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_9500
|
Consider this mutation in TGFBI (transforming growth factor beta induced) on Chromosome 5. Is this a benign change or a disease-causing variant?
|
Pathogenic; Reis-Bucklers' corneal dystrophy
|
CCAACTGACTGCTGGGGCAGATTTGTGGTCATGAACATGTGCTTTGTGTCCTCTGACCATTAGACAGATTGTGGGTCACAACGTTGAGTATACAGTGGGAGCTTAATAAGTGCTTATTCCCTGGGCAGGGAGTTCTTCATTTCAGGGGTGACCACTTACATCTTCTCCTCTGGGCCCTCCTTGACCAGGCTAATTACCATTCTTGGGATTAACTCTATCTCCTTTTCCCGCAACCTGCAGGAGATGCCAAGGAACTTGCCAACATCCTGAAATACCACATTGGTGATGAAATCCTGGTTAGCGGAGGCATCGGGGCCCTGGTGCGGCTAAAGTCTCTCCAAGGTGACAAGCTGGAAGTCAGCTTGGTAAGTGTCCTGCAAATCAAAGGCTGGCTAAATTTCCCCAGGGCAGGGCTCCAGGACATATCTCACCCCCAGGATGGAATTATACACACACAACCTTCAAGTTGCAGCCCGAATCTCTGAGTGTAATTCGTCCAAAGAAAAAGAGAAAAGAGAAGAGGGTCTTCAGGGAAATCAAGTGAGATCATAGTTAGACATGAGTAAGAACTTCCAGATTTACAAGGGAATAGAGCATCTGATTTGGCATCTGAGAGAGGCTATTAGATCTTCCTTCTCTTAAGGAGGTTGTAGGCAACTAGTTATGTGACTGAAGAGATCAGTCTGTACTCACACCATCCCACCCCCCAAACCCAGGGCTTCACTGAGTTGTACCATGAACCAGACCATCCCAAGAGGCTTTTTGAGTTCTGACACTTGCTCTGTGAGCCTTCCCTTGCTCTGCACATTGATGATATAACTTTGTAACTGCACTAAGAGTGTTCCTAAAGCAGATAGCCAGCCGAGCTCCAGAAATCTCCCTGGCTGCACCTGCAGAGGCCACTGACCCCTCTGTGGAGGGACCGCTCTTCAGTGTGTGGCTGGCTTCTACTCTCTGCTCCTCTCTCTTGGTCTTCAGCCATCCATTGCTCACCAGTTTCTCACGAGGAGCATAGGAAGATATGCATGTAGGGAGGTAGGCACGGGGATGACTTGTTTGACTTTAGCAGGTCATTCAAGAATCTCCTCGCACCTGGTTTCAGATGCTGGGGTCCTGTCTGTCACAGGCTTCTGTGCCTCCTACCCCCTTGAGTTTGTCACATGGCCCTTCAGGAAGGCCTGAGATAGATTTGCCCTGGGTGGGCCTCCTATGAGAAAATCTTAAGTGAGGCACCCAGGCAAAATGGAAAGAGCCTTTTGCCCAGAGCAGGAAGCCTGTCTTCCATTTCCAGCTGTTCCACCTACTTAGCTTAAAAGAGGCACTTCGCCTGTCTTCAGTCTCAGTCTCAGTCTCCTCTTCTGTGGAATGGGACAATAATATCTACTCTCCTTATCATACACTGCTGTGAGGACTGAGTGGATCACACAAAAAAGCATTATGTAAATTGCAAAGTGCTAAATCCACACAGGAGATTTGAATTAATCCACCACACTGAAGGTCTGTCAAGGGCAGGGACTGTTTCATTCACCAGAGTATCCCCAGTCTAACACAGGACTTGGCATATGAAAAGTGTTCAGTAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGCGGATCATCTGAGGTCAGGAGTTCAAGTCCAGCCTGGCCAACGTGGTGAAACCACATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCACAGCTACTCTGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAAGATTGAAACTCCATCTCAAAAACAAAGAACAAGGAAAAAAACGAAAACTGTTCAGTAAACACTTGCTGAATGAATAAAATAAATATATAAATGTATAAATAAATGCTCTACTTTCAACCACTACTCTGTTTTTCTTTTAGAAAAACAATGTGGTGAGTGTCAACAAGGAGCCTGTTGCCGAGCCTGACATCATGGCCACAAATGGCGTGGTCCATGTCATCACCAATGTTCTGCAGCCTCCAGGTAAGTGTCGCATCCCCACTGACTCTGCAGCCAGTCCTTTTCTTCATGTGGCAGTTGGTGGAGAGAAGAAAAACTGTTCTAAACAATGATGAGAATAACATGTAATTGTGATAGTTAAACTGTGCCTATGTGACTGATTGCAGAGTGAATTGGGAGCTGTTGGTTTTGAATGCACCACACTAAGGAATGTGAGGACACATTGCTCTTTGCGGAGTTGCCCAGCTATATTAGCTCCCCTCGGACACAGCCCAGTTTTCTGTATTCGCGTGGATGCTGTCCGCGCGATTCCCAGCACTCCTCTTACAGCATCTCACCTCAGTGTATGTTCCTTGCCTCCAGTGCAGTTGAACCTCAGTCCTGCCTCTCCTCATGTGTGCATTCACCTTTCTTGGTGCTCTCTCCCCATGGGCCAAGTTCTACCATGAGTTATGAAACATTATGGAGAAAACATGTCTTTGGAAATGTGAGCCAGAAAGCCCACCAGTGCCCCTCAGTCACGGTTGTTATGAATGACATGCTAATGGTTTCACTCTGGTCAAACCTGCCTTTTCTTTCCTCTTCAGCCAACAGACCTCAGGAAAGAGGGGATGAACTTGCAGACTCTGCGCTTGAGATCTTCAAACAAGCATCAGCGTTTTCCAGGGTAAGATGCCTGCTAGGTTTGCGCCTAGCCTGAGCAGCCTCAGGTCCTCTGTTTGGGCCATAGAGGAGCCTCTCCAGCCCCTGTCTTCCTTGGCTGCTCCCCAGGGCTCTCTTAAAACTTCTCCCCACTCCCACTGAGGCATCCTCAGCCCCAGCCTGTGTCAAATTCAGAGTAAAGAACCAAGGCAACTCCCTGGCTTTCATGGGCCAAAGCGCAGGCTTTCACACCGAGGCCTCTGAGCCTCAGATCATGGGGAAGTCACTGCTGGAGAGAACAGACATAGCTCTGGAAGCCATCTGCCCAAGAGGGCAGCCCATCCCAAGTTCATCTTACAGTGGCCAGGCCTGCCCTGAGCCGGGGCCTCTGGGTCACTCTTCTGCTGTCCATGGCATTGCCCATCCTGGGTGAGGCTGGGGCTCTCCTGGGCACTGTATGTATTCTGGATACAGGGATACTGGGCTCGCTATGTGTGTGGAGCCATCCCTTCCTTGCCCCAGCCCCACCTCCCTCTCAAACCCTCTCTGGCTCTTTCTGAGCTTCCTTTCCTGCTCCCCAGCTTGCCCAGTGCTCAGTGCCCCACTTGGCTCTTTTGCTACTTCGGGTCAGGTGGAGCCTCTTGGGAATGTGAAGTGCCTTACAGAAAGATTGCACTTCAAGAGGAGAGGCTGCAGGGAGCCATCCTAAACCCAGAGGCCTGGAGCTTACTGTGTCACTTTACTTTTGTACACAGGGGTCTCCTTAGTGCCCTCGAGAAGGATTCTTGGCCCTGAGCTTCTACTCCTGAGGCCACCTCTGTGCAGCCCCAGCTCCCTCAACTCTAGGCTGTAGTCTCAGTGGGAAAGCCTGGCTTGGGGGTCTCCTAGGAATGTCCACCTGAAGGCACACTTGATAGGGGCTTGCACAACTTATGTCTGCCAAGGCCACCTGAGGAACTCCCTGGTGCCTATAAGTTCCACCTTCCCCTTCCTCTTCCTCGCCCCAGCATTTTTTCTGAGTAGGGGTGGCAATGGGCAAAGCCATTGTCATAAGCAGTTGCAGGTATAACTTTCACTAGAAAACCTGACACCTTGTGTTTTCTTTCAGGCTTCCCAGAGGTCTGTGCGACTAGGTGAGTCTGGTCTGGGTTTGAAGTCATTGCAGACCTGTTTAGGCCTTACCCCCAAGCAAGCCCAAGCCTGCCATCTGCTGTATATAGATAAGAACATCATGGTGCAGTAAAAGAAGCCTGGCCTTTGGAGTCAGAACAGCAGGGTGACTTGGGGTCAGACCCAGAGCACCCCATTTCCTTCTCTGTAAGATGAGGATAATAAGAGTAACAACCTTTTAGGGTTAAGGTGAGTTTTCAGCTTAGGAAGTCTGGGAATAT
|
CCAACTGACTGCTGGGGCAGATTTGTGGTCATGAACATGTGCTTTGTGTCCTCTGACCATTAGACAGATTGTGGGTCACAACGTTGAGTATACAGTGGGAGCTTAATAAGTGCTTATTCCCTGGGCAGGGAGTTCTTCATTTCAGGGGTGACCACTTACATCTTCTCCTCTGGGCCCTCCTTGACCAGGCTAATTACCATTCTTGGGATTAACTCTATCTCCTTTTCCCGCAACCTGCAGGAGATGCCAAGGAACTTGCCAACATCCTGAAATACCACATTGGTGATGAAATCCTGGTTAGCGGAGGCATCGGGGCCCTGGTGCGGCTAAAGTCTCTCCAAGGTGACAAGCTGGAAGTCAGCTTGGTAAGTGTCCTGCAAATCAAAGGCTGGCTAAATTTCCCCAGGGCAGGGCTCCAGGACATATCTCACCCCCAGGATGGAATTATACACACACAACCTTCAAGTTGCAGCCCGAATCTCTGAGTGTAATTCGTCCAAAGAAAAAGAGAAAAGAGAAGAGGGTCTTCAGGGAAATCAAGTGAGATCATAGTTAGACATGAGTAAGAACTTCCAGATTTACAAGGGAATAGAGCATCTGATTTGGCATCTGAGAGAGGCTATTAGATCTTCCTTCTCTTAAGGAGGTTGTAGGCAACTAGTTATGTGACTGAAGAGATCAGTCTGTACTCACACCATCCCACCCCCCAAACCCAGGGCTTCACTGAGTTGTACCATGAACCAGACCATCCCAAGAGGCTTTTTGAGTTCTGACACTTGCTCTGTGAGCCTTCCCTTGCTCTGCACATTGATGATATAACTTTGTAACTGCACTAAGAGTGTTCCTAAAGCAGATAGCCAGCCGAGCTCCAGAAATCTCCCTGGCTGCACCTGCAGAGGCCACTGACCCCTCTGTGGAGGGACCGCTCTTCAGTGTGTGGCTGGCTTCTACTCTCTGCTCCTCTCTCTTGGTCTTCAGCCATCCATTGCTCACCAGTTTCTCACGAGGAGCATAGGAAGATATGCATGTAGGGAGGTAGGCACGGGGATGACTTGTTTGACTTTAGCAGGTCATTCAAGAATCTCCTCGCACCTGGTTTCAGATGCTGGGGTCCTGTCTGTCACAGGCTTCTGTGCCTCCTACCCCCTTGAGTTTGTCACATGGCCCTTCAGGAAGGCCTGAGATAGATTTGCCCTGGGTGGGCCTCCTATGAGAAAATCTTAAGTGAGGCACCCAGGCAAAATGGAAAGAGCCTTTTGCCCAGAGCAGGAAGCCTGTCTTCCATTTCCAGCTGTTCCACCTACTTAGCTTAAAAGAGGCACTTCGCCTGTCTTCAGTCTCAGTCTCAGTCTCCTCTTCTGTGGAATGGGACAATAATATCTACTCTCCTTATCATACACTGCTGTGAGGACTGAGTGGATCACACAAAAAAGCATTATGTAAATTGCAAAGTGCTAAATCCACACAGGAGATTTGAATTAATCCACCACACTGAAGGTCTGTCAAGGGCAGGGACTGTTTCATTCACCAGAGTATCCCCAGTCTAACACAGGACTTGGCATATGAAAAGTGTTCAGTAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGCGGATCATCTGAGGTCAGGAGTTCAAGTCCAGCCTGGCCAACGTGGTGAAACCACATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCACAGCTACTCTGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAAGATTGAAACTCCATCTCAAAAACAAAGAACAAGGAAAAAAACGAAAACTGTTCAGTAAACACTTGCTGAATGAATAAAATAAATATATAAATGTATAAATAAATGCTCTACTTTCAACCACTACTCTGTTTTTCTTTTAGAAAAACAATGTGGTGAGTGTCAACAAGGAGCCTGTTGCCGAGCCTGACATCATGGCCACAAATGACGTGGTCCATGTCATCACCAATGTTCTGCAGCCTCCAGGTAAGTGTCGCATCCCCACTGACTCTGCAGCCAGTCCTTTTCTTCATGTGGCAGTTGGTGGAGAGAAGAAAAACTGTTCTAAACAATGATGAGAATAACATGTAATTGTGATAGTTAAACTGTGCCTATGTGACTGATTGCAGAGTGAATTGGGAGCTGTTGGTTTTGAATGCACCACACTAAGGAATGTGAGGACACATTGCTCTTTGCGGAGTTGCCCAGCTATATTAGCTCCCCTCGGACACAGCCCAGTTTTCTGTATTCGCGTGGATGCTGTCCGCGCGATTCCCAGCACTCCTCTTACAGCATCTCACCTCAGTGTATGTTCCTTGCCTCCAGTGCAGTTGAACCTCAGTCCTGCCTCTCCTCATGTGTGCATTCACCTTTCTTGGTGCTCTCTCCCCATGGGCCAAGTTCTACCATGAGTTATGAAACATTATGGAGAAAACATGTCTTTGGAAATGTGAGCCAGAAAGCCCACCAGTGCCCCTCAGTCACGGTTGTTATGAATGACATGCTAATGGTTTCACTCTGGTCAAACCTGCCTTTTCTTTCCTCTTCAGCCAACAGACCTCAGGAAAGAGGGGATGAACTTGCAGACTCTGCGCTTGAGATCTTCAAACAAGCATCAGCGTTTTCCAGGGTAAGATGCCTGCTAGGTTTGCGCCTAGCCTGAGCAGCCTCAGGTCCTCTGTTTGGGCCATAGAGGAGCCTCTCCAGCCCCTGTCTTCCTTGGCTGCTCCCCAGGGCTCTCTTAAAACTTCTCCCCACTCCCACTGAGGCATCCTCAGCCCCAGCCTGTGTCAAATTCAGAGTAAAGAACCAAGGCAACTCCCTGGCTTTCATGGGCCAAAGCGCAGGCTTTCACACCGAGGCCTCTGAGCCTCAGATCATGGGGAAGTCACTGCTGGAGAGAACAGACATAGCTCTGGAAGCCATCTGCCCAAGAGGGCAGCCCATCCCAAGTTCATCTTACAGTGGCCAGGCCTGCCCTGAGCCGGGGCCTCTGGGTCACTCTTCTGCTGTCCATGGCATTGCCCATCCTGGGTGAGGCTGGGGCTCTCCTGGGCACTGTATGTATTCTGGATACAGGGATACTGGGCTCGCTATGTGTGTGGAGCCATCCCTTCCTTGCCCCAGCCCCACCTCCCTCTCAAACCCTCTCTGGCTCTTTCTGAGCTTCCTTTCCTGCTCCCCAGCTTGCCCAGTGCTCAGTGCCCCACTTGGCTCTTTTGCTACTTCGGGTCAGGTGGAGCCTCTTGGGAATGTGAAGTGCCTTACAGAAAGATTGCACTTCAAGAGGAGAGGCTGCAGGGAGCCATCCTAAACCCAGAGGCCTGGAGCTTACTGTGTCACTTTACTTTTGTACACAGGGGTCTCCTTAGTGCCCTCGAGAAGGATTCTTGGCCCTGAGCTTCTACTCCTGAGGCCACCTCTGTGCAGCCCCAGCTCCCTCAACTCTAGGCTGTAGTCTCAGTGGGAAAGCCTGGCTTGGGGGTCTCCTAGGAATGTCCACCTGAAGGCACACTTGATAGGGGCTTGCACAACTTATGTCTGCCAAGGCCACCTGAGGAACTCCCTGGTGCCTATAAGTTCCACCTTCCCCTTCCTCTTCCTCGCCCCAGCATTTTTTCTGAGTAGGGGTGGCAATGGGCAAAGCCATTGTCATAAGCAGTTGCAGGTATAACTTTCACTAGAAAACCTGACACCTTGTGTTTTCTTTCAGGCTTCCCAGAGGTCTGTGCGACTAGGTGAGTCTGGTCTGGGTTTGAAGTCATTGCAGACCTGTTTAGGCCTTACCCCCAAGCAAGCCCAAGCCTGCCATCTGCTGTATATAGATAAGAACATCATGGTGCAGTAAAAGAAGCCTGGCCTTTGGAGTCAGAACAGCAGGGTGACTTGGGGTCAGACCCAGAGCACCCCATTTCCTTCTCTGTAAGATGAGGATAATAAGAGTAACAACCTTTTAGGGTTAAGGTGAGTTTTCAGCTTAGGAAGTCTGGGAATAT
|
Task1_train_9501
|
Consider this mutation in TGFBI (transforming growth factor beta induced) on Chromosome 5. Is this a benign change or a disease-causing variant?
|
Pathogenic; Inborn genetic diseases
|
TGCTGGGGCAGATTTGTGGTCATGAACATGTGCTTTGTGTCCTCTGACCATTAGACAGATTGTGGGTCACAACGTTGAGTATACAGTGGGAGCTTAATAAGTGCTTATTCCCTGGGCAGGGAGTTCTTCATTTCAGGGGTGACCACTTACATCTTCTCCTCTGGGCCCTCCTTGACCAGGCTAATTACCATTCTTGGGATTAACTCTATCTCCTTTTCCCGCAACCTGCAGGAGATGCCAAGGAACTTGCCAACATCCTGAAATACCACATTGGTGATGAAATCCTGGTTAGCGGAGGCATCGGGGCCCTGGTGCGGCTAAAGTCTCTCCAAGGTGACAAGCTGGAAGTCAGCTTGGTAAGTGTCCTGCAAATCAAAGGCTGGCTAAATTTCCCCAGGGCAGGGCTCCAGGACATATCTCACCCCCAGGATGGAATTATACACACACAACCTTCAAGTTGCAGCCCGAATCTCTGAGTGTAATTCGTCCAAAGAAAAAGAGAAAAGAGAAGAGGGTCTTCAGGGAAATCAAGTGAGATCATAGTTAGACATGAGTAAGAACTTCCAGATTTACAAGGGAATAGAGCATCTGATTTGGCATCTGAGAGAGGCTATTAGATCTTCCTTCTCTTAAGGAGGTTGTAGGCAACTAGTTATGTGACTGAAGAGATCAGTCTGTACTCACACCATCCCACCCCCCAAACCCAGGGCTTCACTGAGTTGTACCATGAACCAGACCATCCCAAGAGGCTTTTTGAGTTCTGACACTTGCTCTGTGAGCCTTCCCTTGCTCTGCACATTGATGATATAACTTTGTAACTGCACTAAGAGTGTTCCTAAAGCAGATAGCCAGCCGAGCTCCAGAAATCTCCCTGGCTGCACCTGCAGAGGCCACTGACCCCTCTGTGGAGGGACCGCTCTTCAGTGTGTGGCTGGCTTCTACTCTCTGCTCCTCTCTCTTGGTCTTCAGCCATCCATTGCTCACCAGTTTCTCACGAGGAGCATAGGAAGATATGCATGTAGGGAGGTAGGCACGGGGATGACTTGTTTGACTTTAGCAGGTCATTCAAGAATCTCCTCGCACCTGGTTTCAGATGCTGGGGTCCTGTCTGTCACAGGCTTCTGTGCCTCCTACCCCCTTGAGTTTGTCACATGGCCCTTCAGGAAGGCCTGAGATAGATTTGCCCTGGGTGGGCCTCCTATGAGAAAATCTTAAGTGAGGCACCCAGGCAAAATGGAAAGAGCCTTTTGCCCAGAGCAGGAAGCCTGTCTTCCATTTCCAGCTGTTCCACCTACTTAGCTTAAAAGAGGCACTTCGCCTGTCTTCAGTCTCAGTCTCAGTCTCCTCTTCTGTGGAATGGGACAATAATATCTACTCTCCTTATCATACACTGCTGTGAGGACTGAGTGGATCACACAAAAAAGCATTATGTAAATTGCAAAGTGCTAAATCCACACAGGAGATTTGAATTAATCCACCACACTGAAGGTCTGTCAAGGGCAGGGACTGTTTCATTCACCAGAGTATCCCCAGTCTAACACAGGACTTGGCATATGAAAAGTGTTCAGTAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGCGGATCATCTGAGGTCAGGAGTTCAAGTCCAGCCTGGCCAACGTGGTGAAACCACATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCACAGCTACTCTGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAAGATTGAAACTCCATCTCAAAAACAAAGAACAAGGAAAAAAACGAAAACTGTTCAGTAAACACTTGCTGAATGAATAAAATAAATATATAAATGTATAAATAAATGCTCTACTTTCAACCACTACTCTGTTTTTCTTTTAGAAAAACAATGTGGTGAGTGTCAACAAGGAGCCTGTTGCCGAGCCTGACATCATGGCCACAAATGGCGTGGTCCATGTCATCACCAATGTTCTGCAGCCTCCAGGTAAGTGTCGCATCCCCACTGACTCTGCAGCCAGTCCTTTTCTTCATGTGGCAGTTGGTGGAGAGAAGAAAAACTGTTCTAAACAATGATGAGAATAACATGTAATTGTGATAGTTAAACTGTGCCTATGTGACTGATTGCAGAGTGAATTGGGAGCTGTTGGTTTTGAATGCACCACACTAAGGAATGTGAGGACACATTGCTCTTTGCGGAGTTGCCCAGCTATATTAGCTCCCCTCGGACACAGCCCAGTTTTCTGTATTCGCGTGGATGCTGTCCGCGCGATTCCCAGCACTCCTCTTACAGCATCTCACCTCAGTGTATGTTCCTTGCCTCCAGTGCAGTTGAACCTCAGTCCTGCCTCTCCTCATGTGTGCATTCACCTTTCTTGGTGCTCTCTCCCCATGGGCCAAGTTCTACCATGAGTTATGAAACATTATGGAGAAAACATGTCTTTGGAAATGTGAGCCAGAAAGCCCACCAGTGCCCCTCAGTCACGGTTGTTATGAATGACATGCTAATGGTTTCACTCTGGTCAAACCTGCCTTTTCTTTCCTCTTCAGCCAACAGACCTCAGGAAAGAGGGGATGAACTTGCAGACTCTGCGCTTGAGATCTTCAAACAAGCATCAGCGTTTTCCAGGGTAAGATGCCTGCTAGGTTTGCGCCTAGCCTGAGCAGCCTCAGGTCCTCTGTTTGGGCCATAGAGGAGCCTCTCCAGCCCCTGTCTTCCTTGGCTGCTCCCCAGGGCTCTCTTAAAACTTCTCCCCACTCCCACTGAGGCATCCTCAGCCCCAGCCTGTGTCAAATTCAGAGTAAAGAACCAAGGCAACTCCCTGGCTTTCATGGGCCAAAGCGCAGGCTTTCACACCGAGGCCTCTGAGCCTCAGATCATGGGGAAGTCACTGCTGGAGAGAACAGACATAGCTCTGGAAGCCATCTGCCCAAGAGGGCAGCCCATCCCAAGTTCATCTTACAGTGGCCAGGCCTGCCCTGAGCCGGGGCCTCTGGGTCACTCTTCTGCTGTCCATGGCATTGCCCATCCTGGGTGAGGCTGGGGCTCTCCTGGGCACTGTATGTATTCTGGATACAGGGATACTGGGCTCGCTATGTGTGTGGAGCCATCCCTTCCTTGCCCCAGCCCCACCTCCCTCTCAAACCCTCTCTGGCTCTTTCTGAGCTTCCTTTCCTGCTCCCCAGCTTGCCCAGTGCTCAGTGCCCCACTTGGCTCTTTTGCTACTTCGGGTCAGGTGGAGCCTCTTGGGAATGTGAAGTGCCTTACAGAAAGATTGCACTTCAAGAGGAGAGGCTGCAGGGAGCCATCCTAAACCCAGAGGCCTGGAGCTTACTGTGTCACTTTACTTTTGTACACAGGGGTCTCCTTAGTGCCCTCGAGAAGGATTCTTGGCCCTGAGCTTCTACTCCTGAGGCCACCTCTGTGCAGCCCCAGCTCCCTCAACTCTAGGCTGTAGTCTCAGTGGGAAAGCCTGGCTTGGGGGTCTCCTAGGAATGTCCACCTGAAGGCACACTTGATAGGGGCTTGCACAACTTATGTCTGCCAAGGCCACCTGAGGAACTCCCTGGTGCCTATAAGTTCCACCTTCCCCTTCCTCTTCCTCGCCCCAGCATTTTTTCTGAGTAGGGGTGGCAATGGGCAAAGCCATTGTCATAAGCAGTTGCAGGTATAACTTTCACTAGAAAACCTGACACCTTGTGTTTTCTTTCAGGCTTCCCAGAGGTCTGTGCGACTAGGTGAGTCTGGTCTGGGTTTGAAGTCATTGCAGACCTGTTTAGGCCTTACCCCCAAGCAAGCCCAAGCCTGCCATCTGCTGTATATAGATAAGAACATCATGGTGCAGTAAAAGAAGCCTGGCCTTTGGAGTCAGAACAGCAGGGTGACTTGGGGTCAGACCCAGAGCACCCCATTTCCTTCTCTGTAAGATGAGGATAATAAGAGTAACAACCTTTTAGGGTTAAGGTGAGTTTTCAGCTTAGGAAGTCTGGGAATATTGCAAAGGG
|
TGCTGGGGCAGATTTGTGGTCATGAACATGTGCTTTGTGTCCTCTGACCATTAGACAGATTGTGGGTCACAACGTTGAGTATACAGTGGGAGCTTAATAAGTGCTTATTCCCTGGGCAGGGAGTTCTTCATTTCAGGGGTGACCACTTACATCTTCTCCTCTGGGCCCTCCTTGACCAGGCTAATTACCATTCTTGGGATTAACTCTATCTCCTTTTCCCGCAACCTGCAGGAGATGCCAAGGAACTTGCCAACATCCTGAAATACCACATTGGTGATGAAATCCTGGTTAGCGGAGGCATCGGGGCCCTGGTGCGGCTAAAGTCTCTCCAAGGTGACAAGCTGGAAGTCAGCTTGGTAAGTGTCCTGCAAATCAAAGGCTGGCTAAATTTCCCCAGGGCAGGGCTCCAGGACATATCTCACCCCCAGGATGGAATTATACACACACAACCTTCAAGTTGCAGCCCGAATCTCTGAGTGTAATTCGTCCAAAGAAAAAGAGAAAAGAGAAGAGGGTCTTCAGGGAAATCAAGTGAGATCATAGTTAGACATGAGTAAGAACTTCCAGATTTACAAGGGAATAGAGCATCTGATTTGGCATCTGAGAGAGGCTATTAGATCTTCCTTCTCTTAAGGAGGTTGTAGGCAACTAGTTATGTGACTGAAGAGATCAGTCTGTACTCACACCATCCCACCCCCCAAACCCAGGGCTTCACTGAGTTGTACCATGAACCAGACCATCCCAAGAGGCTTTTTGAGTTCTGACACTTGCTCTGTGAGCCTTCCCTTGCTCTGCACATTGATGATATAACTTTGTAACTGCACTAAGAGTGTTCCTAAAGCAGATAGCCAGCCGAGCTCCAGAAATCTCCCTGGCTGCACCTGCAGAGGCCACTGACCCCTCTGTGGAGGGACCGCTCTTCAGTGTGTGGCTGGCTTCTACTCTCTGCTCCTCTCTCTTGGTCTTCAGCCATCCATTGCTCACCAGTTTCTCACGAGGAGCATAGGAAGATATGCATGTAGGGAGGTAGGCACGGGGATGACTTGTTTGACTTTAGCAGGTCATTCAAGAATCTCCTCGCACCTGGTTTCAGATGCTGGGGTCCTGTCTGTCACAGGCTTCTGTGCCTCCTACCCCCTTGAGTTTGTCACATGGCCCTTCAGGAAGGCCTGAGATAGATTTGCCCTGGGTGGGCCTCCTATGAGAAAATCTTAAGTGAGGCACCCAGGCAAAATGGAAAGAGCCTTTTGCCCAGAGCAGGAAGCCTGTCTTCCATTTCCAGCTGTTCCACCTACTTAGCTTAAAAGAGGCACTTCGCCTGTCTTCAGTCTCAGTCTCAGTCTCCTCTTCTGTGGAATGGGACAATAATATCTACTCTCCTTATCATACACTGCTGTGAGGACTGAGTGGATCACACAAAAAAGCATTATGTAAATTGCAAAGTGCTAAATCCACACAGGAGATTTGAATTAATCCACCACACTGAAGGTCTGTCAAGGGCAGGGACTGTTTCATTCACCAGAGTATCCCCAGTCTAACACAGGACTTGGCATATGAAAAGTGTTCAGTAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGCGGATCATCTGAGGTCAGGAGTTCAAGTCCAGCCTGGCCAACGTGGTGAAACCACATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCACAGCTACTCTGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAAGATTGAAACTCCATCTCAAAAACAAAGAACAAGGAAAAAAACGAAAACTGTTCAGTAAACACTTGCTGAATGAATAAAATAAATATATAAATGTATAAATAAATGCTCTACTTTCAACCACTACTCTGTTTTTCTTTTAGAAAAACAATGTGGTGAGTGTCAACAAGGAGCCTGTTGCCGAGCCTGACATCATGGCCACAAATGGCGTGGTCCGTGTCATCACCAATGTTCTGCAGCCTCCAGGTAAGTGTCGCATCCCCACTGACTCTGCAGCCAGTCCTTTTCTTCATGTGGCAGTTGGTGGAGAGAAGAAAAACTGTTCTAAACAATGATGAGAATAACATGTAATTGTGATAGTTAAACTGTGCCTATGTGACTGATTGCAGAGTGAATTGGGAGCTGTTGGTTTTGAATGCACCACACTAAGGAATGTGAGGACACATTGCTCTTTGCGGAGTTGCCCAGCTATATTAGCTCCCCTCGGACACAGCCCAGTTTTCTGTATTCGCGTGGATGCTGTCCGCGCGATTCCCAGCACTCCTCTTACAGCATCTCACCTCAGTGTATGTTCCTTGCCTCCAGTGCAGTTGAACCTCAGTCCTGCCTCTCCTCATGTGTGCATTCACCTTTCTTGGTGCTCTCTCCCCATGGGCCAAGTTCTACCATGAGTTATGAAACATTATGGAGAAAACATGTCTTTGGAAATGTGAGCCAGAAAGCCCACCAGTGCCCCTCAGTCACGGTTGTTATGAATGACATGCTAATGGTTTCACTCTGGTCAAACCTGCCTTTTCTTTCCTCTTCAGCCAACAGACCTCAGGAAAGAGGGGATGAACTTGCAGACTCTGCGCTTGAGATCTTCAAACAAGCATCAGCGTTTTCCAGGGTAAGATGCCTGCTAGGTTTGCGCCTAGCCTGAGCAGCCTCAGGTCCTCTGTTTGGGCCATAGAGGAGCCTCTCCAGCCCCTGTCTTCCTTGGCTGCTCCCCAGGGCTCTCTTAAAACTTCTCCCCACTCCCACTGAGGCATCCTCAGCCCCAGCCTGTGTCAAATTCAGAGTAAAGAACCAAGGCAACTCCCTGGCTTTCATGGGCCAAAGCGCAGGCTTTCACACCGAGGCCTCTGAGCCTCAGATCATGGGGAAGTCACTGCTGGAGAGAACAGACATAGCTCTGGAAGCCATCTGCCCAAGAGGGCAGCCCATCCCAAGTTCATCTTACAGTGGCCAGGCCTGCCCTGAGCCGGGGCCTCTGGGTCACTCTTCTGCTGTCCATGGCATTGCCCATCCTGGGTGAGGCTGGGGCTCTCCTGGGCACTGTATGTATTCTGGATACAGGGATACTGGGCTCGCTATGTGTGTGGAGCCATCCCTTCCTTGCCCCAGCCCCACCTCCCTCTCAAACCCTCTCTGGCTCTTTCTGAGCTTCCTTTCCTGCTCCCCAGCTTGCCCAGTGCTCAGTGCCCCACTTGGCTCTTTTGCTACTTCGGGTCAGGTGGAGCCTCTTGGGAATGTGAAGTGCCTTACAGAAAGATTGCACTTCAAGAGGAGAGGCTGCAGGGAGCCATCCTAAACCCAGAGGCCTGGAGCTTACTGTGTCACTTTACTTTTGTACACAGGGGTCTCCTTAGTGCCCTCGAGAAGGATTCTTGGCCCTGAGCTTCTACTCCTGAGGCCACCTCTGTGCAGCCCCAGCTCCCTCAACTCTAGGCTGTAGTCTCAGTGGGAAAGCCTGGCTTGGGGGTCTCCTAGGAATGTCCACCTGAAGGCACACTTGATAGGGGCTTGCACAACTTATGTCTGCCAAGGCCACCTGAGGAACTCCCTGGTGCCTATAAGTTCCACCTTCCCCTTCCTCTTCCTCGCCCCAGCATTTTTTCTGAGTAGGGGTGGCAATGGGCAAAGCCATTGTCATAAGCAGTTGCAGGTATAACTTTCACTAGAAAACCTGACACCTTGTGTTTTCTTTCAGGCTTCCCAGAGGTCTGTGCGACTAGGTGAGTCTGGTCTGGGTTTGAAGTCATTGCAGACCTGTTTAGGCCTTACCCCCAAGCAAGCCCAAGCCTGCCATCTGCTGTATATAGATAAGAACATCATGGTGCAGTAAAAGAAGCCTGGCCTTTGGAGTCAGAACAGCAGGGTGACTTGGGGTCAGACCCAGAGCACCCCATTTCCTTCTCTGTAAGATGAGGATAATAAGAGTAACAACCTTTTAGGGTTAAGGTGAGTTTTCAGCTTAGGAAGTCTGGGAATATTGCAAAGGG
|
Task1_train_9502
|
With a mutation on Chromosome 5 in gene KLHL3 (kelch like family member 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; not provided
|
GGCAGGCATTGTGCTTAGCTCTTCACAAGTATTACTGCATTTCATTCTCACAGCACCCTAAAAGGCTTAGTCTAATTTTATTCCCATTTTACAAATAAGACAACAGGGGTTCAGTATGATAGAATACCTGGCCCGGAGACCCAGGGCTAGTGGCAGAGCTGGGATTCAAATTCATATCTGACTCCAATATCCATCTGTAGAAGAAGCAGCAGCTATTCAACCCCCACTCCCACTACCACCAATACAGGACTATATGCGTGAGTTCACAAGGTTCATACAACTTTGCATCCTTTTTTAACCTAACAGGCTATTACAAATGTTTTCTCATAACATTAAAAATCCATAAACTATATAAATATCCCATAGATTATTAGCTATTTCCCTCATGTCAGACATTAAGTAATTCTCAGTTTTTTGCTATTACAAGTAAGGCCCCAATAAATTTGTCCATAAATCTTTGTATTTTGGAGCATTTCCTTAGACTTTAAGATAATAGACTCAGTAAGTGGGTTTGAACATAAAATTGCAGGTTTGCTTGTCTCCTTCCTACCTACTTCTGGAGAGGGCAGACAATGAAGAAAGGGACATGAAATATTCAGCATATATATGAAATTCTAACCACCCACACTTAACTCTTCCCCTCTCATTAAGGCACACATGGAGTCAAGGGAAGATTCCTCACTTGTCTCACTCATCCCAGAACAGAATTACTCCAGGACCAAACTTCTTCTAAAATGTTTTATACTTAGCCAAGAAAAGTATTACAAGGTGAAAAAAACTCTAAAGGAAGAAAAAAGTTAAAGTTCATTACAACAGAAGTCTTATGTTGAAAGAATGTGCTGCAAACTCCTTCAAATTTGCACAGCACAATCTTCCTCTGCAGTCAAACAAGATGGAATGACTGACCTTTATAATGCAAAATGGGAATCGGAAGAATATTCCTGGAGTCGTGGTATGGATTAAAAGAGATAATGACTATAAAATACTTTGGATAATGCCTGGTATGTTCTGTGCATGCTGGATCAATAATGTTATCTCTATTCCAGGTTCTGGAAAACCAGATACAAGGAACTGAACTACACCATGGATATATATTTGCTCATCTCCCCATGGACCCAACCTTAGTAGTACCAACTCTGATGCCACCCCTGCCCCTGCTACTCACCAAACCCCTCACACACACTCCCCAAGAAGCTTCCACACCCGCCTGGTGCCTTACTCTAAGGCTTACCCTGAGCTGGGGTAGCACAAAGGGCATGGACTTAGAACTCTGGGTTTGAACTCTGACTTTGCCATTTATTAGCTGTGTGGCCTTCAGCAAGTTACTTAAACTCTCCAAACCTGTTATATCATCCATAAAATAGACGGATAGAGTCCCATTCAGCCCAAGGGTTGTTGAAAAGATGAGAACAAATGCACACTCTGTTCCTAACACACTGCCCCATGGCACGGGGCCAGCCACGCAGTAAAGGACAGCTATTTGTGTGATTGTGATCCACCCTCAAAGTTTAATTGAGCCTATCTCCTCCAGGAAGGGTTCCCTGGCTTTGCCAGTTCTCACCAGTCTTTCATGTGCTAAAACCTGTCTAGCGTATGTCATTTAGAACTTGTATATGCATCATCTTGTCTTCCCAGTTGTCCAATTCGACCCTGGACAACAACAATCGCATCTTATGCCATCTAGGAGCCTGGCACAAAGTAAACCAGGAATGGCAATGAAATTCTAAAATCACTTGTGACAACTCAGTTCAGTTGGAAGTGGTTCGATGGAATGAATGTTATAAATTCTGAGGCTATCTTCAGGTTCACAGGGTTCGGGCAGGGGCAGGGGTTAATAAGTGCTAATTATCAATATCTGTCATGAGTGCAGAATGAAGGAGTGGTGGCCATGTAACAATTACCTGTCATCCCTGGAGGAGGCACTCAGGCCCAAGTTAAGCAAGCTCACATCCCCTCATCCCACTGGCCCACCCAACCCTCATTCCCCCAGTGTGTTGGAGGCCTCTCGGATGGGCATGGAGATGGCACACACTGACCTGCATAGCTCCGCCCCGTGCTCATGTTCGTTGGAAGCAGCGTCCATTTGTCAGTGACAGGATTGTAGTACTCCACCGAAGCCAAGTTGCAGGATCCATCATCCCCTCCAACCACATACAGGAGCCCATTTACTGCACAGACCCCTGTGAGTCAAACAAAAGCCATGGGAGACATCACAGCAGGTGCACTAAGAGATCAGAATTGATCAAGAGACAAATCTGGATAGCCTGGGAGGCTCTTTTCCTCCCTTCATGGCAATACAACAGAGATTTGGCTCCACAGGTTTGAGTTTGCTAAGTGAAAGAAAATATTGACAACAGCCACTGGGCTCCAAGGATCCTTCTTCCTAACAGGATCATTTCTCTGACCAGGGAGTTTTGATTACTTATAACGTGTATGCCCCCCGCCACACACATACCTATACTATAAGTATGTAGAGCATATGGGCACAGACCCCTCTTTAATGGAAAGGTGTATACAGACCTCCTGTGCCAGGCCTGAGCTAGGGAATAAGACAATTCAGGGGACTTCATGCATGCTACTCCTTCTCTGCTGCTAAGTTTTTCCCTGATAAGCCCTATGTTATATTCACACTGTGTGATGCTGATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAATTAGATTAAGGGATTGGTGATACTCTAAAAAGTAGTAATTATCAGTGTTGCTGAAGGTACTCTCAAATACTGGTGAGACGAAAAAATGGACACCCTCCTGGATGGCGTCTAAAATACATGTGCTTCCTCTGATTAAAAAATTCTACTTCTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCGTGATGGCGCATAACTGTGGTCCCACCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCCCAGGAGGCAGAGTTGCAGAGCCAAGATTATGCCACTACAATCTAGCCTGAGAGAGCGAGATCCTGTCTCAAAAAAAAAAAAATCCATTTCTGGCCTTTTATTCTAAAGAAATAATTTTAAATGTGTGTACTAATTTAGCTATAAAGACCATTTATAATCACTCAAGTATTACTTATAGGATAGAAAAGATGGAAATAACCTGTGTCCAATAGTAGATTGGTTGTTTAAATTATGATATAGTCATTTAAAATAATATCATATAAATAAGTTTAGTGTTGTAATAAGACGTTCATGAGAGATTGTAAAGTGAGTTTTTTTAAAAAACAGGTTATAAAATAGTGTTATAGTGTAATTCCATTTTTGTTATTAAAAAATAGAAATATCTATGTATGAATTTTATACAAACACACATTTACATCTAAACTGAATTCCCAGGTTCTAGATAGACTAGCTGCCTTAAGGGTCCTGTAATTCTTTGCTCATGTGGCTTAAAGCCAAATGAGAACTTGGCAGCAGGCTTAGGCAATGAGTAAATTAGTAAATATCACCACCCCCCCCCCCGGTTTACACTTCCAAGTCAGCCACGAATGGGCTTAGCAAACAGGTAATATGAGAATAATGAAAATGGATCTGCCTGAAAGTCACCTGTGTGTCCTTCCAGCCTGGGAAGTTGGGCTAAGCCAACACTTTCCTAAAGCAAAGAGGCATAAAGGATATACTGACACAGTACACGACCCACAAGGCAAAGCTCAAAAAGGAAATAGCTTAAAAGGGGCCTCATGCTCCAAGAAATATAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAGGAAAGCAAAGACAGGAATACAAAGAAAGCAATAA
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GGCAGGCATTGTGCTTAGCTCTTCACAAGTATTACTGCATTTCATTCTCACAGCACCCTAAAAGGCTTAGTCTAATTTTATTCCCATTTTACAAATAAGACAACAGGGGTTCAGTATGATAGAATACCTGGCCCGGAGACCCAGGGCTAGTGGCAGAGCTGGGATTCAAATTCATATCTGACTCCAATATCCATCTGTAGAAGAAGCAGCAGCTATTCAACCCCCACTCCCACTACCACCAATACAGGACTATATGCGTGAGTTCACAAGGTTCATACAACTTTGCATCCTTTTTTAACCTAACAGGCTATTACAAATGTTTTCTCATAACATTAAAAATCCATAAACTATATAAATATCCCATAGATTATTAGCTATTTCCCTCATGTCAGACATTAAGTAATTCTCAGTTTTTTGCTATTACAAGTAAGGCCCCAATAAATTTGTCCATAAATCTTTGTATTTTGGAGCATTTCCTTAGACTTTAAGATAATAGACTCAGTAAGTGGGTTTGAACATAAAATTGCAGGTTTGCTTGTCTCCTTCCTACCTACTTCTGGAGAGGGCAGACAATGAAGAAAGGGACATGAAATATTCAGCATATATATGAAATTCTAACCACCCACACTTAACTCTTCCCCTCTCATTAAGGCACACATGGAGTCAAGGGAAGATTCCTCACTTGTCTCACTCATCCCAGAACAGAATTACTCCAGGACCAAACTTCTTCTAAAATGTTTTATACTTAGCCAAGAAAAGTATTACAAGGTGAAAAAAACTCTAAAGGAAGAAAAAAGTTAAAGTTCATTACAACAGAAGTCTTATGTTGAAAGAATGTGCTGCAAACTCCTTCAAATTTGCACAGCACAATCTTCCTCTGCAGTCAAACAAGATGGAATGACTGACCTTTATAATGCAAAATGGGAATCGGAAGAATATTCCTGGAGTCGTGGTATGGATTAAAAGAGATAATGACTATAAAATACTTTGGATAATGCCTGGTATGTTCTGTGCATGCTGGATCAATAATGTTATCTCTATTCCAGGTTCTGGAAAACCAGATACAAGGAACTGAACTACACCATGGATATATATTTGCTCATCTCCCCATGGACCCAACCTTAGTAGTACCAACTCTGATGCCACCCCTGCCCCTGCTACTCACCAAACCCCTCACACACACTCCCCAAGAAGCTTCCACACCCGCCTGGTGCCTTACTCTAAGGCTTACCCTGAGCTGGGGTAGCACAAAGGGCATGGACTTAGAACTCTGGGTTTGAACTCTGACTTTGCCATTTATTAGCTGTGTGGCCTTCAGCAAGTTACTTAAACTCTCCAAACCTGTTATATCATCCATAAAATAGACGGATAGAGTCCCATTCAGCCCAAGGGTTGTTGAAAAGATGAGAACAAATGCACACTCTGTTCCTAACACACTGCCCCATGGCACGGGGCCAGCCACGCAGTAAAGGACAGCTATTTGTGTGATTGTGATCCACCCTCAAAGTTTAATTGAGCCTATCTCCTCCAGGAAGGGTTCCCTGGCTTTGCCAGTTCTCACCAGTCTTTCATGTGCTAAAACCTGTCTAGCGTATGTCATTTAGAACTTGTATATGCATCATCTTGTCTTCCCAGTTGTCCAATTCGACCCTGGACAACAACAATCGCATCTTATGCCATCTAGGAGCCTGGCACAAAGTAAACCAGGAATGGCAATGAAATTCTAAAATCACTTGTGACAACTCAGTTCAGTTGGAAGTGGTTCGATGGAATGAATGTTATAAATTCTGAGGCTATCTTCAGGTTCACAGGGTTCGGGCAGGGGCAGGGGTTAATAAGTGCTAATTATCAATATCTGTCATGAGTGCAGAATGAAGGAGTGGTGGCCATGTAACAATTACCTGTCATCCCTGGAGGAGGCACTCAGGCCCAAGTTAAGCAAGCTCACATCCCCTCATCCCACTGGCCCACCCAACCCTCATTCCCCCAGTGTGTTGGAGGCCTCTCGGATGGGCATGGAGATGGCACACACTGACCTGCATAGCTCCACCCCGTGCTCATGTTCGTTGGAAGCAGCGTCCATTTGTCAGTGACAGGATTGTAGTACTCCACCGAAGCCAAGTTGCAGGATCCATCATCCCCTCCAACCACATACAGGAGCCCATTTACTGCACAGACCCCTGTGAGTCAAACAAAAGCCATGGGAGACATCACAGCAGGTGCACTAAGAGATCAGAATTGATCAAGAGACAAATCTGGATAGCCTGGGAGGCTCTTTTCCTCCCTTCATGGCAATACAACAGAGATTTGGCTCCACAGGTTTGAGTTTGCTAAGTGAAAGAAAATATTGACAACAGCCACTGGGCTCCAAGGATCCTTCTTCCTAACAGGATCATTTCTCTGACCAGGGAGTTTTGATTACTTATAACGTGTATGCCCCCCGCCACACACATACCTATACTATAAGTATGTAGAGCATATGGGCACAGACCCCTCTTTAATGGAAAGGTGTATACAGACCTCCTGTGCCAGGCCTGAGCTAGGGAATAAGACAATTCAGGGGACTTCATGCATGCTACTCCTTCTCTGCTGCTAAGTTTTTCCCTGATAAGCCCTATGTTATATTCACACTGTGTGATGCTGATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAATTAGATTAAGGGATTGGTGATACTCTAAAAAGTAGTAATTATCAGTGTTGCTGAAGGTACTCTCAAATACTGGTGAGACGAAAAAATGGACACCCTCCTGGATGGCGTCTAAAATACATGTGCTTCCTCTGATTAAAAAATTCTACTTCTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCGTGATGGCGCATAACTGTGGTCCCACCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCCCAGGAGGCAGAGTTGCAGAGCCAAGATTATGCCACTACAATCTAGCCTGAGAGAGCGAGATCCTGTCTCAAAAAAAAAAAAATCCATTTCTGGCCTTTTATTCTAAAGAAATAATTTTAAATGTGTGTACTAATTTAGCTATAAAGACCATTTATAATCACTCAAGTATTACTTATAGGATAGAAAAGATGGAAATAACCTGTGTCCAATAGTAGATTGGTTGTTTAAATTATGATATAGTCATTTAAAATAATATCATATAAATAAGTTTAGTGTTGTAATAAGACGTTCATGAGAGATTGTAAAGTGAGTTTTTTTAAAAAACAGGTTATAAAATAGTGTTATAGTGTAATTCCATTTTTGTTATTAAAAAATAGAAATATCTATGTATGAATTTTATACAAACACACATTTACATCTAAACTGAATTCCCAGGTTCTAGATAGACTAGCTGCCTTAAGGGTCCTGTAATTCTTTGCTCATGTGGCTTAAAGCCAAATGAGAACTTGGCAGCAGGCTTAGGCAATGAGTAAATTAGTAAATATCACCACCCCCCCCCCCGGTTTACACTTCCAAGTCAGCCACGAATGGGCTTAGCAAACAGGTAATATGAGAATAATGAAAATGGATCTGCCTGAAAGTCACCTGTGTGTCCTTCCAGCCTGGGAAGTTGGGCTAAGCCAACACTTTCCTAAAGCAAAGAGGCATAAAGGATATACTGACACAGTACACGACCCACAAGGCAAAGCTCAAAAAGGAAATAGCTTAAAAGGGGCCTCATGCTCCAAGAAATATAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAGGAAAGCAAAGACAGGAATACAAAGAAAGCAATAA
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Task1_train_9503
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The variant affects gene KLHL3 (kelch like family member 3), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; not provided
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CACCCTAAAAGGCTTAGTCTAATTTTATTCCCATTTTACAAATAAGACAACAGGGGTTCAGTATGATAGAATACCTGGCCCGGAGACCCAGGGCTAGTGGCAGAGCTGGGATTCAAATTCATATCTGACTCCAATATCCATCTGTAGAAGAAGCAGCAGCTATTCAACCCCCACTCCCACTACCACCAATACAGGACTATATGCGTGAGTTCACAAGGTTCATACAACTTTGCATCCTTTTTTAACCTAACAGGCTATTACAAATGTTTTCTCATAACATTAAAAATCCATAAACTATATAAATATCCCATAGATTATTAGCTATTTCCCTCATGTCAGACATTAAGTAATTCTCAGTTTTTTGCTATTACAAGTAAGGCCCCAATAAATTTGTCCATAAATCTTTGTATTTTGGAGCATTTCCTTAGACTTTAAGATAATAGACTCAGTAAGTGGGTTTGAACATAAAATTGCAGGTTTGCTTGTCTCCTTCCTACCTACTTCTGGAGAGGGCAGACAATGAAGAAAGGGACATGAAATATTCAGCATATATATGAAATTCTAACCACCCACACTTAACTCTTCCCCTCTCATTAAGGCACACATGGAGTCAAGGGAAGATTCCTCACTTGTCTCACTCATCCCAGAACAGAATTACTCCAGGACCAAACTTCTTCTAAAATGTTTTATACTTAGCCAAGAAAAGTATTACAAGGTGAAAAAAACTCTAAAGGAAGAAAAAAGTTAAAGTTCATTACAACAGAAGTCTTATGTTGAAAGAATGTGCTGCAAACTCCTTCAAATTTGCACAGCACAATCTTCCTCTGCAGTCAAACAAGATGGAATGACTGACCTTTATAATGCAAAATGGGAATCGGAAGAATATTCCTGGAGTCGTGGTATGGATTAAAAGAGATAATGACTATAAAATACTTTGGATAATGCCTGGTATGTTCTGTGCATGCTGGATCAATAATGTTATCTCTATTCCAGGTTCTGGAAAACCAGATACAAGGAACTGAACTACACCATGGATATATATTTGCTCATCTCCCCATGGACCCAACCTTAGTAGTACCAACTCTGATGCCACCCCTGCCCCTGCTACTCACCAAACCCCTCACACACACTCCCCAAGAAGCTTCCACACCCGCCTGGTGCCTTACTCTAAGGCTTACCCTGAGCTGGGGTAGCACAAAGGGCATGGACTTAGAACTCTGGGTTTGAACTCTGACTTTGCCATTTATTAGCTGTGTGGCCTTCAGCAAGTTACTTAAACTCTCCAAACCTGTTATATCATCCATAAAATAGACGGATAGAGTCCCATTCAGCCCAAGGGTTGTTGAAAAGATGAGAACAAATGCACACTCTGTTCCTAACACACTGCCCCATGGCACGGGGCCAGCCACGCAGTAAAGGACAGCTATTTGTGTGATTGTGATCCACCCTCAAAGTTTAATTGAGCCTATCTCCTCCAGGAAGGGTTCCCTGGCTTTGCCAGTTCTCACCAGTCTTTCATGTGCTAAAACCTGTCTAGCGTATGTCATTTAGAACTTGTATATGCATCATCTTGTCTTCCCAGTTGTCCAATTCGACCCTGGACAACAACAATCGCATCTTATGCCATCTAGGAGCCTGGCACAAAGTAAACCAGGAATGGCAATGAAATTCTAAAATCACTTGTGACAACTCAGTTCAGTTGGAAGTGGTTCGATGGAATGAATGTTATAAATTCTGAGGCTATCTTCAGGTTCACAGGGTTCGGGCAGGGGCAGGGGTTAATAAGTGCTAATTATCAATATCTGTCATGAGTGCAGAATGAAGGAGTGGTGGCCATGTAACAATTACCTGTCATCCCTGGAGGAGGCACTCAGGCCCAAGTTAAGCAAGCTCACATCCCCTCATCCCACTGGCCCACCCAACCCTCATTCCCCCAGTGTGTTGGAGGCCTCTCGGATGGGCATGGAGATGGCACACACTGACCTGCATAGCTCCGCCCCGTGCTCATGTTCGTTGGAAGCAGCGTCCATTTGTCAGTGACAGGATTGTAGTACTCCACCGAAGCCAAGTTGCAGGATCCATCATCCCCTCCAACCACATACAGGAGCCCATTTACTGCACAGACCCCTGTGAGTCAAACAAAAGCCATGGGAGACATCACAGCAGGTGCACTAAGAGATCAGAATTGATCAAGAGACAAATCTGGATAGCCTGGGAGGCTCTTTTCCTCCCTTCATGGCAATACAACAGAGATTTGGCTCCACAGGTTTGAGTTTGCTAAGTGAAAGAAAATATTGACAACAGCCACTGGGCTCCAAGGATCCTTCTTCCTAACAGGATCATTTCTCTGACCAGGGAGTTTTGATTACTTATAACGTGTATGCCCCCCGCCACACACATACCTATACTATAAGTATGTAGAGCATATGGGCACAGACCCCTCTTTAATGGAAAGGTGTATACAGACCTCCTGTGCCAGGCCTGAGCTAGGGAATAAGACAATTCAGGGGACTTCATGCATGCTACTCCTTCTCTGCTGCTAAGTTTTTCCCTGATAAGCCCTATGTTATATTCACACTGTGTGATGCTGATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAATTAGATTAAGGGATTGGTGATACTCTAAAAAGTAGTAATTATCAGTGTTGCTGAAGGTACTCTCAAATACTGGTGAGACGAAAAAATGGACACCCTCCTGGATGGCGTCTAAAATACATGTGCTTCCTCTGATTAAAAAATTCTACTTCTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCGTGATGGCGCATAACTGTGGTCCCACCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCCCAGGAGGCAGAGTTGCAGAGCCAAGATTATGCCACTACAATCTAGCCTGAGAGAGCGAGATCCTGTCTCAAAAAAAAAAAAATCCATTTCTGGCCTTTTATTCTAAAGAAATAATTTTAAATGTGTGTACTAATTTAGCTATAAAGACCATTTATAATCACTCAAGTATTACTTATAGGATAGAAAAGATGGAAATAACCTGTGTCCAATAGTAGATTGGTTGTTTAAATTATGATATAGTCATTTAAAATAATATCATATAAATAAGTTTAGTGTTGTAATAAGACGTTCATGAGAGATTGTAAAGTGAGTTTTTTTAAAAAACAGGTTATAAAATAGTGTTATAGTGTAATTCCATTTTTGTTATTAAAAAATAGAAATATCTATGTATGAATTTTATACAAACACACATTTACATCTAAACTGAATTCCCAGGTTCTAGATAGACTAGCTGCCTTAAGGGTCCTGTAATTCTTTGCTCATGTGGCTTAAAGCCAAATGAGAACTTGGCAGCAGGCTTAGGCAATGAGTAAATTAGTAAATATCACCACCCCCCCCCCCGGTTTACACTTCCAAGTCAGCCACGAATGGGCTTAGCAAACAGGTAATATGAGAATAATGAAAATGGATCTGCCTGAAAGTCACCTGTGTGTCCTTCCAGCCTGGGAAGTTGGGCTAAGCCAACACTTTCCTAAAGCAAAGAGGCATAAAGGATATACTGACACAGTACACGACCCACAAGGCAAAGCTCAAAAAGGAAATAGCTTAAAAGGGGCCTCATGCTCCAAGAAATATAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAGGAAAGCAAAGACAGGAATACAAAGAAAGCAATAAGGAAAGGAGAACTCATCAAGGGTCCAACTGTCCCTGCAAGGAAGGAGACTGCT
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CACCCTAAAAGGCTTAGTCTAATTTTATTCCCATTTTACAAATAAGACAACAGGGGTTCAGTATGATAGAATACCTGGCCCGGAGACCCAGGGCTAGTGGCAGAGCTGGGATTCAAATTCATATCTGACTCCAATATCCATCTGTAGAAGAAGCAGCAGCTATTCAACCCCCACTCCCACTACCACCAATACAGGACTATATGCGTGAGTTCACAAGGTTCATACAACTTTGCATCCTTTTTTAACCTAACAGGCTATTACAAATGTTTTCTCATAACATTAAAAATCCATAAACTATATAAATATCCCATAGATTATTAGCTATTTCCCTCATGTCAGACATTAAGTAATTCTCAGTTTTTTGCTATTACAAGTAAGGCCCCAATAAATTTGTCCATAAATCTTTGTATTTTGGAGCATTTCCTTAGACTTTAAGATAATAGACTCAGTAAGTGGGTTTGAACATAAAATTGCAGGTTTGCTTGTCTCCTTCCTACCTACTTCTGGAGAGGGCAGACAATGAAGAAAGGGACATGAAATATTCAGCATATATATGAAATTCTAACCACCCACACTTAACTCTTCCCCTCTCATTAAGGCACACATGGAGTCAAGGGAAGATTCCTCACTTGTCTCACTCATCCCAGAACAGAATTACTCCAGGACCAAACTTCTTCTAAAATGTTTTATACTTAGCCAAGAAAAGTATTACAAGGTGAAAAAAACTCTAAAGGAAGAAAAAAGTTAAAGTTCATTACAACAGAAGTCTTATGTTGAAAGAATGTGCTGCAAACTCCTTCAAATTTGCACAGCACAATCTTCCTCTGCAGTCAAACAAGATGGAATGACTGACCTTTATAATGCAAAATGGGAATCGGAAGAATATTCCTGGAGTCGTGGTATGGATTAAAAGAGATAATGACTATAAAATACTTTGGATAATGCCTGGTATGTTCTGTGCATGCTGGATCAATAATGTTATCTCTATTCCAGGTTCTGGAAAACCAGATACAAGGAACTGAACTACACCATGGATATATATTTGCTCATCTCCCCATGGACCCAACCTTAGTAGTACCAACTCTGATGCCACCCCTGCCCCTGCTACTCACCAAACCCCTCACACACACTCCCCAAGAAGCTTCCACACCCGCCTGGTGCCTTACTCTAAGGCTTACCCTGAGCTGGGGTAGCACAAAGGGCATGGACTTAGAACTCTGGGTTTGAACTCTGACTTTGCCATTTATTAGCTGTGTGGCCTTCAGCAAGTTACTTAAACTCTCCAAACCTGTTATATCATCCATAAAATAGACGGATAGAGTCCCATTCAGCCCAAGGGTTGTTGAAAAGATGAGAACAAATGCACACTCTGTTCCTAACACACTGCCCCATGGCACGGGGCCAGCCACGCAGTAAAGGACAGCTATTTGTGTGATTGTGATCCACCCTCAAAGTTTAATTGAGCCTATCTCCTCCAGGAAGGGTTCCCTGGCTTTGCCAGTTCTCACCAGTCTTTCATGTGCTAAAACCTGTCTAGCGTATGTCATTTAGAACTTGTATATGCATCATCTTGTCTTCCCAGTTGTCCAATTCGACCCTGGACAACAACAATCGCATCTTATGCCATCTAGGAGCCTGGCACAAAGTAAACCAGGAATGGCAATGAAATTCTAAAATCACTTGTGACAACTCAGTTCAGTTGGAAGTGGTTCGATGGAATGAATGTTATAAATTCTGAGGCTATCTTCAGGTTCACAGGGTTCGGGCAGGGGCAGGGGTTAATAAGTGCTAATTATCAATATCTGTCATGAGTGCAGAATGAAGGAGTGGTGGCCATGTAACAATTACCTGTCATCCCTGGAGGAGGCACTCAGGCCCAAGTTAAGCAAGCTCACATCCCCTCATCCCACTGGCCCACCCAACCCTCATTCCCCCAGTGTGTTGGAGGCCTCTCGGATGGGCATGGAGATGGCACACACTGACCTGCATAGCTCCGCCCCGTGCTCATGTTCGTTGGAAGCAGCGTCCATTTGTCAGTGACAGGATTGCAGTACTCCACCGAAGCCAAGTTGCAGGATCCATCATCCCCTCCAACCACATACAGGAGCCCATTTACTGCACAGACCCCTGTGAGTCAAACAAAAGCCATGGGAGACATCACAGCAGGTGCACTAAGAGATCAGAATTGATCAAGAGACAAATCTGGATAGCCTGGGAGGCTCTTTTCCTCCCTTCATGGCAATACAACAGAGATTTGGCTCCACAGGTTTGAGTTTGCTAAGTGAAAGAAAATATTGACAACAGCCACTGGGCTCCAAGGATCCTTCTTCCTAACAGGATCATTTCTCTGACCAGGGAGTTTTGATTACTTATAACGTGTATGCCCCCCGCCACACACATACCTATACTATAAGTATGTAGAGCATATGGGCACAGACCCCTCTTTAATGGAAAGGTGTATACAGACCTCCTGTGCCAGGCCTGAGCTAGGGAATAAGACAATTCAGGGGACTTCATGCATGCTACTCCTTCTCTGCTGCTAAGTTTTTCCCTGATAAGCCCTATGTTATATTCACACTGTGTGATGCTGATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAATTAGATTAAGGGATTGGTGATACTCTAAAAAGTAGTAATTATCAGTGTTGCTGAAGGTACTCTCAAATACTGGTGAGACGAAAAAATGGACACCCTCCTGGATGGCGTCTAAAATACATGTGCTTCCTCTGATTAAAAAATTCTACTTCTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCGTGATGGCGCATAACTGTGGTCCCACCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCCCAGGAGGCAGAGTTGCAGAGCCAAGATTATGCCACTACAATCTAGCCTGAGAGAGCGAGATCCTGTCTCAAAAAAAAAAAAATCCATTTCTGGCCTTTTATTCTAAAGAAATAATTTTAAATGTGTGTACTAATTTAGCTATAAAGACCATTTATAATCACTCAAGTATTACTTATAGGATAGAAAAGATGGAAATAACCTGTGTCCAATAGTAGATTGGTTGTTTAAATTATGATATAGTCATTTAAAATAATATCATATAAATAAGTTTAGTGTTGTAATAAGACGTTCATGAGAGATTGTAAAGTGAGTTTTTTTAAAAAACAGGTTATAAAATAGTGTTATAGTGTAATTCCATTTTTGTTATTAAAAAATAGAAATATCTATGTATGAATTTTATACAAACACACATTTACATCTAAACTGAATTCCCAGGTTCTAGATAGACTAGCTGCCTTAAGGGTCCTGTAATTCTTTGCTCATGTGGCTTAAAGCCAAATGAGAACTTGGCAGCAGGCTTAGGCAATGAGTAAATTAGTAAATATCACCACCCCCCCCCCCGGTTTACACTTCCAAGTCAGCCACGAATGGGCTTAGCAAACAGGTAATATGAGAATAATGAAAATGGATCTGCCTGAAAGTCACCTGTGTGTCCTTCCAGCCTGGGAAGTTGGGCTAAGCCAACACTTTCCTAAAGCAAAGAGGCATAAAGGATATACTGACACAGTACACGACCCACAAGGCAAAGCTCAAAAAGGAAATAGCTTAAAAGGGGCCTCATGCTCCAAGAAATATAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAGGAAAGCAAAGACAGGAATACAAAGAAAGCAATAAGGAAAGGAGAACTCATCAAGGGTCCAACTGTCCCTGCAAGGAAGGAGACTGCT
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Task1_train_9504
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A mutation found in KLHL3 (kelch like family member 3) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Pseudohypoaldosteronism type 2D
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GAGCTAGGGAATAAGACAATTCAGGGGACTTCATGCATGCTACTCCTTCTCTGCTGCTAAGTTTTTCCCTGATAAGCCCTATGTTATATTCACACTGTGTGATGCTGATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAATTAGATTAAGGGATTGGTGATACTCTAAAAAGTAGTAATTATCAGTGTTGCTGAAGGTACTCTCAAATACTGGTGAGACGAAAAAATGGACACCCTCCTGGATGGCGTCTAAAATACATGTGCTTCCTCTGATTAAAAAATTCTACTTCTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCGTGATGGCGCATAACTGTGGTCCCACCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCCCAGGAGGCAGAGTTGCAGAGCCAAGATTATGCCACTACAATCTAGCCTGAGAGAGCGAGATCCTGTCTCAAAAAAAAAAAAATCCATTTCTGGCCTTTTATTCTAAAGAAATAATTTTAAATGTGTGTACTAATTTAGCTATAAAGACCATTTATAATCACTCAAGTATTACTTATAGGATAGAAAAGATGGAAATAACCTGTGTCCAATAGTAGATTGGTTGTTTAAATTATGATATAGTCATTTAAAATAATATCATATAAATAAGTTTAGTGTTGTAATAAGACGTTCATGAGAGATTGTAAAGTGAGTTTTTTTAAAAAACAGGTTATAAAATAGTGTTATAGTGTAATTCCATTTTTGTTATTAAAAAATAGAAATATCTATGTATGAATTTTATACAAACACACATTTACATCTAAACTGAATTCCCAGGTTCTAGATAGACTAGCTGCCTTAAGGGTCCTGTAATTCTTTGCTCATGTGGCTTAAAGCCAAATGAGAACTTGGCAGCAGGCTTAGGCAATGAGTAAATTAGTAAATATCACCACCCCCCCCCCCGGTTTACACTTCCAAGTCAGCCACGAATGGGCTTAGCAAACAGGTAATATGAGAATAATGAAAATGGATCTGCCTGAAAGTCACCTGTGTGTCCTTCCAGCCTGGGAAGTTGGGCTAAGCCAACACTTTCCTAAAGCAAAGAGGCATAAAGGATATACTGACACAGTACACGACCCACAAGGCAAAGCTCAAAAAGGAAATAGCTTAAAAGGGGCCTCATGCTCCAAGAAATATAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAGGAAAGCAAAGACAGGAATACAAAGAAAGCAATAAGGAAAGGAGAACTCATCAAGGGTCCAACTGTCCCTGCAAGGAAGGAGACTGCTTTCAAGTAGGAAGTGAGAAGTTCTCCTAGCCAGGCACTGGCAAAGAAAAGATAGAACCAAGTGCCATTGTCTGGCCCTTGTCCACAGAGCCCTGTCCTTAGCTACCTACTAAAGCTGTTGGGCAGCGGGCACTGATGGCAACCAGAGGACTTTCCCAGGTCTGTGCTCATCTGTGTGCGGTAAAAGTCATCACCCTTCACTGCGGGGAAAGGGGATCCTCTGCATCTAGGTTGCAGGATCTGCAGCTAGCTTTTGGGGTCTCAATTTCTCCCCTCCTCTAATCAAGAGCCCACCTGGCAAATGCACACTCCCTGTTCAGGATATACGCTCAGCTCCAGACCCTGGGAAATCTCCCTGCTGTTTAGAGCCAGTGTCTTCAGGGAGAAAAGGCACACAACCCCCAAAGGGGAGATGGAGAGAGCAGTCATTACCTGCGTTGCGCCGGCACATGTTCATGTCTGCCACTTGCTTCCAGGTATTTGTTCCAGGATCGTAAACCTCAACGCTCTTCCTCACCAAAGGCCCATCATGCCCACCTGTGGCGTACAGCTGTCCGCTAAGCACTCCAACCCCTGAAAGGCAGAGCACAGCATCCCAGCCTCATGCTGACTACAGTAACCAGAAATCAGGAGGCCTGGCATCCAGTCCTGGACAGCCCTGACCAGTGAGGGGACTTGGGGAGTGCCATTTTGTCTCCCTGGACCTCAGTGTCCTCATCTGTAAAACAAATATAATGACACCCTACCTGCCTCCTCATAAGACTAGCAACCTCAAAACTTTGAAATATAATGCAAATGTGACCCAAATTCTGTTTTTAAAAAACATTAAAAAATATATATATATATATACACACACACAGACAGACAGACATACATACATACATACATACATACATACATACATACATACGGGAGAGGATGTTCATAAGCAAAGAAAAAAAGACAAAAAATACTGAAATAAATCCATTAAAATATTAAGAATAATTATTTCTGAGTGGTAAATTACATTCATTTTCCTTTTTTGCCTATCTATATTGCCTAGTTTTCCTACAATGCTGTATTACTTACTCATCCTTATATTAGTTGAGTAAAAAGAGTTAAAAATTGAAACTAGCCACACAGCAAAAGTGCTGAAATTATCATCAGGGAGGCCTCCCTGCTGGTCGTGTAAGCAGAAGCTGACCTTTCTGCCCACTTCTCTCCTCCTGTACTGCAGAGGGCATTATCAGATCACTCACCGTGTTGATCAGCCTGAGCTGAGTGCTAGAATTGCTTCGTTTACAAGTTTTAGTATAATCTTTTAAAATCCTTTTATACAACAAGAAGATGAAAGCCATAAAGAAGGAAGACAGCACAGTATCTAGAAAGTGCAACTGACCTGGTAGCTAGGACACCTGTGTTCTGGACCTGTCTCTCTGACTTGCTCACTGGGTGACCCTTCCCCTTTCTGGGCCTCAGTTTCCCTATTTGTAAAGGGAAAGAGTTGTACTAGATCAGTAGTTCACATGGACCACAGACTTCTCCACTCCATGGGCAGGCTGCATCTCAATCGACTGGGAAGCTTTTTGAAAGACAGATTCCACACTGGTCAGGAGTCAGAAAAAGTTCCTCAGGTGACTGGGATGTGCAGAAAGTTCCTCAGGTGACTGGGATGTGCAGTCAGGTTTCAGACCCAAGAACCAGACTTGTAGACTATAACTCCATATGGATGAGGACTGTTTTTACCTTGTCCTCGTCTGCTTCCCTGTGCTCCACAGCAGTAGGTTCTCAAGAGATATTGCTTGAATAACAAAAATATAAATTAATAAAATCCCTCCCAGCAATTATGCAGGTATGCTAGTAGCTCCTAGCAGTTGCTCTAAACTAACAGCAGATGGTGCTGTTGTACCAACAATGGCTCTCTCTAACTGACAGGTTTAATAAAATTTGTTGAGTTCCAAAGCTGCCTCACCTTCCTTTCCTCCATGCTCAGCAGGAACACGCATTCCCTGAGAGATGGCCTCTTTTTTCCCCTAACCATCTGGTGGCATTGCCCACACCCTGCTGAGGAAGCGAGCTGCGTTCCAGGCACTCAGGCAACTCTGCCTCTGCCCTAGTGCAGCCTCATCCATAAACATTCATGCAGCCGTTTCCTGGACCTAGAGCCACAGGGGCTCCTGGCACCTCAAAGGGCCTCAGGCAGCCAAAGGCCAGGGCCTTTGGTCTCTGGGTCTTCAGCCAAAAACACCCACCTCGACATGCATGTGGGTTCCCAACTCCAGAGGTGAGACTTGCCCAAATCTTACGAAAGTGAAGCACTGAAGAAAGGCTGACCTGGGAGCCTGAGGCCAGGGCTCTGACAGTAACCTCAGGAAAAAGGCTTGGTTTTGATTTCCTAAATCAAGGTCAGTGTGCCTCCCAGGGACACTGGACTCCCAGGCAATAGAGGTGTCACCCTCCAGGTCCTCCAGTGTAGGTAAGAGACAGGACTAGGGCCAGGTGATG
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GAGCTAGGGAATAAGACAATTCAGGGGACTTCATGCATGCTACTCCTTCTCTGCTGCTAAGTTTTTCCCTGATAAGCCCTATGTTATATTCACACTGTGTGATGCTGATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAATTAGATTAAGGGATTGGTGATACTCTAAAAAGTAGTAATTATCAGTGTTGCTGAAGGTACTCTCAAATACTGGTGAGACGAAAAAATGGACACCCTCCTGGATGGCGTCTAAAATACATGTGCTTCCTCTGATTAAAAAATTCTACTTCTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCGTGATGGCGCATAACTGTGGTCCCACCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCCCAGGAGGCAGAGTTGCAGAGCCAAGATTATGCCACTACAATCTAGCCTGAGAGAGCGAGATCCTGTCTCAAAAAAAAAAAAATCCATTTCTGGCCTTTTATTCTAAAGAAATAATTTTAAATGTGTGTACTAATTTAGCTATAAAGACCATTTATAATCACTCAAGTATTACTTATAGGATAGAAAAGATGGAAATAACCTGTGTCCAATAGTAGATTGGTTGTTTAAATTATGATATAGTCATTTAAAATAATATCATATAAATAAGTTTAGTGTTGTAATAAGACGTTCATGAGAGATTGTAAAGTGAGTTTTTTTAAAAAACAGGTTATAAAATAGTGTTATAGTGTAATTCCATTTTTGTTATTAAAAAATAGAAATATCTATGTATGAATTTTATACAAACACACATTTACATCTAAACTGAATTCCCAGGTTCTAGATAGACTAGCTGCCTTAAGGGTCCTGTAATTCTTTGCTCATGTGGCTTAAAGCCAAATGAGAACTTGGCAGCAGGCTTAGGCAATGAGTAAATTAGTAAATATCACCACCCCCCCCCCCGGTTTACACTTCCAAGTCAGCCACGAATGGGCTTAGCAAACAGGTAATATGAGAATAATGAAAATGGATCTGCCTGAAAGTCACCTGTGTGTCCTTCCAGCCTGGGAAGTTGGGCTAAGCCAACACTTTCCTAAAGCAAAGAGGCATAAAGGATATACTGACACAGTACACGACCCACAAGGCAAAGCTCAAAAAGGAAATAGCTTAAAAGGGGCCTCATGCTCCAAGAAATATAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAGGAAAGCAAAGACAGGAATACAAAGAAAGCAATAAGGAAAGGAGAACTCATCAAGGGTCCAACTGTCCCTGCAAGGAAGGAGACTGCTTTCAAGTAGGAAGTGAGAAGTTCTCCTAGCCAGGCACTGGCAAAGAAAAGATAGAACCAAGTGCCATTGTCTGGCCCTTGTCCACAGAGCCCTGTCCTTAGCTACCTACTAAAGCTGTTGGGCAGCGGGCACTGATGGCAACCAGAGGACTTTCCCAGGTCTGTGCTCATCTGTGTGCGGTAAAAGTCATCACCCTTCACTGCGGGGAAAGGGGATCCTCTGCATCTAGGTTGCAGGATCTGCAGCTAGCTTTTGGGGTCTCAATTTCTCCCCTCCTCTAATCAAGAGCCCACCTGGCAAATGCACACTCCCTGTTCAGGATATACGCTCAGCTCCAGACCCTGGGAAATCTCCCTGCTGTTTAGAGCCAGTGTCTTCAGGGAGAAAAGGCACACAACCCCCAAAGGGGAGATGGAGAGAGCAGTCATTACCTGCTTTGCGCCGGCACATGTTCATGTCTGCCACTTGCTTCCAGGTATTTGTTCCAGGATCGTAAACCTCAACGCTCTTCCTCACCAAAGGCCCATCATGCCCACCTGTGGCGTACAGCTGTCCGCTAAGCACTCCAACCCCTGAAAGGCAGAGCACAGCATCCCAGCCTCATGCTGACTACAGTAACCAGAAATCAGGAGGCCTGGCATCCAGTCCTGGACAGCCCTGACCAGTGAGGGGACTTGGGGAGTGCCATTTTGTCTCCCTGGACCTCAGTGTCCTCATCTGTAAAACAAATATAATGACACCCTACCTGCCTCCTCATAAGACTAGCAACCTCAAAACTTTGAAATATAATGCAAATGTGACCCAAATTCTGTTTTTAAAAAACATTAAAAAATATATATATATATATACACACACACAGACAGACAGACATACATACATACATACATACATACATACATACATACATACGGGAGAGGATGTTCATAAGCAAAGAAAAAAAGACAAAAAATACTGAAATAAATCCATTAAAATATTAAGAATAATTATTTCTGAGTGGTAAATTACATTCATTTTCCTTTTTTGCCTATCTATATTGCCTAGTTTTCCTACAATGCTGTATTACTTACTCATCCTTATATTAGTTGAGTAAAAAGAGTTAAAAATTGAAACTAGCCACACAGCAAAAGTGCTGAAATTATCATCAGGGAGGCCTCCCTGCTGGTCGTGTAAGCAGAAGCTGACCTTTCTGCCCACTTCTCTCCTCCTGTACTGCAGAGGGCATTATCAGATCACTCACCGTGTTGATCAGCCTGAGCTGAGTGCTAGAATTGCTTCGTTTACAAGTTTTAGTATAATCTTTTAAAATCCTTTTATACAACAAGAAGATGAAAGCCATAAAGAAGGAAGACAGCACAGTATCTAGAAAGTGCAACTGACCTGGTAGCTAGGACACCTGTGTTCTGGACCTGTCTCTCTGACTTGCTCACTGGGTGACCCTTCCCCTTTCTGGGCCTCAGTTTCCCTATTTGTAAAGGGAAAGAGTTGTACTAGATCAGTAGTTCACATGGACCACAGACTTCTCCACTCCATGGGCAGGCTGCATCTCAATCGACTGGGAAGCTTTTTGAAAGACAGATTCCACACTGGTCAGGAGTCAGAAAAAGTTCCTCAGGTGACTGGGATGTGCAGAAAGTTCCTCAGGTGACTGGGATGTGCAGTCAGGTTTCAGACCCAAGAACCAGACTTGTAGACTATAACTCCATATGGATGAGGACTGTTTTTACCTTGTCCTCGTCTGCTTCCCTGTGCTCCACAGCAGTAGGTTCTCAAGAGATATTGCTTGAATAACAAAAATATAAATTAATAAAATCCCTCCCAGCAATTATGCAGGTATGCTAGTAGCTCCTAGCAGTTGCTCTAAACTAACAGCAGATGGTGCTGTTGTACCAACAATGGCTCTCTCTAACTGACAGGTTTAATAAAATTTGTTGAGTTCCAAAGCTGCCTCACCTTCCTTTCCTCCATGCTCAGCAGGAACACGCATTCCCTGAGAGATGGCCTCTTTTTTCCCCTAACCATCTGGTGGCATTGCCCACACCCTGCTGAGGAAGCGAGCTGCGTTCCAGGCACTCAGGCAACTCTGCCTCTGCCCTAGTGCAGCCTCATCCATAAACATTCATGCAGCCGTTTCCTGGACCTAGAGCCACAGGGGCTCCTGGCACCTCAAAGGGCCTCAGGCAGCCAAAGGCCAGGGCCTTTGGTCTCTGGGTCTTCAGCCAAAAACACCCACCTCGACATGCATGTGGGTTCCCAACTCCAGAGGTGAGACTTGCCCAAATCTTACGAAAGTGAAGCACTGAAGAAAGGCTGACCTGGGAGCCTGAGGCCAGGGCTCTGACAGTAACCTCAGGAAAAAGGCTTGGTTTTGATTTCCTAAATCAAGGTCAGTGTGCCTCCCAGGGACACTGGACTCCCAGGCAATAGAGGTGTCACCCTCCAGGTCCTCCAGTGTAGGTAAGAGACAGGACTAGGGCCAGGTGATG
