTTCTATCCCTTATGCAAATAGAGGCTCAGCCACTGGTGGTCAACTTTATCCAAAGTCTCAGAGCTAGACGAGGCTCCTTCCAGTTGTAACAGTCTATGTTTGCATGAAACACACTTCCCACAATGGCTGTGCTCTCTAAAAGCAGGGGGAAAGTCTGCCTTCGGGTGGTGTGAGGGGCTTGACTTAATACAAGGCTTTCAAAGAGTCACTAATGAAAAAGAATGAACATTTTTGAGGTACAAATCAGACAAAATAATCAAAGGTGGCTTTTCGTAAGGCGGAAGTGGAAAGAAATTGAGGGATCTGAATTTGTTGTTTACTAGGAGGTGTGGGTCCAACTTCCAACCTTGTCCCCAGACCTTTTCCAGGTGTTTGCTTAGGAAGCACTGCCATCTTGTGGCTTACTATAGTTATTGCAGACAGAAGGAAAATCTACCAAAGCCCCCATGACAATACCAATGAGCAATGAACTGAAAAATGCAGGTTAATAGTGCAAACATTACTCACCATTTGGAACTAGTTTGGGGTAAAAAGGTTGGAAACCCAGACAATTGTGTGGTTGCTTCCCATCTTCCTGTCTACAACCGAGGTGAAGTTAATTTCCAGCAAGATAAATTTTAGGTA
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GGAGGGGCAGAATTCAGATGGCACCTCCACAGGGACTCCTGAAAGTCACTCAACCACATCTTTTCTGATGCAACTGACTTACTTTCTGCCTCCATGTTTGTTAAAAGTCCCGCCGAATTTATTCCGACTCAGGATGAGAGCAGCAATTTCGGGCACGTAGCGGGCAAACATTGCCTACATGCATGAAACAAAGAAACAAGAGCCAAAAAAAAAAAAAAATGGCATGCAGAGAGGATTCTACCGCAGCAGAGGCAGCAAAACCTCTTGGCATACTTACTTTCTTCCACTAACCGCACTATAGGAGCCCCCGTATTTCTTGCGGTTTCCTATTAACTCTATGATTTCAGGGACGTAGCTGGCAAACATGGCCTGAGAAGATAGGAGACAGAAGAGAGACTAAAAAGACAGGCCAAAGAAAAGGGGGGACCTGTTCAGAGGGTGGGGGCACTAAGATCTGAAAACACAAAAGGATTAGGCCTGCAAAGGTATATATTGATATGTTGGATCATAAAAAACTAAAAGCACGAAGAGAGCAAGCTCCCAGAAATACACAAGACAAACAAACATTGGCCACCTTGACAACTAAAGAACAAAAAAAAATCACAGTCGAGAAAAATACAAAGGCGACAGGAATAAATAAGGTGATATCTAGTTCTTCTTGCTGAAGAAAAATAGGCAAGAGGGGGACATGCTAGTGAAACTAAACACACACAGACACATGTGTGCATGCACAGACACACACAGTTTCGCAAGAGAAGATCTTCCTTTGTCATTAAAATTCAGAGGAGAATCAATGCTTTTATGAGTGACAAAAGAAAATAAACACCAAAAGATTAAAAACTACATTTTTCTATTAAAAAAAAAAAAACACTGAAAAGCTCAAAAGGGAAATTTAGGAAATCACCTGGGAGGAGAAGATAGCAAGGAGAAACACAAATCTGCCATGTTTTGTCCAACAAACATCTGGCCTGTGGCTGGCTGGATGGGTCTTTTTATCTATAGGCACCTCACGGATGCTGTAGAAATGCTTGCGTGAATGTACACATGCATGTGCACATTTATATACATTTTTAAAATGTATAGGCCCTATGCATACAAAACAGAGAGAGGTGTATGCATCACTACATATAAATGTGCGCACGGTGTACATACATGAAAGCTGTGTATGGATTAGGATTTTAATCACTCGCTTCATAAATGGCAAAAAAAAATCTAAACTTAAAATGAGCTACTTTGAAAGACAAAATGCAGCAACTGCCAACGTGTGGCCAGAAATCCCCTCGATTTACATTAGAAGGGGTGGTTTAGTGCAACATAAAGAGCTGCGTAGACTTTTAAAAAGCAAACAGTGAAACTTTCTTAGAAGAAAGGAGCAAAAATACCCCATGTGTCCGCTGCAGAATGGAGTGAGCTGTTTGCAAAACTGCACTCTGCTCACATGGGGATGTCCGCCTGGACAAGACTAAGGTGCTCTCTCTCCTTTGATGTAGGGACCCTTCTCTTTAGGGCAGGCCCCAGCCACAGTGTTTGTTGGAAGTTAGGGGAGGAACATAAAGGGGAAGGGAGAGCTCTTGAAACCGCAAACTGTCTCTACAAAGTATCGACAGCTTCTACCAGAGGCAGGTGACAGCCACTGTCCTTGTAGCATACCAGATGCTGAGTTACATTGCTAAGGGGTAGACACTCTCCCTTATTAACAGCATCACTTTTCTTAAGACAATTAGGTTTGCTCCTGGCTAAATGGCTGTCCCCGACAAGGGCAATGTGCCTGGATCTATGGGACAAGTGTAATACACCAAGAATTATGCAGAAAAGTCACCATCGTGTTTGGATTTACTTAGCCTGATTGTAACGTTAAGGCTTGCTTCTAGTGCAGAATACAGTCTAAAATACAAAGCTTTAAGGAAATGTATCATGGAAAATATTAACAGCCATCAAAATCAACATCATAATAAAGATTTTTTTTTACCAGTCCCCCGAGGATGAAGAAGACCATGAAGAGGCGCCCAAGTGTGGTTTTTGCATAAACATCCCCATAACCAACGGTGTACATTGTGACCATGAGTAAATAGACACATTCCCAGTAGGTGAGAGCCTGGTTGTTTTGGAAATTTTCCCATGGGTCCCCTGAATTCTCCACCTAAAGCAAATGGGACAGGGGAGAAAAAAGAAAAACATGCTATTGAAGTGTATACATGCAATAAACGCGGAAGCTCGGCACTCTCGAAGGCCACTTGCTACTGCACACCACTCTCCACACGAGATGTGTGGTTCCCGGGCTGAGTTCTGTGAGTCAGGATGCAGAGCTCCTGAGCAGGACACAGAGAAAGTGGAGAAGCAGCTGCAGGAGATGTCTTCCTGGCTGATTGAGACAGAGAGGGAAAGCAAGAAGGGAAATATCTCTAGGCCTTTTCTCTTCTTCTGGTAAAATGTGGGAAGCCAGCTAAAATTCAGGGCATTGCCTCTGGCCAGGTTTTAGAGCACTCTCTTCAAGGAAAGAGCCAGAGATTCCGTCCCTGACCTTCCTCAATGGGTTTCTAAGGCCCAGATGGCCTGGATCTGCCTCTCCCACAGAAATTCTAAACACTTCCGTAGGGGGCTGCCTCCTTCCATCAGTTTATCCAAAGAGTATATATGGGCCCTGCTTATTTCTGATTCAAACAGCATCTCTGGAATCTGGCCCTGCTCTCCCTCCTTTGCAAATTGGCAATGGTGGTCCCAGCCTTGAGGCTGCTGGAATCTTCACAGGGGCATGGAAAGTGAGCTCATGAGAACAGCTTGCACTGGCACAGCCCGTTAGATCAAGGGCTGGCAAACTTTTTCAGTTTTGTGGGCGACACAGGTCCTGTTCAACTCTGCAGAGGCAAAACTTCAACAAATGGGTGTGGCTGGATTTGGAGAGCTTTGGCCCGAGACTGCAGTTTCCCCACTTTCCTGTCCTTCCATCATATTTGATCTGCCAACAAGGCTAGTAGGTGGGCAGGAAAGGTACTTTAGATACTCTCAGGAGAGAGGGAGCTGCGGGCCCAATTTTACTCAAATATGCCTGTGATCCACCCACAGGGCCTGTAGACGGTGGCCCCCAGGCCTCCACCTCTGCCTCTGCAAAATGTTTCCAGGGCCTGGCCTCTTTCACACATCAGTTTGTCCTCAATGTGCCATTTTCACAAAAGTTTCCTGGTGAACCTGAAGGGACTTCACTAATACCCGTAGTAAGGTGGGGTCATCATCTTATTAAAGACAACTATCTCCTCCACATATGTGATTTGGGTGCTTCGTGCTTGGTTACAGCAAGAATTAGGGTGATTAAGGTTGATTTTGGCCATGAATCCCATCAGCATTAAGGGCTGGGCAGGAGACTCTAGATCTGGTGACTACGTGAGGCCCCATGCCCCAACCACTGCCATCCCAGGCCTGTCTTCCTTTGGGTGATAATTACCTAAATCCCAAGTGTGGGTAGCTAAGCGCGTCCTTCTATCCCTTATGCAAATAGAGGCTCAGCCACTGGTGGTCAACTTTATCCAAAGTCTCAGAGCTAGACGAGGCTCCTTCCAGTTGTAACAGTCTATGTTTGCATGAAACACACTTCCCACAATGGCTGTGCTCTCTAAAAGCAGGGGGAAAGTCTGCCTTCGGGTGGTGTGAGGGGCTTGACTTAATACAAGGCTTTCAAAGAGTCACTAATGAAAAAGAATGAACATTTTTGAGGTACAAATCAGACAAAATAATCAAAGGTGGCTTTTCGTAAGGCGGAAGTGGAAAGAAATTGAGGGATCTGAATTTGTTGTTTACTAGGAGGTGTGGGTCCAACTTCCAACCTTGTCCCCAGACCTTTTCCAGGTGTTTGCTTAGGAAGCACTGCCATCTTGTGGCTTACTATAGTTATTGCAGACAGAAGGAAAATCTACCAAAGCCCCCATGACAATACCAATGAGCAATGAACTGAAAAATGCAGGTTAATAGTGCAAACATTACTCACCATTTGGAACTAGTTTGGGGTAAAAAGGTTGGAAACCCAGACAATTGTGTGGTTGCTTCCCATCTTCCTGTCTACAACCGAGGTGAAGTTAATTTCCAGCAAGATAAATTTTAGGTA
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Task1_train_14086
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A mutation found in POLR3A (RNA polymerase III subunit A) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
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GATAAAATGACCTTACCCAAGGTGAGCTTTTAGCAACCTGTGATTTTTCTTTCAAAACAAATTGTGGACTCTACCTTTCATGTGAAGGTGAAAACTGGATAAATGGATACTCCATCCTATGCAAAAATTTCTGGGCTATTCAGCAGGTGTTGTCCCATCACTTCCCAGCCTTCGCCACCCCACTGCCCCCCACCAGATTTACATTAAAAATATAAGCTGTTATTTAAAAAACTCAAACATTTCAAGAGTGAAAATATTCTCCCACTTCTGAAGCTCATAAATTTCTCTTTTTTTTGAGATGGAGTCTTGCTGGATTGCCAAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCCACCACGTACGATTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAAGTGATATGACCGCCTCAGCCTCCCAAAGGACTAGGATTACAAGCGTGAGCCCCAGCAGAATTTCCTCTTTTTTCCTCTCCTCTGCTTTGTCCAAGTTGACTCAATGTTTTAATGGCTGCATTATTATTCTTTTGTATAGACAGACCATCATGTATTTGAACTATCCTCTACTGATGGTTTGCCTTTACTGTAAGCAGCGTAGAAAAAACATTCTTGGCATAGTTAGACCATTTCTAGAGGACAAAAGGAGTTTCTGTAAGGGAAACTACTGGGTCAAAAGGGACACGTATTTAAAACTCAGAATGGTATTGTCCAGCTACTCTCCAAAAAGGTTGTTCCAAGTTATATTCTCAAAGTATGTGAAGTGTGCCTGCTTTTCAATGCCCATGACTTATAAAACTGGTCTCTAGTATGCTCTACTTGACACAGAGCGAAACCAAACAAAGCCCTCTTCTGTTGGCATTTGATTACTACCAACACTAGACTTTCAACTGAAAACAACTTTTTTTTTCATCTTTTTTTTTTTTTTAAGACAGGGTCTTGGTCTGTCACCCAGGCTGGAATGTAGTGGTAAGATCAGCTCACTGTGGCCTCAAATTCCTGGGCTTAAGGATTCACCTGCCCCAGCCTCCTGAGTAGCTGGAACTTTAGGAGCATGCCATCATCCCTGGCTAATTCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTTGCCAGGTTGGAGTGCAGTGGTGTGATCTCAGTTCATTGCAACCTCCAACTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCACGTACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGATCTTGTGATCTGCCCGATGTCTGGCTAATTCTTTAAAAAATATTTTTTTAGAGATAGAGTTTTTCCTCTGTTGCCCAGGCTGACCTCAAACTTCTCGCCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAATTGCTAGGATTCTAGGTGTAAGCCACTGCACTTGGCCTTTTTCCTTTAAATATTGGAAAGTAAAAAAAAAAAGCAAAACTTTTTTCTTTTTTTTATAGAGACGGGGTCTCACTTTGCTGCCCAGGCTAGTCTTAAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGTGATCACAGGCATAAGCCATTGTGCCTGGCCCTTCCCTTTTAATATCGGAAAATTATACAGAGTAACACAAAGAAAAAAGATACTAATCCAGTGCTTGGGATTATAAATACTGAAGTATTTATTAACTGCAATTGATAGTCCAAACAGTACTTCCGTCCTAAAGAAACATCCTTAAAAACACTCTAACCCCAGATATAATGCTAAATCTTACTTTGATGTTGTCCAGAACCCTTTTAAACTCCAAAGGTTCATCTTTTCCCTCCATAGCTGCAGGATCTAAGCCATCTCCTCCATAAATGAACTGGATAATATCGCCAGTAGAGCTTCGGACTGTCAGATCATACTGGGAGCAAAGATCTTCAAGAGATTTGACAAGCCTTCGCTAAAGGAAAAGGAGGAAAAAGCTCAGCTGCTTTGAGAAGACTAGTCACATGGGGAGAGGATAAGATTTGCAACTCAAGAGTCTCAAGGTTACAAGCACTTTAATCACATAAAAATACTTTATTAGAAACCCTTTAAAAAGAGTCCTCTCACCCCAAGAACAAGAGCAAGAATGCCTTACTAGCCTGTGCAGTGGGATTTGGAATATGCTCCAACCTCCAACATTTTAGTGTATTTTAGAACACATGCAATTTAAACCGCATCACCCACAAAGGACTCTGCAACTGCTGTTTTCCTAGGCTGTTTTACCTTCCTTCTCTTTCTCCCTAAGGTATAAATTAATGCAATAGCTTTGCATTTCTAAACAGAACTTAAGCCAGGACCCCTGCAGACTTCAATATGAATTACGGAGGATCAGGTGCAGGCCCTCTTCTGGGACAGAGGGGGAAGAAGAGAGAACAGGGACAGTATTGTGTCTGAACCAGCAGGCAGCAATGACTTCTCAAATCTGCTTAGGGAGAACCGTCCACCAGCTGAACACTCCAGCCAGCAATGCTATGGTGGCTCAGTGAATTAAAGAGAAGGAAATCTTCCTCTAGGCAACTTCAAAACAAAAAATCCCTTATGCCAGAACTAATTTAGTTTACATTAACACACTGCTCTGGCAAAGTCATACTCTCTAATTCAAAAAGTAAAGACAAAAAAATTAAGTAAAAACACACATTATGACAAGAGTGGTAAAAGTATTTCACAGTCTATTGGGTTTCTGACAAAAGCAGCATGCTCCCACACTGAAGGGCAATTTCCCATTGAAAGATGATTAATTGTATTCCATGGATGACACACACAAAAAAGACGATTAAAGGTATCAGATGATACACGAGCTACAGGAGAGATGATGGAAATAGGCGTCTACTGACTTGGAAATAGGTGTCCACTGTCACACTAATCACAGTGTTTGTTCTGGCCCACTCATTCACATCTCTGGTTTATCTACCCTGGTTTTCCAGCTTGCAAAGGGCCATGCTTCCATAGTAGGGAGAGAGAAGACACAAAGCCACAGCAAGTTCATGGCCCAGCAACTTGTAGTGTTGACTTTATCTGGTGTTTTAAGTAGTTAAAAACATTACTTAAAAAAAAAAAAAAAGCAGAAGACTCAGTAGCCAATGCGATCAACTGGAAGAAAGGGTATCAGTGATGGAAGACGTAATGAATGAAATGAAGCCAGAAGAGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAACAAAGCCTTGAAGAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCTGAAAGTGACGGGGAGAAGGGAACCAAGTTGGAAAACACTCTGCAGGATGTTATCCAGGAGAACTTCCCCAATCTAGCAAGGTGGGCCAACATTCAAATTCAGGAAATACAGAGAACACCACAAAGATACTCCTCGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCACAAAGGGAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACTCTACAAGCCAGAAGAGAGTGGGGACCAATATTCAACATTCTTAAAGAAAAGAATTTTCAAAACAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTACAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCACTAAACATGGAAAGGAATAACCGGTACCAGCCACTGCAAAAACATGCCAAATTGTAAAGACCATCAAGGCTAGGAAGAAACTGCATCAACTAACAAGCAAAATAACCAGCTAACATCATAATGACAGGATCAAATTCACAAATAAAATATTAACTTTAAATGTAAATGGGCTAAATGC
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GATAAAATGACCTTACCCAAGGTGAGCTTTTAGCAACCTGTGATTTTTCTTTCAAAACAAATTGTGGACTCTACCTTTCATGTGAAGGTGAAAACTGGATAAATGGATACTCCATCCTATGCAAAAATTTCTGGGCTATTCAGCAGGTGTTGTCCCATCACTTCCCAGCCTTCGCCACCCCACTGCCCCCCACCAGATTTACATTAAAAATATAAGCTGTTATTTAAAAAACTCAAACATTTCAAGAGTGAAAATATTCTCCCACTTCTGAAGCTCATAAATTTCTCTTTTTTTTGAGATGGAGTCTTGCTGGATTGCCAAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCCACCACGTACGATTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAAGTGATATGACCGCCTCAGCCTCCCAAAGGACTAGGATTACAAGCGTGAGCCCCAGCAGAATTTCCTCTTTTTTCCTCTCCTCTGCTTTGTCCAAGTTGACTCAATGTTTTAATGGCTGCATTATTATTCTTTTGTATAGACAGACCATCATGTATTTGAACTATCCTCTACTGATGGTTTGCCTTTACTGTAAGCAGCGTAGAAAAAACATTCTTGGCATAGTTAGACCATTTCTAGAGGACAAAAGGAGTTTCTGTAAGGGAAACTACTGGGTCAAAAGGGACACGTATTTAAAACTCAGAATGGTATTGTCCAGCTACTCTCCAAAAAGGTTGTTCCAAGTTATATTCTCAAAGTATGTGAAGTGTGCCTGCTTTTCAATGCCCATGACTTATAAAACTGGTCTCTAGTATGCTCTACTTGACACAGAGCGAAACCAAACAAAGCCCTCTTCTGTTGGCATTTGATTACTACCAACACTAGACTTTCAACTGAAAACAACTTTTTTTTTCATCTTTTTTTTTTTTTTAAGACAGGGTCTTGGTCTGTCACCCAGGCTGGAATGTAGTGGTAAGATCAGCTCACTGTGGCCTCAAATTCCTGGGCTTAAGGATTCACCTGCCCCAGCCTCCTGAGTAGCTGGAACTTTAGGAGCATGCCATCATCCCTGGCTAATTCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTTGCCAGGTTGGAGTGCAGTGGTGTGATCTCAGTTCATTGCAACCTCCAACTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCACGTACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGATCTTGTGATCTGCCCGATGTCTGGCTAATTCTTTAAAAAATATTTTTTTAGAGATAGAGTTTTTCCTCTGTTGCCCAGGCTGACCTCAAACTTCTCGCCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAATTGCTAGGATTCTAGGTGTAAGCCACTGCACTTGGCCTTTTTCCTTTAAATATTGGAAAGTAAAAAAAAAAAGCAAAACTTTTTTCTTTTTTTTATAGAGACGGGGTCTCACTTTGCTGCCCAGGCTAGTCTTAAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGTGATCACAGGCATAAGCCATTGTGCCTGGCCCTTCCCTTTTAATATCGGAAAATTATACAGAGTAACACAAAGAAAAAAGATACTAATCCAGTGCTTGGGATTATAAATACTGAAGTATTTATTAACTGCAATTGATAGTCCAAACAGTACTTCCGTCCTAAAGAAACATCCTTAAAAACACTCTAACCCCAGATATAATGCTAAATCTTACTTTGATGTTGTCCAGAACCCTTTTAAACTCCAAAGGTTCATCTTTTCCCTCCATAGCTGCAGGATCTAAGCCATCTCCTCCATAAATGAACTGGATATTATCGCCAGTAGAGCTTCGGACTGTCAGATCATACTGGGAGCAAAGATCTTCAAGAGATTTGACAAGCCTTCGCTAAAGGAAAAGGAGGAAAAAGCTCAGCTGCTTTGAGAAGACTAGTCACATGGGGAGAGGATAAGATTTGCAACTCAAGAGTCTCAAGGTTACAAGCACTTTAATCACATAAAAATACTTTATTAGAAACCCTTTAAAAAGAGTCCTCTCACCCCAAGAACAAGAGCAAGAATGCCTTACTAGCCTGTGCAGTGGGATTTGGAATATGCTCCAACCTCCAACATTTTAGTGTATTTTAGAACACATGCAATTTAAACCGCATCACCCACAAAGGACTCTGCAACTGCTGTTTTCCTAGGCTGTTTTACCTTCCTTCTCTTTCTCCCTAAGGTATAAATTAATGCAATAGCTTTGCATTTCTAAACAGAACTTAAGCCAGGACCCCTGCAGACTTCAATATGAATTACGGAGGATCAGGTGCAGGCCCTCTTCTGGGACAGAGGGGGAAGAAGAGAGAACAGGGACAGTATTGTGTCTGAACCAGCAGGCAGCAATGACTTCTCAAATCTGCTTAGGGAGAACCGTCCACCAGCTGAACACTCCAGCCAGCAATGCTATGGTGGCTCAGTGAATTAAAGAGAAGGAAATCTTCCTCTAGGCAACTTCAAAACAAAAAATCCCTTATGCCAGAACTAATTTAGTTTACATTAACACACTGCTCTGGCAAAGTCATACTCTCTAATTCAAAAAGTAAAGACAAAAAAATTAAGTAAAAACACACATTATGACAAGAGTGGTAAAAGTATTTCACAGTCTATTGGGTTTCTGACAAAAGCAGCATGCTCCCACACTGAAGGGCAATTTCCCATTGAAAGATGATTAATTGTATTCCATGGATGACACACACAAAAAAGACGATTAAAGGTATCAGATGATACACGAGCTACAGGAGAGATGATGGAAATAGGCGTCTACTGACTTGGAAATAGGTGTCCACTGTCACACTAATCACAGTGTTTGTTCTGGCCCACTCATTCACATCTCTGGTTTATCTACCCTGGTTTTCCAGCTTGCAAAGGGCCATGCTTCCATAGTAGGGAGAGAGAAGACACAAAGCCACAGCAAGTTCATGGCCCAGCAACTTGTAGTGTTGACTTTATCTGGTGTTTTAAGTAGTTAAAAACATTACTTAAAAAAAAAAAAAAAGCAGAAGACTCAGTAGCCAATGCGATCAACTGGAAGAAAGGGTATCAGTGATGGAAGACGTAATGAATGAAATGAAGCCAGAAGAGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAACAAAGCCTTGAAGAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCTGAAAGTGACGGGGAGAAGGGAACCAAGTTGGAAAACACTCTGCAGGATGTTATCCAGGAGAACTTCCCCAATCTAGCAAGGTGGGCCAACATTCAAATTCAGGAAATACAGAGAACACCACAAAGATACTCCTCGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCACAAAGGGAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACTCTACAAGCCAGAAGAGAGTGGGGACCAATATTCAACATTCTTAAAGAAAAGAATTTTCAAAACAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTACAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCACTAAACATGGAAAGGAATAACCGGTACCAGCCACTGCAAAAACATGCCAAATTGTAAAGACCATCAAGGCTAGGAAGAAACTGCATCAACTAACAAGCAAAATAACCAGCTAACATCATAATGACAGGATCAAATTCACAAATAAAATATTAACTTTAAATGTAAATGGGCTAAATGC
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Task1_train_14087
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The following genetic variant occurs in POLR3A (RNA polymerase III subunit A) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
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CACTCAAATCAGAAAATGCCCCACCTTGAGACTATAAATACCTGGCCAGTATATTCTCACTAAATGGCAGGCTTTCTTTGCCCTTTCCTTATGGAGAAATACTTTATACCAGGGACAAGGAGAATGAGGGCCCAGCCAGGGCTGGTGCTGGTGCCAGTGGCAGGCAAGTGGCCCAAGAGAGGGAAACCTAAGATCTGGATGCTCTCCTTAAAATAGGCAAGCAGTCAAGGACCTCAGAGGACACCCTGTGGATGGAGGCTGCCTGCCCATTCCCTGGGAAATGACACCTTCAAGATATCCTTCCTGTGGGCCAGACCTGCCCACCTACAAAACATAACCATGCATTGTCAATGTCTACAGGGTTTCATTCTGGGCACTGAAAATGTTCTAAAAGTAGGTTGTAGTGATGGCTGCACAGCTCTGTGATTAACAGTCACTGAACTGTGTGCCTTACATGGGTAAATTATATATGAAGTATAATTGTAATAATTACATATGAAGTATATATGTATTTAAAGTTTATTTATTTGTAGAGATGGGGTCTCGCTATGTTGGCCAGACGAACTCCTGGCCTCAAGCAATCCTCTTGCCTTGGCCTCCCAAAGTGCTAGAATTTCAGGCATGAGACACTGTGCCCGGCCTGAAGTGTATCTTAATAAAATGGCAAAAAATACATATATAAAACTCCACATGAAATTGGCCAACGGTCTTTGATCTGAATAGGTCTGTGTTCCTTGGAGGAAAGTGTAGATTAAGAGATCTTCACAGTTCTACCTGATCTGCTACTGCTTACCTTTGAGTGTTTTTCAAAATGAGGCAAGGACCTGTTTTCAAAGCCGTCTGGCACTCGAGAGCCACTGATGGCCTGCTGTCCCACACAGGCAATCATCTGTGATATGTTAATGAAGGAACCTGGGGACATGGACCAGAAATGTAACATTCATTTACCAAAATAACACTAATTGAAGTGCATGCAGATTGGAAGGGTAAAACAGGAATAGGCCCTTATGCTCAATGAGGTCATGGTCCTGGAACAGTAGAAGACAGAAATACAATCAAGACAACAAGGAGCTGTCAGGAACCCAAGAAAGGCGGAACGACGGCGAGAGGAGCCAGGAGCATGTGTGGGTTGGAGGAAAGGCTGGGGAAGTGACAGGTGAGTCTTCAAGGAGGCTTCAGCAAGTCCAGGTTGGACTCCTGGAGGACATTATGATTTGGACATAAAGGGAGAGGGGGAGGAATTCCAAAGTGGGTGGGAAAGTAGGAAGCAAAGACAGAGAAATGGAAAAGTGTGGGCTATGTCCTGAGGGTAGGAAGCAGGAGAGCAATGGGGTAAAAGGCAGCAAAGTTAAAGAGACTGGACTTTATCCTGTTTAAAAAAAAAGTGTACAGAAATAGAAGCACAGAGGTTTTGAATTTGAATGCATTATCATAAAACCAAATGCTTTGAGGGCCTCGGTATCTACAAAATAGAAGAATTATGCCACATCATTAAGTACATTAAAAAATCCCTGGCTTTCTTCTGCTTCAACCTGCCTGACCTGCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGATTAGCTGGGACGACAGGCACAAGCCACCACGCCCAGCTAATTTTTTTTTTTTTGTATTTTTTGTAGAGATGGGGTTTTGGCATATTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCAATCAATCGGCCTCGGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCTGGCCTCATTTTTTTTTAAAGACCACGTTGCTCAAAGCACCCTCAAACTCAGAATCCAGACACATTACCAACAAGTTCCTTCAAAGCAGTTAAACTTCCCAAAATGCAAATAATTAAGTCTCTCTCTCTGATTTAAAAAGATCCCTTAAATAAATGAAATGTCTGTTTGGAGCTGTGACTATCACATTTTCTGGAGCCAAACAGCCTGTACGGAGAACACACTGCCAGCAGGTGAGAGAGGGGCATGCAGACCTTTGGAGCCGCACAGAGCCATGGTGAGGGGGCTGTTGCTCTTGTCCAGCTCCCGGAGGCAGGCACTGCCAGCGTGGTCACGGATCACAGACAGCTCCTTCAGGATCAGTGCCTAGTGGGAGAAAAGGAGATCCTTGGTGGGTTGTCCTCATTGTCTCTGTGGATTACAAATGTTCAATCTAACATTTAAAGAAATTTGAAAATACTGAGGCAAGATGCCCGATTTCCGATCAGTAAATGTTTCAGAACCTTAGAGGAGCAAAATGCCCTGGCTATATGAACATGTACATCTTCTACAAGGTTCTAAAATTGGTGTATAAGGCAAACAGTTTATCTTTTTTTTGTTTTTGTTGGAGACAGGATCTCACTCTGTTGCTGAGGTTGGTGTACAATGGCATAATCACAGCTCACTGCAGCCTCAAACTCCCGGGCTCAAGTGATCCTCCTGCCCCAGACCCCTGAGTAGCTAGGACTACAGGTATATGTCCCTACCAGGCCTGGCTAATTTTTAAAATTTTTTTTGTAGAGATGGGGTCTTGCTATACTGCCCAGGTTGGACTTGAACTCCTGGCCTCAAGGGATCTTCCTGCCTTGATTATAGGCATAAGCCACCAAGCCTGGCCTAAAATTGACAGTAATAAAAACTTGAAGAATCCTTTAAATGGCCCATAAGGTAGAATGTATGGCTTTGTGTATACTACCCTACACAACAAAATATCTGTATATAAATAGCTGTGTGGACACACACATGCACCCCATACAAATATATAAGATAATATGTGGTATGTAAAAGAGAATTGCCTGTACTATTTGTAAATTTGTCTTTCTACTTTTTCTTGCCAAGCACACATCTGAATGTCTGCAAGCTAGGCATGTGATGAGGTGACTTCACAAGAATATTCCGGCTCATGAGCTCATCCACAGTTACTCCTCAACTTACAAACTAGGATGCTGAATCAGTTACAAGTCTGGTTCCATGAAAAATTGCTGCTGCCGAGGTCTCAAGTAATTTTCTAGGAGGTACCGGTGAGGGATATCCTTTTCTCTCTCTCTAAGACTCAGTAAGATTAAGAATGAGCTAATGGTAAATACCTCACAAAATTCTGGTTTCTCCCTGCTTTAGAAAATGTATTTCATTAGAAAACTTCCCAATGCTTAAAGAGCCTTTCTTCCACACTCAGGTGAGTCAAAGCTCAGTGCCACGGGTTTATCGGTGAGGCAGAAGACGGCCAGGTGAAAGCCTGGTGCACTCAGACTGCTGAGGGAGTTTCAGGTTCTCACAGGCTGGTGGTGATTCTGATTCTGACCCATGCTGGTTGAGATCTTAGCTAAAATAGTTTCAAATGAGGGGCAGCAGGCTGGGGATGTGACTATTAGACATGAATTCTCCCTCTTCCGCATCCAAGTCTCTTTCAAAGACCATACATTCAAAGAGCTGTGGTGAGGCTGGGCACGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAAGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGGCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATGCAAAAAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTTAGGATGTTGAGGCAGGGATAATTGCTTGCACCCAGGAGGTAGAGGTTGCAGTGAGATGAGATTGCACCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCCATCTTAAAACAAAACAACAACAAAAAAACTGGCTGGGCGTAGTGGCTTACACCTGTAATCCCAGTACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCGTGCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGAGGGTGAGGCAGGAGAATTGCTTGAACCAGGGAGTCAGACGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCAGCCTGGCTGGAGTGCTTCATAAAACTATGAAAAGCGAGACTCCGTCTCAAACAAAAACAAAAACAAAAAAAACC
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CACTCAAATCAGAAAATGCCCCACCTTGAGACTATAAATACCTGGCCAGTATATTCTCACTAAATGGCAGGCTTTCTTTGCCCTTTCCTTATGGAGAAATACTTTATACCAGGGACAAGGAGAATGAGGGCCCAGCCAGGGCTGGTGCTGGTGCCAGTGGCAGGCAAGTGGCCCAAGAGAGGGAAACCTAAGATCTGGATGCTCTCCTTAAAATAGGCAAGCAGTCAAGGACCTCAGAGGACACCCTGTGGATGGAGGCTGCCTGCCCATTCCCTGGGAAATGACACCTTCAAGATATCCTTCCTGTGGGCCAGACCTGCCCACCTACAAAACATAACCATGCATTGTCAATGTCTACAGGGTTTCATTCTGGGCACTGAAAATGTTCTAAAAGTAGGTTGTAGTGATGGCTGCACAGCTCTGTGATTAACAGTCACTGAACTGTGTGCCTTACATGGGTAAATTATATATGAAGTATAATTGTAATAATTACATATGAAGTATATATGTATTTAAAGTTTATTTATTTGTAGAGATGGGGTCTCGCTATGTTGGCCAGACGAACTCCTGGCCTCAAGCAATCCTCTTGCCTTGGCCTCCCAAAGTGCTAGAATTTCAGGCATGAGACACTGTGCCCGGCCTGAAGTGTATCTTAATAAAATGGCAAAAAATACATATATAAAACTCCACATGAAATTGGCCAACGGTCTTTGATCTGAATAGGTCTGTGTTCCTTGGAGGAAAGTGTAGATTAAGAGATCTTCACAGTTCTACCTGATCTGCTACTGCTTACCTTTGAGTGTTTTTCAAAATGAGGCAAGGACCTGTTTTCAAAGCCGTCTGGCACTCGAGAGCCACTGATGGCCTGCTGTCCCACACAGGCAATCATCTGTGATATGTTAATGAAGGAACCTGGGGACATGGACCAGAAATGTAACATTCATTTACCAAAATAACACTAATTGAAGTGCATGCAGATTGGAAGGGTAAAACAGGAATAGGCCCTTATGCTCAATGAGGTCATGGTCCTGGAACAGTAGAAGACAGAAATACAATCAAGACAACAAGGAGCTGTCAGGAACCCAAGAAAGGCGGAACGACGGCGAGAGGAGCCAGGAGCATGTGTGGGTTGGAGGAAAGGCTGGGGAAGTGACAGGTGAGTCTTCAAGGAGGCTTCAGCAAGTCCAGGTTGGACTCCTGGAGGACATTATGATTTGGACATAAAGGGAGAGGGGGAGGAATTCCAAAGTGGGTGGGAAAGTAGGAAGCAAAGACAGAGAAATGGAAAAGTGTGGGCTATGTCCTGAGGGTAGGAAGCAGGAGAGCAATGGGGTAAAAGGCAGCAAAGTTAAAGAGACTGGACTTTATCCTGTTTAAAAAAAAAGTGTACAGAAATAGAAGCACAGAGGTTTTGAATTTGAATGCATTATCATAAAACCAAATGCTTTGAGGGCCTCGGTATCTACAAAATAGAAGAATTATGCCACATCATTAAGTACATTAAAAAATCCCTGGCTTTCTTCTGCTTCAACCTGCCTGACCTGCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGATTAGCTGGGACGACAGGCACAAGCCACCACGCCCAGCTAATTTTTTTTTTTTTGTATTTTTTGTAGAGATGGGGTTTTGGCATATTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCAATCAATCGGCCTCGGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCTGGCCTCATTTTTTTTTAAAGACCACGTTGCTCAAAGCACCCTCAAACTCAGAATCCAGACACATTACCAACAAGTTCCTTCAAAGCAGTTAAACTTCCCAAAATGCAAATAATTAAGTCTCTCTCTCTGATTTAAAAAGATCCCTTAAATAAATGAAATGTCTGTTTGGAGCTGTGACTATCACATTTTCTGGAGCCAAACAGCCTGTACGGAGAACACACTGCCAGCAGGTGAGAGAGGGGCATGCAGACCTTTGGAGCCGCACAGAGCCATGGTGAGGGGGCTCTTGCTCTTGTCCAGCTCCCGGAGGCAGGCACTGCCAGCGTGGTCACGGATCACAGACAGCTCCTTCAGGATCAGTGCCTAGTGGGAGAAAAGGAGATCCTTGGTGGGTTGTCCTCATTGTCTCTGTGGATTACAAATGTTCAATCTAACATTTAAAGAAATTTGAAAATACTGAGGCAAGATGCCCGATTTCCGATCAGTAAATGTTTCAGAACCTTAGAGGAGCAAAATGCCCTGGCTATATGAACATGTACATCTTCTACAAGGTTCTAAAATTGGTGTATAAGGCAAACAGTTTATCTTTTTTTTGTTTTTGTTGGAGACAGGATCTCACTCTGTTGCTGAGGTTGGTGTACAATGGCATAATCACAGCTCACTGCAGCCTCAAACTCCCGGGCTCAAGTGATCCTCCTGCCCCAGACCCCTGAGTAGCTAGGACTACAGGTATATGTCCCTACCAGGCCTGGCTAATTTTTAAAATTTTTTTTGTAGAGATGGGGTCTTGCTATACTGCCCAGGTTGGACTTGAACTCCTGGCCTCAAGGGATCTTCCTGCCTTGATTATAGGCATAAGCCACCAAGCCTGGCCTAAAATTGACAGTAATAAAAACTTGAAGAATCCTTTAAATGGCCCATAAGGTAGAATGTATGGCTTTGTGTATACTACCCTACACAACAAAATATCTGTATATAAATAGCTGTGTGGACACACACATGCACCCCATACAAATATATAAGATAATATGTGGTATGTAAAAGAGAATTGCCTGTACTATTTGTAAATTTGTCTTTCTACTTTTTCTTGCCAAGCACACATCTGAATGTCTGCAAGCTAGGCATGTGATGAGGTGACTTCACAAGAATATTCCGGCTCATGAGCTCATCCACAGTTACTCCTCAACTTACAAACTAGGATGCTGAATCAGTTACAAGTCTGGTTCCATGAAAAATTGCTGCTGCCGAGGTCTCAAGTAATTTTCTAGGAGGTACCGGTGAGGGATATCCTTTTCTCTCTCTCTAAGACTCAGTAAGATTAAGAATGAGCTAATGGTAAATACCTCACAAAATTCTGGTTTCTCCCTGCTTTAGAAAATGTATTTCATTAGAAAACTTCCCAATGCTTAAAGAGCCTTTCTTCCACACTCAGGTGAGTCAAAGCTCAGTGCCACGGGTTTATCGGTGAGGCAGAAGACGGCCAGGTGAAAGCCTGGTGCACTCAGACTGCTGAGGGAGTTTCAGGTTCTCACAGGCTGGTGGTGATTCTGATTCTGACCCATGCTGGTTGAGATCTTAGCTAAAATAGTTTCAAATGAGGGGCAGCAGGCTGGGGATGTGACTATTAGACATGAATTCTCCCTCTTCCGCATCCAAGTCTCTTTCAAAGACCATACATTCAAAGAGCTGTGGTGAGGCTGGGCACGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAAGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGGCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATGCAAAAAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTTAGGATGTTGAGGCAGGGATAATTGCTTGCACCCAGGAGGTAGAGGTTGCAGTGAGATGAGATTGCACCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCCATCTTAAAACAAAACAACAACAAAAAAACTGGCTGGGCGTAGTGGCTTACACCTGTAATCCCAGTACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCGTGCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGAGGGTGAGGCAGGAGAATTGCTTGAACCAGGGAGTCAGACGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCAGCCTGGCTGGAGTGCTTCATAAAACTATGAAAAGCGAGACTCCGTCTCAAACAAAAACAAAAACAAAAAAAACC
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Task1_train_14088
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A variant on Chromosome 10 in gene POLR3A (RNA polymerase III subunit A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; POLR-related leukodystrophy
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GGCTCCAGGCCCTTATTCCTGTAGGAGATGGGAGTTCGCTCCCAGCGAAATGGAATCAGAGAGGCTCTGGGTCTGGGAATACCAGGCAGATGAAATAACTGTAAACAAGAGCACTGAGGGAAAGTCTGTATATTCCTTTTATATAAAAAAACTGAGAGGTCCATCAACCAGTCAGCTCCATTTCCAATCAGTGTTTCAGTCCTTACTCCTCAAGGACCACCAGATATTTGAGGAAAGATTTTAACATGAAAGACAAAAGACACAAATGCACAGGAAAAAGAAAGTAAAAGGATACAGAAAATTCAGGAAGCAAATATAATAAAACTATGAATAATATTCTCTCAGAGTGATCAGAGAAGATACATTCAGGGATCAAAACAAGAAAGCTTTAAAAACAAAACAGCCTGGGCATAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCACCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGTTACTCGGGAGGCTGTGGCAGGAGAATCACTTGAGCCTGGGAGGCGGAGGTTGCAGCGAGCTGAGATTGCATCACTGCACTCCAGCCTGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACAAAAACACTACCTGTGAATAAGTATATTGAAAAATAGTATTGGAAATTAAATACATGACAGTGATAAAATTTTAAAAATCAACAGAAGTATTAAAAGATAAAGTGAATCTAGAATAAAGAAATGGCAAATGGAAAAGAAGATAATTAGATAATTAATCTAGGAGTTCTAATATGTAATTAACTGAAGTTCCAAAAAGAAAGAACAGAGAAAGTAAAAGAGAGAAAATTATTAAAGAAATAACATAAAATTTCCCGAATGGAAGGACACACAGCTGCAGATTAAATGAAATTACTCAGTGCTTAGCACAGTGAATGAAAAAAGACCCACACCAAAGGTATATTGTTGTGAACTTTCACAGTGAGAACAGAGAGGATTCTGAAAGTTTCTAAAATGAAAAAAACAATTCAAGGGCCAGGCATGGTAGCTAATGCCTGTAATCCTAGCACTTTGGGAGGTGGAGGCAGGTGGATCACTTGAGACCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAGACTTCATTTCTACAAAACTTAGTTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTGCTCGAGAGGCTGCGTGAGCCAAGATCACACCACTGCACTACAGCCTGGGTGACAGAGCAAGACCCTATCTTCAAAAAACAAAAAAAAATCAAATACAAAAACTGGGGAATAAGAACGACAATACCTGTTAACAACAACTCTGAAAGCAAGAAGAAAGTAGAGCAGTACCTTCAAAATTCTGAGGGAAAATAATTTTCAATCTAAAATTGTATACCCAGGCAAGTATAAGAGTGGAATAAAGTTTTGGGGGCATGCAAACATCACTTGACTCATGGCCCACTCAAAGCATGAGCAAACAAACAAACAAACAAAATAGAACAGTGAAAGCATAGTAGGCAAATATTGAGTAATCTTGGAGAACTGAATCATGGATAGCCCCAAGTGTTCTAGTGCTTCCACAGGGACCTTGGAAGCAGCCCATCAAGGATGGTTTATAATCTAACCCTGTCTAGAAGACCGTAGGGAGCTACTGCTGGTTTTGAGAAGAGAACTGAAAAGCAAATTCAAATCTGTTGTGAAACTATTCAGTACTGAGTTAATTTAATTAATAACAGCACACATGATTTAGCCTGGAATGAGTATCTTTTTCTGTATGTATATGTGTGGTGGGGATGAAATGGCAGTAAAAGAACAAAATAACGTAAACCCTTAAGACTCTAACAATTGCAGCTTTAACTAAAAGAAGGATGCTGAGATACTTACACAGGTAGACAGGAGCCAGCCTGGCGAGCCGTGACATGGCATCTGCAGCTTCATTCTGTCCCCAGTCTCGCAGCAAAATGTAAAAAATATTGTTCTTGGATCCTGACCCTAGGGTTCCTTTGTCCATGCTGCCACTCATCAACTCACTGTTCTGGATTGTAACATCTGGAAGAATGATTATATATTTAGACAACAATTATTTATTACTTTGCCTTATTCCAAAATGAATTTGAGACAGTTGAGAAAATATGTTCCCATACTGACACTTAAAGCAGAACAAACAGAAATTCTCCTCAAAGCTTTTTTTTGGGGGGAGGGAGGGGGGGTTAAAGGAAAACTTGGGAATTTTTGAAAAATATAGAAACTCCAGTTAGTGTGTAGTCCTAACCCTGAAATATACCAGTTGACCCTCACTCTCCTCATCTGTGAACTGTGGGTAACAGTATCAAGCACTTGTCATCTTTATGTTATGGGATATTTTGAGCATCAGATGAAATAACATACAGTGAAGTGCTCTATAAACTATAAATAATTTGTTACTCATATAAGATATTAAATATTAACAAAGGTACCATCATGTACAGCCTATACAACAACCAAATGAAATTCATATCCAAAAAGAAACAAAACAGTCTAAAACAAGAAGCTGAAGTATTTTGAAGATCAGAGAGCATATTTCCAAAGAAATAAATCTGAGGAGTATCAGTGCCCTTCAAAACATTTGCTCTTCATTAGAAGACAGCAGAAATCCTGACCTTCAGAAGAACTCTGCAATTCAGTTCTTCAGTACAGAGTCCTGGAGATCCACTTCTAGTCCCAAGGTCTCACTAGCAAAGCCCATTCTAAATCAGTGCTACTCAAACTAGGCTGCTAGGGAACTGTTTGGTAGTGGTCTGGGTGAGTGAACGTGCTCACATCAGAAAGTAACTCAATGGATGCTGGCTAAACAGCAGGGCTCTGTGGACTGCACTTCGGGTTGAACTGGTTTAGACAGACTCAGATGACTTGCATGTAAATCCTTTCCCTGGCTGGGTGAGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGATGAGGTGGGACGATTGCTTGAGCCTAGGAGTTCGAGACCAGCCTGGGCAACGTAGGGAGAACCTGTTTGTCTTTGAAAAAAAAAAAAAAAAATCAATCCAGGCTGGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGGCAAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCCAGGCATGGTGGTGGGCGCCTGTAATCCAAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGTAGGTGGAAGTTGCAGTCAGCTGAGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTTAGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTAAATGCCTTAAATAGTAAAATCCTTGTTTATTGCCCCCCCCGCCGCCAAAAAGATGACAAAATACAGACAAACTACTAAGTGAGAAAAACTAGTCACTTAAGACAAAACACATTTGGAGAGAACATTCTAACCACTGCGTCATGTGTCTACATGATCTCTACTTTTAAGAGAAATGGGGAATTACATCTGAGAGAAGAAAAACCAGCTACATTTTCCTGAAGAAAAAACTTTCCACCTAAGGCTTACAGAAACAATGAATTTGCTTGCTTCGCGAAGGTACCAGCAAAGCTGATGACCAGCCACTTGCTTTTCTGTCACGTTCCTCCTTCTCCCCACCCGAGTTCCGTCCACTCACAGGAATCATTGGCACAGAGATCTTCCCCTTTGCCACAGTACTGCTTGCCCTTGGTTCGCAGGTTGGCCCTCACTGGATTGTCATCGCTAGGCCTGAGGATGACACTGAAGATCTGCTTTCCCGTCCACAGGGTGACAGGCTGAGGGGGGGAGGAAGCCTGAGAGTCAGTGGGCTGAGCCTGGTCTCAATCCCCCTTCAGTAGACGAAGCCAGGCGGCCTAGGGACTGCACTCAAGCCTAGCACCAACACGGTTCCACTCATTTCACCAGTCT
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GGCTCCAGGCCCTTATTCCTGTAGGAGATGGGAGTTCGCTCCCAGCGAAATGGAATCAGAGAGGCTCTGGGTCTGGGAATACCAGGCAGATGAAATAACTGTAAACAAGAGCACTGAGGGAAAGTCTGTATATTCCTTTTATATAAAAAAACTGAGAGGTCCATCAACCAGTCAGCTCCATTTCCAATCAGTGTTTCAGTCCTTACTCCTCAAGGACCACCAGATATTTGAGGAAAGATTTTAACATGAAAGACAAAAGACACAAATGCACAGGAAAAAGAAAGTAAAAGGATACAGAAAATTCAGGAAGCAAATATAATAAAACTATGAATAATATTCTCTCAGAGTGATCAGAGAAGATACATTCAGGGATCAAAACAAGAAAGCTTTAAAAACAAAACAGCCTGGGCATAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCACCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGTTACTCGGGAGGCTGTGGCAGGAGAATCACTTGAGCCTGGGAGGCGGAGGTTGCAGCGAGCTGAGATTGCATCACTGCACTCCAGCCTGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACAAAAACACTACCTGTGAATAAGTATATTGAAAAATAGTATTGGAAATTAAATACATGACAGTGATAAAATTTTAAAAATCAACAGAAGTATTAAAAGATAAAGTGAATCTAGAATAAAGAAATGGCAAATGGAAAAGAAGATAATTAGATAATTAATCTAGGAGTTCTAATATGTAATTAACTGAAGTTCCAAAAAGAAAGAACAGAGAAAGTAAAAGAGAGAAAATTATTAAAGAAATAACATAAAATTTCCCGAATGGAAGGACACACAGCTGCAGATTAAATGAAATTACTCAGTGCTTAGCACAGTGAATGAAAAAAGACCCACACCAAAGGTATATTGTTGTGAACTTTCACAGTGAGAACAGAGAGGATTCTGAAAGTTTCTAAAATGAAAAAAACAATTCAAGGGCCAGGCATGGTAGCTAATGCCTGTAATCCTAGCACTTTGGGAGGTGGAGGCAGGTGGATCACTTGAGACCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAGACTTCATTTCTACAAAACTTAGTTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTGCTCGAGAGGCTGCGTGAGCCAAGATCACACCACTGCACTACAGCCTGGGTGACAGAGCAAGACCCTATCTTCAAAAAACAAAAAAAAATCAAATACAAAAACTGGGGAATAAGAACGACAATACCTGTTAACAACAACTCTGAAAGCAAGAAGAAAGTAGAGCAGTACCTTCAAAATTCTGAGGGAAAATAATTTTCAATCTAAAATTGTATACCCAGGCAAGTATAAGAGTGGAATAAAGTTTTGGGGGCATGCAAACATCACTTGACTCATGGCCCACTCAAAGCATGAGCAAACAAACAAACAAACAAAATAGAACAGTGAAAGCATAGTAGGCAAATATTGAGTAATCTTGGAGAACTGAATCATGGATAGCCCCAAGTGTTCTAGTGCTTCCACAGGGACCTTGGAAGCAGCCCATCAAGGATGGTTTATAATCTAACCCTGTCTAGAAGACCGTAGGGAGCTACTGCTGGTTTTGAGAAGAGAACTGAAAAGCAAATTCAAATCTGTTGTGAAACTATTCAGTACTGAGTTAATTTAATTAATAACAGCACACATGATTTAGCCTGGAATGAGTATCTTTTTCTGTATGTATATGTGTGGTGGGGATGAAATGGCAGTAAAAGAACAAAATAACGTAAACCCTTAAGACTCTAACAATTGCAGCTTTAACTAAAAGAAGGATGCTGAGATACTTACACAGGTAGACAGGAGCCAGCCTGGCGAGCCGTGACATGGCATCTGCAGCTTCATTCTGTTCCCAGTCTCGCAGCAAAATGTAAAAAATATTGTTCTTGGATCCTGACCCTAGGGTTCCTTTGTCCATGCTGCCACTCATCAACTCACTGTTCTGGATTGTAACATCTGGAAGAATGATTATATATTTAGACAACAATTATTTATTACTTTGCCTTATTCCAAAATGAATTTGAGACAGTTGAGAAAATATGTTCCCATACTGACACTTAAAGCAGAACAAACAGAAATTCTCCTCAAAGCTTTTTTTTGGGGGGAGGGAGGGGGGGTTAAAGGAAAACTTGGGAATTTTTGAAAAATATAGAAACTCCAGTTAGTGTGTAGTCCTAACCCTGAAATATACCAGTTGACCCTCACTCTCCTCATCTGTGAACTGTGGGTAACAGTATCAAGCACTTGTCATCTTTATGTTATGGGATATTTTGAGCATCAGATGAAATAACATACAGTGAAGTGCTCTATAAACTATAAATAATTTGTTACTCATATAAGATATTAAATATTAACAAAGGTACCATCATGTACAGCCTATACAACAACCAAATGAAATTCATATCCAAAAAGAAACAAAACAGTCTAAAACAAGAAGCTGAAGTATTTTGAAGATCAGAGAGCATATTTCCAAAGAAATAAATCTGAGGAGTATCAGTGCCCTTCAAAACATTTGCTCTTCATTAGAAGACAGCAGAAATCCTGACCTTCAGAAGAACTCTGCAATTCAGTTCTTCAGTACAGAGTCCTGGAGATCCACTTCTAGTCCCAAGGTCTCACTAGCAAAGCCCATTCTAAATCAGTGCTACTCAAACTAGGCTGCTAGGGAACTGTTTGGTAGTGGTCTGGGTGAGTGAACGTGCTCACATCAGAAAGTAACTCAATGGATGCTGGCTAAACAGCAGGGCTCTGTGGACTGCACTTCGGGTTGAACTGGTTTAGACAGACTCAGATGACTTGCATGTAAATCCTTTCCCTGGCTGGGTGAGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGATGAGGTGGGACGATTGCTTGAGCCTAGGAGTTCGAGACCAGCCTGGGCAACGTAGGGAGAACCTGTTTGTCTTTGAAAAAAAAAAAAAAAAATCAATCCAGGCTGGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGGCAAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCCAGGCATGGTGGTGGGCGCCTGTAATCCAAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGTAGGTGGAAGTTGCAGTCAGCTGAGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTTAGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTAAATGCCTTAAATAGTAAAATCCTTGTTTATTGCCCCCCCCGCCGCCAAAAAGATGACAAAATACAGACAAACTACTAAGTGAGAAAAACTAGTCACTTAAGACAAAACACATTTGGAGAGAACATTCTAACCACTGCGTCATGTGTCTACATGATCTCTACTTTTAAGAGAAATGGGGAATTACATCTGAGAGAAGAAAAACCAGCTACATTTTCCTGAAGAAAAAACTTTCCACCTAAGGCTTACAGAAACAATGAATTTGCTTGCTTCGCGAAGGTACCAGCAAAGCTGATGACCAGCCACTTGCTTTTCTGTCACGTTCCTCCTTCTCCCCACCCGAGTTCCGTCCACTCACAGGAATCATTGGCACAGAGATCTTCCCCTTTGCCACAGTACTGCTTGCCCTTGGTTCGCAGGTTGGCCCTCACTGGATTGTCATCGCTAGGCCTGAGGATGACACTGAAGATCTGCTTTCCCGTCCACAGGGTGACAGGCTGAGGGGGGGAGGAAGCCTGAGAGTCAGTGGGCTGAGCCTGGTCTCAATCCCCCTTCAGTAGACGAAGCCAGGCGGCCTAGGGACTGCACTCAAGCCTAGCACCAACACGGTTCCACTCATTTCACCAGTCT
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Task1_train_14089
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With a mutation on Chromosome 10 in gene POLR3A (RNA polymerase III subunit A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