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Task1_train_9505
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The following genetic variant occurs in KLHL3 (kelch like family member 3) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Pseudohypoaldosteronism type 2D
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TAGGGAATAAGACAATTCAGGGGACTTCATGCATGCTACTCCTTCTCTGCTGCTAAGTTTTTCCCTGATAAGCCCTATGTTATATTCACACTGTGTGATGCTGATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAATTAGATTAAGGGATTGGTGATACTCTAAAAAGTAGTAATTATCAGTGTTGCTGAAGGTACTCTCAAATACTGGTGAGACGAAAAAATGGACACCCTCCTGGATGGCGTCTAAAATACATGTGCTTCCTCTGATTAAAAAATTCTACTTCTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCGTGATGGCGCATAACTGTGGTCCCACCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCCCAGGAGGCAGAGTTGCAGAGCCAAGATTATGCCACTACAATCTAGCCTGAGAGAGCGAGATCCTGTCTCAAAAAAAAAAAAATCCATTTCTGGCCTTTTATTCTAAAGAAATAATTTTAAATGTGTGTACTAATTTAGCTATAAAGACCATTTATAATCACTCAAGTATTACTTATAGGATAGAAAAGATGGAAATAACCTGTGTCCAATAGTAGATTGGTTGTTTAAATTATGATATAGTCATTTAAAATAATATCATATAAATAAGTTTAGTGTTGTAATAAGACGTTCATGAGAGATTGTAAAGTGAGTTTTTTTAAAAAACAGGTTATAAAATAGTGTTATAGTGTAATTCCATTTTTGTTATTAAAAAATAGAAATATCTATGTATGAATTTTATACAAACACACATTTACATCTAAACTGAATTCCCAGGTTCTAGATAGACTAGCTGCCTTAAGGGTCCTGTAATTCTTTGCTCATGTGGCTTAAAGCCAAATGAGAACTTGGCAGCAGGCTTAGGCAATGAGTAAATTAGTAAATATCACCACCCCCCCCCCCGGTTTACACTTCCAAGTCAGCCACGAATGGGCTTAGCAAACAGGTAATATGAGAATAATGAAAATGGATCTGCCTGAAAGTCACCTGTGTGTCCTTCCAGCCTGGGAAGTTGGGCTAAGCCAACACTTTCCTAAAGCAAAGAGGCATAAAGGATATACTGACACAGTACACGACCCACAAGGCAAAGCTCAAAAAGGAAATAGCTTAAAAGGGGCCTCATGCTCCAAGAAATATAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAGGAAAGCAAAGACAGGAATACAAAGAAAGCAATAAGGAAAGGAGAACTCATCAAGGGTCCAACTGTCCCTGCAAGGAAGGAGACTGCTTTCAAGTAGGAAGTGAGAAGTTCTCCTAGCCAGGCACTGGCAAAGAAAAGATAGAACCAAGTGCCATTGTCTGGCCCTTGTCCACAGAGCCCTGTCCTTAGCTACCTACTAAAGCTGTTGGGCAGCGGGCACTGATGGCAACCAGAGGACTTTCCCAGGTCTGTGCTCATCTGTGTGCGGTAAAAGTCATCACCCTTCACTGCGGGGAAAGGGGATCCTCTGCATCTAGGTTGCAGGATCTGCAGCTAGCTTTTGGGGTCTCAATTTCTCCCCTCCTCTAATCAAGAGCCCACCTGGCAAATGCACACTCCCTGTTCAGGATATACGCTCAGCTCCAGACCCTGGGAAATCTCCCTGCTGTTTAGAGCCAGTGTCTTCAGGGAGAAAAGGCACACAACCCCCAAAGGGGAGATGGAGAGAGCAGTCATTACCTGCGTTGCGCCGGCACATGTTCATGTCTGCCACTTGCTTCCAGGTATTTGTTCCAGGATCGTAAACCTCAACGCTCTTCCTCACCAAAGGCCCATCATGCCCACCTGTGGCGTACAGCTGTCCGCTAAGCACTCCAACCCCTGAAAGGCAGAGCACAGCATCCCAGCCTCATGCTGACTACAGTAACCAGAAATCAGGAGGCCTGGCATCCAGTCCTGGACAGCCCTGACCAGTGAGGGGACTTGGGGAGTGCCATTTTGTCTCCCTGGACCTCAGTGTCCTCATCTGTAAAACAAATATAATGACACCCTACCTGCCTCCTCATAAGACTAGCAACCTCAAAACTTTGAAATATAATGCAAATGTGACCCAAATTCTGTTTTTAAAAAACATTAAAAAATATATATATATATATACACACACACAGACAGACAGACATACATACATACATACATACATACATACATACATACATACGGGAGAGGATGTTCATAAGCAAAGAAAAAAAGACAAAAAATACTGAAATAAATCCATTAAAATATTAAGAATAATTATTTCTGAGTGGTAAATTACATTCATTTTCCTTTTTTGCCTATCTATATTGCCTAGTTTTCCTACAATGCTGTATTACTTACTCATCCTTATATTAGTTGAGTAAAAAGAGTTAAAAATTGAAACTAGCCACACAGCAAAAGTGCTGAAATTATCATCAGGGAGGCCTCCCTGCTGGTCGTGTAAGCAGAAGCTGACCTTTCTGCCCACTTCTCTCCTCCTGTACTGCAGAGGGCATTATCAGATCACTCACCGTGTTGATCAGCCTGAGCTGAGTGCTAGAATTGCTTCGTTTACAAGTTTTAGTATAATCTTTTAAAATCCTTTTATACAACAAGAAGATGAAAGCCATAAAGAAGGAAGACAGCACAGTATCTAGAAAGTGCAACTGACCTGGTAGCTAGGACACCTGTGTTCTGGACCTGTCTCTCTGACTTGCTCACTGGGTGACCCTTCCCCTTTCTGGGCCTCAGTTTCCCTATTTGTAAAGGGAAAGAGTTGTACTAGATCAGTAGTTCACATGGACCACAGACTTCTCCACTCCATGGGCAGGCTGCATCTCAATCGACTGGGAAGCTTTTTGAAAGACAGATTCCACACTGGTCAGGAGTCAGAAAAAGTTCCTCAGGTGACTGGGATGTGCAGAAAGTTCCTCAGGTGACTGGGATGTGCAGTCAGGTTTCAGACCCAAGAACCAGACTTGTAGACTATAACTCCATATGGATGAGGACTGTTTTTACCTTGTCCTCGTCTGCTTCCCTGTGCTCCACAGCAGTAGGTTCTCAAGAGATATTGCTTGAATAACAAAAATATAAATTAATAAAATCCCTCCCAGCAATTATGCAGGTATGCTAGTAGCTCCTAGCAGTTGCTCTAAACTAACAGCAGATGGTGCTGTTGTACCAACAATGGCTCTCTCTAACTGACAGGTTTAATAAAATTTGTTGAGTTCCAAAGCTGCCTCACCTTCCTTTCCTCCATGCTCAGCAGGAACACGCATTCCCTGAGAGATGGCCTCTTTTTTCCCCTAACCATCTGGTGGCATTGCCCACACCCTGCTGAGGAAGCGAGCTGCGTTCCAGGCACTCAGGCAACTCTGCCTCTGCCCTAGTGCAGCCTCATCCATAAACATTCATGCAGCCGTTTCCTGGACCTAGAGCCACAGGGGCTCCTGGCACCTCAAAGGGCCTCAGGCAGCCAAAGGCCAGGGCCTTTGGTCTCTGGGTCTTCAGCCAAAAACACCCACCTCGACATGCATGTGGGTTCCCAACTCCAGAGGTGAGACTTGCCCAAATCTTACGAAAGTGAAGCACTGAAGAAAGGCTGACCTGGGAGCCTGAGGCCAGGGCTCTGACAGTAACCTCAGGAAAAAGGCTTGGTTTTGATTTCCTAAATCAAGGTCAGTGTGCCTCCCAGGGACACTGGACTCCCAGGCAATAGAGGTGTCACCCTCCAGGTCCTCCAGTGTAGGTAAGAGACAGGACTAGGGCCAGGTGATGTCCA
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TAGGGAATAAGACAATTCAGGGGACTTCATGCATGCTACTCCTTCTCTGCTGCTAAGTTTTTCCCTGATAAGCCCTATGTTATATTCACACTGTGTGATGCTGATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAATTAGATTAAGGGATTGGTGATACTCTAAAAAGTAGTAATTATCAGTGTTGCTGAAGGTACTCTCAAATACTGGTGAGACGAAAAAATGGACACCCTCCTGGATGGCGTCTAAAATACATGTGCTTCCTCTGATTAAAAAATTCTACTTCTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCGTGATGGCGCATAACTGTGGTCCCACCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCCCAGGAGGCAGAGTTGCAGAGCCAAGATTATGCCACTACAATCTAGCCTGAGAGAGCGAGATCCTGTCTCAAAAAAAAAAAAATCCATTTCTGGCCTTTTATTCTAAAGAAATAATTTTAAATGTGTGTACTAATTTAGCTATAAAGACCATTTATAATCACTCAAGTATTACTTATAGGATAGAAAAGATGGAAATAACCTGTGTCCAATAGTAGATTGGTTGTTTAAATTATGATATAGTCATTTAAAATAATATCATATAAATAAGTTTAGTGTTGTAATAAGACGTTCATGAGAGATTGTAAAGTGAGTTTTTTTAAAAAACAGGTTATAAAATAGTGTTATAGTGTAATTCCATTTTTGTTATTAAAAAATAGAAATATCTATGTATGAATTTTATACAAACACACATTTACATCTAAACTGAATTCCCAGGTTCTAGATAGACTAGCTGCCTTAAGGGTCCTGTAATTCTTTGCTCATGTGGCTTAAAGCCAAATGAGAACTTGGCAGCAGGCTTAGGCAATGAGTAAATTAGTAAATATCACCACCCCCCCCCCCGGTTTACACTTCCAAGTCAGCCACGAATGGGCTTAGCAAACAGGTAATATGAGAATAATGAAAATGGATCTGCCTGAAAGTCACCTGTGTGTCCTTCCAGCCTGGGAAGTTGGGCTAAGCCAACACTTTCCTAAAGCAAAGAGGCATAAAGGATATACTGACACAGTACACGACCCACAAGGCAAAGCTCAAAAAGGAAATAGCTTAAAAGGGGCCTCATGCTCCAAGAAATATAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAGGAAAGCAAAGACAGGAATACAAAGAAAGCAATAAGGAAAGGAGAACTCATCAAGGGTCCAACTGTCCCTGCAAGGAAGGAGACTGCTTTCAAGTAGGAAGTGAGAAGTTCTCCTAGCCAGGCACTGGCAAAGAAAAGATAGAACCAAGTGCCATTGTCTGGCCCTTGTCCACAGAGCCCTGTCCTTAGCTACCTACTAAAGCTGTTGGGCAGCGGGCACTGATGGCAACCAGAGGACTTTCCCAGGTCTGTGCTCATCTGTGTGCGGTAAAAGTCATCACCCTTCACTGCGGGGAAAGGGGATCCTCTGCATCTAGGTTGCAGGATCTGCAGCTAGCTTTTGGGGTCTCAATTTCTCCCCTCCTCTAATCAAGAGCCCACCTGGCAAATGCACACTCCCTGTTCAGGATATACGCTCAGCTCCAGACCCTGGGAAATCTCCCTGCTGTTTAGAGCCAGTGTCTTCAGGGAGAAAAGGCACACAACCCCCAAAGGGGAGATGGAGAGAGCAGTCATTACCTGCGTTGTGCCGGCACATGTTCATGTCTGCCACTTGCTTCCAGGTATTTGTTCCAGGATCGTAAACCTCAACGCTCTTCCTCACCAAAGGCCCATCATGCCCACCTGTGGCGTACAGCTGTCCGCTAAGCACTCCAACCCCTGAAAGGCAGAGCACAGCATCCCAGCCTCATGCTGACTACAGTAACCAGAAATCAGGAGGCCTGGCATCCAGTCCTGGACAGCCCTGACCAGTGAGGGGACTTGGGGAGTGCCATTTTGTCTCCCTGGACCTCAGTGTCCTCATCTGTAAAACAAATATAATGACACCCTACCTGCCTCCTCATAAGACTAGCAACCTCAAAACTTTGAAATATAATGCAAATGTGACCCAAATTCTGTTTTTAAAAAACATTAAAAAATATATATATATATATACACACACACAGACAGACAGACATACATACATACATACATACATACATACATACATACATACGGGAGAGGATGTTCATAAGCAAAGAAAAAAAGACAAAAAATACTGAAATAAATCCATTAAAATATTAAGAATAATTATTTCTGAGTGGTAAATTACATTCATTTTCCTTTTTTGCCTATCTATATTGCCTAGTTTTCCTACAATGCTGTATTACTTACTCATCCTTATATTAGTTGAGTAAAAAGAGTTAAAAATTGAAACTAGCCACACAGCAAAAGTGCTGAAATTATCATCAGGGAGGCCTCCCTGCTGGTCGTGTAAGCAGAAGCTGACCTTTCTGCCCACTTCTCTCCTCCTGTACTGCAGAGGGCATTATCAGATCACTCACCGTGTTGATCAGCCTGAGCTGAGTGCTAGAATTGCTTCGTTTACAAGTTTTAGTATAATCTTTTAAAATCCTTTTATACAACAAGAAGATGAAAGCCATAAAGAAGGAAGACAGCACAGTATCTAGAAAGTGCAACTGACCTGGTAGCTAGGACACCTGTGTTCTGGACCTGTCTCTCTGACTTGCTCACTGGGTGACCCTTCCCCTTTCTGGGCCTCAGTTTCCCTATTTGTAAAGGGAAAGAGTTGTACTAGATCAGTAGTTCACATGGACCACAGACTTCTCCACTCCATGGGCAGGCTGCATCTCAATCGACTGGGAAGCTTTTTGAAAGACAGATTCCACACTGGTCAGGAGTCAGAAAAAGTTCCTCAGGTGACTGGGATGTGCAGAAAGTTCCTCAGGTGACTGGGATGTGCAGTCAGGTTTCAGACCCAAGAACCAGACTTGTAGACTATAACTCCATATGGATGAGGACTGTTTTTACCTTGTCCTCGTCTGCTTCCCTGTGCTCCACAGCAGTAGGTTCTCAAGAGATATTGCTTGAATAACAAAAATATAAATTAATAAAATCCCTCCCAGCAATTATGCAGGTATGCTAGTAGCTCCTAGCAGTTGCTCTAAACTAACAGCAGATGGTGCTGTTGTACCAACAATGGCTCTCTCTAACTGACAGGTTTAATAAAATTTGTTGAGTTCCAAAGCTGCCTCACCTTCCTTTCCTCCATGCTCAGCAGGAACACGCATTCCCTGAGAGATGGCCTCTTTTTTCCCCTAACCATCTGGTGGCATTGCCCACACCCTGCTGAGGAAGCGAGCTGCGTTCCAGGCACTCAGGCAACTCTGCCTCTGCCCTAGTGCAGCCTCATCCATAAACATTCATGCAGCCGTTTCCTGGACCTAGAGCCACAGGGGCTCCTGGCACCTCAAAGGGCCTCAGGCAGCCAAAGGCCAGGGCCTTTGGTCTCTGGGTCTTCAGCCAAAAACACCCACCTCGACATGCATGTGGGTTCCCAACTCCAGAGGTGAGACTTGCCCAAATCTTACGAAAGTGAAGCACTGAAGAAAGGCTGACCTGGGAGCCTGAGGCCAGGGCTCTGACAGTAACCTCAGGAAAAAGGCTTGGTTTTGATTTCCTAAATCAAGGTCAGTGTGCCTCCCAGGGACACTGGACTCCCAGGCAATAGAGGTGTCACCCTCCAGGTCCTCCAGTGTAGGTAAGAGACAGGACTAGGGCCAGGTGATGTCCA
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Task1_train_9506
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The gene KLHL3 (kelch like family member 3) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Pseudohypoaldosteronism type 2A
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TATTCACACTGTGTGATGCTGATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAATTAGATTAAGGGATTGGTGATACTCTAAAAAGTAGTAATTATCAGTGTTGCTGAAGGTACTCTCAAATACTGGTGAGACGAAAAAATGGACACCCTCCTGGATGGCGTCTAAAATACATGTGCTTCCTCTGATTAAAAAATTCTACTTCTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCGTGATGGCGCATAACTGTGGTCCCACCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCCCAGGAGGCAGAGTTGCAGAGCCAAGATTATGCCACTACAATCTAGCCTGAGAGAGCGAGATCCTGTCTCAAAAAAAAAAAAATCCATTTCTGGCCTTTTATTCTAAAGAAATAATTTTAAATGTGTGTACTAATTTAGCTATAAAGACCATTTATAATCACTCAAGTATTACTTATAGGATAGAAAAGATGGAAATAACCTGTGTCCAATAGTAGATTGGTTGTTTAAATTATGATATAGTCATTTAAAATAATATCATATAAATAAGTTTAGTGTTGTAATAAGACGTTCATGAGAGATTGTAAAGTGAGTTTTTTTAAAAAACAGGTTATAAAATAGTGTTATAGTGTAATTCCATTTTTGTTATTAAAAAATAGAAATATCTATGTATGAATTTTATACAAACACACATTTACATCTAAACTGAATTCCCAGGTTCTAGATAGACTAGCTGCCTTAAGGGTCCTGTAATTCTTTGCTCATGTGGCTTAAAGCCAAATGAGAACTTGGCAGCAGGCTTAGGCAATGAGTAAATTAGTAAATATCACCACCCCCCCCCCCGGTTTACACTTCCAAGTCAGCCACGAATGGGCTTAGCAAACAGGTAATATGAGAATAATGAAAATGGATCTGCCTGAAAGTCACCTGTGTGTCCTTCCAGCCTGGGAAGTTGGGCTAAGCCAACACTTTCCTAAAGCAAAGAGGCATAAAGGATATACTGACACAGTACACGACCCACAAGGCAAAGCTCAAAAAGGAAATAGCTTAAAAGGGGCCTCATGCTCCAAGAAATATAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAGGAAAGCAAAGACAGGAATACAAAGAAAGCAATAAGGAAAGGAGAACTCATCAAGGGTCCAACTGTCCCTGCAAGGAAGGAGACTGCTTTCAAGTAGGAAGTGAGAAGTTCTCCTAGCCAGGCACTGGCAAAGAAAAGATAGAACCAAGTGCCATTGTCTGGCCCTTGTCCACAGAGCCCTGTCCTTAGCTACCTACTAAAGCTGTTGGGCAGCGGGCACTGATGGCAACCAGAGGACTTTCCCAGGTCTGTGCTCATCTGTGTGCGGTAAAAGTCATCACCCTTCACTGCGGGGAAAGGGGATCCTCTGCATCTAGGTTGCAGGATCTGCAGCTAGCTTTTGGGGTCTCAATTTCTCCCCTCCTCTAATCAAGAGCCCACCTGGCAAATGCACACTCCCTGTTCAGGATATACGCTCAGCTCCAGACCCTGGGAAATCTCCCTGCTGTTTAGAGCCAGTGTCTTCAGGGAGAAAAGGCACACAACCCCCAAAGGGGAGATGGAGAGAGCAGTCATTACCTGCGTTGCGCCGGCACATGTTCATGTCTGCCACTTGCTTCCAGGTATTTGTTCCAGGATCGTAAACCTCAACGCTCTTCCTCACCAAAGGCCCATCATGCCCACCTGTGGCGTACAGCTGTCCGCTAAGCACTCCAACCCCTGAAAGGCAGAGCACAGCATCCCAGCCTCATGCTGACTACAGTAACCAGAAATCAGGAGGCCTGGCATCCAGTCCTGGACAGCCCTGACCAGTGAGGGGACTTGGGGAGTGCCATTTTGTCTCCCTGGACCTCAGTGTCCTCATCTGTAAAACAAATATAATGACACCCTACCTGCCTCCTCATAAGACTAGCAACCTCAAAACTTTGAAATATAATGCAAATGTGACCCAAATTCTGTTTTTAAAAAACATTAAAAAATATATATATATATATACACACACACAGACAGACAGACATACATACATACATACATACATACATACATACATACATACGGGAGAGGATGTTCATAAGCAAAGAAAAAAAGACAAAAAATACTGAAATAAATCCATTAAAATATTAAGAATAATTATTTCTGAGTGGTAAATTACATTCATTTTCCTTTTTTGCCTATCTATATTGCCTAGTTTTCCTACAATGCTGTATTACTTACTCATCCTTATATTAGTTGAGTAAAAAGAGTTAAAAATTGAAACTAGCCACACAGCAAAAGTGCTGAAATTATCATCAGGGAGGCCTCCCTGCTGGTCGTGTAAGCAGAAGCTGACCTTTCTGCCCACTTCTCTCCTCCTGTACTGCAGAGGGCATTATCAGATCACTCACCGTGTTGATCAGCCTGAGCTGAGTGCTAGAATTGCTTCGTTTACAAGTTTTAGTATAATCTTTTAAAATCCTTTTATACAACAAGAAGATGAAAGCCATAAAGAAGGAAGACAGCACAGTATCTAGAAAGTGCAACTGACCTGGTAGCTAGGACACCTGTGTTCTGGACCTGTCTCTCTGACTTGCTCACTGGGTGACCCTTCCCCTTTCTGGGCCTCAGTTTCCCTATTTGTAAAGGGAAAGAGTTGTACTAGATCAGTAGTTCACATGGACCACAGACTTCTCCACTCCATGGGCAGGCTGCATCTCAATCGACTGGGAAGCTTTTTGAAAGACAGATTCCACACTGGTCAGGAGTCAGAAAAAGTTCCTCAGGTGACTGGGATGTGCAGAAAGTTCCTCAGGTGACTGGGATGTGCAGTCAGGTTTCAGACCCAAGAACCAGACTTGTAGACTATAACTCCATATGGATGAGGACTGTTTTTACCTTGTCCTCGTCTGCTTCCCTGTGCTCCACAGCAGTAGGTTCTCAAGAGATATTGCTTGAATAACAAAAATATAAATTAATAAAATCCCTCCCAGCAATTATGCAGGTATGCTAGTAGCTCCTAGCAGTTGCTCTAAACTAACAGCAGATGGTGCTGTTGTACCAACAATGGCTCTCTCTAACTGACAGGTTTAATAAAATTTGTTGAGTTCCAAAGCTGCCTCACCTTCCTTTCCTCCATGCTCAGCAGGAACACGCATTCCCTGAGAGATGGCCTCTTTTTTCCCCTAACCATCTGGTGGCATTGCCCACACCCTGCTGAGGAAGCGAGCTGCGTTCCAGGCACTCAGGCAACTCTGCCTCTGCCCTAGTGCAGCCTCATCCATAAACATTCATGCAGCCGTTTCCTGGACCTAGAGCCACAGGGGCTCCTGGCACCTCAAAGGGCCTCAGGCAGCCAAAGGCCAGGGCCTTTGGTCTCTGGGTCTTCAGCCAAAAACACCCACCTCGACATGCATGTGGGTTCCCAACTCCAGAGGTGAGACTTGCCCAAATCTTACGAAAGTGAAGCACTGAAGAAAGGCTGACCTGGGAGCCTGAGGCCAGGGCTCTGACAGTAACCTCAGGAAAAAGGCTTGGTTTTGATTTCCTAAATCAAGGTCAGTGTGCCTCCCAGGGACACTGGACTCCCAGGCAATAGAGGTGTCACCCTCCAGGTCCTCCAGTGTAGGTAAGAGACAGGACTAGGGCCAGGTGATGTCCACCCAGCAATAACCATTTCAGCAGCGTGGCAGAGACAAAGCAGCTGTAGTCTCCAAAGGCGGCTCCCTCCACAGAGACAAGCC
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TATTCACACTGTGTGATGCTGATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAATTAGATTAAGGGATTGGTGATACTCTAAAAAGTAGTAATTATCAGTGTTGCTGAAGGTACTCTCAAATACTGGTGAGACGAAAAAATGGACACCCTCCTGGATGGCGTCTAAAATACATGTGCTTCCTCTGATTAAAAAATTCTACTTCTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCGTGATGGCGCATAACTGTGGTCCCACCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCCCAGGAGGCAGAGTTGCAGAGCCAAGATTATGCCACTACAATCTAGCCTGAGAGAGCGAGATCCTGTCTCAAAAAAAAAAAAATCCATTTCTGGCCTTTTATTCTAAAGAAATAATTTTAAATGTGTGTACTAATTTAGCTATAAAGACCATTTATAATCACTCAAGTATTACTTATAGGATAGAAAAGATGGAAATAACCTGTGTCCAATAGTAGATTGGTTGTTTAAATTATGATATAGTCATTTAAAATAATATCATATAAATAAGTTTAGTGTTGTAATAAGACGTTCATGAGAGATTGTAAAGTGAGTTTTTTTAAAAAACAGGTTATAAAATAGTGTTATAGTGTAATTCCATTTTTGTTATTAAAAAATAGAAATATCTATGTATGAATTTTATACAAACACACATTTACATCTAAACTGAATTCCCAGGTTCTAGATAGACTAGCTGCCTTAAGGGTCCTGTAATTCTTTGCTCATGTGGCTTAAAGCCAAATGAGAACTTGGCAGCAGGCTTAGGCAATGAGTAAATTAGTAAATATCACCACCCCCCCCCCCGGTTTACACTTCCAAGTCAGCCACGAATGGGCTTAGCAAACAGGTAATATGAGAATAATGAAAATGGATCTGCCTGAAAGTCACCTGTGTGTCCTTCCAGCCTGGGAAGTTGGGCTAAGCCAACACTTTCCTAAAGCAAAGAGGCATAAAGGATATACTGACACAGTACACGACCCACAAGGCAAAGCTCAAAAAGGAAATAGCTTAAAAGGGGCCTCATGCTCCAAGAAATATAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAGGAAAGCAAAGACAGGAATACAAAGAAAGCAATAAGGAAAGGAGAACTCATCAAGGGTCCAACTGTCCCTGCAAGGAAGGAGACTGCTTTCAAGTAGGAAGTGAGAAGTTCTCCTAGCCAGGCACTGGCAAAGAAAAGATAGAACCAAGTGCCATTGTCTGGCCCTTGTCCACAGAGCCCTGTCCTTAGCTACCTACTAAAGCTGTTGGGCAGCGGGCACTGATGGCAACCAGAGGACTTTCCCAGGTCTGTGCTCATCTGTGTGCGGTAAAAGTCATCACCCTTCACTGCGGGGAAAGGGGATCCTCTGCATCTAGGTTGCAGGATCTGCAGCTAGCTTTTGGGGTCTCAATTTCTCCCCTCCTCTAATCAAGAGCCCACCTGGCAAATGCACACTCCCTGTTCAGGATATACGCTCAGCTCCAGACCCTGGGAAATCTCCCTGCTGTTTAGAGCCAGTGTCTTCAGGGAGAAAAGGCACACAACCCCCAAAGGGGAGATGGAGAGAGCAGTCATTACCTGCGTTGCGCCGGCACATGTTCATGTCTGCCACTTGCTTCCAGGTATTTGTTCCAGGATCGTAAACCTCAACGCTCTTCCTCACCAAAGTCCCATCATGCCCACCTGTGGCGTACAGCTGTCCGCTAAGCACTCCAACCCCTGAAAGGCAGAGCACAGCATCCCAGCCTCATGCTGACTACAGTAACCAGAAATCAGGAGGCCTGGCATCCAGTCCTGGACAGCCCTGACCAGTGAGGGGACTTGGGGAGTGCCATTTTGTCTCCCTGGACCTCAGTGTCCTCATCTGTAAAACAAATATAATGACACCCTACCTGCCTCCTCATAAGACTAGCAACCTCAAAACTTTGAAATATAATGCAAATGTGACCCAAATTCTGTTTTTAAAAAACATTAAAAAATATATATATATATATACACACACACAGACAGACAGACATACATACATACATACATACATACATACATACATACATACGGGAGAGGATGTTCATAAGCAAAGAAAAAAAGACAAAAAATACTGAAATAAATCCATTAAAATATTAAGAATAATTATTTCTGAGTGGTAAATTACATTCATTTTCCTTTTTTGCCTATCTATATTGCCTAGTTTTCCTACAATGCTGTATTACTTACTCATCCTTATATTAGTTGAGTAAAAAGAGTTAAAAATTGAAACTAGCCACACAGCAAAAGTGCTGAAATTATCATCAGGGAGGCCTCCCTGCTGGTCGTGTAAGCAGAAGCTGACCTTTCTGCCCACTTCTCTCCTCCTGTACTGCAGAGGGCATTATCAGATCACTCACCGTGTTGATCAGCCTGAGCTGAGTGCTAGAATTGCTTCGTTTACAAGTTTTAGTATAATCTTTTAAAATCCTTTTATACAACAAGAAGATGAAAGCCATAAAGAAGGAAGACAGCACAGTATCTAGAAAGTGCAACTGACCTGGTAGCTAGGACACCTGTGTTCTGGACCTGTCTCTCTGACTTGCTCACTGGGTGACCCTTCCCCTTTCTGGGCCTCAGTTTCCCTATTTGTAAAGGGAAAGAGTTGTACTAGATCAGTAGTTCACATGGACCACAGACTTCTCCACTCCATGGGCAGGCTGCATCTCAATCGACTGGGAAGCTTTTTGAAAGACAGATTCCACACTGGTCAGGAGTCAGAAAAAGTTCCTCAGGTGACTGGGATGTGCAGAAAGTTCCTCAGGTGACTGGGATGTGCAGTCAGGTTTCAGACCCAAGAACCAGACTTGTAGACTATAACTCCATATGGATGAGGACTGTTTTTACCTTGTCCTCGTCTGCTTCCCTGTGCTCCACAGCAGTAGGTTCTCAAGAGATATTGCTTGAATAACAAAAATATAAATTAATAAAATCCCTCCCAGCAATTATGCAGGTATGCTAGTAGCTCCTAGCAGTTGCTCTAAACTAACAGCAGATGGTGCTGTTGTACCAACAATGGCTCTCTCTAACTGACAGGTTTAATAAAATTTGTTGAGTTCCAAAGCTGCCTCACCTTCCTTTCCTCCATGCTCAGCAGGAACACGCATTCCCTGAGAGATGGCCTCTTTTTTCCCCTAACCATCTGGTGGCATTGCCCACACCCTGCTGAGGAAGCGAGCTGCGTTCCAGGCACTCAGGCAACTCTGCCTCTGCCCTAGTGCAGCCTCATCCATAAACATTCATGCAGCCGTTTCCTGGACCTAGAGCCACAGGGGCTCCTGGCACCTCAAAGGGCCTCAGGCAGCCAAAGGCCAGGGCCTTTGGTCTCTGGGTCTTCAGCCAAAAACACCCACCTCGACATGCATGTGGGTTCCCAACTCCAGAGGTGAGACTTGCCCAAATCTTACGAAAGTGAAGCACTGAAGAAAGGCTGACCTGGGAGCCTGAGGCCAGGGCTCTGACAGTAACCTCAGGAAAAAGGCTTGGTTTTGATTTCCTAAATCAAGGTCAGTGTGCCTCCCAGGGACACTGGACTCCCAGGCAATAGAGGTGTCACCCTCCAGGTCCTCCAGTGTAGGTAAGAGACAGGACTAGGGCCAGGTGATGTCCACCCAGCAATAACCATTTCAGCAGCGTGGCAGAGACAAAGCAGCTGTAGTCTCCAAAGGCGGCTCCCTCCACAGAGACAAGCC
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Task1_train_9507
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With a mutation on Chromosome 5 in gene KLHL3 (kelch like family member 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Pseudohypoaldosteronism type 2A
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ATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAATTAGATTAAGGGATTGGTGATACTCTAAAAAGTAGTAATTATCAGTGTTGCTGAAGGTACTCTCAAATACTGGTGAGACGAAAAAATGGACACCCTCCTGGATGGCGTCTAAAATACATGTGCTTCCTCTGATTAAAAAATTCTACTTCTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCGTGATGGCGCATAACTGTGGTCCCACCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCCCAGGAGGCAGAGTTGCAGAGCCAAGATTATGCCACTACAATCTAGCCTGAGAGAGCGAGATCCTGTCTCAAAAAAAAAAAAATCCATTTCTGGCCTTTTATTCTAAAGAAATAATTTTAAATGTGTGTACTAATTTAGCTATAAAGACCATTTATAATCACTCAAGTATTACTTATAGGATAGAAAAGATGGAAATAACCTGTGTCCAATAGTAGATTGGTTGTTTAAATTATGATATAGTCATTTAAAATAATATCATATAAATAAGTTTAGTGTTGTAATAAGACGTTCATGAGAGATTGTAAAGTGAGTTTTTTTAAAAAACAGGTTATAAAATAGTGTTATAGTGTAATTCCATTTTTGTTATTAAAAAATAGAAATATCTATGTATGAATTTTATACAAACACACATTTACATCTAAACTGAATTCCCAGGTTCTAGATAGACTAGCTGCCTTAAGGGTCCTGTAATTCTTTGCTCATGTGGCTTAAAGCCAAATGAGAACTTGGCAGCAGGCTTAGGCAATGAGTAAATTAGTAAATATCACCACCCCCCCCCCCGGTTTACACTTCCAAGTCAGCCACGAATGGGCTTAGCAAACAGGTAATATGAGAATAATGAAAATGGATCTGCCTGAAAGTCACCTGTGTGTCCTTCCAGCCTGGGAAGTTGGGCTAAGCCAACACTTTCCTAAAGCAAAGAGGCATAAAGGATATACTGACACAGTACACGACCCACAAGGCAAAGCTCAAAAAGGAAATAGCTTAAAAGGGGCCTCATGCTCCAAGAAATATAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAGGAAAGCAAAGACAGGAATACAAAGAAAGCAATAAGGAAAGGAGAACTCATCAAGGGTCCAACTGTCCCTGCAAGGAAGGAGACTGCTTTCAAGTAGGAAGTGAGAAGTTCTCCTAGCCAGGCACTGGCAAAGAAAAGATAGAACCAAGTGCCATTGTCTGGCCCTTGTCCACAGAGCCCTGTCCTTAGCTACCTACTAAAGCTGTTGGGCAGCGGGCACTGATGGCAACCAGAGGACTTTCCCAGGTCTGTGCTCATCTGTGTGCGGTAAAAGTCATCACCCTTCACTGCGGGGAAAGGGGATCCTCTGCATCTAGGTTGCAGGATCTGCAGCTAGCTTTTGGGGTCTCAATTTCTCCCCTCCTCTAATCAAGAGCCCACCTGGCAAATGCACACTCCCTGTTCAGGATATACGCTCAGCTCCAGACCCTGGGAAATCTCCCTGCTGTTTAGAGCCAGTGTCTTCAGGGAGAAAAGGCACACAACCCCCAAAGGGGAGATGGAGAGAGCAGTCATTACCTGCGTTGCGCCGGCACATGTTCATGTCTGCCACTTGCTTCCAGGTATTTGTTCCAGGATCGTAAACCTCAACGCTCTTCCTCACCAAAGGCCCATCATGCCCACCTGTGGCGTACAGCTGTCCGCTAAGCACTCCAACCCCTGAAAGGCAGAGCACAGCATCCCAGCCTCATGCTGACTACAGTAACCAGAAATCAGGAGGCCTGGCATCCAGTCCTGGACAGCCCTGACCAGTGAGGGGACTTGGGGAGTGCCATTTTGTCTCCCTGGACCTCAGTGTCCTCATCTGTAAAACAAATATAATGACACCCTACCTGCCTCCTCATAAGACTAGCAACCTCAAAACTTTGAAATATAATGCAAATGTGACCCAAATTCTGTTTTTAAAAAACATTAAAAAATATATATATATATATACACACACACAGACAGACAGACATACATACATACATACATACATACATACATACATACATACGGGAGAGGATGTTCATAAGCAAAGAAAAAAAGACAAAAAATACTGAAATAAATCCATTAAAATATTAAGAATAATTATTTCTGAGTGGTAAATTACATTCATTTTCCTTTTTTGCCTATCTATATTGCCTAGTTTTCCTACAATGCTGTATTACTTACTCATCCTTATATTAGTTGAGTAAAAAGAGTTAAAAATTGAAACTAGCCACACAGCAAAAGTGCTGAAATTATCATCAGGGAGGCCTCCCTGCTGGTCGTGTAAGCAGAAGCTGACCTTTCTGCCCACTTCTCTCCTCCTGTACTGCAGAGGGCATTATCAGATCACTCACCGTGTTGATCAGCCTGAGCTGAGTGCTAGAATTGCTTCGTTTACAAGTTTTAGTATAATCTTTTAAAATCCTTTTATACAACAAGAAGATGAAAGCCATAAAGAAGGAAGACAGCACAGTATCTAGAAAGTGCAACTGACCTGGTAGCTAGGACACCTGTGTTCTGGACCTGTCTCTCTGACTTGCTCACTGGGTGACCCTTCCCCTTTCTGGGCCTCAGTTTCCCTATTTGTAAAGGGAAAGAGTTGTACTAGATCAGTAGTTCACATGGACCACAGACTTCTCCACTCCATGGGCAGGCTGCATCTCAATCGACTGGGAAGCTTTTTGAAAGACAGATTCCACACTGGTCAGGAGTCAGAAAAAGTTCCTCAGGTGACTGGGATGTGCAGAAAGTTCCTCAGGTGACTGGGATGTGCAGTCAGGTTTCAGACCCAAGAACCAGACTTGTAGACTATAACTCCATATGGATGAGGACTGTTTTTACCTTGTCCTCGTCTGCTTCCCTGTGCTCCACAGCAGTAGGTTCTCAAGAGATATTGCTTGAATAACAAAAATATAAATTAATAAAATCCCTCCCAGCAATTATGCAGGTATGCTAGTAGCTCCTAGCAGTTGCTCTAAACTAACAGCAGATGGTGCTGTTGTACCAACAATGGCTCTCTCTAACTGACAGGTTTAATAAAATTTGTTGAGTTCCAAAGCTGCCTCACCTTCCTTTCCTCCATGCTCAGCAGGAACACGCATTCCCTGAGAGATGGCCTCTTTTTTCCCCTAACCATCTGGTGGCATTGCCCACACCCTGCTGAGGAAGCGAGCTGCGTTCCAGGCACTCAGGCAACTCTGCCTCTGCCCTAGTGCAGCCTCATCCATAAACATTCATGCAGCCGTTTCCTGGACCTAGAGCCACAGGGGCTCCTGGCACCTCAAAGGGCCTCAGGCAGCCAAAGGCCAGGGCCTTTGGTCTCTGGGTCTTCAGCCAAAAACACCCACCTCGACATGCATGTGGGTTCCCAACTCCAGAGGTGAGACTTGCCCAAATCTTACGAAAGTGAAGCACTGAAGAAAGGCTGACCTGGGAGCCTGAGGCCAGGGCTCTGACAGTAACCTCAGGAAAAAGGCTTGGTTTTGATTTCCTAAATCAAGGTCAGTGTGCCTCCCAGGGACACTGGACTCCCAGGCAATAGAGGTGTCACCCTCCAGGTCCTCCAGTGTAGGTAAGAGACAGGACTAGGGCCAGGTGATGTCCACCCAGCAATAACCATTTCAGCAGCGTGGCAGAGACAAAGCAGCTGTAGTCTCCAAAGGCGGCTCCCTCCACAGAGACAAGCCTGAGCTTCCTAAGGCAGGTCT
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ATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAATTAGATTAAGGGATTGGTGATACTCTAAAAAGTAGTAATTATCAGTGTTGCTGAAGGTACTCTCAAATACTGGTGAGACGAAAAAATGGACACCCTCCTGGATGGCGTCTAAAATACATGTGCTTCCTCTGATTAAAAAATTCTACTTCTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCGTGATGGCGCATAACTGTGGTCCCACCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCCCAGGAGGCAGAGTTGCAGAGCCAAGATTATGCCACTACAATCTAGCCTGAGAGAGCGAGATCCTGTCTCAAAAAAAAAAAAATCCATTTCTGGCCTTTTATTCTAAAGAAATAATTTTAAATGTGTGTACTAATTTAGCTATAAAGACCATTTATAATCACTCAAGTATTACTTATAGGATAGAAAAGATGGAAATAACCTGTGTCCAATAGTAGATTGGTTGTTTAAATTATGATATAGTCATTTAAAATAATATCATATAAATAAGTTTAGTGTTGTAATAAGACGTTCATGAGAGATTGTAAAGTGAGTTTTTTTAAAAAACAGGTTATAAAATAGTGTTATAGTGTAATTCCATTTTTGTTATTAAAAAATAGAAATATCTATGTATGAATTTTATACAAACACACATTTACATCTAAACTGAATTCCCAGGTTCTAGATAGACTAGCTGCCTTAAGGGTCCTGTAATTCTTTGCTCATGTGGCTTAAAGCCAAATGAGAACTTGGCAGCAGGCTTAGGCAATGAGTAAATTAGTAAATATCACCACCCCCCCCCCCGGTTTACACTTCCAAGTCAGCCACGAATGGGCTTAGCAAACAGGTAATATGAGAATAATGAAAATGGATCTGCCTGAAAGTCACCTGTGTGTCCTTCCAGCCTGGGAAGTTGGGCTAAGCCAACACTTTCCTAAAGCAAAGAGGCATAAAGGATATACTGACACAGTACACGACCCACAAGGCAAAGCTCAAAAAGGAAATAGCTTAAAAGGGGCCTCATGCTCCAAGAAATATAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAGGAAAGCAAAGACAGGAATACAAAGAAAGCAATAAGGAAAGGAGAACTCATCAAGGGTCCAACTGTCCCTGCAAGGAAGGAGACTGCTTTCAAGTAGGAAGTGAGAAGTTCTCCTAGCCAGGCACTGGCAAAGAAAAGATAGAACCAAGTGCCATTGTCTGGCCCTTGTCCACAGAGCCCTGTCCTTAGCTACCTACTAAAGCTGTTGGGCAGCGGGCACTGATGGCAACCAGAGGACTTTCCCAGGTCTGTGCTCATCTGTGTGCGGTAAAAGTCATCACCCTTCACTGCGGGGAAAGGGGATCCTCTGCATCTAGGTTGCAGGATCTGCAGCTAGCTTTTGGGGTCTCAATTTCTCCCCTCCTCTAATCAAGAGCCCACCTGGCAAATGCACACTCCCTGTTCAGGATATACGCTCAGCTCCAGACCCTGGGAAATCTCCCTGCTGTTTAGAGCCAGTGTCTTCAGGGAGAAAAGGCACACAACCCCCAAAGGGGAGATGGAGAGAGCAGTCATTACCTGCGTTGCGCCGGCACATGTTCATGTCTGCCACTTGCTTCCAGGTATTTGTTCCAGGATCGTAAACCTCAACGCTCTTCCTCACCAAAGGCCCATCATGCCCACCTGTGGTGTACAGCTGTCCGCTAAGCACTCCAACCCCTGAAAGGCAGAGCACAGCATCCCAGCCTCATGCTGACTACAGTAACCAGAAATCAGGAGGCCTGGCATCCAGTCCTGGACAGCCCTGACCAGTGAGGGGACTTGGGGAGTGCCATTTTGTCTCCCTGGACCTCAGTGTCCTCATCTGTAAAACAAATATAATGACACCCTACCTGCCTCCTCATAAGACTAGCAACCTCAAAACTTTGAAATATAATGCAAATGTGACCCAAATTCTGTTTTTAAAAAACATTAAAAAATATATATATATATATACACACACACAGACAGACAGACATACATACATACATACATACATACATACATACATACATACGGGAGAGGATGTTCATAAGCAAAGAAAAAAAGACAAAAAATACTGAAATAAATCCATTAAAATATTAAGAATAATTATTTCTGAGTGGTAAATTACATTCATTTTCCTTTTTTGCCTATCTATATTGCCTAGTTTTCCTACAATGCTGTATTACTTACTCATCCTTATATTAGTTGAGTAAAAAGAGTTAAAAATTGAAACTAGCCACACAGCAAAAGTGCTGAAATTATCATCAGGGAGGCCTCCCTGCTGGTCGTGTAAGCAGAAGCTGACCTTTCTGCCCACTTCTCTCCTCCTGTACTGCAGAGGGCATTATCAGATCACTCACCGTGTTGATCAGCCTGAGCTGAGTGCTAGAATTGCTTCGTTTACAAGTTTTAGTATAATCTTTTAAAATCCTTTTATACAACAAGAAGATGAAAGCCATAAAGAAGGAAGACAGCACAGTATCTAGAAAGTGCAACTGACCTGGTAGCTAGGACACCTGTGTTCTGGACCTGTCTCTCTGACTTGCTCACTGGGTGACCCTTCCCCTTTCTGGGCCTCAGTTTCCCTATTTGTAAAGGGAAAGAGTTGTACTAGATCAGTAGTTCACATGGACCACAGACTTCTCCACTCCATGGGCAGGCTGCATCTCAATCGACTGGGAAGCTTTTTGAAAGACAGATTCCACACTGGTCAGGAGTCAGAAAAAGTTCCTCAGGTGACTGGGATGTGCAGAAAGTTCCTCAGGTGACTGGGATGTGCAGTCAGGTTTCAGACCCAAGAACCAGACTTGTAGACTATAACTCCATATGGATGAGGACTGTTTTTACCTTGTCCTCGTCTGCTTCCCTGTGCTCCACAGCAGTAGGTTCTCAAGAGATATTGCTTGAATAACAAAAATATAAATTAATAAAATCCCTCCCAGCAATTATGCAGGTATGCTAGTAGCTCCTAGCAGTTGCTCTAAACTAACAGCAGATGGTGCTGTTGTACCAACAATGGCTCTCTCTAACTGACAGGTTTAATAAAATTTGTTGAGTTCCAAAGCTGCCTCACCTTCCTTTCCTCCATGCTCAGCAGGAACACGCATTCCCTGAGAGATGGCCTCTTTTTTCCCCTAACCATCTGGTGGCATTGCCCACACCCTGCTGAGGAAGCGAGCTGCGTTCCAGGCACTCAGGCAACTCTGCCTCTGCCCTAGTGCAGCCTCATCCATAAACATTCATGCAGCCGTTTCCTGGACCTAGAGCCACAGGGGCTCCTGGCACCTCAAAGGGCCTCAGGCAGCCAAAGGCCAGGGCCTTTGGTCTCTGGGTCTTCAGCCAAAAACACCCACCTCGACATGCATGTGGGTTCCCAACTCCAGAGGTGAGACTTGCCCAAATCTTACGAAAGTGAAGCACTGAAGAAAGGCTGACCTGGGAGCCTGAGGCCAGGGCTCTGACAGTAACCTCAGGAAAAAGGCTTGGTTTTGATTTCCTAAATCAAGGTCAGTGTGCCTCCCAGGGACACTGGACTCCCAGGCAATAGAGGTGTCACCCTCCAGGTCCTCCAGTGTAGGTAAGAGACAGGACTAGGGCCAGGTGATGTCCACCCAGCAATAACCATTTCAGCAGCGTGGCAGAGACAAAGCAGCTGTAGTCTCCAAAGGCGGCTCCCTCCACAGAGACAAGCCTGAGCTTCCTAAGGCAGGTCT
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Task1_train_9508
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Consider a variant on Chromosome 5 in gene KLHL3 (kelch like family member 3). Determine its clinical classification and disease relevance.
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Pathogenic; Pseudohypoaldosteronism type 2D
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GGTCCTCTCAATTGACCCATCTAAAAGAAAGAAACACATCGTCCTCAGTTCTGCACTCACCAAAGTCAAAATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAGACAGTGTGGAGAGCTGTCTCTTCAAGGCCACAGTGAAGAAGACAGAGTCCACTTAAGTCCCTCCCTCAACATTCTCACCACAGCTGTAAATTGAACTCTGCTGCCCCAGGGTGCCCACAGCTGAAAGAGCTTCAGATTCAGGAAGGGCAGAAGAAACAAATTCCCAGCCTGTCTTCCACGTCAACAGGGCATGCTACAAGACAGCACTTCTTCCACATACAGAACATGCTCACAAAAGCCTTTGTCAAGGGGAGTATTTTAAATTACCACCATTATGGCACCTCCTCTAACCCCCATCAACCATTCCATCTGCATCAGCTGAAAAAATATGCACTCAAGGTTCCTCCTTGAGTCTATTAACAGGGATTTGCTATTTTTAACCCCTACTCTATTGTTTGATATTCCTGGCTAAGGAACAAGAGAAGAAATGAGAAGGTGGCTAGACAAAGCACTTACACTTGGCAGACAAATCAATTTCTCTTCCACCAAGAGAATGAGATTGCAAGATACAATTTACCTTGGTAGGAGGACAAAATCCTTGCCCTCACATAGATGACTTATTTAGTATGTTAGAATAGTACACCTTTAAATGAAAACTTAAATTACACAATACCAGTGCAGACTGAGAAATACAGTGTGAGAAAAGAATCTTTCTATTAATGTCTAACTCGCTGGATGTTACACTCACCCCAGGGCACATTTGTGTTTGCATGTGTATTTCTGAGTGTGTACATGAGAGATGGAATGTCTGCATACACGTCTGAATGAACAGATATTCCATCTAAATTCCCACATTACTACAAGTTGATGAATCAGTGTTGTCCTGCAAATGACAACATTTTAGTTCAAGTAATATTCTATGCTTTGGTACATTGAATTCACACATATTTACAGAACTCCTACCTACTGGCATTTGTCAGCATTTTGAAGGAGCATAGCACAGTGGAAAGAACACCGGCTTAGGAGTCAGAAGACCTGGGTTCAAGGACAGGCTGTGTTATTTACTGTCATTGGAATGTGGGACATCTGGAGGATGGAGAGAATCTGAGGCCTGCCTATCTCCTTCACAAGGGTTTTGCAAACAAAACAAGAGACTAGAAATGAGAGGTTTTTTTACAAACAAAAGTGTACCATCTGACCAGGCCCTAGACCTCACCACTCCCTCCTACCTTACCCTACACAGCTTTCCTGACTAGAACTGGACTCAATCACCAGCCTGCCCTGCAGAGAGTCATCAGACCTAAGAAGAGGTGCCTACCTCACTCACAGTTCTGTTAATGTTCAACATATGAATATGAGGACAAAATTAATTAAGCACATTTAACTCTCACTCTACTACATTATCCTCCTGGGTTATATGCTGAATATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCGTGGGCCAGGTAGGCCTGGCCACTGGCCACTGCCGCCTCCTTACCCTCCACAACGCCCACACCCACACTGCTCCGCCGCGTGTTCATCGGGGCCACAAAGAACCACTCGTTGGTCTTGTAGCTGTAGGCTTCCACCGATGCTAGGCCTGGGAGACAAGAGACTCATGAGACTTCCGTGGCACCAGGCCTCACCCTGCTGTGTGAGAAGCAGTGAGGATGGGGGAGGAGTCCAAATGCATGGGCTGGAAACCTAAATGTATGGCTCAGTACCACCTCTGCATCACCATGCGGCCTGTGGCAACTCCCTGAAACACATCTGCAGTGTCTGCCTGCAGGGACTATTAAGACTTGACTCAGAGAGTGGGCTGTGAAAGGACAAGGGGTGTGTCTGAAATGCATGGCAAATGTAGATCATAAAAACCGCAGAGTGGGATACTTTGATTCCAAGTAGTCACCTGAGGTAGCCTCACTGAACACCTATTCCAATCCCCTTTCCCCCAGCTTCCTCTATCTTAGCAGTGGAAAGCTAAACACTTGCTTCCCAAGACTCCCTTGCAGCTAGGCGTGACCAAGTCAATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTC
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GGTCCTCTCAATTGACCCATCTAAAAGAAAGAAACACATCGTCCTCAGTTCTGCACTCACCAAAGTCAAAATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAGACAGTGTGGAGAGCTGTCTCTTCAAGGCCACAGTGAAGAAGACAGAGTCCACTTAAGTCCCTCCCTCAACATTCTCACCACAGCTGTAAATTGAACTCTGCTGCCCCAGGGTGCCCACAGCTGAAAGAGCTTCAGATTCAGGAAGGGCAGAAGAAACAAATTCCCAGCCTGTCTTCCACGTCAACAGGGCATGCTACAAGACAGCACTTCTTCCACATACAGAACATGCTCACAAAAGCCTTTGTCAAGGGGAGTATTTTAAATTACCACCATTATGGCACCTCCTCTAACCCCCATCAACCATTCCATCTGCATCAGCTGAAAAAATATGCACTCAAGGTTCCTCCTTGAGTCTATTAACAGGGATTTGCTATTTTTAACCCCTACTCTATTGTTTGATATTCCTGGCTAAGGAACAAGAGAAGAAATGAGAAGGTGGCTAGACAAAGCACTTACACTTGGCAGACAAATCAATTTCTCTTCCACCAAGAGAATGAGATTGCAAGATACAATTTACCTTGGTAGGAGGACAAAATCCTTGCCCTCACATAGATGACTTATTTAGTATGTTAGAATAGTACACCTTTAAATGAAAACTTAAATTACACAATACCAGTGCAGACTGAGAAATACAGTGTGAGAAAAGAATCTTTCTATTAATGTCTAACTCGCTGGATGTTACACTCACCCCAGGGCACATTTGTGTTTGCATGTGTATTTCTGAGTGTGTACATGAGAGATGGAATGTCTGCATACACGTCTGAATGAACAGATATTCCATCTAAATTCCCACATTACTACAAGTTGATGAATCAGTGTTGTCCTGCAAATGACAACATTTTAGTTCAAGTAATATTCTATGCTTTGGTACATTGAATTCACACATATTTACAGAACTCCTACCTACTGGCATTTGTCAGCATTTTGAAGGAGCATAGCACAGTGGAAAGAACACCGGCTTAGGAGTCAGAAGACCTGGGTTCAAGGACAGGCTGTGTTATTTACTGTCATTGGAATGTGGGACATCTGGAGGATGGAGAGAATCTGAGGCCTGCCTATCTCCTTCACAAGGGTTTTGCAAACAAAACAAGAGACTAGAAATGAGAGGTTTTTTTACAAACAAAAGTGTACCATCTGACCAGGCCCTAGACCTCACCACTCCCTCCTACCTTACCCTACACAGCTTTCCTGACTAGAACTGGACTCAATCACCAGCCTGCCCTGCAGAGAGTCATCAGACCTAAGAAGAGGTGCCTACCTCACTCACAGTTCTGTTAATGTTCAACATATGAATATGAGGACAAAATTAATTAAGCACATTTAACTCTCACTCTACTACATTATCCTCCTGGGTTATATGCTGAATATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCGTGGGCCAGGTAGGCCTGGCCACTGGCCACTGCCGCCTCCTTACCCTCCACAACGCCCACACCCACATTGCTCCGCCGCGTGTTCATCGGGGCCACAAAGAACCACTCGTTGGTCTTGTAGCTGTAGGCTTCCACCGATGCTAGGCCTGGGAGACAAGAGACTCATGAGACTTCCGTGGCACCAGGCCTCACCCTGCTGTGTGAGAAGCAGTGAGGATGGGGGAGGAGTCCAAATGCATGGGCTGGAAACCTAAATGTATGGCTCAGTACCACCTCTGCATCACCATGCGGCCTGTGGCAACTCCCTGAAACACATCTGCAGTGTCTGCCTGCAGGGACTATTAAGACTTGACTCAGAGAGTGGGCTGTGAAAGGACAAGGGGTGTGTCTGAAATGCATGGCAAATGTAGATCATAAAAACCGCAGAGTGGGATACTTTGATTCCAAGTAGTCACCTGAGGTAGCCTCACTGAACACCTATTCCAATCCCCTTTCCCCCAGCTTCCTCTATCTTAGCAGTGGAAAGCTAAACACTTGCTTCCCAAGACTCCCTTGCAGCTAGGCGTGACCAAGTCAATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTC
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Task1_train_9509
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Here is a variant affecting KLHL3 (kelch like family member 3) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not specified
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CTCAATTGACCCATCTAAAAGAAAGAAACACATCGTCCTCAGTTCTGCACTCACCAAAGTCAAAATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAGACAGTGTGGAGAGCTGTCTCTTCAAGGCCACAGTGAAGAAGACAGAGTCCACTTAAGTCCCTCCCTCAACATTCTCACCACAGCTGTAAATTGAACTCTGCTGCCCCAGGGTGCCCACAGCTGAAAGAGCTTCAGATTCAGGAAGGGCAGAAGAAACAAATTCCCAGCCTGTCTTCCACGTCAACAGGGCATGCTACAAGACAGCACTTCTTCCACATACAGAACATGCTCACAAAAGCCTTTGTCAAGGGGAGTATTTTAAATTACCACCATTATGGCACCTCCTCTAACCCCCATCAACCATTCCATCTGCATCAGCTGAAAAAATATGCACTCAAGGTTCCTCCTTGAGTCTATTAACAGGGATTTGCTATTTTTAACCCCTACTCTATTGTTTGATATTCCTGGCTAAGGAACAAGAGAAGAAATGAGAAGGTGGCTAGACAAAGCACTTACACTTGGCAGACAAATCAATTTCTCTTCCACCAAGAGAATGAGATTGCAAGATACAATTTACCTTGGTAGGAGGACAAAATCCTTGCCCTCACATAGATGACTTATTTAGTATGTTAGAATAGTACACCTTTAAATGAAAACTTAAATTACACAATACCAGTGCAGACTGAGAAATACAGTGTGAGAAAAGAATCTTTCTATTAATGTCTAACTCGCTGGATGTTACACTCACCCCAGGGCACATTTGTGTTTGCATGTGTATTTCTGAGTGTGTACATGAGAGATGGAATGTCTGCATACACGTCTGAATGAACAGATATTCCATCTAAATTCCCACATTACTACAAGTTGATGAATCAGTGTTGTCCTGCAAATGACAACATTTTAGTTCAAGTAATATTCTATGCTTTGGTACATTGAATTCACACATATTTACAGAACTCCTACCTACTGGCATTTGTCAGCATTTTGAAGGAGCATAGCACAGTGGAAAGAACACCGGCTTAGGAGTCAGAAGACCTGGGTTCAAGGACAGGCTGTGTTATTTACTGTCATTGGAATGTGGGACATCTGGAGGATGGAGAGAATCTGAGGCCTGCCTATCTCCTTCACAAGGGTTTTGCAAACAAAACAAGAGACTAGAAATGAGAGGTTTTTTTACAAACAAAAGTGTACCATCTGACCAGGCCCTAGACCTCACCACTCCCTCCTACCTTACCCTACACAGCTTTCCTGACTAGAACTGGACTCAATCACCAGCCTGCCCTGCAGAGAGTCATCAGACCTAAGAAGAGGTGCCTACCTCACTCACAGTTCTGTTAATGTTCAACATATGAATATGAGGACAAAATTAATTAAGCACATTTAACTCTCACTCTACTACATTATCCTCCTGGGTTATATGCTGAATATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCGTGGGCCAGGTAGGCCTGGCCACTGGCCACTGCCGCCTCCTTACCCTCCACAACGCCCACACCCACACTGCTCCGCCGCGTGTTCATCGGGGCCACAAAGAACCACTCGTTGGTCTTGTAGCTGTAGGCTTCCACCGATGCTAGGCCTGGGAGACAAGAGACTCATGAGACTTCCGTGGCACCAGGCCTCACCCTGCTGTGTGAGAAGCAGTGAGGATGGGGGAGGAGTCCAAATGCATGGGCTGGAAACCTAAATGTATGGCTCAGTACCACCTCTGCATCACCATGCGGCCTGTGGCAACTCCCTGAAACACATCTGCAGTGTCTGCCTGCAGGGACTATTAAGACTTGACTCAGAGAGTGGGCTGTGAAAGGACAAGGGGTGTGTCTGAAATGCATGGCAAATGTAGATCATAAAAACCGCAGAGTGGGATACTTTGATTCCAAGTAGTCACCTGAGGTAGCCTCACTGAACACCTATTCCAATCCCCTTTCCCCCAGCTTCCTCTATCTTAGCAGTGGAAAGCTAAACACTTGCTTCCCAAGACTCCCTTGCAGCTAGGCGTGACCAAGTCAATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAG
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CTCAATTGACCCATCTAAAAGAAAGAAACACATCGTCCTCAGTTCTGCACTCACCAAAGTCAAAATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAGACAGTGTGGAGAGCTGTCTCTTCAAGGCCACAGTGAAGAAGACAGAGTCCACTTAAGTCCCTCCCTCAACATTCTCACCACAGCTGTAAATTGAACTCTGCTGCCCCAGGGTGCCCACAGCTGAAAGAGCTTCAGATTCAGGAAGGGCAGAAGAAACAAATTCCCAGCCTGTCTTCCACGTCAACAGGGCATGCTACAAGACAGCACTTCTTCCACATACAGAACATGCTCACAAAAGCCTTTGTCAAGGGGAGTATTTTAAATTACCACCATTATGGCACCTCCTCTAACCCCCATCAACCATTCCATCTGCATCAGCTGAAAAAATATGCACTCAAGGTTCCTCCTTGAGTCTATTAACAGGGATTTGCTATTTTTAACCCCTACTCTATTGTTTGATATTCCTGGCTAAGGAACAAGAGAAGAAATGAGAAGGTGGCTAGACAAAGCACTTACACTTGGCAGACAAATCAATTTCTCTTCCACCAAGAGAATGAGATTGCAAGATACAATTTACCTTGGTAGGAGGACAAAATCCTTGCCCTCACATAGATGACTTATTTAGTATGTTAGAATAGTACACCTTTAAATGAAAACTTAAATTACACAATACCAGTGCAGACTGAGAAATACAGTGTGAGAAAAGAATCTTTCTATTAATGTCTAACTCGCTGGATGTTACACTCACCCCAGGGCACATTTGTGTTTGCATGTGTATTTCTGAGTGTGTACATGAGAGATGGAATGTCTGCATACACGTCTGAATGAACAGATATTCCATCTAAATTCCCACATTACTACAAGTTGATGAATCAGTGTTGTCCTGCAAATGACAACATTTTAGTTCAAGTAATATTCTATGCTTTGGTACATTGAATTCACACATATTTACAGAACTCCTACCTACTGGCATTTGTCAGCATTTTGAAGGAGCATAGCACAGTGGAAAGAACACCGGCTTAGGAGTCAGAAGACCTGGGTTCAAGGACAGGCTGTGTTATTTACTGTCATTGGAATGTGGGACATCTGGAGGATGGAGAGAATCTGAGGCCTGCCTATCTCCTTCACAAGGGTTTTGCAAACAAAACAAGAGACTAGAAATGAGAGGTTTTTTTACAAACAAAAGTGTACCATCTGACCAGGCCCTAGACCTCACCACTCCCTCCTACCTTACCCTACACAGCTTTCCTGACTAGAACTGGACTCAATCACCAGCCTGCCCTGCAGAGAGTCATCAGACCTAAGAAGAGGTGCCTACCTCACTCACAGTTCTGTTAATGTTCAACATATGAATATGAGGACAAAATTAATTAAGCACATTTAACTCTCACTCTACTACATTATCCTCCTGGGTTATATGCTGAATATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCGTGGGCCAGGTAGGCCTGGCCACTGGCCACTGCCGCCTCCTTACCCTCCACAACGCCCACACCCACACTGCTCTGCCGCGTGTTCATCGGGGCCACAAAGAACCACTCGTTGGTCTTGTAGCTGTAGGCTTCCACCGATGCTAGGCCTGGGAGACAAGAGACTCATGAGACTTCCGTGGCACCAGGCCTCACCCTGCTGTGTGAGAAGCAGTGAGGATGGGGGAGGAGTCCAAATGCATGGGCTGGAAACCTAAATGTATGGCTCAGTACCACCTCTGCATCACCATGCGGCCTGTGGCAACTCCCTGAAACACATCTGCAGTGTCTGCCTGCAGGGACTATTAAGACTTGACTCAGAGAGTGGGCTGTGAAAGGACAAGGGGTGTGTCTGAAATGCATGGCAAATGTAGATCATAAAAACCGCAGAGTGGGATACTTTGATTCCAAGTAGTCACCTGAGGTAGCCTCACTGAACACCTATTCCAATCCCCTTTCCCCCAGCTTCCTCTATCTTAGCAGTGGAAAGCTAAACACTTGCTTCCCAAGACTCCCTTGCAGCTAGGCGTGACCAAGTCAATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAG
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Task1_train_9510
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The gene KLHL3 (kelch like family member 3), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Pseudohypoaldosteronism type 2D
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ATCTAAAAGAAAGAAACACATCGTCCTCAGTTCTGCACTCACCAAAGTCAAAATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAGACAGTGTGGAGAGCTGTCTCTTCAAGGCCACAGTGAAGAAGACAGAGTCCACTTAAGTCCCTCCCTCAACATTCTCACCACAGCTGTAAATTGAACTCTGCTGCCCCAGGGTGCCCACAGCTGAAAGAGCTTCAGATTCAGGAAGGGCAGAAGAAACAAATTCCCAGCCTGTCTTCCACGTCAACAGGGCATGCTACAAGACAGCACTTCTTCCACATACAGAACATGCTCACAAAAGCCTTTGTCAAGGGGAGTATTTTAAATTACCACCATTATGGCACCTCCTCTAACCCCCATCAACCATTCCATCTGCATCAGCTGAAAAAATATGCACTCAAGGTTCCTCCTTGAGTCTATTAACAGGGATTTGCTATTTTTAACCCCTACTCTATTGTTTGATATTCCTGGCTAAGGAACAAGAGAAGAAATGAGAAGGTGGCTAGACAAAGCACTTACACTTGGCAGACAAATCAATTTCTCTTCCACCAAGAGAATGAGATTGCAAGATACAATTTACCTTGGTAGGAGGACAAAATCCTTGCCCTCACATAGATGACTTATTTAGTATGTTAGAATAGTACACCTTTAAATGAAAACTTAAATTACACAATACCAGTGCAGACTGAGAAATACAGTGTGAGAAAAGAATCTTTCTATTAATGTCTAACTCGCTGGATGTTACACTCACCCCAGGGCACATTTGTGTTTGCATGTGTATTTCTGAGTGTGTACATGAGAGATGGAATGTCTGCATACACGTCTGAATGAACAGATATTCCATCTAAATTCCCACATTACTACAAGTTGATGAATCAGTGTTGTCCTGCAAATGACAACATTTTAGTTCAAGTAATATTCTATGCTTTGGTACATTGAATTCACACATATTTACAGAACTCCTACCTACTGGCATTTGTCAGCATTTTGAAGGAGCATAGCACAGTGGAAAGAACACCGGCTTAGGAGTCAGAAGACCTGGGTTCAAGGACAGGCTGTGTTATTTACTGTCATTGGAATGTGGGACATCTGGAGGATGGAGAGAATCTGAGGCCTGCCTATCTCCTTCACAAGGGTTTTGCAAACAAAACAAGAGACTAGAAATGAGAGGTTTTTTTACAAACAAAAGTGTACCATCTGACCAGGCCCTAGACCTCACCACTCCCTCCTACCTTACCCTACACAGCTTTCCTGACTAGAACTGGACTCAATCACCAGCCTGCCCTGCAGAGAGTCATCAGACCTAAGAAGAGGTGCCTACCTCACTCACAGTTCTGTTAATGTTCAACATATGAATATGAGGACAAAATTAATTAAGCACATTTAACTCTCACTCTACTACATTATCCTCCTGGGTTATATGCTGAATATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCGTGGGCCAGGTAGGCCTGGCCACTGGCCACTGCCGCCTCCTTACCCTCCACAACGCCCACACCCACACTGCTCCGCCGCGTGTTCATCGGGGCCACAAAGAACCACTCGTTGGTCTTGTAGCTGTAGGCTTCCACCGATGCTAGGCCTGGGAGACAAGAGACTCATGAGACTTCCGTGGCACCAGGCCTCACCCTGCTGTGTGAGAAGCAGTGAGGATGGGGGAGGAGTCCAAATGCATGGGCTGGAAACCTAAATGTATGGCTCAGTACCACCTCTGCATCACCATGCGGCCTGTGGCAACTCCCTGAAACACATCTGCAGTGTCTGCCTGCAGGGACTATTAAGACTTGACTCAGAGAGTGGGCTGTGAAAGGACAAGGGGTGTGTCTGAAATGCATGGCAAATGTAGATCATAAAAACCGCAGAGTGGGATACTTTGATTCCAAGTAGTCACCTGAGGTAGCCTCACTGAACACCTATTCCAATCCCCTTTCCCCCAGCTTCCTCTATCTTAGCAGTGGAAAGCTAAACACTTGCTTCCCAAGACTCCCTTGCAGCTAGGCGTGACCAAGTCAATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACT
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ATCTAAAAGAAAGAAACACATCGTCCTCAGTTCTGCACTCACCAAAGTCAAAATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAGACAGTGTGGAGAGCTGTCTCTTCAAGGCCACAGTGAAGAAGACAGAGTCCACTTAAGTCCCTCCCTCAACATTCTCACCACAGCTGTAAATTGAACTCTGCTGCCCCAGGGTGCCCACAGCTGAAAGAGCTTCAGATTCAGGAAGGGCAGAAGAAACAAATTCCCAGCCTGTCTTCCACGTCAACAGGGCATGCTACAAGACAGCACTTCTTCCACATACAGAACATGCTCACAAAAGCCTTTGTCAAGGGGAGTATTTTAAATTACCACCATTATGGCACCTCCTCTAACCCCCATCAACCATTCCATCTGCATCAGCTGAAAAAATATGCACTCAAGGTTCCTCCTTGAGTCTATTAACAGGGATTTGCTATTTTTAACCCCTACTCTATTGTTTGATATTCCTGGCTAAGGAACAAGAGAAGAAATGAGAAGGTGGCTAGACAAAGCACTTACACTTGGCAGACAAATCAATTTCTCTTCCACCAAGAGAATGAGATTGCAAGATACAATTTACCTTGGTAGGAGGACAAAATCCTTGCCCTCACATAGATGACTTATTTAGTATGTTAGAATAGTACACCTTTAAATGAAAACTTAAATTACACAATACCAGTGCAGACTGAGAAATACAGTGTGAGAAAAGAATCTTTCTATTAATGTCTAACTCGCTGGATGTTACACTCACCCCAGGGCACATTTGTGTTTGCATGTGTATTTCTGAGTGTGTACATGAGAGATGGAATGTCTGCATACACGTCTGAATGAACAGATATTCCATCTAAATTCCCACATTACTACAAGTTGATGAATCAGTGTTGTCCTGCAAATGACAACATTTTAGTTCAAGTAATATTCTATGCTTTGGTACATTGAATTCACACATATTTACAGAACTCCTACCTACTGGCATTTGTCAGCATTTTGAAGGAGCATAGCACAGTGGAAAGAACACCGGCTTAGGAGTCAGAAGACCTGGGTTCAAGGACAGGCTGTGTTATTTACTGTCATTGGAATGTGGGACATCTGGAGGATGGAGAGAATCTGAGGCCTGCCTATCTCCTTCACAAGGGTTTTGCAAACAAAACAAGAGACTAGAAATGAGAGGTTTTTTTACAAACAAAAGTGTACCATCTGACCAGGCCCTAGACCTCACCACTCCCTCCTACCTTACCCTACACAGCTTTCCTGACTAGAACTGGACTCAATCACCAGCCTGCCCTGCAGAGAGTCATCAGACCTAAGAAGAGGTGCCTACCTCACTCACAGTTCTGTTAATGTTCAACATATGAATATGAGGACAAAATTAATTAAGCACATTTAACTCTCACTCTACTACATTATCCTCCTGGGTTATATGCTGAATATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCGTGGGCCAGGTAGGCCTGGCCACTGGCCACTGCCGCCTCCTTACCCTCCACAACGCCCACACCCACACTGCTCCGCCGCGTGTTCGTCGGGGCCACAAAGAACCACTCGTTGGTCTTGTAGCTGTAGGCTTCCACCGATGCTAGGCCTGGGAGACAAGAGACTCATGAGACTTCCGTGGCACCAGGCCTCACCCTGCTGTGTGAGAAGCAGTGAGGATGGGGGAGGAGTCCAAATGCATGGGCTGGAAACCTAAATGTATGGCTCAGTACCACCTCTGCATCACCATGCGGCCTGTGGCAACTCCCTGAAACACATCTGCAGTGTCTGCCTGCAGGGACTATTAAGACTTGACTCAGAGAGTGGGCTGTGAAAGGACAAGGGGTGTGTCTGAAATGCATGGCAAATGTAGATCATAAAAACCGCAGAGTGGGATACTTTGATTCCAAGTAGTCACCTGAGGTAGCCTCACTGAACACCTATTCCAATCCCCTTTCCCCCAGCTTCCTCTATCTTAGCAGTGGAAAGCTAAACACTTGCTTCCCAAGACTCCCTTGCAGCTAGGCGTGACCAAGTCAATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACT
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Task1_train_9511
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Gene KLHL3 (kelch like family member 3) on Chromosome 5 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Pseudohypoaldosteronism type 2D