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GGCTCCAGGCCCTTATTCCTGTAGGAGATGGGAGTTCGCTCCCAGCGAAATGGAATCAGAGAGGCTCTGGGTCTGGGAATACCAGGCAGATGAAATAACTGTAAACAAGAGCACTGAGGGAAAGTCTGTATATTCCTTTTATATAAAAAAACTGAGAGGTCCATCAACCAGTCAGCTCCATTTCCAATCAGTGTTTCAGTCCTTACTCCTCAAGGACCACCAGATATTTGAGGAAAGATTTTAACATGAAAGACAAAAGACACAAATGCACAGGAAAAAGAAAGTAAAAGGATACAGAAAATTCAGGAAGCAAATATAATAAAACTATGAATAATATTCTCTCAGAGTGATCAGAGAAGATACATTCAGGGATCAAAACAAGAAAGCTTTAAAAACAAAACAGCCTGGGCATAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCACCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGTTACTCGGGAGGCTGTGGCAGGAGAATCACTTGAGCCTGGGAGGCGGAGGTTGCAGCGAGCTGAGATTGCATCACTGCACTCCAGCCTGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACAAAAACACTACCTGTGAATAAGTATATTGAAAAATAGTATTGGAAATTAAATACATGACAGTGATAAAATTTTAAAAATCAACAGAAGTATTAAAAGATAAAGTGAATCTAGAATAAAGAAATGGCAAATGGAAAAGAAGATAATTAGATAATTAATCTAGGAGTTCTAATATGTAATTAACTGAAGTTCCAAAAAGAAAGAACAGAGAAAGTAAAAGAGAGAAAATTATTAAAGAAATAACATAAAATTTCCCGAATGGAAGGACACACAGCTGCAGATTAAATGAAATTACTCAGTGCTTAGCACAGTGAATGAAAAAAGACCCACACCAAAGGTATATTGTTGTGAACTTTCACAGTGAGAACAGAGAGGATTCTGAAAGTTTCTAAAATGAAAAAAACAATTCAAGGGCCAGGCATGGTAGCTAATGCCTGTAATCCTAGCACTTTGGGAGGTGGAGGCAGGTGGATCACTTGAGACCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAGACTTCATTTCTACAAAACTTAGTTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTGCTCGAGAGGCTGCGTGAGCCAAGATCACACCACTGCACTACAGCCTGGGTGACAGAGCAAGACCCTATCTTCAAAAAACAAAAAAAAATCAAATACAAAAACTGGGGAATAAGAACGACAATACCTGTTAACAACAACTCTGAAAGCAAGAAGAAAGTAGAGCAGTACCTTCAAAATTCTGAGGGAAAATAATTTTCAATCTAAAATTGTATACCCAGGCAAGTATAAGAGTGGAATAAAGTTTTGGGGGCATGCAAACATCACTTGACTCATGGCCCACTCAAAGCATGAGCAAACAAACAAACAAACAAAATAGAACAGTGAAAGCATAGTAGGCAAATATTGAGTAATCTTGGAGAACTGAATCATGGATAGCCCCAAGTGTTCTAGTGCTTCCACAGGGACCTTGGAAGCAGCCCATCAAGGATGGTTTATAATCTAACCCTGTCTAGAAGACCGTAGGGAGCTACTGCTGGTTTTGAGAAGAGAACTGAAAAGCAAATTCAAATCTGTTGTGAAACTATTCAGTACTGAGTTAATTTAATTAATAACAGCACACATGATTTAGCCTGGAATGAGTATCTTTTTCTGTATGTATATGTGTGGTGGGGATGAAATGGCAGTAAAAGAACAAAATAACGTAAACCCTTAAGACTCTAACAATTGCAGCTTTAACTAAAAGAAGGATGCTGAGATACTTACACAGGTAGACAGGAGCCAGCCTGGCGAGCCGTGACATGGCATCTGCAGCTTCATTCTGTCCCCAGTCTCGCAGCAAAATGTAAAAAATATTGTTCTTGGATCCTGACCCTAGGGTTCCTTTGTCCATGCTGCCACTCATCAACTCACTGTTCTGGATTGTAACATCTGGAAGAATGATTATATATTTAGACAACAATTATTTATTACTTTGCCTTATTCCAAAATGAATTTGAGACAGTTGAGAAAATATGTTCCCATACTGACACTTAAAGCAGAACAAACAGAAATTCTCCTCAAAGCTTTTTTTTGGGGGGAGGGAGGGGGGGTTAAAGGAAAACTTGGGAATTTTTGAAAAATATAGAAACTCCAGTTAGTGTGTAGTCCTAACCCTGAAATATACCAGTTGACCCTCACTCTCCTCATCTGTGAACTGTGGGTAACAGTATCAAGCACTTGTCATCTTTATGTTATGGGATATTTTGAGCATCAGATGAAATAACATACAGTGAAGTGCTCTATAAACTATAAATAATTTGTTACTCATATAAGATATTAAATATTAACAAAGGTACCATCATGTACAGCCTATACAACAACCAAATGAAATTCATATCCAAAAAGAAACAAAACAGTCTAAAACAAGAAGCTGAAGTATTTTGAAGATCAGAGAGCATATTTCCAAAGAAATAAATCTGAGGAGTATCAGTGCCCTTCAAAACATTTGCTCTTCATTAGAAGACAGCAGAAATCCTGACCTTCAGAAGAACTCTGCAATTCAGTTCTTCAGTACAGAGTCCTGGAGATCCACTTCTAGTCCCAAGGTCTCACTAGCAAAGCCCATTCTAAATCAGTGCTACTCAAACTAGGCTGCTAGGGAACTGTTTGGTAGTGGTCTGGGTGAGTGAACGTGCTCACATCAGAAAGTAACTCAATGGATGCTGGCTAAACAGCAGGGCTCTGTGGACTGCACTTCGGGTTGAACTGGTTTAGACAGACTCAGATGACTTGCATGTAAATCCTTTCCCTGGCTGGGTGAGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGATGAGGTGGGACGATTGCTTGAGCCTAGGAGTTCGAGACCAGCCTGGGCAACGTAGGGAGAACCTGTTTGTCTTTGAAAAAAAAAAAAAAAAATCAATCCAGGCTGGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGGCAAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCCAGGCATGGTGGTGGGCGCCTGTAATCCAAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGTAGGTGGAAGTTGCAGTCAGCTGAGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTTAGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTAAATGCCTTAAATAGTAAAATCCTTGTTTATTGCCCCCCCCGCCGCCAAAAAGATGACAAAATACAGACAAACTACTAAGTGAGAAAAACTAGTCACTTAAGACAAAACACATTTGGAGAGAACATTCTAACCACTGCGTCATGTGTCTACATGATCTCTACTTTTAAGAGAAATGGGGAATTACATCTGAGAGAAGAAAAACCAGCTACATTTTCCTGAAGAAAAAACTTTCCACCTAAGGCTTACAGAAACAATGAATTTGCTTGCTTCGCGAAGGTACCAGCAAAGCTGATGACCAGCCACTTGCTTTTCTGTCACGTTCCTCCTTCTCCCCACCCGAGTTCCGTCCACTCACAGGAATCATTGGCACAGAGATCTTCCCCTTTGCCACAGTACTGCTTGCCCTTGGTTCGCAGGTTGGCCCTCACTGGATTGTCATCGCTAGGCCTGAGGATGACACTGAAGATCTGCTTTCCCGTCCACAGGGTGACAGGCTGAGGGGGGGAGGAAGCCTGAGAGTCAGTGGGCTGAGCCTGGTCTCAATCCCCCTTCAGTAGACGAAGCCAGGCGGCCTAGGGACTGCACTCAAGCCTAGCACCAACACGGTTCCACTCATTTCACCAGTCT
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GGCTCCAGGCCCTTATTCCTGTAGGAGATGGGAGTTCGCTCCCAGCGAAATGGAATCAGAGAGGCTCTGGGTCTGGGAATACCAGGCAGATGAAATAACTGTAAACAAGAGCACTGAGGGAAAGTCTGTATATTCCTTTTATATAAAAAAACTGAGAGGTCCATCAACCAGTCAGCTCCATTTCCAATCAGTGTTTCAGTCCTTACTCCTCAAGGACCACCAGATATTTGAGGAAAGATTTTAACATGAAAGACAAAAGACACAAATGCACAGGAAAAAGAAAGTAAAAGGATACAGAAAATTCAGGAAGCAAATATAATAAAACTATGAATAATATTCTCTCAGAGTGATCAGAGAAGATACATTCAGGGATCAAAACAAGAAAGCTTTAAAAACAAAACAGCCTGGGCATAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCACCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGTTACTCGGGAGGCTGTGGCAGGAGAATCACTTGAGCCTGGGAGGCGGAGGTTGCAGCGAGCTGAGATTGCATCACTGCACTCCAGCCTGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACAAAAACACTACCTGTGAATAAGTATATTGAAAAATAGTATTGGAAATTAAATACATGACAGTGATAAAATTTTAAAAATCAACAGAAGTATTAAAAGATAAAGTGAATCTAGAATAAAGAAATGGCAAATGGAAAAGAAGATAATTAGATAATTAATCTAGGAGTTCTAATATGTAATTAACTGAAGTTCCAAAAAGAAAGAACAGAGAAAGTAAAAGAGAGAAAATTATTAAAGAAATAACATAAAATTTCCCGAATGGAAGGACACACAGCTGCAGATTAAATGAAATTACTCAGTGCTTAGCACAGTGAATGAAAAAAGACCCACACCAAAGGTATATTGTTGTGAACTTTCACAGTGAGAACAGAGAGGATTCTGAAAGTTTCTAAAATGAAAAAAACAATTCAAGGGCCAGGCATGGTAGCTAATGCCTGTAATCCTAGCACTTTGGGAGGTGGAGGCAGGTGGATCACTTGAGACCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAGACTTCATTTCTACAAAACTTAGTTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTGCTCGAGAGGCTGCGTGAGCCAAGATCACACCACTGCACTACAGCCTGGGTGACAGAGCAAGACCCTATCTTCAAAAAACAAAAAAAAATCAAATACAAAAACTGGGGAATAAGAACGACAATACCTGTTAACAACAACTCTGAAAGCAAGAAGAAAGTAGAGCAGTACCTTCAAAATTCTGAGGGAAAATAATTTTCAATCTAAAATTGTATACCCAGGCAAGTATAAGAGTGGAATAAAGTTTTGGGGGCATGCAAACATCACTTGACTCATGGCCCACTCAAAGCATGAGCAAACAAACAAACAAACAAAATAGAACAGTGAAAGCATAGTAGGCAAATATTGAGTAATCTTGGAGAACTGAATCATGGATAGCCCCAAGTGTTCTAGTGCTTCCACAGGGACCTTGGAAGCAGCCCATCAAGGATGGTTTATAATCTAACCCTGTCTAGAAGACCGTAGGGAGCTACTGCTGGTTTTGAGAAGAGAACTGAAAAGCAAATTCAAATCTGTTGTGAAACTATTCAGTACTGAGTTAATTTAATTAATAACAGCACACATGATTTAGCCTGGAATGAGTATCTTTTTCTGTATGTATATGTGTGGTGGGGATGAAATGGCAGTAAAAGAACAAAATAACGTAAACCCTTAAGACTCTAACAATTGCAGCTTTAACTAAAAGAAGGATGCTGAGATACTTACACAGGTAGACAGGAGCCAGCCTGGCGAGCCGTGACATGGCATCTGCAGCTTCATTCTGTTCCCAGTCTCGCAGCAAAATGTAAAAAATATTGTTCTTGGATCCTGACCCTAGGGTTCCTTTGTCCATGCTGCCACTCATCAACTCACTGTTCTGGATTGTAACATCTGGAAGAATGATTATATATTTAGACAACAATTATTTATTACTTTGCCTTATTCCAAAATGAATTTGAGACAGTTGAGAAAATATGTTCCCATACTGACACTTAAAGCAGAACAAACAGAAATTCTCCTCAAAGCTTTTTTTTGGGGGGAGGGAGGGGGGGTTAAAGGAAAACTTGGGAATTTTTGAAAAATATAGAAACTCCAGTTAGTGTGTAGTCCTAACCCTGAAATATACCAGTTGACCCTCACTCTCCTCATCTGTGAACTGTGGGTAACAGTATCAAGCACTTGTCATCTTTATGTTATGGGATATTTTGAGCATCAGATGAAATAACATACAGTGAAGTGCTCTATAAACTATAAATAATTTGTTACTCATATAAGATATTAAATATTAACAAAGGTACCATCATGTACAGCCTATACAACAACCAAATGAAATTCATATCCAAAAAGAAACAAAACAGTCTAAAACAAGAAGCTGAAGTATTTTGAAGATCAGAGAGCATATTTCCAAAGAAATAAATCTGAGGAGTATCAGTGCCCTTCAAAACATTTGCTCTTCATTAGAAGACAGCAGAAATCCTGACCTTCAGAAGAACTCTGCAATTCAGTTCTTCAGTACAGAGTCCTGGAGATCCACTTCTAGTCCCAAGGTCTCACTAGCAAAGCCCATTCTAAATCAGTGCTACTCAAACTAGGCTGCTAGGGAACTGTTTGGTAGTGGTCTGGGTGAGTGAACGTGCTCACATCAGAAAGTAACTCAATGGATGCTGGCTAAACAGCAGGGCTCTGTGGACTGCACTTCGGGTTGAACTGGTTTAGACAGACTCAGATGACTTGCATGTAAATCCTTTCCCTGGCTGGGTGAGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGATGAGGTGGGACGATTGCTTGAGCCTAGGAGTTCGAGACCAGCCTGGGCAACGTAGGGAGAACCTGTTTGTCTTTGAAAAAAAAAAAAAAAAATCAATCCAGGCTGGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGGCAAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCCAGGCATGGTGGTGGGCGCCTGTAATCCAAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGTAGGTGGAAGTTGCAGTCAGCTGAGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTTAGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTAAATGCCTTAAATAGTAAAATCCTTGTTTATTGCCCCCCCCGCCGCCAAAAAGATGACAAAATACAGACAAACTACTAAGTGAGAAAAACTAGTCACTTAAGACAAAACACATTTGGAGAGAACATTCTAACCACTGCGTCATGTGTCTACATGATCTCTACTTTTAAGAGAAATGGGGAATTACATCTGAGAGAAGAAAAACCAGCTACATTTTCCTGAAGAAAAAACTTTCCACCTAAGGCTTACAGAAACAATGAATTTGCTTGCTTCGCGAAGGTACCAGCAAAGCTGATGACCAGCCACTTGCTTTTCTGTCACGTTCCTCCTTCTCCCCACCCGAGTTCCGTCCACTCACAGGAATCATTGGCACAGAGATCTTCCCCTTTGCCACAGTACTGCTTGCCCTTGGTTCGCAGGTTGGCCCTCACTGGATTGTCATCGCTAGGCCTGAGGATGACACTGAAGATCTGCTTTCCCGTCCACAGGGTGACAGGCTGAGGGGGGGAGGAAGCCTGAGAGTCAGTGGGCTGAGCCTGGTCTCAATCCCCCTTCAGTAGACGAAGCCAGGCGGCCTAGGGACTGCACTCAAGCCTAGCACCAACACGGTTCCACTCATTTCACCAGTCT
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Task1_train_14090
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A genetic alteration is present in LOC130004144, RPS24 (ATAC-STARR-seq lymphoblastoid active region 3613| ribosomal protein S24) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Diamond-Blackfan anemia
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GGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCGGCTGACTATTTTCTTAAGAATAAGGATAGTTGGTCACCTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACTTGGGAGGCGGATGTTGCAGTGACCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATGCGGTCTCAAAAAAAAAAAAAAAAACAAAAAACGAAAAAAAAGAAAAATAGTCGGCCGGGGACGGTGGCTCACGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCGGGGGCGGATCACTTGCGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTCCTAAAAATACAAAAATTAGCTGGGCATTGTGGCGCAGGCCTGTAATTTTAGTTACTCTGGAAGCTGAGCCAGGAGAATCGCTTGAATCCGGGAGGTCGAGGTTGCAGTGAGCCGCGATGAAGCCATTGCTCTCCAACCTGGGTGACAAGAGCTAGACTCTGTCTCAGGAAAAAAAAAAAAAGAAAATAGGAAAGCTGCCCGCAAAGCCTGCACCTTGGACACCTCGTCTGCACTAACATTTGGGAAATTCTTCTTATTATTTCTCCGGAACATATATATTTACATTCTTTACATGTCTGTTTCACGTTAAAGAAAATATTTCTGGAGCAATCAATTTTTTTTTCCTTTTTTTTTTTTTTTTTCTGAGACGGAGTTTCGCTCTTATTGCCCAGGCGGAGTGCAATGGTGCGATCTCGGCCCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGATAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCCAATTTTTTTTTTTTTGTAGTAGAGACGGGGTTTCGCCATTTTGCCCAGGCTGGTATCGAACTTCTGACCTCAGGTCATCTACCTGCTTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACTGCCCCTGGCTTCCAATTTTTTTTTCCTTTTTTTTCTTTTCTTTTTTTTTTTTTTCTGAGACGGATTTTCGCTCCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCCCACTGCAACCTTTGCTTCCCGGGTTCTGGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCACGCCCCGCTAATTTTGTATTTTGTATTTATTTATTTATTTATTTTCGTAGATACGTGGTTTCGCCATGTTGGCCAGGCTGGTATCGAACTCCTGACCTCAGGTGATCCGCCCGCCTTGCCCTCCCAAAGTGCTGGGATTACAGGCGTGGCCATCGCGCCCGGCCAAATATTTTTCAAAATCTAATTTTGCATAATGACCAAGATTTGCAGAAAAATACAAATTAAAGAGATCTTTTAAAGTAAAGATTCGTCATAAAAGTCACAGAAATAATACTCATGAATAATAAATTAGAATGGGCAATGTTAAGTACTTGAAATAACAAAGGTTTTAGAGTCAGGGTTTCTGCAGTTTCCCTAGCCATATAACGAGGAGACTGTTAGAGAGGATATCCTAAAATGCTTTCCAAGTTTACCCACCTCTAACTCGGAAGAAGGCAATTTAAACTAATTTGGTTTACCGGAATTCAAATACGTACAATTCAACATAATGAATTGAACTGAAATTGAACACCTGCTTGCGTAAACCTAGTCGGCTCGAGTTGTTCTGGTTCTGGATTGGTCAGTCTAGAGTTCCAGGGGTGTGGCCAAAAGTCTGTGAGGCGGGGCCGTAGGCAGCCTAAATCAGGCATCGGCGCGGTCAGCCTCGTGGCGCGCCCACGCCCCCACGCCGGCTCTTCCCGGGGTCCTTCCGTGCGCGTTGATATGATTGGCCGGCGAATCGTGGTTCTCTTTTCCTCCTTGGCTGTCTGAAGATAGATCGCCATCATGGTGAGTCTCCCTGGGCCCGTGCAGTCATCTGCCGCGTATCCGAGCCATCCGTGGTCCCTGGGTCCCAGTACTTGAGCTATAGGCACGCGAAGCCCGGTTGCTCTTCTCTGGCCGTTTCTGTCAGAGGATGGTTGTCGAGGGGCTCGGGGCTGTTGGCAGGGCGTCCGGGCTGGCGGGCTGCGCTGTAGACCCGGACACGCTGGGCTTCGGGCTCCAGCGCCTGGGCAGTGCAGGAGCTGTTGCGCTTGTTGACTTCGTGGAGCACGGTGGATGGGGGTAGGGGGCGGGCGGGATAGATGGACACTGGGAGGCACATCTCGTCTGCAGTTCCTCATTGGGCTAGGTAGGCGGCTTGCAGGTGATGGCAGTACAAGAGGTGAAGAAGGTGCGGGCAGCGCCTGGGCGAGTTGCGGCAAGTGAAACCATTCCCACGTGTAAGCTAGAAAACTTGTCAGCTGGATGGATCTTCATGTTTCATAGTGGGGAAACAGGCCCTGGAAAGAGATGTTATAAAAAGGTAGTCCTGCCCTAAGTCATGCGTTATTAGCTCCTCCAGCATCCGTTTTTAACTTTACCAGCAATCTTTTTTTTTTCTCCTTACCTTTGATCCGTTACTTTCAAGAATTGAGTACCACTGACGTGGATTTAATTTGGTGTGGTTTCTCAAAGTAAAATGGAGAAAGTCTAGGAAGTTATTTGCTGCCATGAAAGTCTCTTGCGCCTCCTTTTTGGTAAAATTGTTAGCATAAATTGCTTAATGCCCACATTTTTTGTTAGGTATTAAGTAAAGGTGCAGTTCAGTCCTTCAGAAGGGAATATCGTTTTCTCTGATCTCTGCTATGGCCATTCTAGAAGGATAGATTACATGTAGGTAGTGAGTACAAGGTTTGGGGCACATTTGTGCAAGACATGATAAACACAGTTCATTGAGTGACCTTTATATGAGCCACAGCAGTTTTTACCCCAGAGAAGTGATTCTCAACCCGGAGTGATTTTTCTCCTAAGGGAACAGTTGGCTAAGTCTGGAGACATTTTTGATTGTCACAACTGGGAAAGGTGGGAAGTGCTTCCGGCATCTAGTGGTTAGAGGGCTGGGATTTTTATAGTTATTCTAAAACATACAGTCCCCACAACATATCCATATGGAATTATCCATATGGAAATATCAGTAGTGCTGAGGTTGAGAAACCCTGCCCCAGAGATACACATAACCTAGTGAAGTAAGTTGTACAGATTCATGTGTAAAACCATTGTGTTTTCCTGGTATTTTATGTATTCCTTAGGTGTATCCTGTGAGTTTGGCCTTGCCCAGTGGGTTTTATTTACTTTAGTTCGCTACATGACTAATGGCTACAAATTGGACTGCAACATTCTAGGTCTTGGAAAATCACAGCAAGGCCAAGAAAAGTTGGAGTAGTTTTATTAACCAGAGTGTTTATGTTTTCAGAACGACACCGTAACTATCCGCACTAGAAAGTTCATGACCAACCGACTACTTCAGAGGAAACAAATGGTAAGGAAGGGCACATCAATCTTTGCTTAATTGTCCTTTACTCTAAAGATGTATTTTATCATACTGAATGCTAAACTTGATATCTCCTTTTAGGTCATTGATGTCCTTCACCCCGGGAAGGCGACAGTGCCTAAGACAGAAATTCGGGAAAAACTAGCCAAAATGTACAAGACCACACCGGATGTCATCTTTGTATTTGGATTCAGAACTCATTTTGGTGGTGGCAAGACAACTGGCTTTGGCATGATTTATGATTCCCTGGATTATGCAAAGAAAAATGAACCCAAACATAGACTTGCAAGAGTAGGTGTCTTTTCATTTGTTGATCAGCTCCTGAAGACCTATTTTTTCAATAGCGTTGTGTTGTGAGTGTGGTAAAAAGGGCAAGACCAAGCAATCTGGGATACAACTCTGAAAGGATTAAGAGAAAAAGTTATTTCATAAAATGCACAGGTGGAGTACGGGGGTTCAAAATTGAAGTCTGACATTTGAGCTGAGTTCAGAAGGGCAGCTGAAGTAGTGTTCTTGGAGA
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GGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCGGCTGACTATTTTCTTAAGAATAAGGATAGTTGGTCACCTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACTTGGGAGGCGGATGTTGCAGTGACCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATGCGGTCTCAAAAAAAAAAAAAAAAACAAAAAACGAAAAAAAAGAAAAATAGTCGGCCGGGGACGGTGGCTCACGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCGGGGGCGGATCACTTGCGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTCCTAAAAATACAAAAATTAGCTGGGCATTGTGGCGCAGGCCTGTAATTTTAGTTACTCTGGAAGCTGAGCCAGGAGAATCGCTTGAATCCGGGAGGTCGAGGTTGCAGTGAGCCGCGATGAAGCCATTGCTCTCCAACCTGGGTGACAAGAGCTAGACTCTGTCTCAGGAAAAAAAAAAAAAGAAAATAGGAAAGCTGCCCGCAAAGCCTGCACCTTGGACACCTCGTCTGCACTAACATTTGGGAAATTCTTCTTATTATTTCTCCGGAACATATATATTTACATTCTTTACATGTCTGTTTCACGTTAAAGAAAATATTTCTGGAGCAATCAATTTTTTTTTCCTTTTTTTTTTTTTTTTTCTGAGACGGAGTTTCGCTCTTATTGCCCAGGCGGAGTGCAATGGTGCGATCTCGGCCCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGATAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCCAATTTTTTTTTTTTTGTAGTAGAGACGGGGTTTCGCCATTTTGCCCAGGCTGGTATCGAACTTCTGACCTCAGGTCATCTACCTGCTTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACTGCCCCTGGCTTCCAATTTTTTTTTCCTTTTTTTTCTTTTCTTTTTTTTTTTTTTCTGAGACGGATTTTCGCTCCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCCCACTGCAACCTTTGCTTCCCGGGTTCTGGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCACGCCCCGCTAATTTTGTATTTTGTATTTATTTATTTATTTATTTTCGTAGATACGTGGTTTCGCCATGTTGGCCAGGCTGGTATCGAACTCCTGACCTCAGGTGATCCGCCCGCCTTGCCCTCCCAAAGTGCTGGGATTACAGGCGTGGCCATCGCGCCCGGCCAAATATTTTTCAAAATCTAATTTTGCATAATGACCAAGATTTGCAGAAAAATACAAATTAAAGAGATCTTTTAAAGTAAAGATTCGTCATAAAAGTCACAGAAATAATACTCATGAATAATAAATTAGAATGGGCAATGTTAAGTACTTGAAATAACAAAGGTTTTAGAGTCAGGGTTTCTGCAGTTTCCCTAGCCATATAACGAGGAGACTGTTAGAGAGGATATCCTAAAATGCTTTCCAAGTTTACCCACCTCTAACTCGGAAGAAGGCAATTTAAACTAATTTGGTTTACCGGAATTCAAATACGTACAATTCAACATAATGAATTGAACTGAAATTGAACACCTGCTTGCGTAAACCTAGTCGGCTCGAGTTGTTCTGGTTCTGGATTGGTCAGTCTAGAGTTCCAGGGGTGTGGCCAAAAGTCTGTGAGGCGGGGCCGTAGGCAGCCTAAATCAGGCATCGGCGCGGTCAGCCTCGTGGCGCGCCCACGCCCCCACGCCGGCTCTTCCCGGGGTCCTTCCGTGCGCGTTGATATGATTGGCCGGCGAATCGTGGTTCTCTTTTCCTCCTTGGCTGTCTGAAGATAGATCGCCATCGTGGTGAGTCTCCCTGGGCCCGTGCAGTCATCTGCCGCGTATCCGAGCCATCCGTGGTCCCTGGGTCCCAGTACTTGAGCTATAGGCACGCGAAGCCCGGTTGCTCTTCTCTGGCCGTTTCTGTCAGAGGATGGTTGTCGAGGGGCTCGGGGCTGTTGGCAGGGCGTCCGGGCTGGCGGGCTGCGCTGTAGACCCGGACACGCTGGGCTTCGGGCTCCAGCGCCTGGGCAGTGCAGGAGCTGTTGCGCTTGTTGACTTCGTGGAGCACGGTGGATGGGGGTAGGGGGCGGGCGGGATAGATGGACACTGGGAGGCACATCTCGTCTGCAGTTCCTCATTGGGCTAGGTAGGCGGCTTGCAGGTGATGGCAGTACAAGAGGTGAAGAAGGTGCGGGCAGCGCCTGGGCGAGTTGCGGCAAGTGAAACCATTCCCACGTGTAAGCTAGAAAACTTGTCAGCTGGATGGATCTTCATGTTTCATAGTGGGGAAACAGGCCCTGGAAAGAGATGTTATAAAAAGGTAGTCCTGCCCTAAGTCATGCGTTATTAGCTCCTCCAGCATCCGTTTTTAACTTTACCAGCAATCTTTTTTTTTTCTCCTTACCTTTGATCCGTTACTTTCAAGAATTGAGTACCACTGACGTGGATTTAATTTGGTGTGGTTTCTCAAAGTAAAATGGAGAAAGTCTAGGAAGTTATTTGCTGCCATGAAAGTCTCTTGCGCCTCCTTTTTGGTAAAATTGTTAGCATAAATTGCTTAATGCCCACATTTTTTGTTAGGTATTAAGTAAAGGTGCAGTTCAGTCCTTCAGAAGGGAATATCGTTTTCTCTGATCTCTGCTATGGCCATTCTAGAAGGATAGATTACATGTAGGTAGTGAGTACAAGGTTTGGGGCACATTTGTGCAAGACATGATAAACACAGTTCATTGAGTGACCTTTATATGAGCCACAGCAGTTTTTACCCCAGAGAAGTGATTCTCAACCCGGAGTGATTTTTCTCCTAAGGGAACAGTTGGCTAAGTCTGGAGACATTTTTGATTGTCACAACTGGGAAAGGTGGGAAGTGCTTCCGGCATCTAGTGGTTAGAGGGCTGGGATTTTTATAGTTATTCTAAAACATACAGTCCCCACAACATATCCATATGGAATTATCCATATGGAAATATCAGTAGTGCTGAGGTTGAGAAACCCTGCCCCAGAGATACACATAACCTAGTGAAGTAAGTTGTACAGATTCATGTGTAAAACCATTGTGTTTTCCTGGTATTTTATGTATTCCTTAGGTGTATCCTGTGAGTTTGGCCTTGCCCAGTGGGTTTTATTTACTTTAGTTCGCTACATGACTAATGGCTACAAATTGGACTGCAACATTCTAGGTCTTGGAAAATCACAGCAAGGCCAAGAAAAGTTGGAGTAGTTTTATTAACCAGAGTGTTTATGTTTTCAGAACGACACCGTAACTATCCGCACTAGAAAGTTCATGACCAACCGACTACTTCAGAGGAAACAAATGGTAAGGAAGGGCACATCAATCTTTGCTTAATTGTCCTTTACTCTAAAGATGTATTTTATCATACTGAATGCTAAACTTGATATCTCCTTTTAGGTCATTGATGTCCTTCACCCCGGGAAGGCGACAGTGCCTAAGACAGAAATTCGGGAAAAACTAGCCAAAATGTACAAGACCACACCGGATGTCATCTTTGTATTTGGATTCAGAACTCATTTTGGTGGTGGCAAGACAACTGGCTTTGGCATGATTTATGATTCCCTGGATTATGCAAAGAAAAATGAACCCAAACATAGACTTGCAAGAGTAGGTGTCTTTTCATTTGTTGATCAGCTCCTGAAGACCTATTTTTTCAATAGCGTTGTGTTGTGAGTGTGGTAAAAAGGGCAAGACCAAGCAATCTGGGATACAACTCTGAAAGGATTAAGAGAAAAAGTTATTTCATAAAATGCACAGGTGGAGTACGGGGGTTCAAAATTGAAGTCTGACATTTGAGCTGAGTTCAGAAGGGCAGCTGAAGTAGTGTTCTTGGAGA