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TAAAAGAAAGAAACACATCGTCCTCAGTTCTGCACTCACCAAAGTCAAAATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAGACAGTGTGGAGAGCTGTCTCTTCAAGGCCACAGTGAAGAAGACAGAGTCCACTTAAGTCCCTCCCTCAACATTCTCACCACAGCTGTAAATTGAACTCTGCTGCCCCAGGGTGCCCACAGCTGAAAGAGCTTCAGATTCAGGAAGGGCAGAAGAAACAAATTCCCAGCCTGTCTTCCACGTCAACAGGGCATGCTACAAGACAGCACTTCTTCCACATACAGAACATGCTCACAAAAGCCTTTGTCAAGGGGAGTATTTTAAATTACCACCATTATGGCACCTCCTCTAACCCCCATCAACCATTCCATCTGCATCAGCTGAAAAAATATGCACTCAAGGTTCCTCCTTGAGTCTATTAACAGGGATTTGCTATTTTTAACCCCTACTCTATTGTTTGATATTCCTGGCTAAGGAACAAGAGAAGAAATGAGAAGGTGGCTAGACAAAGCACTTACACTTGGCAGACAAATCAATTTCTCTTCCACCAAGAGAATGAGATTGCAAGATACAATTTACCTTGGTAGGAGGACAAAATCCTTGCCCTCACATAGATGACTTATTTAGTATGTTAGAATAGTACACCTTTAAATGAAAACTTAAATTACACAATACCAGTGCAGACTGAGAAATACAGTGTGAGAAAAGAATCTTTCTATTAATGTCTAACTCGCTGGATGTTACACTCACCCCAGGGCACATTTGTGTTTGCATGTGTATTTCTGAGTGTGTACATGAGAGATGGAATGTCTGCATACACGTCTGAATGAACAGATATTCCATCTAAATTCCCACATTACTACAAGTTGATGAATCAGTGTTGTCCTGCAAATGACAACATTTTAGTTCAAGTAATATTCTATGCTTTGGTACATTGAATTCACACATATTTACAGAACTCCTACCTACTGGCATTTGTCAGCATTTTGAAGGAGCATAGCACAGTGGAAAGAACACCGGCTTAGGAGTCAGAAGACCTGGGTTCAAGGACAGGCTGTGTTATTTACTGTCATTGGAATGTGGGACATCTGGAGGATGGAGAGAATCTGAGGCCTGCCTATCTCCTTCACAAGGGTTTTGCAAACAAAACAAGAGACTAGAAATGAGAGGTTTTTTTACAAACAAAAGTGTACCATCTGACCAGGCCCTAGACCTCACCACTCCCTCCTACCTTACCCTACACAGCTTTCCTGACTAGAACTGGACTCAATCACCAGCCTGCCCTGCAGAGAGTCATCAGACCTAAGAAGAGGTGCCTACCTCACTCACAGTTCTGTTAATGTTCAACATATGAATATGAGGACAAAATTAATTAAGCACATTTAACTCTCACTCTACTACATTATCCTCCTGGGTTATATGCTGAATATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCGTGGGCCAGGTAGGCCTGGCCACTGGCCACTGCCGCCTCCTTACCCTCCACAACGCCCACACCCACACTGCTCCGCCGCGTGTTCATCGGGGCCACAAAGAACCACTCGTTGGTCTTGTAGCTGTAGGCTTCCACCGATGCTAGGCCTGGGAGACAAGAGACTCATGAGACTTCCGTGGCACCAGGCCTCACCCTGCTGTGTGAGAAGCAGTGAGGATGGGGGAGGAGTCCAAATGCATGGGCTGGAAACCTAAATGTATGGCTCAGTACCACCTCTGCATCACCATGCGGCCTGTGGCAACTCCCTGAAACACATCTGCAGTGTCTGCCTGCAGGGACTATTAAGACTTGACTCAGAGAGTGGGCTGTGAAAGGACAAGGGGTGTGTCTGAAATGCATGGCAAATGTAGATCATAAAAACCGCAGAGTGGGATACTTTGATTCCAAGTAGTCACCTGAGGTAGCCTCACTGAACACCTATTCCAATCCCCTTTCCCCCAGCTTCCTCTATCTTAGCAGTGGAAAGCTAAACACTTGCTTCCCAAGACTCCCTTGCAGCTAGGCGTGACCAAGTCAATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACTGAC
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TAAAAGAAAGAAACACATCGTCCTCAGTTCTGCACTCACCAAAGTCAAAATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAGACAGTGTGGAGAGCTGTCTCTTCAAGGCCACAGTGAAGAAGACAGAGTCCACTTAAGTCCCTCCCTCAACATTCTCACCACAGCTGTAAATTGAACTCTGCTGCCCCAGGGTGCCCACAGCTGAAAGAGCTTCAGATTCAGGAAGGGCAGAAGAAACAAATTCCCAGCCTGTCTTCCACGTCAACAGGGCATGCTACAAGACAGCACTTCTTCCACATACAGAACATGCTCACAAAAGCCTTTGTCAAGGGGAGTATTTTAAATTACCACCATTATGGCACCTCCTCTAACCCCCATCAACCATTCCATCTGCATCAGCTGAAAAAATATGCACTCAAGGTTCCTCCTTGAGTCTATTAACAGGGATTTGCTATTTTTAACCCCTACTCTATTGTTTGATATTCCTGGCTAAGGAACAAGAGAAGAAATGAGAAGGTGGCTAGACAAAGCACTTACACTTGGCAGACAAATCAATTTCTCTTCCACCAAGAGAATGAGATTGCAAGATACAATTTACCTTGGTAGGAGGACAAAATCCTTGCCCTCACATAGATGACTTATTTAGTATGTTAGAATAGTACACCTTTAAATGAAAACTTAAATTACACAATACCAGTGCAGACTGAGAAATACAGTGTGAGAAAAGAATCTTTCTATTAATGTCTAACTCGCTGGATGTTACACTCACCCCAGGGCACATTTGTGTTTGCATGTGTATTTCTGAGTGTGTACATGAGAGATGGAATGTCTGCATACACGTCTGAATGAACAGATATTCCATCTAAATTCCCACATTACTACAAGTTGATGAATCAGTGTTGTCCTGCAAATGACAACATTTTAGTTCAAGTAATATTCTATGCTTTGGTACATTGAATTCACACATATTTACAGAACTCCTACCTACTGGCATTTGTCAGCATTTTGAAGGAGCATAGCACAGTGGAAAGAACACCGGCTTAGGAGTCAGAAGACCTGGGTTCAAGGACAGGCTGTGTTATTTACTGTCATTGGAATGTGGGACATCTGGAGGATGGAGAGAATCTGAGGCCTGCCTATCTCCTTCACAAGGGTTTTGCAAACAAAACAAGAGACTAGAAATGAGAGGTTTTTTTACAAACAAAAGTGTACCATCTGACCAGGCCCTAGACCTCACCACTCCCTCCTACCTTACCCTACACAGCTTTCCTGACTAGAACTGGACTCAATCACCAGCCTGCCCTGCAGAGAGTCATCAGACCTAAGAAGAGGTGCCTACCTCACTCACAGTTCTGTTAATGTTCAACATATGAATATGAGGACAAAATTAATTAAGCACATTTAACTCTCACTCTACTACATTATCCTCCTGGGTTATATGCTGAATATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCGTGGGCCAGGTAGGCCTGGCCACTGGCCACTGCCGCCTCCTTACCCTCCACAACGCCCACACCCACACTGCTCCGCCGCGTGTTCATCAGGGCCACAAAGAACCACTCGTTGGTCTTGTAGCTGTAGGCTTCCACCGATGCTAGGCCTGGGAGACAAGAGACTCATGAGACTTCCGTGGCACCAGGCCTCACCCTGCTGTGTGAGAAGCAGTGAGGATGGGGGAGGAGTCCAAATGCATGGGCTGGAAACCTAAATGTATGGCTCAGTACCACCTCTGCATCACCATGCGGCCTGTGGCAACTCCCTGAAACACATCTGCAGTGTCTGCCTGCAGGGACTATTAAGACTTGACTCAGAGAGTGGGCTGTGAAAGGACAAGGGGTGTGTCTGAAATGCATGGCAAATGTAGATCATAAAAACCGCAGAGTGGGATACTTTGATTCCAAGTAGTCACCTGAGGTAGCCTCACTGAACACCTATTCCAATCCCCTTTCCCCCAGCTTCCTCTATCTTAGCAGTGGAAAGCTAAACACTTGCTTCCCAAGACTCCCTTGCAGCTAGGCGTGACCAAGTCAATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACTGAC
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Task1_train_9512
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The gene KLHL3 (kelch like family member 3) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Pseudohypoaldosteronism type 2A
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AATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAGACAGTGTGGAGAGCTGTCTCTTCAAGGCCACAGTGAAGAAGACAGAGTCCACTTAAGTCCCTCCCTCAACATTCTCACCACAGCTGTAAATTGAACTCTGCTGCCCCAGGGTGCCCACAGCTGAAAGAGCTTCAGATTCAGGAAGGGCAGAAGAAACAAATTCCCAGCCTGTCTTCCACGTCAACAGGGCATGCTACAAGACAGCACTTCTTCCACATACAGAACATGCTCACAAAAGCCTTTGTCAAGGGGAGTATTTTAAATTACCACCATTATGGCACCTCCTCTAACCCCCATCAACCATTCCATCTGCATCAGCTGAAAAAATATGCACTCAAGGTTCCTCCTTGAGTCTATTAACAGGGATTTGCTATTTTTAACCCCTACTCTATTGTTTGATATTCCTGGCTAAGGAACAAGAGAAGAAATGAGAAGGTGGCTAGACAAAGCACTTACACTTGGCAGACAAATCAATTTCTCTTCCACCAAGAGAATGAGATTGCAAGATACAATTTACCTTGGTAGGAGGACAAAATCCTTGCCCTCACATAGATGACTTATTTAGTATGTTAGAATAGTACACCTTTAAATGAAAACTTAAATTACACAATACCAGTGCAGACTGAGAAATACAGTGTGAGAAAAGAATCTTTCTATTAATGTCTAACTCGCTGGATGTTACACTCACCCCAGGGCACATTTGTGTTTGCATGTGTATTTCTGAGTGTGTACATGAGAGATGGAATGTCTGCATACACGTCTGAATGAACAGATATTCCATCTAAATTCCCACATTACTACAAGTTGATGAATCAGTGTTGTCCTGCAAATGACAACATTTTAGTTCAAGTAATATTCTATGCTTTGGTACATTGAATTCACACATATTTACAGAACTCCTACCTACTGGCATTTGTCAGCATTTTGAAGGAGCATAGCACAGTGGAAAGAACACCGGCTTAGGAGTCAGAAGACCTGGGTTCAAGGACAGGCTGTGTTATTTACTGTCATTGGAATGTGGGACATCTGGAGGATGGAGAGAATCTGAGGCCTGCCTATCTCCTTCACAAGGGTTTTGCAAACAAAACAAGAGACTAGAAATGAGAGGTTTTTTTACAAACAAAAGTGTACCATCTGACCAGGCCCTAGACCTCACCACTCCCTCCTACCTTACCCTACACAGCTTTCCTGACTAGAACTGGACTCAATCACCAGCCTGCCCTGCAGAGAGTCATCAGACCTAAGAAGAGGTGCCTACCTCACTCACAGTTCTGTTAATGTTCAACATATGAATATGAGGACAAAATTAATTAAGCACATTTAACTCTCACTCTACTACATTATCCTCCTGGGTTATATGCTGAATATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCGTGGGCCAGGTAGGCCTGGCCACTGGCCACTGCCGCCTCCTTACCCTCCACAACGCCCACACCCACACTGCTCCGCCGCGTGTTCATCGGGGCCACAAAGAACCACTCGTTGGTCTTGTAGCTGTAGGCTTCCACCGATGCTAGGCCTGGGAGACAAGAGACTCATGAGACTTCCGTGGCACCAGGCCTCACCCTGCTGTGTGAGAAGCAGTGAGGATGGGGGAGGAGTCCAAATGCATGGGCTGGAAACCTAAATGTATGGCTCAGTACCACCTCTGCATCACCATGCGGCCTGTGGCAACTCCCTGAAACACATCTGCAGTGTCTGCCTGCAGGGACTATTAAGACTTGACTCAGAGAGTGGGCTGTGAAAGGACAAGGGGTGTGTCTGAAATGCATGGCAAATGTAGATCATAAAAACCGCAGAGTGGGATACTTTGATTCCAAGTAGTCACCTGAGGTAGCCTCACTGAACACCTATTCCAATCCCCTTTCCCCCAGCTTCCTCTATCTTAGCAGTGGAAAGCTAAACACTTGCTTCCCAAGACTCCCTTGCAGCTAGGCGTGACCAAGTCAATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACTGACCCCAAAAGAGCCAAAAACTGTGCAAGTGGCCGGGCATGGTAGCTCACG
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AATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAGACAGTGTGGAGAGCTGTCTCTTCAAGGCCACAGTGAAGAAGACAGAGTCCACTTAAGTCCCTCCCTCAACATTCTCACCACAGCTGTAAATTGAACTCTGCTGCCCCAGGGTGCCCACAGCTGAAAGAGCTTCAGATTCAGGAAGGGCAGAAGAAACAAATTCCCAGCCTGTCTTCCACGTCAACAGGGCATGCTACAAGACAGCACTTCTTCCACATACAGAACATGCTCACAAAAGCCTTTGTCAAGGGGAGTATTTTAAATTACCACCATTATGGCACCTCCTCTAACCCCCATCAACCATTCCATCTGCATCAGCTGAAAAAATATGCACTCAAGGTTCCTCCTTGAGTCTATTAACAGGGATTTGCTATTTTTAACCCCTACTCTATTGTTTGATATTCCTGGCTAAGGAACAAGAGAAGAAATGAGAAGGTGGCTAGACAAAGCACTTACACTTGGCAGACAAATCAATTTCTCTTCCACCAAGAGAATGAGATTGCAAGATACAATTTACCTTGGTAGGAGGACAAAATCCTTGCCCTCACATAGATGACTTATTTAGTATGTTAGAATAGTACACCTTTAAATGAAAACTTAAATTACACAATACCAGTGCAGACTGAGAAATACAGTGTGAGAAAAGAATCTTTCTATTAATGTCTAACTCGCTGGATGTTACACTCACCCCAGGGCACATTTGTGTTTGCATGTGTATTTCTGAGTGTGTACATGAGAGATGGAATGTCTGCATACACGTCTGAATGAACAGATATTCCATCTAAATTCCCACATTACTACAAGTTGATGAATCAGTGTTGTCCTGCAAATGACAACATTTTAGTTCAAGTAATATTCTATGCTTTGGTACATTGAATTCACACATATTTACAGAACTCCTACCTACTGGCATTTGTCAGCATTTTGAAGGAGCATAGCACAGTGGAAAGAACACCGGCTTAGGAGTCAGAAGACCTGGGTTCAAGGACAGGCTGTGTTATTTACTGTCATTGGAATGTGGGACATCTGGAGGATGGAGAGAATCTGAGGCCTGCCTATCTCCTTCACAAGGGTTTTGCAAACAAAACAAGAGACTAGAAATGAGAGGTTTTTTTACAAACAAAAGTGTACCATCTGACCAGGCCCTAGACCTCACCACTCCCTCCTACCTTACCCTACACAGCTTTCCTGACTAGAACTGGACTCAATCACCAGCCTGCCCTGCAGAGAGTCATCAGACCTAAGAAGAGGTGCCTACCTCACTCACAGTTCTGTTAATGTTCAACATATGAATATGAGGACAAAATTAATTAAGCACATTTAACTCTCACTCTACTACATTATCCTCCTGGGTTATATGCTGAATATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCGTGGGCCAGGTAGGCCTGGCCACTGGCCACTGCCGCCTCCTTACCCTCCACAACGCCCACACCCACACTGCTCCGCCGCGTGTTCATCGGGGCCACAAAGAACCACTCGTTGGTCTTGTAGCTGTAGGCTTCCACCAATGCTAGGCCTGGGAGACAAGAGACTCATGAGACTTCCGTGGCACCAGGCCTCACCCTGCTGTGTGAGAAGCAGTGAGGATGGGGGAGGAGTCCAAATGCATGGGCTGGAAACCTAAATGTATGGCTCAGTACCACCTCTGCATCACCATGCGGCCTGTGGCAACTCCCTGAAACACATCTGCAGTGTCTGCCTGCAGGGACTATTAAGACTTGACTCAGAGAGTGGGCTGTGAAAGGACAAGGGGTGTGTCTGAAATGCATGGCAAATGTAGATCATAAAAACCGCAGAGTGGGATACTTTGATTCCAAGTAGTCACCTGAGGTAGCCTCACTGAACACCTATTCCAATCCCCTTTCCCCCAGCTTCCTCTATCTTAGCAGTGGAAAGCTAAACACTTGCTTCCCAAGACTCCCTTGCAGCTAGGCGTGACCAAGTCAATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACTGACCCCAAAAGAGCCAAAAACTGTGCAAGTGGCCGGGCATGGTAGCTCACG
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Task1_train_9513
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Mutation context: Chromosome 5, Gene KLHL3 (kelch like family member 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Pseudohypoaldosteronism type 2D
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AATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAGACAGTGTGGAGAGCTGTCTCTTCAAGGCCACAGTGAAGAAGACAGAGTCCACTTAAGTCCCTCCCTCAACATTCTCACCACAGCTGTAAATTGAACTCTGCTGCCCCAGGGTGCCCACAGCTGAAAGAGCTTCAGATTCAGGAAGGGCAGAAGAAACAAATTCCCAGCCTGTCTTCCACGTCAACAGGGCATGCTACAAGACAGCACTTCTTCCACATACAGAACATGCTCACAAAAGCCTTTGTCAAGGGGAGTATTTTAAATTACCACCATTATGGCACCTCCTCTAACCCCCATCAACCATTCCATCTGCATCAGCTGAAAAAATATGCACTCAAGGTTCCTCCTTGAGTCTATTAACAGGGATTTGCTATTTTTAACCCCTACTCTATTGTTTGATATTCCTGGCTAAGGAACAAGAGAAGAAATGAGAAGGTGGCTAGACAAAGCACTTACACTTGGCAGACAAATCAATTTCTCTTCCACCAAGAGAATGAGATTGCAAGATACAATTTACCTTGGTAGGAGGACAAAATCCTTGCCCTCACATAGATGACTTATTTAGTATGTTAGAATAGTACACCTTTAAATGAAAACTTAAATTACACAATACCAGTGCAGACTGAGAAATACAGTGTGAGAAAAGAATCTTTCTATTAATGTCTAACTCGCTGGATGTTACACTCACCCCAGGGCACATTTGTGTTTGCATGTGTATTTCTGAGTGTGTACATGAGAGATGGAATGTCTGCATACACGTCTGAATGAACAGATATTCCATCTAAATTCCCACATTACTACAAGTTGATGAATCAGTGTTGTCCTGCAAATGACAACATTTTAGTTCAAGTAATATTCTATGCTTTGGTACATTGAATTCACACATATTTACAGAACTCCTACCTACTGGCATTTGTCAGCATTTTGAAGGAGCATAGCACAGTGGAAAGAACACCGGCTTAGGAGTCAGAAGACCTGGGTTCAAGGACAGGCTGTGTTATTTACTGTCATTGGAATGTGGGACATCTGGAGGATGGAGAGAATCTGAGGCCTGCCTATCTCCTTCACAAGGGTTTTGCAAACAAAACAAGAGACTAGAAATGAGAGGTTTTTTTACAAACAAAAGTGTACCATCTGACCAGGCCCTAGACCTCACCACTCCCTCCTACCTTACCCTACACAGCTTTCCTGACTAGAACTGGACTCAATCACCAGCCTGCCCTGCAGAGAGTCATCAGACCTAAGAAGAGGTGCCTACCTCACTCACAGTTCTGTTAATGTTCAACATATGAATATGAGGACAAAATTAATTAAGCACATTTAACTCTCACTCTACTACATTATCCTCCTGGGTTATATGCTGAATATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCGTGGGCCAGGTAGGCCTGGCCACTGGCCACTGCCGCCTCCTTACCCTCCACAACGCCCACACCCACACTGCTCCGCCGCGTGTTCATCGGGGCCACAAAGAACCACTCGTTGGTCTTGTAGCTGTAGGCTTCCACCGATGCTAGGCCTGGGAGACAAGAGACTCATGAGACTTCCGTGGCACCAGGCCTCACCCTGCTGTGTGAGAAGCAGTGAGGATGGGGGAGGAGTCCAAATGCATGGGCTGGAAACCTAAATGTATGGCTCAGTACCACCTCTGCATCACCATGCGGCCTGTGGCAACTCCCTGAAACACATCTGCAGTGTCTGCCTGCAGGGACTATTAAGACTTGACTCAGAGAGTGGGCTGTGAAAGGACAAGGGGTGTGTCTGAAATGCATGGCAAATGTAGATCATAAAAACCGCAGAGTGGGATACTTTGATTCCAAGTAGTCACCTGAGGTAGCCTCACTGAACACCTATTCCAATCCCCTTTCCCCCAGCTTCCTCTATCTTAGCAGTGGAAAGCTAAACACTTGCTTCCCAAGACTCCCTTGCAGCTAGGCGTGACCAAGTCAATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACTGACCCCAAAAGAGCCAAAAACTGTGCAAGTGGCCGGGCATGGTAGCTCACG
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AATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAGACAGTGTGGAGAGCTGTCTCTTCAAGGCCACAGTGAAGAAGACAGAGTCCACTTAAGTCCCTCCCTCAACATTCTCACCACAGCTGTAAATTGAACTCTGCTGCCCCAGGGTGCCCACAGCTGAAAGAGCTTCAGATTCAGGAAGGGCAGAAGAAACAAATTCCCAGCCTGTCTTCCACGTCAACAGGGCATGCTACAAGACAGCACTTCTTCCACATACAGAACATGCTCACAAAAGCCTTTGTCAAGGGGAGTATTTTAAATTACCACCATTATGGCACCTCCTCTAACCCCCATCAACCATTCCATCTGCATCAGCTGAAAAAATATGCACTCAAGGTTCCTCCTTGAGTCTATTAACAGGGATTTGCTATTTTTAACCCCTACTCTATTGTTTGATATTCCTGGCTAAGGAACAAGAGAAGAAATGAGAAGGTGGCTAGACAAAGCACTTACACTTGGCAGACAAATCAATTTCTCTTCCACCAAGAGAATGAGATTGCAAGATACAATTTACCTTGGTAGGAGGACAAAATCCTTGCCCTCACATAGATGACTTATTTAGTATGTTAGAATAGTACACCTTTAAATGAAAACTTAAATTACACAATACCAGTGCAGACTGAGAAATACAGTGTGAGAAAAGAATCTTTCTATTAATGTCTAACTCGCTGGATGTTACACTCACCCCAGGGCACATTTGTGTTTGCATGTGTATTTCTGAGTGTGTACATGAGAGATGGAATGTCTGCATACACGTCTGAATGAACAGATATTCCATCTAAATTCCCACATTACTACAAGTTGATGAATCAGTGTTGTCCTGCAAATGACAACATTTTAGTTCAAGTAATATTCTATGCTTTGGTACATTGAATTCACACATATTTACAGAACTCCTACCTACTGGCATTTGTCAGCATTTTGAAGGAGCATAGCACAGTGGAAAGAACACCGGCTTAGGAGTCAGAAGACCTGGGTTCAAGGACAGGCTGTGTTATTTACTGTCATTGGAATGTGGGACATCTGGAGGATGGAGAGAATCTGAGGCCTGCCTATCTCCTTCACAAGGGTTTTGCAAACAAAACAAGAGACTAGAAATGAGAGGTTTTTTTACAAACAAAAGTGTACCATCTGACCAGGCCCTAGACCTCACCACTCCCTCCTACCTTACCCTACACAGCTTTCCTGACTAGAACTGGACTCAATCACCAGCCTGCCCTGCAGAGAGTCATCAGACCTAAGAAGAGGTGCCTACCTCACTCACAGTTCTGTTAATGTTCAACATATGAATATGAGGACAAAATTAATTAAGCACATTTAACTCTCACTCTACTACATTATCCTCCTGGGTTATATGCTGAATATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCGTGGGCCAGGTAGGCCTGGCCACTGGCCACTGCCGCCTCCTTACCCTCCACAACGCCCACACCCACACTGCTCCGCCGCGTGTTCATCGGGGCCACAAAGAACCACTCGTTGGTCTTGTAGCTGTAGGCTTCCACCAATGCTAGGCCTGGGAGACAAGAGACTCATGAGACTTCCGTGGCACCAGGCCTCACCCTGCTGTGTGAGAAGCAGTGAGGATGGGGGAGGAGTCCAAATGCATGGGCTGGAAACCTAAATGTATGGCTCAGTACCACCTCTGCATCACCATGCGGCCTGTGGCAACTCCCTGAAACACATCTGCAGTGTCTGCCTGCAGGGACTATTAAGACTTGACTCAGAGAGTGGGCTGTGAAAGGACAAGGGGTGTGTCTGAAATGCATGGCAAATGTAGATCATAAAAACCGCAGAGTGGGATACTTTGATTCCAAGTAGTCACCTGAGGTAGCCTCACTGAACACCTATTCCAATCCCCTTTCCCCCAGCTTCCTCTATCTTAGCAGTGGAAAGCTAAACACTTGCTTCCCAAGACTCCCTTGCAGCTAGGCGTGACCAAGTCAATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACTGACCCCAAAAGAGCCAAAAACTGTGCAAGTGGCCGGGCATGGTAGCTCACG
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Task1_train_9514
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A variant on Chromosome 5 in gene KLHL3 (kelch like family member 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Pseudohypoaldosteronism type 2D
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CTCTCACTCTACTACATTATCCTCCTGGGTTATATGCTGAATATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCGTGGGCCAGGTAGGCCTGGCCACTGGCCACTGCCGCCTCCTTACCCTCCACAACGCCCACACCCACACTGCTCCGCCGCGTGTTCATCGGGGCCACAAAGAACCACTCGTTGGTCTTGTAGCTGTAGGCTTCCACCGATGCTAGGCCTGGGAGACAAGAGACTCATGAGACTTCCGTGGCACCAGGCCTCACCCTGCTGTGTGAGAAGCAGTGAGGATGGGGGAGGAGTCCAAATGCATGGGCTGGAAACCTAAATGTATGGCTCAGTACCACCTCTGCATCACCATGCGGCCTGTGGCAACTCCCTGAAACACATCTGCAGTGTCTGCCTGCAGGGACTATTAAGACTTGACTCAGAGAGTGGGCTGTGAAAGGACAAGGGGTGTGTCTGAAATGCATGGCAAATGTAGATCATAAAAACCGCAGAGTGGGATACTTTGATTCCAAGTAGTCACCTGAGGTAGCCTCACTGAACACCTATTCCAATCCCCTTTCCCCCAGCTTCCTCTATCTTAGCAGTGGAAAGCTAAACACTTGCTTCCCAAGACTCCCTTGCAGCTAGGCGTGACCAAGTCAATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACTGACCCCAAAAGAGCCAAAAACTGTGCAAGTGGCCGGGCATGGTAGCTCACGCCTGTAATTCCAGTACCTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAAAATGGTGAAACCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGTGAGAGAATCACTTGAACCCAGGAGGCAGACGTTGCAGTGAGCCGAGATCATGACACTGCACTCCAACCTGGGTGACAGAGAAAGACTCTGTCTTAAAACAACGACAACAACCAAAAAAAAAAAAAAAGTGTGCAGGAGGGAAACGAATGGGAGCCTGAAATGCACAGATGCTTGAGGAAACAAGGAGTAGCTCACGACTTCTGGCACGGAGTGGGGACCAGCAGGGGAAAAACAGCTTGCAGAACTGGGAGGCTGCTCACCTGCTCTGCATCTTCTGGAAGGAAGCTCAGCAATCTGATCCCACCGGTCCTCCTCGAAATCATAGCACTCCACACTGCGGATTGCCTTGGGTGCCTGGCCGCCAACCACAATCATGACCTCCGGAGAGACAAGTGGACGTTAGCGGGGTCACCCCAAAATCTGGATTTATGGTATCCCTGGTACTTCCACATGGCTTATCGCCCAGGGTGTGTGGATGATCTGAGATGCCAGTTTACAGAGCTACATACATGGGGATGCTGCTCCTGGTCACCAACAGGTATGAGTATTCAAGAAAAGTCTAACAAGCATCTTCCCACAGAAACACAGTCATAAGTTCTGTTTCCCAAATGCCCCACTCGGGGCTATCTTGTGGGTATGTGAAGCCGCACAGGGCATCATCTGTAATCTCAGTGCCCTCAGATTGGGAATGGGGGGTGCTAAATCTTATATCAAAACAAACTTGAATATACTTTGAAAAAGAGTTCAGAATTTGGACGTATGTTTTAAAGTATTACTCAAAAGCATTTCTGAATGCCTAGAATGTAGGGTGCACTTATGCACTGCAGTATAGAAAAAAATTGAAAAACTCCTGTGAGATGTTTATTACAAAAGTTATTAAACTGATGATGTTCTGGAAACTAGTGCTAGCAGTCCTATTTCCACAAGTAAGGTAGTAGCTACCACTGCTAGGTACCATGTGAAATGTGTTGTCATTTACTTGTCACCACAACTGTGAGGTAGATATCATCATCCACATTGACAGATAGCAAAGTAAAGCTCAGAGAACACATGTAAGTGGCCCAAGGTCACACAGCTAAGAGTGTAGGCAGAGACTGAAACCCAAGTCTACCTGACAGAGGGTGAGGCCAGCCACCCCCCCCAACTCCTGCTCTAGAGACAGGATCCAAGCAAACACAGCTTGCTGCATCTATGTTTGTCAAAACACAGGTCGCTTTCCATTAGTAGGTCATGAAATCAATTTAATGGATTATGACCAGCACATATATTTTTAAAAGCACAGAAAATATGATAAGAATATTATTTCATGAAATATTGGTTTTGGCTATACACACTTACATGTGTCTTCTGGATAGCAATTTAAATGCATTTTGTATTGCAAGGGCATGGTCAAACACAATGAAAACTACTGCTCTGGTTAGGTTAAT
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CTCTCACTCTACTACATTATCCTCCTGGGTTATATGCTGAATATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCGTGGGCCAGGTAGGCCTGGCCACTGGCCACTGCCGCCTCCTTACCCTCCACAACGCCCACACCCACACTGCTCCGCCGCGTGTTCATCGGGGCCACAAAGAACCACTCGTTGGTCTTGTAGCTGTAGGCTTCCACCGATGCTAGGCCTGGGAGACAAGAGACTCATGAGACTTCCGTGGCACCAGGCCTCACCCTGCTGTGTGAGAAGCAGTGAGGATGGGGGAGGAGTCCAAATGCATGGGCTGGAAACCTAAATGTATGGCTCAGTACCACCTCTGCATCACCATGCGGCCTGTGGCAACTCCCTGAAACACATCTGCAGTGTCTGCCTGCAGGGACTATTAAGACTTGACTCAGAGAGTGGGCTGTGAAAGGACAAGGGGTGTGTCTGAAATGCATGGCAAATGTAGATCATAAAAACCGCAGAGTGGGATACTTTGATTCCAAGTAGTCACCTGAGGTAGCCTCACTGAACACCTATTCCAATCCCCTTTCCCCCAGCTTCCTCTATCTTAGCAGTGGAAAGCTAAACACTTGCTTCCCAAGACTCCCTTGCAGCTAGGCGTGACCAAGTCAATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTACGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACTGACCCCAAAAGAGCCAAAAACTGTGCAAGTGGCCGGGCATGGTAGCTCACGCCTGTAATTCCAGTACCTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAAAATGGTGAAACCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGTGAGAGAATCACTTGAACCCAGGAGGCAGACGTTGCAGTGAGCCGAGATCATGACACTGCACTCCAACCTGGGTGACAGAGAAAGACTCTGTCTTAAAACAACGACAACAACCAAAAAAAAAAAAAAAGTGTGCAGGAGGGAAACGAATGGGAGCCTGAAATGCACAGATGCTTGAGGAAACAAGGAGTAGCTCACGACTTCTGGCACGGAGTGGGGACCAGCAGGGGAAAAACAGCTTGCAGAACTGGGAGGCTGCTCACCTGCTCTGCATCTTCTGGAAGGAAGCTCAGCAATCTGATCCCACCGGTCCTCCTCGAAATCATAGCACTCCACACTGCGGATTGCCTTGGGTGCCTGGCCGCCAACCACAATCATGACCTCCGGAGAGACAAGTGGACGTTAGCGGGGTCACCCCAAAATCTGGATTTATGGTATCCCTGGTACTTCCACATGGCTTATCGCCCAGGGTGTGTGGATGATCTGAGATGCCAGTTTACAGAGCTACATACATGGGGATGCTGCTCCTGGTCACCAACAGGTATGAGTATTCAAGAAAAGTCTAACAAGCATCTTCCCACAGAAACACAGTCATAAGTTCTGTTTCCCAAATGCCCCACTCGGGGCTATCTTGTGGGTATGTGAAGCCGCACAGGGCATCATCTGTAATCTCAGTGCCCTCAGATTGGGAATGGGGGGTGCTAAATCTTATATCAAAACAAACTTGAATATACTTTGAAAAAGAGTTCAGAATTTGGACGTATGTTTTAAAGTATTACTCAAAAGCATTTCTGAATGCCTAGAATGTAGGGTGCACTTATGCACTGCAGTATAGAAAAAAATTGAAAAACTCCTGTGAGATGTTTATTACAAAAGTTATTAAACTGATGATGTTCTGGAAACTAGTGCTAGCAGTCCTATTTCCACAAGTAAGGTAGTAGCTACCACTGCTAGGTACCATGTGAAATGTGTTGTCATTTACTTGTCACCACAACTGTGAGGTAGATATCATCATCCACATTGACAGATAGCAAAGTAAAGCTCAGAGAACACATGTAAGTGGCCCAAGGTCACACAGCTAAGAGTGTAGGCAGAGACTGAAACCCAAGTCTACCTGACAGAGGGTGAGGCCAGCCACCCCCCCCAACTCCTGCTCTAGAGACAGGATCCAAGCAAACACAGCTTGCTGCATCTATGTTTGTCAAAACACAGGTCGCTTTCCATTAGTAGGTCATGAAATCAATTTAATGGATTATGACCAGCACATATATTTTTAAAAGCACAGAAAATATGATAAGAATATTATTTCATGAAATATTGGTTTTGGCTATACACACTTACATGTGTCTTCTGGATAGCAATTTAAATGCATTTTGTATTGCAAGGGCATGGTCAAACACAATGAAAACTACTGCTCTGGTTAGGTTAAT
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Task1_train_9515
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This variant impacts the gene KLHL3 (kelch like family member 3) on Chromosome 5. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Pseudohypoaldosteronism type 2A
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ATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCGTGGGCCAGGTAGGCCTGGCCACTGGCCACTGCCGCCTCCTTACCCTCCACAACGCCCACACCCACACTGCTCCGCCGCGTGTTCATCGGGGCCACAAAGAACCACTCGTTGGTCTTGTAGCTGTAGGCTTCCACCGATGCTAGGCCTGGGAGACAAGAGACTCATGAGACTTCCGTGGCACCAGGCCTCACCCTGCTGTGTGAGAAGCAGTGAGGATGGGGGAGGAGTCCAAATGCATGGGCTGGAAACCTAAATGTATGGCTCAGTACCACCTCTGCATCACCATGCGGCCTGTGGCAACTCCCTGAAACACATCTGCAGTGTCTGCCTGCAGGGACTATTAAGACTTGACTCAGAGAGTGGGCTGTGAAAGGACAAGGGGTGTGTCTGAAATGCATGGCAAATGTAGATCATAAAAACCGCAGAGTGGGATACTTTGATTCCAAGTAGTCACCTGAGGTAGCCTCACTGAACACCTATTCCAATCCCCTTTCCCCCAGCTTCCTCTATCTTAGCAGTGGAAAGCTAAACACTTGCTTCCCAAGACTCCCTTGCAGCTAGGCGTGACCAAGTCAATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACTGACCCCAAAAGAGCCAAAAACTGTGCAAGTGGCCGGGCATGGTAGCTCACGCCTGTAATTCCAGTACCTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAAAATGGTGAAACCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGTGAGAGAATCACTTGAACCCAGGAGGCAGACGTTGCAGTGAGCCGAGATCATGACACTGCACTCCAACCTGGGTGACAGAGAAAGACTCTGTCTTAAAACAACGACAACAACCAAAAAAAAAAAAAAAGTGTGCAGGAGGGAAACGAATGGGAGCCTGAAATGCACAGATGCTTGAGGAAACAAGGAGTAGCTCACGACTTCTGGCACGGAGTGGGGACCAGCAGGGGAAAAACAGCTTGCAGAACTGGGAGGCTGCTCACCTGCTCTGCATCTTCTGGAAGGAAGCTCAGCAATCTGATCCCACCGGTCCTCCTCGAAATCATAGCACTCCACACTGCGGATTGCCTTGGGTGCCTGGCCGCCAACCACAATCATGACCTCCGGAGAGACAAGTGGACGTTAGCGGGGTCACCCCAAAATCTGGATTTATGGTATCCCTGGTACTTCCACATGGCTTATCGCCCAGGGTGTGTGGATGATCTGAGATGCCAGTTTACAGAGCTACATACATGGGGATGCTGCTCCTGGTCACCAACAGGTATGAGTATTCAAGAAAAGTCTAACAAGCATCTTCCCACAGAAACACAGTCATAAGTTCTGTTTCCCAAATGCCCCACTCGGGGCTATCTTGTGGGTATGTGAAGCCGCACAGGGCATCATCTGTAATCTCAGTGCCCTCAGATTGGGAATGGGGGGTGCTAAATCTTATATCAAAACAAACTTGAATATACTTTGAAAAAGAGTTCAGAATTTGGACGTATGTTTTAAAGTATTACTCAAAAGCATTTCTGAATGCCTAGAATGTAGGGTGCACTTATGCACTGCAGTATAGAAAAAAATTGAAAAACTCCTGTGAGATGTTTATTACAAAAGTTATTAAACTGATGATGTTCTGGAAACTAGTGCTAGCAGTCCTATTTCCACAAGTAAGGTAGTAGCTACCACTGCTAGGTACCATGTGAAATGTGTTGTCATTTACTTGTCACCACAACTGTGAGGTAGATATCATCATCCACATTGACAGATAGCAAAGTAAAGCTCAGAGAACACATGTAAGTGGCCCAAGGTCACACAGCTAAGAGTGTAGGCAGAGACTGAAACCCAAGTCTACCTGACAGAGGGTGAGGCCAGCCACCCCCCCCAACTCCTGCTCTAGAGACAGGATCCAAGCAAACACAGCTTGCTGCATCTATGTTTGTCAAAACACAGGTCGCTTTCCATTAGTAGGTCATGAAATCAATTTAATGGATTATGACCAGCACATATATTTTTAAAAGCACAGAAAATATGATAAGAATATTATTTCATGAAATATTGGTTTTGGCTATACACACTTACATGTGTCTTCTGGATAGCAATTTAAATGCATTTTGTATTGCAAGGGCATGGTCAAACACAATGAAAACTACTGCTCTGGTTAGGTTAATAGAACTGCAGTACTTAATTATGGTATCACTGCTGTGTCTTTG
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ATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCGTGGGCCAGGTAGGCCTGGCCACTGGCCACTGCCGCCTCCTTACCCTCCACAACGCCCACACCCACACTGCTCCGCCGCGTGTTCATCGGGGCCACAAAGAACCACTCGTTGGTCTTGTAGCTGTAGGCTTCCACCGATGCTAGGCCTGGGAGACAAGAGACTCATGAGACTTCCGTGGCACCAGGCCTCACCCTGCTGTGTGAGAAGCAGTGAGGATGGGGGAGGAGTCCAAATGCATGGGCTGGAAACCTAAATGTATGGCTCAGTACCACCTCTGCATCACCATGCGGCCTGTGGCAACTCCCTGAAACACATCTGCAGTGTCTGCCTGCAGGGACTATTAAGACTTGACTCAGAGAGTGGGCTGTGAAAGGACAAGGGGTGTGTCTGAAATGCATGGCAAATGTAGATCATAAAAACCGCAGAGTGGGATACTTTGATTCCAAGTAGTCACCTGAGGTAGCCTCACTGAACACCTATTCCAATCCCCTTTCCCCCAGCTTCCTCTATCTTAGCAGTGGAAAGCTAAACACTTGCTTCCCAAGACTCCCTTGCAGCTAGGCGTGACCAAGTCAATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCTGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACTGACCCCAAAAGAGCCAAAAACTGTGCAAGTGGCCGGGCATGGTAGCTCACGCCTGTAATTCCAGTACCTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAAAATGGTGAAACCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGTGAGAGAATCACTTGAACCCAGGAGGCAGACGTTGCAGTGAGCCGAGATCATGACACTGCACTCCAACCTGGGTGACAGAGAAAGACTCTGTCTTAAAACAACGACAACAACCAAAAAAAAAAAAAAAGTGTGCAGGAGGGAAACGAATGGGAGCCTGAAATGCACAGATGCTTGAGGAAACAAGGAGTAGCTCACGACTTCTGGCACGGAGTGGGGACCAGCAGGGGAAAAACAGCTTGCAGAACTGGGAGGCTGCTCACCTGCTCTGCATCTTCTGGAAGGAAGCTCAGCAATCTGATCCCACCGGTCCTCCTCGAAATCATAGCACTCCACACTGCGGATTGCCTTGGGTGCCTGGCCGCCAACCACAATCATGACCTCCGGAGAGACAAGTGGACGTTAGCGGGGTCACCCCAAAATCTGGATTTATGGTATCCCTGGTACTTCCACATGGCTTATCGCCCAGGGTGTGTGGATGATCTGAGATGCCAGTTTACAGAGCTACATACATGGGGATGCTGCTCCTGGTCACCAACAGGTATGAGTATTCAAGAAAAGTCTAACAAGCATCTTCCCACAGAAACACAGTCATAAGTTCTGTTTCCCAAATGCCCCACTCGGGGCTATCTTGTGGGTATGTGAAGCCGCACAGGGCATCATCTGTAATCTCAGTGCCCTCAGATTGGGAATGGGGGGTGCTAAATCTTATATCAAAACAAACTTGAATATACTTTGAAAAAGAGTTCAGAATTTGGACGTATGTTTTAAAGTATTACTCAAAAGCATTTCTGAATGCCTAGAATGTAGGGTGCACTTATGCACTGCAGTATAGAAAAAAATTGAAAAACTCCTGTGAGATGTTTATTACAAAAGTTATTAAACTGATGATGTTCTGGAAACTAGTGCTAGCAGTCCTATTTCCACAAGTAAGGTAGTAGCTACCACTGCTAGGTACCATGTGAAATGTGTTGTCATTTACTTGTCACCACAACTGTGAGGTAGATATCATCATCCACATTGACAGATAGCAAAGTAAAGCTCAGAGAACACATGTAAGTGGCCCAAGGTCACACAGCTAAGAGTGTAGGCAGAGACTGAAACCCAAGTCTACCTGACAGAGGGTGAGGCCAGCCACCCCCCCCAACTCCTGCTCTAGAGACAGGATCCAAGCAAACACAGCTTGCTGCATCTATGTTTGTCAAAACACAGGTCGCTTTCCATTAGTAGGTCATGAAATCAATTTAATGGATTATGACCAGCACATATATTTTTAAAAGCACAGAAAATATGATAAGAATATTATTTCATGAAATATTGGTTTTGGCTATACACACTTACATGTGTCTTCTGGATAGCAATTTAAATGCATTTTGTATTGCAAGGGCATGGTCAAACACAATGAAAACTACTGCTCTGGTTAGGTTAATAGAACTGCAGTACTTAATTATGGTATCACTGCTGTGTCTTTG
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Task1_train_9516
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Here is a variant affecting KLHL3 (kelch like family member 3) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Pseudohypoaldosteronism type 2D
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ATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACTGACCCCAAAAGAGCCAAAAACTGTGCAAGTGGCCGGGCATGGTAGCTCACGCCTGTAATTCCAGTACCTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAAAATGGTGAAACCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGTGAGAGAATCACTTGAACCCAGGAGGCAGACGTTGCAGTGAGCCGAGATCATGACACTGCACTCCAACCTGGGTGACAGAGAAAGACTCTGTCTTAAAACAACGACAACAACCAAAAAAAAAAAAAAAGTGTGCAGGAGGGAAACGAATGGGAGCCTGAAATGCACAGATGCTTGAGGAAACAAGGAGTAGCTCACGACTTCTGGCACGGAGTGGGGACCAGCAGGGGAAAAACAGCTTGCAGAACTGGGAGGCTGCTCACCTGCTCTGCATCTTCTGGAAGGAAGCTCAGCAATCTGATCCCACCGGTCCTCCTCGAAATCATAGCACTCCACACTGCGGATTGCCTTGGGTGCCTGGCCGCCAACCACAATCATGACCTCCGGAGAGACAAGTGGACGTTAGCGGGGTCACCCCAAAATCTGGATTTATGGTATCCCTGGTACTTCCACATGGCTTATCGCCCAGGGTGTGTGGATGATCTGAGATGCCAGTTTACAGAGCTACATACATGGGGATGCTGCTCCTGGTCACCAACAGGTATGAGTATTCAAGAAAAGTCTAACAAGCATCTTCCCACAGAAACACAGTCATAAGTTCTGTTTCCCAAATGCCCCACTCGGGGCTATCTTGTGGGTATGTGAAGCCGCACAGGGCATCATCTGTAATCTCAGTGCCCTCAGATTGGGAATGGGGGGTGCTAAATCTTATATCAAAACAAACTTGAATATACTTTGAAAAAGAGTTCAGAATTTGGACGTATGTTTTAAAGTATTACTCAAAAGCATTTCTGAATGCCTAGAATGTAGGGTGCACTTATGCACTGCAGTATAGAAAAAAATTGAAAAACTCCTGTGAGATGTTTATTACAAAAGTTATTAAACTGATGATGTTCTGGAAACTAGTGCTAGCAGTCCTATTTCCACAAGTAAGGTAGTAGCTACCACTGCTAGGTACCATGTGAAATGTGTTGTCATTTACTTGTCACCACAACTGTGAGGTAGATATCATCATCCACATTGACAGATAGCAAAGTAAAGCTCAGAGAACACATGTAAGTGGCCCAAGGTCACACAGCTAAGAGTGTAGGCAGAGACTGAAACCCAAGTCTACCTGACAGAGGGTGAGGCCAGCCACCCCCCCCAACTCCTGCTCTAGAGACAGGATCCAAGCAAACACAGCTTGCTGCATCTATGTTTGTCAAAACACAGGTCGCTTTCCATTAGTAGGTCATGAAATCAATTTAATGGATTATGACCAGCACATATATTTTTAAAAGCACAGAAAATATGATAAGAATATTATTTCATGAAATATTGGTTTTGGCTATACACACTTACATGTGTCTTCTGGATAGCAATTTAAATGCATTTTGTATTGCAAGGGCATGGTCAAACACAATGAAAACTACTGCTCTGGTTAGGTTAATAGAACTGCAGTACTTAATTATGGTATCACTGCTGTGTCTTTGGTCACATGTTATTAATAAATAAAAAATTAAAGTACCAGTTACCTATAGTTTACATATTTTAATAAACATGTACAAATTCATAGCTGTCCCCACAATGATGTCACTCTCACTCAACGGCATTCCAATATGCTTTCTTGAGTGGAGAGAAAGGGTGGAAGTCACAACCAGCAAATTCATTTGATCATTACCTGTAGCTTGTCTTATTTACCCAGTGGTTCTCAAACTTGAGCATACATCAGAATCACCTAGAGGACTTGTGAAAACACAAGCTGCTGGGCCCTATCCCCAGAGTGTGATTCAGTGGATCTGGAGTGGAGCCCAGAGGCTGCCTTTCTAACAAGTTCCCAGGTGCTGCTGCTGCTGCCACTCTAGGGTTCATACTTTGAGAACCACCTTTTTAATCCATGCTCTGTATGGATTTCCTGATGATATGCCATGAACAACTTTTGCCATTATGAATTATCATAGTGCTTTTTACTTCCCCATGATGTATTTTTGGGGAGAGAAGTGCCCATCAAAATCTGTGTGAACTCGCAAAGGCACATCCCTCAAGTGAACACTTCCCACCATACGGGAGGCAAAACCAGAGCTCACCACCATTACTACAGATCAACCATTTATTCCCCAATATTCCAGAACAGGCTCACCCACTGCCATGTGGGTGGTCACTGGTCATCAGACTTAGTCCATAGCTGTCTGTCACCAAAAGTGGGTAACCAGTGTTCAAAAATTCAGAAATCAGTTCTGACTTCTAAAGCATTCCAAAGGAACCCAGGACACAAAACCCAGCCTCGAGCTGCTGCTGCTGCTGCTTCCAGACAGAAACTTGACTTTCCTGGGTGCCTCAGCTCAG
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ATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACTGACCCCAAAAGAGCCAAAAACTGTGCAAGTGGCCGGGCATGGTAGCTCACGCCTGTAATTCCAGTACCTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAAAATGGTGAAACCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGTGAGAGAATCACTTGAACCCAGGAGGCAGACGTTGCAGTGAGCCGAGATCATGACACTGCACTCCAACCTGGGTGACAGAGAAAGACTCTGTCTTAAAACAACGACAACAACCAAAAAAAAAAAAAAAGTGTGCAGGAGGGAAACGAATGGGAGCCTGAAATGCACAGATGCTTGAGGAAACAAGGAGTAGCTCACGACTTCTGGCACGGAGTGGGGACCAGCAGGGGAAAAACAGCTTGCAGAACTGGGAGGCTGCTCACCTGCTCTGCATCTTATGGAAGGAAGCTCAGCAATCTGATCCCACCGGTCCTCCTCGAAATCATAGCACTCCACACTGCGGATTGCCTTGGGTGCCTGGCCGCCAACCACAATCATGACCTCCGGAGAGACAAGTGGACGTTAGCGGGGTCACCCCAAAATCTGGATTTATGGTATCCCTGGTACTTCCACATGGCTTATCGCCCAGGGTGTGTGGATGATCTGAGATGCCAGTTTACAGAGCTACATACATGGGGATGCTGCTCCTGGTCACCAACAGGTATGAGTATTCAAGAAAAGTCTAACAAGCATCTTCCCACAGAAACACAGTCATAAGTTCTGTTTCCCAAATGCCCCACTCGGGGCTATCTTGTGGGTATGTGAAGCCGCACAGGGCATCATCTGTAATCTCAGTGCCCTCAGATTGGGAATGGGGGGTGCTAAATCTTATATCAAAACAAACTTGAATATACTTTGAAAAAGAGTTCAGAATTTGGACGTATGTTTTAAAGTATTACTCAAAAGCATTTCTGAATGCCTAGAATGTAGGGTGCACTTATGCACTGCAGTATAGAAAAAAATTGAAAAACTCCTGTGAGATGTTTATTACAAAAGTTATTAAACTGATGATGTTCTGGAAACTAGTGCTAGCAGTCCTATTTCCACAAGTAAGGTAGTAGCTACCACTGCTAGGTACCATGTGAAATGTGTTGTCATTTACTTGTCACCACAACTGTGAGGTAGATATCATCATCCACATTGACAGATAGCAAAGTAAAGCTCAGAGAACACATGTAAGTGGCCCAAGGTCACACAGCTAAGAGTGTAGGCAGAGACTGAAACCCAAGTCTACCTGACAGAGGGTGAGGCCAGCCACCCCCCCCAACTCCTGCTCTAGAGACAGGATCCAAGCAAACACAGCTTGCTGCATCTATGTTTGTCAAAACACAGGTCGCTTTCCATTAGTAGGTCATGAAATCAATTTAATGGATTATGACCAGCACATATATTTTTAAAAGCACAGAAAATATGATAAGAATATTATTTCATGAAATATTGGTTTTGGCTATACACACTTACATGTGTCTTCTGGATAGCAATTTAAATGCATTTTGTATTGCAAGGGCATGGTCAAACACAATGAAAACTACTGCTCTGGTTAGGTTAATAGAACTGCAGTACTTAATTATGGTATCACTGCTGTGTCTTTGGTCACATGTTATTAATAAATAAAAAATTAAAGTACCAGTTACCTATAGTTTACATATTTTAATAAACATGTACAAATTCATAGCTGTCCCCACAATGATGTCACTCTCACTCAACGGCATTCCAATATGCTTTCTTGAGTGGAGAGAAAGGGTGGAAGTCACAACCAGCAAATTCATTTGATCATTACCTGTAGCTTGTCTTATTTACCCAGTGGTTCTCAAACTTGAGCATACATCAGAATCACCTAGAGGACTTGTGAAAACACAAGCTGCTGGGCCCTATCCCCAGAGTGTGATTCAGTGGATCTGGAGTGGAGCCCAGAGGCTGCCTTTCTAACAAGTTCCCAGGTGCTGCTGCTGCTGCCACTCTAGGGTTCATACTTTGAGAACCACCTTTTTAATCCATGCTCTGTATGGATTTCCTGATGATATGCCATGAACAACTTTTGCCATTATGAATTATCATAGTGCTTTTTACTTCCCCATGATGTATTTTTGGGGAGAGAAGTGCCCATCAAAATCTGTGTGAACTCGCAAAGGCACATCCCTCAAGTGAACACTTCCCACCATACGGGAGGCAAAACCAGAGCTCACCACCATTACTACAGATCAACCATTTATTCCCCAATATTCCAGAACAGGCTCACCCACTGCCATGTGGGTGGTCACTGGTCATCAGACTTAGTCCATAGCTGTCTGTCACCAAAAGTGGGTAACCAGTGTTCAAAAATTCAGAAATCAGTTCTGACTTCTAAAGCATTCCAAAGGAACCCAGGACACAAAACCCAGCCTCGAGCTGCTGCTGCTGCTGCTTCCAGACAGAAACTTGACTTTCCTGGGTGCCTCAGCTCAG
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Task1_train_9517
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The gene KLHL3 (kelch like family member 3), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Pseudohypoaldosteronism type 2A
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TTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACTGACCCCAAAAGAGCCAAAAACTGTGCAAGTGGCCGGGCATGGTAGCTCACGCCTGTAATTCCAGTACCTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAAAATGGTGAAACCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGTGAGAGAATCACTTGAACCCAGGAGGCAGACGTTGCAGTGAGCCGAGATCATGACACTGCACTCCAACCTGGGTGACAGAGAAAGACTCTGTCTTAAAACAACGACAACAACCAAAAAAAAAAAAAAAGTGTGCAGGAGGGAAACGAATGGGAGCCTGAAATGCACAGATGCTTGAGGAAACAAGGAGTAGCTCACGACTTCTGGCACGGAGTGGGGACCAGCAGGGGAAAAACAGCTTGCAGAACTGGGAGGCTGCTCACCTGCTCTGCATCTTCTGGAAGGAAGCTCAGCAATCTGATCCCACCGGTCCTCCTCGAAATCATAGCACTCCACACTGCGGATTGCCTTGGGTGCCTGGCCGCCAACCACAATCATGACCTCCGGAGAGACAAGTGGACGTTAGCGGGGTCACCCCAAAATCTGGATTTATGGTATCCCTGGTACTTCCACATGGCTTATCGCCCAGGGTGTGTGGATGATCTGAGATGCCAGTTTACAGAGCTACATACATGGGGATGCTGCTCCTGGTCACCAACAGGTATGAGTATTCAAGAAAAGTCTAACAAGCATCTTCCCACAGAAACACAGTCATAAGTTCTGTTTCCCAAATGCCCCACTCGGGGCTATCTTGTGGGTATGTGAAGCCGCACAGGGCATCATCTGTAATCTCAGTGCCCTCAGATTGGGAATGGGGGGTGCTAAATCTTATATCAAAACAAACTTGAATATACTTTGAAAAAGAGTTCAGAATTTGGACGTATGTTTTAAAGTATTACTCAAAAGCATTTCTGAATGCCTAGAATGTAGGGTGCACTTATGCACTGCAGTATAGAAAAAAATTGAAAAACTCCTGTGAGATGTTTATTACAAAAGTTATTAAACTGATGATGTTCTGGAAACTAGTGCTAGCAGTCCTATTTCCACAAGTAAGGTAGTAGCTACCACTGCTAGGTACCATGTGAAATGTGTTGTCATTTACTTGTCACCACAACTGTGAGGTAGATATCATCATCCACATTGACAGATAGCAAAGTAAAGCTCAGAGAACACATGTAAGTGGCCCAAGGTCACACAGCTAAGAGTGTAGGCAGAGACTGAAACCCAAGTCTACCTGACAGAGGGTGAGGCCAGCCACCCCCCCCAACTCCTGCTCTAGAGACAGGATCCAAGCAAACACAGCTTGCTGCATCTATGTTTGTCAAAACACAGGTCGCTTTCCATTAGTAGGTCATGAAATCAATTTAATGGATTATGACCAGCACATATATTTTTAAAAGCACAGAAAATATGATAAGAATATTATTTCATGAAATATTGGTTTTGGCTATACACACTTACATGTGTCTTCTGGATAGCAATTTAAATGCATTTTGTATTGCAAGGGCATGGTCAAACACAATGAAAACTACTGCTCTGGTTAGGTTAATAGAACTGCAGTACTTAATTATGGTATCACTGCTGTGTCTTTGGTCACATGTTATTAATAAATAAAAAATTAAAGTACCAGTTACCTATAGTTTACATATTTTAATAAACATGTACAAATTCATAGCTGTCCCCACAATGATGTCACTCTCACTCAACGGCATTCCAATATGCTTTCTTGAGTGGAGAGAAAGGGTGGAAGTCACAACCAGCAAATTCATTTGATCATTACCTGTAGCTTGTCTTATTTACCCAGTGGTTCTCAAACTTGAGCATACATCAGAATCACCTAGAGGACTTGTGAAAACACAAGCTGCTGGGCCCTATCCCCAGAGTGTGATTCAGTGGATCTGGAGTGGAGCCCAGAGGCTGCCTTTCTAACAAGTTCCCAGGTGCTGCTGCTGCTGCCACTCTAGGGTTCATACTTTGAGAACCACCTTTTTAATCCATGCTCTGTATGGATTTCCTGATGATATGCCATGAACAACTTTTGCCATTATGAATTATCATAGTGCTTTTTACTTCCCCATGATGTATTTTTGGGGAGAGAAGTGCCCATCAAAATCTGTGTGAACTCGCAAAGGCACATCCCTCAAGTGAACACTTCCCACCATACGGGAGGCAAAACCAGAGCTCACCACCATTACTACAGATCAACCATTTATTCCCCAATATTCCAGAACAGGCTCACCCACTGCCATGTGGGTGGTCACTGGTCATCAGACTTAGTCCATAGCTGTCTGTCACCAAAAGTGGGTAACCAGTGTTCAAAAATTCAGAAATCAGTTCTGACTTCTAAAGCATTCCAAAGGAACCCAGGACACAAAACCCAGCCTCGAGCTGCTGCTGCTGCTGCTTCCAGACAGAAACTTGACTTTCCTGGGTGCCTCAGCTCAGAGGGTCCACTGCTCTGTGTCAAGAGTAGCCTTTTTCAGAGTA
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TTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACTGACCCCAAAAGAGCCAAAAACTGTGCAAGTGGCCGGGCATGGTAGCTCACGCCTGTAATTCCAGTACCTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAAAATGGTGAAACCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGTGAGAGAATCACTTGAACCCAGGAGGCAGACGTTGCAGTGAGCCGAGATCATGACACTGCACTCCAACCTGGGTGACAGAGAAAGACTCTGTCTTAAAACAACGACAACAACCAAAAAAAAAAAAAAAGTGTGCAGGAGGGAAACGAATGGGAGCCTGAAATGCACAGATGCTTGAGGAAACAAGGAGTAGCTCACGACTTCTGGCACGGAGTGGGGACCAGCAGGGGAAAAACAGCTTGCAGAACTGGGAGGCTGCTCACCTGCTCTGCATCTTCTGGAAGGAAGCTCAGCAATCTGATCCCACCGGTCCTCCTCGCAATCATAGCACTCCACACTGCGGATTGCCTTGGGTGCCTGGCCGCCAACCACAATCATGACCTCCGGAGAGACAAGTGGACGTTAGCGGGGTCACCCCAAAATCTGGATTTATGGTATCCCTGGTACTTCCACATGGCTTATCGCCCAGGGTGTGTGGATGATCTGAGATGCCAGTTTACAGAGCTACATACATGGGGATGCTGCTCCTGGTCACCAACAGGTATGAGTATTCAAGAAAAGTCTAACAAGCATCTTCCCACAGAAACACAGTCATAAGTTCTGTTTCCCAAATGCCCCACTCGGGGCTATCTTGTGGGTATGTGAAGCCGCACAGGGCATCATCTGTAATCTCAGTGCCCTCAGATTGGGAATGGGGGGTGCTAAATCTTATATCAAAACAAACTTGAATATACTTTGAAAAAGAGTTCAGAATTTGGACGTATGTTTTAAAGTATTACTCAAAAGCATTTCTGAATGCCTAGAATGTAGGGTGCACTTATGCACTGCAGTATAGAAAAAAATTGAAAAACTCCTGTGAGATGTTTATTACAAAAGTTATTAAACTGATGATGTTCTGGAAACTAGTGCTAGCAGTCCTATTTCCACAAGTAAGGTAGTAGCTACCACTGCTAGGTACCATGTGAAATGTGTTGTCATTTACTTGTCACCACAACTGTGAGGTAGATATCATCATCCACATTGACAGATAGCAAAGTAAAGCTCAGAGAACACATGTAAGTGGCCCAAGGTCACACAGCTAAGAGTGTAGGCAGAGACTGAAACCCAAGTCTACCTGACAGAGGGTGAGGCCAGCCACCCCCCCCAACTCCTGCTCTAGAGACAGGATCCAAGCAAACACAGCTTGCTGCATCTATGTTTGTCAAAACACAGGTCGCTTTCCATTAGTAGGTCATGAAATCAATTTAATGGATTATGACCAGCACATATATTTTTAAAAGCACAGAAAATATGATAAGAATATTATTTCATGAAATATTGGTTTTGGCTATACACACTTACATGTGTCTTCTGGATAGCAATTTAAATGCATTTTGTATTGCAAGGGCATGGTCAAACACAATGAAAACTACTGCTCTGGTTAGGTTAATAGAACTGCAGTACTTAATTATGGTATCACTGCTGTGTCTTTGGTCACATGTTATTAATAAATAAAAAATTAAAGTACCAGTTACCTATAGTTTACATATTTTAATAAACATGTACAAATTCATAGCTGTCCCCACAATGATGTCACTCTCACTCAACGGCATTCCAATATGCTTTCTTGAGTGGAGAGAAAGGGTGGAAGTCACAACCAGCAAATTCATTTGATCATTACCTGTAGCTTGTCTTATTTACCCAGTGGTTCTCAAACTTGAGCATACATCAGAATCACCTAGAGGACTTGTGAAAACACAAGCTGCTGGGCCCTATCCCCAGAGTGTGATTCAGTGGATCTGGAGTGGAGCCCAGAGGCTGCCTTTCTAACAAGTTCCCAGGTGCTGCTGCTGCTGCCACTCTAGGGTTCATACTTTGAGAACCACCTTTTTAATCCATGCTCTGTATGGATTTCCTGATGATATGCCATGAACAACTTTTGCCATTATGAATTATCATAGTGCTTTTTACTTCCCCATGATGTATTTTTGGGGAGAGAAGTGCCCATCAAAATCTGTGTGAACTCGCAAAGGCACATCCCTCAAGTGAACACTTCCCACCATACGGGAGGCAAAACCAGAGCTCACCACCATTACTACAGATCAACCATTTATTCCCCAATATTCCAGAACAGGCTCACCCACTGCCATGTGGGTGGTCACTGGTCATCAGACTTAGTCCATAGCTGTCTGTCACCAAAAGTGGGTAACCAGTGTTCAAAAATTCAGAAATCAGTTCTGACTTCTAAAGCATTCCAAAGGAACCCAGGACACAAAACCCAGCCTCGAGCTGCTGCTGCTGCTGCTTCCAGACAGAAACTTGACTTTCCTGGGTGCCTCAGCTCAGAGGGTCCACTGCTCTGTGTCAAGAGTAGCCTTTTTCAGAGTA
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Task1_train_9518
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A variant has been detected on Chromosome 5 in KLHL3 (kelch like family member 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Pseudohypoaldosteronism type 2D
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TTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACTGACCCCAAAAGAGCCAAAAACTGTGCAAGTGGCCGGGCATGGTAGCTCACGCCTGTAATTCCAGTACCTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAAAATGGTGAAACCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGTGAGAGAATCACTTGAACCCAGGAGGCAGACGTTGCAGTGAGCCGAGATCATGACACTGCACTCCAACCTGGGTGACAGAGAAAGACTCTGTCTTAAAACAACGACAACAACCAAAAAAAAAAAAAAAGTGTGCAGGAGGGAAACGAATGGGAGCCTGAAATGCACAGATGCTTGAGGAAACAAGGAGTAGCTCACGACTTCTGGCACGGAGTGGGGACCAGCAGGGGAAAAACAGCTTGCAGAACTGGGAGGCTGCTCACCTGCTCTGCATCTTCTGGAAGGAAGCTCAGCAATCTGATCCCACCGGTCCTCCTCGAAATCATAGCACTCCACACTGCGGATTGCCTTGGGTGCCTGGCCGCCAACCACAATCATGACCTCCGGAGAGACAAGTGGACGTTAGCGGGGTCACCCCAAAATCTGGATTTATGGTATCCCTGGTACTTCCACATGGCTTATCGCCCAGGGTGTGTGGATGATCTGAGATGCCAGTTTACAGAGCTACATACATGGGGATGCTGCTCCTGGTCACCAACAGGTATGAGTATTCAAGAAAAGTCTAACAAGCATCTTCCCACAGAAACACAGTCATAAGTTCTGTTTCCCAAATGCCCCACTCGGGGCTATCTTGTGGGTATGTGAAGCCGCACAGGGCATCATCTGTAATCTCAGTGCCCTCAGATTGGGAATGGGGGGTGCTAAATCTTATATCAAAACAAACTTGAATATACTTTGAAAAAGAGTTCAGAATTTGGACGTATGTTTTAAAGTATTACTCAAAAGCATTTCTGAATGCCTAGAATGTAGGGTGCACTTATGCACTGCAGTATAGAAAAAAATTGAAAAACTCCTGTGAGATGTTTATTACAAAAGTTATTAAACTGATGATGTTCTGGAAACTAGTGCTAGCAGTCCTATTTCCACAAGTAAGGTAGTAGCTACCACTGCTAGGTACCATGTGAAATGTGTTGTCATTTACTTGTCACCACAACTGTGAGGTAGATATCATCATCCACATTGACAGATAGCAAAGTAAAGCTCAGAGAACACATGTAAGTGGCCCAAGGTCACACAGCTAAGAGTGTAGGCAGAGACTGAAACCCAAGTCTACCTGACAGAGGGTGAGGCCAGCCACCCCCCCCAACTCCTGCTCTAGAGACAGGATCCAAGCAAACACAGCTTGCTGCATCTATGTTTGTCAAAACACAGGTCGCTTTCCATTAGTAGGTCATGAAATCAATTTAATGGATTATGACCAGCACATATATTTTTAAAAGCACAGAAAATATGATAAGAATATTATTTCATGAAATATTGGTTTTGGCTATACACACTTACATGTGTCTTCTGGATAGCAATTTAAATGCATTTTGTATTGCAAGGGCATGGTCAAACACAATGAAAACTACTGCTCTGGTTAGGTTAATAGAACTGCAGTACTTAATTATGGTATCACTGCTGTGTCTTTGGTCACATGTTATTAATAAATAAAAAATTAAAGTACCAGTTACCTATAGTTTACATATTTTAATAAACATGTACAAATTCATAGCTGTCCCCACAATGATGTCACTCTCACTCAACGGCATTCCAATATGCTTTCTTGAGTGGAGAGAAAGGGTGGAAGTCACAACCAGCAAATTCATTTGATCATTACCTGTAGCTTGTCTTATTTACCCAGTGGTTCTCAAACTTGAGCATACATCAGAATCACCTAGAGGACTTGTGAAAACACAAGCTGCTGGGCCCTATCCCCAGAGTGTGATTCAGTGGATCTGGAGTGGAGCCCAGAGGCTGCCTTTCTAACAAGTTCCCAGGTGCTGCTGCTGCTGCCACTCTAGGGTTCATACTTTGAGAACCACCTTTTTAATCCATGCTCTGTATGGATTTCCTGATGATATGCCATGAACAACTTTTGCCATTATGAATTATCATAGTGCTTTTTACTTCCCCATGATGTATTTTTGGGGAGAGAAGTGCCCATCAAAATCTGTGTGAACTCGCAAAGGCACATCCCTCAAGTGAACACTTCCCACCATACGGGAGGCAAAACCAGAGCTCACCACCATTACTACAGATCAACCATTTATTCCCCAATATTCCAGAACAGGCTCACCCACTGCCATGTGGGTGGTCACTGGTCATCAGACTTAGTCCATAGCTGTCTGTCACCAAAAGTGGGTAACCAGTGTTCAAAAATTCAGAAATCAGTTCTGACTTCTAAAGCATTCCAAAGGAACCCAGGACACAAAACCCAGCCTCGAGCTGCTGCTGCTGCTGCTTCCAGACAGAAACTTGACTTTCCTGGGTGCCTCAGCTCAGAGGGTCCACTGCTCTGTGTCAAGAGTAGCCTTTTTCAGAGTA
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TTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACTGACCCCAAAAGAGCCAAAAACTGTGCAAGTGGCCGGGCATGGTAGCTCACGCCTGTAATTCCAGTACCTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAAAATGGTGAAACCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGTGAGAGAATCACTTGAACCCAGGAGGCAGACGTTGCAGTGAGCCGAGATCATGACACTGCACTCCAACCTGGGTGACAGAGAAAGACTCTGTCTTAAAACAACGACAACAACCAAAAAAAAAAAAAAAGTGTGCAGGAGGGAAACGAATGGGAGCCTGAAATGCACAGATGCTTGAGGAAACAAGGAGTAGCTCACGACTTCTGGCACGGAGTGGGGACCAGCAGGGGAAAAACAGCTTGCAGAACTGGGAGGCTGCTCACCTGCTCTGCATCTTCTGGAAGGAAGCTCAGCAATCTGATCCCACCGGTCCTCCTCGCAATCATAGCACTCCACACTGCGGATTGCCTTGGGTGCCTGGCCGCCAACCACAATCATGACCTCCGGAGAGACAAGTGGACGTTAGCGGGGTCACCCCAAAATCTGGATTTATGGTATCCCTGGTACTTCCACATGGCTTATCGCCCAGGGTGTGTGGATGATCTGAGATGCCAGTTTACAGAGCTACATACATGGGGATGCTGCTCCTGGTCACCAACAGGTATGAGTATTCAAGAAAAGTCTAACAAGCATCTTCCCACAGAAACACAGTCATAAGTTCTGTTTCCCAAATGCCCCACTCGGGGCTATCTTGTGGGTATGTGAAGCCGCACAGGGCATCATCTGTAATCTCAGTGCCCTCAGATTGGGAATGGGGGGTGCTAAATCTTATATCAAAACAAACTTGAATATACTTTGAAAAAGAGTTCAGAATTTGGACGTATGTTTTAAAGTATTACTCAAAAGCATTTCTGAATGCCTAGAATGTAGGGTGCACTTATGCACTGCAGTATAGAAAAAAATTGAAAAACTCCTGTGAGATGTTTATTACAAAAGTTATTAAACTGATGATGTTCTGGAAACTAGTGCTAGCAGTCCTATTTCCACAAGTAAGGTAGTAGCTACCACTGCTAGGTACCATGTGAAATGTGTTGTCATTTACTTGTCACCACAACTGTGAGGTAGATATCATCATCCACATTGACAGATAGCAAAGTAAAGCTCAGAGAACACATGTAAGTGGCCCAAGGTCACACAGCTAAGAGTGTAGGCAGAGACTGAAACCCAAGTCTACCTGACAGAGGGTGAGGCCAGCCACCCCCCCCAACTCCTGCTCTAGAGACAGGATCCAAGCAAACACAGCTTGCTGCATCTATGTTTGTCAAAACACAGGTCGCTTTCCATTAGTAGGTCATGAAATCAATTTAATGGATTATGACCAGCACATATATTTTTAAAAGCACAGAAAATATGATAAGAATATTATTTCATGAAATATTGGTTTTGGCTATACACACTTACATGTGTCTTCTGGATAGCAATTTAAATGCATTTTGTATTGCAAGGGCATGGTCAAACACAATGAAAACTACTGCTCTGGTTAGGTTAATAGAACTGCAGTACTTAATTATGGTATCACTGCTGTGTCTTTGGTCACATGTTATTAATAAATAAAAAATTAAAGTACCAGTTACCTATAGTTTACATATTTTAATAAACATGTACAAATTCATAGCTGTCCCCACAATGATGTCACTCTCACTCAACGGCATTCCAATATGCTTTCTTGAGTGGAGAGAAAGGGTGGAAGTCACAACCAGCAAATTCATTTGATCATTACCTGTAGCTTGTCTTATTTACCCAGTGGTTCTCAAACTTGAGCATACATCAGAATCACCTAGAGGACTTGTGAAAACACAAGCTGCTGGGCCCTATCCCCAGAGTGTGATTCAGTGGATCTGGAGTGGAGCCCAGAGGCTGCCTTTCTAACAAGTTCCCAGGTGCTGCTGCTGCTGCCACTCTAGGGTTCATACTTTGAGAACCACCTTTTTAATCCATGCTCTGTATGGATTTCCTGATGATATGCCATGAACAACTTTTGCCATTATGAATTATCATAGTGCTTTTTACTTCCCCATGATGTATTTTTGGGGAGAGAAGTGCCCATCAAAATCTGTGTGAACTCGCAAAGGCACATCCCTCAAGTGAACACTTCCCACCATACGGGAGGCAAAACCAGAGCTCACCACCATTACTACAGATCAACCATTTATTCCCCAATATTCCAGAACAGGCTCACCCACTGCCATGTGGGTGGTCACTGGTCATCAGACTTAGTCCATAGCTGTCTGTCACCAAAAGTGGGTAACCAGTGTTCAAAAATTCAGAAATCAGTTCTGACTTCTAAAGCATTCCAAAGGAACCCAGGACACAAAACCCAGCCTCGAGCTGCTGCTGCTGCTGCTTCCAGACAGAAACTTGACTTTCCTGGGTGCCTCAGCTCAGAGGGTCCACTGCTCTGTGTCAAGAGTAGCCTTTTTCAGAGTA
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Task1_train_9519
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This variant affects gene KLHL3 (kelch like family member 3) located on Chromosome 5. Evaluate its biological effect and specify any disease association.