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Task1_train_14091
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The gene LOC130004144, RPS24 (ATAC-STARR-seq lymphoblastoid active region 3613| ribosomal protein S24) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Diamond-Blackfan anemia
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GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCGGCTGACTATTTTCTTAAGAATAAGGATAGTTGGTCACCTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACTTGGGAGGCGGATGTTGCAGTGACCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATGCGGTCTCAAAAAAAAAAAAAAAAACAAAAAACGAAAAAAAAGAAAAATAGTCGGCCGGGGACGGTGGCTCACGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCGGGGGCGGATCACTTGCGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTCCTAAAAATACAAAAATTAGCTGGGCATTGTGGCGCAGGCCTGTAATTTTAGTTACTCTGGAAGCTGAGCCAGGAGAATCGCTTGAATCCGGGAGGTCGAGGTTGCAGTGAGCCGCGATGAAGCCATTGCTCTCCAACCTGGGTGACAAGAGCTAGACTCTGTCTCAGGAAAAAAAAAAAAAGAAAATAGGAAAGCTGCCCGCAAAGCCTGCACCTTGGACACCTCGTCTGCACTAACATTTGGGAAATTCTTCTTATTATTTCTCCGGAACATATATATTTACATTCTTTACATGTCTGTTTCACGTTAAAGAAAATATTTCTGGAGCAATCAATTTTTTTTTCCTTTTTTTTTTTTTTTTTCTGAGACGGAGTTTCGCTCTTATTGCCCAGGCGGAGTGCAATGGTGCGATCTCGGCCCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGATAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCCAATTTTTTTTTTTTTGTAGTAGAGACGGGGTTTCGCCATTTTGCCCAGGCTGGTATCGAACTTCTGACCTCAGGTCATCTACCTGCTTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACTGCCCCTGGCTTCCAATTTTTTTTTCCTTTTTTTTCTTTTCTTTTTTTTTTTTTTCTGAGACGGATTTTCGCTCCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCCCACTGCAACCTTTGCTTCCCGGGTTCTGGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCACGCCCCGCTAATTTTGTATTTTGTATTTATTTATTTATTTATTTTCGTAGATACGTGGTTTCGCCATGTTGGCCAGGCTGGTATCGAACTCCTGACCTCAGGTGATCCGCCCGCCTTGCCCTCCCAAAGTGCTGGGATTACAGGCGTGGCCATCGCGCCCGGCCAAATATTTTTCAAAATCTAATTTTGCATAATGACCAAGATTTGCAGAAAAATACAAATTAAAGAGATCTTTTAAAGTAAAGATTCGTCATAAAAGTCACAGAAATAATACTCATGAATAATAAATTAGAATGGGCAATGTTAAGTACTTGAAATAACAAAGGTTTTAGAGTCAGGGTTTCTGCAGTTTCCCTAGCCATATAACGAGGAGACTGTTAGAGAGGATATCCTAAAATGCTTTCCAAGTTTACCCACCTCTAACTCGGAAGAAGGCAATTTAAACTAATTTGGTTTACCGGAATTCAAATACGTACAATTCAACATAATGAATTGAACTGAAATTGAACACCTGCTTGCGTAAACCTAGTCGGCTCGAGTTGTTCTGGTTCTGGATTGGTCAGTCTAGAGTTCCAGGGGTGTGGCCAAAAGTCTGTGAGGCGGGGCCGTAGGCAGCCTAAATCAGGCATCGGCGCGGTCAGCCTCGTGGCGCGCCCACGCCCCCACGCCGGCTCTTCCCGGGGTCCTTCCGTGCGCGTTGATATGATTGGCCGGCGAATCGTGGTTCTCTTTTCCTCCTTGGCTGTCTGAAGATAGATCGCCATCATGGTGAGTCTCCCTGGGCCCGTGCAGTCATCTGCCGCGTATCCGAGCCATCCGTGGTCCCTGGGTCCCAGTACTTGAGCTATAGGCACGCGAAGCCCGGTTGCTCTTCTCTGGCCGTTTCTGTCAGAGGATGGTTGTCGAGGGGCTCGGGGCTGTTGGCAGGGCGTCCGGGCTGGCGGGCTGCGCTGTAGACCCGGACACGCTGGGCTTCGGGCTCCAGCGCCTGGGCAGTGCAGGAGCTGTTGCGCTTGTTGACTTCGTGGAGCACGGTGGATGGGGGTAGGGGGCGGGCGGGATAGATGGACACTGGGAGGCACATCTCGTCTGCAGTTCCTCATTGGGCTAGGTAGGCGGCTTGCAGGTGATGGCAGTACAAGAGGTGAAGAAGGTGCGGGCAGCGCCTGGGCGAGTTGCGGCAAGTGAAACCATTCCCACGTGTAAGCTAGAAAACTTGTCAGCTGGATGGATCTTCATGTTTCATAGTGGGGAAACAGGCCCTGGAAAGAGATGTTATAAAAAGGTAGTCCTGCCCTAAGTCATGCGTTATTAGCTCCTCCAGCATCCGTTTTTAACTTTACCAGCAATCTTTTTTTTTTCTCCTTACCTTTGATCCGTTACTTTCAAGAATTGAGTACCACTGACGTGGATTTAATTTGGTGTGGTTTCTCAAAGTAAAATGGAGAAAGTCTAGGAAGTTATTTGCTGCCATGAAAGTCTCTTGCGCCTCCTTTTTGGTAAAATTGTTAGCATAAATTGCTTAATGCCCACATTTTTTGTTAGGTATTAAGTAAAGGTGCAGTTCAGTCCTTCAGAAGGGAATATCGTTTTCTCTGATCTCTGCTATGGCCATTCTAGAAGGATAGATTACATGTAGGTAGTGAGTACAAGGTTTGGGGCACATTTGTGCAAGACATGATAAACACAGTTCATTGAGTGACCTTTATATGAGCCACAGCAGTTTTTACCCCAGAGAAGTGATTCTCAACCCGGAGTGATTTTTCTCCTAAGGGAACAGTTGGCTAAGTCTGGAGACATTTTTGATTGTCACAACTGGGAAAGGTGGGAAGTGCTTCCGGCATCTAGTGGTTAGAGGGCTGGGATTTTTATAGTTATTCTAAAACATACAGTCCCCACAACATATCCATATGGAATTATCCATATGGAAATATCAGTAGTGCTGAGGTTGAGAAACCCTGCCCCAGAGATACACATAACCTAGTGAAGTAAGTTGTACAGATTCATGTGTAAAACCATTGTGTTTTCCTGGTATTTTATGTATTCCTTAGGTGTATCCTGTGAGTTTGGCCTTGCCCAGTGGGTTTTATTTACTTTAGTTCGCTACATGACTAATGGCTACAAATTGGACTGCAACATTCTAGGTCTTGGAAAATCACAGCAAGGCCAAGAAAAGTTGGAGTAGTTTTATTAACCAGAGTGTTTATGTTTTCAGAACGACACCGTAACTATCCGCACTAGAAAGTTCATGACCAACCGACTACTTCAGAGGAAACAAATGGTAAGGAAGGGCACATCAATCTTTGCTTAATTGTCCTTTACTCTAAAGATGTATTTTATCATACTGAATGCTAAACTTGATATCTCCTTTTAGGTCATTGATGTCCTTCACCCCGGGAAGGCGACAGTGCCTAAGACAGAAATTCGGGAAAAACTAGCCAAAATGTACAAGACCACACCGGATGTCATCTTTGTATTTGGATTCAGAACTCATTTTGGTGGTGGCAAGACAACTGGCTTTGGCATGATTTATGATTCCCTGGATTATGCAAAGAAAAATGAACCCAAACATAGACTTGCAAGAGTAGGTGTCTTTTCATTTGTTGATCAGCTCCTGAAGACCTATTTTTTCAATAGCGTTGTGTTGTGAGTGTGGTAAAAAGGGCAAGACCAAGCAATCTGGGATACAACTCTGAAAGGATTAAGAGAAAAAGTTATTTCATAAAATGCACAGGTGGAGTACGGGGGTTCAAAATTGAAGTCTGACATTTGAGCTGAGTTCAGAAGGGCAGCTGAAGTAGTGTTCTTGGAGAT
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GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCGGCTGACTATTTTCTTAAGAATAAGGATAGTTGGTCACCTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACTTGGGAGGCGGATGTTGCAGTGACCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATGCGGTCTCAAAAAAAAAAAAAAAAACAAAAAACGAAAAAAAAGAAAAATAGTCGGCCGGGGACGGTGGCTCACGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCGGGGGCGGATCACTTGCGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTCCTAAAAATACAAAAATTAGCTGGGCATTGTGGCGCAGGCCTGTAATTTTAGTTACTCTGGAAGCTGAGCCAGGAGAATCGCTTGAATCCGGGAGGTCGAGGTTGCAGTGAGCCGCGATGAAGCCATTGCTCTCCAACCTGGGTGACAAGAGCTAGACTCTGTCTCAGGAAAAAAAAAAAAAGAAAATAGGAAAGCTGCCCGCAAAGCCTGCACCTTGGACACCTCGTCTGCACTAACATTTGGGAAATTCTTCTTATTATTTCTCCGGAACATATATATTTACATTCTTTACATGTCTGTTTCACGTTAAAGAAAATATTTCTGGAGCAATCAATTTTTTTTTCCTTTTTTTTTTTTTTTTTCTGAGACGGAGTTTCGCTCTTATTGCCCAGGCGGAGTGCAATGGTGCGATCTCGGCCCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGATAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCCAATTTTTTTTTTTTTGTAGTAGAGACGGGGTTTCGCCATTTTGCCCAGGCTGGTATCGAACTTCTGACCTCAGGTCATCTACCTGCTTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACTGCCCCTGGCTTCCAATTTTTTTTTCCTTTTTTTTCTTTTCTTTTTTTTTTTTTTCTGAGACGGATTTTCGCTCCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCCCACTGCAACCTTTGCTTCCCGGGTTCTGGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCACGCCCCGCTAATTTTGTATTTTGTATTTATTTATTTATTTATTTTCGTAGATACGTGGTTTCGCCATGTTGGCCAGGCTGGTATCGAACTCCTGACCTCAGGTGATCCGCCCGCCTTGCCCTCCCAAAGTGCTGGGATTACAGGCGTGGCCATCGCGCCCGGCCAAATATTTTTCAAAATCTAATTTTGCATAATGACCAAGATTTGCAGAAAAATACAAATTAAAGAGATCTTTTAAAGTAAAGATTCGTCATAAAAGTCACAGAAATAATACTCATGAATAATAAATTAGAATGGGCAATGTTAAGTACTTGAAATAACAAAGGTTTTAGAGTCAGGGTTTCTGCAGTTTCCCTAGCCATATAACGAGGAGACTGTTAGAGAGGATATCCTAAAATGCTTTCCAAGTTTACCCACCTCTAACTCGGAAGAAGGCAATTTAAACTAATTTGGTTTACCGGAATTCAAATACGTACAATTCAACATAATGAATTGAACTGAAATTGAACACCTGCTTGCGTAAACCTAGTCGGCTCGAGTTGTTCTGGTTCTGGATTGGTCAGTCTAGAGTTCCAGGGGTGTGGCCAAAAGTCTGTGAGGCGGGGCCGTAGGCAGCCTAAATCAGGCATCGGCGCGGTCAGCCTCGTGGCGCGCCCACGCCCCCACGCCGGCTCTTCCCGGGGTCCTTCCGTGCGCGTTGATATGATTGGCCGGCGAATCGTGGTTCTCTTTTCCTCCTTGGCTGTCTGAAGATAGATCGCCATCACGGTGAGTCTCCCTGGGCCCGTGCAGTCATCTGCCGCGTATCCGAGCCATCCGTGGTCCCTGGGTCCCAGTACTTGAGCTATAGGCACGCGAAGCCCGGTTGCTCTTCTCTGGCCGTTTCTGTCAGAGGATGGTTGTCGAGGGGCTCGGGGCTGTTGGCAGGGCGTCCGGGCTGGCGGGCTGCGCTGTAGACCCGGACACGCTGGGCTTCGGGCTCCAGCGCCTGGGCAGTGCAGGAGCTGTTGCGCTTGTTGACTTCGTGGAGCACGGTGGATGGGGGTAGGGGGCGGGCGGGATAGATGGACACTGGGAGGCACATCTCGTCTGCAGTTCCTCATTGGGCTAGGTAGGCGGCTTGCAGGTGATGGCAGTACAAGAGGTGAAGAAGGTGCGGGCAGCGCCTGGGCGAGTTGCGGCAAGTGAAACCATTCCCACGTGTAAGCTAGAAAACTTGTCAGCTGGATGGATCTTCATGTTTCATAGTGGGGAAACAGGCCCTGGAAAGAGATGTTATAAAAAGGTAGTCCTGCCCTAAGTCATGCGTTATTAGCTCCTCCAGCATCCGTTTTTAACTTTACCAGCAATCTTTTTTTTTTCTCCTTACCTTTGATCCGTTACTTTCAAGAATTGAGTACCACTGACGTGGATTTAATTTGGTGTGGTTTCTCAAAGTAAAATGGAGAAAGTCTAGGAAGTTATTTGCTGCCATGAAAGTCTCTTGCGCCTCCTTTTTGGTAAAATTGTTAGCATAAATTGCTTAATGCCCACATTTTTTGTTAGGTATTAAGTAAAGGTGCAGTTCAGTCCTTCAGAAGGGAATATCGTTTTCTCTGATCTCTGCTATGGCCATTCTAGAAGGATAGATTACATGTAGGTAGTGAGTACAAGGTTTGGGGCACATTTGTGCAAGACATGATAAACACAGTTCATTGAGTGACCTTTATATGAGCCACAGCAGTTTTTACCCCAGAGAAGTGATTCTCAACCCGGAGTGATTTTTCTCCTAAGGGAACAGTTGGCTAAGTCTGGAGACATTTTTGATTGTCACAACTGGGAAAGGTGGGAAGTGCTTCCGGCATCTAGTGGTTAGAGGGCTGGGATTTTTATAGTTATTCTAAAACATACAGTCCCCACAACATATCCATATGGAATTATCCATATGGAAATATCAGTAGTGCTGAGGTTGAGAAACCCTGCCCCAGAGATACACATAACCTAGTGAAGTAAGTTGTACAGATTCATGTGTAAAACCATTGTGTTTTCCTGGTATTTTATGTATTCCTTAGGTGTATCCTGTGAGTTTGGCCTTGCCCAGTGGGTTTTATTTACTTTAGTTCGCTACATGACTAATGGCTACAAATTGGACTGCAACATTCTAGGTCTTGGAAAATCACAGCAAGGCCAAGAAAAGTTGGAGTAGTTTTATTAACCAGAGTGTTTATGTTTTCAGAACGACACCGTAACTATCCGCACTAGAAAGTTCATGACCAACCGACTACTTCAGAGGAAACAAATGGTAAGGAAGGGCACATCAATCTTTGCTTAATTGTCCTTTACTCTAAAGATGTATTTTATCATACTGAATGCTAAACTTGATATCTCCTTTTAGGTCATTGATGTCCTTCACCCCGGGAAGGCGACAGTGCCTAAGACAGAAATTCGGGAAAAACTAGCCAAAATGTACAAGACCACACCGGATGTCATCTTTGTATTTGGATTCAGAACTCATTTTGGTGGTGGCAAGACAACTGGCTTTGGCATGATTTATGATTCCCTGGATTATGCAAAGAAAAATGAACCCAAACATAGACTTGCAAGAGTAGGTGTCTTTTCATTTGTTGATCAGCTCCTGAAGACCTATTTTTTCAATAGCGTTGTGTTGTGAGTGTGGTAAAAAGGGCAAGACCAAGCAATCTGGGATACAACTCTGAAAGGATTAAGAGAAAAAGTTATTTCATAAAATGCACAGGTGGAGTACGGGGGTTCAAAATTGAAGTCTGACATTTGAGCTGAGTTCAGAAGGGCAGCTGAAGTAGTGTTCTTGGAGAT
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Task1_train_14092
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A genetic alteration is present in RPS24 (ribosomal protein S24) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Diamond-Blackfan anemia 3
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CAAGTTTACCCACCTCTAACTCGGAAGAAGGCAATTTAAACTAATTTGGTTTACCGGAATTCAAATACGTACAATTCAACATAATGAATTGAACTGAAATTGAACACCTGCTTGCGTAAACCTAGTCGGCTCGAGTTGTTCTGGTTCTGGATTGGTCAGTCTAGAGTTCCAGGGGTGTGGCCAAAAGTCTGTGAGGCGGGGCCGTAGGCAGCCTAAATCAGGCATCGGCGCGGTCAGCCTCGTGGCGCGCCCACGCCCCCACGCCGGCTCTTCCCGGGGTCCTTCCGTGCGCGTTGATATGATTGGCCGGCGAATCGTGGTTCTCTTTTCCTCCTTGGCTGTCTGAAGATAGATCGCCATCATGGTGAGTCTCCCTGGGCCCGTGCAGTCATCTGCCGCGTATCCGAGCCATCCGTGGTCCCTGGGTCCCAGTACTTGAGCTATAGGCACGCGAAGCCCGGTTGCTCTTCTCTGGCCGTTTCTGTCAGAGGATGGTTGTCGAGGGGCTCGGGGCTGTTGGCAGGGCGTCCGGGCTGGCGGGCTGCGCTGTAGACCCGGACACGCTGGGCTTCGGGCTCCAGCGCCTGGGCAGTGCAGGAGCTGTTGCGCTTGTTGACTTCGTGGAGCACGGTGGATGGGGGTAGGGGGCGGGCGGGATAGATGGACACTGGGAGGCACATCTCGTCTGCAGTTCCTCATTGGGCTAGGTAGGCGGCTTGCAGGTGATGGCAGTACAAGAGGTGAAGAAGGTGCGGGCAGCGCCTGGGCGAGTTGCGGCAAGTGAAACCATTCCCACGTGTAAGCTAGAAAACTTGTCAGCTGGATGGATCTTCATGTTTCATAGTGGGGAAACAGGCCCTGGAAAGAGATGTTATAAAAAGGTAGTCCTGCCCTAAGTCATGCGTTATTAGCTCCTCCAGCATCCGTTTTTAACTTTACCAGCAATCTTTTTTTTTTCTCCTTACCTTTGATCCGTTACTTTCAAGAATTGAGTACCACTGACGTGGATTTAATTTGGTGTGGTTTCTCAAAGTAAAATGGAGAAAGTCTAGGAAGTTATTTGCTGCCATGAAAGTCTCTTGCGCCTCCTTTTTGGTAAAATTGTTAGCATAAATTGCTTAATGCCCACATTTTTTGTTAGGTATTAAGTAAAGGTGCAGTTCAGTCCTTCAGAAGGGAATATCGTTTTCTCTGATCTCTGCTATGGCCATTCTAGAAGGATAGATTACATGTAGGTAGTGAGTACAAGGTTTGGGGCACATTTGTGCAAGACATGATAAACACAGTTCATTGAGTGACCTTTATATGAGCCACAGCAGTTTTTACCCCAGAGAAGTGATTCTCAACCCGGAGTGATTTTTCTCCTAAGGGAACAGTTGGCTAAGTCTGGAGACATTTTTGATTGTCACAACTGGGAAAGGTGGGAAGTGCTTCCGGCATCTAGTGGTTAGAGGGCTGGGATTTTTATAGTTATTCTAAAACATACAGTCCCCACAACATATCCATATGGAATTATCCATATGGAAATATCAGTAGTGCTGAGGTTGAGAAACCCTGCCCCAGAGATACACATAACCTAGTGAAGTAAGTTGTACAGATTCATGTGTAAAACCATTGTGTTTTCCTGGTATTTTATGTATTCCTTAGGTGTATCCTGTGAGTTTGGCCTTGCCCAGTGGGTTTTATTTACTTTAGTTCGCTACATGACTAATGGCTACAAATTGGACTGCAACATTCTAGGTCTTGGAAAATCACAGCAAGGCCAAGAAAAGTTGGAGTAGTTTTATTAACCAGAGTGTTTATGTTTTCAGAACGACACCGTAACTATCCGCACTAGAAAGTTCATGACCAACCGACTACTTCAGAGGAAACAAATGGTAAGGAAGGGCACATCAATCTTTGCTTAATTGTCCTTTACTCTAAAGATGTATTTTATCATACTGAATGCTAAACTTGATATCTCCTTTTAGGTCATTGATGTCCTTCACCCCGGGAAGGCGACAGTGCCTAAGACAGAAATTCGGGAAAAACTAGCCAAAATGTACAAGACCACACCGGATGTCATCTTTGTATTTGGATTCAGAACTCATTTTGGTGGTGGCAAGACAACTGGCTTTGGCATGATTTATGATTCCCTGGATTATGCAAAGAAAAATGAACCCAAACATAGACTTGCAAGAGTAGGTGTCTTTTCATTTGTTGATCAGCTCCTGAAGACCTATTTTTTCAATAGCGTTGTGTTGTGAGTGTGGTAAAAAGGGCAAGACCAAGCAATCTGGGATACAACTCTGAAAGGATTAAGAGAAAAAGTTATTTCATAAAATGCACAGGTGGAGTACGGGGGTTCAAAATTGAAGTCTGACATTTGAGCTGAGTTCAGAAGGGCAGCTGAAGTAGTGTTCTTGGAGATGGGCTAGGGGTAAGGATTGTTTTCCAGAGGAGAAGTAAGGGGATGTGTTTGGAAAGGTAGCCTGGCACCAAATTCACTTAGTTTGGATTAAGTCTGCATCTGGGCTTAAACCCATAGGTAGTCAGGAACCAGGAAAAGTTTTTGATTGTATACTGAGTGTCAAACACTGCAGAGTGAACTACAGCAGTGATCTGGGCAAGCTCCCCAGCTTACATTCTAGTAAACAAGTAAGCATCATCACCTCGAAGTGCTTGTTTTGTTTGTTCCTTTAACTCACTTTATCCTATCCTGTTAGATAAACCTTCCCATACGATAGCTGTGAGGGAAAATCCTGGTGATGTCATAGGTAGAGGCTGCACTTTTTTTTTTAGAGAGAGAGTTTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTACAATCTCCTTGGCTCACTGCAACCTCCGCCTGCCAGGTTCACGCAACTCTTCTGCCTGAGCTTCCTGAGTAGCTGGGATTACAGGTGCGCACCATCATGCCTGGGTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGTCAGCCTGGTCTTGAACTCCTGACCTCGTAATCCGCCCACCTCGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCAGCTGAGGCTGCACTATTTTTAACTGACGTTCGGTCATGTTAAAGGCCTTGCTGAGGTGGTGACATTGAAGCTGAGATCCTTGTAAAGATTTGGAAGTAGTCTTTGTAAAGATACAGAAACAGTCTTGTAGGCCCCAGGAACAGCAAGTGCAAAGGTGGGCAGAGTGGAGATGAGTAGATCCGGAATCTCCATGATGTGGGGGTTGTAAATGCTTGTCTGTCATAAGGGAGTAATGGGGAGTTGAAATGGGAAGAGATCCCCTCAGCCACTTCGGAGGTGCCTTGTTTTGGTAGTGCAAAAGAAGAAAAAATAGTGATCTGTGAGCTCAAGTCTGGACAAGAACAGCCAGTCTCCCAAACTCCCTGTTGAGAGAATGTTGAGTGGACCATTTGTTTCCTGTGAGGCTATTCCATACCTAAAATCCCTTGATGATCCTTTCTGTTCCAGCAAAAACATGCATTAAATGTACTTGAAAAGTTTTGGTTTAGAAAGCTGTGTTTCTTAAGCTCAGACTGGGTCAGTTTCCCTACCAGAGTGGTGGGTAATGATTTTAATGTTTACAAGTCACCTGGATGTACTCTTTTCTCATTCAGCATGGCCTGTATGAGAAGAAAAAGACCTCAAGAAAGCAACGAAAGGAACGCAAGAACAGAATGAAGAAAGTCAGGGGGACTGCAAAGGCCAATGTTGGTGCTGGCAAAAAGGTATAGTTCATTAAGGAAAATATAGAAACGTCATTAATTGTAGGTCTTTAGTTTCTAGGAAAGAAGGGATCTTATTAATTTTTAAAATAACTTTTCTTAATGTTTCTTCTTTTCCCTCTTCTTCTGGATTACAGAAGGTAACATGTTTTAAGAAACTATGTAGCATAGTGTCTTAACACCTCAGTAAAGTAGCTTGGCCCACCCCTTGTCAGCTCACAGCACAATCTGGAGGCCACATTGGTTCATTGATCCCAGCTGGTGGGCACCTTTCAAGCCTATCACAAGAAGTTTTAATTTTACTAATTGGCATAGAACCTTCAATGCAGAGCGGA