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Pathogenic; not provided
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CTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACTGACCCCAAAAGAGCCAAAAACTGTGCAAGTGGCCGGGCATGGTAGCTCACGCCTGTAATTCCAGTACCTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAAAATGGTGAAACCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGTGAGAGAATCACTTGAACCCAGGAGGCAGACGTTGCAGTGAGCCGAGATCATGACACTGCACTCCAACCTGGGTGACAGAGAAAGACTCTGTCTTAAAACAACGACAACAACCAAAAAAAAAAAAAAAGTGTGCAGGAGGGAAACGAATGGGAGCCTGAAATGCACAGATGCTTGAGGAAACAAGGAGTAGCTCACGACTTCTGGCACGGAGTGGGGACCAGCAGGGGAAAAACAGCTTGCAGAACTGGGAGGCTGCTCACCTGCTCTGCATCTTCTGGAAGGAAGCTCAGCAATCTGATCCCACCGGTCCTCCTCGAAATCATAGCACTCCACACTGCGGATTGCCTTGGGTGCCTGGCCGCCAACCACAATCATGACCTCCGGAGAGACAAGTGGACGTTAGCGGGGTCACCCCAAAATCTGGATTTATGGTATCCCTGGTACTTCCACATGGCTTATCGCCCAGGGTGTGTGGATGATCTGAGATGCCAGTTTACAGAGCTACATACATGGGGATGCTGCTCCTGGTCACCAACAGGTATGAGTATTCAAGAAAAGTCTAACAAGCATCTTCCCACAGAAACACAGTCATAAGTTCTGTTTCCCAAATGCCCCACTCGGGGCTATCTTGTGGGTATGTGAAGCCGCACAGGGCATCATCTGTAATCTCAGTGCCCTCAGATTGGGAATGGGGGGTGCTAAATCTTATATCAAAACAAACTTGAATATACTTTGAAAAAGAGTTCAGAATTTGGACGTATGTTTTAAAGTATTACTCAAAAGCATTTCTGAATGCCTAGAATGTAGGGTGCACTTATGCACTGCAGTATAGAAAAAAATTGAAAAACTCCTGTGAGATGTTTATTACAAAAGTTATTAAACTGATGATGTTCTGGAAACTAGTGCTAGCAGTCCTATTTCCACAAGTAAGGTAGTAGCTACCACTGCTAGGTACCATGTGAAATGTGTTGTCATTTACTTGTCACCACAACTGTGAGGTAGATATCATCATCCACATTGACAGATAGCAAAGTAAAGCTCAGAGAACACATGTAAGTGGCCCAAGGTCACACAGCTAAGAGTGTAGGCAGAGACTGAAACCCAAGTCTACCTGACAGAGGGTGAGGCCAGCCACCCCCCCCAACTCCTGCTCTAGAGACAGGATCCAAGCAAACACAGCTTGCTGCATCTATGTTTGTCAAAACACAGGTCGCTTTCCATTAGTAGGTCATGAAATCAATTTAATGGATTATGACCAGCACATATATTTTTAAAAGCACAGAAAATATGATAAGAATATTATTTCATGAAATATTGGTTTTGGCTATACACACTTACATGTGTCTTCTGGATAGCAATTTAAATGCATTTTGTATTGCAAGGGCATGGTCAAACACAATGAAAACTACTGCTCTGGTTAGGTTAATAGAACTGCAGTACTTAATTATGGTATCACTGCTGTGTCTTTGGTCACATGTTATTAATAAATAAAAAATTAAAGTACCAGTTACCTATAGTTTACATATTTTAATAAACATGTACAAATTCATAGCTGTCCCCACAATGATGTCACTCTCACTCAACGGCATTCCAATATGCTTTCTTGAGTGGAGAGAAAGGGTGGAAGTCACAACCAGCAAATTCATTTGATCATTACCTGTAGCTTGTCTTATTTACCCAGTGGTTCTCAAACTTGAGCATACATCAGAATCACCTAGAGGACTTGTGAAAACACAAGCTGCTGGGCCCTATCCCCAGAGTGTGATTCAGTGGATCTGGAGTGGAGCCCAGAGGCTGCCTTTCTAACAAGTTCCCAGGTGCTGCTGCTGCTGCCACTCTAGGGTTCATACTTTGAGAACCACCTTTTTAATCCATGCTCTGTATGGATTTCCTGATGATATGCCATGAACAACTTTTGCCATTATGAATTATCATAGTGCTTTTTACTTCCCCATGATGTATTTTTGGGGAGAGAAGTGCCCATCAAAATCTGTGTGAACTCGCAAAGGCACATCCCTCAAGTGAACACTTCCCACCATACGGGAGGCAAAACCAGAGCTCACCACCATTACTACAGATCAACCATTTATTCCCCAATATTCCAGAACAGGCTCACCCACTGCCATGTGGGTGGTCACTGGTCATCAGACTTAGTCCATAGCTGTCTGTCACCAAAAGTGGGTAACCAGTGTTCAAAAATTCAGAAATCAGTTCTGACTTCTAAAGCATTCCAAAGGAACCCAGGACACAAAACCCAGCCTCGAGCTGCTGCTGCTGCTGCTTCCAGACAGAAACTTGACTTTCCTGGGTGCCTCAGCTCAGAGGGTCCACTGCTCTGTGTCAAGAGTAGCCTTTTTCAGAGTAAACATGAATTCTACATTACTTCCCATTTGTAATTCTTTG
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CTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATATGAGTGAGGCAAAGAGAAGGCTGAGAAAGGTCCCCAGATTGTGAAGACACAAATAAAAATTCAGCGAAGTAAAAAATACTGCTTTTTACCTCCCTGGGGGCCAAAGAATATCATATTAGTTTAATAGAGCTACTGTCTGCAGAGACATCTACCTGGCAGTATAAGCAGAGATGAGATCACCTCTCTGAGTTTATGTCAACTAACAGTTTTGGGTTGAAATTTTGAAGCTAGATAGAGTCCAGAGGCAAGGAGGCTCACCTATGGTGAAAAAGCCTGGCAAAGCTTCAGTAGGGTAGTAGAAAGGGCAACAGAAAAAATGGGCAGCCTGGCCCACTGCATGACCTGAGCCAGGTCTCTTCCAAGTGCTGGACTCAGCTCCCTCATCTGTCTAGCAAAGGGTTCAAACTGGAGACCTGAGGCACCCCCTAGCTAAGCATGCTCTCCTTCTAAGTCTCATCTTCTGAGTAAATAGGTTCCCAGACACTGGAAAGTAGGAAAGGGACTCTTCTGAGTCCTAGAAAGCCTAGTACATGGGTAGTTACATATTCTGTCTGGAAGAAGGCCTGGCTCTTCACCCAAAAGCTGGATGAGGAAGAAGAGTGGATATGTCCCTGGGGCAGTAGCTACAAATGGACAGAAAGTTGGTCCAGAACTGGCTGAATAAAACAGGGTTGCATGGAGGATGTGTCCCAGGCTAGGAGGGGTTGGGAACACACCCTAAACCTACCAGTACTGCCATCAAAGCCTCCCACTGCGTAGAGCAAGTCATTGAGCACCGCTGCGCCCAGTGTGCTCCGGCGCTCCTGCATGCTGGCAATGGACGTCCACTGGTCCTTCACGCCGTCATACACATCCACTGTCCGCACCCGCAGTGAGCCATTAAACCCTCCCACGGCATACACGTGGCCAGCCATGAACACCACACCTGAGGCACAGGAAACCAAGACATCAAGGTCAGGTCAGGCGCATGACTGCTCATGTTGATGGATGGCAATGGAGGAGCAAGACAGACACAGGAAAAGTCGCCACCGAAGATACTTTAGGTATTTGGCAGTCATTATGGGATTCACTGGATTTCTTTCCTACTTGCTTTTCTAATTTTGTCTGATTCAAGTAAATATTTGAATCAGCTTTAACTCCCCAAGCTCATAAGAACTGACCCCAAAAGAGCCAAAAACTGTGCAAGTGGCCGGGCATGGTAGCTCACGCCTGTAATTCCAGTACCTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAAAATGGTGAAACCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGTGAGAGAATCACTTGAACCCAGGAGGCAGACGTTGCAGTGAGCCGAGATCATGACACTGCACTCCAACCTGGGTGACAGAGAAAGACTCTGTCTTAAAACAACGACAACAACCAAAAAAAAAAAAAAAGTGTGCAGGAGGGAAACGAATGGGAGCCTGAAATGCACAGATGCTTGAGGAAACAAGGAGTAGCTCACGACTTCTGGCACGGAGTGGGGACCAGCAGGGGAAAAACAGCTTGCAGAACTGGGAGGCTGCTCACCTGCTCTGCATCTTCTGGAAGGAAGCTCAGCAATCTGATCCCACCGGTCCTCCTCGAAATCATAGCACTCCACACTGCGGATTGCCTTGGGTGCCCGGCCGCCAACCACAATCATGACCTCCGGAGAGACAAGTGGACGTTAGCGGGGTCACCCCAAAATCTGGATTTATGGTATCCCTGGTACTTCCACATGGCTTATCGCCCAGGGTGTGTGGATGATCTGAGATGCCAGTTTACAGAGCTACATACATGGGGATGCTGCTCCTGGTCACCAACAGGTATGAGTATTCAAGAAAAGTCTAACAAGCATCTTCCCACAGAAACACAGTCATAAGTTCTGTTTCCCAAATGCCCCACTCGGGGCTATCTTGTGGGTATGTGAAGCCGCACAGGGCATCATCTGTAATCTCAGTGCCCTCAGATTGGGAATGGGGGGTGCTAAATCTTATATCAAAACAAACTTGAATATACTTTGAAAAAGAGTTCAGAATTTGGACGTATGTTTTAAAGTATTACTCAAAAGCATTTCTGAATGCCTAGAATGTAGGGTGCACTTATGCACTGCAGTATAGAAAAAAATTGAAAAACTCCTGTGAGATGTTTATTACAAAAGTTATTAAACTGATGATGTTCTGGAAACTAGTGCTAGCAGTCCTATTTCCACAAGTAAGGTAGTAGCTACCACTGCTAGGTACCATGTGAAATGTGTTGTCATTTACTTGTCACCACAACTGTGAGGTAGATATCATCATCCACATTGACAGATAGCAAAGTAAAGCTCAGAGAACACATGTAAGTGGCCCAAGGTCACACAGCTAAGAGTGTAGGCAGAGACTGAAACCCAAGTCTACCTGACAGAGGGTGAGGCCAGCCACCCCCCCCAACTCCTGCTCTAGAGACAGGATCCAAGCAAACACAGCTTGCTGCATCTATGTTTGTCAAAACACAGGTCGCTTTCCATTAGTAGGTCATGAAATCAATTTAATGGATTATGACCAGCACATATATTTTTAAAAGCACAGAAAATATGATAAGAATATTATTTCATGAAATATTGGTTTTGGCTATACACACTTACATGTGTCTTCTGGATAGCAATTTAAATGCATTTTGTATTGCAAGGGCATGGTCAAACACAATGAAAACTACTGCTCTGGTTAGGTTAATAGAACTGCAGTACTTAATTATGGTATCACTGCTGTGTCTTTGGTCACATGTTATTAATAAATAAAAAATTAAAGTACCAGTTACCTATAGTTTACATATTTTAATAAACATGTACAAATTCATAGCTGTCCCCACAATGATGTCACTCTCACTCAACGGCATTCCAATATGCTTTCTTGAGTGGAGAGAAAGGGTGGAAGTCACAACCAGCAAATTCATTTGATCATTACCTGTAGCTTGTCTTATTTACCCAGTGGTTCTCAAACTTGAGCATACATCAGAATCACCTAGAGGACTTGTGAAAACACAAGCTGCTGGGCCCTATCCCCAGAGTGTGATTCAGTGGATCTGGAGTGGAGCCCAGAGGCTGCCTTTCTAACAAGTTCCCAGGTGCTGCTGCTGCTGCCACTCTAGGGTTCATACTTTGAGAACCACCTTTTTAATCCATGCTCTGTATGGATTTCCTGATGATATGCCATGAACAACTTTTGCCATTATGAATTATCATAGTGCTTTTTACTTCCCCATGATGTATTTTTGGGGAGAGAAGTGCCCATCAAAATCTGTGTGAACTCGCAAAGGCACATCCCTCAAGTGAACACTTCCCACCATACGGGAGGCAAAACCAGAGCTCACCACCATTACTACAGATCAACCATTTATTCCCCAATATTCCAGAACAGGCTCACCCACTGCCATGTGGGTGGTCACTGGTCATCAGACTTAGTCCATAGCTGTCTGTCACCAAAAGTGGGTAACCAGTGTTCAAAAATTCAGAAATCAGTTCTGACTTCTAAAGCATTCCAAAGGAACCCAGGACACAAAACCCAGCCTCGAGCTGCTGCTGCTGCTGCTTCCAGACAGAAACTTGACTTTCCTGGGTGCCTCAGCTCAGAGGGTCCACTGCTCTGTGTCAAGAGTAGCCTTTTTCAGAGTAAACATGAATTCTACATTACTTCCCATTTGTAATTCTTTG
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Task1_train_9520
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Given a variant located on Chromosome 5 and affecting KLHL3 (kelch like family member 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Pseudohypoaldosteronism type 2A
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AGCCGAGATTGCACCACTGCACTCCAGCCCAGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAATCTGCAGAGAAAATGCTTGCCTTAGCACACCCATCCATCTAGAAAGTGACCTCTTCAAAGGCTTCACTGGGAGCCCTCCCCAGGAAGAGAAAGGGCTCCCTAAGTGAAGGTGGAAAGGCAGTGGAGAATATGCAGGGAAAAGAGAGCACAGGAACGGCAGAGAAGCAGAAGGGTCAAGGTTCAGAGCCAGAAAGAATCAGCAGGACTCAGAATTGAGGCTACTGGGTAATGTCCTTCACAAAAATCATCATATCAAGACTATCTTTACAAGTCTTCAGAAAGAAGACTTGTTTGTGCCTTCAGAAACAGGCTGCAGGGAGACATGAGAGTCTCTGCAGGCTCCTGGGGTCAGGGACTTAATCAGAGAGAAAAAGCATGCCAAGAAATGGAGCAAATGCTTGTTGCTTTGTTGACCAAGAGGCTAACACAGCACAGGTAGCTAGCTGGCAGGTGGGCAGCCAGTAGGTCCTCAGCTAATTTCCAGACACTGGCCAAACAGGAGACACGGAACAGAATAGCAGCCATGACAGTGCTTGAGCAGGGGTAAGAAGGAGGTGTTTTATTGCAAGGGAAGAAGGTGGCCATGACTGAATTTATCAAGTTAAATGATCAGACCTATTTCCTAGTCATTCACCATCTTTCTTCAGGCTGGAACAAGTGGCAATGAAGATTTCTTTCCAGCTAGCTAAATAAACATAATGGACTGAATATAAATGTTCATTTCTACTCCCTCCCAAAACCCCATTAAAATAATAGAATGACAAGCTCTAGTGCAGAGAATGTCTCCAAGAAAAATAAGTGAACCAACAGATTATCTGATGTATTGAGGACTGTTCTAACAAGAATTAGTGGTAGAACCATACACTATGCAAGAGAAAAAGACAATTATTAACTGCCCTTCTTATTAAAGTTTTCTGATTTAAAAAAACACTATAATTATAATAGATGGCTTAGTTCAGTTGTGGAAATGGTATTTGGACAATAAAGAGGGGGGTGGCTGCATGTGTATAAAGGGAAAGTCTGCAAAAGCTCAATCTTATTCTTCTGGAGAAGTCAACAAATAATATCTAAAACTAATCAAAAAATAGCAGTTGCACATATTATTTTGATAAATGGAAGTGAGTAGCAGATGAAGTAGCTTTTAGCTGGATCAGAACCTGCATTTTAATTCCTTAAGGATTGAAAATGAGTGGCTCTGGAGCACAAGACTCAGTGTGGAAAGGTGGAGCAGGGCACTCCTCATCGTTATAAGCCCTGCAATAGTACGTGACTTTTTTTTTTTTTTTAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGAAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGATTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCAAGCCCCGCTAATTTTTTTTTTTTTGTATTTTTAATAGAGACGGGGGTTTCACCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCATGACCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCAGTACGTGACTTTTAAAAGAATGTTTATGGAACGCTCAGATAAAAACAAAGCTTTTCTTAACAATAACAAGACGTAGCTCAAGACCTAGCTCAGTTTGCTCTCCCCACTCCCCAAATCTTCTTGGATCTCCTTCCTCTACTCTAGTGAAAATTACTGTCTGTACCATCCCCTTGGCAATTAATCATTTTCCACTTGGCAATGAGCTAAACTGTCCTATCATTAATTATCTTTCCACCTGTATCCCTAACTAAATCATAGCTGCTTCACAGCAGAGACCACTTCTCATAATCTTTGAGGAGTCTGCAGAAGACCAGGTGATTAGATCCACAAACTCGGAGGAGGTGCAGCAGTCCGGCTCCCCCTTACCTGCGTAGGCATTGGCCTGCTGCAGAAGGTCAGTGCAGGTGTGTACATCTGCAAATGCACGGATGCCCAGGCAATTGGTGGGATGCAACTGAGACTGCAGGAAGTCACAGCAGTTCTGCCGAACATCCATGAGCTGCAGCAAGCTGGCTGCCGGGAGCAGCACCTGCAAGAGAAGGTGACATTCTCAGATATTGGATCCCACTGGCAGAGACTCATCTGCCTTTTCCTATCATATCACTCCCATGCTCAAGATCTTTTCATGGCTCTCCACTGCCCGCCAGTAAGTCCAAACTTCCTAGCCTGCTTTCCAGCCTTATTTCCCACTACTCTGCCCTTCACGGACCCTAAACACCAGCAGATTCTCTGTATCCCTACAGCCATGCTTCCCAGTCTTTAATCCCTGGGGATCTTATTAAAATGCAGATTCTAATTCATTAGGTCTAGGATGGGATCTGAGAGCCTGCATTTCTAATAAGAACTCAAGTGATGCTTGCAGTTGCTGGTCCACAAACCACACTTTGAGTAACAAAACTCTACACACACACACACACACACACACACACACACACAATGGTTCTCATACTGGGCTGCACACTGGTATTACCTTAAGAGTTTTAAAACTACTGATGTCTAGGTCTTGCCCTAAAAGAATCTAACTCAATAGGTATGGAGTGTGGCCTGGACATTAAGATGTTTTTTAAAGCTCCCCAGGTGCTTCTAATGTACAGCCACGTTTGAGAGCCACTGTCCCACAACCTTCAGTGTACTGTCCTCATTCAGAAAGGTACTTAATGAATGATTAATTACTGAACATCTATGTGCCAGGCACTAGTTTAGGCTCTGGGATTCAGGGGTAAGCAAGAGAAACCAGATCCTGTTCTCCTGGAGCTTAGAGTCTACTGGAACAAGATTCATTCCAAATCCCTCAGGACTCAGGCAACGACACTTTATTCTCCCATCAAACAGATACAAAGCAAAGAACATCTTTAGGTACATTCTTAGAGAAAGGAGAGCTAAGTTTCCATTTAAAAGGTCACAGGACACATGACTATTTATACTATATCCTGAAAGACAGAAATAGTTCTTGCTCAGGTGTATATGCATGTGTTTTTCCTAAGGGTCAGGGAAGACTGGCTTGAGCAGGCCCGCTGGGTGCTCAGACAGCCAACCTCTATCAATTTTCCCTAGGACTTTCCCTCAGCTGCTGAAGCCTGCCTCTAGATCAAACATACAGGACAAAAGGCCAAAGTCCTGTCCCACTCCAGCTCTGCTACCCTGCCCTTCACCTATGGAAGCAGCAGGTAGTCTGAGAATGATTTTCCAAAAAGAAATTTAGAAAAAAAATCACACTACAGAATAGCTTGATTTAAGGCTGCTTATCTTGGGGACCCTGGCATCCACTTCACCCCAAAATAATCCCCTTGCCCCAGGCCTTTGCTCTCAGCTGCTGCCCTGGCTCTGAGAGAGTGACTGAGCCAGCTACACTCTAGCTGTTCCCAGCCACAAGGGCTTGCCCAGGAAGATATGGGCTGCAGATGCATTTGTTTTCTTGATTCAGGACACTTGAAAAAGACTTCTTTTTTTTTTTTTTAAGTGCTTTAAATTCTGGACTCTTTCTCCCAAGACAGCTCTGAGTCCTCAGCTCTGACTCTCATCACTTTTATGTACTCAGGCCAAAAACTCTGCCCCACTGCCCATTTGGGGGCTTTGTCCCTCCACTGGGTTTACCAACAGTCCTAGTTTTTCCAGGACTGGGGGTTTCCCAGGACTTTCAGGGCTAAAAATGGGACAGTCGGTCACCCTTCATTATCCCTGCCCACAGACAATAACCACCAAGAGCCACCACTATCAGTGCTCGAACTCCTGAGCCAAATGCCTACGCTCAACAAGGAAAGCTGCTCCTACCCACAGGCTTACACTTCTCTCTCACGACAGCTGAGTTCTAGAAAACGTGCTCCTTTTCCCTTCCTCCATCCTCTCTTCCACTATCCTATATCCCCAGCAGGAAAACAGTAAATTAACACCATGTCTGTGATATTTTCTGAACCACTAATACATTCCTGAGAAAGAAAAAGATAAAATC
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AGCCGAGATTGCACCACTGCACTCCAGCCCAGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAATCTGCAGAGAAAATGCTTGCCTTAGCACACCCATCCATCTAGAAAGTGACCTCTTCAAAGGCTTCACTGGGAGCCCTCCCCAGGAAGAGAAAGGGCTCCCTAAGTGAAGGTGGAAAGGCAGTGGAGAATATGCAGGGAAAAGAGAGCACAGGAACGGCAGAGAAGCAGAAGGGTCAAGGTTCAGAGCCAGAAAGAATCAGCAGGACTCAGAATTGAGGCTACTGGGTAATGTCCTTCACAAAAATCATCATATCAAGACTATCTTTACAAGTCTTCAGAAAGAAGACTTGTTTGTGCCTTCAGAAACAGGCTGCAGGGAGACATGAGAGTCTCTGCAGGCTCCTGGGGTCAGGGACTTAATCAGAGAGAAAAAGCATGCCAAGAAATGGAGCAAATGCTTGTTGCTTTGTTGACCAAGAGGCTAACACAGCACAGGTAGCTAGCTGGCAGGTGGGCAGCCAGTAGGTCCTCAGCTAATTTCCAGACACTGGCCAAACAGGAGACACGGAACAGAATAGCAGCCATGACAGTGCTTGAGCAGGGGTAAGAAGGAGGTGTTTTATTGCAAGGGAAGAAGGTGGCCATGACTGAATTTATCAAGTTAAATGATCAGACCTATTTCCTAGTCATTCACCATCTTTCTTCAGGCTGGAACAAGTGGCAATGAAGATTTCTTTCCAGCTAGCTAAATAAACATAATGGACTGAATATAAATGTTCATTTCTACTCCCTCCCAAAACCCCATTAAAATAATAGAATGACAAGCTCTAGTGCAGAGAATGTCTCCAAGAAAAATAAGTGAACCAACAGATTATCTGATGTATTGAGGACTGTTCTAACAAGAATTAGTGGTAGAACCATACACTATGCAAGAGAAAAAGACAATTATTAACTGCCCTTCTTATTAAAGTTTTCTGATTTAAAAAAACACTATAATTATAATAGATGGCTTAGTTCAGTTGTGGAAATGGTATTTGGACAATAAAGAGGGGGGTGGCTGCATGTGTATAAAGGGAAAGTCTGCAAAAGCTCAATCTTATTCTTCTGGAGAAGTCAACAAATAATATCTAAAACTAATCAAAAAATAGCAGTTGCACATATTATTTTGATAAATGGAAGTGAGTAGCAGATGAAGTAGCTTTTAGCTGGATCAGAACCTGCATTTTAATTCCTTAAGGATTGAAAATGAGTGGCTCTGGAGCACAAGACTCAGTGTGGAAAGGTGGAGCAGGGCACTCCTCATCGTTATAAGCCCTGCAATAGTACGTGACTTTTTTTTTTTTTTTAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGAAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGATTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCAAGCCCCGCTAATTTTTTTTTTTTTGTATTTTTAATAGAGACGGGGGTTTCACCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCATGACCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCAGTACGTGACTTTTAAAAGAATGTTTATGGAACGCTCAGATAAAAACAAAGCTTTTCTTAACAATAACAAGACGTAGCTCAAGACCTAGCTCAGTTTGCTCTCCCCACTCCCCAAATCTTCTTGGATCTCCTTCCTCTACTCTAGTGAAAATTACTGTCTGTACCATCCCCTTGGCAATTAATCATTTTCCACTTGGCAATGAGCTAAACTGTCCTATCATTAATTATCTTTCCACCTGTATCCCTAACTAAATCATAGCTGCTTCACAGCAGAGACCACTTCTCATAATCTTTGAGGAGTCTGCAGAAGACCAGGTGATTAGATCCACAAACTCGGAGGAGGTGCAGCAGTCCGGCTCCCCCTTACCTGCGTAGGCATTGGCCTGCTGCAGAAGGTCAGTGAAGGTGTGTACATCTGCAAATGCACGGATGCCCAGGCAATTGGTGGGATGCAACTGAGACTGCAGGAAGTCACAGCAGTTCTGCCGAACATCCATGAGCTGCAGCAAGCTGGCTGCCGGGAGCAGCACCTGCAAGAGAAGGTGACATTCTCAGATATTGGATCCCACTGGCAGAGACTCATCTGCCTTTTCCTATCATATCACTCCCATGCTCAAGATCTTTTCATGGCTCTCCACTGCCCGCCAGTAAGTCCAAACTTCCTAGCCTGCTTTCCAGCCTTATTTCCCACTACTCTGCCCTTCACGGACCCTAAACACCAGCAGATTCTCTGTATCCCTACAGCCATGCTTCCCAGTCTTTAATCCCTGGGGATCTTATTAAAATGCAGATTCTAATTCATTAGGTCTAGGATGGGATCTGAGAGCCTGCATTTCTAATAAGAACTCAAGTGATGCTTGCAGTTGCTGGTCCACAAACCACACTTTGAGTAACAAAACTCTACACACACACACACACACACACACACACACACACAATGGTTCTCATACTGGGCTGCACACTGGTATTACCTTAAGAGTTTTAAAACTACTGATGTCTAGGTCTTGCCCTAAAAGAATCTAACTCAATAGGTATGGAGTGTGGCCTGGACATTAAGATGTTTTTTAAAGCTCCCCAGGTGCTTCTAATGTACAGCCACGTTTGAGAGCCACTGTCCCACAACCTTCAGTGTACTGTCCTCATTCAGAAAGGTACTTAATGAATGATTAATTACTGAACATCTATGTGCCAGGCACTAGTTTAGGCTCTGGGATTCAGGGGTAAGCAAGAGAAACCAGATCCTGTTCTCCTGGAGCTTAGAGTCTACTGGAACAAGATTCATTCCAAATCCCTCAGGACTCAGGCAACGACACTTTATTCTCCCATCAAACAGATACAAAGCAAAGAACATCTTTAGGTACATTCTTAGAGAAAGGAGAGCTAAGTTTCCATTTAAAAGGTCACAGGACACATGACTATTTATACTATATCCTGAAAGACAGAAATAGTTCTTGCTCAGGTGTATATGCATGTGTTTTTCCTAAGGGTCAGGGAAGACTGGCTTGAGCAGGCCCGCTGGGTGCTCAGACAGCCAACCTCTATCAATTTTCCCTAGGACTTTCCCTCAGCTGCTGAAGCCTGCCTCTAGATCAAACATACAGGACAAAAGGCCAAAGTCCTGTCCCACTCCAGCTCTGCTACCCTGCCCTTCACCTATGGAAGCAGCAGGTAGTCTGAGAATGATTTTCCAAAAAGAAATTTAGAAAAAAAATCACACTACAGAATAGCTTGATTTAAGGCTGCTTATCTTGGGGACCCTGGCATCCACTTCACCCCAAAATAATCCCCTTGCCCCAGGCCTTTGCTCTCAGCTGCTGCCCTGGCTCTGAGAGAGTGACTGAGCCAGCTACACTCTAGCTGTTCCCAGCCACAAGGGCTTGCCCAGGAAGATATGGGCTGCAGATGCATTTGTTTTCTTGATTCAGGACACTTGAAAAAGACTTCTTTTTTTTTTTTTTAAGTGCTTTAAATTCTGGACTCTTTCTCCCAAGACAGCTCTGAGTCCTCAGCTCTGACTCTCATCACTTTTATGTACTCAGGCCAAAAACTCTGCCCCACTGCCCATTTGGGGGCTTTGTCCCTCCACTGGGTTTACCAACAGTCCTAGTTTTTCCAGGACTGGGGGTTTCCCAGGACTTTCAGGGCTAAAAATGGGACAGTCGGTCACCCTTCATTATCCCTGCCCACAGACAATAACCACCAAGAGCCACCACTATCAGTGCTCGAACTCCTGAGCCAAATGCCTACGCTCAACAAGGAAAGCTGCTCCTACCCACAGGCTTACACTTCTCTCTCACGACAGCTGAGTTCTAGAAAACGTGCTCCTTTTCCCTTCCTCCATCCTCTCTTCCACTATCCTATATCCCCAGCAGGAAAACAGTAAATTAACACCATGTCTGTGATATTTTCTGAACCACTAATACATTCCTGAGAAAGAAAAAGATAAAATC
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Task1_train_9521
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This variant affects the gene KLHL3 (kelch like family member 3) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Pseudohypoaldosteronism type 2A
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AGATGAACAGGAAAGCTGGCAGAACAGCACTGTGATTAAGCGTCATTTTGAATTTTGACTCCTCCACTTACCAGCCATGCAACTGAGGACAAATTACTTAACCTCTCAATGCCTCTGTCTCCTCAAAAATAAAATGAGGACAATAAGGTTTGTTATGAGGATCAAATGAGAAAAATTTAAAGCAGTTAGCACAGTGCTTGGTACATAGGAAGTGCTCAGTTGATGTTAGTTTTTATTATTGTAAATAATTATGAGCCAAAGTCAAGGTTCTGATCATTCATTTCATGAGAAACTAGAATTCATCATAGCCACAGAGCACAGTGAGTCAGAGGGGGCTGGCTTCAGCTTCCAACTCTACCACTTACTCTCTATGTGACCGTGGCAGTTTATTTAACCCCTTTGAGCACCAGTTTCTTCAGCTGTAAAGGAGGAATCATATTGGTATGGTCCAATGGGTGATTATAAAAATTGAATGGAATAATGCATGTGAATTGATGGGCACATGCTTGCTTATAAAAGTATGACTGCTGGTACCTCCACCACGGAACAGGAACTCAGGGTCCCTCCAAGGTACGTGTGCCTGGGAAGGGACTCCAGGTGTAGCTCTCACAGCCATTTAACCAAGCCCCAGATCTCTGACCCTTGTTTCTAAGGCTTTCAGGAAAGCCCCAGTGCCTCCATGCTCATCTCCTCGGTGCACCAAATCCTCAATACCTCCTGTCTTCACAGACAACCTGTGAGCAACCGCCTCAGCAGATACATAACAGCATGAAGAAGAATCCATGTTTTTATCCAAACTCTCTTCTTCCCAATCTTTTTTTTTTTTTCTTTTTGGAGACAGAGTCTCGCTCTGTCATCCAGATTGGAGTGCAGTGGTGCAGTCTCAGCTCACAGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAAGTAGATGGAATTAAAGGCACCTGCCACCACGCCCAGCTAATTTTTGTCTTTTCAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTTTCGAACTCCTTACCTCAGGTGATCTGCCTGCCTCAGCTTCCAAAAGCGCTGGGATTATAGGTGTGAGCCACCATGCCCAGCCCCTTGCCAATCTTTCTTGTTTTTTCTCCAACATCACCCTTGACCTAACCACAGTTTAAAGTGAAGAGATTAAAAGTCCCCAAACAATGAGGTTCAGAGAATTTTCAGTTTGGTGAATGCATCCACATGCTGGGAGGGTGACATAACCCAACCTCATAAGACAGAAGCTTCTGGACTCAGGACCACCAAACAGTGAACATTATGTCCACATAAACTGTACCTTGCTTTATGTACCTCTTAATCCTAACCAGGCAATAAGGATCCAGAGTAGAATATCTTCTAATTATCCAAGTTTGTAAACACTTTGTATTTTACAGGAAAAAAAAGTTATTAAATAAATACATGATGAAAAGAGCAAAGAGAGCTGGTTCCAATTATAGACTTCTACTACCTCCCCTCTACTCATTTTATGCCAAATTACTTTGCACTTACTGTTAGTACCCAAAAGTTATTCACCTGTTTGAATTCTGAGATGAGACGATGACCTGGGGAGAATAGGAGTCACCTAAGCTCCCAGCTTTTCCTTCACAAGATTTTGAAGACATGAGTTAAAGATCTTCTACTCCCGGGGCCCAGGCTCATTCAGGGATATCATGGCCTAGTGGCTAAAAGCATGGGTGCCCAAGCCAGGAAGGCATGAGTTTGAGGACCAGCTCGACCACCTCCTGGCCATGTGGCCCAGGGCAGGTCACCTGACCTCTCTGGAGCTTTAGTTTCCTCTTCAGTAACCAACTGAATTGTTGTGAGGGTTAAATAAAATAACGCTGTAAAATGGTGGGTCCTGAGTGTGCAATACACTGAGCTATTAGTGAGCCTGAGTTTACCTGGACATTCTCTTCAGTCACCTCGATTTCAGCAGTATAGATGTAGTCAATCAGCTTACTCAGCGTCTGCCCATCCACGTCCTTGATTTCTATCTTTTTGGCTTTACTCTCAGACATGTCACCTAGAGTTTACAACAAAAACAAAATGACATAAATGTGGTACCTGGGATATGTTTACCTTCCAGATGGTCTCCTGCCCTGTCTTGGAAACATAAAAGCACTTCCTGGGCTCCAGGAGGCAGCAGAAGGGATTCAGGCACAGAAGAGGATAAACCAGGTAACATCAAGGTCACATCAGCTTTGGGTCTGTGATCACCTACAAACCCAGCCTTAAGCATTCCTTACTCTATCTATTGCCCACTTCCATTGTGAAGGCAAATCTGTGTGCAATCACTCATTTAACCAACATTTACTGTAAACTTCCATATACAAGGCCAGAAAAAGTGAACAAGATATGCACCTGTCCTTAAGGAACACAAGTCTAGTAAGGCAGATATACAAAAGTGTTTATAAACAGAGGTGATAAGAGCTTAGTAGACAGTTATACACAAAGTATTGTGATAACAACAATAATAAGTAACATTTCTTGAGAGCTAACTATGGCCACACACTTAAGCACTTTAAAGTCTTTTAATCCTCACAACAACCTTGAGGTTTATTAATATTATTGCCATTTTACAGATGAAGAAACTGAGCACAGGAGGGTAGGTAATTCATTTTGCCCACAGTCACACACCTAGGAAAGGCCAAGTTGGGTTGAAACCCAGGGAGTCTGACTCTAGAGTCCATATTTGTAACCACTACGCTATACTAAATCCCAAGAACACAGAGGAGGGAGCAACAAATCTCTCCTGGGAACTCCAGTCAGGCATCCTATTAAGAGGTCACATTTGAGAGAGGTATTAGAGGATGAGGACGAGTTCTACAGGCAGCAAAGGTGAGGAAGGATGAGCTGAATCTGGGATCCATTCGTGCAAAGAGAAGAAAGTACCAAAAGAATAAATTTTGGTGAAATGGCGAGAGGTTGGTGTGGCTGGTACATGGAGTAACAGTGAGAAGAAGGAAGCTGGAGAGGTAGATGGGGCCAGGGCTTGACAAGCCCTGTAAGTCAAGCTGGGACTTTATCCCAGGTGTAGCACCATTGAGAGGTTTTCAACAGGGAAATGACATCAACAGATGGGCATTTTTGAACGAAATTTTGGATGCAGGGTGGAAGCTAGATCACATGCAGGGAGAACAGCTGGAGGCCCTGATAATAATCCAAAAAAGAGAGAAGGCAGGGCTGTAAATAACGGCAATAGCAGCACCACATTTCCACGGTCCTGAGGCCCCTTGCCTTCAGCCTGCACTCTATATACAACACACGGGTTTATCGAAAGCCAGGCCCATTCAACAAGGGCTGCTGATTTCAGGAAAGACAGGCAACACATGTCTTTGTAGACTGAAATAAAGGGCAACCTAACTGCAAGAAACAAGAGATCCAGAAGCCTCAATGTGAGTGTGAAAACAGAGCCTGGGCAGTTGTTTTCTCTCTGTGGAATTCATACACCAGAGCCAAGAAAATAAAGTACAGTACAGCATGTGGGCTGCAGACACCCACCTCCAAGCTGCACGGACTGCACATGATTCCTCCACCAATCCAAAGTCCCATCCTGACACAGTTCTAGAGCTGAATGACTGGAACGGAGAGAAAAGTAGCGGGGGAGACATTCCAAACCCCGCCTGCTCCCTTAACTGCCAGATCAGGTGGACCTGAGACCCTCCACCCTGTTCTCTCTTCTCTGACTGCCAGTGAAAGCCTGTGAAAGGCCTCAGCACAGTGCCCTGGGGCAGAATGAACAGGTAAAGAAACAAGGGAAAAACAGTATATTACTCCTCCACCCATAAGACAGGATCCACAATCTCTCTCTTGAGTTTATTGAGACACACAAACAAAAACATGCATACACAAGGAAATCAGAAGTTAAGCTATTAAAAAGTTCATTGATGAGGGTCCAGTTGGTAATTACACTGCAAAAGATAATCAAAGATAGCCAATTCTTTGTTTAAGGAGTTAGCCCTCAAAAAATAAGACTTAAAAAATAGAGCAGCCGGACTGTAAGAACCAAGAGATTCAGAAGCCCTCACAGCAGTGTAAATCAGAGCCTGGGCTGACTG
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AGATGAACAGGAAAGCTGGCAGAACAGCACTGTGATTAAGCGTCATTTTGAATTTTGACTCCTCCACTTACCAGCCATGCAACTGAGGACAAATTACTTAACCTCTCAATGCCTCTGTCTCCTCAAAAATAAAATGAGGACAATAAGGTTTGTTATGAGGATCAAATGAGAAAAATTTAAAGCAGTTAGCACAGTGCTTGGTACATAGGAAGTGCTCAGTTGATGTTAGTTTTTATTATTGTAAATAATTATGAGCCAAAGTCAAGGTTCTGATCATTCATTTCATGAGAAACTAGAATTCATCATAGCCACAGAGCACAGTGAGTCAGAGGGGGCTGGCTTCAGCTTCCAACTCTACCACTTACTCTCTATGTGACCGTGGCAGTTTATTTAACCCCTTTGAGCACCAGTTTCTTCAGCTGTAAAGGAGGAATCATATTGGTATGGTCCAATGGGTGATTATAAAAATTGAATGGAATAATGCATGTGAATTGATGGGCACATGCTTGCTTATAAAAGTATGACTGCTGGTACCTCCACCACGGAACAGGAACTCAGGGTCCCTCCAAGGTACGTGTGCCTGGGAAGGGACTCCAGGTGTAGCTCTCACAGCCATTTAACCAAGCCCCAGATCTCTGACCCTTGTTTCTAAGGCTTTCAGGAAAGCCCCAGTGCCTCCATGCTCATCTCCTCGGTGCACCAAATCCTCAATACCTCCTGTCTTCACAGACAACCTGTGAGCAACCGCCTCAGCAGATACATAACAGCATGAAGAAGAATCCATGTTTTTATCCAAACTCTCTTCTTCCCAATCTTTTTTTTTTTTTCTTTTTGGAGACAGAGTCTCGCTCTGTCATCCAGATTGGAGTGCAGTGGTGCAGTCTCAGCTCACAGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAAGTAGATGGAATTAAAGGCACCTGCCACCACGCCCAGCTAATTTTTGTCTTTTCAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTTTCGAACTCCTTACCTCAGGTGATCTGCCTGCCTCAGCTTCCAAAAGCGCTGGGATTATAGGTGTGAGCCACCATGCCCAGCCCCTTGCCAATCTTTCTTGTTTTTTCTCCAACATCACCCTTGACCTAACCACAGTTTAAAGTGAAGAGATTAAAAGTCCCCAAACAATGAGGTTCAGAGAATTTTCAGTTTGGTGAATGCATCCACATGCTGGGAGGGTGACATAACCCAACCTCATAAGACAGAAGCTTCTGGACTCAGGACCACCAAACAGTGAACATTATGTCCACATAAACTGTACCTTGCTTTATGTACCTCTTAATCCTAACCAGGCAATAAGGATCCAGAGTAGAATATCTTCTAATTATCCAAGTTTGTAAACACTTTGTATTTTACAGGAAAAAAAAGTTATTAAATAAATACATGATGAAAAGAGCAAAGAGAGCTGGTTCCAATTATAGACTTCTACTACCTCCCCTCTACTCATTTTATGCCAAATTACTTTGCACTTACTGTTAGTACCCAAAAGTTATTCACCTGTTTGAATTCTGAGATGAGACGATGACCTGGGGAGAATAGGAGTCACCTAAGCTCCCAGCTTTTCCTTCACAAGATTTTGAAGACATGAGTTAAAGATCTTCTACTCCCGGGGCCCAGGCTCATTCAGGGATATCATGGCCTAGTGGCTAAAAGCATGGGTGCCCAAGCCAGGAAGGCATGAGTTTGAGGACCAGCTCGACCACCTCCTGGCCATGTGGCCCAGGGCAGGTCACCTGACCTCTCTGGAGCTTTAGTTTCCTCTTCAGTAACCAACTGAATTGTTGTGAGGGTTAAATAAAATAACGCTGTAAAATGGTGGGTCCTGAGTGTGCAATACACTGAGCTATTAGTGAGCCTGAGTTTACCTGGACATTCTCTTCAGTCACCTCGATTTCAGCAGTATAGATGTAGTCAATCAGCTTACTCAGCGTCTGCCCATCCACGTCCTTGATTTCTATCTTTTTGGCTTTACTCGCAGACATGTCACCTAGAGTTTACAACAAAAACAAAATGACATAAATGTGGTACCTGGGATATGTTTACCTTCCAGATGGTCTCCTGCCCTGTCTTGGAAACATAAAAGCACTTCCTGGGCTCCAGGAGGCAGCAGAAGGGATTCAGGCACAGAAGAGGATAAACCAGGTAACATCAAGGTCACATCAGCTTTGGGTCTGTGATCACCTACAAACCCAGCCTTAAGCATTCCTTACTCTATCTATTGCCCACTTCCATTGTGAAGGCAAATCTGTGTGCAATCACTCATTTAACCAACATTTACTGTAAACTTCCATATACAAGGCCAGAAAAAGTGAACAAGATATGCACCTGTCCTTAAGGAACACAAGTCTAGTAAGGCAGATATACAAAAGTGTTTATAAACAGAGGTGATAAGAGCTTAGTAGACAGTTATACACAAAGTATTGTGATAACAACAATAATAAGTAACATTTCTTGAGAGCTAACTATGGCCACACACTTAAGCACTTTAAAGTCTTTTAATCCTCACAACAACCTTGAGGTTTATTAATATTATTGCCATTTTACAGATGAAGAAACTGAGCACAGGAGGGTAGGTAATTCATTTTGCCCACAGTCACACACCTAGGAAAGGCCAAGTTGGGTTGAAACCCAGGGAGTCTGACTCTAGAGTCCATATTTGTAACCACTACGCTATACTAAATCCCAAGAACACAGAGGAGGGAGCAACAAATCTCTCCTGGGAACTCCAGTCAGGCATCCTATTAAGAGGTCACATTTGAGAGAGGTATTAGAGGATGAGGACGAGTTCTACAGGCAGCAAAGGTGAGGAAGGATGAGCTGAATCTGGGATCCATTCGTGCAAAGAGAAGAAAGTACCAAAAGAATAAATTTTGGTGAAATGGCGAGAGGTTGGTGTGGCTGGTACATGGAGTAACAGTGAGAAGAAGGAAGCTGGAGAGGTAGATGGGGCCAGGGCTTGACAAGCCCTGTAAGTCAAGCTGGGACTTTATCCCAGGTGTAGCACCATTGAGAGGTTTTCAACAGGGAAATGACATCAACAGATGGGCATTTTTGAACGAAATTTTGGATGCAGGGTGGAAGCTAGATCACATGCAGGGAGAACAGCTGGAGGCCCTGATAATAATCCAAAAAAGAGAGAAGGCAGGGCTGTAAATAACGGCAATAGCAGCACCACATTTCCACGGTCCTGAGGCCCCTTGCCTTCAGCCTGCACTCTATATACAACACACGGGTTTATCGAAAGCCAGGCCCATTCAACAAGGGCTGCTGATTTCAGGAAAGACAGGCAACACATGTCTTTGTAGACTGAAATAAAGGGCAACCTAACTGCAAGAAACAAGAGATCCAGAAGCCTCAATGTGAGTGTGAAAACAGAGCCTGGGCAGTTGTTTTCTCTCTGTGGAATTCATACACCAGAGCCAAGAAAATAAAGTACAGTACAGCATGTGGGCTGCAGACACCCACCTCCAAGCTGCACGGACTGCACATGATTCCTCCACCAATCCAAAGTCCCATCCTGACACAGTTCTAGAGCTGAATGACTGGAACGGAGAGAAAAGTAGCGGGGGAGACATTCCAAACCCCGCCTGCTCCCTTAACTGCCAGATCAGGTGGACCTGAGACCCTCCACCCTGTTCTCTCTTCTCTGACTGCCAGTGAAAGCCTGTGAAAGGCCTCAGCACAGTGCCCTGGGGCAGAATGAACAGGTAAAGAAACAAGGGAAAAACAGTATATTACTCCTCCACCCATAAGACAGGATCCACAATCTCTCTCTTGAGTTTATTGAGACACACAAACAAAAACATGCATACACAAGGAAATCAGAAGTTAAGCTATTAAAAAGTTCATTGATGAGGGTCCAGTTGGTAATTACACTGCAAAAGATAATCAAAGATAGCCAATTCTTTGTTTAAGGAGTTAGCCCTCAAAAAATAAGACTTAAAAAATAGAGCAGCCGGACTGTAAGAACCAAGAGATTCAGAAGCCCTCACAGCAGTGTAAATCAGAGCCTGGGCTGACTG
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Task1_train_9522
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A mutation on Chromosome 5 affecting KLHL3 (kelch like family member 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Pseudohypoaldosteronism type 2A
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GCATTACACTGCTTTCTTCTCTTGATTCTCCCGTCCCTTCCATTCCTAGAATCTAAGAATGCCCCAGAAGCACTTTTTCTTCCAATTTGTAAAATCACTTTGGTTTTGCTATGACACTTCCGCTACTTCAGAGGCAAGTTCGTTAACAAAAAGTGGAGCCAGCATGACAATTCATTGCAATTCCAAACAGATTCCTCTCTCAACACTGAACTTTCCAAACTCCACACACAAAGAATAACTGGCAGAGCTATTTATTGAAGTTACAGCTAAATAACTATTACAGACAAGATGAACTATTTTAAAATAGAGATTGATGAAGGAAAGGGGGAAAAAAGGAAATAAAGGCCTTGCAGCTAGGGTTTAGGACAACTCAAAAGGGAATGCAGCTCAAAATTTCCAGATACTGAACTTAGCTAGTTTTCTGGGCTACAGTGTGAAATTCCTGGCCCAAGGCTGAAAGTAAGGTAAGAGTAGCCTGGTCCACTTAGCAGAGGCACCACTCCAAGTTGAGACCAGTTCCTTCACATGACAAGCCAAGGGGGACACACATGTGACAAACTCTCAGTGCACAAGTGCCAAGTCTCTCCCAACAAAACCAGTCTTGCCCAGCTGTGTACCATATTAGGAAAAGGGTCACAGCCCATTCAGCAAAAATGTGCCTGCACTCACCCCTCCTTAGCAAGCTTGTGTTCATTCTTCAGACATTCACTTATTCACCGCCTCCTGTGGTGGGCATGGAGGATTCCACAGCAACAAGACATGTTCCCCAAGTGCCCAAAGCTCACAGTCAGGTGCAGGAGATACTTCACTCACTCATTTAAAAAATATTTGTGTCCTACCATGTACCAGGTGCTCAGTATATGGTAACAAACAAGCCCACCAAGGTCCCTGTCCTCATGGGGCTTATATTCTAGTGAGGAGAGACAGGTAAAAAACACATAACAACAAACCAAGACGATTTTCAGATGGTGATAAATGTTATGAAAAGATGAAGTCAAGTTATAGGATAGAGAGAGGCCTGGTGTGGAACTATGGCCAGAGTGGTGAGAGGGGGCCTGCCTGAGGAGACATTTGCAGGATAAAAAGCAGTCAGTTACATGAGATACAGGGCATGGGCATTATAGATTCCAGGAAACAGACAAGAATGCAGGGTGACAGTCGCCATACTCAGAGCAGGCACAAGCACTTGGAAAGCATGTAGAAGGGACACCTGACCCAGTCTGGAGGTCTCACCAAGCCCAGATGGCCTCCTTCTGTCGGCAGTGATTTATAGAGCACTGAAAGTACCTGGTTCAGGGGAAGTGCTGAGAGAAACTACAGACAGGAAGCTCAGCCTGTGGGTTTCAGGTAATTCAATCTCAGAACTAACAGATGGGAAATATTTGGACAAGACTATTGGGCATGCCCAGTAAACAGGGACCCTGGAAAGTTGGCAAAGGTGCTGAAACTGAATGCCAGATATTGATTATACCTATTTCTCATCCCCCTCAAAACCCACCATCATTTTTCCAAATCTCCTCCACTCCTGTAAAGACTAGCGGAGGTCCAGGGCCCCTGTCTGGAATGAAGGTCTAGGGAAGGACAATAGGTAGGCCAGCTAGTAAAGCACTGGGCCAGGTGCCAGGAAGCCAAGTCCCACTCATTCACTGTGACCTTGGGCAGGTCTCTTCCCTTGTCTCAGCCTCAGTGTCCTCCATCTGCAAAGTGAGAGATCAGAAGACCTGGCCATGTGCCCAGGAGTCTACATTGTTAACAAGCTCCCCCACATGATTATGGTGCAGGGTGAGTTTTGAGAACTAATGGGCTATGTGAGTCTACCTTTTTTCCTCATGGTGGACAAGGGCTACATGCCCAACTGGCCTGGACCTGGTTCCATCAAGTCCTCCATGGCACAAAGCACACTATCTGGCGTAGAGAAGCCCCTCATAGTGGGCTAATGGCTTTCTCTTTCCTCCCTCCCCTCATGTCACCACCCCCAACATTCTCCCAGTGGGGCTGCAGCCCCATAACCATGGGTTAATGGTGGCCACTCACCATACCTGTGAACATCGCACAGAAGTAGGGGCTGCAGGCTGCCAGGACCACACGGTGGGCTTCTATCTCGACATCTTCTGCCACAATCATCACGTCACACAACAGCTGTTTACTGTAAGACACCAGTGAGAGGACAGGATGGGTTGCAGCAAGGACACCTACCCTCATCTTACAAGGGTATTTTTTTCTCCCACCCAGATTTCACACTATCACTATACAAAGCTGTCACAGGGACTTGCTCTATCTTGAGTTAGGGAGGGGGGTGGATTCATTGACTTTTCCAAGTCCCTGATAAACCTGACATTCATGCTTTCCTAAGGTCCATGGAGAGATCCAACTACTCTGTGGCTGTAAATTCCAGGCTGCTTCATTTGTCTTCACCTCTCTGTTCCCCAATTCTATCAGTTCAGATTGAGAAGTAGGGGTTTTGCGGCTCAGGGAACAGTGGCAAAAGCTTGGGGCTGTCATTCGAGTGACTGAATGAATGCTGAGGAACATGAGCATACCAGTGAAGTGTGTCACCAGCAAGACCAAGTACTAACAATTCCCCCAAGGGACCCACTGTATATGCAACACCAGTAAGAGGCAAGCCGGCCTTAGGTATTTCTCTTTCGACCCAGATTTAACGCTTTCAACAAGAAGACTCTGCCTGCAAACACAGTGCTCCCTAAAGACCCTGTGCAAACTCCAATCACTGTAATTATTAAAAATACTGTAATTACCTTTCTGTTTGTCACCCCAACTCAGAAAGGGACTTGTCTTATTTAATGTTGTATCCTAGACACCTGGCTGCATACCTAGCACATAGTAGACCCTAAATTTTTACTGAATAAATAAATTAATGAATGAAATGTGATCAATCCACATTCATAGACAGAATAGGGATCTGACTACTTTAGAGATTGATAGGGTGCCACAAGCTCCCATCAACCCAAGAATTTTTCCTTCATCATTCTTCTAAGCTCTTATCATGCCTGTTATCAATATAATAGTTAATATTTATTGAGTTATATGTGCCAGGCACTGTTCTAAGCACTTTTTTACACATATTACTTCATCCTCTCTACCACCCCATGAGATAGGGCTAATTGTTATGCCTATATTGAAAATGAAGAAACTGAGGTCCAGAGAAGTAATTTTCCCAAGGTCACACAGAAAAGGAACAGTGGAAACAGGATTTAAATGAAGGCAGCTGAAGCCCAGAACCCATGCTCTTCATTGGTATCCTGATCACCACTCATCCCTCCTTGAGATTAAAGCACTAGAGAGAGTAGGAAAGACAAGGAGGACAAACACACTTCAACTGTGAGCCAATGGTAGTGGTTACTTGGCACACTACCCTGGTTTGAGAAGGCTGAGGTCATGACTAGATTCTGTGTGAGAATGTTGAGGCCAATTAATGAGTCTGCCATGGTTGACGGATGGAAGAAAAGCTACATATTTGCTATCTCTGGTGTAGCACACTAAGTCACTGTCAACTACTAAGATATTTGTTTAGGTTCACATATCAGAGAAATAGAATCATAAGGCCTGAAAAGGCTGGAGCTGCAAATGCTACTAGAGATCATCTGGTCTATGAAACTCAGAGAGGTGAAAAGATGCCCAAAGCCACAGAAGTCTAAGTCTTGAATCCAGTTCTCCTTACTCCAGACACAGTGACTTTTCCATGGTATCACAATGCCTCATGATTGGCTGACATTCAGAATGAGAAAAGACAGAAGACAGGTTAGCCCCAACAGGGAGAAGTGGACAGGAAGTAGAATAAAGTATCGTTAAGGAGGCTTCCTGGAAGGGTGAGACCTTTGGACAGCAAGAGGCAAAACCGGGGGATTGAGACCTTACCCTGCAGTGGACAGCAGACCTTAATCACCAACTGTATCAGGATAAACCAGTGCAACCAGGAACAGAACTGGCTCTTCCCCTAACTGGCTATGAGACCATGGGCAAATAAGCTCACCCCATTTTTCTCACCTGTTTTAGCTGCCTTTGGGACATATATCATGGGGGCCAAATGGGATTACAGGTGCCATCTGAAAATGGCCTTTAGTCTCATTAAATTTTA
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GCATTACACTGCTTTCTTCTCTTGATTCTCCCGTCCCTTCCATTCCTAGAATCTAAGAATGCCCCAGAAGCACTTTTTCTTCCAATTTGTAAAATCACTTTGGTTTTGCTATGACACTTCCGCTACTTCAGAGGCAAGTTCGTTAACAAAAAGTGGAGCCAGCATGACAATTCATTGCAATTCCAAACAGATTCCTCTCTCAACACTGAACTTTCCAAACTCCACACACAAAGAATAACTGGCAGAGCTATTTATTGAAGTTACAGCTAAATAACTATTACAGACAAGATGAACTATTTTAAAATAGAGATTGATGAAGGAAAGGGGGAAAAAAGGAAATAAAGGCCTTGCAGCTAGGGTTTAGGACAACTCAAAAGGGAATGCAGCTCAAAATTTCCAGATACTGAACTTAGCTAGTTTTCTGGGCTACAGTGTGAAATTCCTGGCCCAAGGCTGAAAGTAAGGTAAGAGTAGCCTGGTCCACTTAGCAGAGGCACCACTCCAAGTTGAGACCAGTTCCTTCACATGACAAGCCAAGGGGGACACACATGTGACAAACTCTCAGTGCACAAGTGCCAAGTCTCTCCCAACAAAACCAGTCTTGCCCAGCTGTGTACCATATTAGGAAAAGGGTCACAGCCCATTCAGCAAAAATGTGCCTGCACTCACCCCTCCTTAGCAAGCTTGTGTTCATTCTTCAGACATTCACTTATTCACCGCCTCCTGTGGTGGGCATGGAGGATTCCACAGCAACAAGACATGTTCCCCAAGTGCCCAAAGCTCACAGTCAGGTGCAGGAGATACTTCACTCACTCATTTAAAAAATATTTGTGTCCTACCATGTACCAGGTGCTCAGTATATGGTAACAAACAAGCCCACCAAGGTCCCTGTCCTCATGGGGCTTATATTCTAGTGAGGAGAGACAGGTAAAAAACACATAACAACAAACCAAGACGATTTTCAGATGGTGATAAATGTTATGAAAAGATGAAGTCAAGTTATAGGATAGAGAGAGGCCTGGTGTGGAACTATGGCCAGAGTGGTGAGAGGGGGCCTGCCTGAGGAGACATTTGCAGGATAAAAAGCAGTCAGTTACATGAGATACAGGGCATGGGCATTATAGATTCCAGGAAACAGACAAGAATGCAGGGTGACAGTCGCCATACTCAGAGCAGGCACAAGCACTTGGAAAGCATGTAGAAGGGACACCTGACCCAGTCTGGAGGTCTCACCAAGCCCAGATGGCCTCCTTCTGTCGGCAGTGATTTATAGAGCACTGAAAGTACCTGGTTCAGGGGAAGTGCTGAGAGAAACTACAGACAGGAAGCTCAGCCTGTGGGTTTCAGGTAATTCAATCTCAGAACTAACAGATGGGAAATATTTGGACAAGACTATTGGGCATGCCCAGTAAACAGGGACCCTGGAAAGTTGGCAAAGGTGCTGAAACTGAATGCCAGATATTGATTATACCTATTTCTCATCCCCCTCAAAACCCACCATCATTTTTCCAAATCTCCTCCACTCCTGTAAAGACTAGCGGAGGTCCAGGGCCCCTGTCTGGAATGAAGGTCTAGGGAAGGACAATAGGTAGGCCAGCTAGTAAAGCACTGGGCCAGGTGCCAGGAAGCCAAGTCCCACTCATTCACTGTGACCTTGGGCAGGTCTCTTCCCTTGTCTCAGCCTCAGTGTCCTCCATCTGCAAAGTGAGAGATCAGAAGACCTGGCCATGTGCCCAGGAGTCTACATTGTTAACAAGCTCCCCCACATGATTATGGTGCAGGGTGAGTTTTGAGAACTAATGGGCTATGTGAGTCTACCTTTTTTCCTCATGGTGGACAAGGGCTACATGCCCAACTGGCCTGGACCTGGTTCCATCAAGTCCTCCATGGCACAAAGCACACTATCTGGCGTAGAGAAGCCCCTCATAGTGGGCTAATGGCTTTCTCTTTCCTCCCTCCCCTCATGTCACCACCCCCAACATTCTCCCAGTGGGGCTGCAGCCCCATAACCATGGGTTAATGGTGGCCACTCACCATACCTGTGAACACCGCACAGAAGTAGGGGCTGCAGGCTGCCAGGACCACACGGTGGGCTTCTATCTCGACATCTTCTGCCACAATCATCACGTCACACAACAGCTGTTTACTGTAAGACACCAGTGAGAGGACAGGATGGGTTGCAGCAAGGACACCTACCCTCATCTTACAAGGGTATTTTTTTCTCCCACCCAGATTTCACACTATCACTATACAAAGCTGTCACAGGGACTTGCTCTATCTTGAGTTAGGGAGGGGGGTGGATTCATTGACTTTTCCAAGTCCCTGATAAACCTGACATTCATGCTTTCCTAAGGTCCATGGAGAGATCCAACTACTCTGTGGCTGTAAATTCCAGGCTGCTTCATTTGTCTTCACCTCTCTGTTCCCCAATTCTATCAGTTCAGATTGAGAAGTAGGGGTTTTGCGGCTCAGGGAACAGTGGCAAAAGCTTGGGGCTGTCATTCGAGTGACTGAATGAATGCTGAGGAACATGAGCATACCAGTGAAGTGTGTCACCAGCAAGACCAAGTACTAACAATTCCCCCAAGGGACCCACTGTATATGCAACACCAGTAAGAGGCAAGCCGGCCTTAGGTATTTCTCTTTCGACCCAGATTTAACGCTTTCAACAAGAAGACTCTGCCTGCAAACACAGTGCTCCCTAAAGACCCTGTGCAAACTCCAATCACTGTAATTATTAAAAATACTGTAATTACCTTTCTGTTTGTCACCCCAACTCAGAAAGGGACTTGTCTTATTTAATGTTGTATCCTAGACACCTGGCTGCATACCTAGCACATAGTAGACCCTAAATTTTTACTGAATAAATAAATTAATGAATGAAATGTGATCAATCCACATTCATAGACAGAATAGGGATCTGACTACTTTAGAGATTGATAGGGTGCCACAAGCTCCCATCAACCCAAGAATTTTTCCTTCATCATTCTTCTAAGCTCTTATCATGCCTGTTATCAATATAATAGTTAATATTTATTGAGTTATATGTGCCAGGCACTGTTCTAAGCACTTTTTTACACATATTACTTCATCCTCTCTACCACCCCATGAGATAGGGCTAATTGTTATGCCTATATTGAAAATGAAGAAACTGAGGTCCAGAGAAGTAATTTTCCCAAGGTCACACAGAAAAGGAACAGTGGAAACAGGATTTAAATGAAGGCAGCTGAAGCCCAGAACCCATGCTCTTCATTGGTATCCTGATCACCACTCATCCCTCCTTGAGATTAAAGCACTAGAGAGAGTAGGAAAGACAAGGAGGACAAACACACTTCAACTGTGAGCCAATGGTAGTGGTTACTTGGCACACTACCCTGGTTTGAGAAGGCTGAGGTCATGACTAGATTCTGTGTGAGAATGTTGAGGCCAATTAATGAGTCTGCCATGGTTGACGGATGGAAGAAAAGCTACATATTTGCTATCTCTGGTGTAGCACACTAAGTCACTGTCAACTACTAAGATATTTGTTTAGGTTCACATATCAGAGAAATAGAATCATAAGGCCTGAAAAGGCTGGAGCTGCAAATGCTACTAGAGATCATCTGGTCTATGAAACTCAGAGAGGTGAAAAGATGCCCAAAGCCACAGAAGTCTAAGTCTTGAATCCAGTTCTCCTTACTCCAGACACAGTGACTTTTCCATGGTATCACAATGCCTCATGATTGGCTGACATTCAGAATGAGAAAAGACAGAAGACAGGTTAGCCCCAACAGGGAGAAGTGGACAGGAAGTAGAATAAAGTATCGTTAAGGAGGCTTCCTGGAAGGGTGAGACCTTTGGACAGCAAGAGGCAAAACCGGGGGATTGAGACCTTACCCTGCAGTGGACAGCAGACCTTAATCACCAACTGTATCAGGATAAACCAGTGCAACCAGGAACAGAACTGGCTCTTCCCCTAACTGGCTATGAGACCATGGGCAAATAAGCTCACCCCATTTTTCTCACCTGTTTTAGCTGCCTTTGGGACATATATCATGGGGGCCAAATGGGATTACAGGTGCCATCTGAAAATGGCCTTTAGTCTCATTAAATTTTA
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Task1_train_9523
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This gene mutation involves KLHL3 (kelch like family member 3) on Chromosome 5. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Pseudohypoaldosteronism type 2A
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ATTACACTGCTTTCTTCTCTTGATTCTCCCGTCCCTTCCATTCCTAGAATCTAAGAATGCCCCAGAAGCACTTTTTCTTCCAATTTGTAAAATCACTTTGGTTTTGCTATGACACTTCCGCTACTTCAGAGGCAAGTTCGTTAACAAAAAGTGGAGCCAGCATGACAATTCATTGCAATTCCAAACAGATTCCTCTCTCAACACTGAACTTTCCAAACTCCACACACAAAGAATAACTGGCAGAGCTATTTATTGAAGTTACAGCTAAATAACTATTACAGACAAGATGAACTATTTTAAAATAGAGATTGATGAAGGAAAGGGGGAAAAAAGGAAATAAAGGCCTTGCAGCTAGGGTTTAGGACAACTCAAAAGGGAATGCAGCTCAAAATTTCCAGATACTGAACTTAGCTAGTTTTCTGGGCTACAGTGTGAAATTCCTGGCCCAAGGCTGAAAGTAAGGTAAGAGTAGCCTGGTCCACTTAGCAGAGGCACCACTCCAAGTTGAGACCAGTTCCTTCACATGACAAGCCAAGGGGGACACACATGTGACAAACTCTCAGTGCACAAGTGCCAAGTCTCTCCCAACAAAACCAGTCTTGCCCAGCTGTGTACCATATTAGGAAAAGGGTCACAGCCCATTCAGCAAAAATGTGCCTGCACTCACCCCTCCTTAGCAAGCTTGTGTTCATTCTTCAGACATTCACTTATTCACCGCCTCCTGTGGTGGGCATGGAGGATTCCACAGCAACAAGACATGTTCCCCAAGTGCCCAAAGCTCACAGTCAGGTGCAGGAGATACTTCACTCACTCATTTAAAAAATATTTGTGTCCTACCATGTACCAGGTGCTCAGTATATGGTAACAAACAAGCCCACCAAGGTCCCTGTCCTCATGGGGCTTATATTCTAGTGAGGAGAGACAGGTAAAAAACACATAACAACAAACCAAGACGATTTTCAGATGGTGATAAATGTTATGAAAAGATGAAGTCAAGTTATAGGATAGAGAGAGGCCTGGTGTGGAACTATGGCCAGAGTGGTGAGAGGGGGCCTGCCTGAGGAGACATTTGCAGGATAAAAAGCAGTCAGTTACATGAGATACAGGGCATGGGCATTATAGATTCCAGGAAACAGACAAGAATGCAGGGTGACAGTCGCCATACTCAGAGCAGGCACAAGCACTTGGAAAGCATGTAGAAGGGACACCTGACCCAGTCTGGAGGTCTCACCAAGCCCAGATGGCCTCCTTCTGTCGGCAGTGATTTATAGAGCACTGAAAGTACCTGGTTCAGGGGAAGTGCTGAGAGAAACTACAGACAGGAAGCTCAGCCTGTGGGTTTCAGGTAATTCAATCTCAGAACTAACAGATGGGAAATATTTGGACAAGACTATTGGGCATGCCCAGTAAACAGGGACCCTGGAAAGTTGGCAAAGGTGCTGAAACTGAATGCCAGATATTGATTATACCTATTTCTCATCCCCCTCAAAACCCACCATCATTTTTCCAAATCTCCTCCACTCCTGTAAAGACTAGCGGAGGTCCAGGGCCCCTGTCTGGAATGAAGGTCTAGGGAAGGACAATAGGTAGGCCAGCTAGTAAAGCACTGGGCCAGGTGCCAGGAAGCCAAGTCCCACTCATTCACTGTGACCTTGGGCAGGTCTCTTCCCTTGTCTCAGCCTCAGTGTCCTCCATCTGCAAAGTGAGAGATCAGAAGACCTGGCCATGTGCCCAGGAGTCTACATTGTTAACAAGCTCCCCCACATGATTATGGTGCAGGGTGAGTTTTGAGAACTAATGGGCTATGTGAGTCTACCTTTTTTCCTCATGGTGGACAAGGGCTACATGCCCAACTGGCCTGGACCTGGTTCCATCAAGTCCTCCATGGCACAAAGCACACTATCTGGCGTAGAGAAGCCCCTCATAGTGGGCTAATGGCTTTCTCTTTCCTCCCTCCCCTCATGTCACCACCCCCAACATTCTCCCAGTGGGGCTGCAGCCCCATAACCATGGGTTAATGGTGGCCACTCACCATACCTGTGAACATCGCACAGAAGTAGGGGCTGCAGGCTGCCAGGACCACACGGTGGGCTTCTATCTCGACATCTTCTGCCACAATCATCACGTCACACAACAGCTGTTTACTGTAAGACACCAGTGAGAGGACAGGATGGGTTGCAGCAAGGACACCTACCCTCATCTTACAAGGGTATTTTTTTCTCCCACCCAGATTTCACACTATCACTATACAAAGCTGTCACAGGGACTTGCTCTATCTTGAGTTAGGGAGGGGGGTGGATTCATTGACTTTTCCAAGTCCCTGATAAACCTGACATTCATGCTTTCCTAAGGTCCATGGAGAGATCCAACTACTCTGTGGCTGTAAATTCCAGGCTGCTTCATTTGTCTTCACCTCTCTGTTCCCCAATTCTATCAGTTCAGATTGAGAAGTAGGGGTTTTGCGGCTCAGGGAACAGTGGCAAAAGCTTGGGGCTGTCATTCGAGTGACTGAATGAATGCTGAGGAACATGAGCATACCAGTGAAGTGTGTCACCAGCAAGACCAAGTACTAACAATTCCCCCAAGGGACCCACTGTATATGCAACACCAGTAAGAGGCAAGCCGGCCTTAGGTATTTCTCTTTCGACCCAGATTTAACGCTTTCAACAAGAAGACTCTGCCTGCAAACACAGTGCTCCCTAAAGACCCTGTGCAAACTCCAATCACTGTAATTATTAAAAATACTGTAATTACCTTTCTGTTTGTCACCCCAACTCAGAAAGGGACTTGTCTTATTTAATGTTGTATCCTAGACACCTGGCTGCATACCTAGCACATAGTAGACCCTAAATTTTTACTGAATAAATAAATTAATGAATGAAATGTGATCAATCCACATTCATAGACAGAATAGGGATCTGACTACTTTAGAGATTGATAGGGTGCCACAAGCTCCCATCAACCCAAGAATTTTTCCTTCATCATTCTTCTAAGCTCTTATCATGCCTGTTATCAATATAATAGTTAATATTTATTGAGTTATATGTGCCAGGCACTGTTCTAAGCACTTTTTTACACATATTACTTCATCCTCTCTACCACCCCATGAGATAGGGCTAATTGTTATGCCTATATTGAAAATGAAGAAACTGAGGTCCAGAGAAGTAATTTTCCCAAGGTCACACAGAAAAGGAACAGTGGAAACAGGATTTAAATGAAGGCAGCTGAAGCCCAGAACCCATGCTCTTCATTGGTATCCTGATCACCACTCATCCCTCCTTGAGATTAAAGCACTAGAGAGAGTAGGAAAGACAAGGAGGACAAACACACTTCAACTGTGAGCCAATGGTAGTGGTTACTTGGCACACTACCCTGGTTTGAGAAGGCTGAGGTCATGACTAGATTCTGTGTGAGAATGTTGAGGCCAATTAATGAGTCTGCCATGGTTGACGGATGGAAGAAAAGCTACATATTTGCTATCTCTGGTGTAGCACACTAAGTCACTGTCAACTACTAAGATATTTGTTTAGGTTCACATATCAGAGAAATAGAATCATAAGGCCTGAAAAGGCTGGAGCTGCAAATGCTACTAGAGATCATCTGGTCTATGAAACTCAGAGAGGTGAAAAGATGCCCAAAGCCACAGAAGTCTAAGTCTTGAATCCAGTTCTCCTTACTCCAGACACAGTGACTTTTCCATGGTATCACAATGCCTCATGATTGGCTGACATTCAGAATGAGAAAAGACAGAAGACAGGTTAGCCCCAACAGGGAGAAGTGGACAGGAAGTAGAATAAAGTATCGTTAAGGAGGCTTCCTGGAAGGGTGAGACCTTTGGACAGCAAGAGGCAAAACCGGGGGATTGAGACCTTACCCTGCAGTGGACAGCAGACCTTAATCACCAACTGTATCAGGATAAACCAGTGCAACCAGGAACAGAACTGGCTCTTCCCCTAACTGGCTATGAGACCATGGGCAAATAAGCTCACCCCATTTTTCTCACCTGTTTTAGCTGCCTTTGGGACATATATCATGGGGGCCAAATGGGATTACAGGTGCCATCTGAAAATGGCCTTTAGTCTCATTAAATTTTATT
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ATTACACTGCTTTCTTCTCTTGATTCTCCCGTCCCTTCCATTCCTAGAATCTAAGAATGCCCCAGAAGCACTTTTTCTTCCAATTTGTAAAATCACTTTGGTTTTGCTATGACACTTCCGCTACTTCAGAGGCAAGTTCGTTAACAAAAAGTGGAGCCAGCATGACAATTCATTGCAATTCCAAACAGATTCCTCTCTCAACACTGAACTTTCCAAACTCCACACACAAAGAATAACTGGCAGAGCTATTTATTGAAGTTACAGCTAAATAACTATTACAGACAAGATGAACTATTTTAAAATAGAGATTGATGAAGGAAAGGGGGAAAAAAGGAAATAAAGGCCTTGCAGCTAGGGTTTAGGACAACTCAAAAGGGAATGCAGCTCAAAATTTCCAGATACTGAACTTAGCTAGTTTTCTGGGCTACAGTGTGAAATTCCTGGCCCAAGGCTGAAAGTAAGGTAAGAGTAGCCTGGTCCACTTAGCAGAGGCACCACTCCAAGTTGAGACCAGTTCCTTCACATGACAAGCCAAGGGGGACACACATGTGACAAACTCTCAGTGCACAAGTGCCAAGTCTCTCCCAACAAAACCAGTCTTGCCCAGCTGTGTACCATATTAGGAAAAGGGTCACAGCCCATTCAGCAAAAATGTGCCTGCACTCACCCCTCCTTAGCAAGCTTGTGTTCATTCTTCAGACATTCACTTATTCACCGCCTCCTGTGGTGGGCATGGAGGATTCCACAGCAACAAGACATGTTCCCCAAGTGCCCAAAGCTCACAGTCAGGTGCAGGAGATACTTCACTCACTCATTTAAAAAATATTTGTGTCCTACCATGTACCAGGTGCTCAGTATATGGTAACAAACAAGCCCACCAAGGTCCCTGTCCTCATGGGGCTTATATTCTAGTGAGGAGAGACAGGTAAAAAACACATAACAACAAACCAAGACGATTTTCAGATGGTGATAAATGTTATGAAAAGATGAAGTCAAGTTATAGGATAGAGAGAGGCCTGGTGTGGAACTATGGCCAGAGTGGTGAGAGGGGGCCTGCCTGAGGAGACATTTGCAGGATAAAAAGCAGTCAGTTACATGAGATACAGGGCATGGGCATTATAGATTCCAGGAAACAGACAAGAATGCAGGGTGACAGTCGCCATACTCAGAGCAGGCACAAGCACTTGGAAAGCATGTAGAAGGGACACCTGACCCAGTCTGGAGGTCTCACCAAGCCCAGATGGCCTCCTTCTGTCGGCAGTGATTTATAGAGCACTGAAAGTACCTGGTTCAGGGGAAGTGCTGAGAGAAACTACAGACAGGAAGCTCAGCCTGTGGGTTTCAGGTAATTCAATCTCAGAACTAACAGATGGGAAATATTTGGACAAGACTATTGGGCATGCCCAGTAAACAGGGACCCTGGAAAGTTGGCAAAGGTGCTGAAACTGAATGCCAGATATTGATTATACCTATTTCTCATCCCCCTCAAAACCCACCATCATTTTTCCAAATCTCCTCCACTCCTGTAAAGACTAGCGGAGGTCCAGGGCCCCTGTCTGGAATGAAGGTCTAGGGAAGGACAATAGGTAGGCCAGCTAGTAAAGCACTGGGCCAGGTGCCAGGAAGCCAAGTCCCACTCATTCACTGTGACCTTGGGCAGGTCTCTTCCCTTGTCTCAGCCTCAGTGTCCTCCATCTGCAAAGTGAGAGATCAGAAGACCTGGCCATGTGCCCAGGAGTCTACATTGTTAACAAGCTCCCCCACATGATTATGGTGCAGGGTGAGTTTTGAGAACTAATGGGCTATGTGAGTCTACCTTTTTTCCTCATGGTGGACAAGGGCTACATGCCCAACTGGCCTGGACCTGGTTCCATCAAGTCCTCCATGGCACAAAGCACACTATCTGGCGTAGAGAAGCCCCTCATAGTGGGCTAATGGCTTTCTCTTTCCTCCCTCCCCTCATGTCACCACCCCCAACATTCTCCCAGTGGGGCTGCAGCCCCATAACCATGGGTTAATGGTGGCCACTCACCATACCTGTGAACATCTCACAGAAGTAGGGGCTGCAGGCTGCCAGGACCACACGGTGGGCTTCTATCTCGACATCTTCTGCCACAATCATCACGTCACACAACAGCTGTTTACTGTAAGACACCAGTGAGAGGACAGGATGGGTTGCAGCAAGGACACCTACCCTCATCTTACAAGGGTATTTTTTTCTCCCACCCAGATTTCACACTATCACTATACAAAGCTGTCACAGGGACTTGCTCTATCTTGAGTTAGGGAGGGGGGTGGATTCATTGACTTTTCCAAGTCCCTGATAAACCTGACATTCATGCTTTCCTAAGGTCCATGGAGAGATCCAACTACTCTGTGGCTGTAAATTCCAGGCTGCTTCATTTGTCTTCACCTCTCTGTTCCCCAATTCTATCAGTTCAGATTGAGAAGTAGGGGTTTTGCGGCTCAGGGAACAGTGGCAAAAGCTTGGGGCTGTCATTCGAGTGACTGAATGAATGCTGAGGAACATGAGCATACCAGTGAAGTGTGTCACCAGCAAGACCAAGTACTAACAATTCCCCCAAGGGACCCACTGTATATGCAACACCAGTAAGAGGCAAGCCGGCCTTAGGTATTTCTCTTTCGACCCAGATTTAACGCTTTCAACAAGAAGACTCTGCCTGCAAACACAGTGCTCCCTAAAGACCCTGTGCAAACTCCAATCACTGTAATTATTAAAAATACTGTAATTACCTTTCTGTTTGTCACCCCAACTCAGAAAGGGACTTGTCTTATTTAATGTTGTATCCTAGACACCTGGCTGCATACCTAGCACATAGTAGACCCTAAATTTTTACTGAATAAATAAATTAATGAATGAAATGTGATCAATCCACATTCATAGACAGAATAGGGATCTGACTACTTTAGAGATTGATAGGGTGCCACAAGCTCCCATCAACCCAAGAATTTTTCCTTCATCATTCTTCTAAGCTCTTATCATGCCTGTTATCAATATAATAGTTAATATTTATTGAGTTATATGTGCCAGGCACTGTTCTAAGCACTTTTTTACACATATTACTTCATCCTCTCTACCACCCCATGAGATAGGGCTAATTGTTATGCCTATATTGAAAATGAAGAAACTGAGGTCCAGAGAAGTAATTTTCCCAAGGTCACACAGAAAAGGAACAGTGGAAACAGGATTTAAATGAAGGCAGCTGAAGCCCAGAACCCATGCTCTTCATTGGTATCCTGATCACCACTCATCCCTCCTTGAGATTAAAGCACTAGAGAGAGTAGGAAAGACAAGGAGGACAAACACACTTCAACTGTGAGCCAATGGTAGTGGTTACTTGGCACACTACCCTGGTTTGAGAAGGCTGAGGTCATGACTAGATTCTGTGTGAGAATGTTGAGGCCAATTAATGAGTCTGCCATGGTTGACGGATGGAAGAAAAGCTACATATTTGCTATCTCTGGTGTAGCACACTAAGTCACTGTCAACTACTAAGATATTTGTTTAGGTTCACATATCAGAGAAATAGAATCATAAGGCCTGAAAAGGCTGGAGCTGCAAATGCTACTAGAGATCATCTGGTCTATGAAACTCAGAGAGGTGAAAAGATGCCCAAAGCCACAGAAGTCTAAGTCTTGAATCCAGTTCTCCTTACTCCAGACACAGTGACTTTTCCATGGTATCACAATGCCTCATGATTGGCTGACATTCAGAATGAGAAAAGACAGAAGACAGGTTAGCCCCAACAGGGAGAAGTGGACAGGAAGTAGAATAAAGTATCGTTAAGGAGGCTTCCTGGAAGGGTGAGACCTTTGGACAGCAAGAGGCAAAACCGGGGGATTGAGACCTTACCCTGCAGTGGACAGCAGACCTTAATCACCAACTGTATCAGGATAAACCAGTGCAACCAGGAACAGAACTGGCTCTTCCCCTAACTGGCTATGAGACCATGGGCAAATAAGCTCACCCCATTTTTCTCACCTGTTTTAGCTGCCTTTGGGACATATATCATGGGGGCCAAATGGGATTACAGGTGCCATCTGAAAATGGCCTTTAGTCTCATTAAATTTTATT
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Task1_train_9524
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A sequence alteration has been identified in MYOT, PKD2L2-DT (myotilin| PKD2L2 divergent transcript) on Chromosome 5. Is it disease-inducing or harmless?