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CAAGTTTACCCACCTCTAACTCGGAAGAAGGCAATTTAAACTAATTTGGTTTACCGGAATTCAAATACGTACAATTCAACATAATGAATTGAACTGAAATTGAACACCTGCTTGCGTAAACCTAGTCGGCTCGAGTTGTTCTGGTTCTGGATTGGTCAGTCTAGAGTTCCAGGGGTGTGGCCAAAAGTCTGTGAGGCGGGGCCGTAGGCAGCCTAAATCAGGCATCGGCGCGGTCAGCCTCGTGGCGCGCCCACGCCCCCACGCCGGCTCTTCCCGGGGTCCTTCCGTGCGCGTTGATATGATTGGCCGGCGAATCGTGGTTCTCTTTTCCTCCTTGGCTGTCTGAAGATAGATCGCCATCATGGTGAGTCTCCCTGGGCCCGTGCAGTCATCTGCCGCGTATCCGAGCCATCCGTGGTCCCTGGGTCCCAGTACTTGAGCTATAGGCACGCGAAGCCCGGTTGCTCTTCTCTGGCCGTTTCTGTCAGAGGATGGTTGTCGAGGGGCTCGGGGCTGTTGGCAGGGCGTCCGGGCTGGCGGGCTGCGCTGTAGACCCGGACACGCTGGGCTTCGGGCTCCAGCGCCTGGGCAGTGCAGGAGCTGTTGCGCTTGTTGACTTCGTGGAGCACGGTGGATGGGGGTAGGGGGCGGGCGGGATAGATGGACACTGGGAGGCACATCTCGTCTGCAGTTCCTCATTGGGCTAGGTAGGCGGCTTGCAGGTGATGGCAGTACAAGAGGTGAAGAAGGTGCGGGCAGCGCCTGGGCGAGTTGCGGCAAGTGAAACCATTCCCACGTGTAAGCTAGAAAACTTGTCAGCTGGATGGATCTTCATGTTTCATAGTGGGGAAACAGGCCCTGGAAAGAGATGTTATAAAAAGGTAGTCCTGCCCTAAGTCATGCGTTATTAGCTCCTCCAGCATCCGTTTTTAACTTTACCAGCAATCTTTTTTTTTTCTCCTTACCTTTGATCCGTTACTTTCAAGAATTGAGTACCACTGACGTGGATTTAATTTGGTGTGGTTTCTCAAAGTAAAATGGAGAAAGTCTAGGAAGTTATTTGCTGCCATGAAAGTCTCTTGCGCCTCCTTTTTGGTAAAATTGTTAGCATAAATTGCTTAATGCCCACATTTTTTGTTAGGTATTAAGTAAAGGTGCAGTTCAGTCCTTCAGAAGGGAATATCGTTTTCTCTGATCTCTGCTATGGCCATTCTAGAAGGATAGATTACATGTAGGTAGTGAGTACAAGGTTTGGGGCACATTTGTGCAAGACATGATAAACACAGTTCATTGAGTGACCTTTATATGAGCCACAGCAGTTTTTACCCCAGAGAAGTGATTCTCAACCCGGAGTGATTTTTCTCCTAAGGGAACAGTTGGCTAAGTCTGGAGACATTTTTGATTGTCACAACTGGGAAAGGTGGGAAGTGCTTCCGGCATCTAGTGGTTAGAGGGCTGGGATTTTTATAGTTATTCTAAAACATACAGTCCCCACAACATATCCATATGGAATTATCCATATGGAAATATCAGTAGTGCTGAGGTTGAGAAACCCTGCCCCAGAGATACACATAACCTAGTGAAGTAAGTTGTACAGATTCATGTGTAAAACCATTGTGTTTTCCTGGTATTTTATGTATTCCTTAGGTGTATCCTGTGAGTTTGGCCTTGCCCAGTGGGTTTTATTTACTTTAGTTCGCTACATGACTAATGGCTACAAATTGGACTGCAACATTCTAGGTCTTGGAAAATCACAGCAAGGCCAAGAAAAGTTGGAGTAGTTTTATTAACCAGAGTGTTTATGTTTTCAGAACGACACCGTAACTATCCGCACTAGAAAGTTCATGACCAACCGACTACTTCAGAGGAAACAAATGGTAAGGAAGGGCACATCAATCTTTGCTTAATTGTCCTTTACTCTAAAGATGTATTTTATCATACTGAATGCTAAACTTGATATCTCCTTTTAGGTCATTGATGTCCTTCACCCCGGGAAGGCGACAGTGCCTAAGACAGAAATTCGGGAAAAACTAGCCAAAATGTACAAGCCCACACCGGATGTCATCTTTGTATTTGGATTCAGAACTCATTTTGGTGGTGGCAAGACAACTGGCTTTGGCATGATTTATGATTCCCTGGATTATGCAAAGAAAAATGAACCCAAACATAGACTTGCAAGAGTAGGTGTCTTTTCATTTGTTGATCAGCTCCTGAAGACCTATTTTTTCAATAGCGTTGTGTTGTGAGTGTGGTAAAAAGGGCAAGACCAAGCAATCTGGGATACAACTCTGAAAGGATTAAGAGAAAAAGTTATTTCATAAAATGCACAGGTGGAGTACGGGGGTTCAAAATTGAAGTCTGACATTTGAGCTGAGTTCAGAAGGGCAGCTGAAGTAGTGTTCTTGGAGATGGGCTAGGGGTAAGGATTGTTTTCCAGAGGAGAAGTAAGGGGATGTGTTTGGAAAGGTAGCCTGGCACCAAATTCACTTAGTTTGGATTAAGTCTGCATCTGGGCTTAAACCCATAGGTAGTCAGGAACCAGGAAAAGTTTTTGATTGTATACTGAGTGTCAAACACTGCAGAGTGAACTACAGCAGTGATCTGGGCAAGCTCCCCAGCTTACATTCTAGTAAACAAGTAAGCATCATCACCTCGAAGTGCTTGTTTTGTTTGTTCCTTTAACTCACTTTATCCTATCCTGTTAGATAAACCTTCCCATACGATAGCTGTGAGGGAAAATCCTGGTGATGTCATAGGTAGAGGCTGCACTTTTTTTTTTAGAGAGAGAGTTTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTACAATCTCCTTGGCTCACTGCAACCTCCGCCTGCCAGGTTCACGCAACTCTTCTGCCTGAGCTTCCTGAGTAGCTGGGATTACAGGTGCGCACCATCATGCCTGGGTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGTCAGCCTGGTCTTGAACTCCTGACCTCGTAATCCGCCCACCTCGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCAGCTGAGGCTGCACTATTTTTAACTGACGTTCGGTCATGTTAAAGGCCTTGCTGAGGTGGTGACATTGAAGCTGAGATCCTTGTAAAGATTTGGAAGTAGTCTTTGTAAAGATACAGAAACAGTCTTGTAGGCCCCAGGAACAGCAAGTGCAAAGGTGGGCAGAGTGGAGATGAGTAGATCCGGAATCTCCATGATGTGGGGGTTGTAAATGCTTGTCTGTCATAAGGGAGTAATGGGGAGTTGAAATGGGAAGAGATCCCCTCAGCCACTTCGGAGGTGCCTTGTTTTGGTAGTGCAAAAGAAGAAAAAATAGTGATCTGTGAGCTCAAGTCTGGACAAGAACAGCCAGTCTCCCAAACTCCCTGTTGAGAGAATGTTGAGTGGACCATTTGTTTCCTGTGAGGCTATTCCATACCTAAAATCCCTTGATGATCCTTTCTGTTCCAGCAAAAACATGCATTAAATGTACTTGAAAAGTTTTGGTTTAGAAAGCTGTGTTTCTTAAGCTCAGACTGGGTCAGTTTCCCTACCAGAGTGGTGGGTAATGATTTTAATGTTTACAAGTCACCTGGATGTACTCTTTTCTCATTCAGCATGGCCTGTATGAGAAGAAAAAGACCTCAAGAAAGCAACGAAAGGAACGCAAGAACAGAATGAAGAAAGTCAGGGGGACTGCAAAGGCCAATGTTGGTGCTGGCAAAAAGGTATAGTTCATTAAGGAAAATATAGAAACGTCATTAATTGTAGGTCTTTAGTTTCTAGGAAAGAAGGGATCTTATTAATTTTTAAAATAACTTTTCTTAATGTTTCTTCTTTTCCCTCTTCTTCTGGATTACAGAAGGTAACATGTTTTAAGAAACTATGTAGCATAGTGTCTTAACACCTCAGTAAAGTAGCTTGGCCCACCCCTTGTCAGCTCACAGCACAATCTGGAGGCCACATTGGTTCATTGATCCCAGCTGGTGGGCACCTTTCAAGCCTATCACAAGAAGTTTTAATTTTACTAATTGGCATAGAACCTTCAATGCAGAGCGGA
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Task1_train_14093
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A variant on Chromosome 10 in gene ZMIZ1 (zinc finger MIZ-type containing 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; not provided
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TGTATGGCCTGAGTTGGATTTCATCAAAATATTGTGCCTTGGACTTCTGACAACTCCCTACTCCCCATTGCCCTAGTCAGACCCACCTCCCTCTCATTCCTTCCTCTCTCTTCCACTCCTCCTCTGCCCAGTCAGGGAGTCTCCCACCTGTCTGACCTCTGCCAGCCTTTTCTGTGGCTACATGGAAGGCTCAGGGCTGCTTGTCACCCTGGAGGGAGCCACTGGGCTGACCGGTTGTCGCCTGCTCCTGCTGCCCTCCAGAGCTAGCAGGGTGGGTTCCTCTTGGCCCTCACAGAGCAGCAGCCAGGGGCCTTGGGGCCCCTGTGTGACAAGACGCTGGCATCCAGGCTCGTTTGTGGGGCAGTAGGCTTCATGGCCAGGGCTCTCCCCACGGGTACCTGGTACAAGAGCAGCCTCTTCTCCCTTCACTGGGCTGCGCAGCCCCTGGGGACCGCTTGAACTGGCTTTGTGGGGCTTGGTCATACCCTCAGCTTGTTCCATCACAAGGCTGACGTTCTCATCCCCCACGCCACCTGCCGCCCAGGCCCGCTCCTTATCACCGGTACACTCAGAATAGTTCATCCACCCTCCATTTTTTTCCTCCTCCCTGTTGTCCTGCCTCCACTTTGTTCTTTCTCCCTTTCCCCTCTTCATTTATCCCTCTTCCTCTCCACACTGCCTCGGGTAGCACCTTAGGTGACAACCACTTCTCTGCCCACAGGTCCTTGGGAACCCTATGGCCAATGCCAACAACCCCATGAATCCAGGCGGCAACCCCATGGCGTCGGGCATGACCACCAGCAACCCAGGCCTCAACTCCCCACAGTTTGCGGGGCAGCAGCAGCAGTTCTCAGCCAAGGCTGGCCCCGCTCAGCCCTACATCCAGCAGAGCATGTATGGCCGGCCCAACTACCCCGGCAGCGGGGGCTTTGGGGCCAGGTGAGCAGGGCTGACCTGTGGCAGAAGCCATGGACGCCACCCCTCTTCCTCCTTCCAGTGGGGAGGGACCCACTTAAATCCCAGCTCCACGCTTTCTGCCCTGAGAAGTTATCCTCTGTTGTTACATGAGTTGAAGGGGCTCAGTCATCCCTGGCTCCCAGGGCTGGCCTGCAGATAAGGCGCTGCAGCAGTTGGCCTGTGTTCTGACAGTCGTCAGACTCGTAGAAATAGAGAGGTGACATTCTTACTCCTCAAAACCTCAAAACAACCCTTCTCTAAATTTTGTCTTTAATGAATAGGAAAATATTGAGAAAATCTGGATTGGGAAAGTCGAAGAGCAGGTATAGATGGGGTCCAGTTGCCCAAAGACAGTGAAGCAGTCTGGGAATATCTGCTCTGCCTTGCTGATTGGTGAAAGCAGAACTATGCAGAGACTGCGAGTCCCTTGGCTGGGAAGAAAAGGGCAGGGACTCCCAGGATATGGAGCTCTGGGGAGTGGTGTGAGGCGAGCAGAGGTGCCCATTCTCCTCTTTCCACCCCGCCCTGCCTAAGACCCCCACCTTGGCCTCAGCCCTCACCAGCCCTGGCTGGGTTTCTGGCCTGGGGTTGGCACAGCTATATGACCTGGTGGTTAAACACAGGGATCAGAAACACCTGCAGCTGCAGCCGCAGCTCCGCCATCAATGCTGCAGGGCCTTGGGCAAGTTGCTCAGGTTCTCTGAGACTCAGTGTCCTTCAGAAGATGGGCTCACCAGGGCCCCGACAGCATGCAGTGAGGGTGCAGGCACCCCCAAGGGCTCCAGGAGCACAGCAGCCTGGTCGTTGCCAAGTGGCACAAATGAATGGCTGCCAATCCCAAGAGGCCCCGTCCCCTCTAGGTTCTGGGTACAGCTCCATCATCTCCCTTCCAGCCCACAGCTTGCCCTCAGTTCCCCTCAGATGCAGGCAGTACCTAACTCTTCCACCCTTCTCCCCCTGCAGTTACCCTGGGGGTCCTAACGCCCCCGCAGGCATGGGCATCCCTCCGCACACCAGGCCGCCTGCTGACTTCACTCAGCCCGCGGCAGCCGCTGCAGCAGCGGCAGTGGCAGCAGCAGCAGCCACAGCTACAGCCACAGCCACGGCCACTGTGGCAGCCCTGCAGGAGACACAGAACAAGGATATAAACCAGTATGGACCGGTAAGGGTTCCCACTAATCCTGGTCCAGCCTTGCCCAGCCAGCCAGGCAGACAGCCCTGGGAAACCAGAGTTGGGATGTCAGTGCTTATGGGGCCATGTGTGCTGGGAGAGCTGACTGCATTAGGGTGCATTTGGGCTTTCATGGAAGCATGTGGAGGTCTGTGTGTTTAGAATGGCGCATGTCTAGAATGGGGCGTGTCAGTGTGCTTGGGTGTGGTGGGGTGTATGGGTGCTGGTGTTTGTTCTGTGTGTTGGTGGCTCATGTACAACTGCATATGGGGAAAAGGTTCTACATGGCTCTCTGGGCCCCCAACTCACCAAGGAGTGGGCTCAATGTCTAAAAATAGTCTTGTGACCGGTCTGTCTCCTGGATTGCCTCTGAGACCAGTGCCCTCCTAGTCACCCTATCTGTGGGTCTGCGCAGGCCCCAGTGCTGCTCCCTGACCTTCTGAAGGATGGGTTAGGGGATGAGGAGAGGGGAGCCCCCATAGGAATGCAGAACAGGAGGTGAGGAGGTGGGAACTGCAGGGCAGAGGGGCAGAAGTGGAAGCTGGGCTGAGGCCAACTTTGGGGATGGAGGGTGTGCCTCCACTGGCCCAGGACCAAGGGCAGGGCCAGGGCTTCCAGGAAAGGGGCTGCAGTCTCACTCGGGCTCCTGCCTCCACCCTCATCTACCTCCACCCTCCCATACCCCTCCCTGTCCCTGCACACTTTCCTGGTTTTCTGCCTGCCTCCCTCCCTGGAAATGCTGCCTGTGCATCGGAGTGACCACCTCACCCCACCCCACCCCATCCCCTAACACCCCTGAGCTGCATCTCTCCTGTGCGGCTGCAGAGGGCAGCAGTGAGCCTGGGTGGATCCTGCTCCCCTGGGGCCTGGTTGGTCACCAGTCACTGCCGCACAGGACAGTGCCCCCTCCCCACTCCTCCACCTCCCCAACCCTTCCCTCCCTGCACTTTCAATGCATGTGGCATTTTATTCTTTTTTTTTTCTTCTCCCGTTGAAGGTCTGTTCCTCTTTCCAGATGGGTCCCACCCAGGCGTATAACAGCCAATTCATGAACCAGCCCGGGCCGCGGGGGCCTGCCTCCATGGGGGGCAGCATGAACCCCGCGAGCATGGCGGCTGGCATGACGCCCTCGGGGATGAGCGGCCCTCCCATGGGCATGAACCAGCCCCGGCCGCCCGGCATCAGCCCCTTTGGCACACACGGGCAGCGGATGCCCCAGCAGACCTACCCGGGCCCCCGGCCCCAGTCCCTTCCTATTCAGAACATAAAGAGGCCATACCCTGGAGAGGTGAGTGCAGCAGTGGGAGCCTGGGAGGTGGGAACTGGGACACCTGGGCTTGAAGACATGGGCCGTGGGTACGGCTTTGGAAGGGGTGTGGCTTGGACTCCAGCACACTTGGACAAAGAGGCAGGGGCTTAGGGGTCAGGTGCTCCTGGGTTTGAGACCTGGTTCTGCTGTTTCCCAACTGAAAGACCTCGAGCCAGTCACCCTGCCTCCTAGGGCTGCTTGAGGGACTTGAGGAGGTGTCCGTGAAGTGCTTGGCCCTGGGCTGGCATGTGCCGCCACTCAGCAAGCAGCAGTTCCTCTTACTGTAGTGACTCTTGTCTTGGCTCAGCCACTAACTGGGTGACCTGGGTTTAGTTCCTCCTGCCCACATGAGAGCTTCCCCAACTCCTCTCCAAGAAAGAGAGCTGAGACAAAATGCTTCCAGTCTATAAGGGCTGACCCGTCCGGGAAGTGACTGGAAGGCAGGCAGCGTGTTTCCAGTCTGTAAGGATTGACCTGTTGGGGAAGTGACTGGAAGGCAGAGAGCGTGTTTCCAATCTATAAGGACTGACCCGTTGGGGAAGTGACTGGAAGGCCGGCAGCTGTTTCCAGTCTATAAGGACTGACCCGTCAGGGAAGTGACTGGAAGGCAGACAGCGTGTTTCTTAGCTCTTGTTTCCATCCACACTTGGTCACTGTAT
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TGTATGGCCTGAGTTGGATTTCATCAAAATATTGTGCCTTGGACTTCTGACAACTCCCTACTCCCCATTGCCCTAGTCAGACCCACCTCCCTCTCATTCCTTCCTCTCTCTTCCACTCCTCCTCTGCCCAGTCAGGGAGTCTCCCACCTGTCTGACCTCTGCCAGCCTTTTCTGTGGCTACATGGAAGGCTCAGGGCTGCTTGTCACCCTGGAGGGAGCCACTGGGCTGACCGGTTGTCGCCTGCTCCTGCTGCCCTCCAGAGCTAGCAGGGTGGGTTCCTCTTGGCCCTCACAGAGCAGCAGCCAGGGGCCTTGGGGCCCCTGTGTGACAAGACGCTGGCATCCAGGCTCGTTTGTGGGGCAGTAGGCTTCATGGCCAGGGCTCTCCCCACGGGTACCTGGTACAAGAGCAGCCTCTTCTCCCTTCACTGGGCTGCGCAGCCCCTGGGGACCGCTTGAACTGGCTTTGTGGGGCTTGGTCATACCCTCAGCTTGTTCCATCACAAGGCTGACGTTCTCATCCCCCACGCCACCTGCCGCCCAGGCCCGCTCCTTATCACCGGTACACTCAGAATAGTTCATCCACCCTCCATTTTTTTCCTCCTCCCTGTTGTCCTGCCTCCACTTTGTTCTTTCTCCCTTTCCCCTCTTCATTTATCCCTCTTCCTCTCCACACTGCCTCGGGTAGCACCTTAGGTGACAACCACTTCTCTGCCCACAGGTCCTTGGGAACCCTATGGCCAATGCCAACAACCCCATGAATCCAGGCGGCAACCCCATGGCGTCGGGCATGACCACCAGCAACCCAGGCCTCAACTCCCCACAGTTTGCGGGGCAGCAGCAGCAGTTCTCAGCCAAGGCTGGCCCCGCTCAGCCCTACATCCAGCAGAGCATGTATGGCCGGCCCAACTACCCCGGCAGCGGGGGCTTTGGGGCCAGGTGAGCAGGGCTGACCTGTGGCAGAAGCCATGGACGCCACCCCTCTTCCTCCTTCCAGTGGGGAGGGACCCACTTAAATCCCAGCTCCACGCTTTCTGCCCTGAGAAGTTATCCTCTGTTGTTACATGAGTTGAAGGGGCTCAGTCATCCCTGGCTCCCAGGGCTGGCCTGCAGATAAGGCGCTGCAGCAGTTGGCCTGTGTTCTGACAGTCGTCAGACTCGTAGAAATAGAGAGGTGACATTCTTACTCCTCAAAACCTCAAAACAACCCTTCTCTAAATTTTGTCTTTAATGAATAGGAAAATATTGAGAAAATCTGGATTGGGAAAGTCGAAGAGCAGGTATAGATGGGGTCCAGTTGCCCAAAGACAGTGAAGCAGTCTGGGAATATCTGCTCTGCCTTGCTGATTGGTGAAAGCAGAACTATGCAGAGACTGCGAGTCCCTTGGCTGGGAAGAAAAGGGCAGGGACTCCCAGGATATGGAGCTCTGGGGAGTGGTGTGAGGCGAGCAGAGGTGCCCATTCTCCTCTTTCCACCCCGCCCTGCCTAAGACCCCCACCTTGGCCTCAGCCCTCACCAGCCCTGGCTGGGTTTCTGGCCTGGGGTTGGCACAGCTATATGACCTGGTGGTTAAACACAGGGATCAGAAACACCTGCAGCTGCAGCCGCAGCTCCGCCATCAATGCTGCAGGGCCTTGGGCAAGTTGCTCAGGTTCTCTGAGACTCAGTGTCCTTCAGAAGATGGGCTCACCAGGGCCCCGACAGCATGCAGTGAGGGTGCAGGCACCCCCAAGGGCTCCAGGAGCACAGCAGCCTGGTCGTTGCCAAGTGGCACAAATGAATGGCTGCCAATCCCAAGAGGCCCCGTCCCCTCTAGGTTCTGGGTACAGCTCCATCATCTCCCTTCCAGCCCACAGCTTGCCCTCAGTTCCCCTCAGATGCAGGCAGTACCTAACTCTTCCACCCTTCTCCCCCTGCAGTTACCCTGGGGGTCCTAACGCCCCCGCAGGCATGGGCATCCCTCCGCACACCAGGCCGCCTGCTGACTTCACTCAGCCCGCGGCAGCCGCTGCAGCAGCGGCAGTGGCAGCAGCAGCAGCCACAGCTATAGCCACAGCCACGGCCACTGTGGCAGCCCTGCAGGAGACACAGAACAAGGATATAAACCAGTATGGACCGGTAAGGGTTCCCACTAATCCTGGTCCAGCCTTGCCCAGCCAGCCAGGCAGACAGCCCTGGGAAACCAGAGTTGGGATGTCAGTGCTTATGGGGCCATGTGTGCTGGGAGAGCTGACTGCATTAGGGTGCATTTGGGCTTTCATGGAAGCATGTGGAGGTCTGTGTGTTTAGAATGGCGCATGTCTAGAATGGGGCGTGTCAGTGTGCTTGGGTGTGGTGGGGTGTATGGGTGCTGGTGTTTGTTCTGTGTGTTGGTGGCTCATGTACAACTGCATATGGGGAAAAGGTTCTACATGGCTCTCTGGGCCCCCAACTCACCAAGGAGTGGGCTCAATGTCTAAAAATAGTCTTGTGACCGGTCTGTCTCCTGGATTGCCTCTGAGACCAGTGCCCTCCTAGTCACCCTATCTGTGGGTCTGCGCAGGCCCCAGTGCTGCTCCCTGACCTTCTGAAGGATGGGTTAGGGGATGAGGAGAGGGGAGCCCCCATAGGAATGCAGAACAGGAGGTGAGGAGGTGGGAACTGCAGGGCAGAGGGGCAGAAGTGGAAGCTGGGCTGAGGCCAACTTTGGGGATGGAGGGTGTGCCTCCACTGGCCCAGGACCAAGGGCAGGGCCAGGGCTTCCAGGAAAGGGGCTGCAGTCTCACTCGGGCTCCTGCCTCCACCCTCATCTACCTCCACCCTCCCATACCCCTCCCTGTCCCTGCACACTTTCCTGGTTTTCTGCCTGCCTCCCTCCCTGGAAATGCTGCCTGTGCATCGGAGTGACCACCTCACCCCACCCCACCCCATCCCCTAACACCCCTGAGCTGCATCTCTCCTGTGCGGCTGCAGAGGGCAGCAGTGAGCCTGGGTGGATCCTGCTCCCCTGGGGCCTGGTTGGTCACCAGTCACTGCCGCACAGGACAGTGCCCCCTCCCCACTCCTCCACCTCCCCAACCCTTCCCTCCCTGCACTTTCAATGCATGTGGCATTTTATTCTTTTTTTTTTCTTCTCCCGTTGAAGGTCTGTTCCTCTTTCCAGATGGGTCCCACCCAGGCGTATAACAGCCAATTCATGAACCAGCCCGGGCCGCGGGGGCCTGCCTCCATGGGGGGCAGCATGAACCCCGCGAGCATGGCGGCTGGCATGACGCCCTCGGGGATGAGCGGCCCTCCCATGGGCATGAACCAGCCCCGGCCGCCCGGCATCAGCCCCTTTGGCACACACGGGCAGCGGATGCCCCAGCAGACCTACCCGGGCCCCCGGCCCCAGTCCCTTCCTATTCAGAACATAAAGAGGCCATACCCTGGAGAGGTGAGTGCAGCAGTGGGAGCCTGGGAGGTGGGAACTGGGACACCTGGGCTTGAAGACATGGGCCGTGGGTACGGCTTTGGAAGGGGTGTGGCTTGGACTCCAGCACACTTGGACAAAGAGGCAGGGGCTTAGGGGTCAGGTGCTCCTGGGTTTGAGACCTGGTTCTGCTGTTTCCCAACTGAAAGACCTCGAGCCAGTCACCCTGCCTCCTAGGGCTGCTTGAGGGACTTGAGGAGGTGTCCGTGAAGTGCTTGGCCCTGGGCTGGCATGTGCCGCCACTCAGCAAGCAGCAGTTCCTCTTACTGTAGTGACTCTTGTCTTGGCTCAGCCACTAACTGGGTGACCTGGGTTTAGTTCCTCCTGCCCACATGAGAGCTTCCCCAACTCCTCTCCAAGAAAGAGAGCTGAGACAAAATGCTTCCAGTCTATAAGGGCTGACCCGTCCGGGAAGTGACTGGAAGGCAGGCAGCGTGTTTCCAGTCTGTAAGGATTGACCTGTTGGGGAAGTGACTGGAAGGCAGAGAGCGTGTTTCCAATCTATAAGGACTGACCCGTTGGGGAAGTGACTGGAAGGCCGGCAGCTGTTTCCAGTCTATAAGGACTGACCCGTCAGGGAAGTGACTGGAAGGCAGACAGCGTGTTTCTTAGCTCTTGTTTCCATCCACACTTGGTCACTGTAT
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Task1_train_14094
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This variant lies on Chromosome 10 and affects the gene ZMIZ1 (zinc finger MIZ-type containing 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
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GTTGGATTTCATCAAAATATTGTGCCTTGGACTTCTGACAACTCCCTACTCCCCATTGCCCTAGTCAGACCCACCTCCCTCTCATTCCTTCCTCTCTCTTCCACTCCTCCTCTGCCCAGTCAGGGAGTCTCCCACCTGTCTGACCTCTGCCAGCCTTTTCTGTGGCTACATGGAAGGCTCAGGGCTGCTTGTCACCCTGGAGGGAGCCACTGGGCTGACCGGTTGTCGCCTGCTCCTGCTGCCCTCCAGAGCTAGCAGGGTGGGTTCCTCTTGGCCCTCACAGAGCAGCAGCCAGGGGCCTTGGGGCCCCTGTGTGACAAGACGCTGGCATCCAGGCTCGTTTGTGGGGCAGTAGGCTTCATGGCCAGGGCTCTCCCCACGGGTACCTGGTACAAGAGCAGCCTCTTCTCCCTTCACTGGGCTGCGCAGCCCCTGGGGACCGCTTGAACTGGCTTTGTGGGGCTTGGTCATACCCTCAGCTTGTTCCATCACAAGGCTGACGTTCTCATCCCCCACGCCACCTGCCGCCCAGGCCCGCTCCTTATCACCGGTACACTCAGAATAGTTCATCCACCCTCCATTTTTTTCCTCCTCCCTGTTGTCCTGCCTCCACTTTGTTCTTTCTCCCTTTCCCCTCTTCATTTATCCCTCTTCCTCTCCACACTGCCTCGGGTAGCACCTTAGGTGACAACCACTTCTCTGCCCACAGGTCCTTGGGAACCCTATGGCCAATGCCAACAACCCCATGAATCCAGGCGGCAACCCCATGGCGTCGGGCATGACCACCAGCAACCCAGGCCTCAACTCCCCACAGTTTGCGGGGCAGCAGCAGCAGTTCTCAGCCAAGGCTGGCCCCGCTCAGCCCTACATCCAGCAGAGCATGTATGGCCGGCCCAACTACCCCGGCAGCGGGGGCTTTGGGGCCAGGTGAGCAGGGCTGACCTGTGGCAGAAGCCATGGACGCCACCCCTCTTCCTCCTTCCAGTGGGGAGGGACCCACTTAAATCCCAGCTCCACGCTTTCTGCCCTGAGAAGTTATCCTCTGTTGTTACATGAGTTGAAGGGGCTCAGTCATCCCTGGCTCCCAGGGCTGGCCTGCAGATAAGGCGCTGCAGCAGTTGGCCTGTGTTCTGACAGTCGTCAGACTCGTAGAAATAGAGAGGTGACATTCTTACTCCTCAAAACCTCAAAACAACCCTTCTCTAAATTTTGTCTTTAATGAATAGGAAAATATTGAGAAAATCTGGATTGGGAAAGTCGAAGAGCAGGTATAGATGGGGTCCAGTTGCCCAAAGACAGTGAAGCAGTCTGGGAATATCTGCTCTGCCTTGCTGATTGGTGAAAGCAGAACTATGCAGAGACTGCGAGTCCCTTGGCTGGGAAGAAAAGGGCAGGGACTCCCAGGATATGGAGCTCTGGGGAGTGGTGTGAGGCGAGCAGAGGTGCCCATTCTCCTCTTTCCACCCCGCCCTGCCTAAGACCCCCACCTTGGCCTCAGCCCTCACCAGCCCTGGCTGGGTTTCTGGCCTGGGGTTGGCACAGCTATATGACCTGGTGGTTAAACACAGGGATCAGAAACACCTGCAGCTGCAGCCGCAGCTCCGCCATCAATGCTGCAGGGCCTTGGGCAAGTTGCTCAGGTTCTCTGAGACTCAGTGTCCTTCAGAAGATGGGCTCACCAGGGCCCCGACAGCATGCAGTGAGGGTGCAGGCACCCCCAAGGGCTCCAGGAGCACAGCAGCCTGGTCGTTGCCAAGTGGCACAAATGAATGGCTGCCAATCCCAAGAGGCCCCGTCCCCTCTAGGTTCTGGGTACAGCTCCATCATCTCCCTTCCAGCCCACAGCTTGCCCTCAGTTCCCCTCAGATGCAGGCAGTACCTAACTCTTCCACCCTTCTCCCCCTGCAGTTACCCTGGGGGTCCTAACGCCCCCGCAGGCATGGGCATCCCTCCGCACACCAGGCCGCCTGCTGACTTCACTCAGCCCGCGGCAGCCGCTGCAGCAGCGGCAGTGGCAGCAGCAGCAGCCACAGCTACAGCCACAGCCACGGCCACTGTGGCAGCCCTGCAGGAGACACAGAACAAGGATATAAACCAGTATGGACCGGTAAGGGTTCCCACTAATCCTGGTCCAGCCTTGCCCAGCCAGCCAGGCAGACAGCCCTGGGAAACCAGAGTTGGGATGTCAGTGCTTATGGGGCCATGTGTGCTGGGAGAGCTGACTGCATTAGGGTGCATTTGGGCTTTCATGGAAGCATGTGGAGGTCTGTGTGTTTAGAATGGCGCATGTCTAGAATGGGGCGTGTCAGTGTGCTTGGGTGTGGTGGGGTGTATGGGTGCTGGTGTTTGTTCTGTGTGTTGGTGGCTCATGTACAACTGCATATGGGGAAAAGGTTCTACATGGCTCTCTGGGCCCCCAACTCACCAAGGAGTGGGCTCAATGTCTAAAAATAGTCTTGTGACCGGTCTGTCTCCTGGATTGCCTCTGAGACCAGTGCCCTCCTAGTCACCCTATCTGTGGGTCTGCGCAGGCCCCAGTGCTGCTCCCTGACCTTCTGAAGGATGGGTTAGGGGATGAGGAGAGGGGAGCCCCCATAGGAATGCAGAACAGGAGGTGAGGAGGTGGGAACTGCAGGGCAGAGGGGCAGAAGTGGAAGCTGGGCTGAGGCCAACTTTGGGGATGGAGGGTGTGCCTCCACTGGCCCAGGACCAAGGGCAGGGCCAGGGCTTCCAGGAAAGGGGCTGCAGTCTCACTCGGGCTCCTGCCTCCACCCTCATCTACCTCCACCCTCCCATACCCCTCCCTGTCCCTGCACACTTTCCTGGTTTTCTGCCTGCCTCCCTCCCTGGAAATGCTGCCTGTGCATCGGAGTGACCACCTCACCCCACCCCACCCCATCCCCTAACACCCCTGAGCTGCATCTCTCCTGTGCGGCTGCAGAGGGCAGCAGTGAGCCTGGGTGGATCCTGCTCCCCTGGGGCCTGGTTGGTCACCAGTCACTGCCGCACAGGACAGTGCCCCCTCCCCACTCCTCCACCTCCCCAACCCTTCCCTCCCTGCACTTTCAATGCATGTGGCATTTTATTCTTTTTTTTTTCTTCTCCCGTTGAAGGTCTGTTCCTCTTTCCAGATGGGTCCCACCCAGGCGTATAACAGCCAATTCATGAACCAGCCCGGGCCGCGGGGGCCTGCCTCCATGGGGGGCAGCATGAACCCCGCGAGCATGGCGGCTGGCATGACGCCCTCGGGGATGAGCGGCCCTCCCATGGGCATGAACCAGCCCCGGCCGCCCGGCATCAGCCCCTTTGGCACACACGGGCAGCGGATGCCCCAGCAGACCTACCCGGGCCCCCGGCCCCAGTCCCTTCCTATTCAGAACATAAAGAGGCCATACCCTGGAGAGGTGAGTGCAGCAGTGGGAGCCTGGGAGGTGGGAACTGGGACACCTGGGCTTGAAGACATGGGCCGTGGGTACGGCTTTGGAAGGGGTGTGGCTTGGACTCCAGCACACTTGGACAAAGAGGCAGGGGCTTAGGGGTCAGGTGCTCCTGGGTTTGAGACCTGGTTCTGCTGTTTCCCAACTGAAAGACCTCGAGCCAGTCACCCTGCCTCCTAGGGCTGCTTGAGGGACTTGAGGAGGTGTCCGTGAAGTGCTTGGCCCTGGGCTGGCATGTGCCGCCACTCAGCAAGCAGCAGTTCCTCTTACTGTAGTGACTCTTGTCTTGGCTCAGCCACTAACTGGGTGACCTGGGTTTAGTTCCTCCTGCCCACATGAGAGCTTCCCCAACTCCTCTCCAAGAAAGAGAGCTGAGACAAAATGCTTCCAGTCTATAAGGGCTGACCCGTCCGGGAAGTGACTGGAAGGCAGGCAGCGTGTTTCCAGTCTGTAAGGATTGACCTGTTGGGGAAGTGACTGGAAGGCAGAGAGCGTGTTTCCAATCTATAAGGACTGACCCGTTGGGGAAGTGACTGGAAGGCCGGCAGCTGTTTCCAGTCTATAAGGACTGACCCGTCAGGGAAGTGACTGGAAGGCAGACAGCGTGTTTCTTAGCTCTTGTTTCCATCCACACTTGGTCACTGTATAGGAAGTGGCAC