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Pathogenic; Myofibrillar myopathy 3
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TAAACCGATAACTACAAAACTACTTGCCTTGAAATAGACTTTTTTTTTAGATCTACTCAAGGCCCTCCTTCAGGATGTTTTTCCCCAACAATTTAAATGCCTAAAGTAGTTCATTTCTAAAATGCATTCTAGTTTAATGTATTTGTGTTCATAAACTTGAAATTAAGGAATATTTAACTTTTTAAGTATTCTTTCTCAATAGCGTCTTTCTCTTGGCTGTTTAGTTGCATTTCTGTTTTTTCCTAAAATTGCTAGTTTTAATTTAACTCTAAACTACATAGGCAACTTTGAAATACTATTTTTTGAAGGTATCCTATTATTTAGGATGAAACTCTTTGGTCTGGAAAAGTTTTATTAACATTTTATCCAAGACAGTAACTAAAATAATTAGAAGACTTCGTTTCAATGATGACAAACAATTTGGTTAATTTTTCAGTTAAAAGTTTGATTTGTCATTATCTCAGTATTGGCTTATACCAGATGAAACAAAATAGGCAAATGTATTTTGAATCAATTTATCTGATATTTTCAATGAAAACAGGATTAGTGTGAAAACAATTTATAGGACTAGTCTTTGTGTGTAATGTCTATATATAGTCCCGCTTAGGTTTACCATACTAATGGAAAAAAAATCAGAGACAAATATAATCCTTCAAGGTTGATTTTCATGGCAAATGTTTCATCTGAGAAAAAATGAGGATGTACTGTAGGAAGGCAGGAGGCCCACTACAGAGCTAAGTAGGAGGAATGGCACCTGTCTTTTCTTGGTAAGGTATAGACTAGTTTCATATGTGTCTTATTTACTTCTATGCTTCCTGTTTGCCATTTGAAAAGAAAAAGTAAAAGAGCTAAAGCAATTTCAAAATTAGTCTGAGATCTCCAAAGGTGTGGCAAAAAAAAGAAAAAAAAGACCAAAAAACAAAATTAGTCTAAAATACATACTAAACAAATAATAAAAAGTAAAACTCTAGATAATTAAAAGAACATCAAGACCAACAACTAGGAAGTATAATCTAAAAATAACAGAATTATAAGGTATGATTCTGTTTAAAAATACATAATAAAAACAGAAAAATGTATAAGTGGCTCTGGAATGCAGCCTGTAACATATGTTCTACACAAACATATACACACAGTCACTCCTTAATTAATATCTAGTTTAGTAATATGGTCAATTTGGAATCAAGGAGAGAAAAAGAAGCAGTGAATTGTAAGGTTAAAAAGCAATCCACTCAGCTGGGTGCGGGGGCTCATACCTGTAACTCCAGCACCAAGGGGGGCTGAGGCGGGAGGATTGCTTGCAGCTAAGAGTTTAAGACTAGTCTAGGCAACATAGTGAAACCCTGTCTCTACTAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAAAGAAAAATTAGCCAGGCGTGGTGGCTTATATGTGTAGTCCTTACTCTGGAGGGTGCAGTGGAAGGATCGCTTGTGCCCAGGAGTTGGAGGGGCTACAGTGAGCTATGTTCGCCTGGGCGATTAAGCAAGACACACACACACACACACACACACACACACACACACACAAAAGGAAGGAAGGAAAGAAAGGAAAAGAAAAAGCACATCAGATCTGAAAGATGTCAAATAAACAATGTTATTGTTTAAGCAAATATTGTAACAATTATTTTCTCCTTTTGAAGGAACAATATTCTTCAAGAGAAGGTCACTCTACCAAAGCCAGGAGCACAGTATTCTCAGGATCTCAACAAGGAAGAGCAGACCAAGGTTGCTTCTGATTCCTTACAACCTTCCGTAATTCCAGGCTTGTGGCCCCAAATTCAGGGCCCCACCCTTCCAGGAACAAATCATTATAGTAATAATTTGCCTTCATCTTCCATATACCAACTAAGCATGTTTAACTACGAACGTCCAAAACACTTCATCCAGTCCCAAAACCCATGTGGCTCCAGATTGCAGCCTCCTGGACCAGAAACCTCCAGCTTCTCTAGCCAGACCAAACAGTCTTCCATTATCATCCAGCCCCGCCAGTGTACAGAGCAAAGATTTTCTGCCTCCTCAACACTGAGCTCTCACATCACCATGTCCTCCTCTGCTTTCCCTGCTTCTCCCCAGCAGCATGCTGGCTCCAACCCAGGCCAAAGGGTTACAACCACCTATAACCAGTCCCCAGCCAGCTTCCTCAGCTCCATATTACCATCACAGCCTGATTACAATAGCAGTAAAATCCCTTCCGCTATGGATTCCAAGTAAGTGAATTTTTATATACCGCATGTACAGTGAACTTATATCTGAGGAGTTTGCGAGGGGGTAGGAGTTTTGGGGGTATGCTGCAGTTCATTCTTTACTATCTAAAAAGGCAATGTGACCTTACAGTCTCATTCCATAGTTCTACTAGAACATGCTGAACCAGGGTACTGGCAATAAGAGGTCATCTGACTATTCTCCAGTGTCCAAGCTGCGCTGAATCCAATTACCTATTACCCCATAAAATTATTTACCCATTATTTTCCATCTTTGAAAAAAATAATTTCTCACATACCAAAGAACAATGAACTTTTCCTTTAGTTCTAAGCTAAGCTCCTCATGCTGTAAATTTAATTCCTCTGGTTCTGGGCTTGGCTAAGATGAACACCTGTCTGCTCTTCTTCAGATAGGATTTCCTCTCACATAAGCAGAGGCTATTAAGTTTCTTCTCAGTCTTTTCTTCCTATCCCTTTTCCCCTCTAATCCTGAATATCCACTTGGCTGAAAAATTTTTAAATTAACAAATAAAAAAACCTGGAACTCAGACCCTGGAATGTATACATTTTCCTTACTGTGATCAGAAGAAGGAAGGCCTGAATAGATGAAGGCTTATGACCTTACGGTTTCGTTTGGTAATTAAAACCACACCTTGTTCAAATTAGTTGGGTTGATCTAAATACAGGGACTAATACTGGGGCCTTATGTAAACATGTGCTATTTCCACTACCCTAAGACTGTCCTAGGAGAACCTAGTATGAAAAAGGAGATGGTGGTTATGCTTTTTTTAAAACATGAACTGAATACCTTGTGCTTATGCAAACTATTGGCTATCAGCTTTCCTGTTCCTTGGCTGGCTGGAACATCAGAGAATTAAATCAGAGGCATCTCAAAAATTGTCTGATGGAATATGTTTTGTTGCAGGCTTACTAATACATTCACTCAACTCTGCTAATTTCTCGCAGTCTTCTCTAGAGGCTAATTTTTCTACAAACTCCTATTATTGGTGACAACTTTGGAAATCTAGTTGAACTGCCTATAGCAATTCAACTTGCAAAAAAAAACCTTTTCAATATTTTAAAAAATAAAAATCAGGAAAACCAAAAACATTTGTTAGAATCCTATAGATATTAAGTTGAACCATTTGAAATGGCTGATAGTCAACTGTTTTTGACCTACAAAAATGGCATTCTCACAGGTTTAACCTAATATTTTAAAAGGATGTTTTTAATAATTGAGAGCCCTTTCTTTCTCTTCCCTCCCAAATTCCCTTTATAATATATAGATCTTTCTTGGTTATATTTACCCAGATGATCATTTTCCATCTAGCTTTCTATTATTTCCATATTTCCTATATTAGCATTTTAAAATCTAGAAGAATTTTTTGTTTTTCTTAGTAAAGTCTTTCAATCATATTTCAAATTACTGCCCAGAAAAGAAAGTGATCAAAGACTTAAGAAAAGAGAAAGGCAAAAACATAATAAGAAATAAAGCCTAGGAGGTCCCCAAACCAGAGATCAAAGATCCACTTTAGCTGTTCCATTTTCAGCAACCACAGATAACTCTTTAATCTTCCCATAGCTACTTGATACCCATTTCGTGTCCAGCTGTGCAGAGTGGAAAGCCCTGGCCCTTTGAACATTTGTGCACAACTCCCTCGTTATTATGGGCTCCAGTTCGCCCTGACTTCCAAAATAATCCCTTGGATTCTGACCTAGAGAAATTTGAAAGCTTTATTTAGATTTTCATCAATAGGAAGCTCTTAGGCAAACATTTTACCCAGTTGATCAAACCACAGACTGAAAACTGAGGGGAACTCAATTGTTCCTTCCAAAAAGCTTGCTATGTGAAATTCAGCAAGCACTT
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TAAACCGATAACTACAAAACTACTTGCCTTGAAATAGACTTTTTTTTTAGATCTACTCAAGGCCCTCCTTCAGGATGTTTTTCCCCAACAATTTAAATGCCTAAAGTAGTTCATTTCTAAAATGCATTCTAGTTTAATGTATTTGTGTTCATAAACTTGAAATTAAGGAATATTTAACTTTTTAAGTATTCTTTCTCAATAGCGTCTTTCTCTTGGCTGTTTAGTTGCATTTCTGTTTTTTCCTAAAATTGCTAGTTTTAATTTAACTCTAAACTACATAGGCAACTTTGAAATACTATTTTTTGAAGGTATCCTATTATTTAGGATGAAACTCTTTGGTCTGGAAAAGTTTTATTAACATTTTATCCAAGACAGTAACTAAAATAATTAGAAGACTTCGTTTCAATGATGACAAACAATTTGGTTAATTTTTCAGTTAAAAGTTTGATTTGTCATTATCTCAGTATTGGCTTATACCAGATGAAACAAAATAGGCAAATGTATTTTGAATCAATTTATCTGATATTTTCAATGAAAACAGGATTAGTGTGAAAACAATTTATAGGACTAGTCTTTGTGTGTAATGTCTATATATAGTCCCGCTTAGGTTTACCATACTAATGGAAAAAAAATCAGAGACAAATATAATCCTTCAAGGTTGATTTTCATGGCAAATGTTTCATCTGAGAAAAAATGAGGATGTACTGTAGGAAGGCAGGAGGCCCACTACAGAGCTAAGTAGGAGGAATGGCACCTGTCTTTTCTTGGTAAGGTATAGACTAGTTTCATATGTGTCTTATTTACTTCTATGCTTCCTGTTTGCCATTTGAAAAGAAAAAGTAAAAGAGCTAAAGCAATTTCAAAATTAGTCTGAGATCTCCAAAGGTGTGGCAAAAAAAAGAAAAAAAAGACCAAAAAACAAAATTAGTCTAAAATACATACTAAACAAATAATAAAAAGTAAAACTCTAGATAATTAAAAGAACATCAAGACCAACAACTAGGAAGTATAATCTAAAAATAACAGAATTATAAGGTATGATTCTGTTTAAAAATACATAATAAAAACAGAAAAATGTATAAGTGGCTCTGGAATGCAGCCTGTAACATATGTTCTACACAAACATATACACACAGTCACTCCTTAATTAATATCTAGTTTAGTAATATGGTCAATTTGGAATCAAGGAGAGAAAAAGAAGCAGTGAATTGTAAGGTTAAAAAGCAATCCACTCAGCTGGGTGCGGGGGCTCATACCTGTAACTCCAGCACCAAGGGGGGCTGAGGCGGGAGGATTGCTTGCAGCTAAGAGTTTAAGACTAGTCTAGGCAACATAGTGAAACCCTGTCTCTACTAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAAAGAAAAATTAGCCAGGCGTGGTGGCTTATATGTGTAGTCCTTACTCTGGAGGGTGCAGTGGAAGGATCGCTTGTGCCCAGGAGTTGGAGGGGCTACAGTGAGCTATGTTCGCCTGGGCGATTAAGCAAGACACACACACACACACACACACACACACACACACACACAAAAGGAAGGAAGGAAAGAAAGGAAAAGAAAAAGCACATCAGATCTGAAAGATGTCAAATAAACAATGTTATTGTTTAAGCAAATATTGTAACAATTATTTTCTCCTTTTGAAGGAACAATATTCTTCAAGAGAAGGTCACTCTACCAAAGCCAGGAGCACAGTATTCTCAGGATCTCAACAAGGAAGAGCAGACCAAGGTTGCTTCTGATTCCTTACAACCTTCCGTAATTCCAGGCTTGTGGCCCCAAATTCAGGGCCCCACCCTTCCAGGAACAAATCATTATAGTAATAATTTGCCTTCATCTTCCATATACCAACTAAGCATGTTTAACTACGAACGTCCAAAACACTTCATCCAGTCCCAAAACCCATGTGGCTCCAGATTGCAGCCTCCTGGACCAGAAACCTCCAGCTTCTCTAGCCAGACCAAACAGTCTTCCATTATCATCCAGCCCCGCCAGTGTACAGAGCAAAGATTTTCTGCCTCCTCAATACTGAGCTCTCACATCACCATGTCCTCCTCTGCTTTCCCTGCTTCTCCCCAGCAGCATGCTGGCTCCAACCCAGGCCAAAGGGTTACAACCACCTATAACCAGTCCCCAGCCAGCTTCCTCAGCTCCATATTACCATCACAGCCTGATTACAATAGCAGTAAAATCCCTTCCGCTATGGATTCCAAGTAAGTGAATTTTTATATACCGCATGTACAGTGAACTTATATCTGAGGAGTTTGCGAGGGGGTAGGAGTTTTGGGGGTATGCTGCAGTTCATTCTTTACTATCTAAAAAGGCAATGTGACCTTACAGTCTCATTCCATAGTTCTACTAGAACATGCTGAACCAGGGTACTGGCAATAAGAGGTCATCTGACTATTCTCCAGTGTCCAAGCTGCGCTGAATCCAATTACCTATTACCCCATAAAATTATTTACCCATTATTTTCCATCTTTGAAAAAAATAATTTCTCACATACCAAAGAACAATGAACTTTTCCTTTAGTTCTAAGCTAAGCTCCTCATGCTGTAAATTTAATTCCTCTGGTTCTGGGCTTGGCTAAGATGAACACCTGTCTGCTCTTCTTCAGATAGGATTTCCTCTCACATAAGCAGAGGCTATTAAGTTTCTTCTCAGTCTTTTCTTCCTATCCCTTTTCCCCTCTAATCCTGAATATCCACTTGGCTGAAAAATTTTTAAATTAACAAATAAAAAAACCTGGAACTCAGACCCTGGAATGTATACATTTTCCTTACTGTGATCAGAAGAAGGAAGGCCTGAATAGATGAAGGCTTATGACCTTACGGTTTCGTTTGGTAATTAAAACCACACCTTGTTCAAATTAGTTGGGTTGATCTAAATACAGGGACTAATACTGGGGCCTTATGTAAACATGTGCTATTTCCACTACCCTAAGACTGTCCTAGGAGAACCTAGTATGAAAAAGGAGATGGTGGTTATGCTTTTTTTAAAACATGAACTGAATACCTTGTGCTTATGCAAACTATTGGCTATCAGCTTTCCTGTTCCTTGGCTGGCTGGAACATCAGAGAATTAAATCAGAGGCATCTCAAAAATTGTCTGATGGAATATGTTTTGTTGCAGGCTTACTAATACATTCACTCAACTCTGCTAATTTCTCGCAGTCTTCTCTAGAGGCTAATTTTTCTACAAACTCCTATTATTGGTGACAACTTTGGAAATCTAGTTGAACTGCCTATAGCAATTCAACTTGCAAAAAAAAACCTTTTCAATATTTTAAAAAATAAAAATCAGGAAAACCAAAAACATTTGTTAGAATCCTATAGATATTAAGTTGAACCATTTGAAATGGCTGATAGTCAACTGTTTTTGACCTACAAAAATGGCATTCTCACAGGTTTAACCTAATATTTTAAAAGGATGTTTTTAATAATTGAGAGCCCTTTCTTTCTCTTCCCTCCCAAATTCCCTTTATAATATATAGATCTTTCTTGGTTATATTTACCCAGATGATCATTTTCCATCTAGCTTTCTATTATTTCCATATTTCCTATATTAGCATTTTAAAATCTAGAAGAATTTTTTGTTTTTCTTAGTAAAGTCTTTCAATCATATTTCAAATTACTGCCCAGAAAAGAAAGTGATCAAAGACTTAAGAAAAGAGAAAGGCAAAAACATAATAAGAAATAAAGCCTAGGAGGTCCCCAAACCAGAGATCAAAGATCCACTTTAGCTGTTCCATTTTCAGCAACCACAGATAACTCTTTAATCTTCCCATAGCTACTTGATACCCATTTCGTGTCCAGCTGTGCAGAGTGGAAAGCCCTGGCCCTTTGAACATTTGTGCACAACTCCCTCGTTATTATGGGCTCCAGTTCGCCCTGACTTCCAAAATAATCCCTTGGATTCTGACCTAGAGAAATTTGAAAGCTTTATTTAGATTTTCATCAATAGGAAGCTCTTAGGCAAACATTTTACCCAGTTGATCAAACCACAGACTGAAAACTGAGGGGAACTCAATTGTTCCTTCCAAAAAGCTTGCTATGTGAAATTCAGCAAGCACTT
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Task1_train_9525
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An alteration has been detected in MYOT, PKD2L2-DT (myotilin| PKD2L2 divergent transcript) on Chromosome 5. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Myofibrillar myopathy 3
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AACTACAAAACTACTTGCCTTGAAATAGACTTTTTTTTTAGATCTACTCAAGGCCCTCCTTCAGGATGTTTTTCCCCAACAATTTAAATGCCTAAAGTAGTTCATTTCTAAAATGCATTCTAGTTTAATGTATTTGTGTTCATAAACTTGAAATTAAGGAATATTTAACTTTTTAAGTATTCTTTCTCAATAGCGTCTTTCTCTTGGCTGTTTAGTTGCATTTCTGTTTTTTCCTAAAATTGCTAGTTTTAATTTAACTCTAAACTACATAGGCAACTTTGAAATACTATTTTTTGAAGGTATCCTATTATTTAGGATGAAACTCTTTGGTCTGGAAAAGTTTTATTAACATTTTATCCAAGACAGTAACTAAAATAATTAGAAGACTTCGTTTCAATGATGACAAACAATTTGGTTAATTTTTCAGTTAAAAGTTTGATTTGTCATTATCTCAGTATTGGCTTATACCAGATGAAACAAAATAGGCAAATGTATTTTGAATCAATTTATCTGATATTTTCAATGAAAACAGGATTAGTGTGAAAACAATTTATAGGACTAGTCTTTGTGTGTAATGTCTATATATAGTCCCGCTTAGGTTTACCATACTAATGGAAAAAAAATCAGAGACAAATATAATCCTTCAAGGTTGATTTTCATGGCAAATGTTTCATCTGAGAAAAAATGAGGATGTACTGTAGGAAGGCAGGAGGCCCACTACAGAGCTAAGTAGGAGGAATGGCACCTGTCTTTTCTTGGTAAGGTATAGACTAGTTTCATATGTGTCTTATTTACTTCTATGCTTCCTGTTTGCCATTTGAAAAGAAAAAGTAAAAGAGCTAAAGCAATTTCAAAATTAGTCTGAGATCTCCAAAGGTGTGGCAAAAAAAAGAAAAAAAAGACCAAAAAACAAAATTAGTCTAAAATACATACTAAACAAATAATAAAAAGTAAAACTCTAGATAATTAAAAGAACATCAAGACCAACAACTAGGAAGTATAATCTAAAAATAACAGAATTATAAGGTATGATTCTGTTTAAAAATACATAATAAAAACAGAAAAATGTATAAGTGGCTCTGGAATGCAGCCTGTAACATATGTTCTACACAAACATATACACACAGTCACTCCTTAATTAATATCTAGTTTAGTAATATGGTCAATTTGGAATCAAGGAGAGAAAAAGAAGCAGTGAATTGTAAGGTTAAAAAGCAATCCACTCAGCTGGGTGCGGGGGCTCATACCTGTAACTCCAGCACCAAGGGGGGCTGAGGCGGGAGGATTGCTTGCAGCTAAGAGTTTAAGACTAGTCTAGGCAACATAGTGAAACCCTGTCTCTACTAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAAAGAAAAATTAGCCAGGCGTGGTGGCTTATATGTGTAGTCCTTACTCTGGAGGGTGCAGTGGAAGGATCGCTTGTGCCCAGGAGTTGGAGGGGCTACAGTGAGCTATGTTCGCCTGGGCGATTAAGCAAGACACACACACACACACACACACACACACACACACACACAAAAGGAAGGAAGGAAAGAAAGGAAAAGAAAAAGCACATCAGATCTGAAAGATGTCAAATAAACAATGTTATTGTTTAAGCAAATATTGTAACAATTATTTTCTCCTTTTGAAGGAACAATATTCTTCAAGAGAAGGTCACTCTACCAAAGCCAGGAGCACAGTATTCTCAGGATCTCAACAAGGAAGAGCAGACCAAGGTTGCTTCTGATTCCTTACAACCTTCCGTAATTCCAGGCTTGTGGCCCCAAATTCAGGGCCCCACCCTTCCAGGAACAAATCATTATAGTAATAATTTGCCTTCATCTTCCATATACCAACTAAGCATGTTTAACTACGAACGTCCAAAACACTTCATCCAGTCCCAAAACCCATGTGGCTCCAGATTGCAGCCTCCTGGACCAGAAACCTCCAGCTTCTCTAGCCAGACCAAACAGTCTTCCATTATCATCCAGCCCCGCCAGTGTACAGAGCAAAGATTTTCTGCCTCCTCAACACTGAGCTCTCACATCACCATGTCCTCCTCTGCTTTCCCTGCTTCTCCCCAGCAGCATGCTGGCTCCAACCCAGGCCAAAGGGTTACAACCACCTATAACCAGTCCCCAGCCAGCTTCCTCAGCTCCATATTACCATCACAGCCTGATTACAATAGCAGTAAAATCCCTTCCGCTATGGATTCCAAGTAAGTGAATTTTTATATACCGCATGTACAGTGAACTTATATCTGAGGAGTTTGCGAGGGGGTAGGAGTTTTGGGGGTATGCTGCAGTTCATTCTTTACTATCTAAAAAGGCAATGTGACCTTACAGTCTCATTCCATAGTTCTACTAGAACATGCTGAACCAGGGTACTGGCAATAAGAGGTCATCTGACTATTCTCCAGTGTCCAAGCTGCGCTGAATCCAATTACCTATTACCCCATAAAATTATTTACCCATTATTTTCCATCTTTGAAAAAAATAATTTCTCACATACCAAAGAACAATGAACTTTTCCTTTAGTTCTAAGCTAAGCTCCTCATGCTGTAAATTTAATTCCTCTGGTTCTGGGCTTGGCTAAGATGAACACCTGTCTGCTCTTCTTCAGATAGGATTTCCTCTCACATAAGCAGAGGCTATTAAGTTTCTTCTCAGTCTTTTCTTCCTATCCCTTTTCCCCTCTAATCCTGAATATCCACTTGGCTGAAAAATTTTTAAATTAACAAATAAAAAAACCTGGAACTCAGACCCTGGAATGTATACATTTTCCTTACTGTGATCAGAAGAAGGAAGGCCTGAATAGATGAAGGCTTATGACCTTACGGTTTCGTTTGGTAATTAAAACCACACCTTGTTCAAATTAGTTGGGTTGATCTAAATACAGGGACTAATACTGGGGCCTTATGTAAACATGTGCTATTTCCACTACCCTAAGACTGTCCTAGGAGAACCTAGTATGAAAAAGGAGATGGTGGTTATGCTTTTTTTAAAACATGAACTGAATACCTTGTGCTTATGCAAACTATTGGCTATCAGCTTTCCTGTTCCTTGGCTGGCTGGAACATCAGAGAATTAAATCAGAGGCATCTCAAAAATTGTCTGATGGAATATGTTTTGTTGCAGGCTTACTAATACATTCACTCAACTCTGCTAATTTCTCGCAGTCTTCTCTAGAGGCTAATTTTTCTACAAACTCCTATTATTGGTGACAACTTTGGAAATCTAGTTGAACTGCCTATAGCAATTCAACTTGCAAAAAAAAACCTTTTCAATATTTTAAAAAATAAAAATCAGGAAAACCAAAAACATTTGTTAGAATCCTATAGATATTAAGTTGAACCATTTGAAATGGCTGATAGTCAACTGTTTTTGACCTACAAAAATGGCATTCTCACAGGTTTAACCTAATATTTTAAAAGGATGTTTTTAATAATTGAGAGCCCTTTCTTTCTCTTCCCTCCCAAATTCCCTTTATAATATATAGATCTTTCTTGGTTATATTTACCCAGATGATCATTTTCCATCTAGCTTTCTATTATTTCCATATTTCCTATATTAGCATTTTAAAATCTAGAAGAATTTTTTGTTTTTCTTAGTAAAGTCTTTCAATCATATTTCAAATTACTGCCCAGAAAAGAAAGTGATCAAAGACTTAAGAAAAGAGAAAGGCAAAAACATAATAAGAAATAAAGCCTAGGAGGTCCCCAAACCAGAGATCAAAGATCCACTTTAGCTGTTCCATTTTCAGCAACCACAGATAACTCTTTAATCTTCCCATAGCTACTTGATACCCATTTCGTGTCCAGCTGTGCAGAGTGGAAAGCCCTGGCCCTTTGAACATTTGTGCACAACTCCCTCGTTATTATGGGCTCCAGTTCGCCCTGACTTCCAAAATAATCCCTTGGATTCTGACCTAGAGAAATTTGAAAGCTTTATTTAGATTTTCATCAATAGGAAGCTCTTAGGCAAACATTTTACCCAGTTGATCAAACCACAGACTGAAAACTGAGGGGAACTCAATTGTTCCTTCCAAAAAGCTTGCTATGTGAAATTCAGCAAGCACTTTACCTACCC
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AACTACAAAACTACTTGCCTTGAAATAGACTTTTTTTTTAGATCTACTCAAGGCCCTCCTTCAGGATGTTTTTCCCCAACAATTTAAATGCCTAAAGTAGTTCATTTCTAAAATGCATTCTAGTTTAATGTATTTGTGTTCATAAACTTGAAATTAAGGAATATTTAACTTTTTAAGTATTCTTTCTCAATAGCGTCTTTCTCTTGGCTGTTTAGTTGCATTTCTGTTTTTTCCTAAAATTGCTAGTTTTAATTTAACTCTAAACTACATAGGCAACTTTGAAATACTATTTTTTGAAGGTATCCTATTATTTAGGATGAAACTCTTTGGTCTGGAAAAGTTTTATTAACATTTTATCCAAGACAGTAACTAAAATAATTAGAAGACTTCGTTTCAATGATGACAAACAATTTGGTTAATTTTTCAGTTAAAAGTTTGATTTGTCATTATCTCAGTATTGGCTTATACCAGATGAAACAAAATAGGCAAATGTATTTTGAATCAATTTATCTGATATTTTCAATGAAAACAGGATTAGTGTGAAAACAATTTATAGGACTAGTCTTTGTGTGTAATGTCTATATATAGTCCCGCTTAGGTTTACCATACTAATGGAAAAAAAATCAGAGACAAATATAATCCTTCAAGGTTGATTTTCATGGCAAATGTTTCATCTGAGAAAAAATGAGGATGTACTGTAGGAAGGCAGGAGGCCCACTACAGAGCTAAGTAGGAGGAATGGCACCTGTCTTTTCTTGGTAAGGTATAGACTAGTTTCATATGTGTCTTATTTACTTCTATGCTTCCTGTTTGCCATTTGAAAAGAAAAAGTAAAAGAGCTAAAGCAATTTCAAAATTAGTCTGAGATCTCCAAAGGTGTGGCAAAAAAAAGAAAAAAAAGACCAAAAAACAAAATTAGTCTAAAATACATACTAAACAAATAATAAAAAGTAAAACTCTAGATAATTAAAAGAACATCAAGACCAACAACTAGGAAGTATAATCTAAAAATAACAGAATTATAAGGTATGATTCTGTTTAAAAATACATAATAAAAACAGAAAAATGTATAAGTGGCTCTGGAATGCAGCCTGTAACATATGTTCTACACAAACATATACACACAGTCACTCCTTAATTAATATCTAGTTTAGTAATATGGTCAATTTGGAATCAAGGAGAGAAAAAGAAGCAGTGAATTGTAAGGTTAAAAAGCAATCCACTCAGCTGGGTGCGGGGGCTCATACCTGTAACTCCAGCACCAAGGGGGGCTGAGGCGGGAGGATTGCTTGCAGCTAAGAGTTTAAGACTAGTCTAGGCAACATAGTGAAACCCTGTCTCTACTAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAAAGAAAAATTAGCCAGGCGTGGTGGCTTATATGTGTAGTCCTTACTCTGGAGGGTGCAGTGGAAGGATCGCTTGTGCCCAGGAGTTGGAGGGGCTACAGTGAGCTATGTTCGCCTGGGCGATTAAGCAAGACACACACACACACACACACACACACACACACACACACAAAAGGAAGGAAGGAAAGAAAGGAAAAGAAAAAGCACATCAGATCTGAAAGATGTCAAATAAACAATGTTATTGTTTAAGCAAATATTGTAACAATTATTTTCTCCTTTTGAAGGAACAATATTCTTCAAGAGAAGGTCACTCTACCAAAGCCAGGAGCACAGTATTCTCAGGATCTCAACAAGGAAGAGCAGACCAAGGTTGCTTCTGATTCCTTACAACCTTCCGTAATTCCAGGCTTGTGGCCCCAAATTCAGGGCCCCACCCTTCCAGGAACAAATCATTATAGTAATAATTTGCCTTCATCTTCCATATACCAACTAAGCATGTTTAACTACGAACGTCCAAAACACTTCATCCAGTCCCAAAACCCATGTGGCTCCAGATTGCAGCCTCCTGGACCAGAAACCTCCAGCTTCTCTAGCCAGACCAAACAGTCTTCCATTATCATCCAGCCCCGCCAGTGTACAGAGCAAAGATTTTCTGCCTCCTCAACACTGAGCTGTCACATCACCATGTCCTCCTCTGCTTTCCCTGCTTCTCCCCAGCAGCATGCTGGCTCCAACCCAGGCCAAAGGGTTACAACCACCTATAACCAGTCCCCAGCCAGCTTCCTCAGCTCCATATTACCATCACAGCCTGATTACAATAGCAGTAAAATCCCTTCCGCTATGGATTCCAAGTAAGTGAATTTTTATATACCGCATGTACAGTGAACTTATATCTGAGGAGTTTGCGAGGGGGTAGGAGTTTTGGGGGTATGCTGCAGTTCATTCTTTACTATCTAAAAAGGCAATGTGACCTTACAGTCTCATTCCATAGTTCTACTAGAACATGCTGAACCAGGGTACTGGCAATAAGAGGTCATCTGACTATTCTCCAGTGTCCAAGCTGCGCTGAATCCAATTACCTATTACCCCATAAAATTATTTACCCATTATTTTCCATCTTTGAAAAAAATAATTTCTCACATACCAAAGAACAATGAACTTTTCCTTTAGTTCTAAGCTAAGCTCCTCATGCTGTAAATTTAATTCCTCTGGTTCTGGGCTTGGCTAAGATGAACACCTGTCTGCTCTTCTTCAGATAGGATTTCCTCTCACATAAGCAGAGGCTATTAAGTTTCTTCTCAGTCTTTTCTTCCTATCCCTTTTCCCCTCTAATCCTGAATATCCACTTGGCTGAAAAATTTTTAAATTAACAAATAAAAAAACCTGGAACTCAGACCCTGGAATGTATACATTTTCCTTACTGTGATCAGAAGAAGGAAGGCCTGAATAGATGAAGGCTTATGACCTTACGGTTTCGTTTGGTAATTAAAACCACACCTTGTTCAAATTAGTTGGGTTGATCTAAATACAGGGACTAATACTGGGGCCTTATGTAAACATGTGCTATTTCCACTACCCTAAGACTGTCCTAGGAGAACCTAGTATGAAAAAGGAGATGGTGGTTATGCTTTTTTTAAAACATGAACTGAATACCTTGTGCTTATGCAAACTATTGGCTATCAGCTTTCCTGTTCCTTGGCTGGCTGGAACATCAGAGAATTAAATCAGAGGCATCTCAAAAATTGTCTGATGGAATATGTTTTGTTGCAGGCTTACTAATACATTCACTCAACTCTGCTAATTTCTCGCAGTCTTCTCTAGAGGCTAATTTTTCTACAAACTCCTATTATTGGTGACAACTTTGGAAATCTAGTTGAACTGCCTATAGCAATTCAACTTGCAAAAAAAAACCTTTTCAATATTTTAAAAAATAAAAATCAGGAAAACCAAAAACATTTGTTAGAATCCTATAGATATTAAGTTGAACCATTTGAAATGGCTGATAGTCAACTGTTTTTGACCTACAAAAATGGCATTCTCACAGGTTTAACCTAATATTTTAAAAGGATGTTTTTAATAATTGAGAGCCCTTTCTTTCTCTTCCCTCCCAAATTCCCTTTATAATATATAGATCTTTCTTGGTTATATTTACCCAGATGATCATTTTCCATCTAGCTTTCTATTATTTCCATATTTCCTATATTAGCATTTTAAAATCTAGAAGAATTTTTTGTTTTTCTTAGTAAAGTCTTTCAATCATATTTCAAATTACTGCCCAGAAAAGAAAGTGATCAAAGACTTAAGAAAAGAGAAAGGCAAAAACATAATAAGAAATAAAGCCTAGGAGGTCCCCAAACCAGAGATCAAAGATCCACTTTAGCTGTTCCATTTTCAGCAACCACAGATAACTCTTTAATCTTCCCATAGCTACTTGATACCCATTTCGTGTCCAGCTGTGCAGAGTGGAAAGCCCTGGCCCTTTGAACATTTGTGCACAACTCCCTCGTTATTATGGGCTCCAGTTCGCCCTGACTTCCAAAATAATCCCTTGGATTCTGACCTAGAGAAATTTGAAAGCTTTATTTAGATTTTCATCAATAGGAAGCTCTTAGGCAAACATTTTACCCAGTTGATCAAACCACAGACTGAAAACTGAGGGGAACTCAATTGTTCCTTCCAAAAAGCTTGCTATGTGAAATTCAGCAAGCACTTTACCTACCC
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Task1_train_9526
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This gene mutation involves MYOT, PKD2L2-DT (myotilin| PKD2L2 divergent transcript) on Chromosome 5. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Myofibrillar myopathy 3
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TTCTAAAATGCATTCTAGTTTAATGTATTTGTGTTCATAAACTTGAAATTAAGGAATATTTAACTTTTTAAGTATTCTTTCTCAATAGCGTCTTTCTCTTGGCTGTTTAGTTGCATTTCTGTTTTTTCCTAAAATTGCTAGTTTTAATTTAACTCTAAACTACATAGGCAACTTTGAAATACTATTTTTTGAAGGTATCCTATTATTTAGGATGAAACTCTTTGGTCTGGAAAAGTTTTATTAACATTTTATCCAAGACAGTAACTAAAATAATTAGAAGACTTCGTTTCAATGATGACAAACAATTTGGTTAATTTTTCAGTTAAAAGTTTGATTTGTCATTATCTCAGTATTGGCTTATACCAGATGAAACAAAATAGGCAAATGTATTTTGAATCAATTTATCTGATATTTTCAATGAAAACAGGATTAGTGTGAAAACAATTTATAGGACTAGTCTTTGTGTGTAATGTCTATATATAGTCCCGCTTAGGTTTACCATACTAATGGAAAAAAAATCAGAGACAAATATAATCCTTCAAGGTTGATTTTCATGGCAAATGTTTCATCTGAGAAAAAATGAGGATGTACTGTAGGAAGGCAGGAGGCCCACTACAGAGCTAAGTAGGAGGAATGGCACCTGTCTTTTCTTGGTAAGGTATAGACTAGTTTCATATGTGTCTTATTTACTTCTATGCTTCCTGTTTGCCATTTGAAAAGAAAAAGTAAAAGAGCTAAAGCAATTTCAAAATTAGTCTGAGATCTCCAAAGGTGTGGCAAAAAAAAGAAAAAAAAGACCAAAAAACAAAATTAGTCTAAAATACATACTAAACAAATAATAAAAAGTAAAACTCTAGATAATTAAAAGAACATCAAGACCAACAACTAGGAAGTATAATCTAAAAATAACAGAATTATAAGGTATGATTCTGTTTAAAAATACATAATAAAAACAGAAAAATGTATAAGTGGCTCTGGAATGCAGCCTGTAACATATGTTCTACACAAACATATACACACAGTCACTCCTTAATTAATATCTAGTTTAGTAATATGGTCAATTTGGAATCAAGGAGAGAAAAAGAAGCAGTGAATTGTAAGGTTAAAAAGCAATCCACTCAGCTGGGTGCGGGGGCTCATACCTGTAACTCCAGCACCAAGGGGGGCTGAGGCGGGAGGATTGCTTGCAGCTAAGAGTTTAAGACTAGTCTAGGCAACATAGTGAAACCCTGTCTCTACTAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAAAGAAAAATTAGCCAGGCGTGGTGGCTTATATGTGTAGTCCTTACTCTGGAGGGTGCAGTGGAAGGATCGCTTGTGCCCAGGAGTTGGAGGGGCTACAGTGAGCTATGTTCGCCTGGGCGATTAAGCAAGACACACACACACACACACACACACACACACACACACACAAAAGGAAGGAAGGAAAGAAAGGAAAAGAAAAAGCACATCAGATCTGAAAGATGTCAAATAAACAATGTTATTGTTTAAGCAAATATTGTAACAATTATTTTCTCCTTTTGAAGGAACAATATTCTTCAAGAGAAGGTCACTCTACCAAAGCCAGGAGCACAGTATTCTCAGGATCTCAACAAGGAAGAGCAGACCAAGGTTGCTTCTGATTCCTTACAACCTTCCGTAATTCCAGGCTTGTGGCCCCAAATTCAGGGCCCCACCCTTCCAGGAACAAATCATTATAGTAATAATTTGCCTTCATCTTCCATATACCAACTAAGCATGTTTAACTACGAACGTCCAAAACACTTCATCCAGTCCCAAAACCCATGTGGCTCCAGATTGCAGCCTCCTGGACCAGAAACCTCCAGCTTCTCTAGCCAGACCAAACAGTCTTCCATTATCATCCAGCCCCGCCAGTGTACAGAGCAAAGATTTTCTGCCTCCTCAACACTGAGCTCTCACATCACCATGTCCTCCTCTGCTTTCCCTGCTTCTCCCCAGCAGCATGCTGGCTCCAACCCAGGCCAAAGGGTTACAACCACCTATAACCAGTCCCCAGCCAGCTTCCTCAGCTCCATATTACCATCACAGCCTGATTACAATAGCAGTAAAATCCCTTCCGCTATGGATTCCAAGTAAGTGAATTTTTATATACCGCATGTACAGTGAACTTATATCTGAGGAGTTTGCGAGGGGGTAGGAGTTTTGGGGGTATGCTGCAGTTCATTCTTTACTATCTAAAAAGGCAATGTGACCTTACAGTCTCATTCCATAGTTCTACTAGAACATGCTGAACCAGGGTACTGGCAATAAGAGGTCATCTGACTATTCTCCAGTGTCCAAGCTGCGCTGAATCCAATTACCTATTACCCCATAAAATTATTTACCCATTATTTTCCATCTTTGAAAAAAATAATTTCTCACATACCAAAGAACAATGAACTTTTCCTTTAGTTCTAAGCTAAGCTCCTCATGCTGTAAATTTAATTCCTCTGGTTCTGGGCTTGGCTAAGATGAACACCTGTCTGCTCTTCTTCAGATAGGATTTCCTCTCACATAAGCAGAGGCTATTAAGTTTCTTCTCAGTCTTTTCTTCCTATCCCTTTTCCCCTCTAATCCTGAATATCCACTTGGCTGAAAAATTTTTAAATTAACAAATAAAAAAACCTGGAACTCAGACCCTGGAATGTATACATTTTCCTTACTGTGATCAGAAGAAGGAAGGCCTGAATAGATGAAGGCTTATGACCTTACGGTTTCGTTTGGTAATTAAAACCACACCTTGTTCAAATTAGTTGGGTTGATCTAAATACAGGGACTAATACTGGGGCCTTATGTAAACATGTGCTATTTCCACTACCCTAAGACTGTCCTAGGAGAACCTAGTATGAAAAAGGAGATGGTGGTTATGCTTTTTTTAAAACATGAACTGAATACCTTGTGCTTATGCAAACTATTGGCTATCAGCTTTCCTGTTCCTTGGCTGGCTGGAACATCAGAGAATTAAATCAGAGGCATCTCAAAAATTGTCTGATGGAATATGTTTTGTTGCAGGCTTACTAATACATTCACTCAACTCTGCTAATTTCTCGCAGTCTTCTCTAGAGGCTAATTTTTCTACAAACTCCTATTATTGGTGACAACTTTGGAAATCTAGTTGAACTGCCTATAGCAATTCAACTTGCAAAAAAAAACCTTTTCAATATTTTAAAAAATAAAAATCAGGAAAACCAAAAACATTTGTTAGAATCCTATAGATATTAAGTTGAACCATTTGAAATGGCTGATAGTCAACTGTTTTTGACCTACAAAAATGGCATTCTCACAGGTTTAACCTAATATTTTAAAAGGATGTTTTTAATAATTGAGAGCCCTTTCTTTCTCTTCCCTCCCAAATTCCCTTTATAATATATAGATCTTTCTTGGTTATATTTACCCAGATGATCATTTTCCATCTAGCTTTCTATTATTTCCATATTTCCTATATTAGCATTTTAAAATCTAGAAGAATTTTTTGTTTTTCTTAGTAAAGTCTTTCAATCATATTTCAAATTACTGCCCAGAAAAGAAAGTGATCAAAGACTTAAGAAAAGAGAAAGGCAAAAACATAATAAGAAATAAAGCCTAGGAGGTCCCCAAACCAGAGATCAAAGATCCACTTTAGCTGTTCCATTTTCAGCAACCACAGATAACTCTTTAATCTTCCCATAGCTACTTGATACCCATTTCGTGTCCAGCTGTGCAGAGTGGAAAGCCCTGGCCCTTTGAACATTTGTGCACAACTCCCTCGTTATTATGGGCTCCAGTTCGCCCTGACTTCCAAAATAATCCCTTGGATTCTGACCTAGAGAAATTTGAAAGCTTTATTTAGATTTTCATCAATAGGAAGCTCTTAGGCAAACATTTTACCCAGTTGATCAAACCACAGACTGAAAACTGAGGGGAACTCAATTGTTCCTTCCAAAAAGCTTGCTATGTGAAATTCAGCAAGCACTTTACCTACCCAGTGCTTCAATTTTCTGGTCTGTAGCAATATTAAAGAGTTAGGTAATTAATGATAGAGAAAGGACCTATAAAGCAGTGTGCAAACGTACTATTAGTTTGTAAATG
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TTCTAAAATGCATTCTAGTTTAATGTATTTGTGTTCATAAACTTGAAATTAAGGAATATTTAACTTTTTAAGTATTCTTTCTCAATAGCGTCTTTCTCTTGGCTGTTTAGTTGCATTTCTGTTTTTTCCTAAAATTGCTAGTTTTAATTTAACTCTAAACTACATAGGCAACTTTGAAATACTATTTTTTGAAGGTATCCTATTATTTAGGATGAAACTCTTTGGTCTGGAAAAGTTTTATTAACATTTTATCCAAGACAGTAACTAAAATAATTAGAAGACTTCGTTTCAATGATGACAAACAATTTGGTTAATTTTTCAGTTAAAAGTTTGATTTGTCATTATCTCAGTATTGGCTTATACCAGATGAAACAAAATAGGCAAATGTATTTTGAATCAATTTATCTGATATTTTCAATGAAAACAGGATTAGTGTGAAAACAATTTATAGGACTAGTCTTTGTGTGTAATGTCTATATATAGTCCCGCTTAGGTTTACCATACTAATGGAAAAAAAATCAGAGACAAATATAATCCTTCAAGGTTGATTTTCATGGCAAATGTTTCATCTGAGAAAAAATGAGGATGTACTGTAGGAAGGCAGGAGGCCCACTACAGAGCTAAGTAGGAGGAATGGCACCTGTCTTTTCTTGGTAAGGTATAGACTAGTTTCATATGTGTCTTATTTACTTCTATGCTTCCTGTTTGCCATTTGAAAAGAAAAAGTAAAAGAGCTAAAGCAATTTCAAAATTAGTCTGAGATCTCCAAAGGTGTGGCAAAAAAAAGAAAAAAAAGACCAAAAAACAAAATTAGTCTAAAATACATACTAAACAAATAATAAAAAGTAAAACTCTAGATAATTAAAAGAACATCAAGACCAACAACTAGGAAGTATAATCTAAAAATAACAGAATTATAAGGTATGATTCTGTTTAAAAATACATAATAAAAACAGAAAAATGTATAAGTGGCTCTGGAATGCAGCCTGTAACATATGTTCTACACAAACATATACACACAGTCACTCCTTAATTAATATCTAGTTTAGTAATATGGTCAATTTGGAATCAAGGAGAGAAAAAGAAGCAGTGAATTGTAAGGTTAAAAAGCAATCCACTCAGCTGGGTGCGGGGGCTCATACCTGTAACTCCAGCACCAAGGGGGGCTGAGGCGGGAGGATTGCTTGCAGCTAAGAGTTTAAGACTAGTCTAGGCAACATAGTGAAACCCTGTCTCTACTAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAAAGAAAAATTAGCCAGGCGTGGTGGCTTATATGTGTAGTCCTTACTCTGGAGGGTGCAGTGGAAGGATCGCTTGTGCCCAGGAGTTGGAGGGGCTACAGTGAGCTATGTTCGCCTGGGCGATTAAGCAAGACACACACACACACACACACACACACACACACACACACAAAAGGAAGGAAGGAAAGAAAGGAAAAGAAAAAGCACATCAGATCTGAAAGATGTCAAATAAACAATGTTATTGTTTAAGCAAATATTGTAACAATTATTTTCTCCTTTTGAAGGAACAATATTCTTCAAGAGAAGGTCACTCTACCAAAGCCAGGAGCACAGTATTCTCAGGATCTCAACAAGGAAGAGCAGACCAAGGTTGCTTCTGATTCCTTACAACCTTCCGTAATTCCAGGCTTGTGGCCCCAAATTCAGGGCCCCACCCTTCCAGGAACAAATCATTATAGTAATAATTTGCCTTCATCTTCCATATACCAACTAAGCATGTTTAACTACGAACGTCCAAAACACTTCATCCAGTCCCAAAACCCATGTGGCTCCAGATTGCAGCCTCCTGGACCAGAAACCTCCAGCTTCTCTAGCCAGACCAAACAGTCTTCCATTATCATCCAGCCCCGCCAGTGTACAGAGCAAAGATTTTCTGCCTCCTCAACACTGAGCTCTCACATCACCATGTCCTCCTCTGCTTTCCCTGCTTCTCCCCAGCAGCATGCTGGCTCCAACCCAGGCCAAAGGGTTACAACCACCTATAACCAGTCCCCAGCCATCTTCCTCAGCTCCATATTACCATCACAGCCTGATTACAATAGCAGTAAAATCCCTTCCGCTATGGATTCCAAGTAAGTGAATTTTTATATACCGCATGTACAGTGAACTTATATCTGAGGAGTTTGCGAGGGGGTAGGAGTTTTGGGGGTATGCTGCAGTTCATTCTTTACTATCTAAAAAGGCAATGTGACCTTACAGTCTCATTCCATAGTTCTACTAGAACATGCTGAACCAGGGTACTGGCAATAAGAGGTCATCTGACTATTCTCCAGTGTCCAAGCTGCGCTGAATCCAATTACCTATTACCCCATAAAATTATTTACCCATTATTTTCCATCTTTGAAAAAAATAATTTCTCACATACCAAAGAACAATGAACTTTTCCTTTAGTTCTAAGCTAAGCTCCTCATGCTGTAAATTTAATTCCTCTGGTTCTGGGCTTGGCTAAGATGAACACCTGTCTGCTCTTCTTCAGATAGGATTTCCTCTCACATAAGCAGAGGCTATTAAGTTTCTTCTCAGTCTTTTCTTCCTATCCCTTTTCCCCTCTAATCCTGAATATCCACTTGGCTGAAAAATTTTTAAATTAACAAATAAAAAAACCTGGAACTCAGACCCTGGAATGTATACATTTTCCTTACTGTGATCAGAAGAAGGAAGGCCTGAATAGATGAAGGCTTATGACCTTACGGTTTCGTTTGGTAATTAAAACCACACCTTGTTCAAATTAGTTGGGTTGATCTAAATACAGGGACTAATACTGGGGCCTTATGTAAACATGTGCTATTTCCACTACCCTAAGACTGTCCTAGGAGAACCTAGTATGAAAAAGGAGATGGTGGTTATGCTTTTTTTAAAACATGAACTGAATACCTTGTGCTTATGCAAACTATTGGCTATCAGCTTTCCTGTTCCTTGGCTGGCTGGAACATCAGAGAATTAAATCAGAGGCATCTCAAAAATTGTCTGATGGAATATGTTTTGTTGCAGGCTTACTAATACATTCACTCAACTCTGCTAATTTCTCGCAGTCTTCTCTAGAGGCTAATTTTTCTACAAACTCCTATTATTGGTGACAACTTTGGAAATCTAGTTGAACTGCCTATAGCAATTCAACTTGCAAAAAAAAACCTTTTCAATATTTTAAAAAATAAAAATCAGGAAAACCAAAAACATTTGTTAGAATCCTATAGATATTAAGTTGAACCATTTGAAATGGCTGATAGTCAACTGTTTTTGACCTACAAAAATGGCATTCTCACAGGTTTAACCTAATATTTTAAAAGGATGTTTTTAATAATTGAGAGCCCTTTCTTTCTCTTCCCTCCCAAATTCCCTTTATAATATATAGATCTTTCTTGGTTATATTTACCCAGATGATCATTTTCCATCTAGCTTTCTATTATTTCCATATTTCCTATATTAGCATTTTAAAATCTAGAAGAATTTTTTGTTTTTCTTAGTAAAGTCTTTCAATCATATTTCAAATTACTGCCCAGAAAAGAAAGTGATCAAAGACTTAAGAAAAGAGAAAGGCAAAAACATAATAAGAAATAAAGCCTAGGAGGTCCCCAAACCAGAGATCAAAGATCCACTTTAGCTGTTCCATTTTCAGCAACCACAGATAACTCTTTAATCTTCCCATAGCTACTTGATACCCATTTCGTGTCCAGCTGTGCAGAGTGGAAAGCCCTGGCCCTTTGAACATTTGTGCACAACTCCCTCGTTATTATGGGCTCCAGTTCGCCCTGACTTCCAAAATAATCCCTTGGATTCTGACCTAGAGAAATTTGAAAGCTTTATTTAGATTTTCATCAATAGGAAGCTCTTAGGCAAACATTTTACCCAGTTGATCAAACCACAGACTGAAAACTGAGGGGAACTCAATTGTTCCTTCCAAAAAGCTTGCTATGTGAAATTCAGCAAGCACTTTACCTACCCAGTGCTTCAATTTTCTGGTCTGTAGCAATATTAAAGAGTTAGGTAATTAATGATAGAGAAAGGACCTATAAAGCAGTGTGCAAACGTACTATTAGTTTGTAAATG
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Task1_train_9527
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A genetic alteration is present in KIF20A (kinesin family member 20A) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; not provided
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AGTTCCATGAGAGCATGGTCCTTGATGATGTCTCTCACTATGGACTATCAGAGCTTCTCGGTTCCTAGGCCATAGTAGACACTCTAAATATCTGGGTTTTTTTTGTTTTTTGGGTTTTTTTGTTTTCGAGATGGAGTCTCGCTCTGTCCCCCAGGCTGGTGTGCAGTGGCACAATCTCTGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTCCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCTACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGACTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCTCTTTGGCCTCCCAAAGTGCCGGGATTATAGGCGTGAGCCCCTGCACCCAGCCTCTAAGTATCTGTTGAATGAATGACATAGGTGCTATTATTAACCCCATTCTGCAGATGAGGAAACTGAGGCCAAGAATTTCAAGAACTCATAATTCAAGGTCTCATAGTTACTAAGTCATGGAATTGGGACTCAAATTCAAGTGTTTGCCTCTGCTTTGCTTTAATATCACATACTAATTTTCATACCAGTCAATAAATTCGAACTCAGATCATCGGTGTGGCAAGCCACATTTGCAGGATAATGACGAGACAGGGAAGGGTGACAAAGTAGTAAAAATGTCCATGTGGGTTGGAATGATTGTGGAACCAAAGAGTAGCTGCACAGAGACATTTGAGGTGAAATGGGGTAGTGTTATCATAGTTCCTAGAAACTACTGTTTGCCCATTTGCTCAGAGGTAACTGCTGAAATTAATCTGTGGTTCTGGGCTGGGATTCTGCCACAGGTTCCATCTGAGGACAGTATGGAGAAGGTGAAAGTATACTTGAGGGTTAGGCCCTTGTTACCTTCAGAGTTGGAACGACAGGAAGATCAGGTAAGTGTCTGAGAAGGGAGGATTCAAGGTGAAATGATGCAGTACAAAAGATTCCCAGGAATGCCTTCTGTGACAACTGTATTTTCTCCCTTCTCAGGGTTGTGTCCGTATTGAGAATGTGGAGACCCTTGTTCTACAAGCACCCAAGGACTCTTTTGCCCTGAAGAGCAATGAACGGGGAATTGGCCAAGCCACACACAGGTTCACCTTTTCCCAGGTATGGAGGGTACTGGTTTGTGAACAAAAGACCAACATGTAAGGGCAACTTTATTCCCTCTTTAGAGGGAAAGCTTCTCTTCCTGACTGTGAGTTCCTTGTATATGCACACCTACAATTTTGAGGGCCCTAGTTATGTGTTAGTCAATGTGTCAAGTAACATATGTATATCAGTTCTGAAAAATTCTATTGTTATTATCATTATTTCCTTATTTTCCTCACAAGGATAGTGTGGCTCAATGAATGTAATATTGCTGAAGCCATGTAGCTAGTCACTAGTAGAGTTAGGACCTGAGTCTAGATCCATGTATCTCCAAAGCCCATACTTGTGGGCCATTATATTGCCCCATTGTGTGTGCAGCATCAGGCCTAGGGCATAGCATTCCTTAAGTGTTTGTTGATTTGGTGGAAAGATGGACTAGCAGAGAGTGCTTGAGTCCTCAGTGTTTAGGGAACAGCCAGCAGCATTGCAGGAAGAAGCTGCTTGAGTGGTCTCCAGAGCCAACCACTCAGGAAGGAATATATCTGCTGGCTCTGCACAGGAGGCAAGTGGGAGATGAAGGAGAGGCCTCTAAAAAACTGGGTCTCTCTCTAGATCTTTGGGCCAGAAGTGGGACAGGCATCCTTCTTCAACCTAACTGTGAAGGAGATGGTAAAGGATGTACTCAAAGGGCAGAACTGGCTCATCTATACATATGGAGTCACTAACTCAGGGAAAACCCACACGATTCAAGGTGAGTAGTAAGCCTTCACGGGATTCCTGATTGGCTGGTAATGGTGTTGTTTTTACCTTTTGAGACTCTGAGTTAGGGGGAGAAGGGCACTTGCCTCAGCTGTCCATCTTTCATATGCCTCCAGGTACCATCAAGGATGGAGGGATTCTCCCCCGGTCCCTGGCGCTGATCTTCAATAGCCTCCAAGGCCAACTTCATCCAACACCTGATCTGAAGCCCTTGCTCTCCAATGAGGTAATCTGGCTAGACAGCAAGCAGATCCGACAGGAGGAAATGAAGAAGCTGTCCCTGCTAAATGGAGGCCTCCAAGAGGTAAAGCATTGGTATCCATGGCAGTGGGGGTAGGGGGTACAAATCTCGGGGAAGTTTTGTGCTTACCTTCTCCCTGTGCCCCTCCAGGAGGAGCTGTCCACTTCCTTGAAGAGGAGTGTCTACATCGAAAGTCGGATAGGTACCAGCACCAGCTTCGACAGTGGCATTGCTGGGCTCTCTTCTATCAGTCAGTGTACCAGCAGTAGCCAGCTGGATGGTATGTACCGTGACTGGGCTCTGCCAAAAAATAGTAGGAACTCACTCCCTGTTCCTAATAGCTGCCAGGAGTACAGACCAGAGGTTGCAATCTAAGGTCTGCCTTCCAAGGCCCCTGCAGGCCAAAAGAGAGGTGAACTGCTCTAGGTTGATGCCCTATACATTGGCTTCTTCTCCAGAAACAAGTCATCGATGGGCACAGCCAGACACTGCCCCACTACCTGTCCCGGCAAACATTCGCTTCTCCATCTGGATCTCATTCTTTGAGATCTACAACGAACTGCTTTATGACCTATTAGAACCGCCTAGCCAACAGCGCAAGAGGCAGACTTTGCGGCTATGCGAGGATCAAAATGGCAATCCCTATGTGAAAGGTAAAGGAACATGGGGAAAGCTGGCATGAACCCTGGAGGGCAACTGGGGAGAGACTGGCAAAAGAGTTGGATGTTCCCATCTTACACCCCTCTCCTTTGGCCCCAGATCTCAACTGGATTCATGTGCAAGATGCTGAGGAGGCCTGGAAGCTCCTAAAAGTGGGTCGTAAGAACCAGAGCTTTGCCAGCACCCACCTCAACCAGAACTCCAGCCGCAGGTGAGTAGATTGTAAGAATAAACTCTTCACTGTGTTCCAGGAAACATTAGTCCTCTGCCTGGTCATGGAAAATGTGCAATGACTTTTTGTTTTTCTTAACTTCCAGTCACAGCATCTTCTCAATCAGGATCCTACACCTTCAGGGGGAAGGAGATATAGTCCCCAAGATCAGCGAGTAAGTTTATCCATTTAGAAATTTGGGCTTCTTGGCCATAAATGATAGTTGGGAAAGCATGGAGGAGGTCCTCAGGGGAACTATGTGTTCTCCTTCTTTGGGTACAGAGATTCTTAGTGGGCCGTCCCCTCTCCAGAATTATACAAAGGGCCAGAAGGCTCATAACATGTGAGGCCCTTATGTCAGATCCTGTGCATCATTCTAGGCTGTCACTCTGTGATCTGGCTGGCTCAGAGCGCTGCAAAGATCAGAAGAGTGGTGAACGGTTGAAGGAAGCAGGAAACATTAACACCTCTCTACACACCCTGGGCCGCTGTATTGCTGCCCTTCGTCAAAACCAGCAGAACCGGTGAGCTTTTGACTATAATTCCTGGGCTCTGCAATTTGCTAAGAGACTTCCTGGACACCACTGGGGATGGTGCTAGGATACCCAAAGGGCTGGTGTTCTGCTCACAGCTCTATTATCTCTGATTCTCTGCCAGGTCAAAGCAGAACCTGGTTCCCTTCCGTGACAGCAAGTTGACTCGAGTGTTCCAAGGTTTCTTCACAGGCCGAGGCCGTTCCTGCATGATTGTCAATGTGAATCCCTGTGCATCTACCTATGATGAAACTCTTCATGTGGCCAAGTTCTCAGCCATTGCTAGCCAGGTGAGAAGCTAGAGGTGTGATGGGTGTGCGCACTTGGAACTGGTAACTCTAAGAAAGCTCCTAGGGACTACTTATGGAGTCAAGTAAGATATTTTTTTTCCCTCTAGCTTGTGCATGCCCCACCTATGCAACTGGGATTCCCATCCCTGCACTCGTTCATCAAGGAACATAGTCTTCAGGTATCCCCCAGCTTAGAGAAAGGGGCTAAGGCAGACACAGGCCTTGATGATGATATTGAAAATGAAGCTGACATCTCCA
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AGTTCCATGAGAGCATGGTCCTTGATGATGTCTCTCACTATGGACTATCAGAGCTTCTCGGTTCCTAGGCCATAGTAGACACTCTAAATATCTGGGTTTTTTTTGTTTTTTGGGTTTTTTTGTTTTCGAGATGGAGTCTCGCTCTGTCCCCCAGGCTGGTGTGCAGTGGCACAATCTCTGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTCCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCTACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGACTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCTCTTTGGCCTCCCAAAGTGCCGGGATTATAGGCGTGAGCCCCTGCACCCAGCCTCTAAGTATCTGTTGAATGAATGACATAGGTGCTATTATTAACCCCATTCTGCAGATGAGGAAACTGAGGCCAAGAATTTCAAGAACTCATAATTCAAGGTCTCATAGTTACTAAGTCATGGAATTGGGACTCAAATTCAAGTGTTTGCCTCTGCTTTGCTTTAATATCACATACTAATTTTCATACCAGTCAATAAATTCGAACTCAGATCATCGGTGTGGCAAGCCACATTTGCAGGATAATGACGAGACAGGGAAGGGTGACAAAGTAGTAAAAATGTCCATGTGGGTTGGAATGATTGTGGAACCAAAGAGTAGCTGCACAGAGACATTTGAGGTGAAATGGGGTAGTGTTATCATAGTTCCTAGAAACTACTGTTTGCCCATTTGCTCAGAGGTAACTGCTGAAATTAATCTGTGGTTCTGGGCTGGGATTCTGCCACAGGTTCCATCTGAGGACAGTATGGAGAAGGTGAAAGTATACTTGAGGGTTAGGCCCTTGTTACCTTCAGAGTTGGAACGACAGGAAGATCAGGTAAGTGTCTGAGAAGGGAGGATTCAAGGTGAAATGATGCAGTACAAAAGATTCCCAGGAATGCCTTCTGTGACAACTGTATTTTCTCCCTTCTCAGGGTTGTGTCCGTATTGAGAATGTGGAGACCCTTGTTCTACAAGCACCCAAGGACTCTTTTGCCCTGAAGAGCAATGAACGGGGAATTGGCCAAGCCACACACAGGTTCACCTTTTCCCAGGTATGGAGGGTACTGGTTTGTGAACAAAAGACCAACATGTAAGGGCAACTTTATTCCCTCTTTAGAGGGAAAGCTTCTCTTCCTGACTGTGAGTTCCTTGTATATGCACACCTACAATTTTGAGGGCCCTAGTTATGTGTTAGTCAATGTGTCAAGTAACATATGTATATCAGTTCTGAAAAATTCTATTGTTATTATCATTATTTCCTTATTTTCCTCACAAGGATAGTGTGGCTCAATGAATGTAATATTGCTGAAGCCATGTAGCTAGTCACTAGTAGAGTTAGGACCTGAGTCTAGATCCATGTATCTCCAAAGCCCATACTTGTGGGCCATTATATTGCCCCATTGTGTGTGCAGCATCAGGCCTAGGGCATAGCATTCCTTAAGTGTTTGTTGATTTGGTGGAAAGATGGACTAGCAGAGAGTGCTTGAGTCCTCAGTGTTTAGGGAACAGCCAGCAGCATTGCAGGAAGAAGCTGCTTGAGTGGTCTCCAGAGCCAACCACTCAGGAAGGAATATATCTGCTGGCTCTGCACAGGAGGCAAGTGGGAGATGAAGGAGAGGCCTCTAAAAAACTGGGTCTCTCTCTAGATCTTTGGGCCAGAAGTGGGACAGGCATCCTTCTTCAACCTAACTGTGAAGGAGATGGTAAAGGATGTACTCAAAGGGCAGAACTGGCTCATCTATACATATGGAGTCACTAACTCAGGGAAAACCCACACGATTCAAGGTGAGTAGTAAGCCTTCACGGGATTCCTGATTGGCTGGTAATGGTGTTGTTTTTACCTTTTGAGACTCTGAGTTAGGGGGAGAAGGGCACTTGCCTCAGCTGTCCATCTTTCATATGCCTCCAGGTACCATCAAGGATGGAGGGATTCTCCCCTGGTCCCTGGCGCTGATCTTCAATAGCCTCCAAGGCCAACTTCATCCAACACCTGATCTGAAGCCCTTGCTCTCCAATGAGGTAATCTGGCTAGACAGCAAGCAGATCCGACAGGAGGAAATGAAGAAGCTGTCCCTGCTAAATGGAGGCCTCCAAGAGGTAAAGCATTGGTATCCATGGCAGTGGGGGTAGGGGGTACAAATCTCGGGGAAGTTTTGTGCTTACCTTCTCCCTGTGCCCCTCCAGGAGGAGCTGTCCACTTCCTTGAAGAGGAGTGTCTACATCGAAAGTCGGATAGGTACCAGCACCAGCTTCGACAGTGGCATTGCTGGGCTCTCTTCTATCAGTCAGTGTACCAGCAGTAGCCAGCTGGATGGTATGTACCGTGACTGGGCTCTGCCAAAAAATAGTAGGAACTCACTCCCTGTTCCTAATAGCTGCCAGGAGTACAGACCAGAGGTTGCAATCTAAGGTCTGCCTTCCAAGGCCCCTGCAGGCCAAAAGAGAGGTGAACTGCTCTAGGTTGATGCCCTATACATTGGCTTCTTCTCCAGAAACAAGTCATCGATGGGCACAGCCAGACACTGCCCCACTACCTGTCCCGGCAAACATTCGCTTCTCCATCTGGATCTCATTCTTTGAGATCTACAACGAACTGCTTTATGACCTATTAGAACCGCCTAGCCAACAGCGCAAGAGGCAGACTTTGCGGCTATGCGAGGATCAAAATGGCAATCCCTATGTGAAAGGTAAAGGAACATGGGGAAAGCTGGCATGAACCCTGGAGGGCAACTGGGGAGAGACTGGCAAAAGAGTTGGATGTTCCCATCTTACACCCCTCTCCTTTGGCCCCAGATCTCAACTGGATTCATGTGCAAGATGCTGAGGAGGCCTGGAAGCTCCTAAAAGTGGGTCGTAAGAACCAGAGCTTTGCCAGCACCCACCTCAACCAGAACTCCAGCCGCAGGTGAGTAGATTGTAAGAATAAACTCTTCACTGTGTTCCAGGAAACATTAGTCCTCTGCCTGGTCATGGAAAATGTGCAATGACTTTTTGTTTTTCTTAACTTCCAGTCACAGCATCTTCTCAATCAGGATCCTACACCTTCAGGGGGAAGGAGATATAGTCCCCAAGATCAGCGAGTAAGTTTATCCATTTAGAAATTTGGGCTTCTTGGCCATAAATGATAGTTGGGAAAGCATGGAGGAGGTCCTCAGGGGAACTATGTGTTCTCCTTCTTTGGGTACAGAGATTCTTAGTGGGCCGTCCCCTCTCCAGAATTATACAAAGGGCCAGAAGGCTCATAACATGTGAGGCCCTTATGTCAGATCCTGTGCATCATTCTAGGCTGTCACTCTGTGATCTGGCTGGCTCAGAGCGCTGCAAAGATCAGAAGAGTGGTGAACGGTTGAAGGAAGCAGGAAACATTAACACCTCTCTACACACCCTGGGCCGCTGTATTGCTGCCCTTCGTCAAAACCAGCAGAACCGGTGAGCTTTTGACTATAATTCCTGGGCTCTGCAATTTGCTAAGAGACTTCCTGGACACCACTGGGGATGGTGCTAGGATACCCAAAGGGCTGGTGTTCTGCTCACAGCTCTATTATCTCTGATTCTCTGCCAGGTCAAAGCAGAACCTGGTTCCCTTCCGTGACAGCAAGTTGACTCGAGTGTTCCAAGGTTTCTTCACAGGCCGAGGCCGTTCCTGCATGATTGTCAATGTGAATCCCTGTGCATCTACCTATGATGAAACTCTTCATGTGGCCAAGTTCTCAGCCATTGCTAGCCAGGTGAGAAGCTAGAGGTGTGATGGGTGTGCGCACTTGGAACTGGTAACTCTAAGAAAGCTCCTAGGGACTACTTATGGAGTCAAGTAAGATATTTTTTTTCCCTCTAGCTTGTGCATGCCCCACCTATGCAACTGGGATTCCCATCCCTGCACTCGTTCATCAAGGAACATAGTCTTCAGGTATCCCCCAGCTTAGAGAAAGGGGCTAAGGCAGACACAGGCCTTGATGATGATATTGAAAATGAAGCTGACATCTCCA
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Task1_train_9528
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Consider this mutation in KDM3B (lysine demethylase 3B) on Chromosome 5. Is this a benign change or a disease-causing variant?