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GTTGGATTTCATCAAAATATTGTGCCTTGGACTTCTGACAACTCCCTACTCCCCATTGCCCTAGTCAGACCCACCTCCCTCTCATTCCTTCCTCTCTCTTCCACTCCTCCTCTGCCCAGTCAGGGAGTCTCCCACCTGTCTGACCTCTGCCAGCCTTTTCTGTGGCTACATGGAAGGCTCAGGGCTGCTTGTCACCCTGGAGGGAGCCACTGGGCTGACCGGTTGTCGCCTGCTCCTGCTGCCCTCCAGAGCTAGCAGGGTGGGTTCCTCTTGGCCCTCACAGAGCAGCAGCCAGGGGCCTTGGGGCCCCTGTGTGACAAGACGCTGGCATCCAGGCTCGTTTGTGGGGCAGTAGGCTTCATGGCCAGGGCTCTCCCCACGGGTACCTGGTACAAGAGCAGCCTCTTCTCCCTTCACTGGGCTGCGCAGCCCCTGGGGACCGCTTGAACTGGCTTTGTGGGGCTTGGTCATACCCTCAGCTTGTTCCATCACAAGGCTGACGTTCTCATCCCCCACGCCACCTGCCGCCCAGGCCCGCTCCTTATCACCGGTACACTCAGAATAGTTCATCCACCCTCCATTTTTTTCCTCCTCCCTGTTGTCCTGCCTCCACTTTGTTCTTTCTCCCTTTCCCCTCTTCATTTATCCCTCTTCCTCTCCACACTGCCTCGGGTAGCACCTTAGGTGACAACCACTTCTCTGCCCACAGGTCCTTGGGAACCCTATGGCCAATGCCAACAACCCCATGAATCCAGGCGGCAACCCCATGGCGTCGGGCATGACCACCAGCAACCCAGGCCTCAACTCCCCACAGTTTGCGGGGCAGCAGCAGCAGTTCTCAGCCAAGGCTGGCCCCGCTCAGCCCTACATCCAGCAGAGCATGTATGGCCGGCCCAACTACCCCGGCAGCGGGGGCTTTGGGGCCAGGTGAGCAGGGCTGACCTGTGGCAGAAGCCATGGACGCCACCCCTCTTCCTCCTTCCAGTGGGGAGGGACCCACTTAAATCCCAGCTCCACGCTTTCTGCCCTGAGAAGTTATCCTCTGTTGTTACATGAGTTGAAGGGGCTCAGTCATCCCTGGCTCCCAGGGCTGGCCTGCAGATAAGGCGCTGCAGCAGTTGGCCTGTGTTCTGACAGTCGTCAGACTCGTAGAAATAGAGAGGTGACATTCTTACTCCTCAAAACCTCAAAACAACCCTTCTCTAAATTTTGTCTTTAATGAATAGGAAAATATTGAGAAAATCTGGATTGGGAAAGTCGAAGAGCAGGTATAGATGGGGTCCAGTTGCCCAAAGACAGTGAAGCAGTCTGGGAATATCTGCTCTGCCTTGCTGATTGGTGAAAGCAGAACTATGCAGAGACTGCGAGTCCCTTGGCTGGGAAGAAAAGGGCAGGGACTCCCAGGATATGGAGCTCTGGGGAGTGGTGTGAGGCGAGCAGAGGTGCCCATTCTCCTCTTTCCACCCCGCCCTGCCTAAGACCCCCACCTTGGCCTCAGCCCTCACCAGCCCTGGCTGGGTTTCTGGCCTGGGGTTGGCACAGCTATATGACCTGGTGGTTAAACACAGGGATCAGAAACACCTGCAGCTGCAGCCGCAGCTCCGCCATCAATGCTGCAGGGCCTTGGGCAAGTTGCTCAGGTTCTCTGAGACTCAGTGTCCTTCAGAAGATGGGCTCACCAGGGCCCCGACAGCATGCAGTGAGGGTGCAGGCACCCCCAAGGGCTCCAGGAGCACAGCAGCCTGGTCGTTGCCAAGTGGCACAAATGAATGGCTGCCAATCCCAAGAGGCCCCGTCCCCTCTAGGTTCTGGGTACAGCTCCATCATCTCCCTTCCAGCCCACAGCTTGCCCTCAGTTCCCCTCAGATGCAGGCAGTACCTAACTCTTCCACCCTTCTCCCCCTGCAGTTACCCTGGGGGTCCTAACGCCCCCGCAGGCATGGGCATCCCTCCGCACACCAGGCCGCCTGCTGACTTCACTCAGCCCGCGGCAGCCGCTGCAGCAGCGGCAGTGGCAGCAGCAGCAGCCACAGCTACAGCCACAGCCATGGCCACTGTGGCAGCCCTGCAGGAGACACAGAACAAGGATATAAACCAGTATGGACCGGTAAGGGTTCCCACTAATCCTGGTCCAGCCTTGCCCAGCCAGCCAGGCAGACAGCCCTGGGAAACCAGAGTTGGGATGTCAGTGCTTATGGGGCCATGTGTGCTGGGAGAGCTGACTGCATTAGGGTGCATTTGGGCTTTCATGGAAGCATGTGGAGGTCTGTGTGTTTAGAATGGCGCATGTCTAGAATGGGGCGTGTCAGTGTGCTTGGGTGTGGTGGGGTGTATGGGTGCTGGTGTTTGTTCTGTGTGTTGGTGGCTCATGTACAACTGCATATGGGGAAAAGGTTCTACATGGCTCTCTGGGCCCCCAACTCACCAAGGAGTGGGCTCAATGTCTAAAAATAGTCTTGTGACCGGTCTGTCTCCTGGATTGCCTCTGAGACCAGTGCCCTCCTAGTCACCCTATCTGTGGGTCTGCGCAGGCCCCAGTGCTGCTCCCTGACCTTCTGAAGGATGGGTTAGGGGATGAGGAGAGGGGAGCCCCCATAGGAATGCAGAACAGGAGGTGAGGAGGTGGGAACTGCAGGGCAGAGGGGCAGAAGTGGAAGCTGGGCTGAGGCCAACTTTGGGGATGGAGGGTGTGCCTCCACTGGCCCAGGACCAAGGGCAGGGCCAGGGCTTCCAGGAAAGGGGCTGCAGTCTCACTCGGGCTCCTGCCTCCACCCTCATCTACCTCCACCCTCCCATACCCCTCCCTGTCCCTGCACACTTTCCTGGTTTTCTGCCTGCCTCCCTCCCTGGAAATGCTGCCTGTGCATCGGAGTGACCACCTCACCCCACCCCACCCCATCCCCTAACACCCCTGAGCTGCATCTCTCCTGTGCGGCTGCAGAGGGCAGCAGTGAGCCTGGGTGGATCCTGCTCCCCTGGGGCCTGGTTGGTCACCAGTCACTGCCGCACAGGACAGTGCCCCCTCCCCACTCCTCCACCTCCCCAACCCTTCCCTCCCTGCACTTTCAATGCATGTGGCATTTTATTCTTTTTTTTTTCTTCTCCCGTTGAAGGTCTGTTCCTCTTTCCAGATGGGTCCCACCCAGGCGTATAACAGCCAATTCATGAACCAGCCCGGGCCGCGGGGGCCTGCCTCCATGGGGGGCAGCATGAACCCCGCGAGCATGGCGGCTGGCATGACGCCCTCGGGGATGAGCGGCCCTCCCATGGGCATGAACCAGCCCCGGCCGCCCGGCATCAGCCCCTTTGGCACACACGGGCAGCGGATGCCCCAGCAGACCTACCCGGGCCCCCGGCCCCAGTCCCTTCCTATTCAGAACATAAAGAGGCCATACCCTGGAGAGGTGAGTGCAGCAGTGGGAGCCTGGGAGGTGGGAACTGGGACACCTGGGCTTGAAGACATGGGCCGTGGGTACGGCTTTGGAAGGGGTGTGGCTTGGACTCCAGCACACTTGGACAAAGAGGCAGGGGCTTAGGGGTCAGGTGCTCCTGGGTTTGAGACCTGGTTCTGCTGTTTCCCAACTGAAAGACCTCGAGCCAGTCACCCTGCCTCCTAGGGCTGCTTGAGGGACTTGAGGAGGTGTCCGTGAAGTGCTTGGCCCTGGGCTGGCATGTGCCGCCACTCAGCAAGCAGCAGTTCCTCTTACTGTAGTGACTCTTGTCTTGGCTCAGCCACTAACTGGGTGACCTGGGTTTAGTTCCTCCTGCCCACATGAGAGCTTCCCCAACTCCTCTCCAAGAAAGAGAGCTGAGACAAAATGCTTCCAGTCTATAAGGGCTGACCCGTCCGGGAAGTGACTGGAAGGCAGGCAGCGTGTTTCCAGTCTGTAAGGATTGACCTGTTGGGGAAGTGACTGGAAGGCAGAGAGCGTGTTTCCAATCTATAAGGACTGACCCGTTGGGGAAGTGACTGGAAGGCCGGCAGCTGTTTCCAGTCTATAAGGACTGACCCGTCAGGGAAGTGACTGGAAGGCAGACAGCGTGTTTCTTAGCTCTTGTTTCCATCCACACTTGGTCACTGTATAGGAAGTGGCAC
|
Task1_train_14095
|
An alteration has been detected in SFTPA2 (surfactant protein A2) on Chromosome 10. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Interstitial lung disease 2
|
TGGGTCCCAAGCACATGTGGAATGGTGACCAGATTAAAAATTATCATTCAGAAAAGAATCAGAAATTATTCCCCTCATTCTCATCTGATTTTGTGGGTCTTGATCCAGAGCTTGCCTCTGCCCAAGAAAAGCAGTAAATCCACGAGAGAGAGTGTTCGCAGGTGTGAGGGTGGGAGTAGTGGGAGCCTTTCTGGAGGTGGGACACATACGTGGCTGCCTCCTCAAGCAATTGGGGACATTGTCTCAATCCTGCACAGCCCTGGGGTATGGGGCAGTGGTCCCATTTCAAGCCGACATGAGACTAGGATGGCTCACTGAGGCCTGGAACTGAGCCCTGAGTGCCAACATCACTGCTGGGCTGCAGAAATCATTCAGGTGGCTGCGCAGAGGACGGAAGGCATTATATCCCCACCCACAAATGCACCACATGGATTCAAGATGCCCATGTGTTCTTCCAAATGGTGTCTGTAGCTCCCCAACCTCCAGCAGCATCATAGCGAGGAGAGCAGGTTGCCCCTCCCATCAAACAAAGAAAGCACATCCTGAGATTGAATTTTCCAATCTTGAGGAAAGTGGGGGCTCAGAGCCAGAGTTCATTTCATTTACAAAAACAGAAATGTGATGTTTCTTGGAACCAAAGCTATGGAAACTCATGTGAACACACTAACGATTTATTATGCTTAAATCATCTTTATTCAGCTCAGGGGTGGGGTGGCTGGGAGCATGAACTTCAGGTCCAGGAAGATGGGTTTGGATCCAGTCTTTGCCATTTGCTCTCTGAAATAACACTCAAAACATTTCACTCCTCTAAGCTTCAGTGTCCTTATAAAAAATTGGGTAAACAATACTGGTCCCGTGACATTGTGTAAAGATTGAATAGTACATAATAAACTGTATTAAAAGATTTTGTCAAGGTGTGTGGCACATGGTATGTGCTCGGTCAATAGCCTTTGTGTGTAGTAACGGCTCTGGTAGTAATTTTGCTAGCTGGAGAGATGGTAATAATTGTGACAGCAACAAGTATTTTTATCCCCATTTCACAGATGAAGATATAGGCTCAGGGAAAATAAATAAATATCCCCAAGAGTCACCGGGTACTGTGCCCACCCCAAGACACATCCTAAGACCTGGCACATGTTAATTTTAATGATTATCTGGGTGAATGTATTAATAAAAGGGGAAAGTGGAGCCGGTGGCATGGGGGGTGGTGTGAATGCCCACCGAGGTCTGAAGTGGGGTGCAGATTTGTTCATCAGCAGAAAGTTACTCGGGTCATGTCTGCAGTGGGGGGCTCTTCCCTAGAGGCCTTGGCCGGCTGCCTCCAGGTCAGGGGGCTGAGTTGGCATCCAAAGACTCAAAGGAGTGAATCGTACATGTCAGTCACAGGGTTGGCTTGGGCACCACCGTGCTGGGGCACCACTGGGCCCTCTGACCACCTGGAGAGCCTGACCAGGCCTGCCACAGAGACCTCAGAGTGCCAGAGAATCTCCACTGTGTCCTTAGCTCCACACAGTCAGGGCTTCCCTGAAATCTGCCTCTCTCTGTCATTATGCTTGGCCGGTACTGCTCATCCTGATGGCACTGGGCAGGCAGTGGGCTGCAGAGGCAGAGCTGAGGGGACCAGGAGGCAGGCACTCTGTGTGACTTTGGAGGATCCTTCTACCCCAAGGCCTCACTGCTGCCATCTGTAAGTGAAGGAACTGGACCAGATGGGGAATAAGGAGGCCTCCATCTCATGCCAAAGGCCAAGGCTAGGAGTGGCTGCCTGGGGTGCAGTGCTGGGATGGTTTGCAAGGGGAGTGTCAAGGCTGGTCAGTGATTATGGGGAAGAGTCAGGGCCCATCAGGGGAATGAAGTGGCTAAGGGTGCCTCCAGCTCTAATAGCCACAAGTGAATTCTGTTGAAAGGGAGTTCTAGCATCTCACAGACCAAGTGGATCCTGGGGATGGAAACTGAAGGCCAGACAGGATCCTCCCTGTCCCATGGCCTAAATGCCTCTCAGAACTCACAGATGGTCAGTCGGGAGTACAGGCAGTTCCTGTCATTCCACTGCCCATCTGTGTACATCTCCACACACTGCTCTTTTCCCCGACCTGCAGGCTCCCCTCGGTACCAGTTGGTGTAGTTTACAGGGGTCCCATCTGAGTAGCGGAAGTCTCCAGGGCTGGGACCCTCAGTCAGGCCTACATAGGCATATGTGTTGTACTTCTTCACGAAGCTTGCAATGGCCTCATTTTCCTCTGGATTCCTTGGGACAGCAATGCGGCCGCCTGCTCTGGCACATGCCTCCTGAATGGCATCAAAAGTGATGGACTGCCCATTGCTGGAGAAGACCTTCTCTCCTACTGTCATTATGGAGCCCTGCAGACTGAGGGCTGAGAGCAGAGGAGTCCAGGTCAGGCCACTGACCACTTTGTCTCTAAGCCACCTCCCTCACCTAGGGTCTCTGCTACCAGATTCTCCCCAGTCTCTCCATCTCTGCCTCTCTCTGTGTCTTCTCTTCCTCTTCCAATTGCAGTTTTCTAAATTCACTTTTAGACTCTCCTCCATTTATTCATTCATCTAAGTAACAATTACTTATTGCCAGAAATGGTGCAATTTCCTAGGATTCAGTGGAAAGCAAGACAGGCAGAGAACTTGCTTTCTTATGAAATGGGGAGTGAATTGTGTCTGCTTGTCTCCTCTTGGCCATTCAAAGACATCAGAAAAGCAAGCATCATTCCTTTCCCCAACACCTGCATGTGCACGCTTGTTTGTCATCTCTATTCTAGAAGGTGGTGCTGAGAATGAGGGGAATTTGTGGGAAACTCCTACCCCGTGAGGCCCAGGGGGTCCCCTTACCTCCCCTTGTCTGCAGGATTTGATGTCTGAAGTCGTGGAGTGTGGCTTGGAGCTCCTCATCTAGATGAGCTGGAAGCCCTGTGGAGAGTGCCCCACACAGAAGGAGGGGCAGGCCAGTGAAGACTCCCACTTGCTGCCACGCAGGCGTTTTGCCATCTGCAATCCTGGAACTCTGCCCTTTCATTGCTGTTAGGCACCACCCAGACCCTAGGCTCAGAGGGTCCACGAGATTCCAGTGTGTCTCCACACCCCGTGGTCCCCTATTCTTTAGTGAAGCCTTGCCCCTGCTGAGACCCCCACCCCTTGTCCTCTTTCCTGCTCTGTCCCTCGAGGGGTTCTGTCTGCCCGCCTCTGTGGGGCAAGTCCCTCTCCCGCACCCTCCACCAAGGGCAAGCATGATGCTCTCTGCACTGCCCTGATGGACTTGCTTACCGCTCTGAGCTTCAAAGTTCCCCTCTGTCTGTGGGGCTCCTGATCACACCATCTGCCTGGATGCCTCGTCCGCATTCACCCTTCAGACTGCCCCCAGGGCCTCCATCCCAGGACATGCCTCCCCTGCCTCCCAGTGCTGTCCCTCGTCCCACACCTGACTCAGTGTGTCCCCATCAGCGGTCATGAGGCACGGAGGACTTCCCACACCTGCCCTTCTCTGAATTGTGACCACACTCCCCAGACACCTCGGCTTTCTCCCTCAAATTCATATTCTCTTACTTAGGTTGAGCCAAATGCCCTTGGGGAACCTGCAGGGTTTGTCTGACCCCCATCACCCCTGTGTAACTGACTTCAGGTCGCTGTGCCCATGTTTCCACTGCCCACCTGCCCCGCCCTGCTCACCTGGAGGGCCTCTCTCGCCAGCCTCCCCCTTCTCTCCACGCTCTCCAGGGACACCAGGGGCTCCAGGCAGCCCATTATTCCCAGGAGGACATGGTGTTTCTCCAGGCGGACCCATGGGGCCTGCAGAGAAAAGAGACATGGATGTGTAGGATCTGTCACCCACAACTGGTTGGAGCTAGTGAGACTCGATGCCCATTATCACCGGGGCTGGCTCAGCTATCACTCCGTGGGCACTATGAGGACAGACTCTCCAGGATGCGCCATCATAAGGGCCCCAGGAACCCACCACCCCTGCAGACTGAAGTCCCACCCAGCTTACTATAGCCCCCAGCTCACTATGGCCCACAGCCTAGGGGCCTGGACAGATGGGCCTCCTGAAAAGGGGTCTGTGTCCCTCAGCTGAGGGTGGGGTCTGCAGCAC
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TGGGTCCCAAGCACATGTGGAATGGTGACCAGATTAAAAATTATCATTCAGAAAAGAATCAGAAATTATTCCCCTCATTCTCATCTGATTTTGTGGGTCTTGATCCAGAGCTTGCCTCTGCCCAAGAAAAGCAGTAAATCCACGAGAGAGAGTGTTCGCAGGTGTGAGGGTGGGAGTAGTGGGAGCCTTTCTGGAGGTGGGACACATACGTGGCTGCCTCCTCAAGCAATTGGGGACATTGTCTCAATCCTGCACAGCCCTGGGGTATGGGGCAGTGGTCCCATTTCAAGCCGACATGAGACTAGGATGGCTCACTGAGGCCTGGAACTGAGCCCTGAGTGCCAACATCACTGCTGGGCTGCAGAAATCATTCAGGTGGCTGCGCAGAGGACGGAAGGCATTATATCCCCACCCACAAATGCACCACATGGATTCAAGATGCCCATGTGTTCTTCCAAATGGTGTCTGTAGCTCCCCAACCTCCAGCAGCATCATAGCGAGGAGAGCAGGTTGCCCCTCCCATCAAACAAAGAAAGCACATCCTGAGATTGAATTTTCCAATCTTGAGGAAAGTGGGGGCTCAGAGCCAGAGTTCATTTCATTTACAAAAACAGAAATGTGATGTTTCTTGGAACCAAAGCTATGGAAACTCATGTGAACACACTAACGATTTATTATGCTTAAATCATCTTTATTCAGCTCAGGGGTGGGGTGGCTGGGAGCATGAACTTCAGGTCCAGGAAGATGGGTTTGGATCCAGTCTTTGCCATTTGCTCTCTGAAATAACACTCAAAACATTTCACTCCTCTAAGCTTCAGTGTCCTTATAAAAAATTGGGTAAACAATACTGGTCCCGTGACATTGTGTAAAGATTGAATAGTACATAATAAACTGTATTAAAAGATTTTGTCAAGGTGTGTGGCACATGGTATGTGCTCGGTCAATAGCCTTTGTGTGTAGTAACGGCTCTGGTAGTAATTTTGCTAGCTGGAGAGATGGTAATAATTGTGACAGCAACAAGTATTTTTATCCCCATTTCACAGATGAAGATATAGGCTCAGGGAAAATAAATAAATATCCCCAAGAGTCACCGGGTACTGTGCCCACCCCAAGACACATCCTAAGACCTGGCACATGTTAATTTTAATGATTATCTGGGTGAATGTATTAATAAAAGGGGAAAGTGGAGCCGGTGGCATGGGGGGTGGTGTGAATGCCCACCGAGGTCTGAAGTGGGGTGCAGATTTGTTCATCAGCAGAAAGTTACTCGGGTCATGTCTGCAGTGGGGGGCTCTTCCCTAGAGGCCTTGGCCGGCTGCCTCCAGGTCAGGGGGCTGAGTTGGCATCCAAAGACTCAAAGGAGTGAATCGTACATGTCAGTCACAGGGTTGGCTTGGGCACCACCGTGCTGGGGCACCACTGGGCCCTCTGACCACCTGGAGAGCCTGACCAGGCCTGCCACAGAGACCTCAGAGTGCCAGAGAATCTCCACTGTGTCCTTAGCTCCACACAGTCAGGGCTTCCCTGAAATCTGCCTCTCTCTGTCATTATGCTTGGCCGGTACTGCTCATCCTGATGGCACTGGGCAGGCAGTGGGCTGCAGAGGCAGAGCTGAGGGGACCAGGAGGCAGGCACTCTGTGTGACTTTGGAGGATCCTTCTACCCCAAGGCCTCACTGCTGCCATCTGTAAGTGAAGGAACTGGACCAGATGGGGAATAAGGAGGCCTCCATCTCATGCCAAAGGCCAAGGCTAGGAGTGGCTGCCTGGGGTGCAGTGCTGGGATGGTTTGCAAGGGGAGTGTCAAGGCTGGTCAGTGATTATGGGGAAGAGTCAGGGCCCATCAGGGGAATGAAGTGGCTAAGGGTGCCTCCAGCTCTAATAGCCACAAGTGAATTCTGTTGAAAGGGAGTTCTAGCATCTCACAGACCAAGTGGATCCTGGGGATGGAAACTGAAGGCCAGACAGGATCCTCCCTGTCCCATGGCCTAAATGCCTCTCAGAACTCACAGATGGTCAGTCGGGAGTACAGGCAGTTCCTGTCATTCCTCTGCCCATCTGTGTACATCTCCACACACTGCTCTTTTCCCCGACCTGCAGGCTCCCCTCGGTACCAGTTGGTGTAGTTTACAGGGGTCCCATCTGAGTAGCGGAAGTCTCCAGGGCTGGGACCCTCAGTCAGGCCTACATAGGCATATGTGTTGTACTTCTTCACGAAGCTTGCAATGGCCTCATTTTCCTCTGGATTCCTTGGGACAGCAATGCGGCCGCCTGCTCTGGCACATGCCTCCTGAATGGCATCAAAAGTGATGGACTGCCCATTGCTGGAGAAGACCTTCTCTCCTACTGTCATTATGGAGCCCTGCAGACTGAGGGCTGAGAGCAGAGGAGTCCAGGTCAGGCCACTGACCACTTTGTCTCTAAGCCACCTCCCTCACCTAGGGTCTCTGCTACCAGATTCTCCCCAGTCTCTCCATCTCTGCCTCTCTCTGTGTCTTCTCTTCCTCTTCCAATTGCAGTTTTCTAAATTCACTTTTAGACTCTCCTCCATTTATTCATTCATCTAAGTAACAATTACTTATTGCCAGAAATGGTGCAATTTCCTAGGATTCAGTGGAAAGCAAGACAGGCAGAGAACTTGCTTTCTTATGAAATGGGGAGTGAATTGTGTCTGCTTGTCTCCTCTTGGCCATTCAAAGACATCAGAAAAGCAAGCATCATTCCTTTCCCCAACACCTGCATGTGCACGCTTGTTTGTCATCTCTATTCTAGAAGGTGGTGCTGAGAATGAGGGGAATTTGTGGGAAACTCCTACCCCGTGAGGCCCAGGGGGTCCCCTTACCTCCCCTTGTCTGCAGGATTTGATGTCTGAAGTCGTGGAGTGTGGCTTGGAGCTCCTCATCTAGATGAGCTGGAAGCCCTGTGGAGAGTGCCCCACACAGAAGGAGGGGCAGGCCAGTGAAGACTCCCACTTGCTGCCACGCAGGCGTTTTGCCATCTGCAATCCTGGAACTCTGCCCTTTCATTGCTGTTAGGCACCACCCAGACCCTAGGCTCAGAGGGTCCACGAGATTCCAGTGTGTCTCCACACCCCGTGGTCCCCTATTCTTTAGTGAAGCCTTGCCCCTGCTGAGACCCCCACCCCTTGTCCTCTTTCCTGCTCTGTCCCTCGAGGGGTTCTGTCTGCCCGCCTCTGTGGGGCAAGTCCCTCTCCCGCACCCTCCACCAAGGGCAAGCATGATGCTCTCTGCACTGCCCTGATGGACTTGCTTACCGCTCTGAGCTTCAAAGTTCCCCTCTGTCTGTGGGGCTCCTGATCACACCATCTGCCTGGATGCCTCGTCCGCATTCACCCTTCAGACTGCCCCCAGGGCCTCCATCCCAGGACATGCCTCCCCTGCCTCCCAGTGCTGTCCCTCGTCCCACACCTGACTCAGTGTGTCCCCATCAGCGGTCATGAGGCACGGAGGACTTCCCACACCTGCCCTTCTCTGAATTGTGACCACACTCCCCAGACACCTCGGCTTTCTCCCTCAAATTCATATTCTCTTACTTAGGTTGAGCCAAATGCCCTTGGGGAACCTGCAGGGTTTGTCTGACCCCCATCACCCCTGTGTAACTGACTTCAGGTCGCTGTGCCCATGTTTCCACTGCCCACCTGCCCCGCCCTGCTCACCTGGAGGGCCTCTCTCGCCAGCCTCCCCCTTCTCTCCACGCTCTCCAGGGACACCAGGGGCTCCAGGCAGCCCATTATTCCCAGGAGGACATGGTGTTTCTCCAGGCGGACCCATGGGGCCTGCAGAGAAAAGAGACATGGATGTGTAGGATCTGTCACCCACAACTGGTTGGAGCTAGTGAGACTCGATGCCCATTATCACCGGGGCTGGCTCAGCTATCACTCCGTGGGCACTATGAGGACAGACTCTCCAGGATGCGCCATCATAAGGGCCCCAGGAACCCACCACCCCTGCAGACTGAAGTCCCACCCAGCTTACTATAGCCCCCAGCTCACTATGGCCCACAGCCTAGGGGCCTGGACAGATGGGCCTCCTGAAAAGGGGTCTGTGTCCCTCAGCTGAGGGTGGGGTCTGCAGCAC
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Task1_train_14096
|
Chromosome 10 houses a mutation in gene SFTPA2 (surfactant protein A2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Interstitial lung disease 2
|
CCAGAGCTTGCCTCTGCCCAAGAAAAGCAGTAAATCCACGAGAGAGAGTGTTCGCAGGTGTGAGGGTGGGAGTAGTGGGAGCCTTTCTGGAGGTGGGACACATACGTGGCTGCCTCCTCAAGCAATTGGGGACATTGTCTCAATCCTGCACAGCCCTGGGGTATGGGGCAGTGGTCCCATTTCAAGCCGACATGAGACTAGGATGGCTCACTGAGGCCTGGAACTGAGCCCTGAGTGCCAACATCACTGCTGGGCTGCAGAAATCATTCAGGTGGCTGCGCAGAGGACGGAAGGCATTATATCCCCACCCACAAATGCACCACATGGATTCAAGATGCCCATGTGTTCTTCCAAATGGTGTCTGTAGCTCCCCAACCTCCAGCAGCATCATAGCGAGGAGAGCAGGTTGCCCCTCCCATCAAACAAAGAAAGCACATCCTGAGATTGAATTTTCCAATCTTGAGGAAAGTGGGGGCTCAGAGCCAGAGTTCATTTCATTTACAAAAACAGAAATGTGATGTTTCTTGGAACCAAAGCTATGGAAACTCATGTGAACACACTAACGATTTATTATGCTTAAATCATCTTTATTCAGCTCAGGGGTGGGGTGGCTGGGAGCATGAACTTCAGGTCCAGGAAGATGGGTTTGGATCCAGTCTTTGCCATTTGCTCTCTGAAATAACACTCAAAACATTTCACTCCTCTAAGCTTCAGTGTCCTTATAAAAAATTGGGTAAACAATACTGGTCCCGTGACATTGTGTAAAGATTGAATAGTACATAATAAACTGTATTAAAAGATTTTGTCAAGGTGTGTGGCACATGGTATGTGCTCGGTCAATAGCCTTTGTGTGTAGTAACGGCTCTGGTAGTAATTTTGCTAGCTGGAGAGATGGTAATAATTGTGACAGCAACAAGTATTTTTATCCCCATTTCACAGATGAAGATATAGGCTCAGGGAAAATAAATAAATATCCCCAAGAGTCACCGGGTACTGTGCCCACCCCAAGACACATCCTAAGACCTGGCACATGTTAATTTTAATGATTATCTGGGTGAATGTATTAATAAAAGGGGAAAGTGGAGCCGGTGGCATGGGGGGTGGTGTGAATGCCCACCGAGGTCTGAAGTGGGGTGCAGATTTGTTCATCAGCAGAAAGTTACTCGGGTCATGTCTGCAGTGGGGGGCTCTTCCCTAGAGGCCTTGGCCGGCTGCCTCCAGGTCAGGGGGCTGAGTTGGCATCCAAAGACTCAAAGGAGTGAATCGTACATGTCAGTCACAGGGTTGGCTTGGGCACCACCGTGCTGGGGCACCACTGGGCCCTCTGACCACCTGGAGAGCCTGACCAGGCCTGCCACAGAGACCTCAGAGTGCCAGAGAATCTCCACTGTGTCCTTAGCTCCACACAGTCAGGGCTTCCCTGAAATCTGCCTCTCTCTGTCATTATGCTTGGCCGGTACTGCTCATCCTGATGGCACTGGGCAGGCAGTGGGCTGCAGAGGCAGAGCTGAGGGGACCAGGAGGCAGGCACTCTGTGTGACTTTGGAGGATCCTTCTACCCCAAGGCCTCACTGCTGCCATCTGTAAGTGAAGGAACTGGACCAGATGGGGAATAAGGAGGCCTCCATCTCATGCCAAAGGCCAAGGCTAGGAGTGGCTGCCTGGGGTGCAGTGCTGGGATGGTTTGCAAGGGGAGTGTCAAGGCTGGTCAGTGATTATGGGGAAGAGTCAGGGCCCATCAGGGGAATGAAGTGGCTAAGGGTGCCTCCAGCTCTAATAGCCACAAGTGAATTCTGTTGAAAGGGAGTTCTAGCATCTCACAGACCAAGTGGATCCTGGGGATGGAAACTGAAGGCCAGACAGGATCCTCCCTGTCCCATGGCCTAAATGCCTCTCAGAACTCACAGATGGTCAGTCGGGAGTACAGGCAGTTCCTGTCATTCCACTGCCCATCTGTGTACATCTCCACACACTGCTCTTTTCCCCGACCTGCAGGCTCCCCTCGGTACCAGTTGGTGTAGTTTACAGGGGTCCCATCTGAGTAGCGGAAGTCTCCAGGGCTGGGACCCTCAGTCAGGCCTACATAGGCATATGTGTTGTACTTCTTCACGAAGCTTGCAATGGCCTCATTTTCCTCTGGATTCCTTGGGACAGCAATGCGGCCGCCTGCTCTGGCACATGCCTCCTGAATGGCATCAAAAGTGATGGACTGCCCATTGCTGGAGAAGACCTTCTCTCCTACTGTCATTATGGAGCCCTGCAGACTGAGGGCTGAGAGCAGAGGAGTCCAGGTCAGGCCACTGACCACTTTGTCTCTAAGCCACCTCCCTCACCTAGGGTCTCTGCTACCAGATTCTCCCCAGTCTCTCCATCTCTGCCTCTCTCTGTGTCTTCTCTTCCTCTTCCAATTGCAGTTTTCTAAATTCACTTTTAGACTCTCCTCCATTTATTCATTCATCTAAGTAACAATTACTTATTGCCAGAAATGGTGCAATTTCCTAGGATTCAGTGGAAAGCAAGACAGGCAGAGAACTTGCTTTCTTATGAAATGGGGAGTGAATTGTGTCTGCTTGTCTCCTCTTGGCCATTCAAAGACATCAGAAAAGCAAGCATCATTCCTTTCCCCAACACCTGCATGTGCACGCTTGTTTGTCATCTCTATTCTAGAAGGTGGTGCTGAGAATGAGGGGAATTTGTGGGAAACTCCTACCCCGTGAGGCCCAGGGGGTCCCCTTACCTCCCCTTGTCTGCAGGATTTGATGTCTGAAGTCGTGGAGTGTGGCTTGGAGCTCCTCATCTAGATGAGCTGGAAGCCCTGTGGAGAGTGCCCCACACAGAAGGAGGGGCAGGCCAGTGAAGACTCCCACTTGCTGCCACGCAGGCGTTTTGCCATCTGCAATCCTGGAACTCTGCCCTTTCATTGCTGTTAGGCACCACCCAGACCCTAGGCTCAGAGGGTCCACGAGATTCCAGTGTGTCTCCACACCCCGTGGTCCCCTATTCTTTAGTGAAGCCTTGCCCCTGCTGAGACCCCCACCCCTTGTCCTCTTTCCTGCTCTGTCCCTCGAGGGGTTCTGTCTGCCCGCCTCTGTGGGGCAAGTCCCTCTCCCGCACCCTCCACCAAGGGCAAGCATGATGCTCTCTGCACTGCCCTGATGGACTTGCTTACCGCTCTGAGCTTCAAAGTTCCCCTCTGTCTGTGGGGCTCCTGATCACACCATCTGCCTGGATGCCTCGTCCGCATTCACCCTTCAGACTGCCCCCAGGGCCTCCATCCCAGGACATGCCTCCCCTGCCTCCCAGTGCTGTCCCTCGTCCCACACCTGACTCAGTGTGTCCCCATCAGCGGTCATGAGGCACGGAGGACTTCCCACACCTGCCCTTCTCTGAATTGTGACCACACTCCCCAGACACCTCGGCTTTCTCCCTCAAATTCATATTCTCTTACTTAGGTTGAGCCAAATGCCCTTGGGGAACCTGCAGGGTTTGTCTGACCCCCATCACCCCTGTGTAACTGACTTCAGGTCGCTGTGCCCATGTTTCCACTGCCCACCTGCCCCGCCCTGCTCACCTGGAGGGCCTCTCTCGCCAGCCTCCCCCTTCTCTCCACGCTCTCCAGGGACACCAGGGGCTCCAGGCAGCCCATTATTCCCAGGAGGACATGGTGTTTCTCCAGGCGGACCCATGGGGCCTGCAGAGAAAAGAGACATGGATGTGTAGGATCTGTCACCCACAACTGGTTGGAGCTAGTGAGACTCGATGCCCATTATCACCGGGGCTGGCTCAGCTATCACTCCGTGGGCACTATGAGGACAGACTCTCCAGGATGCGCCATCATAAGGGCCCCAGGAACCCACCACCCCTGCAGACTGAAGTCCCACCCAGCTTACTATAGCCCCCAGCTCACTATGGCCCACAGCCTAGGGGCCTGGACAGATGGGCCTCCTGAAAAGGGGTCTGTGTCCCTCAGCTGAGGGTGGGGTCTGCAGCACAGTACCTGGAGGGCCAGGGTCTCCTTTGACACCATCTCTCCCGTCCCTGCCTGGCAGGCCGTGGGATCCAGGAGTGCCGGGGATACCAGGGCTTCCAACACAAA
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CCAGAGCTTGCCTCTGCCCAAGAAAAGCAGTAAATCCACGAGAGAGAGTGTTCGCAGGTGTGAGGGTGGGAGTAGTGGGAGCCTTTCTGGAGGTGGGACACATACGTGGCTGCCTCCTCAAGCAATTGGGGACATTGTCTCAATCCTGCACAGCCCTGGGGTATGGGGCAGTGGTCCCATTTCAAGCCGACATGAGACTAGGATGGCTCACTGAGGCCTGGAACTGAGCCCTGAGTGCCAACATCACTGCTGGGCTGCAGAAATCATTCAGGTGGCTGCGCAGAGGACGGAAGGCATTATATCCCCACCCACAAATGCACCACATGGATTCAAGATGCCCATGTGTTCTTCCAAATGGTGTCTGTAGCTCCCCAACCTCCAGCAGCATCATAGCGAGGAGAGCAGGTTGCCCCTCCCATCAAACAAAGAAAGCACATCCTGAGATTGAATTTTCCAATCTTGAGGAAAGTGGGGGCTCAGAGCCAGAGTTCATTTCATTTACAAAAACAGAAATGTGATGTTTCTTGGAACCAAAGCTATGGAAACTCATGTGAACACACTAACGATTTATTATGCTTAAATCATCTTTATTCAGCTCAGGGGTGGGGTGGCTGGGAGCATGAACTTCAGGTCCAGGAAGATGGGTTTGGATCCAGTCTTTGCCATTTGCTCTCTGAAATAACACTCAAAACATTTCACTCCTCTAAGCTTCAGTGTCCTTATAAAAAATTGGGTAAACAATACTGGTCCCGTGACATTGTGTAAAGATTGAATAGTACATAATAAACTGTATTAAAAGATTTTGTCAAGGTGTGTGGCACATGGTATGTGCTCGGTCAATAGCCTTTGTGTGTAGTAACGGCTCTGGTAGTAATTTTGCTAGCTGGAGAGATGGTAATAATTGTGACAGCAACAAGTATTTTTATCCCCATTTCACAGATGAAGATATAGGCTCAGGGAAAATAAATAAATATCCCCAAGAGTCACCGGGTACTGTGCCCACCCCAAGACACATCCTAAGACCTGGCACATGTTAATTTTAATGATTATCTGGGTGAATGTATTAATAAAAGGGGAAAGTGGAGCCGGTGGCATGGGGGGTGGTGTGAATGCCCACCGAGGTCTGAAGTGGGGTGCAGATTTGTTCATCAGCAGAAAGTTACTCGGGTCATGTCTGCAGTGGGGGGCTCTTCCCTAGAGGCCTTGGCCGGCTGCCTCCAGGTCAGGGGGCTGAGTTGGCATCCAAAGACTCAAAGGAGTGAATCGTACATGTCAGTCACAGGGTTGGCTTGGGCACCACCGTGCTGGGGCACCACTGGGCCCTCTGACCACCTGGAGAGCCTGACCAGGCCTGCCACAGAGACCTCAGAGTGCCAGAGAATCTCCACTGTGTCCTTAGCTCCACACAGTCAGGGCTTCCCTGAAATCTGCCTCTCTCTGTCATTATGCTTGGCCGGTACTGCTCATCCTGATGGCACTGGGCAGGCAGTGGGCTGCAGAGGCAGAGCTGAGGGGACCAGGAGGCAGGCACTCTGTGTGACTTTGGAGGATCCTTCTACCCCAAGGCCTCACTGCTGCCATCTGTAAGTGAAGGAACTGGACCAGATGGGGAATAAGGAGGCCTCCATCTCATGCCAAAGGCCAAGGCTAGGAGTGGCTGCCTGGGGTGCAGTGCTGGGATGGTTTGCAAGGGGAGTGTCAAGGCTGGTCAGTGATTATGGGGAAGAGTCAGGGCCCATCAGGGGAATGAAGTGGCTAAGGGTGCCTCCAGCTCTAATAGCCACAAGTGAATTCTGTTGAAAGGGAGTTCTAGCATCTCACAGACCAAGTGGATCCTGGGGATGGAAACTGAAGGCCAGACAGGATCCTCCCTGTCCCATGGCCTAAATGCCTCTCAGAACTCACAGATGGTCAGTCGGGAGTACAGGCAGTTCCTGTCATTCCACTGCCCATCTGTGTACATCTCCACACACTGCTCTTTTCCCCGACCTGCAGGCTCCCCTCGGTACCAGTTGGTGTAGTTTACAGGGGTCCCATCTGAGTAGCGGGAGTCTCCAGGGCTGGGACCCTCAGTCAGGCCTACATAGGCATATGTGTTGTACTTCTTCACGAAGCTTGCAATGGCCTCATTTTCCTCTGGATTCCTTGGGACAGCAATGCGGCCGCCTGCTCTGGCACATGCCTCCTGAATGGCATCAAAAGTGATGGACTGCCCATTGCTGGAGAAGACCTTCTCTCCTACTGTCATTATGGAGCCCTGCAGACTGAGGGCTGAGAGCAGAGGAGTCCAGGTCAGGCCACTGACCACTTTGTCTCTAAGCCACCTCCCTCACCTAGGGTCTCTGCTACCAGATTCTCCCCAGTCTCTCCATCTCTGCCTCTCTCTGTGTCTTCTCTTCCTCTTCCAATTGCAGTTTTCTAAATTCACTTTTAGACTCTCCTCCATTTATTCATTCATCTAAGTAACAATTACTTATTGCCAGAAATGGTGCAATTTCCTAGGATTCAGTGGAAAGCAAGACAGGCAGAGAACTTGCTTTCTTATGAAATGGGGAGTGAATTGTGTCTGCTTGTCTCCTCTTGGCCATTCAAAGACATCAGAAAAGCAAGCATCATTCCTTTCCCCAACACCTGCATGTGCACGCTTGTTTGTCATCTCTATTCTAGAAGGTGGTGCTGAGAATGAGGGGAATTTGTGGGAAACTCCTACCCCGTGAGGCCCAGGGGGTCCCCTTACCTCCCCTTGTCTGCAGGATTTGATGTCTGAAGTCGTGGAGTGTGGCTTGGAGCTCCTCATCTAGATGAGCTGGAAGCCCTGTGGAGAGTGCCCCACACAGAAGGAGGGGCAGGCCAGTGAAGACTCCCACTTGCTGCCACGCAGGCGTTTTGCCATCTGCAATCCTGGAACTCTGCCCTTTCATTGCTGTTAGGCACCACCCAGACCCTAGGCTCAGAGGGTCCACGAGATTCCAGTGTGTCTCCACACCCCGTGGTCCCCTATTCTTTAGTGAAGCCTTGCCCCTGCTGAGACCCCCACCCCTTGTCCTCTTTCCTGCTCTGTCCCTCGAGGGGTTCTGTCTGCCCGCCTCTGTGGGGCAAGTCCCTCTCCCGCACCCTCCACCAAGGGCAAGCATGATGCTCTCTGCACTGCCCTGATGGACTTGCTTACCGCTCTGAGCTTCAAAGTTCCCCTCTGTCTGTGGGGCTCCTGATCACACCATCTGCCTGGATGCCTCGTCCGCATTCACCCTTCAGACTGCCCCCAGGGCCTCCATCCCAGGACATGCCTCCCCTGCCTCCCAGTGCTGTCCCTCGTCCCACACCTGACTCAGTGTGTCCCCATCAGCGGTCATGAGGCACGGAGGACTTCCCACACCTGCCCTTCTCTGAATTGTGACCACACTCCCCAGACACCTCGGCTTTCTCCCTCAAATTCATATTCTCTTACTTAGGTTGAGCCAAATGCCCTTGGGGAACCTGCAGGGTTTGTCTGACCCCCATCACCCCTGTGTAACTGACTTCAGGTCGCTGTGCCCATGTTTCCACTGCCCACCTGCCCCGCCCTGCTCACCTGGAGGGCCTCTCTCGCCAGCCTCCCCCTTCTCTCCACGCTCTCCAGGGACACCAGGGGCTCCAGGCAGCCCATTATTCCCAGGAGGACATGGTGTTTCTCCAGGCGGACCCATGGGGCCTGCAGAGAAAAGAGACATGGATGTGTAGGATCTGTCACCCACAACTGGTTGGAGCTAGTGAGACTCGATGCCCATTATCACCGGGGCTGGCTCAGCTATCACTCCGTGGGCACTATGAGGACAGACTCTCCAGGATGCGCCATCATAAGGGCCCCAGGAACCCACCACCCCTGCAGACTGAAGTCCCACCCAGCTTACTATAGCCCCCAGCTCACTATGGCCCACAGCCTAGGGGCCTGGACAGATGGGCCTCCTGAAAAGGGGTCTGTGTCCCTCAGCTGAGGGTGGGGTCTGCAGCACAGTACCTGGAGGGCCAGGGTCTCCTTTGACACCATCTCTCCCGTCCCTGCCTGGCAGGCCGTGGGATCCAGGAGTGCCGGGGATACCAGGGCTTCCAACACAAA
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Task1_train_14097
|
The gene SFTPA2 (surfactant protein A2) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Interstitial lung disease 2
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CCTTTCTGGAGGTGGGACACATACGTGGCTGCCTCCTCAAGCAATTGGGGACATTGTCTCAATCCTGCACAGCCCTGGGGTATGGGGCAGTGGTCCCATTTCAAGCCGACATGAGACTAGGATGGCTCACTGAGGCCTGGAACTGAGCCCTGAGTGCCAACATCACTGCTGGGCTGCAGAAATCATTCAGGTGGCTGCGCAGAGGACGGAAGGCATTATATCCCCACCCACAAATGCACCACATGGATTCAAGATGCCCATGTGTTCTTCCAAATGGTGTCTGTAGCTCCCCAACCTCCAGCAGCATCATAGCGAGGAGAGCAGGTTGCCCCTCCCATCAAACAAAGAAAGCACATCCTGAGATTGAATTTTCCAATCTTGAGGAAAGTGGGGGCTCAGAGCCAGAGTTCATTTCATTTACAAAAACAGAAATGTGATGTTTCTTGGAACCAAAGCTATGGAAACTCATGTGAACACACTAACGATTTATTATGCTTAAATCATCTTTATTCAGCTCAGGGGTGGGGTGGCTGGGAGCATGAACTTCAGGTCCAGGAAGATGGGTTTGGATCCAGTCTTTGCCATTTGCTCTCTGAAATAACACTCAAAACATTTCACTCCTCTAAGCTTCAGTGTCCTTATAAAAAATTGGGTAAACAATACTGGTCCCGTGACATTGTGTAAAGATTGAATAGTACATAATAAACTGTATTAAAAGATTTTGTCAAGGTGTGTGGCACATGGTATGTGCTCGGTCAATAGCCTTTGTGTGTAGTAACGGCTCTGGTAGTAATTTTGCTAGCTGGAGAGATGGTAATAATTGTGACAGCAACAAGTATTTTTATCCCCATTTCACAGATGAAGATATAGGCTCAGGGAAAATAAATAAATATCCCCAAGAGTCACCGGGTACTGTGCCCACCCCAAGACACATCCTAAGACCTGGCACATGTTAATTTTAATGATTATCTGGGTGAATGTATTAATAAAAGGGGAAAGTGGAGCCGGTGGCATGGGGGGTGGTGTGAATGCCCACCGAGGTCTGAAGTGGGGTGCAGATTTGTTCATCAGCAGAAAGTTACTCGGGTCATGTCTGCAGTGGGGGGCTCTTCCCTAGAGGCCTTGGCCGGCTGCCTCCAGGTCAGGGGGCTGAGTTGGCATCCAAAGACTCAAAGGAGTGAATCGTACATGTCAGTCACAGGGTTGGCTTGGGCACCACCGTGCTGGGGCACCACTGGGCCCTCTGACCACCTGGAGAGCCTGACCAGGCCTGCCACAGAGACCTCAGAGTGCCAGAGAATCTCCACTGTGTCCTTAGCTCCACACAGTCAGGGCTTCCCTGAAATCTGCCTCTCTCTGTCATTATGCTTGGCCGGTACTGCTCATCCTGATGGCACTGGGCAGGCAGTGGGCTGCAGAGGCAGAGCTGAGGGGACCAGGAGGCAGGCACTCTGTGTGACTTTGGAGGATCCTTCTACCCCAAGGCCTCACTGCTGCCATCTGTAAGTGAAGGAACTGGACCAGATGGGGAATAAGGAGGCCTCCATCTCATGCCAAAGGCCAAGGCTAGGAGTGGCTGCCTGGGGTGCAGTGCTGGGATGGTTTGCAAGGGGAGTGTCAAGGCTGGTCAGTGATTATGGGGAAGAGTCAGGGCCCATCAGGGGAATGAAGTGGCTAAGGGTGCCTCCAGCTCTAATAGCCACAAGTGAATTCTGTTGAAAGGGAGTTCTAGCATCTCACAGACCAAGTGGATCCTGGGGATGGAAACTGAAGGCCAGACAGGATCCTCCCTGTCCCATGGCCTAAATGCCTCTCAGAACTCACAGATGGTCAGTCGGGAGTACAGGCAGTTCCTGTCATTCCACTGCCCATCTGTGTACATCTCCACACACTGCTCTTTTCCCCGACCTGCAGGCTCCCCTCGGTACCAGTTGGTGTAGTTTACAGGGGTCCCATCTGAGTAGCGGAAGTCTCCAGGGCTGGGACCCTCAGTCAGGCCTACATAGGCATATGTGTTGTACTTCTTCACGAAGCTTGCAATGGCCTCATTTTCCTCTGGATTCCTTGGGACAGCAATGCGGCCGCCTGCTCTGGCACATGCCTCCTGAATGGCATCAAAAGTGATGGACTGCCCATTGCTGGAGAAGACCTTCTCTCCTACTGTCATTATGGAGCCCTGCAGACTGAGGGCTGAGAGCAGAGGAGTCCAGGTCAGGCCACTGACCACTTTGTCTCTAAGCCACCTCCCTCACCTAGGGTCTCTGCTACCAGATTCTCCCCAGTCTCTCCATCTCTGCCTCTCTCTGTGTCTTCTCTTCCTCTTCCAATTGCAGTTTTCTAAATTCACTTTTAGACTCTCCTCCATTTATTCATTCATCTAAGTAACAATTACTTATTGCCAGAAATGGTGCAATTTCCTAGGATTCAGTGGAAAGCAAGACAGGCAGAGAACTTGCTTTCTTATGAAATGGGGAGTGAATTGTGTCTGCTTGTCTCCTCTTGGCCATTCAAAGACATCAGAAAAGCAAGCATCATTCCTTTCCCCAACACCTGCATGTGCACGCTTGTTTGTCATCTCTATTCTAGAAGGTGGTGCTGAGAATGAGGGGAATTTGTGGGAAACTCCTACCCCGTGAGGCCCAGGGGGTCCCCTTACCTCCCCTTGTCTGCAGGATTTGATGTCTGAAGTCGTGGAGTGTGGCTTGGAGCTCCTCATCTAGATGAGCTGGAAGCCCTGTGGAGAGTGCCCCACACAGAAGGAGGGGCAGGCCAGTGAAGACTCCCACTTGCTGCCACGCAGGCGTTTTGCCATCTGCAATCCTGGAACTCTGCCCTTTCATTGCTGTTAGGCACCACCCAGACCCTAGGCTCAGAGGGTCCACGAGATTCCAGTGTGTCTCCACACCCCGTGGTCCCCTATTCTTTAGTGAAGCCTTGCCCCTGCTGAGACCCCCACCCCTTGTCCTCTTTCCTGCTCTGTCCCTCGAGGGGTTCTGTCTGCCCGCCTCTGTGGGGCAAGTCCCTCTCCCGCACCCTCCACCAAGGGCAAGCATGATGCTCTCTGCACTGCCCTGATGGACTTGCTTACCGCTCTGAGCTTCAAAGTTCCCCTCTGTCTGTGGGGCTCCTGATCACACCATCTGCCTGGATGCCTCGTCCGCATTCACCCTTCAGACTGCCCCCAGGGCCTCCATCCCAGGACATGCCTCCCCTGCCTCCCAGTGCTGTCCCTCGTCCCACACCTGACTCAGTGTGTCCCCATCAGCGGTCATGAGGCACGGAGGACTTCCCACACCTGCCCTTCTCTGAATTGTGACCACACTCCCCAGACACCTCGGCTTTCTCCCTCAAATTCATATTCTCTTACTTAGGTTGAGCCAAATGCCCTTGGGGAACCTGCAGGGTTTGTCTGACCCCCATCACCCCTGTGTAACTGACTTCAGGTCGCTGTGCCCATGTTTCCACTGCCCACCTGCCCCGCCCTGCTCACCTGGAGGGCCTCTCTCGCCAGCCTCCCCCTTCTCTCCACGCTCTCCAGGGACACCAGGGGCTCCAGGCAGCCCATTATTCCCAGGAGGACATGGTGTTTCTCCAGGCGGACCCATGGGGCCTGCAGAGAAAAGAGACATGGATGTGTAGGATCTGTCACCCACAACTGGTTGGAGCTAGTGAGACTCGATGCCCATTATCACCGGGGCTGGCTCAGCTATCACTCCGTGGGCACTATGAGGACAGACTCTCCAGGATGCGCCATCATAAGGGCCCCAGGAACCCACCACCCCTGCAGACTGAAGTCCCACCCAGCTTACTATAGCCCCCAGCTCACTATGGCCCACAGCCTAGGGGCCTGGACAGATGGGCCTCCTGAAAAGGGGTCTGTGTCCCTCAGCTGAGGGTGGGGTCTGCAGCACAGTACCTGGAGGGCCAGGGTCTCCTTTGACACCATCTCTCCCGTCCCTGCCTGGCAGGCCGTGGGATCCAGGAGTGCCGGGGATACCAGGGCTTCCAACACAAACGTCCTTCACTTCGCACGCAGCACCAGAGGCTGCCATCAAGATGAGGGTGAGGGCCAGAGGGCACAGCCACATGGCTCTGG
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CCTTTCTGGAGGTGGGACACATACGTGGCTGCCTCCTCAAGCAATTGGGGACATTGTCTCAATCCTGCACAGCCCTGGGGTATGGGGCAGTGGTCCCATTTCAAGCCGACATGAGACTAGGATGGCTCACTGAGGCCTGGAACTGAGCCCTGAGTGCCAACATCACTGCTGGGCTGCAGAAATCATTCAGGTGGCTGCGCAGAGGACGGAAGGCATTATATCCCCACCCACAAATGCACCACATGGATTCAAGATGCCCATGTGTTCTTCCAAATGGTGTCTGTAGCTCCCCAACCTCCAGCAGCATCATAGCGAGGAGAGCAGGTTGCCCCTCCCATCAAACAAAGAAAGCACATCCTGAGATTGAATTTTCCAATCTTGAGGAAAGTGGGGGCTCAGAGCCAGAGTTCATTTCATTTACAAAAACAGAAATGTGATGTTTCTTGGAACCAAAGCTATGGAAACTCATGTGAACACACTAACGATTTATTATGCTTAAATCATCTTTATTCAGCTCAGGGGTGGGGTGGCTGGGAGCATGAACTTCAGGTCCAGGAAGATGGGTTTGGATCCAGTCTTTGCCATTTGCTCTCTGAAATAACACTCAAAACATTTCACTCCTCTAAGCTTCAGTGTCCTTATAAAAAATTGGGTAAACAATACTGGTCCCGTGACATTGTGTAAAGATTGAATAGTACATAATAAACTGTATTAAAAGATTTTGTCAAGGTGTGTGGCACATGGTATGTGCTCGGTCAATAGCCTTTGTGTGTAGTAACGGCTCTGGTAGTAATTTTGCTAGCTGGAGAGATGGTAATAATTGTGACAGCAACAAGTATTTTTATCCCCATTTCACAGATGAAGATATAGGCTCAGGGAAAATAAATAAATATCCCCAAGAGTCACCGGGTACTGTGCCCACCCCAAGACACATCCTAAGACCTGGCACATGTTAATTTTAATGATTATCTGGGTGAATGTATTAATAAAAGGGGAAAGTGGAGCCGGTGGCATGGGGGGTGGTGTGAATGCCCACCGAGGTCTGAAGTGGGGTGCAGATTTGTTCATCAGCAGAAAGTTACTCGGGTCATGTCTGCAGTGGGGGGCTCTTCCCTAGAGGCCTTGGCCGGCTGCCTCCAGGTCAGGGGGCTGAGTTGGCATCCAAAGACTCAAAGGAGTGAATCGTACATGTCAGTCACAGGGTTGGCTTGGGCACCACCGTGCTGGGGCACCACTGGGCCCTCTGACCACCTGGAGAGCCTGACCAGGCCTGCCACAGAGACCTCAGAGTGCCAGAGAATCTCCACTGTGTCCTTAGCTCCACACAGTCAGGGCTTCCCTGAAATCTGCCTCTCTCTGTCATTATGCTTGGCCGGTACTGCTCATCCTGATGGCACTGGGCAGGCAGTGGGCTGCAGAGGCAGAGCTGAGGGGACCAGGAGGCAGGCACTCTGTGTGACTTTGGAGGATCCTTCTACCCCAAGGCCTCACTGCTGCCATCTGTAAGTGAAGGAACTGGACCAGATGGGGAATAAGGAGGCCTCCATCTCATGCCAAAGGCCAAGGCTAGGAGTGGCTGCCTGGGGTGCAGTGCTGGGATGGTTTGCAAGGGGAGTGTCAAGGCTGGTCAGTGATTATGGGGAAGAGTCAGGGCCCATCAGGGGAATGAAGTGGCTAAGGGTGCCTCCAGCTCTAATAGCCACAAGTGAATTCTGTTGAAAGGGAGTTCTAGCATCTCACAGACCAAGTGGATCCTGGGGATGGAAACTGAAGGCCAGACAGGATCCTCCCTGTCCCATGGCCTAAATGCCTCTCAGAACTCACAGATGGTCAGTCGGGAGTACAGGCAGTTCCTGTCATTCCACTGCCCATCTGTGTACATCTCCACACACTGCTCTTTTCCCCGACCTGCAGGCTCCCCTCGGTACCAGTTGGTGTAGTTTACAGGGGTCCCATCTGAGTAGCGGAAGTCTCCAGGGCTGGGACCCTCAGTCAGGCCTACATAGGCATATGTGTTGTACTTCTTCACGAAGCTTGCAATGGCCTCAATTTCCTCTGGATTCCTTGGGACAGCAATGCGGCCGCCTGCTCTGGCACATGCCTCCTGAATGGCATCAAAAGTGATGGACTGCCCATTGCTGGAGAAGACCTTCTCTCCTACTGTCATTATGGAGCCCTGCAGACTGAGGGCTGAGAGCAGAGGAGTCCAGGTCAGGCCACTGACCACTTTGTCTCTAAGCCACCTCCCTCACCTAGGGTCTCTGCTACCAGATTCTCCCCAGTCTCTCCATCTCTGCCTCTCTCTGTGTCTTCTCTTCCTCTTCCAATTGCAGTTTTCTAAATTCACTTTTAGACTCTCCTCCATTTATTCATTCATCTAAGTAACAATTACTTATTGCCAGAAATGGTGCAATTTCCTAGGATTCAGTGGAAAGCAAGACAGGCAGAGAACTTGCTTTCTTATGAAATGGGGAGTGAATTGTGTCTGCTTGTCTCCTCTTGGCCATTCAAAGACATCAGAAAAGCAAGCATCATTCCTTTCCCCAACACCTGCATGTGCACGCTTGTTTGTCATCTCTATTCTAGAAGGTGGTGCTGAGAATGAGGGGAATTTGTGGGAAACTCCTACCCCGTGAGGCCCAGGGGGTCCCCTTACCTCCCCTTGTCTGCAGGATTTGATGTCTGAAGTCGTGGAGTGTGGCTTGGAGCTCCTCATCTAGATGAGCTGGAAGCCCTGTGGAGAGTGCCCCACACAGAAGGAGGGGCAGGCCAGTGAAGACTCCCACTTGCTGCCACGCAGGCGTTTTGCCATCTGCAATCCTGGAACTCTGCCCTTTCATTGCTGTTAGGCACCACCCAGACCCTAGGCTCAGAGGGTCCACGAGATTCCAGTGTGTCTCCACACCCCGTGGTCCCCTATTCTTTAGTGAAGCCTTGCCCCTGCTGAGACCCCCACCCCTTGTCCTCTTTCCTGCTCTGTCCCTCGAGGGGTTCTGTCTGCCCGCCTCTGTGGGGCAAGTCCCTCTCCCGCACCCTCCACCAAGGGCAAGCATGATGCTCTCTGCACTGCCCTGATGGACTTGCTTACCGCTCTGAGCTTCAAAGTTCCCCTCTGTCTGTGGGGCTCCTGATCACACCATCTGCCTGGATGCCTCGTCCGCATTCACCCTTCAGACTGCCCCCAGGGCCTCCATCCCAGGACATGCCTCCCCTGCCTCCCAGTGCTGTCCCTCGTCCCACACCTGACTCAGTGTGTCCCCATCAGCGGTCATGAGGCACGGAGGACTTCCCACACCTGCCCTTCTCTGAATTGTGACCACACTCCCCAGACACCTCGGCTTTCTCCCTCAAATTCATATTCTCTTACTTAGGTTGAGCCAAATGCCCTTGGGGAACCTGCAGGGTTTGTCTGACCCCCATCACCCCTGTGTAACTGACTTCAGGTCGCTGTGCCCATGTTTCCACTGCCCACCTGCCCCGCCCTGCTCACCTGGAGGGCCTCTCTCGCCAGCCTCCCCCTTCTCTCCACGCTCTCCAGGGACACCAGGGGCTCCAGGCAGCCCATTATTCCCAGGAGGACATGGTGTTTCTCCAGGCGGACCCATGGGGCCTGCAGAGAAAAGAGACATGGATGTGTAGGATCTGTCACCCACAACTGGTTGGAGCTAGTGAGACTCGATGCCCATTATCACCGGGGCTGGCTCAGCTATCACTCCGTGGGCACTATGAGGACAGACTCTCCAGGATGCGCCATCATAAGGGCCCCAGGAACCCACCACCCCTGCAGACTGAAGTCCCACCCAGCTTACTATAGCCCCCAGCTCACTATGGCCCACAGCCTAGGGGCCTGGACAGATGGGCCTCCTGAAAAGGGGTCTGTGTCCCTCAGCTGAGGGTGGGGTCTGCAGCACAGTACCTGGAGGGCCAGGGTCTCCTTTGACACCATCTCTCCCGTCCCTGCCTGGCAGGCCGTGGGATCCAGGAGTGCCGGGGATACCAGGGCTTCCAACACAAACGTCCTTCACTTCGCACGCAGCACCAGAGGCTGCCATCAAGATGAGGGTGAGGGCCAGAGGGCACAGCCACATGGCTCTGG
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Task1_train_14098
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Gene SFTPA1 (surfactant protein A1), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Interstitial lung disease 1