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Pathogenic; Diets-Jongmans syndrome
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CGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGACTTAAAAAAAAAAAAAAAAGTCAAAAGAAAACAACACTTAGCAAACAGATAAAGTTCTTGAATGAAAGGTTTAGAGGCTGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCCGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCTCATCTCTACTAAAAAAATACAAAAATTAGGCCAGGTGCAGTGGCTCACACTTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTAGATTACCTGAGGTCAGGAGTTCAAGACCAACCTGGCCAGCATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGATTCGCTTGAGCCTAGGAGGCGGAGGTTGTCATGAGCTGAAATCACACCATCGCACTCCAGCCTGCACGACAAGAGCGAAACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCCGGATGTGGTGGCACACACCTGTAGTCCCAGCTCCTGGGGAGGCTGAGGCAAGACAGTCACTTGAACCCGTTAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAGGAAAAAAAAAAAAAAGGAAAGAAAGGTTTAGAAACTTAGATAATATTACCAAAAGTATAGGCAAACAAAAGTTAATCTTGAGCTTTGCATAACAGTTTTTTGTTTTGTTTTGTTTTGTTTTTTGATAAGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTTCCCCTCCCGGGTTCAAGTGATTCTCCTGCATCAGCCTCCCCAATAGCTGGGATTACAGAAATGCACCACCATGCCTGGCTGATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCAACACGCCAGGCCTCCTGGGTTCAAGCGATTCCCTTGCCTCAGCCTCCCAAGTTGCTGGGACTACAGGCATACGCCACCACACCCAGCTAATTTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCAGGTTCACTTTTCCTTTGGTCACAGACTCACAAACGTTGGTTTAGTGACTTCTGGTTAGAGAAGATGTCCTATTTCAGTACTTAAAATGCAAGTTTCTTTCAAGCAAGGAGGTAAATATGTAATAAAGTGAGTTATTTCATCAAGGGGTAAATGAGCTCCCACCCTAGCTTTAGCACTCTATTTTGTAAAAGAAACTCAACAAATTGTTAAAACCCTCAAAGAAGTCCATTTAAGGCAGTGTAATGTTTTATTTAAGAGAAAGTTTGCCAAGTGAGTTAACCTCTAGTAACTATTATCTTGAATGTGTGTGTATAAATTGAGTCACACAAAGATTAGAGCTTTTAACAAAGGGGATGTTTTAGAACTGGCATTGGAACTTGGCAGTCTATGCCTGCTTTGTCTGCTTCTAGAGATGGGAAAGAGCTAATGGTGTGTGGTATTCACAGGATGAAAGTTTCCTTGTAATCTTTTTTGAATTTTGTTTTGTAGGGGGGTACGTTAAAAGCAGTAAAATCTTCCAAAGGAAAGAAGAAGAGAGAAAGCATAGAGGGGAAAGATGGCCGGAGGAGGAAAAGTGCTTCGGACTCTGGGTGTGACCCTGCATCAAAGAAATTAAAAGGAGACAGGGGTGAAGTAGACAGTAATGGGAGCGATGGAGGTGAGGCAAGCCGAGGGCCCTGGAAAGGAGGGAATGCCAGTGGAGAGCCAGGGCTGGATCAGAGAGCCAAGCAGCCACCGTCTACATTTGTCCCCCAGATAAACCGCAACATTCGCTTTGCCACTTACACCAAAGAAAACGGCAGGACTCTGGTGGTGCAGGATGAGCCTGTAGGTGGGGACACACCTGCATCTTTCACTCCATATTCTACAGCCACAGGTCAGACACCTTTGGCCCCAGAGGTGGGTGGAGCCGAAAACAAAGAGGCAGGAAAAACACTGGAACAAGTTGGCCAGGGCATAGTGGCTTCCGCAGCTGTGGTCACTACCGCCAGCTCCACCCCAAACACAGTGAGGATCTCAGACACTGGCCTTGCAGCAGGGACTGTGCCAGAAAAACAGAAAGGCAGCCGGTCGCAGGCCTCGGGAGAGGTGAGTTACTTCAGGGGCAGATTTGCAAGATTTGGGTTTACTCTTTCGCCCTCCTTTATTGCTAACATTAAAAAACATTCAAGTGCCCCAGGGAAGGAGTATTTCTGAGATGTGCTTAAATTATACTCTGTGGAAGGCCTTTACTGCTCACTGGGCAAATGTGTATAGTTTAATAACTTTATCAGCTCTTAAAAGGCACCAGAACAGTTGGGTGAATCAAAAACTGATGATACAACCTAATTTAAAGACATGTTAAAGTAGATCTGGTGGGGAATGTTTTAAATTCTATTATCTATTTAGTTCACGTAGTGATCAAGCCTCTGCTAGGCCTATAAGAGGTGAGGTTAATGAATTACAGTATTGGTAATAGTGAATACTATAATTAAGGCTATGTGTGCAAGCTACCATTACCCTGTTTTCAATTCATCATTTTCTATGATATTTTCCCTTGAGGCTGAGTTAATTTCCATCATTTGATATGGCCATGGAAGGTTTTTTCTCCCTATCTTCACCTTTTTAAGCCTTACCTGAAAATTTGATGGATTTCATCACAACAGTATCTGATTTCCTTTGTTCTTTATCTGATATGCATATATTGTTGCTAAAATGGAACCTCTGTTAAATGTAAGTTAACATCAAGTTGTCTCCCTAATCCAAAATATCAAAATCAGTATAATATATTCTTTTTGACTAATTTTGGTCACCAAAATATGATTTATGGTGCTAGTCATCTTTTTTTTCCCCAAACAGCTATTAACTCAAGCTAAAATATGAAATACAGAGATGAAATGCTTAATGATTTTTAAAAATTATATATAGGAAACTACTGTGTGCTGAGTACTGTATATTATATATAAGGAATTGAAACTCCTATTTGAAGGAGCTCACATCCTAAAACGGAATCATTTCAGAAAAAACAATGCCAGACAAAACATGACAAACGTGACTTCTTTCCCTCCCCAACAAGTGCAGATTGTTAATCCCTAGTGTGCAGGGATAGGGAGGGAGAGGAAATGTCCACACAGACGAGGAGAAGGCCTGTAAATGCAAATTTCACACTGTTGATGGTTTGTCCTGTTGGTTGACCAGCATTCCCAAGATAACCAGGTGAGGATCTTATATGGATTTCCAGTGTAAATCATCATAGTGTCTGAATTATTTAAAAACAACTCCATGTTGGCCAGGCACAGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCGGCGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTATGTCTCAAAAAAACAAAACAAAACAAAAACAACTCCATGTCAAAGGCAGTGTGAATGTAAATGGAGCTTACAAAATAGACCAGGTTTTACATGCTATAAAAGAGATCCATTGAATGCTGCTACTCTTAGAGTAGCAAAGCTGAATATATGAAATTCAGATTGAAAGAGTATTTTCTTTTAAACAGGTTGAGGGAATTTCTGTGACTATGACAGTCATGTTG
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CGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGACTTAAAAAAAAAAAAAAAAGTCAAAAGAAAACAACACTTAGCAAACAGATAAAGTTCTTGAATGAAAGGTTTAGAGGCTGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCCGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCTCATCTCTACTAAAAAAATACAAAAATTAGGCCAGGTGCAGTGGCTCACACTTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTAGATTACCTGAGGTCAGGAGTTCAAGACCAACCTGGCCAGCATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGATTCGCTTGAGCCTAGGAGGCGGAGGTTGTCATGAGCTGAAATCACACCATCGCACTCCAGCCTGCACGACAAGAGCGAAACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCCGGATGTGGTGGCACACACCTGTAGTCCCAGCTCCTGGGGAGGCTGAGGCAAGACAGTCACTTGAACCCGTTAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAGGAAAAAAAAAAAAAAGGAAAGAAAGGTTTAGAAACTTAGATAATATTACCAAAAGTATAGGCAAACAAAAGTTAATCTTGAGCTTTGCATAACAGTTTTTTGTTTTGTTTTGTTTTGTTTTTTGATAAGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTTCCCCTCCCGGGTTCAAGTGATTCTCCTGCATCAGCCTCCCCAATAGCTGGGATTACAGAAATGCACCACCATGCCTGGCTGATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCAACACGCCAGGCCTCCTGGGTTCAAGCGATTCCCTTGCCTCAGCCTCCCAAGTTGCTGGGACTACAGGCATACGCCACCACACCCAGCTAATTTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCAGGTTCACTTTTCCTTTGGTCACAGACTCACAAACGTTGGTTTAGTGACTTCTGGTTAGAGAAGATGTCCTATTTCAGTACTTAAAATGCAAGTTTCTTTCAAGCAAGGAGGTAAATATGTAATAAAGTGAGTTATTTCATCAAGGGGTAAATGAGCTCCCACCCTAGCTTTAGCACTCTATTTTGTAAAAGAAACTCAACAAATTGTTAAAACCCTCAAAGAAGTCCATTTAAGGCAGTGTAATGTTTTATTTAAGAGAAAGTTTGCCAAGTGAGTTAACCTCTAGTAACTATTATCTTGAATGTGTGTGTATAAATTGAGTCACACAAAGATTAGAGCTTTTAACAAAGGGGATGTTTTAGAACTGGCATTGGAACTTGGCAGTCTATGCCTGCTTTGTCTGCTTCTAGAGATGGGAAAGAGCTAATGGTGTGTGGTATTCACAGGATGAAAGTTTCCTTGTAATCTTTTTTGAATTTTGTTTTGTAGGGGGGTACGTTAAAAGCAGTAAAATCTTCCAAAGGAAAGAAGAAGAGAGAAAGCATAGAGGGGAAAGATGGCCGGAGGAGGAAAAGTGCTTCGGACTCTGGGTGTGACCCTGCATCAAAGAAATTAAAAGGAGACAGGGGTGAAGTAGACAGTAATGGGAGCGATGGAGGTGAGGCAAGCCGAGGGCCCTGGAAAGGAGGGAATGCCAGTGGAGAGCCAGGGCTGGGTCAGAGAGCCAAGCAGCCACCGTCTACATTTGTCCCCCAGATAAACCGCAACATTCGCTTTGCCACTTACACCAAAGAAAACGGCAGGACTCTGGTGGTGCAGGATGAGCCTGTAGGTGGGGACACACCTGCATCTTTCACTCCATATTCTACAGCCACAGGTCAGACACCTTTGGCCCCAGAGGTGGGTGGAGCCGAAAACAAAGAGGCAGGAAAAACACTGGAACAAGTTGGCCAGGGCATAGTGGCTTCCGCAGCTGTGGTCACTACCGCCAGCTCCACCCCAAACACAGTGAGGATCTCAGACACTGGCCTTGCAGCAGGGACTGTGCCAGAAAAACAGAAAGGCAGCCGGTCGCAGGCCTCGGGAGAGGTGAGTTACTTCAGGGGCAGATTTGCAAGATTTGGGTTTACTCTTTCGCCCTCCTTTATTGCTAACATTAAAAAACATTCAAGTGCCCCAGGGAAGGAGTATTTCTGAGATGTGCTTAAATTATACTCTGTGGAAGGCCTTTACTGCTCACTGGGCAAATGTGTATAGTTTAATAACTTTATCAGCTCTTAAAAGGCACCAGAACAGTTGGGTGAATCAAAAACTGATGATACAACCTAATTTAAAGACATGTTAAAGTAGATCTGGTGGGGAATGTTTTAAATTCTATTATCTATTTAGTTCACGTAGTGATCAAGCCTCTGCTAGGCCTATAAGAGGTGAGGTTAATGAATTACAGTATTGGTAATAGTGAATACTATAATTAAGGCTATGTGTGCAAGCTACCATTACCCTGTTTTCAATTCATCATTTTCTATGATATTTTCCCTTGAGGCTGAGTTAATTTCCATCATTTGATATGGCCATGGAAGGTTTTTTCTCCCTATCTTCACCTTTTTAAGCCTTACCTGAAAATTTGATGGATTTCATCACAACAGTATCTGATTTCCTTTGTTCTTTATCTGATATGCATATATTGTTGCTAAAATGGAACCTCTGTTAAATGTAAGTTAACATCAAGTTGTCTCCCTAATCCAAAATATCAAAATCAGTATAATATATTCTTTTTGACTAATTTTGGTCACCAAAATATGATTTATGGTGCTAGTCATCTTTTTTTTCCCCAAACAGCTATTAACTCAAGCTAAAATATGAAATACAGAGATGAAATGCTTAATGATTTTTAAAAATTATATATAGGAAACTACTGTGTGCTGAGTACTGTATATTATATATAAGGAATTGAAACTCCTATTTGAAGGAGCTCACATCCTAAAACGGAATCATTTCAGAAAAAACAATGCCAGACAAAACATGACAAACGTGACTTCTTTCCCTCCCCAACAAGTGCAGATTGTTAATCCCTAGTGTGCAGGGATAGGGAGGGAGAGGAAATGTCCACACAGACGAGGAGAAGGCCTGTAAATGCAAATTTCACACTGTTGATGGTTTGTCCTGTTGGTTGACCAGCATTCCCAAGATAACCAGGTGAGGATCTTATATGGATTTCCAGTGTAAATCATCATAGTGTCTGAATTATTTAAAAACAACTCCATGTTGGCCAGGCACAGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCGGCGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTATGTCTCAAAAAAACAAAACAAAACAAAAACAACTCCATGTCAAAGGCAGTGTGAATGTAAATGGAGCTTACAAAATAGACCAGGTTTTACATGCTATAAAAGAGATCCATTGAATGCTGCTACTCTTAGAGTAGCAAAGCTGAATATATGAAATTCAGATTGAAAGAGTATTTTCTTTTAAACAGGTTGAGGGAATTTCTGTGACTATGACAGTCATGTTG
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Task1_train_9529
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The gene KDM3B (lysine demethylase 3B) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Diets-Jongmans syndrome
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CCTGAGCTCAGGCCTGTGTAAAGGCAGATCCGTTCTTGGAACAGACACTAAGCCAGGCTCTAAGGCTGGCAGCTCTGTGGACCGGAAAGTGCCTGCAGAGTCCATGCCCACCCTCACTCCAGCCTTCCCACGGAGCCTCCTAAATGCCCGTACCCCAGAGAATCATGAAAATCTATTTTTACAGCCCCCCAAATTGTCCCGAGAAGAGCCTTCTAATCCTTTCCTGGCATTTGTGGAGAAAGTTGAACACAGCCCTTTCAGTAGTTTTGCATCTCAGGCATCAGGTAGCTCCTCTTCTGCTACCACTGTCACCTCCAAGGTGGCACCCAGCTGGCCCGAGTCTCACTCCTCTGCAGATTCGGCATCTTTAGCAAAGAAGAAACCCCTCTTCATTACAACTGACTCCTCCAAGCTAGTATCTGGTGTTCTGGGCTCAGCTCTTACCAGTGGGGGCCCAAGCCTCTCTGCCATGGGGAATGGCCGCTCCAGCTCGCCCACCAGCAGCCTCACTCAGCCCATTGAGATGCCAACTCTCTCCTCTAGCCCCACAGAGGAGAGGCCAACTGTGGGGCCTGGGCAGCAGGACAATCCCCTCCTCAAAACCTTTAGTAACGTCTTTGGCAGGCACTCAGGCGGCTTTCTGTCCTCCCCGGCAGATTTTTCACAGGAGAACAAAGCTCCTTTTGAAGCTGTGAAAAGGTTCTCACTGGATGAACGAAGCTTGGCTTGCAGACAAGACTCGGACTCCAGCACCAACAGTGACCTGTCAGATTTGAGTGACTCTGAGGAGCAGCTGCAGGCTAAGACAGGCCTGAAGGGAATTCCAGAGCACCTGATGGGGAAGCTGGGCCCCAATGGGGAGCGCAGTGCTGAGCTGTTGCTGGGCAAAAGCAAAGGGAAGCAGGCCCCCAAGGGCCGGCCTCGGACTGCCCCCCTGAAAGGTGATCCTGCTGGGGCTATATTTGGGCTTTGCTCTGGCACTGGGCTCAAATGCCTGTCGTGTTCTTGTGCAGCAGAGGCACTCACTTTGATGGAGAGTTCTGTAATCTCATAGAATTACAGAGCCAAGAGGACCTGGCAGAGGCCCCTCGTCAGGCCTGGTTCAGGGCAGGATTGCATCTAAACCGGCACTGTAGGAGGAGTATCTGTCCCAAATAATGATAATCCCCCAAAGGAGGACTCTTGATCTTCCTTGGCGGTCAGTTATTTTTGGTCAGGAACTATTTCTTTGCATTTGTCTCATCCCTTTTTACTTCACTTTGGCCCATCCTCTTTACTTCAGAGGGGTTACTGGGAACTGGTATCCATTCCCACATAGCAGACATTTGTAGACTTGATGAAGCAGAGAGAATCACCCCTCAGTTTGCTCCTCTCTGAAACCTACATAAGGATTTTAACAGCTCTATCAAAATCCATTAACTTGTGTGGTGTGAGGTTATGGTCCAGAAGCGGGTAAAACAAAGTCTCATGGTAAAAGCAGCTGTTCTCAATAGGAATTGCTATGTTGTGGGAGCTCAAGAGGTCCTGATGAACAGAATAGCCATATCGTGAGAGACTAGAGGCAGGTGATGGCTACATTCTGGCTTCTTATGTTTTTCACATCCATATTCAAAGTTGTTTTGCCATAGTGGGGCACTTCCCACAAGTTCTGCATGGTTCTTAGCTCCCAATGGAAGCTTCTTTGCTCCTTGCTTTCCCTTCCTGTCAAGGATGGACATAATGGGTACATGCCCAAGCAGGGAAAGGAGTAGCAACCCAGGTCAGAACAAATGTCTGTCCCCAAAAGAATCATGCTATTGGTTCCTGTTTACACCTCATGACAAACTTTTCTTCTCTCCCCCTTGCCACAGTTGGCCAGTCAGTGCTGAAAGATGTAAGCAAAGTGAAGAAGCTGAAGCAATCTGGAGAGCCCTTCCTGCAGGATGGGTCATGCATCAATGTGGCACCTCATCTGCACAAGTGTCGTGAATGCCGCCTGGAGCGGTACCGGAAGTTTAAGGAACAGGAGCAAGATGATTCTACTGTAGCCTGCCGTTTCTTTCACTTCCGGAGGTACCCAAACTCCTGTTTTCCTCCTTTGCTAGTTTTCATTAGTGACACATAACTTCCACTCTTTCTCTGAGTCTATAAACATGTTTCATCATCTTGGTCTTTGCTTTCCTCAACTCCTTTGCTCTCAGCGTCTGTGAAGAGGCTCTGGCATAGTAGTCACTTAGTTGTTTGGATTGTAAAATGACATGTGATTTTGTCCTTGGAGAATTAAAATTGAGCAGTGTTAGCTGCAGCTCTGTGCTATTCCCTGAGTAATTCCTAACTTGGGTTGGTTCTATTTGAAACCACTATTATAAGCAGAAGGACTGCATTTCATATTATGGATCTACCTGACTGCTTATTCCTCCTCAGTGCTAGAGTAACTTGAGTCATGTTAAAAAGACGGGGAGGTAAGATTTGGAGATAATGTGAAGCATCTTTGAAATAGATATAACTGATGGAAATGTGGGAATATCGTCTGCTTTTACCAAACAATATCTCTTTAGTTACTTTTCTTCTGCTTGATAAACTTAGAAGGGGAGTTTCTTCTGAGTGACCTTTCAAGAATCTTTAATTTTTAAAGTAAATCCAAATGGTTTACCAATATGGTGTGGATTCACTTAGCAAATGTTTATTGAGCATTTAATGTGTGCCAACCCTTGTTCTGGCCATTGAATATTCAGCAGTGAACAACAAAAAAATCAAATTTCAGCCCTCAGAAGGTTTGGGGAGGCAGACAGTAAATAAGGAAAAAAGGCCAAGCATGATTACATGCCTTTAACTCCAGCACTTTGGGAGGCCGAAGCAGAAGGATCACTTGAGACCAGCATGGGCAACATAGTGAGACCTAGTCTCTACAGAAAATTTTAAAAATTAGCCGAGTGTGGTGGCACACACCTGTAATTCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGGTCAAAGCTGCATTGAGCCTTGATCGTACCACTGCACTCCAGCCTTAGAAGCAAAGCGAGGCTCTCTCTAAAAGAAAAAGAAAAAATAATAAGTGATATGTCAGCTGATAATAACTATGAGAAAAATAAGGAAAGAGGATTGAAGTGTGAGGATGCTAGAGAGGCTACAGTTTTAAACAGGATGATCTGAGAAAGTGAGAGTTGAGGAACAGCCTGCAGGAGGTGAAAGAATACACCACACTGTGACAGGTATTCCAGACAGGTGCAAGCATCCCAAAGCTGGAGTATTTCTGGTGTGTCCATAAAGTTAGGTTGCTAAAATAGAATAAACAAAGAAGGAAAAGGAGTTGAGGTGAATGAGTTAATGATGGGTCCACATTTTAAAGGGCTATTCCAAAGGCCTTGGTTTTTACTCTGATGAGAAGTCATTGGAGGCCTTGAGCTGATGCGTGACACTGATTAATGTTTTAAAAGGCCACTTTGGCCACCTTTTTGAGAATAAGCTATGTAGAGGCAAGGGCAGAAGCAGAGAAGTTAGGAGGCTGTTGGAATTATCCAAGTGAGAAATGATGGGGCTTGGACCACGGAGATAGTGATGGACATGATGAGAAGTAGTTGAAGATAGAGTAGACATAATTTTCTGATGAATTAGATGTGAAGTATGAAAGAAAGGACTTAAGGATGATTCTATGTCTGGTTCTAGATATGTCTTTTGGCCTAAAAACAGGAAGAATGAGATTGCCATTTACTGATAAAGAGATTCTTTAGGGAAAAGCAGGTTTGGGGAGGAAAAGGGGGAGTTTTAACTTGGCCGTGTTAAATTTGAGATGCTTGTTAGATTTTCAAAGGAAAATACTGAGAAGGCAGCTGGGGATACAGCTCTAGAGTTAAGGGAAGGGGTCCTACCTGGAGATATAAATTTGGATATCACCAGGTATTTAAAGCTGTCAGTCTAAGTGAGATCAGAGCATAGATAAAGAAGAATAGCAGTCCAGGGACCAAACTCTGGTACTCTCCAATGTTTAGAGGTGAGAAAGATGGAAGCAACTAGTAAAGGAGACTGAGAAAGAACAGCTAGTGAAGTAGCAGGAAAACTAGGCAGTGAGGTATCCC
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CCTGAGCTCAGGCCTGTGTAAAGGCAGATCCGTTCTTGGAACAGACACTAAGCCAGGCTCTAAGGCTGGCAGCTCTGTGGACCGGAAAGTGCCTGCAGAGTCCATGCCCACCCTCACTCCAGCCTTCCCACGGAGCCTCCTAAATGCCCGTACCCCAGAGAATCATGAAAATCTATTTTTACAGCCCCCCAAATTGTCCCGAGAAGAGCCTTCTAATCCTTTCCTGGCATTTGTGGAGAAAGTTGAACACAGCCCTTTCAGTAGTTTTGCATCTCAGGCATCAGGTAGCTCCTCTTCTGCTACCACTGTCACCTCCAAGGTGGCACCCAGCTGGCCCGAGTCTCACTCCTCTGCAGATTCGGCATCTTTAGCAAAGAAGAAACCCCTCTTCATTACAACTGACTCCTCCAAGCTAGTATCTGGTGTTCTGGGCTCAGCTCTTACCAGTGGGGGCCCAAGCCTCTCTGCCATGGGGAATGGCCGCTCCAGCTCGCCCACCAGCAGCCTCACTCAGCCCATTGAGATGCCAACTCTCTCCTCTAGCCCCACAGAGGAGAGGCCAACTGTGGGGCCTGGGCAGCAGGACAATCCCCTCCTCAAAACCTTTAGTAACGTCTTTGGCAGGCACTCAGGCGGCTTTCTGTCCTCCCCGGCAGATTTTTCACAGGAGAACAAAGCTCCTTTTGAAGCTGTGAAAAGGTTCTCACTGGATGAACGAAGCTTGGCTTGCAGACAAGACTCGGACTCCAGCACCAACAGTGACCTGTCAGATTTGAGTGACTCTGAGGAGCAGCTGCAGGCTAAGACAGGCCTGAAGGGAATTCCAGAGCACCTGATGGGGAAGCTGGGCCCCAATGGGGAGCGCAGTGCTGAGCTGTTGCTGGGCAAAAGCAAAGGGAAGCAGGCCCCCAAGGGCCGGCCTCGGACTGCCCCCCTGAAAGGTGATCCTGCTGGGGCTATATTTGGGCTTTGCTCTGGCACTGGGCTCAAATGCCTGTCGTGTTCTTGTGCAGCAGAGGCACTCACTTTGATGGAGAGTTCTGTAATCTCATAGAATTACAGAGCCAAGAGGACCTGGCAGAGGCCCCTCGTCAGGCCTGGTTCAGGGCAGGATTGCATCTAAACCGGCACTGTAGGAGGAGTATCTGTCCCAAATAATGATAATCCCCCAAAGGAGGACTCTTGATCTTCCTTGGCGGTCAGTTATTTTTGGTCAGGAACTATTTCTTTGCATTTGTCTCATCCCTTTTTACTTCACTTTGGCCCATCCTCTTTACTTCAGAGGGGTTACTGGGAACTGGTATCCATTCCCACATAGCAGACATTTGTAGACTTGATGAAGCAGAGAGAATCACCCCTCAGTTTGCTCCTCTCTGAAACCTACATAAGGATTTTAACAGCTCTATCAAAATCCATTAACTTGTGTGGTGTGAGGTTATGGTCCAGAAGCGGGTAAAACAAAGTCTCATGGTAAAAGCAGCTGTTCTCAATAGGAATTGCTATGTTGTGGGAGCTCAAGAGGTCCTGATGAACAGAATAGCCATATCGTGAGAGACTAGAGGCAGGTGATGGCTACATTCTGGCTTCTTATGTTTTTCACATCCATATTCAAAGTTGTTTTGCCATAGTGGGGCACTTCCCACAAGTTCTGCATGGTTCTTAGCTCCCAATGGAAGCTTCTTTGCTCCTTGCTTTCCCTTCCTGTCAAGGATGGACATAATGGGTACATGCCCAAGCAGGGAAAGGAGTAGCAACCCAGGTCAGAACAAATGTCTGTCCCCAAAAGAATCATGCTATTGGTTCCTGTTTACACCTCATGACAAACTTTTCTTCTCTCCCCCTTGCCACAGTTGGCCAGTCAGTGCTGAAAGATGTAAGCAAAGTGAAGAAGCTGAAGCAATCTGGAGAGCCCTTCCTGCAGGATGGGTCATGCATCAATGTGGCACCTCATCTGCACAAGTGTCGTGAATGCCGCCTGGAGCGGTACCGGAAGTTTAAGGAACAGGAGCAAGATGATTCTACTGTAGCCTGCCGTTTCTTTCACTTCCAGAGGTACCCAAACTCCTGTTTTCCTCCTTTGCTAGTTTTCATTAGTGACACATAACTTCCACTCTTTCTCTGAGTCTATAAACATGTTTCATCATCTTGGTCTTTGCTTTCCTCAACTCCTTTGCTCTCAGCGTCTGTGAAGAGGCTCTGGCATAGTAGTCACTTAGTTGTTTGGATTGTAAAATGACATGTGATTTTGTCCTTGGAGAATTAAAATTGAGCAGTGTTAGCTGCAGCTCTGTGCTATTCCCTGAGTAATTCCTAACTTGGGTTGGTTCTATTTGAAACCACTATTATAAGCAGAAGGACTGCATTTCATATTATGGATCTACCTGACTGCTTATTCCTCCTCAGTGCTAGAGTAACTTGAGTCATGTTAAAAAGACGGGGAGGTAAGATTTGGAGATAATGTGAAGCATCTTTGAAATAGATATAACTGATGGAAATGTGGGAATATCGTCTGCTTTTACCAAACAATATCTCTTTAGTTACTTTTCTTCTGCTTGATAAACTTAGAAGGGGAGTTTCTTCTGAGTGACCTTTCAAGAATCTTTAATTTTTAAAGTAAATCCAAATGGTTTACCAATATGGTGTGGATTCACTTAGCAAATGTTTATTGAGCATTTAATGTGTGCCAACCCTTGTTCTGGCCATTGAATATTCAGCAGTGAACAACAAAAAAATCAAATTTCAGCCCTCAGAAGGTTTGGGGAGGCAGACAGTAAATAAGGAAAAAAGGCCAAGCATGATTACATGCCTTTAACTCCAGCACTTTGGGAGGCCGAAGCAGAAGGATCACTTGAGACCAGCATGGGCAACATAGTGAGACCTAGTCTCTACAGAAAATTTTAAAAATTAGCCGAGTGTGGTGGCACACACCTGTAATTCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGGTCAAAGCTGCATTGAGCCTTGATCGTACCACTGCACTCCAGCCTTAGAAGCAAAGCGAGGCTCTCTCTAAAAGAAAAAGAAAAAATAATAAGTGATATGTCAGCTGATAATAACTATGAGAAAAATAAGGAAAGAGGATTGAAGTGTGAGGATGCTAGAGAGGCTACAGTTTTAAACAGGATGATCTGAGAAAGTGAGAGTTGAGGAACAGCCTGCAGGAGGTGAAAGAATACACCACACTGTGACAGGTATTCCAGACAGGTGCAAGCATCCCAAAGCTGGAGTATTTCTGGTGTGTCCATAAAGTTAGGTTGCTAAAATAGAATAAACAAAGAAGGAAAAGGAGTTGAGGTGAATGAGTTAATGATGGGTCCACATTTTAAAGGGCTATTCCAAAGGCCTTGGTTTTTACTCTGATGAGAAGTCATTGGAGGCCTTGAGCTGATGCGTGACACTGATTAATGTTTTAAAAGGCCACTTTGGCCACCTTTTTGAGAATAAGCTATGTAGAGGCAAGGGCAGAAGCAGAGAAGTTAGGAGGCTGTTGGAATTATCCAAGTGAGAAATGATGGGGCTTGGACCACGGAGATAGTGATGGACATGATGAGAAGTAGTTGAAGATAGAGTAGACATAATTTTCTGATGAATTAGATGTGAAGTATGAAAGAAAGGACTTAAGGATGATTCTATGTCTGGTTCTAGATATGTCTTTTGGCCTAAAAACAGGAAGAATGAGATTGCCATTTACTGATAAAGAGATTCTTTAGGGAAAAGCAGGTTTGGGGAGGAAAAGGGGGAGTTTTAACTTGGCCGTGTTAAATTTGAGATGCTTGTTAGATTTTCAAAGGAAAATACTGAGAAGGCAGCTGGGGATACAGCTCTAGAGTTAAGGGAAGGGGTCCTACCTGGAGATATAAATTTGGATATCACCAGGTATTTAAAGCTGTCAGTCTAAGTGAGATCAGAGCATAGATAAAGAAGAATAGCAGTCCAGGGACCAAACTCTGGTACTCTCCAATGTTTAGAGGTGAGAAAGATGGAAGCAACTAGTAAAGGAGACTGAGAAAGAACAGCTAGTGAAGTAGCAGGAAAACTAGGCAGTGAGGTATCCC
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Task1_train_9530
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The gene KDM3B (lysine demethylase 3B) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Diets-Jongmans syndrome
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TAAAAAAAAAAAAAAAATTGGAAAGTAGGTCTGTGTTTTTATCTGGTCACATTCAGCAGTATGGGTGCAGGTGTAGAACAGGTGAATGGAAAAACTAAGAGGAACTCTGGGACAGCTTTTTAAAGAATCTAGACCTACTAAATGTTATGTTAACAAGCTTTACTATTAGCAGAGAATGCATACTGTTTTGGTCGACTGGTGAAAATTCTTAGTCTGATTCCTGTTGTCTCATTTTACTTCTGTTTAGGTCCCAGGAGTTTAGGTGTGTGTTAGTTTGCGTTGCTCCTGCGATTTACCATGTATTTGATCATGTCTCAGGTTGATCTTCACTCGAAAAGGGGTACTCCGTGTGGAGGGGTTTTTAAGCCCCCAGCAAAGTGACCCTGATGCCATGAACCTGTGGATTCCCTCTTCCTCCCTAGCAGAAGGGATAGATCTAGAGACCTCAAAATACATCCTGGCCAATGTTGGGGACCAGTTCTGCCAGCTCGTAATGTCTGAGAAGGAGGCCATGATGATGGTGGAGCCACACCGTAAGTCACCTTCTCACTTGTCTTCCAGGTGCTCCTAGTGAAAAACTTTTATTTTCTTTCACTTAACGGGAAGATTGGGGACAGTGGCAGATGGCATTTTCTGTGAATGAATTAAGACCGATAAGACTTCTCTTTGTAGCAACCTGTCGTTGAGACCTTAACTATATCCAGCAGACCTCATTCTTTCAGTCTTTGGCAATTAACAAACCAAATACTCCTTCTCTGCTTGCCTTTGTTTTTGTAGCACAGCAGCCATAACATCCATTTAAATTCCCATTTGGGTTTGCCTCACTCTGAATATTTTCAGTTTGCTTTGAACCAATTTGTATTAATAAGCTCTGTGGTTTGTAAATAGATGGTGTGCTACTAGGTGCCATGTTTCATACCTAGAACCCACATTATTCATACATTTCAAATATTTCCATGTCTGTAAGATACTATGCCCTATTTTCCAGACTAAGAAAAATTATACTGTGAAATTATATCCTAAATTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCACACCATTCTCCTGCCTCACCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCACCAAGCCCGGCTAATTTTTTGTGTTTTTAGTAGGGACAGCGTTTCGCCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCAGCCTTCCAAAGTGCTGGGGTTACATGTGTGAGCCACCGCGCCCGGCCCTGTATCCTAAATTTCAAGGGAGGAATCCTCTTATTTTTAAACTCCCCCAGTTAAAAATTTTTCAATTCCGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGTGAATGGTATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGATGACAAAGCGAGACCCCATCTCAAAAAAATATATATATATATTTTTTTACAATTCCTTAAGTGACAACATGTGGCAGTAATTCCTTTTTGACAATAGGTTATATCCTGGTATTACCATGAGCCCTTGAAATACCATTATATTATAAATAAGTTATATAGTCTCTTTGTTCAGAAATACTAGAAATTATTGTATTTTGTTTCTCCTACAATTATAGAAACACAGACTTTATGAATCTTTGAGTTTTATTGCTGAACAAAATAGCTTGAGTAGGGATCAGTGGGTCTGGGGTCTTTTGTTATTGGTCAGGATGATCAATGCCAATTCTGTTTCCTCTTTCCACCAGAGAAAGTGGCATGGAAGCGAGCTGTGCGTGGTGTACGGGAGATGTGTGATGTGTGTGAAACAACTCTCTTCAACATCCACTGGGTTTGTCGCAAATGTGGATTTGGGGTCTGCCTTGACTGTTACCGGCTCAGGAAAAGCCGGCCACGCAGTGGTAAGTAAACATTGTCCTGTGTAGCTCGAAAGGTAACGTGGAGGTATGTCCAAGATGTTGTGGGATTTGAAAATTGAGGCAGGAATGGGCTTATGCCTCTCTTTAGCTGCTTGGCTTCATTCAACTTTGTTGTATTTTAAGACCTTAAAATGGCAAATATTTAGCCTAGGAAGGCTGAAACAAGACAAGAAGGATTATTCTTAATTTTTCCTTGGTTTTTTTTTTGTTTTTGTTTTTTTTAAGGCAGATTCTCGCTCTGTTGCCCAGGTTGGAGCGCAGCGGCACAATCATGGCTTACTGCACCCTTGACCTAGGCTCAAGTGATCCTCCTCGACCTCTCAGAGTGCTGGGAATCATAGGCATGAGCCACCGTACCTGTGTTTTTTTTTAAATAACATCTTTATTGAGATGTAATTCACATGCCATAAAATTCACCCCTTTTAATGTGTACAAGGCTTAGCGTGGTGGCTCATGCCTGTAATTCCAGGACTTTGAGAGGAAGATAGGAGGATCACTTGAGGCCGGGGGTTTGAGACCAGTCTGGGTAACACAGCAAGACCCCATCTCTACAAAATAAAATAAAATTAGCTAGCTAGATATGGTGGCACATGCTTGTAGTCACAGCTACTCAGGAGGCTGAGGCAGGAGGATCACCTGAGCTCAGAGTTTGAGGTTATAGTGAGCTATGATCATACCACTGCACTCCAGCCTGGACAACAGAGTGAGACCTGTCTAAAAATCAATTAAAGTAAATCTACAAGGTTGTACAGCCATTATCTAATTCCATTTTCATCACCCCACACCCCACCTGACAACCCATACCTGTTATCAGTCACTGCCGATTCCTCCTCAGCCCTTGGCATCCACTAGTCCACTTTTTTCTCTTTTTTTTTTTTGAGACTAATGCTAGTTTAACAAGTAGTCTGCTTTTTGTCTCTGTAGATTTGCCTATTCTGGACATGTCATAAAAATAGAATCAGCCAGGCGCCATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGCATACCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCTGAGATCACGCCACTGTACTCCAACCTGGGCAACAGAGCAAGACTTCATCTCAAAAAAAAAAAAAAAACCAAAACATACACTATTGTGTCTAGTCTAGTGCATAGCTAAGTAACTTGCTAAACAGTTTGATTCTTCCAAGGCTTGCTTTACACTTTGTTATGCCTTCTGTGACTAGCCCTTTTCACTTAGTGTAATGTTTTAAAGTTTCATCTGTGTTTTAGCACATGTGAACCATTCATTCCTTTGCATTGCCAAATAATACTCCTTTTTTGGATATACTTCATTTTGTTTATTCACCAGTTGATGGACTTTTGGGTTGCCTCCGCATTTGGCTATTATGAATAGTGCTACTGTGAACATTTGTGTACAGTTTTTTTGTGTGAACGTATGGTTGCATTTCTCTTGAGTATATATATACATGTAGGAGTGGAATTGGCTAGGGCATATGACAATTCTACTTTTAACCTTTTGAGGAACTGCCAGACTATATTCTAAAGTAGCTGCACTATGTTACAATCCCACCAGTAATGTATGAGGGAATTTTCCACATTCTTGCCAACACTTGTCCTTTGTCTTTTTTGTTATAGCCATCACAGTGGCTGTGACGTAGTATCTGATTGTGTCGTTTTGATTTGCTTTCCCCTGGTGACTAACGATGTTGAGTATCTTTCCATGTGCTTTTTTTTAACTTTTCTTTTTTCTTTCTTTTTTTTTTGTTGTTGTTTTTAAGAAAGGG
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TAAAAAAAAAAAAAAAATTGGAAAGTAGGTCTGTGTTTTTATCTGGTCACATTCAGCAGTATGGGTGCAGGTGTAGAACAGGTGAATGGAAAAACTAAGAGGAACTCTGGGACAGCTTTTTAAAGAATCTAGACCTACTAAATGTTATGTTAACAAGCTTTACTATTAGCAGAGAATGCATACTGTTTTGGTCGACTGGTGAAAATTCTTAGTCTGATTCCTGTTGTCTCATTTTACTTCTGTTTAGGTCCCAGGAGTTTAGGTGTGTGTTAGTTTGCGTTGCTCCTGCGATTTACCATGTATTTGATCATGTCTCAGGTTGATCTTCACTCGAAAAGGGGTACTCCGTGTGGAGGGGTTTTTAAGCCCCCAGCAAAGTGACCCTGATGCCATGAACCTGTGGATTCCCTCTTCCTCCCTAGCAGAAGGGATAGATCTAGAGACCTCAAAATACATCCTGGCCAATGTTGGGGACCAGTTCTGCCAGCTCGTAATGTCTGAGAAGGAGGCCATGATGATGGTGGAGCCACACCGTAAGTCACCTTCTCACTTGTCTTCCAGGTGCTCCTAGTGAAAAACTTTTATTTTCTTTCACTTAACGGGAAGATTGGGGACAGTGGCAGATGGCATTTTCTGTGAATGAATTAAGACCGATAAGACTTCTCTTTGTAGCAACCTGTCGTTGAGACCTTAACTATATCCAGCAGACCTCATTCTTTCAGTCTTTGGCAATTAACAAACCAAATACTCCTTCTCTGCTTGCCTTTGTTTTTGTAGCACAGCAGCCATAACATCCATTTAAATTCCCATTTGGGTTTGCCTCACTCTGAATATTTTCAGTTTGCTTTGAACCAATTTGTATTAATAAGCTCTGTGGTTTGTAAATAGATGGTGTGCTACTAGGTGCCATGTTTCATACCTAGAACCCACATTATTCATACATTTCAAATATTTCCATGTCTGTAAGATACTATGCCCTATTTTCCAGACTAAGAAAAATTATACTGTGAAATTATATCCTAAATTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCACACCATTCTCCTGCCTCACCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCACCAAGCCCGGCTAATTTTTTGTGTTTTTAGTAGGGACAGCGTTTCGCCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCAGCCTTCCAAAGTGCTGGGGTTACATGTGTGAGCCACCGCGCCCGGCCCTGTATCCTAAATTTCAAGGGAGGAATCCTCTTATTTTTAAACTCCCCCAGTTAAAAATTTTTCAATTCCGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGTGAATGGTATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGATGACAAAGCGAGACCCCATCTCAAAAAAATATATATATATATTTTTTTACAATTCCTTAAGTGACAACATGTGGCAGTAATTCCTTTTTGACAATAGGTTATATCCTGGTATTACCATGAGCCCTTGAAATACCATTATATTATAAATAAGTTATATAGTCTCTTTGTTCAGAAATACTAGAAATTATTGTATTTTGTTTCTCCTACAATTATAGAAACACAGACTTTATGAATCTTTGAGTTTTATTGCTGAACAAAATAGCTTGAGTAGGGATCAGTGGGTCTGGGGTCTTTTGTTATTGGTCAGGATGATCAATGCCAATTCTGTTTCCTCTTTCCACCAGAGAAAGTGGCATGGAAGCGAGCTGTGCGTGGTGTACGGGAGATGTGTGTTGTGTGTGAAACAACTCTCTTCAACATCCACTGGGTTTGTCGCAAATGTGGATTTGGGGTCTGCCTTGACTGTTACCGGCTCAGGAAAAGCCGGCCACGCAGTGGTAAGTAAACATTGTCCTGTGTAGCTCGAAAGGTAACGTGGAGGTATGTCCAAGATGTTGTGGGATTTGAAAATTGAGGCAGGAATGGGCTTATGCCTCTCTTTAGCTGCTTGGCTTCATTCAACTTTGTTGTATTTTAAGACCTTAAAATGGCAAATATTTAGCCTAGGAAGGCTGAAACAAGACAAGAAGGATTATTCTTAATTTTTCCTTGGTTTTTTTTTTGTTTTTGTTTTTTTTAAGGCAGATTCTCGCTCTGTTGCCCAGGTTGGAGCGCAGCGGCACAATCATGGCTTACTGCACCCTTGACCTAGGCTCAAGTGATCCTCCTCGACCTCTCAGAGTGCTGGGAATCATAGGCATGAGCCACCGTACCTGTGTTTTTTTTTAAATAACATCTTTATTGAGATGTAATTCACATGCCATAAAATTCACCCCTTTTAATGTGTACAAGGCTTAGCGTGGTGGCTCATGCCTGTAATTCCAGGACTTTGAGAGGAAGATAGGAGGATCACTTGAGGCCGGGGGTTTGAGACCAGTCTGGGTAACACAGCAAGACCCCATCTCTACAAAATAAAATAAAATTAGCTAGCTAGATATGGTGGCACATGCTTGTAGTCACAGCTACTCAGGAGGCTGAGGCAGGAGGATCACCTGAGCTCAGAGTTTGAGGTTATAGTGAGCTATGATCATACCACTGCACTCCAGCCTGGACAACAGAGTGAGACCTGTCTAAAAATCAATTAAAGTAAATCTACAAGGTTGTACAGCCATTATCTAATTCCATTTTCATCACCCCACACCCCACCTGACAACCCATACCTGTTATCAGTCACTGCCGATTCCTCCTCAGCCCTTGGCATCCACTAGTCCACTTTTTTCTCTTTTTTTTTTTTGAGACTAATGCTAGTTTAACAAGTAGTCTGCTTTTTGTCTCTGTAGATTTGCCTATTCTGGACATGTCATAAAAATAGAATCAGCCAGGCGCCATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGCATACCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCTGAGATCACGCCACTGTACTCCAACCTGGGCAACAGAGCAAGACTTCATCTCAAAAAAAAAAAAAAAACCAAAACATACACTATTGTGTCTAGTCTAGTGCATAGCTAAGTAACTTGCTAAACAGTTTGATTCTTCCAAGGCTTGCTTTACACTTTGTTATGCCTTCTGTGACTAGCCCTTTTCACTTAGTGTAATGTTTTAAAGTTTCATCTGTGTTTTAGCACATGTGAACCATTCATTCCTTTGCATTGCCAAATAATACTCCTTTTTTGGATATACTTCATTTTGTTTATTCACCAGTTGATGGACTTTTGGGTTGCCTCCGCATTTGGCTATTATGAATAGTGCTACTGTGAACATTTGTGTACAGTTTTTTTGTGTGAACGTATGGTTGCATTTCTCTTGAGTATATATATACATGTAGGAGTGGAATTGGCTAGGGCATATGACAATTCTACTTTTAACCTTTTGAGGAACTGCCAGACTATATTCTAAAGTAGCTGCACTATGTTACAATCCCACCAGTAATGTATGAGGGAATTTTCCACATTCTTGCCAACACTTGTCCTTTGTCTTTTTTGTTATAGCCATCACAGTGGCTGTGACGTAGTATCTGATTGTGTCGTTTTGATTTGCTTTCCCCTGGTGACTAACGATGTTGAGTATCTTTCCATGTGCTTTTTTTTAACTTTTCTTTTTTCTTTCTTTTTTTTTTGTTGTTGTTTTTAAGAAAGGG
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Task1_train_9531
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Given this context: Chromosome 5, gene KDM3B (lysine demethylase 3B) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Diets-Jongmans syndrome
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ATGGATTATACAACTAGGAAAGAACAGTAGAGCTTCCTGGAGAAGAGGAGGCCCTCCTCAGGAAACCCTCCTATTCTGTCTCAGCCCTAGAGCTGGAAGTTTTTCCTAGATTGCTCTGATTGGGATATTTTTGTTTCCACAGCCAGTGCTGGTTTCGGGGGTACATAAAAAGCTCAAGTCTGAGCTCTGGAAGCCAGAAGCCTTTAGCCAGGAATTTGGAGACCAGGATGTAGACTTGGTGAACTGCAGGAACTGTGCTATAATTTCCGATGTGAAAGTTCGGGATTTCTGGGATGGTTTCGAGATCATATGCAGTAAGTAGCTTTCATATCTAGTTCAGTGATAGCAGACTGGAAAATAAGCATCTATACGCCCAGCTCTGCCCTTGAATAATAAATTATATTCTGGGGCATAATGGGACTTGAAAAAATAAATGAATAAAAAATTAAAAACAGACAGCCGGGCGTGGTTGCTCGCTCCTGTAATTTCAGTCTTTTTGGAGGCTGATGTGTGGATCACTTGGGGTCAGGAGTTCAAGACCAGCCTGGCCAACTTAGCGAAACCCCACCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGTGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAGTCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTGCTCTCCAGCCTCGGTGATGGAGTGAGACTGTCTCAAAAATAAATAAATAAATAAATCCAAATTATACCCACTTGGTGGGGGAACATTCTGCCCTGGTGCCAACTGTGTAGCTTACATGGCAATCACATGACTCCCAGAGCATGCCTGGACTTAATCATGTGATTCCATGGGCTATGCAGAGCACTTTCACTCTGAGGAATGGGGATAGAATCCCCGTAAGATGGAAAAATAAGACACACACTAAAGTAGCAAGTGAGGAAAACAAAGCCCACCTTGTCCATTATGGGGGTTTACAAGTCTGAAATAAAAGGTTAATCTCCCAGGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTAAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGACACCTATAGTCCCAGCTACTCGGCAGGCTGAGCCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGGGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGATTAGTCTCCTAGGCTGGGCGCAGTGCCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGTTGCCTGTAATCCCAGCTACTCAGGGAGAATCGCTTGAACCCGGGAGGCCAAGATCATGCCACTGCACTGCAGCCCGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAAAAAAAGAGATTAGTCTCCCAAAAGTTACTGTTGAAAATCGGACACCAGCCAAACCAGCAGATGTTTGTGGGAGTATTCTCTGTCTTCCAGAACGACTACGGTCAGAAGATGGGCAGCCAATGGTGCTCAAACTCAAGGACTGGCCTCCTGGGGAAGATTTTCGAGACATGATGCCAACCAGGTTAGTGACCTGCAGTGGTGTCATCTTCAGAAGCCATCACAAAGTAATCACAGAAAAGTGAAATTTGTCTATTGGCTTTCTTCCCCTATAACAAGCTAAGTCATCTTTCCTGCACTTTTATAGGTTTGAAGATCTGATGGAGAACCTTCCTCTGCCAGAATATACCAAACGAGATGGCAGGCTCAATCTGGCCTCTAGGCTACCTAGCTACTTTGTAAGGCCTGATCTGGGCCCCAAGATGTACAACGCCTATGGTATGAGGGAGAGGCTAAAATTGCTCTTTTGGGGGACTGTTGTTCTTATTTCAACTATAGAAGGATATCTGTGGTCAATGTCAGGTATAGAGATGATTGCAGGCAAGTGCTGGAGAAGTGAATAGTATCCAAGGTGGTCTTGAATATGTTTGCTTTTGTCATATTGGTTTTCATAACATCCATGTGGGCCCAGACCATAAGCTTACATGTCTCCAGTAGTGAGGAAGTTTCCTGTTAAGAACTCTACCCAAGGAGCCATATTCTCGAGTATAAGAGACTTGACAGAATAATAATGAAGAGGTCTGGGTGCCATGCTACCCAGCCAGTGCTTTGTTAAGGCCAGGGATGACCTAAATCACAGTGAAAGCTCAGCTTTATCTGAATACGCCCTAATGCCCATATCTGTTTTGTTTTTCATGGAGAGATTGTTTTTTGGAGGTAGATTTGTTCCATGGCCAGTGTCAATGAGAAATCAGTCTTAAAACAGTATAAAAGAGATGAAAGTGATTTCTTCATAAACAAATAGACTTCACTCTCCTAATTTTACTCATTTAACAACACCCTTGAGCATGTTTTCAGATGTAGTGTCGACGTGGATTCTTCCAAATATTGGCCCTTCACCTTGCATATTTTCCTTTCTCCTTTAGGGTTGATAACAGCAGAAGATAGAAGAGTTGGTACAACAAATCTTCACTTAGATGTGTCTGATGCTGTTAATGTGATGGTGTATGTTGGGATTCCCATCGGGGAGGGTGCTCATGATGAAGGTATGCTTTCTAGAATCCACTGCTTTAGGATGGTGAGGCTTTGTCTTGGGAATACAGTTTTGTGTTTTCATCCTTAGGGCCAGTGGCTTTTCCTTTTTTTTTTCTTTTTCTTTTTTCTGTTTTTTTTTTTGGGGGGCGGGGAGGCAGAGTCTCGCTCTGTCCCCCAGGCTAGAGTGCAGAGGTGCGATCTTGGCTCACCGCAACCTCCGCTGCCTCCCACGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGTCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACTGCACCCGGCTTCTTTTTTCTTTTCTTATTCCCCTGGTGGCTTTTTCTTGTTTCTTCCAGGTCTGATGGGAAGTGGGTGCCCAGTGGATGTTGCTAGATAAAGGGGGAGGTTCTAATAGAGAAGAGTACTACTTTGCGTATCTTTGACTAGAGTCTCTTTCTAGAAATGCTACCCTTTTCCACTTTGTAGCCTCACAAAGAGAAATGAAGAAAGGGCAGAGTTCTGACCTGACCTATCAGCCAGATCAGCTGTGGAGTGACAGATGATAAAGCCAGGACCTTCATAAAAATGAAGCATAAAAGTGATATTTTGCTGTATTTATACTTCCTGCCATCTCAGTGTTAAAATTAATACATGTTCATTATGGAAATTTCAGAAAAAGGGATACTTTTTTAAAAGAAAATAAGTAACTCAAAATCTTAAGGTTCAGGGATAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTATGTTGCCCAGACTGGCTTCAGACTCCTGGGCTCTGGCATTCCTCCCACCTCAGCCTCCCAAGTTACTGGGCCTACAGGCAAGGCCACTGTGCCTCACTTTACATTTGCCTTTTTTTCTTTTCTTTTTTTGTTTTTTTATTTTTTCTGCAACTTCCGCCTCCTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATACTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTGTCACCATGTTGGCCAGGCTGGGCTCGAACTCCCAATCTCAGGTGATCCGCCCACCTCAGCCTCTCAAAGTGCTGGGATTATAGACATGAGCCACCATGCCCAGCCTACATTTGCCTTG
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ATGGATTATACAACTAGGAAAGAACAGTAGAGCTTCCTGGAGAAGAGGAGGCCCTCCTCAGGAAACCCTCCTATTCTGTCTCAGCCCTAGAGCTGGAAGTTTTTCCTAGATTGCTCTGATTGGGATATTTTTGTTTCCACAGCCAGTGCTGGTTTCGGGGGTACATAAAAAGCTCAAGTCTGAGCTCTGGAAGCCAGAAGCCTTTAGCCAGGAATTTGGAGACCAGGATGTAGACTTGGTGAACTGCAGGAACTGTGCTATAATTTCCGATGTGAAAGTTCGGGATTTCTGGGATGGTTTCGAGATCATATGCAGTAAGTAGCTTTCATATCTAGTTCAGTGATAGCAGACTGGAAAATAAGCATCTATACGCCCAGCTCTGCCCTTGAATAATAAATTATATTCTGGGGCATAATGGGACTTGAAAAAATAAATGAATAAAAAATTAAAAACAGACAGCCGGGCGTGGTTGCTCGCTCCTGTAATTTCAGTCTTTTTGGAGGCTGATGTGTGGATCACTTGGGGTCAGGAGTTCAAGACCAGCCTGGCCAACTTAGCGAAACCCCACCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGTGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAGTCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTGCTCTCCAGCCTCGGTGATGGAGTGAGACTGTCTCAAAAATAAATAAATAAATAAATCCAAATTATACCCACTTGGTGGGGGAACATTCTGCCCTGGTGCCAACTGTGTAGCTTACATGGCAATCACATGACTCCCAGAGCATGCCTGGACTTAATCATGTGATTCCATGGGCTATGCAGAGCACTTTCACTCTGAGGAATGGGGATAGAATCCCCGTAAGATGGAAAAATAAGACACACACTAAAGTAGCAAGTGAGGAAAACAAAGCCCACCTTGTCCATTATGGGGGTTTACAAGTCTGAAATAAAAGGTTAATCTCCCAGGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTAAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGACACCTATAGTCCCAGCTACTCGGCAGGCTGAGCCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGGGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGATTAGTCTCCTAGGCTGGGCGCAGTGCCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGTTGCCTGTAATCCCAGCTACTCAGGGAGAATCGCTTGAACCCGGGAGGCCAAGATCATGCCACTGCACTGCAGCCCGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAAAAAAAGAGATTAGTCTCCCAAAAGTTACTGTTGAAAATCGGACACCAGCCAAACCAGCAGATGTTTGTGGGAGTATTCTCTGTCTTCCAGAACGACTACGGTCAGAAGATGGGCAGCCAATGGTGCTCAAACTCAAGGACTGGCCTCCTGGGGAAGATTTTCGAGACATGATGCCAACCAGGTTAGTGACCTGCAGTGGTGTCATCTTCAGAAGCCATCACAAAGTAATCACAGAAAAGTGAAATTTGTCTATTGGCTTTCTTCCCCTATAACAAGCTAAGTCATCTTTCCTGCACTTTTATAGGTTTGAAGATCTGATGGAGAACCTTCCTCTGCCAGAATATACCAAACGAGATGGCAGGCTCAATCTGGCCTCTAGGCTACCTAGCTACTTTGTAAGGCCTGATCTGGGCCCCAAGATGTACAACGCCTGTGGTATGAGGGAGAGGCTAAAATTGCTCTTTTGGGGGACTGTTGTTCTTATTTCAACTATAGAAGGATATCTGTGGTCAATGTCAGGTATAGAGATGATTGCAGGCAAGTGCTGGAGAAGTGAATAGTATCCAAGGTGGTCTTGAATATGTTTGCTTTTGTCATATTGGTTTTCATAACATCCATGTGGGCCCAGACCATAAGCTTACATGTCTCCAGTAGTGAGGAAGTTTCCTGTTAAGAACTCTACCCAAGGAGCCATATTCTCGAGTATAAGAGACTTGACAGAATAATAATGAAGAGGTCTGGGTGCCATGCTACCCAGCCAGTGCTTTGTTAAGGCCAGGGATGACCTAAATCACAGTGAAAGCTCAGCTTTATCTGAATACGCCCTAATGCCCATATCTGTTTTGTTTTTCATGGAGAGATTGTTTTTTGGAGGTAGATTTGTTCCATGGCCAGTGTCAATGAGAAATCAGTCTTAAAACAGTATAAAAGAGATGAAAGTGATTTCTTCATAAACAAATAGACTTCACTCTCCTAATTTTACTCATTTAACAACACCCTTGAGCATGTTTTCAGATGTAGTGTCGACGTGGATTCTTCCAAATATTGGCCCTTCACCTTGCATATTTTCCTTTCTCCTTTAGGGTTGATAACAGCAGAAGATAGAAGAGTTGGTACAACAAATCTTCACTTAGATGTGTCTGATGCTGTTAATGTGATGGTGTATGTTGGGATTCCCATCGGGGAGGGTGCTCATGATGAAGGTATGCTTTCTAGAATCCACTGCTTTAGGATGGTGAGGCTTTGTCTTGGGAATACAGTTTTGTGTTTTCATCCTTAGGGCCAGTGGCTTTTCCTTTTTTTTTTCTTTTTCTTTTTTCTGTTTTTTTTTTTGGGGGGCGGGGAGGCAGAGTCTCGCTCTGTCCCCCAGGCTAGAGTGCAGAGGTGCGATCTTGGCTCACCGCAACCTCCGCTGCCTCCCACGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGTCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACTGCACCCGGCTTCTTTTTTCTTTTCTTATTCCCCTGGTGGCTTTTTCTTGTTTCTTCCAGGTCTGATGGGAAGTGGGTGCCCAGTGGATGTTGCTAGATAAAGGGGGAGGTTCTAATAGAGAAGAGTACTACTTTGCGTATCTTTGACTAGAGTCTCTTTCTAGAAATGCTACCCTTTTCCACTTTGTAGCCTCACAAAGAGAAATGAAGAAAGGGCAGAGTTCTGACCTGACCTATCAGCCAGATCAGCTGTGGAGTGACAGATGATAAAGCCAGGACCTTCATAAAAATGAAGCATAAAAGTGATATTTTGCTGTATTTATACTTCCTGCCATCTCAGTGTTAAAATTAATACATGTTCATTATGGAAATTTCAGAAAAAGGGATACTTTTTTAAAAGAAAATAAGTAACTCAAAATCTTAAGGTTCAGGGATAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTATGTTGCCCAGACTGGCTTCAGACTCCTGGGCTCTGGCATTCCTCCCACCTCAGCCTCCCAAGTTACTGGGCCTACAGGCAAGGCCACTGTGCCTCACTTTACATTTGCCTTTTTTTCTTTTCTTTTTTTGTTTTTTTATTTTTTCTGCAACTTCCGCCTCCTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATACTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTGTCACCATGTTGGCCAGGCTGGGCTCGAACTCCCAATCTCAGGTGATCCGCCCACCTCAGCCTCTCAAAGTGCTGGGATTATAGACATGAGCCACCATGCCCAGCCTACATTTGCCTTG
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Task1_train_9532
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Chromosome 5 houses a mutation in gene KDM3B (lysine demethylase 3B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Diets-Jongmans syndrome
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GGGTCTTGAGAAAATATACAGACTCCATATACTTGTAGCGGAAGATAACCTGCAAGTTAAACATAAGATATGGCAACACAGTTTAAGCAAAAAATATGTTTTAAGGGGAAATTATACCTCCAAAAATGCTGAATCTCTAATAAGTAAGGAAGGTTTAATGTTGTTCTGTGTGTAGGGAGCTTAGACCAGTATCAATTTTCTGATTCTGCCTTACATTATTCCAGAGATGGAGAAGAGTAAAACTCAATTTATTTAAATTGGACATTTCATTTCACTCAGTGGTACTGAAATGGCTGACTACATTGAAAGTGTCATTTTGCTCTTTTCAGAGGTACTCAAGACAATTGACGAGGGAGATGCCGATGAGGTGACGAAGCAGAGGATTCATGATGGAAAAGAGAAGCCAGGTGCTTTATGGCACATCTATGCAGCCAAGGATGCAGAGAAGATCCGGGAGCTGCTCCGAAAGGTACGCCCCTGGGTGGGCTGTGCTCCCAGCTCACATATCAAGAGTCTCGTTGCTGAGACACCCTATCTAGGGTTTCTCATGTAGAGTCCCTTGGCATTAAAGACTTGTTGGCCATGATACCTCTGGTGGAAAAGCCCAAAGGCTTGAATCCACACCTAGAGGATGTTGACTAGAATAAAGTTTTGCCATCCCCACCCCATCTTAGGACATTGCTGCAGCAAGTTGGATTTATGCTGTTAATGATTTTTAATTTTCCCATCTTTGGATTTGATTATGGCTTCAGGTTGGAGAAGAACAAGGCCAAGAGAACCCCCCTGATCATGACCCAATTCATGACCAAAGTTGGTACCTGGACCAGACCCTCCGTAAGCGACTCTATGAGGAGTATGGCGTGCAAGGCTGGGCTATTGTGCAGTTCCTAGGTGATGCTGTTTTCATACCTGCTGGAGCCCCACACCAGGTGGGTTCCTGCTTGGGGGTTGGGCTGAACAGTTCCATGGGCTTTCTTATTTCTGCTTTTCTTGCTAATCTACCAAGAGATTTAAGTAGCTGGATTGGACTGATCTCTCTTATGCTGCAACTTATTTTATGCTTTTATTTTCTTCCTTGTAACATTAAGGCTCATTTAAAAAATTTTAAACAGGGCGGTCCTGGTAGCTCAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTTGGGAGTTCAAGATCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGGCAGGCATGGTGGCACATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCAGTCTCAAAAAAAAAAAATTTAAACAATGCAAGCTATTAAAGAAAAAGTGACAAGTCCTAGCTCAGCTACTTGTAGCATACTCTTCTTATCAATCCCCTTATCCTACCTTCCCAATCTAGTTTCTTTCCTCAGAGATAGCCTACTGTTAACAGTTTGGTGTATATTTTTCCAGAACATTTTCTGTGCAAATACTGATATTTTTATGTATTTCTTTTTTCCTTTTTCTTTTTTTTTGTTTTTTTGGTAGAGACGGGGTTTCGCCATATCACCGTATCAAGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCAACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCATTGCTTTTATTTATACATTTGCACTTACAGCTTTTCTGTGTTGTTATAAAAATGGAAATATTATACCTATTTCTCAAGGGTTTTTTTAACTATATCATGGACATTTTCCATATGTTATTGAATCTCTAATGTCTGATATTTCTCCTCTGCACTTTGCCCTTCTCAGGTTCACAATCTATACAGTTGCATAAAAGTAGCAGAAGACTTTGTATCTCCAGAACATGTAAAGCACTGTTTCCGCCTGACTCAGGAATTCAGGCATCTCTCTAACACTCATACAAATCATGAGGATAAACTGCAGGTAAATAACTCCTCCCTCTACCCCACTCTGTCTTCTCATTGCATACTCACATACATTACGCAGAAAGCACATTCTCCTTTCTGAGGGTATTCTCCGAAGGTCTAATTGTGGAGGAGAAATGATGCAGGGAAGAAGTTTGGGGATATGGAGTCCTTTTAGGAAGCATTTAATTTTTTTTTAAGTTTTTCTTCTTTTTTACAAAAATTAGCAGGGCATGATGGCGCATGCCTGTAGTCCCAGCTACTCAGGAAACTGAGGCAGGAGAATTGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCCATCTCAAAAAAAAAAAAACAAAAAACAGTTTTTCTTCTTTTTAATAGAATGGGGTCTATGTTGCCCAGGCTGCTCTCAAACTACTGGGCTCAAGAGATCCTCTCACCTCAGCTTCACAAAGTACTGGGAATACAGGTGTGAGCCACTGCTTAACCTAATCATTTCTGTTGTGACAGTCCTCATTTCTGTCCGTTTCAGAGTTATAGTATTACAAGTGTTAGTAACTAACTAGACTGACCTCCCCAAACAGGTGGAAAAAGCACTATGGCAGTGTGTTCTAAGCATGTTTCTGAGAAGAAATATTGCGCTGAAGCTGCTTCTCATAGCAGATTTCTATGCAGACTCAATTTCTTAGAGCTCTGCTAGGGATTACAGTTCATGTCCCTAAGAACTGTATCCCCTTGTAGAGCAGAGCTGAACAATCAGATTAGGTTTCCTCTGCTCTTGAAATGGATTGGAATTTTAAGGGCAGAATTTCATCATTAATACACTTAGGTACTTTAGTTGCATAAAAAGAACAAAGAGGGCTGGGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGTTGATACCCCATCTTTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACCGTCTCAAAGAAAAAAAAGAATAAGGAAGCAGAATTCTCTAGGCTTTCACTGTGGCCTCTTTTCTTCTGGCATGCCTGTGGCTCAAGTGTATCTTTTTTGGTTGTTGATAGATCAGATTGAAGAGGTTTTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGTCCACCACCACGTCCAGCTATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCGCCTGACCTCGTGATCCGCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTGAAGAGGTTTTTCTTAATTGCTGGTAGATTCAATCACCTTCAACTCTGAGTCTGATGCACTTTTCCTTTCTTTTTTTTTTTTTTTGAGACAGATTCTCAGTCTGTCACCCATGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCATCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCACCTGCCACTGTGCCCGGCTAATTTTTGTAGTTTTTTAATAGAGACGGGGTTTCACCATCTTGGCCAGGCAGGTCTTGAACTCCTGACCTCATGATCCACCCGCCCTCGGCCTCCCAAAGTGCTGGGATTACGGATGTGAGCCACTGCGGCTGTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCACCCAAATGAAAGTGCAATGGTGTGATCTTGGCTCAACTGCATCCTTCGTCTCCTGGGTTTAAGTGATTCTCCTGCCTCAGCCTCCCATGTAGCTGGGATTGCAGGCATGCACCACCATACCCAGATAATTTTTGTATTTTTTGGTA
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GGGTCTTGAGAAAATATACAGACTCCATATACTTGTAGCGGAAGATAACCTGCAAGTTAAACATAAGATATGGCAACACAGTTTAAGCAAAAAATATGTTTTAAGGGGAAATTATACCTCCAAAAATGCTGAATCTCTAATAAGTAAGGAAGGTTTAATGTTGTTCTGTGTGTAGGGAGCTTAGACCAGTATCAATTTTCTGATTCTGCCTTACATTATTCCAGAGATGGAGAAGAGTAAAACTCAATTTATTTAAATTGGACATTTCATTTCACTCAGTGGTACTGAAATGGCTGACTACATTGAAAGTGTCATTTTGCTCTTTTCAGAGGTACTCAAGACAATTGACGAGGGAGATGCCGATGAGGTGACGAAGCAGAGGATTCATGATGGAAAAGAGAAGCCAGGTGCTTTATGGCACATCTATGCAGCCAAGGATGCAGAGAAGATCCGGGAGCTGCTCCGAAAGGTACGCCCCTGGGTGGGCTGTGCTCCCAGCTCACATATCAAGAGTCTCGTTGCTGAGACACCCTATCTAGGGTTTCTCATGTAGAGTCCCTTGGCATTAAAGACTTGTTGGCCATGATACCTCTGGTGGAAAAGCCCAAAGGCTTGAATCCACACCTAGAGGATGTTGACTAGAATAAAGTTTTGCCATCCCCACCCCATCTTAGGACATTGCTGCAGCAAGTTGGATTTATGCTGTTAATGATTTTTAATTTTCCCATCTTTGGATTTGATTATGGCTTCAGGTTGGAGAAGAACAAGGCCAAGAGAACCCCCCTGATCATGACCCAATTCATGACCAAAGTTGGTACCTGGACCAGACCCTCCGTAAGCGACTCTATGAGGAGTATGGCGTGCAAGGCTGGGCTATTGTGCAGTTCCTAGGTGATGCTGTTTTCATACCTGCTGGAGCCCCACACCAGGTGGGTTCCTGCTTGGGGGTTGGGCTGAACAGTTCCATGGGCTTTCTTATTTCTGCTTTTCTTGCTAATCTACCAAGAGATTTAAGTAGCTGGATTGGACTGATCTCTCTTATGCTGCAACTTATTTTATGCTTTTATTTTCTTCCTTGTAACATTAAGGCTCATTTAAAAAATTTTAAACAGGGCGGTCCTGGTAGCTCAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTTGGGAGTTCAAGATCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGGCAGGCATGGTGGCACATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCAGTCTCAAAAAAAAAAAATTTAAACAATGCAAGCTATTAAAGAAAAAGTGACAAGTCCTAGCTCAGCTACTTGTAGCATACTCTTCTTATCAATCCCCTTATCCTACCTTCCCAATCTAGTTTCTTTCCTCAGAGATAGCCTACTGTTAACAGTTTGGTGTATATTTTTCCAGAACATTTTCTGTGCAAATACTGATATTTTTATGTATTTCTTTTTTCCTTTTTCTTTTTTTTTGTTTTTTTGGTAGAGACGGGGTTTCGCCATATCACCGTATCAAGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCAACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCATTGCTTTTATTTATACATTTGCACTTACAGCTTTTCTGTGTTGTTATAAAAATGGAAATATTATACCTATTTCTCAAGGGTTTTTTTAACTATATCATGGACATTTTCCATATGTTATTGAATCTCTAATGTCTGATATTTCTCCTCTGCACTTTGCCCTTCTCAGGTTCACAATCTATACAGTTGCATAAAAGTAGCAGAAGACTTTGTATCTCCAGAACATGTAAAGCACTGTTTCCGCCTGACTCAGGAATTCAGGCATCTCTCTAACACTCATACAAATCATAAGGATAAACTGCAGGTAAATAACTCCTCCCTCTACCCCACTCTGTCTTCTCATTGCATACTCACATACATTACGCAGAAAGCACATTCTCCTTTCTGAGGGTATTCTCCGAAGGTCTAATTGTGGAGGAGAAATGATGCAGGGAAGAAGTTTGGGGATATGGAGTCCTTTTAGGAAGCATTTAATTTTTTTTTAAGTTTTTCTTCTTTTTTACAAAAATTAGCAGGGCATGATGGCGCATGCCTGTAGTCCCAGCTACTCAGGAAACTGAGGCAGGAGAATTGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCCATCTCAAAAAAAAAAAAACAAAAAACAGTTTTTCTTCTTTTTAATAGAATGGGGTCTATGTTGCCCAGGCTGCTCTCAAACTACTGGGCTCAAGAGATCCTCTCACCTCAGCTTCACAAAGTACTGGGAATACAGGTGTGAGCCACTGCTTAACCTAATCATTTCTGTTGTGACAGTCCTCATTTCTGTCCGTTTCAGAGTTATAGTATTACAAGTGTTAGTAACTAACTAGACTGACCTCCCCAAACAGGTGGAAAAAGCACTATGGCAGTGTGTTCTAAGCATGTTTCTGAGAAGAAATATTGCGCTGAAGCTGCTTCTCATAGCAGATTTCTATGCAGACTCAATTTCTTAGAGCTCTGCTAGGGATTACAGTTCATGTCCCTAAGAACTGTATCCCCTTGTAGAGCAGAGCTGAACAATCAGATTAGGTTTCCTCTGCTCTTGAAATGGATTGGAATTTTAAGGGCAGAATTTCATCATTAATACACTTAGGTACTTTAGTTGCATAAAAAGAACAAAGAGGGCTGGGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGTTGATACCCCATCTTTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACCGTCTCAAAGAAAAAAAAGAATAAGGAAGCAGAATTCTCTAGGCTTTCACTGTGGCCTCTTTTCTTCTGGCATGCCTGTGGCTCAAGTGTATCTTTTTTGGTTGTTGATAGATCAGATTGAAGAGGTTTTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGTCCACCACCACGTCCAGCTATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCGCCTGACCTCGTGATCCGCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTGAAGAGGTTTTTCTTAATTGCTGGTAGATTCAATCACCTTCAACTCTGAGTCTGATGCACTTTTCCTTTCTTTTTTTTTTTTTTTGAGACAGATTCTCAGTCTGTCACCCATGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCATCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCACCTGCCACTGTGCCCGGCTAATTTTTGTAGTTTTTTAATAGAGACGGGGTTTCACCATCTTGGCCAGGCAGGTCTTGAACTCCTGACCTCATGATCCACCCGCCCTCGGCCTCCCAAAGTGCTGGGATTACGGATGTGAGCCACTGCGGCTGTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCACCCAAATGAAAGTGCAATGGTGTGATCTTGGCTCAACTGCATCCTTCGTCTCCTGGGTTTAAGTGATTCTCCTGCCTCAGCCTCCCATGTAGCTGGGATTGCAGGCATGCACCACCATACCCAGATAATTTTTGTATTTTTTGGTA