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AACCTCATCTTGATGGCAGCCTCTGGTGCTGTGTGCGAAGTGAAGGACGTTTGTGTTGGAAGCCCTGGTATCCCCGGCACTCCTGGATCCCACGGCCTGCCAGGCAGGGACGGGAGAGATGGTCTCAAAGGAGACCCTGGCCCTCCAGGTACTGTGCTGCAGACCCCACCCTCAGCTGAGGGACACAGACCCCTTTTCAGGAGGCCCATCTGTCCAGGCCCCTAGGCTGTGGGCCATAGTGAGCTGGGGGCTATAGTAAGCTGGGTGGGACTTCAGTCTGCAGGGCTGGTGGGTTCCTGGGGCCCTTATGATGGCGCATCCTGGAGAGTCTGTCCTCATAGTGCCCACGGAGTGATAGAGTGATAGCTGAGCCAGCCCTGGTGATAATGGGCATCGAGTCTCACTAGCTCCAACCAGTTGTGGGTGACAGATCCTACACATCCATGTCTCTTTTCTCTGCAGGCCCCATGGGTCCACCTGGAGAAATGCCATGTCCTCCTGGAAATGATGGGCTGCCTGGAGCCCCTGGTATCCCTGGAGAGTGTGGAGAGAAGGGGGAGCCTGGCGAGAGGGGCCCTCCAGGTGAGCAGGGTGGGGCAGGTGGGCAGTGGAAACATGGGCACAGCGACCCTGAAGTCAGTTACACGGGGATGATGGGGATCAGACAAACCCTACAGGTTCCCCAAGGGCATTTGGCTCAACCTAAGTAAGAGAGGATAAGCTTGAGGGAGAAAGCTGAGGTGTCTGGGGAGTGTGGTCACAATTCAGGGAAAGGCAGGTGTGGGAAGTCCTCCGTGCCTCATGACCACCGATGGGGACACACTGAGTCAGGTGTGGGATGAGGGACAGCACTGGGAGGCAGGGGAGGCATGTCCTGGGATGGAGGCCCTGGGGGCTGTCTGAAGGGTGAATGCGGACGAGGCATCCAGACAGACGGTGTGATCAGGAGCCCCACAGACAGAGGGGAACTTTGAAGCTCAGAGCGGTAAGCAAGTCCATCAGGGCAGTGCAGAGAGCATCATGCTTGCCCTTGGTGGAGGGTGCGGGAGAGGGACTTGCCCCACAGAGGCGGGCAGACAGAACCCCTCGAGGGACAGAGCAGGAAAGAGGACAAGGGGTGGGGGTCTCAGCAGGGGCAAGGCTTCACTAAAGAATAGGGGACCACGGGGTGTGGAGACACACTGGAATCTTGTGGACCCTCTGAGCCTAGGGTCTGGGTGGCGCCTAACAGCAATGAAAGGGCAGAGTTCCAGGATTGCAGATGGCAAAACACCTGCGTGGCAGCAAGTGGGAGTCTTCACTGGCCTGCCCCTCCTTCTGTGTGGGGCACTCTCCACAGGGCTTCCAGCTCATCTAGATGAGGAGCTCCAAGCCACACTCCACGACTTTAGACATCAAATCCTGCAGACAAGGGGAGGTAAGGGGACCCCCTGGGCCTCACGGGGTAGGAGTTTCCCACAAATTCCCCTCATTCTCAGCACCAGCTTCTAGAACATAGAGATTACAAATAGGCATGCACATGCAGGTCTTGGGGAAAGGAATGACGCTTGCTTTTCTGATGTCTTTGAATGGCCCAGAGGAGACAGAAGCAGACACAATTCACTCCCCATTTCATAGGAAAGCAAGTTCTCCACCTGCCTTGCTTTCCACTGAATTCCAGGAAATTGCACCATTTCTGGCAATAAGTAATTGTTACTTAGGTGAATGAATAAATGGAGGAGAGTCTAAAAGTGAATTTAGAAAACTGCAATTGGAAGAGGAAGAGAAGACACAGAGAGAGGCAGAGATGGAGAGACTGGGGAGAATCTGGTAGCAGAGACCCCAGGTGAGGGAGGTGGCTTAGAGACAAAGTGGTCAGTGGCCTGACCCGGACTCCTCTGCTCTCAGCCCTCAGTCTGCAGGGCTCCATAATGACAGTAGGAGAGAAGGTCTTCTCCAGCAATGGGCAGTCCATCACTTTTGATGCCATTCAGGAGGCATGTGCCAGAGCAGGCGGCCGCATTGCTGTCCCAAGGAATCCAGAGGAAAATGAGGCCATTGCAAGCTTCGTGAAGAAGTACAACACATATGCCTATGTAGGCCTGACTGAGGGTCCCAGCCCTGGAGACTTCCGCTACTCAGACGGGACCCCTGTAAACTACACCAACTGGTACCGAGGGGAGCCCGCAGGTCGGGGAAAAGAGCAGTGTGTGGAGATGTACACAGATGGGCAGTGGAATGACAGGAACTGCCTGTACTCCCGACTGACCATCTGTGAGTTCTGAGAGGCATTTAGGCCATGGGACAGGGAGGACGCTCTCTGGCCTTCGGCCTCCATCCTGAGGCTCCACTTGGTCTGTGAGATGCTAGAACTCCCTTTCAACAGAATTCACTTGTGGCTATTGGGACTGGAGGCACCCTTAGCCACTTCATTCCTCTGATGGGCCCTGACTCTTCCCCATAATCACTGACCAGCCTTGACACTCCCCTTGCAAACTCTCCCAGCACTGCACCCCAGGCAGCCACTCTTAGCCTTGGCCTTCGACATGAGATGGAGCCCTCCTTATTCCCCATCTGGTCCAGTTCCTTCACTTACAGATGGCAGCAGTGAGGTCTTGGGGTAGAAGGACCCTCCAAAGTCACACAAAGTGCCTGCCTCCTGGTCCCCTCAGCTCTCTCTCTGCAACCCAGTGCCATCAGGATGAGCAATCCTGGCCAAGCATAATGACAGAGAGAGGCAGACTTCGGGGAAGCCCTGACTGTGCAGAGCTAAGGACACAGTGGAGATTCTCTGGCACTCTGAGGTCTCTGTGGCAGGCCTGGTCAGGCTCTCCATGAGGTTAGAAGGCCAGGTAGTGTTCCAGCAGGGTGGTGGCCAAGCCAACCCCATGATTGATGTGTACGATTCACTCCTTTGAGTCTTTGAATGGCAACTCAGCCCCCTGACCTGAAGACAGCCAGCCTAGGCCTCTAGGGTGACCTAGAGCCGCCTTCAGATGTGACCCGAGTAACTTTCAACTGATGAACAAATCTGCACCCTACTTCAGATTTCAGTGGGCATTCACACCACCCCCCACACCACTGGCTCTGCTTTCTCCTTTCATTAATCCATTCACCCAGATATTTCATTAAAATTATCACGTGCCAGGTCTTAGGATATGTCGTGGGGTGGGCAAGGTAATCAGTGACAGTTGAAGATTTTTTTTTCCCAGAGCTTATGTCTTCATCTGTGAAATGGGAATAAGATACTTGTTGCTGTCACAGTTATTACCATCCCCCCAGCTACCAAAATTACTACCAGAACTGTTACTATACACAGAGGCTATTGACTGAGCACCTATCATTTGCCAAGAACCTTGACAAGCACTTCTAATACAGCATATTATGTACTATTCAATCTTTACACAATGTCACGGGACCAGTATTGTTTCCTCATTTTTTATAAGGACACTGAAGCTTGGAGGAGTTAAATGTTTTGAGTATTATTCCAGAGAGCAAGTGGCAGAGGCTGGATCCAAACCCATCTTCCTGGACCTGAAGCTTATGCTTCCAGCCACCCCACTCCTGAGCTGAATAAAGATGATTTAAGCTTAATAAATCGTGAATGTGTTCACATGAGTTTCCATAGCTTTGGTTCCAAGAAATATCACATTTCTGTATTTTTGTAAATCAAATGAACTCTGACTCTGAGCCCCCACTTGCCTGAAGATTGGAAAATTCAATCTCAGGATGTGCTTTCTTTGTTTGGTAGGAGGAGCCACCTCCTCTCCTCACTATGATGCTGCAGAGGGATGGGGAGCTACAGCCACCATTTGGAAGAACATACGGGCTTCCTGAGTCCACATGGTCCATTTGTGGGTGGGAATACCATGTCTTCTGTCCCCTACTCAGCCACCTGAATGATTTCTGCAGCCCAGCAGTGATGGTGGCACTCAGGGCTCAGTCCCAGGCCTTAGTGAGCCATCCTAGTCTCAGGTCTGCATGGAATGGGACCACACTCTCATGACCCAGGGCTGCGCAGGAATGAGACAATGTCTCCAATTGCTTGAGGAGGCAGCTACATATGTGTCCCACCTCCCACTTCTCCCCCTATAACACCTGTGAACACTCTTTCTCA
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AACCTCATCTTGATGGCAGCCTCTGGTGCTGTGTGCGAAGTGAAGGACGTTTGTGTTGGAAGCCCTGGTATCCCCGGCACTCCTGGATCCCACGGCCTGCCAGGCAGGGACGGGAGAGATGGTCTCAAAGGAGACCCTGGCCCTCCAGGTACTGTGCTGCAGACCCCACCCTCAGCTGAGGGACACAGACCCCTTTTCAGGAGGCCCATCTGTCCAGGCCCCTAGGCTGTGGGCCATAGTGAGCTGGGGGCTATAGTAAGCTGGGTGGGACTTCAGTCTGCAGGGCTGGTGGGTTCCTGGGGCCCTTATGATGGCGCATCCTGGAGAGTCTGTCCTCATAGTGCCCACGGAGTGATAGAGTGATAGCTGAGCCAGCCCTGGTGATAATGGGCATCGAGTCTCACTAGCTCCAACCAGTTGTGGGTGACAGATCCTACACATCCATGTCTCTTTTCTCTGCAGGCCCCATGGGTCCACCTGGAGAAATGCCATGTCCTCCTGGAAATGATGGGCTGCCTGGAGCCCCTGGTATCCCTGGAGAGTGTGGAGAGAAGGGGGAGCCTGGCGAGAGGGGCCCTCCAGGTGAGCAGGGTGGGGCAGGTGGGCAGTGGAAACATGGGCACAGCGACCCTGAAGTCAGTTACACGGGGATGATGGGGATCAGACAAACCCTACAGGTTCCCCAAGGGCATTTGGCTCAACCTAAGTAAGAGAGGATAAGCTTGAGGGAGAAAGCTGAGGTGTCTGGGGAGTGTGGTCACAATTCAGGGAAAGGCAGGTGTGGGAAGTCCTCCGTGCCTCATGACCACCGATGGGGACACACTGAGTCAGGTGTGGGATGAGGGACAGCACTGGGAGGCAGGGGAGGCATGTCCTGGGATGGAGGCCCTGGGGGCTGTCTGAAGGGTGAATGCGGACGAGGCATCCAGACAGACGGTGTGATCAGGAGCCCCACAGACAGAGGGGAACTTTGAAGCTCAGAGCGGTAAGCAAGTCCATCAGGGCAGTGCAGAGAGCATCATGCTTGCCCTTGGTGGAGGGTGCGGGAGAGGGACTTGCCCCACAGAGGCGGGCAGACAGAACCCCTCGAGGGACAGAGCAGGAAAGAGGACAAGGGGTGGGGGTCTCAGCAGGGGCAAGGCTTCACTAAAGAATAGGGGACCACGGGGTGTGGAGACACACTGGAATCTTGTGGACCCTCTGAGCCTAGGGTCTGGGTGGCGCCTAACAGCAATGAAAGGGCAGAGTTCCAGGATTGCAGATGGCAAAACACCTGCGTGGCAGCAAGTGGGAGTCTTCACTGGCCTGCCCCTCCTTCTGTGTGGGGCACTCTCCACAGGGCTTCCAGCTCATCTAGATGAGGAGCTCCAAGCCACACTCCACGACTTTAGACATCAAATCCTGCAGACAAGGGGAGGTAAGGGGACCCCCTGGGCCTCACGGGGTAGGAGTTTCCCACAAATTCCCCTCATTCTCAGCACCAGCTTCTAGAACATAGAGATTACAAATAGGCATGCACATGCAGGTCTTGGGGAAAGGAATGACGCTTGCTTTTCTGATGTCTTTGAATGGCCCAGAGGAGACAGAAGCAGACACAATTCACTCCCCATTTCATAGGAAAGCAAGTTCTCCACCTGCCTTGCTTTCCACTGAATTCCAGGAAATTGCACCATTTCTGGCAATAAGTAATTGTTACTTAGGTGAATGAATAAATGGAGGAGAGTCTAAAAGTGAATTTAGAAAACTGCAATTGGAAGAGGAAGAGAAGACACAGAGAGAGGCAGAGATGGAGAGACTGGGGAGAATCTGGTAGCAGAGACCCCAGGTGAGGGAGGTGGCTTAGAGACAAAGTGGTCAGTGGCCTGACCCGGACTCCTCTGCTCTCAGCCCTCAGTCTGCAGGGCTCCATAATGACAGTAGGAGAGAAGGTCTTCTCCAGCAATGGGCAGTCCATCACTTTTGATGCCATTCAGGAGGCATGTGCCAGAGCAGGCGGCCGCATTGCTGTCCCAAGGAATCCAGAGGAAAATGAGGCCATTGCAAGCTTCATGAAGAAGTACAACACATATGCCTATGTAGGCCTGACTGAGGGTCCCAGCCCTGGAGACTTCCGCTACTCAGACGGGACCCCTGTAAACTACACCAACTGGTACCGAGGGGAGCCCGCAGGTCGGGGAAAAGAGCAGTGTGTGGAGATGTACACAGATGGGCAGTGGAATGACAGGAACTGCCTGTACTCCCGACTGACCATCTGTGAGTTCTGAGAGGCATTTAGGCCATGGGACAGGGAGGACGCTCTCTGGCCTTCGGCCTCCATCCTGAGGCTCCACTTGGTCTGTGAGATGCTAGAACTCCCTTTCAACAGAATTCACTTGTGGCTATTGGGACTGGAGGCACCCTTAGCCACTTCATTCCTCTGATGGGCCCTGACTCTTCCCCATAATCACTGACCAGCCTTGACACTCCCCTTGCAAACTCTCCCAGCACTGCACCCCAGGCAGCCACTCTTAGCCTTGGCCTTCGACATGAGATGGAGCCCTCCTTATTCCCCATCTGGTCCAGTTCCTTCACTTACAGATGGCAGCAGTGAGGTCTTGGGGTAGAAGGACCCTCCAAAGTCACACAAAGTGCCTGCCTCCTGGTCCCCTCAGCTCTCTCTCTGCAACCCAGTGCCATCAGGATGAGCAATCCTGGCCAAGCATAATGACAGAGAGAGGCAGACTTCGGGGAAGCCCTGACTGTGCAGAGCTAAGGACACAGTGGAGATTCTCTGGCACTCTGAGGTCTCTGTGGCAGGCCTGGTCAGGCTCTCCATGAGGTTAGAAGGCCAGGTAGTGTTCCAGCAGGGTGGTGGCCAAGCCAACCCCATGATTGATGTGTACGATTCACTCCTTTGAGTCTTTGAATGGCAACTCAGCCCCCTGACCTGAAGACAGCCAGCCTAGGCCTCTAGGGTGACCTAGAGCCGCCTTCAGATGTGACCCGAGTAACTTTCAACTGATGAACAAATCTGCACCCTACTTCAGATTTCAGTGGGCATTCACACCACCCCCCACACCACTGGCTCTGCTTTCTCCTTTCATTAATCCATTCACCCAGATATTTCATTAAAATTATCACGTGCCAGGTCTTAGGATATGTCGTGGGGTGGGCAAGGTAATCAGTGACAGTTGAAGATTTTTTTTTCCCAGAGCTTATGTCTTCATCTGTGAAATGGGAATAAGATACTTGTTGCTGTCACAGTTATTACCATCCCCCCAGCTACCAAAATTACTACCAGAACTGTTACTATACACAGAGGCTATTGACTGAGCACCTATCATTTGCCAAGAACCTTGACAAGCACTTCTAATACAGCATATTATGTACTATTCAATCTTTACACAATGTCACGGGACCAGTATTGTTTCCTCATTTTTTATAAGGACACTGAAGCTTGGAGGAGTTAAATGTTTTGAGTATTATTCCAGAGAGCAAGTGGCAGAGGCTGGATCCAAACCCATCTTCCTGGACCTGAAGCTTATGCTTCCAGCCACCCCACTCCTGAGCTGAATAAAGATGATTTAAGCTTAATAAATCGTGAATGTGTTCACATGAGTTTCCATAGCTTTGGTTCCAAGAAATATCACATTTCTGTATTTTTGTAAATCAAATGAACTCTGACTCTGAGCCCCCACTTGCCTGAAGATTGGAAAATTCAATCTCAGGATGTGCTTTCTTTGTTTGGTAGGAGGAGCCACCTCCTCTCCTCACTATGATGCTGCAGAGGGATGGGGAGCTACAGCCACCATTTGGAAGAACATACGGGCTTCCTGAGTCCACATGGTCCATTTGTGGGTGGGAATACCATGTCTTCTGTCCCCTACTCAGCCACCTGAATGATTTCTGCAGCCCAGCAGTGATGGTGGCACTCAGGGCTCAGTCCCAGGCCTTAGTGAGCCATCCTAGTCTCAGGTCTGCATGGAATGGGACCACACTCTCATGACCCAGGGCTGCGCAGGAATGAGACAATGTCTCCAATTGCTTGAGGAGGCAGCTACATATGTGTCCCACCTCCCACTTCTCCCCCTATAACACCTGTGAACACTCTTTCTCA
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Task1_train_14099
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This is a variant in SFTPA1 (surfactant protein A1), located on Chromosome 10. Is this mutation a likely cause of disease or not?
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Pathogenic; Interstitial lung disease 1
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CACGGCCTGCCAGGCAGGGACGGGAGAGATGGTCTCAAAGGAGACCCTGGCCCTCCAGGTACTGTGCTGCAGACCCCACCCTCAGCTGAGGGACACAGACCCCTTTTCAGGAGGCCCATCTGTCCAGGCCCCTAGGCTGTGGGCCATAGTGAGCTGGGGGCTATAGTAAGCTGGGTGGGACTTCAGTCTGCAGGGCTGGTGGGTTCCTGGGGCCCTTATGATGGCGCATCCTGGAGAGTCTGTCCTCATAGTGCCCACGGAGTGATAGAGTGATAGCTGAGCCAGCCCTGGTGATAATGGGCATCGAGTCTCACTAGCTCCAACCAGTTGTGGGTGACAGATCCTACACATCCATGTCTCTTTTCTCTGCAGGCCCCATGGGTCCACCTGGAGAAATGCCATGTCCTCCTGGAAATGATGGGCTGCCTGGAGCCCCTGGTATCCCTGGAGAGTGTGGAGAGAAGGGGGAGCCTGGCGAGAGGGGCCCTCCAGGTGAGCAGGGTGGGGCAGGTGGGCAGTGGAAACATGGGCACAGCGACCCTGAAGTCAGTTACACGGGGATGATGGGGATCAGACAAACCCTACAGGTTCCCCAAGGGCATTTGGCTCAACCTAAGTAAGAGAGGATAAGCTTGAGGGAGAAAGCTGAGGTGTCTGGGGAGTGTGGTCACAATTCAGGGAAAGGCAGGTGTGGGAAGTCCTCCGTGCCTCATGACCACCGATGGGGACACACTGAGTCAGGTGTGGGATGAGGGACAGCACTGGGAGGCAGGGGAGGCATGTCCTGGGATGGAGGCCCTGGGGGCTGTCTGAAGGGTGAATGCGGACGAGGCATCCAGACAGACGGTGTGATCAGGAGCCCCACAGACAGAGGGGAACTTTGAAGCTCAGAGCGGTAAGCAAGTCCATCAGGGCAGTGCAGAGAGCATCATGCTTGCCCTTGGTGGAGGGTGCGGGAGAGGGACTTGCCCCACAGAGGCGGGCAGACAGAACCCCTCGAGGGACAGAGCAGGAAAGAGGACAAGGGGTGGGGGTCTCAGCAGGGGCAAGGCTTCACTAAAGAATAGGGGACCACGGGGTGTGGAGACACACTGGAATCTTGTGGACCCTCTGAGCCTAGGGTCTGGGTGGCGCCTAACAGCAATGAAAGGGCAGAGTTCCAGGATTGCAGATGGCAAAACACCTGCGTGGCAGCAAGTGGGAGTCTTCACTGGCCTGCCCCTCCTTCTGTGTGGGGCACTCTCCACAGGGCTTCCAGCTCATCTAGATGAGGAGCTCCAAGCCACACTCCACGACTTTAGACATCAAATCCTGCAGACAAGGGGAGGTAAGGGGACCCCCTGGGCCTCACGGGGTAGGAGTTTCCCACAAATTCCCCTCATTCTCAGCACCAGCTTCTAGAACATAGAGATTACAAATAGGCATGCACATGCAGGTCTTGGGGAAAGGAATGACGCTTGCTTTTCTGATGTCTTTGAATGGCCCAGAGGAGACAGAAGCAGACACAATTCACTCCCCATTTCATAGGAAAGCAAGTTCTCCACCTGCCTTGCTTTCCACTGAATTCCAGGAAATTGCACCATTTCTGGCAATAAGTAATTGTTACTTAGGTGAATGAATAAATGGAGGAGAGTCTAAAAGTGAATTTAGAAAACTGCAATTGGAAGAGGAAGAGAAGACACAGAGAGAGGCAGAGATGGAGAGACTGGGGAGAATCTGGTAGCAGAGACCCCAGGTGAGGGAGGTGGCTTAGAGACAAAGTGGTCAGTGGCCTGACCCGGACTCCTCTGCTCTCAGCCCTCAGTCTGCAGGGCTCCATAATGACAGTAGGAGAGAAGGTCTTCTCCAGCAATGGGCAGTCCATCACTTTTGATGCCATTCAGGAGGCATGTGCCAGAGCAGGCGGCCGCATTGCTGTCCCAAGGAATCCAGAGGAAAATGAGGCCATTGCAAGCTTCGTGAAGAAGTACAACACATATGCCTATGTAGGCCTGACTGAGGGTCCCAGCCCTGGAGACTTCCGCTACTCAGACGGGACCCCTGTAAACTACACCAACTGGTACCGAGGGGAGCCCGCAGGTCGGGGAAAAGAGCAGTGTGTGGAGATGTACACAGATGGGCAGTGGAATGACAGGAACTGCCTGTACTCCCGACTGACCATCTGTGAGTTCTGAGAGGCATTTAGGCCATGGGACAGGGAGGACGCTCTCTGGCCTTCGGCCTCCATCCTGAGGCTCCACTTGGTCTGTGAGATGCTAGAACTCCCTTTCAACAGAATTCACTTGTGGCTATTGGGACTGGAGGCACCCTTAGCCACTTCATTCCTCTGATGGGCCCTGACTCTTCCCCATAATCACTGACCAGCCTTGACACTCCCCTTGCAAACTCTCCCAGCACTGCACCCCAGGCAGCCACTCTTAGCCTTGGCCTTCGACATGAGATGGAGCCCTCCTTATTCCCCATCTGGTCCAGTTCCTTCACTTACAGATGGCAGCAGTGAGGTCTTGGGGTAGAAGGACCCTCCAAAGTCACACAAAGTGCCTGCCTCCTGGTCCCCTCAGCTCTCTCTCTGCAACCCAGTGCCATCAGGATGAGCAATCCTGGCCAAGCATAATGACAGAGAGAGGCAGACTTCGGGGAAGCCCTGACTGTGCAGAGCTAAGGACACAGTGGAGATTCTCTGGCACTCTGAGGTCTCTGTGGCAGGCCTGGTCAGGCTCTCCATGAGGTTAGAAGGCCAGGTAGTGTTCCAGCAGGGTGGTGGCCAAGCCAACCCCATGATTGATGTGTACGATTCACTCCTTTGAGTCTTTGAATGGCAACTCAGCCCCCTGACCTGAAGACAGCCAGCCTAGGCCTCTAGGGTGACCTAGAGCCGCCTTCAGATGTGACCCGAGTAACTTTCAACTGATGAACAAATCTGCACCCTACTTCAGATTTCAGTGGGCATTCACACCACCCCCCACACCACTGGCTCTGCTTTCTCCTTTCATTAATCCATTCACCCAGATATTTCATTAAAATTATCACGTGCCAGGTCTTAGGATATGTCGTGGGGTGGGCAAGGTAATCAGTGACAGTTGAAGATTTTTTTTTCCCAGAGCTTATGTCTTCATCTGTGAAATGGGAATAAGATACTTGTTGCTGTCACAGTTATTACCATCCCCCCAGCTACCAAAATTACTACCAGAACTGTTACTATACACAGAGGCTATTGACTGAGCACCTATCATTTGCCAAGAACCTTGACAAGCACTTCTAATACAGCATATTATGTACTATTCAATCTTTACACAATGTCACGGGACCAGTATTGTTTCCTCATTTTTTATAAGGACACTGAAGCTTGGAGGAGTTAAATGTTTTGAGTATTATTCCAGAGAGCAAGTGGCAGAGGCTGGATCCAAACCCATCTTCCTGGACCTGAAGCTTATGCTTCCAGCCACCCCACTCCTGAGCTGAATAAAGATGATTTAAGCTTAATAAATCGTGAATGTGTTCACATGAGTTTCCATAGCTTTGGTTCCAAGAAATATCACATTTCTGTATTTTTGTAAATCAAATGAACTCTGACTCTGAGCCCCCACTTGCCTGAAGATTGGAAAATTCAATCTCAGGATGTGCTTTCTTTGTTTGGTAGGAGGAGCCACCTCCTCTCCTCACTATGATGCTGCAGAGGGATGGGGAGCTACAGCCACCATTTGGAAGAACATACGGGCTTCCTGAGTCCACATGGTCCATTTGTGGGTGGGAATACCATGTCTTCTGTCCCCTACTCAGCCACCTGAATGATTTCTGCAGCCCAGCAGTGATGGTGGCACTCAGGGCTCAGTCCCAGGCCTTAGTGAGCCATCCTAGTCTCAGGTCTGCATGGAATGGGACCACACTCTCATGACCCAGGGCTGCGCAGGAATGAGACAATGTCTCCAATTGCTTGAGGAGGCAGCTACATATGTGTCCCACCTCCCACTTCTCCCCCTATAACACCTGTGAACACTCTTTCTCAGTGCATTTATTGCTTTTCTTGGGCGGAAGGAAGCTCAGAAAACCAATGAGAATAAGAGGAAATTTTTCTCAGTCTTTTATGAGTGATAAT
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CACGGCCTGCCAGGCAGGGACGGGAGAGATGGTCTCAAAGGAGACCCTGGCCCTCCAGGTACTGTGCTGCAGACCCCACCCTCAGCTGAGGGACACAGACCCCTTTTCAGGAGGCCCATCTGTCCAGGCCCCTAGGCTGTGGGCCATAGTGAGCTGGGGGCTATAGTAAGCTGGGTGGGACTTCAGTCTGCAGGGCTGGTGGGTTCCTGGGGCCCTTATGATGGCGCATCCTGGAGAGTCTGTCCTCATAGTGCCCACGGAGTGATAGAGTGATAGCTGAGCCAGCCCTGGTGATAATGGGCATCGAGTCTCACTAGCTCCAACCAGTTGTGGGTGACAGATCCTACACATCCATGTCTCTTTTCTCTGCAGGCCCCATGGGTCCACCTGGAGAAATGCCATGTCCTCCTGGAAATGATGGGCTGCCTGGAGCCCCTGGTATCCCTGGAGAGTGTGGAGAGAAGGGGGAGCCTGGCGAGAGGGGCCCTCCAGGTGAGCAGGGTGGGGCAGGTGGGCAGTGGAAACATGGGCACAGCGACCCTGAAGTCAGTTACACGGGGATGATGGGGATCAGACAAACCCTACAGGTTCCCCAAGGGCATTTGGCTCAACCTAAGTAAGAGAGGATAAGCTTGAGGGAGAAAGCTGAGGTGTCTGGGGAGTGTGGTCACAATTCAGGGAAAGGCAGGTGTGGGAAGTCCTCCGTGCCTCATGACCACCGATGGGGACACACTGAGTCAGGTGTGGGATGAGGGACAGCACTGGGAGGCAGGGGAGGCATGTCCTGGGATGGAGGCCCTGGGGGCTGTCTGAAGGGTGAATGCGGACGAGGCATCCAGACAGACGGTGTGATCAGGAGCCCCACAGACAGAGGGGAACTTTGAAGCTCAGAGCGGTAAGCAAGTCCATCAGGGCAGTGCAGAGAGCATCATGCTTGCCCTTGGTGGAGGGTGCGGGAGAGGGACTTGCCCCACAGAGGCGGGCAGACAGAACCCCTCGAGGGACAGAGCAGGAAAGAGGACAAGGGGTGGGGGTCTCAGCAGGGGCAAGGCTTCACTAAAGAATAGGGGACCACGGGGTGTGGAGACACACTGGAATCTTGTGGACCCTCTGAGCCTAGGGTCTGGGTGGCGCCTAACAGCAATGAAAGGGCAGAGTTCCAGGATTGCAGATGGCAAAACACCTGCGTGGCAGCAAGTGGGAGTCTTCACTGGCCTGCCCCTCCTTCTGTGTGGGGCACTCTCCACAGGGCTTCCAGCTCATCTAGATGAGGAGCTCCAAGCCACACTCCACGACTTTAGACATCAAATCCTGCAGACAAGGGGAGGTAAGGGGACCCCCTGGGCCTCACGGGGTAGGAGTTTCCCACAAATTCCCCTCATTCTCAGCACCAGCTTCTAGAACATAGAGATTACAAATAGGCATGCACATGCAGGTCTTGGGGAAAGGAATGACGCTTGCTTTTCTGATGTCTTTGAATGGCCCAGAGGAGACAGAAGCAGACACAATTCACTCCCCATTTCATAGGAAAGCAAGTTCTCCACCTGCCTTGCTTTCCACTGAATTCCAGGAAATTGCACCATTTCTGGCAATAAGTAATTGTTACTTAGGTGAATGAATAAATGGAGGAGAGTCTAAAAGTGAATTTAGAAAACTGCAATTGGAAGAGGAAGAGAAGACACAGAGAGAGGCAGAGATGGAGAGACTGGGGAGAATCTGGTAGCAGAGACCCCAGGTGAGGGAGGTGGCTTAGAGACAAAGTGGTCAGTGGCCTGACCCGGACTCCTCTGCTCTCAGCCCTCAGTCTGCAGGGCTCCATAATGACAGTAGGAGAGAAGGTCTTCTCCAGCAATGGGCAGTCCATCACTTTTGATGCCATTCAGGAGGCATGTGCCAGAGCAGGCGGCCGCATTGCTGTCCCAAGGAATCCAGAGGAAAATGAGGCCATTGCAAGCTTCGTGAAGAAGTACAACACATATGCCTATGTAGGCCTGACTGAGGGTCCCAGCCCTGGAGACTTCCGCTACTCAGACGGGACCCCTGTAAACCACACCAACTGGTACCGAGGGGAGCCCGCAGGTCGGGGAAAAGAGCAGTGTGTGGAGATGTACACAGATGGGCAGTGGAATGACAGGAACTGCCTGTACTCCCGACTGACCATCTGTGAGTTCTGAGAGGCATTTAGGCCATGGGACAGGGAGGACGCTCTCTGGCCTTCGGCCTCCATCCTGAGGCTCCACTTGGTCTGTGAGATGCTAGAACTCCCTTTCAACAGAATTCACTTGTGGCTATTGGGACTGGAGGCACCCTTAGCCACTTCATTCCTCTGATGGGCCCTGACTCTTCCCCATAATCACTGACCAGCCTTGACACTCCCCTTGCAAACTCTCCCAGCACTGCACCCCAGGCAGCCACTCTTAGCCTTGGCCTTCGACATGAGATGGAGCCCTCCTTATTCCCCATCTGGTCCAGTTCCTTCACTTACAGATGGCAGCAGTGAGGTCTTGGGGTAGAAGGACCCTCCAAAGTCACACAAAGTGCCTGCCTCCTGGTCCCCTCAGCTCTCTCTCTGCAACCCAGTGCCATCAGGATGAGCAATCCTGGCCAAGCATAATGACAGAGAGAGGCAGACTTCGGGGAAGCCCTGACTGTGCAGAGCTAAGGACACAGTGGAGATTCTCTGGCACTCTGAGGTCTCTGTGGCAGGCCTGGTCAGGCTCTCCATGAGGTTAGAAGGCCAGGTAGTGTTCCAGCAGGGTGGTGGCCAAGCCAACCCCATGATTGATGTGTACGATTCACTCCTTTGAGTCTTTGAATGGCAACTCAGCCCCCTGACCTGAAGACAGCCAGCCTAGGCCTCTAGGGTGACCTAGAGCCGCCTTCAGATGTGACCCGAGTAACTTTCAACTGATGAACAAATCTGCACCCTACTTCAGATTTCAGTGGGCATTCACACCACCCCCCACACCACTGGCTCTGCTTTCTCCTTTCATTAATCCATTCACCCAGATATTTCATTAAAATTATCACGTGCCAGGTCTTAGGATATGTCGTGGGGTGGGCAAGGTAATCAGTGACAGTTGAAGATTTTTTTTTCCCAGAGCTTATGTCTTCATCTGTGAAATGGGAATAAGATACTTGTTGCTGTCACAGTTATTACCATCCCCCCAGCTACCAAAATTACTACCAGAACTGTTACTATACACAGAGGCTATTGACTGAGCACCTATCATTTGCCAAGAACCTTGACAAGCACTTCTAATACAGCATATTATGTACTATTCAATCTTTACACAATGTCACGGGACCAGTATTGTTTCCTCATTTTTTATAAGGACACTGAAGCTTGGAGGAGTTAAATGTTTTGAGTATTATTCCAGAGAGCAAGTGGCAGAGGCTGGATCCAAACCCATCTTCCTGGACCTGAAGCTTATGCTTCCAGCCACCCCACTCCTGAGCTGAATAAAGATGATTTAAGCTTAATAAATCGTGAATGTGTTCACATGAGTTTCCATAGCTTTGGTTCCAAGAAATATCACATTTCTGTATTTTTGTAAATCAAATGAACTCTGACTCTGAGCCCCCACTTGCCTGAAGATTGGAAAATTCAATCTCAGGATGTGCTTTCTTTGTTTGGTAGGAGGAGCCACCTCCTCTCCTCACTATGATGCTGCAGAGGGATGGGGAGCTACAGCCACCATTTGGAAGAACATACGGGCTTCCTGAGTCCACATGGTCCATTTGTGGGTGGGAATACCATGTCTTCTGTCCCCTACTCAGCCACCTGAATGATTTCTGCAGCCCAGCAGTGATGGTGGCACTCAGGGCTCAGTCCCAGGCCTTAGTGAGCCATCCTAGTCTCAGGTCTGCATGGAATGGGACCACACTCTCATGACCCAGGGCTGCGCAGGAATGAGACAATGTCTCCAATTGCTTGAGGAGGCAGCTACATATGTGTCCCACCTCCCACTTCTCCCCCTATAACACCTGTGAACACTCTTTCTCAGTGCATTTATTGCTTTTCTTGGGCGGAAGGAAGCTCAGAAAACCAATGAGAATAAGAGGAAATTTTTCTCAGTCTTTTATGAGTGATAAT
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Subsets and Splits
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