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Task1_train_9533
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Assess the clinical impact of this variant on gene REEP2 (receptor accessory protein 2), found on Chromosome 5. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Hereditary spastic paraplegia 72
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ACCTAAAGGCGCTGCGTCCTTATTTGGGGCCCCCAGAGACATGGAGATGTGGCACCCAGGACTGGAGGGGGGAATATTAGGGGAGCGTGGCAGGCCTGGCTTCCCAGGGACCTCACCCACATTCTTTATTAATAACCTCTTTTATTTCTACCGTCCTTGCTCCTGCGCCCATCCTAGAGGCTGAGCAGCACGGCTTGATTTAAAAGGGGAGGCAGGCGCGTCCCCTCCCCCACCTAGCAGGTCTGGGCTGGAGGAGATCCTCAGACCCGGGCCCTGTCCCTCTGGGGGAGGTAACAGGGTGATGGAAGAGAGTGGAGCAAGGCAGGGCCTCATCATCATTCCGCAGCTCAGAGCCATCACCAGGCCCCTTGGTCTCTCCCTTCCACTCACTGTCAGGAGACTGGGGACGAGGGCATATGCCCTTAGGCCCCCTAGGGAGGAAGTCTGGGTATCGGGAAGCAGAAATGCTCGGAGGACAAAGTGTGAGAGGTAACTGGGAGAGGGGATGTGTGTGCTCAGCCTGGGATTGTGGACCCCGCTGGGGGAGGACGCTCCGTGGCCTTCATTCCAGGCTGCCAGCCACACTGTGGAGCTGTGTCTCTGGCACCTCCCCGGGCCCCAGGAGGGAACACACACCATTCCCCACGAGCCCAGACTTTGTCCTTGAGGATTCTGCTCCGCACTCCACTTGCACCAGCCGGTTTGGAAGTATCCCTCCTGTCCATGTGGAAACAGGCGACAGCCACACATTGTCAAGGGGCTGAGCCTGACAGGGGCTCCTCGTGGTTCTCGGAGCTATCCCCTGCCCTAATGAGGACACTGCCCCTCGGCCTCCACCGTTGGGGACTGACACCGGCAGCCCCACCCTGCTCCCTTCTTCCCATTCGGTACAGCCGGGCCGGCCAAGTGCTTCTGTCCTGGTTTACTCTAGACTCCTTCTCTTCCCCCACCCATCCCAGGGGGAATGGAGGGGCCTCACGCCTCCATGTGGCCTTCAGGGTGGCTGCTTCTCTCTTGCCTGGGCAAGCCCCAAAGGGCATCGGTCCTCTTCTTTCCCGGCCTGTGTCTTGTCTGCATTCTGTACTTGGATCACCAGCGGGGCCCTCCCCTGAGCCCTGTCCCTGTGGTGTTTACATGGGGGAATAAGCCTCTTTGCCTCTCTCAGGGCCTCCTGCCCCTGTGCCCTCTGTTCCCTAGGGCCCCAGGGCCACAGTGGTACCTCTGCCTGCCAGGTAGGGTGCCCTGTTAGGTGGTGTCAGGTTCCCTCGCAGAGCCTGGCTCTGAGGGAGGTGGAGGGTAAGGGCAGATGGGTGTGAATGGGCATGAGGTCAAGAAGGAAGACACCCTGTGGCAGTGACCTGACTCCCAGTCTCCATGACATATTTGTGTGTAACCAAGGATCATGGCGCAAGGGACTACATTGGACCCTCTGGCCTCTGGGCCTTTCCCTGCCTCCGGGGCTAGAGAAAAACTGAACAGTGGAGCGGGGAGGGGGCATCACCCTACCTGGCTGGGCATGTTCCATGCTGCTTTGACCTTAACCCCTGACCTGAGTTCATCAGTCCAGCGGGGAGTTCTGTCTCTCTTCCCATTACTTACCCAGGGGCTGATGCGGAGCTGGGAGGGAGAGGCCACTGCCCTTGGCTGAGAGGCCCAGTAACCATGCCTGCCTCCCTAGGCTCATCTTTGGCACCCTGTACCCAGCCTATTCTTCCTACAAGGCCGTGAAGACAAAAAACGTGAAGGAATATGTGAGTGGATGACCCTTCACCCCCTACCCAACCCACATGGCACAGAGAGGGGAGGGCACTGGGTCCTATTACAGATGGGGGTGACTTTGCACCAACACTGTCAGCCACTAACAAGACCCACCAGCAAAGGAGGGCCCTGGGTGTCCCACACAGCGCCTCCAACATGGCTGGCAGGCAGAAGTGGGGTCCTTGGTGTTCTCCCCAGCCCAGGCATGTTCAACAGGCAGAGCTGGGGTCCTGGGTGTCCCTGGCCCCTCAGCCCCGTGCCCCAGCCAGCGCTTCCCTCTGTCCCTCAGGTGAAATGGATGATGTACTGGATCGTCTTTGCCTTCTTCACCACGGCCGAGACGCTCACGGATATAGTGCTCTCCTGGTGAGGTCCAGCGTCCCCTCCTGTATCTCAGGGCCCAGGGCCTCTGCCTTTCTCTACCCAGCCAGCCAAACAAAAGACTGGGCCTGGGGGTGAAGCTCCTCCCATTCCTGACAATTTCATGGGGTCCTTGATATCTCCCCTCTCATGCCTAACTTGACCTGCAGAAGAACAGACATAGTAGTGCCAGGCGAGGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTCTAAGTGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAAAAAATAGCTGGGCATGGTGGCGCCCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAAGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAACAAACAAACAAGGAGTAAGAACAAACATAATCCCCATGTTTCTTTCTGGCGGCAGCCAGAGCCCCTCAGTGGAATTCAGGAAACCCGCTTCTGCCATGCTGCCTGCGACCTTAGGCAGGTCACAGCTCTCGAGGCCTCAGTTTCCTTATTTGTAAAATAGGCATATGATTCACTCCTATAAATGCTGGATACTTGCATTTCCAAGGCATTTTCCAGGCTGTACTAGACTACGTATGTATGAGCACTTTGAGGACAGGGAATATGTCTTAATCATCTGTATATTCACAGCAGGAACTCAAAAATGTTTACTGAATGATCAGATACCTCTTGGAAGAGGGGACTAATAACACAGTTCATCGGAACTCAAGAAGAGAATTTTACCAAGGGGGAGAGGACAAGAGATCATTACATTTATAGATAAGACCCTTGCATTTGAGAAAAATAGTTTTAGAAGAGGAAAGAGATGGAGAGATGGGTTAAAAATTGAGGGTAAAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGCAGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAAGTCAGGAGATGGAGAGCATCCTGTCCAATACGGTGAAACCCCATCTCTACTAAAAAACAAAACACAAAAAATTAGCCGGGCGTGGTGGCGGGTGTCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGTCGAGATCGAGCCACTGCACTCCAGTCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAATAGCTAGGTATTATGGCACCTACTTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCCGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAATTGAGGGTAAAGGCCGGGCATGGTGGCTCCTGCTTGTAATCCTGGCACTTTGGGAAGCCAAGGCAGGAGGATCACTTGAGCCTAGGAGTTTGAGATCAGCCTGGGCAACATAGCAAGACCTGCCTATTAAAAAAAAAATTGGCCAGGTGCGGTGGCTCATGCCCATAATCACAGCACTTTGGGAGGCCAAGGGGGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCTTATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCGGCC
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ACCTAAAGGCGCTGCGTCCTTATTTGGGGCCCCCAGAGACATGGAGATGTGGCACCCAGGACTGGAGGGGGGAATATTAGGGGAGCGTGGCAGGCCTGGCTTCCCAGGGACCTCACCCACATTCTTTATTAATAACCTCTTTTATTTCTACCGTCCTTGCTCCTGCGCCCATCCTAGAGGCTGAGCAGCACGGCTTGATTTAAAAGGGGAGGCAGGCGCGTCCCCTCCCCCACCTAGCAGGTCTGGGCTGGAGGAGATCCTCAGACCCGGGCCCTGTCCCTCTGGGGGAGGTAACAGGGTGATGGAAGAGAGTGGAGCAAGGCAGGGCCTCATCATCATTCCGCAGCTCAGAGCCATCACCAGGCCCCTTGGTCTCTCCCTTCCACTCACTGTCAGGAGACTGGGGACGAGGGCATATGCCCTTAGGCCCCCTAGGGAGGAAGTCTGGGTATCGGGAAGCAGAAATGCTCGGAGGACAAAGTGTGAGAGGTAACTGGGAGAGGGGATGTGTGTGCTCAGCCTGGGATTGTGGACCCCGCTGGGGGAGGACGCTCCGTGGCCTTCATTCCAGGCTGCCAGCCACACTGTGGAGCTGTGTCTCTGGCACCTCCCCGGGCCCCAGGAGGGAACACACACCATTCCCCACGAGCCCAGACTTTGTCCTTGAGGATTCTGCTCCGCACTCCACTTGCACCAGCCGGTTTGGAAGTATCCCTCCTGTCCATGTGGAAACAGGCGACAGCCACACATTGTCAAGGGGCTGAGCCTGACAGGGGCTCCTCGTGGTTCTCGGAGCTATCCCCTGCCCTAATGAGGACACTGCCCCTCGGCCTCCACCGTTGGGGACTGACACCGGCAGCCCCACCCTGCTCCCTTCTTCCCATTCGGTACAGCCGGGCCGGCCAAGTGCTTCTGTCCTGGTTTACTCTAGACTCCTTCTCTTCCCCCACCCATCCCAGGGGGAATGGAGGGGCCTCACGCCTCCATGTGGCCTTCAGGGTGGCTGCTTCTCTCTTGCCTGGGCAAGCCCCAAAGGGCATCGGTCCTCTTCTTTCCCGGCCTGTGTCTTGTCTGCATTCTGTACTTGGATCACCAGCGGGGCCCTCCCCTGAGCCCTGTCCCTGTGGTGTTTACATGGGGGAATAAGCCTCTTTGCCTCTCTCAGGGCCTCCTGCCCCTGTGCCCTCTGTTCCCTAGGGCCCCAGGGCCACAGTGGTACCTCTGCCTGCCAGGTAGGGTGCCCTGTTAGGTGGTGTCAGGTTCCCTCGCAGAGCCTGGCTCTGAGGGAGGTGGAGGGTAAGGGCAGATGGGTGTGAATGGGCATGAGGTCAAGAAGGAAGACACCCTGTGGCAGTGACCTGACTCCCAGTCTCCATGACATATTTGTGTGTAACCAAGGATCATGGCGCAAGGGACTACATTGGACCCTCTGGCCTCTGGGCCTTTCCCTGCCTCCGGGGCTAGAGAAAAACTGAACAGTGGAGCGGGGAGGGGGCATCACCCTACCTGGCTGGGCATGTTCCATGCTGCTTTGACCTTAACCCCTGACCTGAGTTCATCAGTCCAGCGGGGAGTTCTGTCTCTCTTCCCATTACTTACCCAGGGGCTGATGCGGAGCTGGGAGGGAGAGGCCACTGCCCTTGGCTGAGAGGCCCAGTAACCATGCCTGCCTCCCTAGGCTCATCTTTGGCACCCTGTACCCAGCCTATTCTTCCTACAAGGCCGTGAAGACAAAAAACGTGAAGGAATATGTGAGTGGATGACCCTTCACCCCCTACCCAACCCACATGGCACAGAGAGGGGAGGGCACTGGGTCCTATTACAGATGGGGGTGACTTTGCACCAACACTGTCAGCCACTAACAAGACCCACCAGCAAAGGAGGGCCCTGGGTGTCCCACACAGCGCCTCCAACATGGCTGGCAGGCAGAAGTGGGGTCCTTGGTGTTCTCCCCAGCCCAGGCATGTTCAACAGGCAGAGCTGGGGTCCTGGGTGTCCCTGGCCCCTCAGCCCCGTGCCCCAGCCAGCGCTTCCCTCTGTCCCTCAGGAGAAATGGATGATGTACTGGATCGTCTTTGCCTTCTTCACCACGGCCGAGACGCTCACGGATATAGTGCTCTCCTGGTGAGGTCCAGCGTCCCCTCCTGTATCTCAGGGCCCAGGGCCTCTGCCTTTCTCTACCCAGCCAGCCAAACAAAAGACTGGGCCTGGGGGTGAAGCTCCTCCCATTCCTGACAATTTCATGGGGTCCTTGATATCTCCCCTCTCATGCCTAACTTGACCTGCAGAAGAACAGACATAGTAGTGCCAGGCGAGGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTCTAAGTGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAAAAAATAGCTGGGCATGGTGGCGCCCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAAGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAACAAACAAACAAGGAGTAAGAACAAACATAATCCCCATGTTTCTTTCTGGCGGCAGCCAGAGCCCCTCAGTGGAATTCAGGAAACCCGCTTCTGCCATGCTGCCTGCGACCTTAGGCAGGTCACAGCTCTCGAGGCCTCAGTTTCCTTATTTGTAAAATAGGCATATGATTCACTCCTATAAATGCTGGATACTTGCATTTCCAAGGCATTTTCCAGGCTGTACTAGACTACGTATGTATGAGCACTTTGAGGACAGGGAATATGTCTTAATCATCTGTATATTCACAGCAGGAACTCAAAAATGTTTACTGAATGATCAGATACCTCTTGGAAGAGGGGACTAATAACACAGTTCATCGGAACTCAAGAAGAGAATTTTACCAAGGGGGAGAGGACAAGAGATCATTACATTTATAGATAAGACCCTTGCATTTGAGAAAAATAGTTTTAGAAGAGGAAAGAGATGGAGAGATGGGTTAAAAATTGAGGGTAAAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGCAGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAAGTCAGGAGATGGAGAGCATCCTGTCCAATACGGTGAAACCCCATCTCTACTAAAAAACAAAACACAAAAAATTAGCCGGGCGTGGTGGCGGGTGTCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGTCGAGATCGAGCCACTGCACTCCAGTCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAATAGCTAGGTATTATGGCACCTACTTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCCGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAATTGAGGGTAAAGGCCGGGCATGGTGGCTCCTGCTTGTAATCCTGGCACTTTGGGAAGCCAAGGCAGGAGGATCACTTGAGCCTAGGAGTTTGAGATCAGCCTGGGCAACATAGCAAGACCTGCCTATTAAAAAAAAAATTGGCCAGGTGCGGTGGCTCATGCCCATAATCACAGCACTTTGGGAGGCCAAGGGGGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCTTATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCGGCC
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Task1_train_9534
|
Given this context: Chromosome 5, gene REEP2 (receptor accessory protein 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Hereditary spastic paraplegia 72
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TGCGTCCTTATTTGGGGCCCCCAGAGACATGGAGATGTGGCACCCAGGACTGGAGGGGGGAATATTAGGGGAGCGTGGCAGGCCTGGCTTCCCAGGGACCTCACCCACATTCTTTATTAATAACCTCTTTTATTTCTACCGTCCTTGCTCCTGCGCCCATCCTAGAGGCTGAGCAGCACGGCTTGATTTAAAAGGGGAGGCAGGCGCGTCCCCTCCCCCACCTAGCAGGTCTGGGCTGGAGGAGATCCTCAGACCCGGGCCCTGTCCCTCTGGGGGAGGTAACAGGGTGATGGAAGAGAGTGGAGCAAGGCAGGGCCTCATCATCATTCCGCAGCTCAGAGCCATCACCAGGCCCCTTGGTCTCTCCCTTCCACTCACTGTCAGGAGACTGGGGACGAGGGCATATGCCCTTAGGCCCCCTAGGGAGGAAGTCTGGGTATCGGGAAGCAGAAATGCTCGGAGGACAAAGTGTGAGAGGTAACTGGGAGAGGGGATGTGTGTGCTCAGCCTGGGATTGTGGACCCCGCTGGGGGAGGACGCTCCGTGGCCTTCATTCCAGGCTGCCAGCCACACTGTGGAGCTGTGTCTCTGGCACCTCCCCGGGCCCCAGGAGGGAACACACACCATTCCCCACGAGCCCAGACTTTGTCCTTGAGGATTCTGCTCCGCACTCCACTTGCACCAGCCGGTTTGGAAGTATCCCTCCTGTCCATGTGGAAACAGGCGACAGCCACACATTGTCAAGGGGCTGAGCCTGACAGGGGCTCCTCGTGGTTCTCGGAGCTATCCCCTGCCCTAATGAGGACACTGCCCCTCGGCCTCCACCGTTGGGGACTGACACCGGCAGCCCCACCCTGCTCCCTTCTTCCCATTCGGTACAGCCGGGCCGGCCAAGTGCTTCTGTCCTGGTTTACTCTAGACTCCTTCTCTTCCCCCACCCATCCCAGGGGGAATGGAGGGGCCTCACGCCTCCATGTGGCCTTCAGGGTGGCTGCTTCTCTCTTGCCTGGGCAAGCCCCAAAGGGCATCGGTCCTCTTCTTTCCCGGCCTGTGTCTTGTCTGCATTCTGTACTTGGATCACCAGCGGGGCCCTCCCCTGAGCCCTGTCCCTGTGGTGTTTACATGGGGGAATAAGCCTCTTTGCCTCTCTCAGGGCCTCCTGCCCCTGTGCCCTCTGTTCCCTAGGGCCCCAGGGCCACAGTGGTACCTCTGCCTGCCAGGTAGGGTGCCCTGTTAGGTGGTGTCAGGTTCCCTCGCAGAGCCTGGCTCTGAGGGAGGTGGAGGGTAAGGGCAGATGGGTGTGAATGGGCATGAGGTCAAGAAGGAAGACACCCTGTGGCAGTGACCTGACTCCCAGTCTCCATGACATATTTGTGTGTAACCAAGGATCATGGCGCAAGGGACTACATTGGACCCTCTGGCCTCTGGGCCTTTCCCTGCCTCCGGGGCTAGAGAAAAACTGAACAGTGGAGCGGGGAGGGGGCATCACCCTACCTGGCTGGGCATGTTCCATGCTGCTTTGACCTTAACCCCTGACCTGAGTTCATCAGTCCAGCGGGGAGTTCTGTCTCTCTTCCCATTACTTACCCAGGGGCTGATGCGGAGCTGGGAGGGAGAGGCCACTGCCCTTGGCTGAGAGGCCCAGTAACCATGCCTGCCTCCCTAGGCTCATCTTTGGCACCCTGTACCCAGCCTATTCTTCCTACAAGGCCGTGAAGACAAAAAACGTGAAGGAATATGTGAGTGGATGACCCTTCACCCCCTACCCAACCCACATGGCACAGAGAGGGGAGGGCACTGGGTCCTATTACAGATGGGGGTGACTTTGCACCAACACTGTCAGCCACTAACAAGACCCACCAGCAAAGGAGGGCCCTGGGTGTCCCACACAGCGCCTCCAACATGGCTGGCAGGCAGAAGTGGGGTCCTTGGTGTTCTCCCCAGCCCAGGCATGTTCAACAGGCAGAGCTGGGGTCCTGGGTGTCCCTGGCCCCTCAGCCCCGTGCCCCAGCCAGCGCTTCCCTCTGTCCCTCAGGTGAAATGGATGATGTACTGGATCGTCTTTGCCTTCTTCACCACGGCCGAGACGCTCACGGATATAGTGCTCTCCTGGTGAGGTCCAGCGTCCCCTCCTGTATCTCAGGGCCCAGGGCCTCTGCCTTTCTCTACCCAGCCAGCCAAACAAAAGACTGGGCCTGGGGGTGAAGCTCCTCCCATTCCTGACAATTTCATGGGGTCCTTGATATCTCCCCTCTCATGCCTAACTTGACCTGCAGAAGAACAGACATAGTAGTGCCAGGCGAGGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTCTAAGTGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAAAAAATAGCTGGGCATGGTGGCGCCCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAAGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAACAAACAAACAAGGAGTAAGAACAAACATAATCCCCATGTTTCTTTCTGGCGGCAGCCAGAGCCCCTCAGTGGAATTCAGGAAACCCGCTTCTGCCATGCTGCCTGCGACCTTAGGCAGGTCACAGCTCTCGAGGCCTCAGTTTCCTTATTTGTAAAATAGGCATATGATTCACTCCTATAAATGCTGGATACTTGCATTTCCAAGGCATTTTCCAGGCTGTACTAGACTACGTATGTATGAGCACTTTGAGGACAGGGAATATGTCTTAATCATCTGTATATTCACAGCAGGAACTCAAAAATGTTTACTGAATGATCAGATACCTCTTGGAAGAGGGGACTAATAACACAGTTCATCGGAACTCAAGAAGAGAATTTTACCAAGGGGGAGAGGACAAGAGATCATTACATTTATAGATAAGACCCTTGCATTTGAGAAAAATAGTTTTAGAAGAGGAAAGAGATGGAGAGATGGGTTAAAAATTGAGGGTAAAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGCAGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAAGTCAGGAGATGGAGAGCATCCTGTCCAATACGGTGAAACCCCATCTCTACTAAAAAACAAAACACAAAAAATTAGCCGGGCGTGGTGGCGGGTGTCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGTCGAGATCGAGCCACTGCACTCCAGTCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAATAGCTAGGTATTATGGCACCTACTTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCCGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAATTGAGGGTAAAGGCCGGGCATGGTGGCTCCTGCTTGTAATCCTGGCACTTTGGGAAGCCAAGGCAGGAGGATCACTTGAGCCTAGGAGTTTGAGATCAGCCTGGGCAACATAGCAAGACCTGCCTATTAAAAAAAAAATTGGCCAGGTGCGGTGGCTCATGCCCATAATCACAGCACTTTGGGAGGCCAAGGGGGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCTTATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCGGCCTGGGCAACAAGA
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TGCGTCCTTATTTGGGGCCCCCAGAGACATGGAGATGTGGCACCCAGGACTGGAGGGGGGAATATTAGGGGAGCGTGGCAGGCCTGGCTTCCCAGGGACCTCACCCACATTCTTTATTAATAACCTCTTTTATTTCTACCGTCCTTGCTCCTGCGCCCATCCTAGAGGCTGAGCAGCACGGCTTGATTTAAAAGGGGAGGCAGGCGCGTCCCCTCCCCCACCTAGCAGGTCTGGGCTGGAGGAGATCCTCAGACCCGGGCCCTGTCCCTCTGGGGGAGGTAACAGGGTGATGGAAGAGAGTGGAGCAAGGCAGGGCCTCATCATCATTCCGCAGCTCAGAGCCATCACCAGGCCCCTTGGTCTCTCCCTTCCACTCACTGTCAGGAGACTGGGGACGAGGGCATATGCCCTTAGGCCCCCTAGGGAGGAAGTCTGGGTATCGGGAAGCAGAAATGCTCGGAGGACAAAGTGTGAGAGGTAACTGGGAGAGGGGATGTGTGTGCTCAGCCTGGGATTGTGGACCCCGCTGGGGGAGGACGCTCCGTGGCCTTCATTCCAGGCTGCCAGCCACACTGTGGAGCTGTGTCTCTGGCACCTCCCCGGGCCCCAGGAGGGAACACACACCATTCCCCACGAGCCCAGACTTTGTCCTTGAGGATTCTGCTCCGCACTCCACTTGCACCAGCCGGTTTGGAAGTATCCCTCCTGTCCATGTGGAAACAGGCGACAGCCACACATTGTCAAGGGGCTGAGCCTGACAGGGGCTCCTCGTGGTTCTCGGAGCTATCCCCTGCCCTAATGAGGACACTGCCCCTCGGCCTCCACCGTTGGGGACTGACACCGGCAGCCCCACCCTGCTCCCTTCTTCCCATTCGGTACAGCCGGGCCGGCCAAGTGCTTCTGTCCTGGTTTACTCTAGACTCCTTCTCTTCCCCCACCCATCCCAGGGGGAATGGAGGGGCCTCACGCCTCCATGTGGCCTTCAGGGTGGCTGCTTCTCTCTTGCCTGGGCAAGCCCCAAAGGGCATCGGTCCTCTTCTTTCCCGGCCTGTGTCTTGTCTGCATTCTGTACTTGGATCACCAGCGGGGCCCTCCCCTGAGCCCTGTCCCTGTGGTGTTTACATGGGGGAATAAGCCTCTTTGCCTCTCTCAGGGCCTCCTGCCCCTGTGCCCTCTGTTCCCTAGGGCCCCAGGGCCACAGTGGTACCTCTGCCTGCCAGGTAGGGTGCCCTGTTAGGTGGTGTCAGGTTCCCTCGCAGAGCCTGGCTCTGAGGGAGGTGGAGGGTAAGGGCAGATGGGTGTGAATGGGCATGAGGTCAAGAAGGAAGACACCCTGTGGCAGTGACCTGACTCCCAGTCTCCATGACATATTTGTGTGTAACCAAGGATCATGGCGCAAGGGACTACATTGGACCCTCTGGCCTCTGGGCCTTTCCCTGCCTCCGGGGCTAGAGAAAAACTGAACAGTGGAGCGGGGAGGGGGCATCACCCTACCTGGCTGGGCATGTTCCATGCTGCTTTGACCTTAACCCCTGACCTGAGTTCATCAGTCCAGCGGGGAGTTCTGTCTCTCTTCCCATTACTTACCCAGGGGCTGATGCGGAGCTGGGAGGGAGAGGCCACTGCCCTTGGCTGAGAGGCCCAGTAACCATGCCTGCCTCCCTAGGCTCATCTTTGGCACCCTGTACCCAGCCTATTCTTCCTACAAGGCCGTGAAGACAAAAAACGTGAAGGAATATGTGAGTGGATGACCCTTCACCCCCTACCCAACCCACATGGCACAGAGAGGGGAGGGCACTGGGTCCTATTACAGATGGGGGTGACTTTGCACCAACACTGTCAGCCACTAACAAGACCCACCAGCAAAGGAGGGCCCTGGGTGTCCCACACAGCGCCTCCAACATGGCTGGCAGGCAGAAGTGGGGTCCTTGGTGTTCTCCCCAGCCCAGGCATGTTCAACAGGCAGAGCTGGGGTCCTGGGTGTCCCTGGCCCCTCAGCCCCGTGCCCCAGCCAGCGCTTCCCTCTGTCCCTCAGGTGAAATGGATGAGGTACTGGATCGTCTTTGCCTTCTTCACCACGGCCGAGACGCTCACGGATATAGTGCTCTCCTGGTGAGGTCCAGCGTCCCCTCCTGTATCTCAGGGCCCAGGGCCTCTGCCTTTCTCTACCCAGCCAGCCAAACAAAAGACTGGGCCTGGGGGTGAAGCTCCTCCCATTCCTGACAATTTCATGGGGTCCTTGATATCTCCCCTCTCATGCCTAACTTGACCTGCAGAAGAACAGACATAGTAGTGCCAGGCGAGGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTCTAAGTGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAAAAAATAGCTGGGCATGGTGGCGCCCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAAGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAACAAACAAACAAGGAGTAAGAACAAACATAATCCCCATGTTTCTTTCTGGCGGCAGCCAGAGCCCCTCAGTGGAATTCAGGAAACCCGCTTCTGCCATGCTGCCTGCGACCTTAGGCAGGTCACAGCTCTCGAGGCCTCAGTTTCCTTATTTGTAAAATAGGCATATGATTCACTCCTATAAATGCTGGATACTTGCATTTCCAAGGCATTTTCCAGGCTGTACTAGACTACGTATGTATGAGCACTTTGAGGACAGGGAATATGTCTTAATCATCTGTATATTCACAGCAGGAACTCAAAAATGTTTACTGAATGATCAGATACCTCTTGGAAGAGGGGACTAATAACACAGTTCATCGGAACTCAAGAAGAGAATTTTACCAAGGGGGAGAGGACAAGAGATCATTACATTTATAGATAAGACCCTTGCATTTGAGAAAAATAGTTTTAGAAGAGGAAAGAGATGGAGAGATGGGTTAAAAATTGAGGGTAAAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGCAGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAAGTCAGGAGATGGAGAGCATCCTGTCCAATACGGTGAAACCCCATCTCTACTAAAAAACAAAACACAAAAAATTAGCCGGGCGTGGTGGCGGGTGTCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGTCGAGATCGAGCCACTGCACTCCAGTCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAATAGCTAGGTATTATGGCACCTACTTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCCGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAATTGAGGGTAAAGGCCGGGCATGGTGGCTCCTGCTTGTAATCCTGGCACTTTGGGAAGCCAAGGCAGGAGGATCACTTGAGCCTAGGAGTTTGAGATCAGCCTGGGCAACATAGCAAGACCTGCCTATTAAAAAAAAAATTGGCCAGGTGCGGTGGCTCATGCCCATAATCACAGCACTTTGGGAGGCCAAGGGGGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCTTATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCGGCCTGGGCAACAAGA
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Task1_train_9535
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Located on Chromosome 5, this mutation impacts REEP2 (receptor accessory protein 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Spastic paraplegia 72b, autosomal recessive
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GATGGAGAGATGGGTTAAAAATTGAGGGTAAAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGCAGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAAGTCAGGAGATGGAGAGCATCCTGTCCAATACGGTGAAACCCCATCTCTACTAAAAAACAAAACACAAAAAATTAGCCGGGCGTGGTGGCGGGTGTCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGTCGAGATCGAGCCACTGCACTCCAGTCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAATAGCTAGGTATTATGGCACCTACTTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCCGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAATTGAGGGTAAAGGCCGGGCATGGTGGCTCCTGCTTGTAATCCTGGCACTTTGGGAAGCCAAGGCAGGAGGATCACTTGAGCCTAGGAGTTTGAGATCAGCCTGGGCAACATAGCAAGACCTGCCTATTAAAAAAAAAATTGGCCAGGTGCGGTGGCTCATGCCCATAATCACAGCACTTTGGGAGGCCAAGGGGGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCTTATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCGGCCTGGGCAACAAGAACGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGATGAGAGTAGGGCAAGGGTGGTGAGGTGAAAAACAAAACTGAGGGTAGTAAATATAGATGCCTTTTTTTTCTTTTTCTGAGATAGAATCTCACTCTGTCATTCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAGCCTCTACCTCCTGGGCTCAAGTGATCCTCCCACCTCAACCTCCTGAGTAGCTGGGACCACAGGCACACGCCACCACACCTGGCTTATTTTTTATTTTTTGTAGAGATGGGGTTTTGCTGTGTTGTCAGGCTGGTCTTGAACTCCTGGGCTCAGATGATCCTCCCACCTTGGCTCCCAAAGTGCTGGGAGATTACAGGCCACTGTGCCAGGCCTATACATGTGTCTTGACACAGCAAAAGAGAGAGCTTTGATGAAGACTTTGTGAGGACATAGGTGACCTGAAGGAGTTTGTGACCAGAGGAGAAGGCACTATGGGGACTGAAGGGCAATCCTGGAGAAGTGAGGGTCGTGTCACGGTGGGGCAGGAGGGTCCAGAGCAAGCTAGAGAAGTCCCAGGCCTCTCGATGATAGGGAGGGCAGAAAGGGAAGGAGTGAAGACCCAGGTGTAGGCCTGCACAGTCAAGAGTTTCCCTTGGTGTTGACCCTAGGGCAGAGGAAGGGGGGTTTTCTCTAGGAGTGAGAGGGCTGGGGCTTGGGGAGAGGATGAGGCCAGGAGAGTCGCTGCTGGGGGAAATTCCTTCTAGTGTCACTGCTTACCTTCCTGTTTGGAGCTTCAGCTGAGCCCTCCAGACCCTTTCAGATTAGAAAGGAGCAGTCCCATGAGCCCCATGGGGACCCCAGTGCACTAAGAGTGAGGGGCTGTGCAGGGTCACACATGGGGCCGGTGCTGCTGGACACAGGGCACCTCCCAACTCCCTGCCCTGTACTCTGCGCTTGCCCCTGTCCCAACAGGTTCCCCTTCTACTTTGAACTGAAGATCGCCTTCGTGATATGGCTGCTGTCCCCTTACACCAAGGGCTCCAGCGTGCTCTACCGCAAGTTCGTGCACCCAACGCTGTCCAACAAGGAGAAGGTTTGCCCCCACTCTCAGCTCACCTCCCAGCCTGCCCCCAGCCAAGGCAGTCCAGAGCCTGCAGCCTCATACAGACTGGCCCTCCCTGTGGGGCCCAGAGCCCAAAGTGACTTGGCAGGGCTGCCGTGGCCTCCCGGAGCAGGCAGGGGCCTCTGTCCAGGGGTGAACAAGGGTAGGGCAGGACCTCTCCTCTTCTCCCTTCCCCTCCAATCCCATAGGAGATCGACGAGTACATCACGCAGGCCCGAGACAAGAGCTATGAGACCATGATGAGGGTGGGCAAGAGGGGCCTGAACCTTGCCGCCAATGCTGCAGTCACAGCTGCCGCCAAGGTGAGATGGGGGCAGGCTCAGACTCCCAGGGCCCCTACCTTGTACAAAGGGCCCTGGCCAGGCCCCTTTGCATCCACCCTGTACTCGGGGCTGTAGAGACTCTGGGCTCATGCAGCTGGAGGCTCCAGTCCAGGCTCTACTGCTATCTGGCCGAGTCACTTTGATTGTCCGGCCATTTCCCCATCTGTCCCCAGAGGCAAAGTGTGGCCCTGCCCCAGCCCTCAGCTCTGTCTGTGTGGGACTGGGTGAGGACAGTGTGGGGAGGGCACCGAGCCTGGGGCTGCTGCCAGCACCATGGTGACCTCTATCTCCACCCCGCCCCTTCCCCCCGGCTCTCCCGGTGCGTGGTGGTGACCCTAGGGCCAGGGGGTGCTGTCAGAGAAGCTCCGCAGCTTCAGCATGCAGGACCTGACCCTGATCCGGGACGAGGACGCACTGCCCCTGCAGAGGCCTGACGGCCGCCTCCGACCCAGCCCTGGCAGCCTCCTGGACACCATCGAGGACTTAGGTACAGGCAGGGCCCGGGGTTGGGGTGGGGCCCCAAGGGCAAGGAGTCCAGATGGGAAAGATTCCCCCACCTCCTTTTCTCCCTGCACCCAGGAGATGACCCTGCCCTGAGTCTAAGGTCCAGCACAAACCCGGCAGATTCCCGGACAGAGGCTTCTGAGGATGACATGGGAGACAAAGCTCCCAAGAGGGCCAAACCCATCAAAAAAGCGCCCAAAGCTGAGGTGAGGGCACTGGCCAGAGCTTGGGGAAACAGGCAGGGGGTGGCGGCTCCAGGCTGAGCCCCATCTTCCTCCTTCTTTCCACAGCCACTGGCTTCCAAGACACTGAAGACCCGGCCCAAGAAGAAGACCTCTGGCGGGGGCGACTCAGCTTGAGCCCCTCCACCCCCGCAGGCTGCAGAGCAAGGATGAAGCCTCAGGAGGGGCCTCAGACCCAGCCCCTGCTCCACACTGTGCCAGTAGCCTAGGTGTCTCAGGCCCCTGGGCCCCGCAGATGGCCATTTCCGGTGCCTGCCCAGTGGCCACTCTTCTGGAAGGGGCTTGGAAAAGAGGAAGGAGGCCCAGCTGTGGGGGTTGAGGGTAGAGGGTGGACCAGAGGCTGAGGACTGAGCCACCCAAGGAGGTGGGGACTGCTCGGCCTCCACCGCTGTTCCGCTGCAGCCCCGCCCTGCCCCACCCACCCAGTGCCTTGCTGAAGCCCATAGCAATCCGCTTCTCAGAGGTCCTGTCGTGTTTCCACTGCTCGCCTTGGTTTGGGAGCAGGGAGGGGGAAGTCCTAGCCCAGATGGACCAAGGACGGGCCTGAAGGCACATGGGGGAAAGGGAGCACACGGGGAGGACGTTGGGGACCCTGGGTGGGGCCTCCAGGTGCAGCTGTGGATGGAAGACAGGGATTGGCCTGTGCTTCAGCGACCAGGATGGCCAGGCCAGAGCTGCAGCTGGGGGCTCTTTTCCTGGTCATTGGGTGGGGCTGAGTGCCACATGTTCCCACATTAAAAAGGGGGGTCCAGGGCTGTGTGAGTGTGTCTTTCTGGGTCTAGGGCTCGGGGTAGTTTGGGTCAAGGACTGTCCCTCCAGCAGTCGCCTCCTCCCACCCTGAGCCCCACAGTCATCTGGCC
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GATGGAGAGATGGGTTAAAAATTGAGGGTAAAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGCAGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAAGTCAGGAGATGGAGAGCATCCTGTCCAATACGGTGAAACCCCATCTCTACTAAAAAACAAAACACAAAAAATTAGCCGGGCGTGGTGGCGGGTGTCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGTCGAGATCGAGCCACTGCACTCCAGTCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAATAGCTAGGTATTATGGCACCTACTTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCCGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAATTGAGGGTAAAGGCCGGGCATGGTGGCTCCTGCTTGTAATCCTGGCACTTTGGGAAGCCAAGGCAGGAGGATCACTTGAGCCTAGGAGTTTGAGATCAGCCTGGGCAACATAGCAAGACCTGCCTATTAAAAAAAAAATTGGCCAGGTGCGGTGGCTCATGCCCATAATCACAGCACTTTGGGAGGCCAAGGGGGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCTTATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCGGCCTGGGCAACAAGAACGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGATGAGAGTAGGGCAAGGGTGGTGAGGTGAAAAACAAAACTGAGGGTAGTAAATATAGATGCCTTTTTTTTCTTTTTCTGAGATAGAATCTCACTCTGTCATTCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAGCCTCTACCTCCTGGGCTCAAGTGATCCTCCCACCTCAACCTCCTGAGTAGCTGGGACCACAGGCACACGCCACCACACCTGGCTTATTTTTTATTTTTTGTAGAGATGGGGTTTTGCTGTGTTGTCAGGCTGGTCTTGAACTCCTGGGCTCAGATGATCCTCCCACCTTGGCTCCCAAAGTGCTGGGAGATTACAGGCCACTGTGCCAGGCCTATACATGTGTCTTGACACAGCAAAAGAGAGAGCTTTGATGAAGACTTTGTGAGGACATAGGTGACCTGAAGGAGTTTGTGACCAGAGGAGAAGGCACTATGGGGACTGAAGGGCAATCCTGGAGAAGTGAGGGTCGTGTCACGGTGGGGCAGGAGGGTCCAGAGCAAGCTAGAGAAGTCCCAGGCCTCTCGATGATAGGGAGGGCAGAAAGGGAAGGAGTGAAGACCCAGGTGTAGGCCTGCACAGTCAAGAGTTTCCCTTGGTGTTGACCCTAGGGCAGAGGAAGGGGGGTTTTCTCTAGGAGTGAGAGGGCTGGGGCTTGGGGAGAGGATGAGGCCAGGAGAGTCGCTGCTGGGGGAAATTCCTTCTAGTGTCACTGCTTACCTTCCTGTTTGGAGCTTCAGCTGAGCCCTCCAGACCCTTTCAGATTAGAAAGGAGCAGTCCCATGAGCCCCATGGGGACCCCAGTGCACTAAGAGTGAGGGGCTGTGCAGGGTCACACATGGGGCCGGTGCTGCTGGACACAGGGCACCTCCCAACTCCCTGCCCTGTACTCTGCGCTTGCCCCTGTCCCAACAGGTTCCCCTTCTACTTTGAACTGAAGATCGCCTACGTGATATGGCTGCTGTCCCCTTACACCAAGGGCTCCAGCGTGCTCTACCGCAAGTTCGTGCACCCAACGCTGTCCAACAAGGAGAAGGTTTGCCCCCACTCTCAGCTCACCTCCCAGCCTGCCCCCAGCCAAGGCAGTCCAGAGCCTGCAGCCTCATACAGACTGGCCCTCCCTGTGGGGCCCAGAGCCCAAAGTGACTTGGCAGGGCTGCCGTGGCCTCCCGGAGCAGGCAGGGGCCTCTGTCCAGGGGTGAACAAGGGTAGGGCAGGACCTCTCCTCTTCTCCCTTCCCCTCCAATCCCATAGGAGATCGACGAGTACATCACGCAGGCCCGAGACAAGAGCTATGAGACCATGATGAGGGTGGGCAAGAGGGGCCTGAACCTTGCCGCCAATGCTGCAGTCACAGCTGCCGCCAAGGTGAGATGGGGGCAGGCTCAGACTCCCAGGGCCCCTACCTTGTACAAAGGGCCCTGGCCAGGCCCCTTTGCATCCACCCTGTACTCGGGGCTGTAGAGACTCTGGGCTCATGCAGCTGGAGGCTCCAGTCCAGGCTCTACTGCTATCTGGCCGAGTCACTTTGATTGTCCGGCCATTTCCCCATCTGTCCCCAGAGGCAAAGTGTGGCCCTGCCCCAGCCCTCAGCTCTGTCTGTGTGGGACTGGGTGAGGACAGTGTGGGGAGGGCACCGAGCCTGGGGCTGCTGCCAGCACCATGGTGACCTCTATCTCCACCCCGCCCCTTCCCCCCGGCTCTCCCGGTGCGTGGTGGTGACCCTAGGGCCAGGGGGTGCTGTCAGAGAAGCTCCGCAGCTTCAGCATGCAGGACCTGACCCTGATCCGGGACGAGGACGCACTGCCCCTGCAGAGGCCTGACGGCCGCCTCCGACCCAGCCCTGGCAGCCTCCTGGACACCATCGAGGACTTAGGTACAGGCAGGGCCCGGGGTTGGGGTGGGGCCCCAAGGGCAAGGAGTCCAGATGGGAAAGATTCCCCCACCTCCTTTTCTCCCTGCACCCAGGAGATGACCCTGCCCTGAGTCTAAGGTCCAGCACAAACCCGGCAGATTCCCGGACAGAGGCTTCTGAGGATGACATGGGAGACAAAGCTCCCAAGAGGGCCAAACCCATCAAAAAAGCGCCCAAAGCTGAGGTGAGGGCACTGGCCAGAGCTTGGGGAAACAGGCAGGGGGTGGCGGCTCCAGGCTGAGCCCCATCTTCCTCCTTCTTTCCACAGCCACTGGCTTCCAAGACACTGAAGACCCGGCCCAAGAAGAAGACCTCTGGCGGGGGCGACTCAGCTTGAGCCCCTCCACCCCCGCAGGCTGCAGAGCAAGGATGAAGCCTCAGGAGGGGCCTCAGACCCAGCCCCTGCTCCACACTGTGCCAGTAGCCTAGGTGTCTCAGGCCCCTGGGCCCCGCAGATGGCCATTTCCGGTGCCTGCCCAGTGGCCACTCTTCTGGAAGGGGCTTGGAAAAGAGGAAGGAGGCCCAGCTGTGGGGGTTGAGGGTAGAGGGTGGACCAGAGGCTGAGGACTGAGCCACCCAAGGAGGTGGGGACTGCTCGGCCTCCACCGCTGTTCCGCTGCAGCCCCGCCCTGCCCCACCCACCCAGTGCCTTGCTGAAGCCCATAGCAATCCGCTTCTCAGAGGTCCTGTCGTGTTTCCACTGCTCGCCTTGGTTTGGGAGCAGGGAGGGGGAAGTCCTAGCCCAGATGGACCAAGGACGGGCCTGAAGGCACATGGGGGAAAGGGAGCACACGGGGAGGACGTTGGGGACCCTGGGTGGGGCCTCCAGGTGCAGCTGTGGATGGAAGACAGGGATTGGCCTGTGCTTCAGCGACCAGGATGGCCAGGCCAGAGCTGCAGCTGGGGGCTCTTTTCCTGGTCATTGGGTGGGGCTGAGTGCCACATGTTCCCACATTAAAAAGGGGGGTCCAGGGCTGTGTGAGTGTGTCTTTCTGGGTCTAGGGCTCGGGGTAGTTTGGGTCAAGGACTGTCCCTCCAGCAGTCGCCTCCTCCCACCCTGAGCCCCACAGTCATCTGGCC
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Task1_train_9536
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This sequence variant lies in HSPA9 (heat shock protein family A (Hsp70) member 9) on Chromosome 5. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Even-plus syndrome
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ATCTTCATCAACACAAATGCTCCAATCTGACTCGGAGAATACAATTTCCCATGAGCCTCAACCCAGGCATCACCATTGGAGGCACGGACAATTTTAAAGGGAACATTTTTACTGTAAGACACAAAAATTCTATTAGAGAAAACTACCTGAACAACTTACCATGACAAAATTACCACATACCATGAACATCCATCTTCCACCCCAAGAGACTCATTCATGGCCAACAAATGACAGTTTGTGAAATTCTTTAGAAAGCAATCACTAACATGGTTTATGAGAATTACAAGGCAAAATGAAATAAATAAATAAAAAGAAAGCAATCACTAACATATAAAAACATTATGATGAAACCTCAACATTCTTTATTTAGCGCCCCAGGCAGAAGATTTTTGCAGCCACTTTAGAATAATTTGATGAAACCGTTACTGTATGATCCAGCAATTCTACTCTCTAAGACAAATGGAAATATTTATGTCCACACAAAAACTTGTACACAAATGTTTATGGCAGCATTATTTCTAATAGCCAAAAAGCAGAAACAGCTCAAATGTCCATCACTTGACAAATGGATAAACAAAATGTGCTGTATGTCCATACAGTATAGTATTATTTGGCCATAAAAAGGAATGCAGTACTGACACATGCTACAACATGGATGAACCTTGAAAACATGCTAAGTGAAAGAAGCCAGTCATAGAGGTCCACGCAACTCCATGCATACAGAATTCATATTCTACTCAAGCTCAATAAAGCTGTTTAAATTTTTAAAAATATTTAGTTTATATATATATAGACAGAGACACACACAGTCTTGCCTTGTTGGCCTAGATGGTCTTAAACTCAGCCTCAGACAGTCTTTCCACCTCTGCCTCCTAAAGTGCTAGGATTACAGACATGAGCCACTGCTCTAGGCCTAAAACATTTTGTATACAACAGGAAACTCTACCTATGCTTCTAGTTTTTTTTTTTTTTGAGACAGGGTTTCACTGCTATTACTCAGACTGGAGTGCAATGGCATGATCTCAGCTCACTGGAACCTCCGCCCCTCAACGCTCAAGCCTCACTAGTAGCTGGGACTATAGGCGCGCACCACCGAGCTTGGCTCTTTTTTGTATTTTTTGCAGAGGTGGCTTTTCCCCAAGTTGTCCAGGCTGGTCTCGAACTCCTGAGCTCACCTCAGCCTCCCAAAGTGTTAGGATTACAGGTGTGAGTCACCCCACCGAGCCTCTAGTATGTCTATTTTAGAAAAAGGCAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAATAATTTGGGAGGCTGGGGTGGAAGGGTCAGTTGAGTCCAGGAGTTCAACACCAACTTGGGCAACATAGTGAGCCCCGTTTCTATTGGGAGGGGGGAAGAAAAAAGAAAAATCAAGTCTTTTTCTGTACTGGATCAACACATGATAGAACCTATGCCATTTCTGCCTTATGTATTCAACACTGAACTATGTGGTTTAGGAATGCTTTGCAAATTTTCATGTATCATGTCAATACATAGCAAAGACCTAATCTGTAAAGACAAAAATGAATTTTTTTCTTTTGAGACAGAGTCTCAGCAGCCCAGGCTGGAGTGCAGTGGCAGTGATCTCGGCTCACCGCAACCACCGTCTCCCGGGTTCAAGTGATTCTCCCGTCTCAGCCTCCTGAGTAGCCGGGATTACAGGCACCCACCATCATGCACAGCTAATTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCACTGGCCAAAAATGAATTTTTTAAAGGGATTACCCTTTTGGCAGTGGTACAGATTTCCCCTAGGGACAATAAGTAAAATTACTAAAGTAAGGTGCTCCAGGGATCCTCATCAACATGCTGAGGCTCTTCTGTGTGGCCCTTGCAAATAACTGCTTTTTGCAAAAAACTTTTGCTGTTACTCACATGTCTTTCTGTACTTCAGGATCATCATATCGCCGGCCAATGAGACGCTTGGTAGCATAAAATGTATTGTTTGGGTTGGTGACAGCCTGTCGCTTGGCCGGCATTCCAACAAGTCGCTCACCATCTGCTGTAAAGGCCACAACTGAAGGGGTGGTTCTGGCACCTTCGGCATTCTCCAGCACCTAAACTCCCAAAATGTGATAGAGAGTAAGTTTGTAGTTATCACTGGTATGTTTTTTGAGATGGAGTCTCACTCTGTCGCTAAGGCTGGAGTACAATGGCACAATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGCGATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGTACTATAGGCGTGCACCACCACACCAAGCTAATTTTTCGGCATTTTTTAGTAGAGACGGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCGAAGTGTTGCGATACAGGCATGAGCCAATACGCCCAGCCTATTACTGGTATGTTTGCAGCAATCATTTAAGACACAGAAACAGCTCCCAAATTGCGAAACAAATGCACATCAACAATACTACCGGGCATGCTTTACTGCTGATAGTTAATGAACAGTAGATATTTAGTTAAGGTATCTTTAGCCCTTTACTTTCAAACTACTATTTTTTTTTTTTTTTTGAGAGGGAGTCTCGCTCTTGTCACCCAGACTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAACTCCCTGTCCTGGGTTCAATTCTCCTACTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCAACTAATTTTGTGTGTGTGTGTGTGTGTGTGTACTTTTAGTAGAGATGGGGTTTTGCCAAGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCGCCCACCTTGGCCTCCCAAAATGCTGGGATTACAGGCTTGAGGCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCACCTAGGCTGGAGTGCAGTGGCACTGTCACGGCTCACTGCAGCATTGACCTGCCAGCCTCAGCTGATCCTCCCACCTTAGCCTCCAGAGTAGCTGGGACTACAGGGGCACACCACTATGCCCGGCTAATTTTTTGTAGAGACAGTGTTTTGCTATGTTGCCTAGGGTGATCTTCAACTCCCACACTCAAGTGGCCTCCCCAAGTGTTGGGATTACAGGCATGACCCACCAGGCCTGGCCCTGATTTACATTTTAAAAACTGCTTTGGTTGCTTAAGACTCTTGTCAGGTGAACCTTTGTAGTGCTGATAATTGTATGTATCTAACTTCCCAGAAAAGGATTTAAATGTGGTATAGAGGTAGGACTACTAATTTACTATTAAGAGGGGTGGGAATGGCTTGCACTGTTTGGTTACTCTGGTAACCACCAAAGTGCTGCATTTTCTAAATTGAAACAAAGTTGGGTGTGCAGAGACAGACTAGAAGTGGAGCTTCATCTCTGAAGTAATGCATGTTGTTCATTGGAGCAGGCTATTTCTTTTGAAGCCTCCTTACTCTGTACATGCAACCTTTATTCCCACCGGGTTCTTAGCAAGATTTAGAACACCTGGAATTCTTGACTCTTGCTTCTTCCATTCATGGCCTCTTTTGCTTTCATACTTCCTTTCCCCCCAATCTCCTCTTCTGAAATAACCTGAACTGTCTATGGTCTTCTTATCCCACTTGTTTGGCACCAAGAGATTATTCCTTCTCTTGGCCCTAATTTGGGCTTCTTGGCATTTTTCCTATATGCCTGATATCTGTGGCCAACCCCCCAAAAAACTTAGAAGTAGATATAATTCTCCATGTGGAAGTAAAGATTCTTGTCCCAACATTGGGTATGAAAAACCTGATCTATAGTCTCTTCTTTTTTTTTTTTTGAGACAAAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGATGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCGGGGACT
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ATCTTCATCAACACAAATGCTCCAATCTGACTCGGAGAATACAATTTCCCATGAGCCTCAACCCAGGCATCACCATTGGAGGCACGGACAATTTTAAAGGGAACATTTTTACTGTAAGACACAAAAATTCTATTAGAGAAAACTACCTGAACAACTTACCATGACAAAATTACCACATACCATGAACATCCATCTTCCACCCCAAGAGACTCATTCATGGCCAACAAATGACAGTTTGTGAAATTCTTTAGAAAGCAATCACTAACATGGTTTATGAGAATTACAAGGCAAAATGAAATAAATAAATAAAAAGAAAGCAATCACTAACATATAAAAACATTATGATGAAACCTCAACATTCTTTATTTAGCGCCCCAGGCAGAAGATTTTTGCAGCCACTTTAGAATAATTTGATGAAACCGTTACTGTATGATCCAGCAATTCTACTCTCTAAGACAAATGGAAATATTTATGTCCACACAAAAACTTGTACACAAATGTTTATGGCAGCATTATTTCTAATAGCCAAAAAGCAGAAACAGCTCAAATGTCCATCACTTGACAAATGGATAAACAAAATGTGCTGTATGTCCATACAGTATAGTATTATTTGGCCATAAAAAGGAATGCAGTACTGACACATGCTACAACATGGATGAACCTTGAAAACATGCTAAGTGAAAGAAGCCAGTCATAGAGGTCCACGCAACTCCATGCATACAGAATTCATATTCTACTCAAGCTCAATAAAGCTGTTTAAATTTTTAAAAATATTTAGTTTATATATATATAGACAGAGACACACACAGTCTTGCCTTGTTGGCCTAGATGGTCTTAAACTCAGCCTCAGACAGTCTTTCCACCTCTGCCTCCTAAAGTGCTAGGATTACAGACATGAGCCACTGCTCTAGGCCTAAAACATTTTGTATACAACAGGAAACTCTACCTATGCTTCTAGTTTTTTTTTTTTTTGAGACAGGGTTTCACTGCTATTACTCAGACTGGAGTGCAATGGCATGATCTCAGCTCACTGGAACCTCCGCCCCTCAACGCTCAAGCCTCACTAGTAGCTGGGACTATAGGCGCGCACCACCGAGCTTGGCTCTTTTTTGTATTTTTTGCAGAGGTGGCTTTTCCCCAAGTTGTCCAGGCTGGTCTCGAACTCCTGAGCTCACCTCAGCCTCCCAAAGTGTTAGGATTACAGGTGTGAGTCACCCCACCGAGCCTCTAGTATGTCTATTTTAGAAAAAGGCAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAATAATTTGGGAGGCTGGGGTGGAAGGGTCAGTTGAGTCCAGGAGTTCAACACCAACTTGGGCAACATAGTGAGCCCCGTTTCTATTGGGAGGGGGGAAGAAAAAAGAAAAATCAAGTCTTTTTCTGTACTGGATCAACACATGATAGAACCTATGCCATTTCTGCCTTATGTATTCAACACTGAACTATGTGGTTTAGGAATGCTTTGCAAATTTTCATGTATCATGTCAATACATAGCAAAGACCTAATCTGTAAAGACAAAAATGAATTTTTTTCTTTTGAGACAGAGTCTCAGCAGCCCAGGCTGGAGTGCAGTGGCAGTGATCTCGGCTCACCGCAACCACCGTCTCCCGGGTTCAAGTGATTCTCCCGTCTCAGCCTCCTGAGTAGCCGGGATTACAGGCACCCACCATCATGCACAGCTAATTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCACTGGCCAAAAATGAATTTTTTAAAGGGATTACCCTTTTGGCAGTGGTACAGATTTCCCCTAGGGACAATAAGTAAAATTACTAAAGTAAGGTGCTCCAGGGATCCTCATCAACATGCTGAGGCTCTTCTGTGTGGCCCTTGCAAATAACTGCTTTTTGCAAAAAACTTTTGCTGTTACTCACATGTCTTTCTGTACTTCAGGATCATCACATCGCCGGCCAATGAGACGCTTGGTAGCATAAAATGTATTGTTTGGGTTGGTGACAGCCTGTCGCTTGGCCGGCATTCCAACAAGTCGCTCACCATCTGCTGTAAAGGCCACAACTGAAGGGGTGGTTCTGGCACCTTCGGCATTCTCCAGCACCTAAACTCCCAAAATGTGATAGAGAGTAAGTTTGTAGTTATCACTGGTATGTTTTTTGAGATGGAGTCTCACTCTGTCGCTAAGGCTGGAGTACAATGGCACAATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGCGATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGTACTATAGGCGTGCACCACCACACCAAGCTAATTTTTCGGCATTTTTTAGTAGAGACGGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCGAAGTGTTGCGATACAGGCATGAGCCAATACGCCCAGCCTATTACTGGTATGTTTGCAGCAATCATTTAAGACACAGAAACAGCTCCCAAATTGCGAAACAAATGCACATCAACAATACTACCGGGCATGCTTTACTGCTGATAGTTAATGAACAGTAGATATTTAGTTAAGGTATCTTTAGCCCTTTACTTTCAAACTACTATTTTTTTTTTTTTTTTGAGAGGGAGTCTCGCTCTTGTCACCCAGACTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAACTCCCTGTCCTGGGTTCAATTCTCCTACTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCAACTAATTTTGTGTGTGTGTGTGTGTGTGTGTACTTTTAGTAGAGATGGGGTTTTGCCAAGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCGCCCACCTTGGCCTCCCAAAATGCTGGGATTACAGGCTTGAGGCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCACCTAGGCTGGAGTGCAGTGGCACTGTCACGGCTCACTGCAGCATTGACCTGCCAGCCTCAGCTGATCCTCCCACCTTAGCCTCCAGAGTAGCTGGGACTACAGGGGCACACCACTATGCCCGGCTAATTTTTTGTAGAGACAGTGTTTTGCTATGTTGCCTAGGGTGATCTTCAACTCCCACACTCAAGTGGCCTCCCCAAGTGTTGGGATTACAGGCATGACCCACCAGGCCTGGCCCTGATTTACATTTTAAAAACTGCTTTGGTTGCTTAAGACTCTTGTCAGGTGAACCTTTGTAGTGCTGATAATTGTATGTATCTAACTTCCCAGAAAAGGATTTAAATGTGGTATAGAGGTAGGACTACTAATTTACTATTAAGAGGGGTGGGAATGGCTTGCACTGTTTGGTTACTCTGGTAACCACCAAAGTGCTGCATTTTCTAAATTGAAACAAAGTTGGGTGTGCAGAGACAGACTAGAAGTGGAGCTTCATCTCTGAAGTAATGCATGTTGTTCATTGGAGCAGGCTATTTCTTTTGAAGCCTCCTTACTCTGTACATGCAACCTTTATTCCCACCGGGTTCTTAGCAAGATTTAGAACACCTGGAATTCTTGACTCTTGCTTCTTCCATTCATGGCCTCTTTTGCTTTCATACTTCCTTTCCCCCCAATCTCCTCTTCTGAAATAACCTGAACTGTCTATGGTCTTCTTATCCCACTTGTTTGGCACCAAGAGATTATTCCTTCTCTTGGCCCTAATTTGGGCTTCTTGGCATTTTTCCTATATGCCTGATATCTGTGGCCAACCCCCCAAAAAACTTAGAAGTAGATATAATTCTCCATGTGGAAGTAAAGATTCTTGTCCCAACATTGGGTATGAAAAACCTGATCTATAGTCTCTTCTTTTTTTTTTTTTGAGACAAAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGATGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCGGGGACT
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Task1_train_9537
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Here is a variant affecting HSPA9 (heat shock protein family A (Hsp70) member 9) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Even-plus syndrome
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TCAACACAAATGCTCCAATCTGACTCGGAGAATACAATTTCCCATGAGCCTCAACCCAGGCATCACCATTGGAGGCACGGACAATTTTAAAGGGAACATTTTTACTGTAAGACACAAAAATTCTATTAGAGAAAACTACCTGAACAACTTACCATGACAAAATTACCACATACCATGAACATCCATCTTCCACCCCAAGAGACTCATTCATGGCCAACAAATGACAGTTTGTGAAATTCTTTAGAAAGCAATCACTAACATGGTTTATGAGAATTACAAGGCAAAATGAAATAAATAAATAAAAAGAAAGCAATCACTAACATATAAAAACATTATGATGAAACCTCAACATTCTTTATTTAGCGCCCCAGGCAGAAGATTTTTGCAGCCACTTTAGAATAATTTGATGAAACCGTTACTGTATGATCCAGCAATTCTACTCTCTAAGACAAATGGAAATATTTATGTCCACACAAAAACTTGTACACAAATGTTTATGGCAGCATTATTTCTAATAGCCAAAAAGCAGAAACAGCTCAAATGTCCATCACTTGACAAATGGATAAACAAAATGTGCTGTATGTCCATACAGTATAGTATTATTTGGCCATAAAAAGGAATGCAGTACTGACACATGCTACAACATGGATGAACCTTGAAAACATGCTAAGTGAAAGAAGCCAGTCATAGAGGTCCACGCAACTCCATGCATACAGAATTCATATTCTACTCAAGCTCAATAAAGCTGTTTAAATTTTTAAAAATATTTAGTTTATATATATATAGACAGAGACACACACAGTCTTGCCTTGTTGGCCTAGATGGTCTTAAACTCAGCCTCAGACAGTCTTTCCACCTCTGCCTCCTAAAGTGCTAGGATTACAGACATGAGCCACTGCTCTAGGCCTAAAACATTTTGTATACAACAGGAAACTCTACCTATGCTTCTAGTTTTTTTTTTTTTTGAGACAGGGTTTCACTGCTATTACTCAGACTGGAGTGCAATGGCATGATCTCAGCTCACTGGAACCTCCGCCCCTCAACGCTCAAGCCTCACTAGTAGCTGGGACTATAGGCGCGCACCACCGAGCTTGGCTCTTTTTTGTATTTTTTGCAGAGGTGGCTTTTCCCCAAGTTGTCCAGGCTGGTCTCGAACTCCTGAGCTCACCTCAGCCTCCCAAAGTGTTAGGATTACAGGTGTGAGTCACCCCACCGAGCCTCTAGTATGTCTATTTTAGAAAAAGGCAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAATAATTTGGGAGGCTGGGGTGGAAGGGTCAGTTGAGTCCAGGAGTTCAACACCAACTTGGGCAACATAGTGAGCCCCGTTTCTATTGGGAGGGGGGAAGAAAAAAGAAAAATCAAGTCTTTTTCTGTACTGGATCAACACATGATAGAACCTATGCCATTTCTGCCTTATGTATTCAACACTGAACTATGTGGTTTAGGAATGCTTTGCAAATTTTCATGTATCATGTCAATACATAGCAAAGACCTAATCTGTAAAGACAAAAATGAATTTTTTTCTTTTGAGACAGAGTCTCAGCAGCCCAGGCTGGAGTGCAGTGGCAGTGATCTCGGCTCACCGCAACCACCGTCTCCCGGGTTCAAGTGATTCTCCCGTCTCAGCCTCCTGAGTAGCCGGGATTACAGGCACCCACCATCATGCACAGCTAATTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCACTGGCCAAAAATGAATTTTTTAAAGGGATTACCCTTTTGGCAGTGGTACAGATTTCCCCTAGGGACAATAAGTAAAATTACTAAAGTAAGGTGCTCCAGGGATCCTCATCAACATGCTGAGGCTCTTCTGTGTGGCCCTTGCAAATAACTGCTTTTTGCAAAAAACTTTTGCTGTTACTCACATGTCTTTCTGTACTTCAGGATCATCATATCGCCGGCCAATGAGACGCTTGGTAGCATAAAATGTATTGTTTGGGTTGGTGACAGCCTGTCGCTTGGCCGGCATTCCAACAAGTCGCTCACCATCTGCTGTAAAGGCCACAACTGAAGGGGTGGTTCTGGCACCTTCGGCATTCTCCAGCACCTAAACTCCCAAAATGTGATAGAGAGTAAGTTTGTAGTTATCACTGGTATGTTTTTTGAGATGGAGTCTCACTCTGTCGCTAAGGCTGGAGTACAATGGCACAATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGCGATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGTACTATAGGCGTGCACCACCACACCAAGCTAATTTTTCGGCATTTTTTAGTAGAGACGGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCGAAGTGTTGCGATACAGGCATGAGCCAATACGCCCAGCCTATTACTGGTATGTTTGCAGCAATCATTTAAGACACAGAAACAGCTCCCAAATTGCGAAACAAATGCACATCAACAATACTACCGGGCATGCTTTACTGCTGATAGTTAATGAACAGTAGATATTTAGTTAAGGTATCTTTAGCCCTTTACTTTCAAACTACTATTTTTTTTTTTTTTTTGAGAGGGAGTCTCGCTCTTGTCACCCAGACTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAACTCCCTGTCCTGGGTTCAATTCTCCTACTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCAACTAATTTTGTGTGTGTGTGTGTGTGTGTGTACTTTTAGTAGAGATGGGGTTTTGCCAAGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCGCCCACCTTGGCCTCCCAAAATGCTGGGATTACAGGCTTGAGGCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCACCTAGGCTGGAGTGCAGTGGCACTGTCACGGCTCACTGCAGCATTGACCTGCCAGCCTCAGCTGATCCTCCCACCTTAGCCTCCAGAGTAGCTGGGACTACAGGGGCACACCACTATGCCCGGCTAATTTTTTGTAGAGACAGTGTTTTGCTATGTTGCCTAGGGTGATCTTCAACTCCCACACTCAAGTGGCCTCCCCAAGTGTTGGGATTACAGGCATGACCCACCAGGCCTGGCCCTGATTTACATTTTAAAAACTGCTTTGGTTGCTTAAGACTCTTGTCAGGTGAACCTTTGTAGTGCTGATAATTGTATGTATCTAACTTCCCAGAAAAGGATTTAAATGTGGTATAGAGGTAGGACTACTAATTTACTATTAAGAGGGGTGGGAATGGCTTGCACTGTTTGGTTACTCTGGTAACCACCAAAGTGCTGCATTTTCTAAATTGAAACAAAGTTGGGTGTGCAGAGACAGACTAGAAGTGGAGCTTCATCTCTGAAGTAATGCATGTTGTTCATTGGAGCAGGCTATTTCTTTTGAAGCCTCCTTACTCTGTACATGCAACCTTTATTCCCACCGGGTTCTTAGCAAGATTTAGAACACCTGGAATTCTTGACTCTTGCTTCTTCCATTCATGGCCTCTTTTGCTTTCATACTTCCTTTCCCCCCAATCTCCTCTTCTGAAATAACCTGAACTGTCTATGGTCTTCTTATCCCACTTGTTTGGCACCAAGAGATTATTCCTTCTCTTGGCCCTAATTTGGGCTTCTTGGCATTTTTCCTATATGCCTGATATCTGTGGCCAACCCCCCAAAAAACTTAGAAGTAGATATAATTCTCCATGTGGAAGTAAAGATTCTTGTCCCAACATTGGGTATGAAAAACCTGATCTATAGTCTCTTCTTTTTTTTTTTTTGAGACAAAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGATGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCGGGGACTACAGGTG
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TCAACACAAATGCTCCAATCTGACTCGGAGAATACAATTTCCCATGAGCCTCAACCCAGGCATCACCATTGGAGGCACGGACAATTTTAAAGGGAACATTTTTACTGTAAGACACAAAAATTCTATTAGAGAAAACTACCTGAACAACTTACCATGACAAAATTACCACATACCATGAACATCCATCTTCCACCCCAAGAGACTCATTCATGGCCAACAAATGACAGTTTGTGAAATTCTTTAGAAAGCAATCACTAACATGGTTTATGAGAATTACAAGGCAAAATGAAATAAATAAATAAAAAGAAAGCAATCACTAACATATAAAAACATTATGATGAAACCTCAACATTCTTTATTTAGCGCCCCAGGCAGAAGATTTTTGCAGCCACTTTAGAATAATTTGATGAAACCGTTACTGTATGATCCAGCAATTCTACTCTCTAAGACAAATGGAAATATTTATGTCCACACAAAAACTTGTACACAAATGTTTATGGCAGCATTATTTCTAATAGCCAAAAAGCAGAAACAGCTCAAATGTCCATCACTTGACAAATGGATAAACAAAATGTGCTGTATGTCCATACAGTATAGTATTATTTGGCCATAAAAAGGAATGCAGTACTGACACATGCTACAACATGGATGAACCTTGAAAACATGCTAAGTGAAAGAAGCCAGTCATAGAGGTCCACGCAACTCCATGCATACAGAATTCATATTCTACTCAAGCTCAATAAAGCTGTTTAAATTTTTAAAAATATTTAGTTTATATATATATAGACAGAGACACACACAGTCTTGCCTTGTTGGCCTAGATGGTCTTAAACTCAGCCTCAGACAGTCTTTCCACCTCTGCCTCCTAAAGTGCTAGGATTACAGACATGAGCCACTGCTCTAGGCCTAAAACATTTTGTATACAACAGGAAACTCTACCTATGCTTCTAGTTTTTTTTTTTTTTGAGACAGGGTTTCACTGCTATTACTCAGACTGGAGTGCAATGGCATGATCTCAGCTCACTGGAACCTCCGCCCCTCAACGCTCAAGCCTCACTAGTAGCTGGGACTATAGGCGCGCACCACCGAGCTTGGCTCTTTTTTGTATTTTTTGCAGAGGTGGCTTTTCCCCAAGTTGTCCAGGCTGGTCTCGAACTCCTGAGCTCACCTCAGCCTCCCAAAGTGTTAGGATTACAGGTGTGAGTCACCCCACCGAGCCTCTAGTATGTCTATTTTAGAAAAAGGCAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAATAATTTGGGAGGCTGGGGTGGAAGGGTCAGTTGAGTCCAGGAGTTCAACACCAACTTGGGCAACATAGTGAGCCCCGTTTCTATTGGGAGGGGGGAAGAAAAAAGAAAAATCAAGTCTTTTTCTGTACTGGATCAACACATGATAGAACCTATGCCATTTCTGCCTTATGTATTCAACACTGAACTATGTGGTTTAGGAATGCTTTGCAAATTTTCATGTATCATGTCAATACATAGCAAAGACCTAATCTGTAAAGACAAAAATGAATTTTTTTCTTTTGAGACAGAGTCTCAGCAGCCCAGGCTGGAGTGCAGTGGCAGTGATCTCGGCTCACCGCAACCACCGTCTCCCGGGTTCAAGTGATTCTCCCGTCTCAGCCTCCTGAGTAGCCGGGATTACAGGCACCCACCATCATGCACAGCTAATTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCACTGGCCAAAAATGAATTTTTTAAAGGGATTACCCTTTTGGCAGTGGTACAGATTTCCCCTAGGGACAATAAGTAAAATTACTAAAGTAAGGTGCTCCAGGGATCCTCATCAACATGCTGAGGCTCTTCTGTGTGGCCCTTGCAAATAACTGCTTTTTGCAAAAAACTTTTGCTGTTACTCACATGTCTTTCTGTACTTCAGGATCATCATATCGCCAGCCAATGAGACGCTTGGTAGCATAAAATGTATTGTTTGGGTTGGTGACAGCCTGTCGCTTGGCCGGCATTCCAACAAGTCGCTCACCATCTGCTGTAAAGGCCACAACTGAAGGGGTGGTTCTGGCACCTTCGGCATTCTCCAGCACCTAAACTCCCAAAATGTGATAGAGAGTAAGTTTGTAGTTATCACTGGTATGTTTTTTGAGATGGAGTCTCACTCTGTCGCTAAGGCTGGAGTACAATGGCACAATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGCGATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGTACTATAGGCGTGCACCACCACACCAAGCTAATTTTTCGGCATTTTTTAGTAGAGACGGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCGAAGTGTTGCGATACAGGCATGAGCCAATACGCCCAGCCTATTACTGGTATGTTTGCAGCAATCATTTAAGACACAGAAACAGCTCCCAAATTGCGAAACAAATGCACATCAACAATACTACCGGGCATGCTTTACTGCTGATAGTTAATGAACAGTAGATATTTAGTTAAGGTATCTTTAGCCCTTTACTTTCAAACTACTATTTTTTTTTTTTTTTTGAGAGGGAGTCTCGCTCTTGTCACCCAGACTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAACTCCCTGTCCTGGGTTCAATTCTCCTACTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCAACTAATTTTGTGTGTGTGTGTGTGTGTGTGTACTTTTAGTAGAGATGGGGTTTTGCCAAGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCGCCCACCTTGGCCTCCCAAAATGCTGGGATTACAGGCTTGAGGCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCACCTAGGCTGGAGTGCAGTGGCACTGTCACGGCTCACTGCAGCATTGACCTGCCAGCCTCAGCTGATCCTCCCACCTTAGCCTCCAGAGTAGCTGGGACTACAGGGGCACACCACTATGCCCGGCTAATTTTTTGTAGAGACAGTGTTTTGCTATGTTGCCTAGGGTGATCTTCAACTCCCACACTCAAGTGGCCTCCCCAAGTGTTGGGATTACAGGCATGACCCACCAGGCCTGGCCCTGATTTACATTTTAAAAACTGCTTTGGTTGCTTAAGACTCTTGTCAGGTGAACCTTTGTAGTGCTGATAATTGTATGTATCTAACTTCCCAGAAAAGGATTTAAATGTGGTATAGAGGTAGGACTACTAATTTACTATTAAGAGGGGTGGGAATGGCTTGCACTGTTTGGTTACTCTGGTAACCACCAAAGTGCTGCATTTTCTAAATTGAAACAAAGTTGGGTGTGCAGAGACAGACTAGAAGTGGAGCTTCATCTCTGAAGTAATGCATGTTGTTCATTGGAGCAGGCTATTTCTTTTGAAGCCTCCTTACTCTGTACATGCAACCTTTATTCCCACCGGGTTCTTAGCAAGATTTAGAACACCTGGAATTCTTGACTCTTGCTTCTTCCATTCATGGCCTCTTTTGCTTTCATACTTCCTTTCCCCCCAATCTCCTCTTCTGAAATAACCTGAACTGTCTATGGTCTTCTTATCCCACTTGTTTGGCACCAAGAGATTATTCCTTCTCTTGGCCCTAATTTGGGCTTCTTGGCATTTTTCCTATATGCCTGATATCTGTGGCCAACCCCCCAAAAAACTTAGAAGTAGATATAATTCTCCATGTGGAAGTAAAGATTCTTGTCCCAACATTGGGTATGAAAAACCTGATCTATAGTCTCTTCTTTTTTTTTTTTTGAGACAAAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGATGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCGGGGACTACAGGTG
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Task1_train_9538
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This sequence variant lies in CTNNA1 (catenin alpha 1) on Chromosome 5. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Patterned macular dystrophy 2
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ATTAAAAAAAAAAAAAACAAACCAAAAAACAGAAATTGTGTTCCAGGTGACCAGCATCCTTTCATAAAGTAGGGATGCTATGAAATATAGAATAAAAAAAAATTACAATGGAGTGCATTTTGTTTTTAAGTTTTTCCTTGCCTTTACCTTTTCTTTCTTTTGCCACTTTACTTTCGCTTAGGTAGCTGATCCTTGTTGATATGCATGGCCGATTTAAGACTTTTTCATAAAGCAAGAAGGCAGTGTTAAGTCTAAAGACCATGGTGTTAGAACTCAGTTTTTACCATGGAGCTTTAAACATTAAATTATTTTATAACAAACTCTTATGGTGCATGTTAAAATTTACTAGCAATGTTGTTTTTCCCCCCTTCAAAATTTGGCAGTATTAGGTATCTTTCAGGGTAGTAGCACATTTTGCCCTAAGTTGAGTAATATCTACCAGAAGCTACTTAACTTCTCAGGGACACAGGTATTTGTAAAATGAGGGTTTGTGCTAAATGATCTCAGGCTCATTGAGGCTCTGTTACTCTATTAAAATTCTATGACCATTCATTTCTCATTTTTGTTGGCCAGAAAGCATTTTGTATTCAGTTTTGACCAGAGAAATCCTGTAATAACCTAACCTTACAAAAAATGATCAGCTAAAATGTGTAGGTTAATAATGAACTGAAGGTATTGCATGTTCAGTTTGAAAACTGAGGGTTCTTTGGAAGGGAAGGAAGAAATGTATACTTATTGGAAAAGGGCAAGGTTTTGGTAGAAAAAATTTGGCATTTAAGTTGAAATCAATAAGGACATAGTCTCTGTAAAGAAAAATTAAAGCCATAATATTTGCACAGACATTTATCAGGGTGAGGATAAATTATATCAAGTGGAGGAATTGGAGGGAGGCCAGTAGCTGCTGTCTTGAGGATGCCGATGTTTCACCTTGTACCTATAGCTTACTTGTGACCAGACCTCACTAAATGCTAGAAAAGCTGGATGTAAGTGGAGTCAGGAGGGAAGGGGAGACAGAAAAAGGATTTATTCTTATTGGAGCAGTTCTTCCTCACAGCTTAGGTTTTTGGGAGGATTGCTATCATCTCTTACAGAATACTAGAGGTCTTTGAGGAAAGGAAGTCTCTAATTTAGACATAACAGGATAAATTTGAGACTGAATTATTTAGAAAACTTGATTAGATGTGTAAGATGAGGCAAATAGATGGAAATTCATTGTAAATGCATTTCTTTCTGAAACTTTAAGGTTAGAGATCAGTTTGTATGTGTGCGCACACGTGTATATATTTTAAGAGACAAAGTCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCACTGCAGCCTTGAACTTCTGGGTTCAAGTGATCCTCCCGAGTAGCTGGGACTATAGGCGTGTGCCACCATGCCCAACTTATTTTATTTTTTTGTAGAGACAGGGTCTTGCCTCGTTGCCTAGGCTGGTGTTCAACTGGCCTCAAACAATCCTCCTTCAATCTCTCAAAGTGTTGAGATTACAGGCATAAGCCACCACACCTGGCTTGTTTGGCTTTTATTTTTTAATTTTTTTGTGGTGCAACAGTTCTAAATATCACATGGCAGTTTTATATTCTGCAAGTAAGAGGTAACTTTTATTTTCCTTGTAATTCTCATCTGATGATTTGAATTGCTAGTCTTATACGGGTTTACCTTTAGATGTTCAGAATAAGTTGTGTGAGCATGATATGTTTGTATTTGTGGTATCATACCTTATCATGCCTTGTTTGGCTACATAGCATTACTTCCACTGCTTTCTTTGAGGAGTGATCAACAGTAGGCCATCTTCTGTGGGACAGCCCCTTACCTGCTAAGAAGTATAACTTTCTTTCAGATGTTGGAATTTTTGTGTTAAATCTTGATATTACTAATAACACTTTTCTCACCTTGAATAAAGAAGGGAACAGAGATGAGTACTAACATTCGGTAATACTTTCTCTGCAGAAACAAATCATTGTGGACCCCTTGAGCTTCAGCGAGGAGCGCTTTAGGCCTTCCCTGGAGGAGCGTCTGGAAAGCATCATTAGTGGGGCTGCCTTGATGGCCGACTCGTCCTGCACGCGTGATGACCGTCGTGAGCGAATTGTGGCAGAGTGTAATGCTGTCCGCCAGGCCCTGCAGGACCTGCTTTCGGAGTACATGGGCAATGTGAGTTTGACAGCTTTTCTTTGAAGTAAGATATTTATGGATGAGGAGTTTTCTATAACATGTTGGATCTGAGATGTTTTCACTATAAATACCAAATATGTCCTTGACTCCTTGATTTTTGGGAGTAGGTCAGATTTTTAAAGAAATGGATAAATGGCTAAGTGGCTCTTTCCTCTCTCCAGCTTATTGAGAAATTTTCAACTTATAAAAATCATACAGTGAATACCTAGGAAATTTATCTGTATTCATCAATTAACATGTAGATACATGTGTAGGTGTGTGTATATATAAATGTATATGTATGTATGGTATATACACAAACATCCTTTTTTCCCCCGAAGCCTTTGGAAGAAAGTTGTAGACATTGTGATGCTTCACCTCTAATATTTTAGCATGCCTCTCCAAAGAATAATGACCTTCTATACCACTAAAGTTTCATTATCCCAAGTAGGTGGCTAATTTTGGGCAAAAGGGAATGTTGAAAACCTGCCTCCTCAATATTTATAGTTGTGAAAGTTTTTTCGTGAACCATATTGAATGTCACAAGAGTAGATAATTGCCAAGTAGAGTTACATAAAGCAAACTCTGGATAGTGTTTTTGAATTTTGAAGGTTTGTGCATAAAAACCCAGGCTATGAAATTTGATACCCACTTTTTTTTTAAAAGGCCATAGAAAATTCTATATTTGTTGATTTTTCTCTGTTGCCATATGTCTTTCTTTTTTTCCTTCGCTTATACTTCTTCTATTCTGGTTATTTAATGCTAGCTTAGGGTTCCTGTCATTTAGACCTTGGACCCAATATTTTACTGTAGCTAATTAGCAATAAATTAAGTAAAAATTATATGAAATCATTTTAAGGGGAAGAAGGACAACAACACAAATTAGTTGTCATCACTAGCGTTTTTTACCTGTTTAACACCTAAAAAAAAGATCTTGGTTCTTTCTCATTTGTTCGTTTGCCATACATCTTGTCTGTTCACTTACAGGCCTGTAAAAGTTAATGGGTGATGGTAAATCATGGTGGAATTCCTAGGGTGAAGATGAATGCCTTCCTCTGTTTATCTTGTCTCTACCATACTGTGAAATTAGTGATGCATATTGAATTTTTTTAAAGCCATTGCCCCCTGGGCATGATGGTTCAAGCCTGTAGTCCCAGCGTTTTGGGAGGCTGAGGTGGGTGGATTGCGTGAGCCCAAGAGTTTGAGACCATCTTGGGCAACATGGTGAAATCCCATCTCTACAAAAAATACAAAAGTTAACTGGGCATGGTGGCGCACGCCTGGTCTCAGCTACTCGGGAGGCTGAGGCGGAAGAATCGCTTAAGCCTGGGAGGTTGTGGCTACAGTGAACCATGGTCGCGCCACTGTGCTCCAGCCTGGGCGACAGAGCGAGAGTGTCTCAAAAAAAAAAGCCATGTTTTGATTATAGGCAGTCTACTTAAGAAAAATGAGATTAGAGGTTTTGTTAAATCAAATGGAAAAAGTGGTTTTTAAGTCACAGTGAAAATGTGGGACACATTTAAAAATCCATAGCTAAGATTGAACATTAGAAAATATTTTAAAAGATGGATATGTTGCAGAATGGCTCACAATGTTGCAGTCTTAAACAGGGGAACAAAAACTCATGGTAAGTGGATCAGTCATCTGCTATCATGGGTAGTGCTGGAAATGGTGTAAAAGTGTCTTATGTAGTTATGATGAGGAAATCACTTCAAAAACAGACTTTGGTGGGAAGGAGGATGTGATAAATCTGTTCCGATTGCTCCGTTTTAGAGCCTCCTAATCAGTCTATAAGATATCCCTTGAGTCTTGAGGTTGGTCACATTCTTGGGCCAATCACCCCTGGTCATGAGTAACCTTGAGGTTTCGAAACCTAGAGTGCCATACAAACAGTACTGTCTATT
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ATTAAAAAAAAAAAAAACAAACCAAAAAACAGAAATTGTGTTCCAGGTGACCAGCATCCTTTCATAAAGTAGGGATGCTATGAAATATAGAATAAAAAAAAATTACAATGGAGTGCATTTTGTTTTTAAGTTTTTCCTTGCCTTTACCTTTTCTTTCTTTTGCCACTTTACTTTCGCTTAGGTAGCTGATCCTTGTTGATATGCATGGCCGATTTAAGACTTTTTCATAAAGCAAGAAGGCAGTGTTAAGTCTAAAGACCATGGTGTTAGAACTCAGTTTTTACCATGGAGCTTTAAACATTAAATTATTTTATAACAAACTCTTATGGTGCATGTTAAAATTTACTAGCAATGTTGTTTTTCCCCCCTTCAAAATTTGGCAGTATTAGGTATCTTTCAGGGTAGTAGCACATTTTGCCCTAAGTTGAGTAATATCTACCAGAAGCTACTTAACTTCTCAGGGACACAGGTATTTGTAAAATGAGGGTTTGTGCTAAATGATCTCAGGCTCATTGAGGCTCTGTTACTCTATTAAAATTCTATGACCATTCATTTCTCATTTTTGTTGGCCAGAAAGCATTTTGTATTCAGTTTTGACCAGAGAAATCCTGTAATAACCTAACCTTACAAAAAATGATCAGCTAAAATGTGTAGGTTAATAATGAACTGAAGGTATTGCATGTTCAGTTTGAAAACTGAGGGTTCTTTGGAAGGGAAGGAAGAAATGTATACTTATTGGAAAAGGGCAAGGTTTTGGTAGAAAAAATTTGGCATTTAAGTTGAAATCAATAAGGACATAGTCTCTGTAAAGAAAAATTAAAGCCATAATATTTGCACAGACATTTATCAGGGTGAGGATAAATTATATCAAGTGGAGGAATTGGAGGGAGGCCAGTAGCTGCTGTCTTGAGGATGCCGATGTTTCACCTTGTACCTATAGCTTACTTGTGACCAGACCTCACTAAATGCTAGAAAAGCTGGATGTAAGTGGAGTCAGGAGGGAAGGGGAGACAGAAAAAGGATTTATTCTTATTGGAGCAGTTCTTCCTCACAGCTTAGGTTTTTGGGAGGATTGCTATCATCTCTTACAGAATACTAGAGGTCTTTGAGGAAAGGAAGTCTCTAATTTAGACATAACAGGATAAATTTGAGACTGAATTATTTAGAAAACTTGATTAGATGTGTAAGATGAGGCAAATAGATGGAAATTCATTGTAAATGCATTTCTTTCTGAAACTTTAAGGTTAGAGATCAGTTTGTATGTGTGCGCACACGTGTATATATTTTAAGAGACAAAGTCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCACTGCAGCCTTGAACTTCTGGGTTCAAGTGATCCTCCCGAGTAGCTGGGACTATAGGCGTGTGCCACCATGCCCAACTTATTTTATTTTTTTGTAGAGACAGGGTCTTGCCTCGTTGCCTAGGCTGGTGTTCAACTGGCCTCAAACAATCCTCCTTCAATCTCTCAAAGTGTTGAGATTACAGGCATAAGCCACCACACCTGGCTTGTTTGGCTTTTATTTTTTAATTTTTTTGTGGTGCAACAGTTCTAAATATCACATGGCAGTTTTATATTCTGCAAGTAAGAGGTAACTTTTATTTTCCTTGTAATTCTCATCTGATGATTTGAATTGCTAGTCTTATACGGGTTTACCTTTAGATGTTCAGAATAAGTTGTGTGAGCATGATATGTTTGTATTTGTGGTATCATACCTTATCATGCCTTGTTTGGCTACATAGCATTACTTCCACTGCTTTCTTTGAGGAGTGATCAACAGTAGGCCATCTTCTGTGGGACAGCCCCTTACCTGCTAAGAAGTATAACTTTCTTTCAGATGTTGGAATTTTTGTGTTAAATCTTGATATTACTAATAACACTTTTCTCACCTTGAATAAAGAAGGGAACAGAGATGAGTACTAACATTCGGTAATACTTTCTCTGCAGAAACAAATCATTGTGGACCCCTTGAGCTTCAGCGAGGAGCGCTTTAGGCCTTCCCTGGAGAAGCGTCTGGAAAGCATCATTAGTGGGGCTGCCTTGATGGCCGACTCGTCCTGCACGCGTGATGACCGTCGTGAGCGAATTGTGGCAGAGTGTAATGCTGTCCGCCAGGCCCTGCAGGACCTGCTTTCGGAGTACATGGGCAATGTGAGTTTGACAGCTTTTCTTTGAAGTAAGATATTTATGGATGAGGAGTTTTCTATAACATGTTGGATCTGAGATGTTTTCACTATAAATACCAAATATGTCCTTGACTCCTTGATTTTTGGGAGTAGGTCAGATTTTTAAAGAAATGGATAAATGGCTAAGTGGCTCTTTCCTCTCTCCAGCTTATTGAGAAATTTTCAACTTATAAAAATCATACAGTGAATACCTAGGAAATTTATCTGTATTCATCAATTAACATGTAGATACATGTGTAGGTGTGTGTATATATAAATGTATATGTATGTATGGTATATACACAAACATCCTTTTTTCCCCCGAAGCCTTTGGAAGAAAGTTGTAGACATTGTGATGCTTCACCTCTAATATTTTAGCATGCCTCTCCAAAGAATAATGACCTTCTATACCACTAAAGTTTCATTATCCCAAGTAGGTGGCTAATTTTGGGCAAAAGGGAATGTTGAAAACCTGCCTCCTCAATATTTATAGTTGTGAAAGTTTTTTCGTGAACCATATTGAATGTCACAAGAGTAGATAATTGCCAAGTAGAGTTACATAAAGCAAACTCTGGATAGTGTTTTTGAATTTTGAAGGTTTGTGCATAAAAACCCAGGCTATGAAATTTGATACCCACTTTTTTTTTAAAAGGCCATAGAAAATTCTATATTTGTTGATTTTTCTCTGTTGCCATATGTCTTTCTTTTTTTCCTTCGCTTATACTTCTTCTATTCTGGTTATTTAATGCTAGCTTAGGGTTCCTGTCATTTAGACCTTGGACCCAATATTTTACTGTAGCTAATTAGCAATAAATTAAGTAAAAATTATATGAAATCATTTTAAGGGGAAGAAGGACAACAACACAAATTAGTTGTCATCACTAGCGTTTTTTACCTGTTTAACACCTAAAAAAAAGATCTTGGTTCTTTCTCATTTGTTCGTTTGCCATACATCTTGTCTGTTCACTTACAGGCCTGTAAAAGTTAATGGGTGATGGTAAATCATGGTGGAATTCCTAGGGTGAAGATGAATGCCTTCCTCTGTTTATCTTGTCTCTACCATACTGTGAAATTAGTGATGCATATTGAATTTTTTTAAAGCCATTGCCCCCTGGGCATGATGGTTCAAGCCTGTAGTCCCAGCGTTTTGGGAGGCTGAGGTGGGTGGATTGCGTGAGCCCAAGAGTTTGAGACCATCTTGGGCAACATGGTGAAATCCCATCTCTACAAAAAATACAAAAGTTAACTGGGCATGGTGGCGCACGCCTGGTCTCAGCTACTCGGGAGGCTGAGGCGGAAGAATCGCTTAAGCCTGGGAGGTTGTGGCTACAGTGAACCATGGTCGCGCCACTGTGCTCCAGCCTGGGCGACAGAGCGAGAGTGTCTCAAAAAAAAAAGCCATGTTTTGATTATAGGCAGTCTACTTAAGAAAAATGAGATTAGAGGTTTTGTTAAATCAAATGGAAAAAGTGGTTTTTAAGTCACAGTGAAAATGTGGGACACATTTAAAAATCCATAGCTAAGATTGAACATTAGAAAATATTTTAAAAGATGGATATGTTGCAGAATGGCTCACAATGTTGCAGTCTTAAACAGGGGAACAAAAACTCATGGTAAGTGGATCAGTCATCTGCTATCATGGGTAGTGCTGGAAATGGTGTAAAAGTGTCTTATGTAGTTATGATGAGGAAATCACTTCAAAAACAGACTTTGGTGGGAAGGAGGATGTGATAAATCTGTTCCGATTGCTCCGTTTTAGAGCCTCCTAATCAGTCTATAAGATATCCCTTGAGTCTTGAGGTTGGTCACATTCTTGGGCCAATCACCCCTGGTCATGAGTAACCTTGAGGTTTCGAAACCTAGAGTGCCATACAAACAGTACTGTCTATT
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Task1_train_9539
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Here’s a variant in CTNNA1 (catenin alpha 1) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Patterned macular dystrophy 2
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ATTGTGTTCCAGGTGACCAGCATCCTTTCATAAAGTAGGGATGCTATGAAATATAGAATAAAAAAAAATTACAATGGAGTGCATTTTGTTTTTAAGTTTTTCCTTGCCTTTACCTTTTCTTTCTTTTGCCACTTTACTTTCGCTTAGGTAGCTGATCCTTGTTGATATGCATGGCCGATTTAAGACTTTTTCATAAAGCAAGAAGGCAGTGTTAAGTCTAAAGACCATGGTGTTAGAACTCAGTTTTTACCATGGAGCTTTAAACATTAAATTATTTTATAACAAACTCTTATGGTGCATGTTAAAATTTACTAGCAATGTTGTTTTTCCCCCCTTCAAAATTTGGCAGTATTAGGTATCTTTCAGGGTAGTAGCACATTTTGCCCTAAGTTGAGTAATATCTACCAGAAGCTACTTAACTTCTCAGGGACACAGGTATTTGTAAAATGAGGGTTTGTGCTAAATGATCTCAGGCTCATTGAGGCTCTGTTACTCTATTAAAATTCTATGACCATTCATTTCTCATTTTTGTTGGCCAGAAAGCATTTTGTATTCAGTTTTGACCAGAGAAATCCTGTAATAACCTAACCTTACAAAAAATGATCAGCTAAAATGTGTAGGTTAATAATGAACTGAAGGTATTGCATGTTCAGTTTGAAAACTGAGGGTTCTTTGGAAGGGAAGGAAGAAATGTATACTTATTGGAAAAGGGCAAGGTTTTGGTAGAAAAAATTTGGCATTTAAGTTGAAATCAATAAGGACATAGTCTCTGTAAAGAAAAATTAAAGCCATAATATTTGCACAGACATTTATCAGGGTGAGGATAAATTATATCAAGTGGAGGAATTGGAGGGAGGCCAGTAGCTGCTGTCTTGAGGATGCCGATGTTTCACCTTGTACCTATAGCTTACTTGTGACCAGACCTCACTAAATGCTAGAAAAGCTGGATGTAAGTGGAGTCAGGAGGGAAGGGGAGACAGAAAAAGGATTTATTCTTATTGGAGCAGTTCTTCCTCACAGCTTAGGTTTTTGGGAGGATTGCTATCATCTCTTACAGAATACTAGAGGTCTTTGAGGAAAGGAAGTCTCTAATTTAGACATAACAGGATAAATTTGAGACTGAATTATTTAGAAAACTTGATTAGATGTGTAAGATGAGGCAAATAGATGGAAATTCATTGTAAATGCATTTCTTTCTGAAACTTTAAGGTTAGAGATCAGTTTGTATGTGTGCGCACACGTGTATATATTTTAAGAGACAAAGTCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCACTGCAGCCTTGAACTTCTGGGTTCAAGTGATCCTCCCGAGTAGCTGGGACTATAGGCGTGTGCCACCATGCCCAACTTATTTTATTTTTTTGTAGAGACAGGGTCTTGCCTCGTTGCCTAGGCTGGTGTTCAACTGGCCTCAAACAATCCTCCTTCAATCTCTCAAAGTGTTGAGATTACAGGCATAAGCCACCACACCTGGCTTGTTTGGCTTTTATTTTTTAATTTTTTTGTGGTGCAACAGTTCTAAATATCACATGGCAGTTTTATATTCTGCAAGTAAGAGGTAACTTTTATTTTCCTTGTAATTCTCATCTGATGATTTGAATTGCTAGTCTTATACGGGTTTACCTTTAGATGTTCAGAATAAGTTGTGTGAGCATGATATGTTTGTATTTGTGGTATCATACCTTATCATGCCTTGTTTGGCTACATAGCATTACTTCCACTGCTTTCTTTGAGGAGTGATCAACAGTAGGCCATCTTCTGTGGGACAGCCCCTTACCTGCTAAGAAGTATAACTTTCTTTCAGATGTTGGAATTTTTGTGTTAAATCTTGATATTACTAATAACACTTTTCTCACCTTGAATAAAGAAGGGAACAGAGATGAGTACTAACATTCGGTAATACTTTCTCTGCAGAAACAAATCATTGTGGACCCCTTGAGCTTCAGCGAGGAGCGCTTTAGGCCTTCCCTGGAGGAGCGTCTGGAAAGCATCATTAGTGGGGCTGCCTTGATGGCCGACTCGTCCTGCACGCGTGATGACCGTCGTGAGCGAATTGTGGCAGAGTGTAATGCTGTCCGCCAGGCCCTGCAGGACCTGCTTTCGGAGTACATGGGCAATGTGAGTTTGACAGCTTTTCTTTGAAGTAAGATATTTATGGATGAGGAGTTTTCTATAACATGTTGGATCTGAGATGTTTTCACTATAAATACCAAATATGTCCTTGACTCCTTGATTTTTGGGAGTAGGTCAGATTTTTAAAGAAATGGATAAATGGCTAAGTGGCTCTTTCCTCTCTCCAGCTTATTGAGAAATTTTCAACTTATAAAAATCATACAGTGAATACCTAGGAAATTTATCTGTATTCATCAATTAACATGTAGATACATGTGTAGGTGTGTGTATATATAAATGTATATGTATGTATGGTATATACACAAACATCCTTTTTTCCCCCGAAGCCTTTGGAAGAAAGTTGTAGACATTGTGATGCTTCACCTCTAATATTTTAGCATGCCTCTCCAAAGAATAATGACCTTCTATACCACTAAAGTTTCATTATCCCAAGTAGGTGGCTAATTTTGGGCAAAAGGGAATGTTGAAAACCTGCCTCCTCAATATTTATAGTTGTGAAAGTTTTTTCGTGAACCATATTGAATGTCACAAGAGTAGATAATTGCCAAGTAGAGTTACATAAAGCAAACTCTGGATAGTGTTTTTGAATTTTGAAGGTTTGTGCATAAAAACCCAGGCTATGAAATTTGATACCCACTTTTTTTTTAAAAGGCCATAGAAAATTCTATATTTGTTGATTTTTCTCTGTTGCCATATGTCTTTCTTTTTTTCCTTCGCTTATACTTCTTCTATTCTGGTTATTTAATGCTAGCTTAGGGTTCCTGTCATTTAGACCTTGGACCCAATATTTTACTGTAGCTAATTAGCAATAAATTAAGTAAAAATTATATGAAATCATTTTAAGGGGAAGAAGGACAACAACACAAATTAGTTGTCATCACTAGCGTTTTTTACCTGTTTAACACCTAAAAAAAAGATCTTGGTTCTTTCTCATTTGTTCGTTTGCCATACATCTTGTCTGTTCACTTACAGGCCTGTAAAAGTTAATGGGTGATGGTAAATCATGGTGGAATTCCTAGGGTGAAGATGAATGCCTTCCTCTGTTTATCTTGTCTCTACCATACTGTGAAATTAGTGATGCATATTGAATTTTTTTAAAGCCATTGCCCCCTGGGCATGATGGTTCAAGCCTGTAGTCCCAGCGTTTTGGGAGGCTGAGGTGGGTGGATTGCGTGAGCCCAAGAGTTTGAGACCATCTTGGGCAACATGGTGAAATCCCATCTCTACAAAAAATACAAAAGTTAACTGGGCATGGTGGCGCACGCCTGGTCTCAGCTACTCGGGAGGCTGAGGCGGAAGAATCGCTTAAGCCTGGGAGGTTGTGGCTACAGTGAACCATGGTCGCGCCACTGTGCTCCAGCCTGGGCGACAGAGCGAGAGTGTCTCAAAAAAAAAAGCCATGTTTTGATTATAGGCAGTCTACTTAAGAAAAATGAGATTAGAGGTTTTGTTAAATCAAATGGAAAAAGTGGTTTTTAAGTCACAGTGAAAATGTGGGACACATTTAAAAATCCATAGCTAAGATTGAACATTAGAAAATATTTTAAAAGATGGATATGTTGCAGAATGGCTCACAATGTTGCAGTCTTAAACAGGGGAACAAAAACTCATGGTAAGTGGATCAGTCATCTGCTATCATGGGTAGTGCTGGAAATGGTGTAAAAGTGTCTTATGTAGTTATGATGAGGAAATCACTTCAAAAACAGACTTTGGTGGGAAGGAGGATGTGATAAATCTGTTCCGATTGCTCCGTTTTAGAGCCTCCTAATCAGTCTATAAGATATCCCTTGAGTCTTGAGGTTGGTCACATTCTTGGGCCAATCACCCCTGGTCATGAGTAACCTTGAGGTTTCGAAACCTAGAGTGCCATACAAACAGTACTGTCTATTCATGCCATCAGTGTAAGAAAAGGTGGGAAGCACT
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ATTGTGTTCCAGGTGACCAGCATCCTTTCATAAAGTAGGGATGCTATGAAATATAGAATAAAAAAAAATTACAATGGAGTGCATTTTGTTTTTAAGTTTTTCCTTGCCTTTACCTTTTCTTTCTTTTGCCACTTTACTTTCGCTTAGGTAGCTGATCCTTGTTGATATGCATGGCCGATTTAAGACTTTTTCATAAAGCAAGAAGGCAGTGTTAAGTCTAAAGACCATGGTGTTAGAACTCAGTTTTTACCATGGAGCTTTAAACATTAAATTATTTTATAACAAACTCTTATGGTGCATGTTAAAATTTACTAGCAATGTTGTTTTTCCCCCCTTCAAAATTTGGCAGTATTAGGTATCTTTCAGGGTAGTAGCACATTTTGCCCTAAGTTGAGTAATATCTACCAGAAGCTACTTAACTTCTCAGGGACACAGGTATTTGTAAAATGAGGGTTTGTGCTAAATGATCTCAGGCTCATTGAGGCTCTGTTACTCTATTAAAATTCTATGACCATTCATTTCTCATTTTTGTTGGCCAGAAAGCATTTTGTATTCAGTTTTGACCAGAGAAATCCTGTAATAACCTAACCTTACAAAAAATGATCAGCTAAAATGTGTAGGTTAATAATGAACTGAAGGTATTGCATGTTCAGTTTGAAAACTGAGGGTTCTTTGGAAGGGAAGGAAGAAATGTATACTTATTGGAAAAGGGCAAGGTTTTGGTAGAAAAAATTTGGCATTTAAGTTGAAATCAATAAGGACATAGTCTCTGTAAAGAAAAATTAAAGCCATAATATTTGCACAGACATTTATCAGGGTGAGGATAAATTATATCAAGTGGAGGAATTGGAGGGAGGCCAGTAGCTGCTGTCTTGAGGATGCCGATGTTTCACCTTGTACCTATAGCTTACTTGTGACCAGACCTCACTAAATGCTAGAAAAGCTGGATGTAAGTGGAGTCAGGAGGGAAGGGGAGACAGAAAAAGGATTTATTCTTATTGGAGCAGTTCTTCCTCACAGCTTAGGTTTTTGGGAGGATTGCTATCATCTCTTACAGAATACTAGAGGTCTTTGAGGAAAGGAAGTCTCTAATTTAGACATAACAGGATAAATTTGAGACTGAATTATTTAGAAAACTTGATTAGATGTGTAAGATGAGGCAAATAGATGGAAATTCATTGTAAATGCATTTCTTTCTGAAACTTTAAGGTTAGAGATCAGTTTGTATGTGTGCGCACACGTGTATATATTTTAAGAGACAAAGTCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCACTGCAGCCTTGAACTTCTGGGTTCAAGTGATCCTCCCGAGTAGCTGGGACTATAGGCGTGTGCCACCATGCCCAACTTATTTTATTTTTTTGTAGAGACAGGGTCTTGCCTCGTTGCCTAGGCTGGTGTTCAACTGGCCTCAAACAATCCTCCTTCAATCTCTCAAAGTGTTGAGATTACAGGCATAAGCCACCACACCTGGCTTGTTTGGCTTTTATTTTTTAATTTTTTTGTGGTGCAACAGTTCTAAATATCACATGGCAGTTTTATATTCTGCAAGTAAGAGGTAACTTTTATTTTCCTTGTAATTCTCATCTGATGATTTGAATTGCTAGTCTTATACGGGTTTACCTTTAGATGTTCAGAATAAGTTGTGTGAGCATGATATGTTTGTATTTGTGGTATCATACCTTATCATGCCTTGTTTGGCTACATAGCATTACTTCCACTGCTTTCTTTGAGGAGTGATCAACAGTAGGCCATCTTCTGTGGGACAGCCCCTTACCTGCTAAGAAGTATAACTTTCTTTCAGATGTTGGAATTTTTGTGTTAAATCTTGATATTACTAATAACACTTTTCTCACCTTGAATAAAGAAGGGAACAGAGATGAGTACTAACATTCGGTAATACTTTCTCTGCAGAAACAAATCATTGTGGACCCCTTGAGCTTCAGCGAGGAGCGCTTTAGGCCTTCCCTGGAGGAGCGTCTGGAAAGCATCATTAGTGGGGCTGCCTCGATGGCCGACTCGTCCTGCACGCGTGATGACCGTCGTGAGCGAATTGTGGCAGAGTGTAATGCTGTCCGCCAGGCCCTGCAGGACCTGCTTTCGGAGTACATGGGCAATGTGAGTTTGACAGCTTTTCTTTGAAGTAAGATATTTATGGATGAGGAGTTTTCTATAACATGTTGGATCTGAGATGTTTTCACTATAAATACCAAATATGTCCTTGACTCCTTGATTTTTGGGAGTAGGTCAGATTTTTAAAGAAATGGATAAATGGCTAAGTGGCTCTTTCCTCTCTCCAGCTTATTGAGAAATTTTCAACTTATAAAAATCATACAGTGAATACCTAGGAAATTTATCTGTATTCATCAATTAACATGTAGATACATGTGTAGGTGTGTGTATATATAAATGTATATGTATGTATGGTATATACACAAACATCCTTTTTTCCCCCGAAGCCTTTGGAAGAAAGTTGTAGACATTGTGATGCTTCACCTCTAATATTTTAGCATGCCTCTCCAAAGAATAATGACCTTCTATACCACTAAAGTTTCATTATCCCAAGTAGGTGGCTAATTTTGGGCAAAAGGGAATGTTGAAAACCTGCCTCCTCAATATTTATAGTTGTGAAAGTTTTTTCGTGAACCATATTGAATGTCACAAGAGTAGATAATTGCCAAGTAGAGTTACATAAAGCAAACTCTGGATAGTGTTTTTGAATTTTGAAGGTTTGTGCATAAAAACCCAGGCTATGAAATTTGATACCCACTTTTTTTTTAAAAGGCCATAGAAAATTCTATATTTGTTGATTTTTCTCTGTTGCCATATGTCTTTCTTTTTTTCCTTCGCTTATACTTCTTCTATTCTGGTTATTTAATGCTAGCTTAGGGTTCCTGTCATTTAGACCTTGGACCCAATATTTTACTGTAGCTAATTAGCAATAAATTAAGTAAAAATTATATGAAATCATTTTAAGGGGAAGAAGGACAACAACACAAATTAGTTGTCATCACTAGCGTTTTTTACCTGTTTAACACCTAAAAAAAAGATCTTGGTTCTTTCTCATTTGTTCGTTTGCCATACATCTTGTCTGTTCACTTACAGGCCTGTAAAAGTTAATGGGTGATGGTAAATCATGGTGGAATTCCTAGGGTGAAGATGAATGCCTTCCTCTGTTTATCTTGTCTCTACCATACTGTGAAATTAGTGATGCATATTGAATTTTTTTAAAGCCATTGCCCCCTGGGCATGATGGTTCAAGCCTGTAGTCCCAGCGTTTTGGGAGGCTGAGGTGGGTGGATTGCGTGAGCCCAAGAGTTTGAGACCATCTTGGGCAACATGGTGAAATCCCATCTCTACAAAAAATACAAAAGTTAACTGGGCATGGTGGCGCACGCCTGGTCTCAGCTACTCGGGAGGCTGAGGCGGAAGAATCGCTTAAGCCTGGGAGGTTGTGGCTACAGTGAACCATGGTCGCGCCACTGTGCTCCAGCCTGGGCGACAGAGCGAGAGTGTCTCAAAAAAAAAAGCCATGTTTTGATTATAGGCAGTCTACTTAAGAAAAATGAGATTAGAGGTTTTGTTAAATCAAATGGAAAAAGTGGTTTTTAAGTCACAGTGAAAATGTGGGACACATTTAAAAATCCATAGCTAAGATTGAACATTAGAAAATATTTTAAAAGATGGATATGTTGCAGAATGGCTCACAATGTTGCAGTCTTAAACAGGGGAACAAAAACTCATGGTAAGTGGATCAGTCATCTGCTATCATGGGTAGTGCTGGAAATGGTGTAAAAGTGTCTTATGTAGTTATGATGAGGAAATCACTTCAAAAACAGACTTTGGTGGGAAGGAGGATGTGATAAATCTGTTCCGATTGCTCCGTTTTAGAGCCTCCTAATCAGTCTATAAGATATCCCTTGAGTCTTGAGGTTGGTCACATTCTTGGGCCAATCACCCCTGGTCATGAGTAACCTTGAGGTTTCGAAACCTAGAGTGCCATACAAACAGTACTGTCTATTCATGCCATCAGTGTAAGAAAAGGTGGGAAGCACT
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Task1_train_9540
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This variant affects gene SIL1 (SIL1 nucleotide exchange factor) located on Chromosome 5. Evaluate its biological effect and specify any disease association.
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Pathogenic; Marinesco-Sjögren syndrome
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TGGGGGCAGAGGGGACACTGGGGACTGCAGTTAGGCCCCTACTAGTGGCACTCCTCCCATAGGGACGCTTTCCACACCCCGGGCCAGACCCTGGTGGTCACAGAGGCCTCCAGGGCCAGCCTGGTCCTGACACAGCCGAGCGCCCGGCCTGGCCTCCCCACAAGGCCCCACACTCTCGCCTGTCCACTGTTCCCACTGTCCAGCCTTGGTGCTCACCTCTGAATGCTGAAAGCCTAGAATAGATTCATCCCCAGCCCAGCCCCAAGTCCTCCTGTCTTCCAAGCCTCTGCTGAGGCAGCCCCTCTCCCCATCAAACCTCACCTTGCCCCTTTCTCAAGTCTACGCTAGATCTTCCAACACTACCTCTAAAGCACCCCTTGACCTTGGCCTCATCCAGGCGCTGGCACCTCCTGTCTGAAACCTGCCTGCCCTGTTGTGGCCACACATGCCCGGCCATTTCTCGTGGTCCTCCCTCCGCTGCCTGTCAGTTCAACATCGTCCCCTTCTTGGCCTCCCATTCAAGCCTCCCACAGCACCATCAGCACCGCAGGCCCACTGCTGCCCCCACAGGCAGATCACTTGGCCTCTCTGAGCCATGATTTCCTCATCTGTAAAATCTACTTCGAAGACTCCTGCGAGGCTGTAAAGGCAGCAGGTACCCAATGGCTGGCAGACTGCGAGTCTGTTCCCCACTCTGCCCTAGCCCTGAGGCCTCCCGCCCTGGGGAAGCTGTTACTCCAGCATCAGCCTGGACTCCTGCCTCCAGCCTGCCCTGCTGGGAGGGGCTCCGTGCAGGCCGTGGCTCTGCTCCGAGCTTCCTGCGTGTCGTGTTGCGGCAAGAGGCGAGCAGGAGAGGGGCTGAGGAGAAGAGCCAGGTGGCCAAGCAAAGGGACTGCAGGGAAGGCCAACTACTGACCCCATGTTTTTCTGGGCCTCAATTTGCCCTCAGCTCAGTAAAACTGAGATTTCTACAAGTGAGGCCTAGAGCCAGGGAGAGGAGAGTCCTGCCCCAGACTGGCCCTCCCGACTTTACCACCTGGGGGCCGGAGGGGCTGCCTGGGCCCGCAAGAGCAAGCCTCTGGTGCACTGGGAAAGCTGAGAAACAAACACACCAGAATCCGAGTCTGAAAAGCCCAGAGCCCGGGTTGCCATGGCAACCTGCAGCCAGCTCCAGCCCGGGACTCCGCCAGCCTGGGTAGGGGCCGGGACTCGCCAGGCACGGCTGCTCCCAGCTCTGAGGCCTCCTCCTTGGGCTTGGCCCTGTTTCTGCTTGGACACAGAAGTGGTGCAAGGCCACAGAGAGGCACTTCTCCCCTGTCAGGTGGGCCAGGCAGGCCTGGGCTCCCCTGGGCTCCCACTGCCAGCTTTCTCCCAGAGTAAGGCCTGGCCCCTGGGCCTCCAGAGTCCAGCACCTCTCAGCACCCCACCCCGGCACCCATTGCTCCAGCACCCATCACTCCAGCAGCTGTCAAGCCCATCAGCTGCCTGGGTCACCACAGCACCAGTGTATGGACAGGCCTCAGGCGCCGGCCAGGTCAGCGGCCTTGAGGCTGTTATGTGGGCACCGATAGAGGGGCAGTGAGATGATTCCCTGCCTTACCTCACAGCTGGGGGGTGCCAGCACTAGTGTGAAGCTTTCTACGTGATTTTTCTCCTTTAATGGCACTCCTGACAGATGAGGAAACAAGCTCAGAGCAATTAAGCGACTTCCCAAGGTACAGAGCTGCTGCTTGGTAAGAAGCAGAGACTTGCAACTCCTGGGCCCAGGTTCCTGCCCTGGAGCCTGTTCCTGGATGCCCTGGGCTGAGCCCTGCACGTCAGCAGAGCCCATCACCCAACCACTCACCTGACCCCCCGGCCACAGGGCTGTGCCCAGTCTACACAGACACACAGCAGAAAGAGGATGGCCTTCAGGTTTCCATTTAATGGCCAAGCCAGCACTGCCAAGATGTCCTCCTGCCTGAGAAGCCCACCCACGCTGGCACCCCTCAGCCTCACTAGCGGCATCCCAGTCCAGTCCTGGTGTGGGGCCTCATCTCAGCTCCTTCAGCAAGCTGTTGACAGAGCCCAGCAGCTCCTGGAAGTAGCCCTCGTCCTCACCATCCTGCAGCTCCAGGCTGGCCAGCACCTGGTACTCAGCCTGCAGGCTGGCCAGTGTCCTGCCGAGCTGGGGGTCCTGACGGTAGCGGTCCCGGCAGGTGGTCAGGAGGACGCCCAGTGTCTGCAGCACCTTCTCACGGGCATCATGCTCGGGCAGCGCCAGGAGGTGGGCCGTGATCTCGCACCAGCCCTGTTCCCACAGGCCTGGCAGGAGGTGTACCTGGCGATACTGCTGCAGCTTCTCTGGGGACATCTCCTGGGTCAGCTCAGCCTCCTCCTCGGCGAACATCTGCCATCCGCCACAGCCGCAGGCCAGGTAGGGTGGGGGTGGGGAGAGAACACACAGGGAGCAGTTAGCTCACACCTGGCTAGCTCTGCCCTTCAGACAGGAAGGCACGAGGCTGACCCCTGAGGGCCCACCTCTTCCTCTATCCCCAAGTCTGTCTGTCTATTCATTCATTCATCCACCAACAGAAACACTTGTGTGGTGCCAGGTGCTGAAGAAACCACGATGGAGACATAGTCTTACCCTCAAGGAGCTTAAGGTCTAGCAGGAGAATAAAAATTAACTAATTCCCAAATAGCATAAATGTAATCTAACAGTGCAGCATGGAGGCAGACAGGCTGGCTTCAAATTCCTGCTCCACCACTGACTTGCTGAATGACCATGGCTGGCACTTAGCCTCCCTGAGACTCATCGTCATCACCTCCTAAGTGGAGAAACTCAGCCTGTCTGTAAAGCGCAGAAGCCCAGCTCTATCAGCAGAACATGGTGGGAGCCAATCCTGCCGGGCTACCAGCAGCGGGAAAGCCAACACCTGAACCATGACAAGCAGGCAGGTTACCTGAAGGTCAGAGGTAGAGGGTTGGGAGGGGGCAGAGATCTCCCGTGCAGCTGTAGGAAGTGTGCCTGTATGGAGAAAGAAGGAATGCCTGCCCTAACTCCAGGGGAGAATGAAGCACAGGGAAGATGCACAAGGCAAGAGGGAAGCCCAGGAGAAGAGGAGGCCACAGTGGACCACCTGTGCTTCCTGCGGCAGCAGGAAGTCGTGGGGCTGATTGGGGCTGGCAGAGGAAACTGAGGAGGGGTGCAATCCTGCATCCTGGGACAGGAGAGGCTGAGAGGTATCCCCTAGTCCTTTCCTACTTCACCCCTCAGTCCTGCCAGCTTCGCTTCCAAAACACACCCCAATTCTGTCAGCTCCACCTTTGTCCCTTGTGTCCTGCGATCCAGTGCCTCCTGCTCTCACCCTCTCCTCCAGCCCCCAAACCCTCACAGCCTGGCATTGCGGGTGATAAAGACAAAATCAATCCCTTCCCTGGGACTGCGAGGCTCTGCAGGCTCTGCCCCCACTGTGCGCGGCCTGGACCCACTCACACCCACTCCTGTCACTCTAACTCTCCCCTGGGGCCTCTGGAGGCGCAGCTCCGACTTCCAGGTGCACCCCCGCATTGGCCCCATTCACTCCACGGCTCCCTGCACACCTCACCGCCACTGACCGGCCTCCCCTGACTGGCCTTCTCTGCTTATATGCTGCTGTGGTTTGAGTGTGTTCCCTAAAAGTTCAAGTGTTGGAAGCTTAATTCCCAAGGCAGCAGTATTGAGAGGAGCTGCCTAGGTCAGGAGGGCAGCGGGTTCCTTACGGGAGAGCGGTTGTTATTCTAGAGAGCAAGCCCGGCCCAGCATGCTTTTTTCCGCAAGTGCTCTTGCCCTCTCACCTTCCACAATGTTGTCATGCAACACAAAGGCTCCCGCCAGATGCACCCACCCAATCGTGGATTTCCCAGCCTCCCGAATCATGAGCCAAAAACTGCCTTTTCTTTATATTATCCAGTCCCGGGTATTCTGTTAAAGCAGCAGCAGACAGACTACAACACAAGCTCAGGGGAATTCTCTGATAAACATCTGCCTGAAAGCTCAGGGACGACAGGGACTGCGGATTATTTTCCCAGCACCCGGCACAGCAGGCAGCACAGGCAGGCAGGGTCCCCCTGC
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TGGGGGCAGAGGGGACACTGGGGACTGCAGTTAGGCCCCTACTAGTGGCACTCCTCCCATAGGGACGCTTTCCACACCCCGGGCCAGACCCTGGTGGTCACAGAGGCCTCCAGGGCCAGCCTGGTCCTGACACAGCCGAGCGCCCGGCCTGGCCTCCCCACAAGGCCCCACACTCTCGCCTGTCCACTGTTCCCACTGTCCAGCCTTGGTGCTCACCTCTGAATGCTGAAAGCCTAGAATAGATTCATCCCCAGCCCAGCCCCAAGTCCTCCTGTCTTCCAAGCCTCTGCTGAGGCAGCCCCTCTCCCCATCAAACCTCACCTTGCCCCTTTCTCAAGTCTACGCTAGATCTTCCAACACTACCTCTAAAGCACCCCTTGACCTTGGCCTCATCCAGGCGCTGGCACCTCCTGTCTGAAACCTGCCTGCCCTGTTGTGGCCACACATGCCCGGCCATTTCTCGTGGTCCTCCCTCCGCTGCCTGTCAGTTCAACATCGTCCCCTTCTTGGCCTCCCATTCAAGCCTCCCACAGCACCATCAGCACCGCAGGCCCACTGCTGCCCCCACAGGCAGATCACTTGGCCTCTCTGAGCCATGATTTCCTCATCTGTAAAATCTACTTCGAAGACTCCTGCGAGGCTGTAAAGGCAGCAGGTACCCAATGGCTGGCAGACTGCGAGTCTGTTCCCCACTCTGCCCTAGCCCTGAGGCCTCCCGCCCTGGGGAAGCTGTTACTCCAGCATCAGCCTGGACTCCTGCCTCCAGCCTGCCCTGCTGGGAGGGGCTCCGTGCAGGCCGTGGCTCTGCTCCGAGCTTCCTGCGTGTCGTGTTGCGGCAAGAGGCGAGCAGGAGAGGGGCTGAGGAGAAGAGCCAGGTGGCCAAGCAAAGGGACTGCAGGGAAGGCCAACTACTGACCCCATGTTTTTCTGGGCCTCAATTTGCCCTCAGCTCAGTAAAACTGAGATTTCTACAAGTGAGGCCTAGAGCCAGGGAGAGGAGAGTCCTGCCCCAGACTGGCCCTCCCGACTTTACCACCTGGGGGCCGGAGGGGCTGCCTGGGCCCGCAAGAGCAAGCCTCTGGTGCACTGGGAAAGCTGAGAAACAAACACACCAGAATCCGAGTCTGAAAAGCCCAGAGCCCGGGTTGCCATGGCAACCTGCAGCCAGCTCCAGCCCGGGACTCCGCCAGCCTGGGTAGGGGCCGGGACTCGCCAGGCACGGCTGCTCCCAGCTCTGAGGCCTCCTCCTTGGGCTTGGCCCTGTTTCTGCTTGGACACAGAAGTGGTGCAAGGCCACAGAGAGGCACTTCTCCCCTGTCAGGTGGGCCAGGCAGGCCTGGGCTCCCCTGGGCTCCCACTGCCAGCTTTCTCCCAGAGTAAGGCCTGGCCCCTGGGCCTCCAGAGTCCAGCACCTCTCAGCACCCCACCCCGGCACCCATTGCTCCAGCACCCATCACTCCAGCAGCTGTCAAGCCCATCAGCTGCCTGGGTCACCACAGCACCAGTGTATGGACAGGCCTCAGGCGCCGGCCAGGTCAGCGGCCTTGAGGCTGTTATGTGGGCACCGATAGAGGGGCAGTGAGATGATTCCCTGCCTTACCTCACAGCTGGGGGGTGCCAGCACTAGTGTGAAGCTTTCTACGTGATTTTTCTCCTTTAATGGCACTCCTGACAGATGAGGAAACAAGCTCAGAGCAATTAAGCGACTTCCCAAGGTACAGAGCTGCTGCTTGGTAAGAAGCAGAGACTTGCAACTCCTGGGCCCAGGTTCCTGCCCTGGAGCCTGTTCCTGGATGCCCTGGGCTGAGCCCTGCACGTCAGCAGAGCCCATCACCCAACCACTCACCTGACCCCCCGGCCACAGGGCTGTGCCCAGTCTACACAGACACACAGCAGAAAGAGGATGGCCTTCAGGTTTCCATTTAATGGCCAAGCCAGCACTGCCAAGATGTCCTCCTGCCTGAGAAGCCCACCCACGCTGGCACCCCTCAGCCTCACTAGCGGCATCCCAGTCCAGTCCTGGTGTGGGGCCTCATCTCAGCTCCTTCGGCAAGCTGTTGACAGAGCCCAGCAGCTCCTGGAAGTAGCCCTCGTCCTCACCATCCTGCAGCTCCAGGCTGGCCAGCACCTGGTACTCAGCCTGCAGGCTGGCCAGTGTCCTGCCGAGCTGGGGGTCCTGACGGTAGCGGTCCCGGCAGGTGGTCAGGAGGACGCCCAGTGTCTGCAGCACCTTCTCACGGGCATCATGCTCGGGCAGCGCCAGGAGGTGGGCCGTGATCTCGCACCAGCCCTGTTCCCACAGGCCTGGCAGGAGGTGTACCTGGCGATACTGCTGCAGCTTCTCTGGGGACATCTCCTGGGTCAGCTCAGCCTCCTCCTCGGCGAACATCTGCCATCCGCCACAGCCGCAGGCCAGGTAGGGTGGGGGTGGGGAGAGAACACACAGGGAGCAGTTAGCTCACACCTGGCTAGCTCTGCCCTTCAGACAGGAAGGCACGAGGCTGACCCCTGAGGGCCCACCTCTTCCTCTATCCCCAAGTCTGTCTGTCTATTCATTCATTCATCCACCAACAGAAACACTTGTGTGGTGCCAGGTGCTGAAGAAACCACGATGGAGACATAGTCTTACCCTCAAGGAGCTTAAGGTCTAGCAGGAGAATAAAAATTAACTAATTCCCAAATAGCATAAATGTAATCTAACAGTGCAGCATGGAGGCAGACAGGCTGGCTTCAAATTCCTGCTCCACCACTGACTTGCTGAATGACCATGGCTGGCACTTAGCCTCCCTGAGACTCATCGTCATCACCTCCTAAGTGGAGAAACTCAGCCTGTCTGTAAAGCGCAGAAGCCCAGCTCTATCAGCAGAACATGGTGGGAGCCAATCCTGCCGGGCTACCAGCAGCGGGAAAGCCAACACCTGAACCATGACAAGCAGGCAGGTTACCTGAAGGTCAGAGGTAGAGGGTTGGGAGGGGGCAGAGATCTCCCGTGCAGCTGTAGGAAGTGTGCCTGTATGGAGAAAGAAGGAATGCCTGCCCTAACTCCAGGGGAGAATGAAGCACAGGGAAGATGCACAAGGCAAGAGGGAAGCCCAGGAGAAGAGGAGGCCACAGTGGACCACCTGTGCTTCCTGCGGCAGCAGGAAGTCGTGGGGCTGATTGGGGCTGGCAGAGGAAACTGAGGAGGGGTGCAATCCTGCATCCTGGGACAGGAGAGGCTGAGAGGTATCCCCTAGTCCTTTCCTACTTCACCCCTCAGTCCTGCCAGCTTCGCTTCCAAAACACACCCCAATTCTGTCAGCTCCACCTTTGTCCCTTGTGTCCTGCGATCCAGTGCCTCCTGCTCTCACCCTCTCCTCCAGCCCCCAAACCCTCACAGCCTGGCATTGCGGGTGATAAAGACAAAATCAATCCCTTCCCTGGGACTGCGAGGCTCTGCAGGCTCTGCCCCCACTGTGCGCGGCCTGGACCCACTCACACCCACTCCTGTCACTCTAACTCTCCCCTGGGGCCTCTGGAGGCGCAGCTCCGACTTCCAGGTGCACCCCCGCATTGGCCCCATTCACTCCACGGCTCCCTGCACACCTCACCGCCACTGACCGGCCTCCCCTGACTGGCCTTCTCTGCTTATATGCTGCTGTGGTTTGAGTGTGTTCCCTAAAAGTTCAAGTGTTGGAAGCTTAATTCCCAAGGCAGCAGTATTGAGAGGAGCTGCCTAGGTCAGGAGGGCAGCGGGTTCCTTACGGGAGAGCGGTTGTTATTCTAGAGAGCAAGCCCGGCCCAGCATGCTTTTTTCCGCAAGTGCTCTTGCCCTCTCACCTTCCACAATGTTGTCATGCAACACAAAGGCTCCCGCCAGATGCACCCACCCAATCGTGGATTTCCCAGCCTCCCGAATCATGAGCCAAAAACTGCCTTTTCTTTATATTATCCAGTCCCGGGTATTCTGTTAAAGCAGCAGCAGACAGACTACAACACAAGCTCAGGGGAATTCTCTGATAAACATCTGCCTGAAAGCTCAGGGACGACAGGGACTGCGGATTATTTTCCCAGCACCCGGCACAGCAGGCAGCACAGGCAGGCAGGGTCCCCCTGC
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Task1_train_9541
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The gene MATR3 (matrin 3) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Amyotrophic lateral sclerosis type 21
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CAAAGAAACTTTCATCTGAAGAAGTCCACTTATTCTCGTCTTTATTAATCTTAAAGCTTAAGTAGTTTACATAGTGGATCTTGTCTAGAACTATTAATAGTTTCTTTGGTGTATTTTCTCAAATTCATCTTTCTTGGTGTGCAAAAACATCTTCCTGTAACTCCAGCCACCTCTTATAGCATTTCTGTGTCTTTTAAAACTTGATTATATCTATTTTTTAAAATCCAGTCTAAATCTTTCTTGCCTGCAACTTTTTTTATACTTCCTTTGCCACTGTATTTGTCCATTGTATCCTTGCTTTAATCTATCATTGGTGAAATTGATCCTGTAATAGACTTGTAACTACTGGATATTGTCTGGTTTTACTGTTAAAGTTTCACATATTAAGCTACCAGTGCTGAGTGTATTGGTGATCAAAAAATAGAAAATTTAAGCAATGCCTCATAGAATTCTGTACCAAACAACTTCAGATTTACCTCTGTATGTAGTTGTGATTATAAAATTGTTTCACTGAAGATGTTATGTATATCTTTCAACTAATATTTTATGACAATCGTGATATAAAAGATTTGGAAATTCTTATGTGACAGTTTCTGAGGTACAACAATAATGATTTAAGAAAGAAAACAATTTCATCTAGAAACACGTCTTGGGGGATCATAATCAGAACATAAATTTACCAGGTGATTTGGGCTATTCTTGTGAAAAGTTTACAGGAAACTGTGTAACCAAGATCTCATTTTCATTTTTACCTGTTTTGTGCTCTAGATGTGCTGTAGCCCTGAGCATTAAATGAGTACTGATGGATGCTGATTTGGGGAGTTCCCTTCTTTAAATCACCTGTATTTCCTGTACCTAGGTTTTTTCTTGGGAGGGCTCCTATTCCTGTACTGACCAGAGTTAGTTCTCCTTACTTTAAAAGACTAGATATGAAGTAAACACTGCCTGATGTAGGATGGTCAGTAAGAAGGCAATTAGTTGTATAACTTAAATTTGGGCAGCAATCCTTAAAACTATAGGAAATGACTTATTTTTCTTATTCACATCTATCTTCACCTCAAATTGATTTTGCTGTATAAAGGTCTCAGCTATTATGTTTGGTCTTATATCTTACATTAGGTACTTGAAACCTAAGCTTCATTTACTTGTGATTTTACTTGGTTCTTTCTGATAGTGATAATAGGTCTCATTTTCCAAAGCACAGTACAACTGATTCATCTTTGACTTGCTGACCTTGATTTTTTTGTTTTTAGTCTTCTGGAACTTAAGCATCATACTATAGGGTGTATTTTTATTCTTCTAAAAGAAGAAACCCATCTATATTTTTACTGAAATTTTGATGTACTCAGACATCTAACCTTTCAATTTACATGTTTTTAAACTCAGTATGAAAGTCCCTTTAATAGTTAAGCTTTAGCATGAAATACTACTTTTTAAATATCTATATGCAGGCTCTGCATACATCAGGAATCTGTTTAAGATATGTAATAAATTCCTTGTAAGTTTGAGATCTTAAATGTTTTTTTTTTAAATCAACATGATGCATAAGTTTTTTTTTCTTAAAAAAACGGCATCTGCTTAAAGGGATTTATGACTAAAATTGCTTATTTTTCTACAGAGTTGTCTGCTGGTTCTCAGCTTGAAGAAGATTCTGCAGTCCTTATTGATCCTTTTTCTTGGCGTTACCATTTTTGAAGCAAAGTTAACCTAGCTTTCTAGTTTGAGCTTTCTTTTTGGCCGTCTTTAAAAAAATTTTTTTTTTTAATCTATAAAATAGACAAGAGCTAGTTCTACAATGTCCAAGTCATTCCAGCAGTCATCTCTCAGTAGGGACTCACAGGGTCATGGGCGTGACCTGTCTGCGGCAGGAATAGGCCTTCTTGCTGCTGCTACCCAGTCTTTAAGTATGCCAGCATCTCTTGGAAGGATGAACCAGGGTACTGCACGCCTTGCTAGTTTAATGAATCTTGGAATGAGTTCTTCATTGAATCAACAAGGAGCTCATAGTGCACTGTCTTCTGCTAGTACTTCTTCCCATAATTTGCAGTCTATATTTAACATTGGAAGTAGAGGTCCACTCCCTTTATCTTCTCAACACCGTGGAGATGCAGACCAGGCCAGTAACATTTTGGCCAGCTTTGGTCTGTCTGCTAGAGACTTAGATGAACTGAGTCGTTATCCAGAGGACAAGATTACTCCTGAGAATTTGCCCCAAATCCTTCTACAGCTTAAAAGGAGGAGAACTGAAGAAGGCCCTACCTTGAGTTATGGTAGAGATGGCAGATCTGCTACACGGGAGCCACCATACAGAGTACCTAGGGATGATTGGGAAGAAAAAAGGCACTTTAGAAGAGATAGTTTTGATGATCGTGGTCCTAGTCTCAACCCAGTGCTTGATTATGACCATGGAAGTCGTTCTCAAGAATCTGGTTATTATGACAGAATGGATTATGAAGATGACAGATTAAGAGATGGAGAAAGGTGTAGGGATGATTCTTTTTTTGGTGAGACCTCGCATAACTATCATAAATTTGACAGTGAGTATGAGAGAATGGGACGTGGTCCTGGCCCCTTACAAGAGAGATCTCTCTTTGAGAAAAAGAGAGGCGCTCCTCCAAGTAGCAATATTGAAGACTTCCATGGACTCTTACCGAAGGGTTATCCCCATCTGTGCTCTATATGTGATTTGCCAGTTCATTCTAATAAGGTGAGTTAACTCAACAGATGCTTCTAATTTCTTTTACATTGTAGTGCCTATTTACCTATATCTTTGACTCTAATTCTGTAGTCTGATGACATTGAGTTGATCAAGCATTTTTAAACTTTTGAGAACACTTACTTTATTTGGAAGGTAATTGTTTTTGAGCATTTTAAACCAGGGCTTTACATTAATATATTCTGCCTAGATTACTTCTGGCCACAAAGCTATCATCCACTGAGATTATCTTGTTGGTTTTTGGCATCAATATGTTCTTCTTAATCATATATTTAAGCAGGTTTTTTTTGTCTGCTTTGTTGAATTGTTTTAAGTATTTTTTTTGCAGTCAATGTGCTCTGCCATTCAGGATGCTAGATTTCAGCTCTCCATCTGTCTTGATTGCTGATTTGTATGTAGTAAAGATGTATTCTTGAACAATTCTCTTTTTTTCCTTATCTGTGGCTACAGGGAAAGAGTTAATGTAGAGCCCTGGTGTTTGTTTCAGTATGTTTCATATTTTAGATTAGTTCATTCTTCCTTTTTTAATTTCCCTTTAACACAAACTCTCATACTATGACTGAAATTTTTCATCATTTTTTTTCTCCTTTTCCACAACTTTCTTAAACATACTTCAAAACTCACTTTTTATTATCCCATGTTACATCTGTCCCTTTAGAGACTTGGACAAATCAACTACTACAGTATCCTGCTCTGTGTTCCTCATAAACAAATTCTTTTTCTGAGTTAGGCTTAGACTTCTGAAATAGTCATTTGAAAAGAAAATCTAATTCTCCTTTGCTTTAATTATCACATCTGGCAAAATGGGAACTTTTTCAAAATGCCCTTTTAAATATGTTGTCCTTTCTCTTTCAACTTTTTCAGTGTTACTCATTCTGACTTTTTTTCCCCCAATATATGGTGCAGTTGACTTAAAGTCATTGTTATAGCACCCCACTAGCTTGATCTATAATCTGTGACCGTCCATTTTTTCCTGATGTGCTCTACTTAACTGGAACAAGTTGCTGCCATGAAATTGATTTGATGGTTACTGTTACAGGGTTTTTCTTTACAGTAACATCTGGAAGGGTCATTTTCTTTTCATAGCTAATCCTTTGATAAGCATTTTTTAGTAAATGAGTATGGATTTTTTTTTAGTAGACTAAATCATACCATTGTTTTTAATATTCTGTTAAAGAGTATTACCAGTCACTCCCTTTCCTTGTGTTTGGATCTCAGTATTTTTGTCTTTTAATCTTTAATCTGTACCAAAGTAAATTAACATAAATGCTAAATTTAGGTTTATTTAAACATTTAAGAAGATGTATTTTCATTAAGAAATACAACCCCAGACTCACAAAAGCCAGCAAATTTTAATTGGTATATGTTTTGGGTGTTACC
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CAAAGAAACTTTCATCTGAAGAAGTCCACTTATTCTCGTCTTTATTAATCTTAAAGCTTAAGTAGTTTACATAGTGGATCTTGTCTAGAACTATTAATAGTTTCTTTGGTGTATTTTCTCAAATTCATCTTTCTTGGTGTGCAAAAACATCTTCCTGTAACTCCAGCCACCTCTTATAGCATTTCTGTGTCTTTTAAAACTTGATTATATCTATTTTTTAAAATCCAGTCTAAATCTTTCTTGCCTGCAACTTTTTTTATACTTCCTTTGCCACTGTATTTGTCCATTGTATCCTTGCTTTAATCTATCATTGGTGAAATTGATCCTGTAATAGACTTGTAACTACTGGATATTGTCTGGTTTTACTGTTAAAGTTTCACATATTAAGCTACCAGTGCTGAGTGTATTGGTGATCAAAAAATAGAAAATTTAAGCAATGCCTCATAGAATTCTGTACCAAACAACTTCAGATTTACCTCTGTATGTAGTTGTGATTATAAAATTGTTTCACTGAAGATGTTATGTATATCTTTCAACTAATATTTTATGACAATCGTGATATAAAAGATTTGGAAATTCTTATGTGACAGTTTCTGAGGTACAACAATAATGATTTAAGAAAGAAAACAATTTCATCTAGAAACACGTCTTGGGGGATCATAATCAGAACATAAATTTACCAGGTGATTTGGGCTATTCTTGTGAAAAGTTTACAGGAAACTGTGTAACCAAGATCTCATTTTCATTTTTACCTGTTTTGTGCTCTAGATGTGCTGTAGCCCTGAGCATTAAATGAGTACTGATGGATGCTGATTTGGGGAGTTCCCTTCTTTAAATCACCTGTATTTCCTGTACCTAGGTTTTTTCTTGGGAGGGCTCCTATTCCTGTACTGACCAGAGTTAGTTCTCCTTACTTTAAAAGACTAGATATGAAGTAAACACTGCCTGATGTAGGATGGTCAGTAAGAAGGCAATTAGTTGTATAACTTAAATTTGGGCAGCAATCCTTAAAACTATAGGAAATGACTTATTTTTCTTATTCACATCTATCTTCACCTCAAATTGATTTTGCTGTATAAAGGTCTCAGCTATTATGTTTGGTCTTATATCTTACATTAGGTACTTGAAACCTAAGCTTCATTTACTTGTGATTTTACTTGGTTCTTTCTGATAGTGATAATAGGTCTCATTTTCCAAAGCACAGTACAACTGATTCATCTTTGACTTGCTGACCTTGATTTTTTTGTTTTTAGTCTTCTGGAACTTAAGCATCATACTATAGGGTGTATTTTTATTCTTCTAAAAGAAGAAACCCATCTATATTTTTACTGAAATTTTGATGTACTCAGACATCTAACCTTTCAATTTACATGTTTTTAAACTCAGTATGAAAGTCCCTTTAATAGTTAAGCTTTAGCATGAAATACTACTTTTTAAATATCTATATGCAGGCTCTGCATACATCAGGAATCTGTTTAAGATATGTAATAAATTCCTTGTAAGTTTGAGATCTTAAATGTTTTTTTTTTAAATCAACATGATGCATAAGTTTTTTTTTCTTAAAAAAACGGCATCTGCTTAAAGGGATTTATGACTAAAATTGCTTATTTTTCTACAGAGTTGTCTGCTGGTTCTCAGCTTGAAGAAGATTCTGCAGTCCTTATTGATCCTTTTTCTTGGCGTTACCATTTTTGAAGCAAAGTTAACCTAGCTTTCTAGTTTGAGCTTTCTTTTTGGCCGTCTTTAAAAAAATTTTTTTTTTTAATCTATAAAATAGACAAGAGCTAGTTCTACAATGTCCAAGTCATTCCAGCAGTCATCTCTCAGTAGGGACTCACAGGGTCATGGGCGTGACCTGTCTGCGGCAGGAATAGGCCTTCTTGCTGCTGCTACCCAGTCTTTAAGTATGCCAGCATCTCTTGGAAGGATGAACCAGGGTACTGCACGCCTTGCTAGTTTAATGAATCTTGGAATGAGTTCTTCATTGAATCAACAAGGAGCTCATAGTGCACTGTCTTCTGCTAGTACTTCTTCCCATAATTTGCAGTGTATATTTAACATTGGAAGTAGAGGTCCACTCCCTTTATCTTCTCAACACCGTGGAGATGCAGACCAGGCCAGTAACATTTTGGCCAGCTTTGGTCTGTCTGCTAGAGACTTAGATGAACTGAGTCGTTATCCAGAGGACAAGATTACTCCTGAGAATTTGCCCCAAATCCTTCTACAGCTTAAAAGGAGGAGAACTGAAGAAGGCCCTACCTTGAGTTATGGTAGAGATGGCAGATCTGCTACACGGGAGCCACCATACAGAGTACCTAGGGATGATTGGGAAGAAAAAAGGCACTTTAGAAGAGATAGTTTTGATGATCGTGGTCCTAGTCTCAACCCAGTGCTTGATTATGACCATGGAAGTCGTTCTCAAGAATCTGGTTATTATGACAGAATGGATTATGAAGATGACAGATTAAGAGATGGAGAAAGGTGTAGGGATGATTCTTTTTTTGGTGAGACCTCGCATAACTATCATAAATTTGACAGTGAGTATGAGAGAATGGGACGTGGTCCTGGCCCCTTACAAGAGAGATCTCTCTTTGAGAAAAAGAGAGGCGCTCCTCCAAGTAGCAATATTGAAGACTTCCATGGACTCTTACCGAAGGGTTATCCCCATCTGTGCTCTATATGTGATTTGCCAGTTCATTCTAATAAGGTGAGTTAACTCAACAGATGCTTCTAATTTCTTTTACATTGTAGTGCCTATTTACCTATATCTTTGACTCTAATTCTGTAGTCTGATGACATTGAGTTGATCAAGCATTTTTAAACTTTTGAGAACACTTACTTTATTTGGAAGGTAATTGTTTTTGAGCATTTTAAACCAGGGCTTTACATTAATATATTCTGCCTAGATTACTTCTGGCCACAAAGCTATCATCCACTGAGATTATCTTGTTGGTTTTTGGCATCAATATGTTCTTCTTAATCATATATTTAAGCAGGTTTTTTTTGTCTGCTTTGTTGAATTGTTTTAAGTATTTTTTTTGCAGTCAATGTGCTCTGCCATTCAGGATGCTAGATTTCAGCTCTCCATCTGTCTTGATTGCTGATTTGTATGTAGTAAAGATGTATTCTTGAACAATTCTCTTTTTTTCCTTATCTGTGGCTACAGGGAAAGAGTTAATGTAGAGCCCTGGTGTTTGTTTCAGTATGTTTCATATTTTAGATTAGTTCATTCTTCCTTTTTTAATTTCCCTTTAACACAAACTCTCATACTATGACTGAAATTTTTCATCATTTTTTTTCTCCTTTTCCACAACTTTCTTAAACATACTTCAAAACTCACTTTTTATTATCCCATGTTACATCTGTCCCTTTAGAGACTTGGACAAATCAACTACTACAGTATCCTGCTCTGTGTTCCTCATAAACAAATTCTTTTTCTGAGTTAGGCTTAGACTTCTGAAATAGTCATTTGAAAAGAAAATCTAATTCTCCTTTGCTTTAATTATCACATCTGGCAAAATGGGAACTTTTTCAAAATGCCCTTTTAAATATGTTGTCCTTTCTCTTTCAACTTTTTCAGTGTTACTCATTCTGACTTTTTTTCCCCCAATATATGGTGCAGTTGACTTAAAGTCATTGTTATAGCACCCCACTAGCTTGATCTATAATCTGTGACCGTCCATTTTTTCCTGATGTGCTCTACTTAACTGGAACAAGTTGCTGCCATGAAATTGATTTGATGGTTACTGTTACAGGGTTTTTCTTTACAGTAACATCTGGAAGGGTCATTTTCTTTTCATAGCTAATCCTTTGATAAGCATTTTTTAGTAAATGAGTATGGATTTTTTTTTAGTAGACTAAATCATACCATTGTTTTTAATATTCTGTTAAAGAGTATTACCAGTCACTCCCTTTCCTTGTGTTTGGATCTCAGTATTTTTGTCTTTTAATCTTTAATCTGTACCAAAGTAAATTAACATAAATGCTAAATTTAGGTTTATTTAAACATTTAAGAAGATGTATTTTCATTAAGAAATACAACCCCAGACTCACAAAAGCCAGCAAATTTTAATTGGTATATGTTTTGGGTGTTACC
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Task1_train_9542
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A mutation on Chromosome 5 affecting MATR3 (matrin 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Amyotrophic lateral sclerosis type 21
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ATATCTATTTTTTAAAATCCAGTCTAAATCTTTCTTGCCTGCAACTTTTTTTATACTTCCTTTGCCACTGTATTTGTCCATTGTATCCTTGCTTTAATCTATCATTGGTGAAATTGATCCTGTAATAGACTTGTAACTACTGGATATTGTCTGGTTTTACTGTTAAAGTTTCACATATTAAGCTACCAGTGCTGAGTGTATTGGTGATCAAAAAATAGAAAATTTAAGCAATGCCTCATAGAATTCTGTACCAAACAACTTCAGATTTACCTCTGTATGTAGTTGTGATTATAAAATTGTTTCACTGAAGATGTTATGTATATCTTTCAACTAATATTTTATGACAATCGTGATATAAAAGATTTGGAAATTCTTATGTGACAGTTTCTGAGGTACAACAATAATGATTTAAGAAAGAAAACAATTTCATCTAGAAACACGTCTTGGGGGATCATAATCAGAACATAAATTTACCAGGTGATTTGGGCTATTCTTGTGAAAAGTTTACAGGAAACTGTGTAACCAAGATCTCATTTTCATTTTTACCTGTTTTGTGCTCTAGATGTGCTGTAGCCCTGAGCATTAAATGAGTACTGATGGATGCTGATTTGGGGAGTTCCCTTCTTTAAATCACCTGTATTTCCTGTACCTAGGTTTTTTCTTGGGAGGGCTCCTATTCCTGTACTGACCAGAGTTAGTTCTCCTTACTTTAAAAGACTAGATATGAAGTAAACACTGCCTGATGTAGGATGGTCAGTAAGAAGGCAATTAGTTGTATAACTTAAATTTGGGCAGCAATCCTTAAAACTATAGGAAATGACTTATTTTTCTTATTCACATCTATCTTCACCTCAAATTGATTTTGCTGTATAAAGGTCTCAGCTATTATGTTTGGTCTTATATCTTACATTAGGTACTTGAAACCTAAGCTTCATTTACTTGTGATTTTACTTGGTTCTTTCTGATAGTGATAATAGGTCTCATTTTCCAAAGCACAGTACAACTGATTCATCTTTGACTTGCTGACCTTGATTTTTTTGTTTTTAGTCTTCTGGAACTTAAGCATCATACTATAGGGTGTATTTTTATTCTTCTAAAAGAAGAAACCCATCTATATTTTTACTGAAATTTTGATGTACTCAGACATCTAACCTTTCAATTTACATGTTTTTAAACTCAGTATGAAAGTCCCTTTAATAGTTAAGCTTTAGCATGAAATACTACTTTTTAAATATCTATATGCAGGCTCTGCATACATCAGGAATCTGTTTAAGATATGTAATAAATTCCTTGTAAGTTTGAGATCTTAAATGTTTTTTTTTTAAATCAACATGATGCATAAGTTTTTTTTTCTTAAAAAAACGGCATCTGCTTAAAGGGATTTATGACTAAAATTGCTTATTTTTCTACAGAGTTGTCTGCTGGTTCTCAGCTTGAAGAAGATTCTGCAGTCCTTATTGATCCTTTTTCTTGGCGTTACCATTTTTGAAGCAAAGTTAACCTAGCTTTCTAGTTTGAGCTTTCTTTTTGGCCGTCTTTAAAAAAATTTTTTTTTTTAATCTATAAAATAGACAAGAGCTAGTTCTACAATGTCCAAGTCATTCCAGCAGTCATCTCTCAGTAGGGACTCACAGGGTCATGGGCGTGACCTGTCTGCGGCAGGAATAGGCCTTCTTGCTGCTGCTACCCAGTCTTTAAGTATGCCAGCATCTCTTGGAAGGATGAACCAGGGTACTGCACGCCTTGCTAGTTTAATGAATCTTGGAATGAGTTCTTCATTGAATCAACAAGGAGCTCATAGTGCACTGTCTTCTGCTAGTACTTCTTCCCATAATTTGCAGTCTATATTTAACATTGGAAGTAGAGGTCCACTCCCTTTATCTTCTCAACACCGTGGAGATGCAGACCAGGCCAGTAACATTTTGGCCAGCTTTGGTCTGTCTGCTAGAGACTTAGATGAACTGAGTCGTTATCCAGAGGACAAGATTACTCCTGAGAATTTGCCCCAAATCCTTCTACAGCTTAAAAGGAGGAGAACTGAAGAAGGCCCTACCTTGAGTTATGGTAGAGATGGCAGATCTGCTACACGGGAGCCACCATACAGAGTACCTAGGGATGATTGGGAAGAAAAAAGGCACTTTAGAAGAGATAGTTTTGATGATCGTGGTCCTAGTCTCAACCCAGTGCTTGATTATGACCATGGAAGTCGTTCTCAAGAATCTGGTTATTATGACAGAATGGATTATGAAGATGACAGATTAAGAGATGGAGAAAGGTGTAGGGATGATTCTTTTTTTGGTGAGACCTCGCATAACTATCATAAATTTGACAGTGAGTATGAGAGAATGGGACGTGGTCCTGGCCCCTTACAAGAGAGATCTCTCTTTGAGAAAAAGAGAGGCGCTCCTCCAAGTAGCAATATTGAAGACTTCCATGGACTCTTACCGAAGGGTTATCCCCATCTGTGCTCTATATGTGATTTGCCAGTTCATTCTAATAAGGTGAGTTAACTCAACAGATGCTTCTAATTTCTTTTACATTGTAGTGCCTATTTACCTATATCTTTGACTCTAATTCTGTAGTCTGATGACATTGAGTTGATCAAGCATTTTTAAACTTTTGAGAACACTTACTTTATTTGGAAGGTAATTGTTTTTGAGCATTTTAAACCAGGGCTTTACATTAATATATTCTGCCTAGATTACTTCTGGCCACAAAGCTATCATCCACTGAGATTATCTTGTTGGTTTTTGGCATCAATATGTTCTTCTTAATCATATATTTAAGCAGGTTTTTTTTGTCTGCTTTGTTGAATTGTTTTAAGTATTTTTTTTGCAGTCAATGTGCTCTGCCATTCAGGATGCTAGATTTCAGCTCTCCATCTGTCTTGATTGCTGATTTGTATGTAGTAAAGATGTATTCTTGAACAATTCTCTTTTTTTCCTTATCTGTGGCTACAGGGAAAGAGTTAATGTAGAGCCCTGGTGTTTGTTTCAGTATGTTTCATATTTTAGATTAGTTCATTCTTCCTTTTTTAATTTCCCTTTAACACAAACTCTCATACTATGACTGAAATTTTTCATCATTTTTTTTCTCCTTTTCCACAACTTTCTTAAACATACTTCAAAACTCACTTTTTATTATCCCATGTTACATCTGTCCCTTTAGAGACTTGGACAAATCAACTACTACAGTATCCTGCTCTGTGTTCCTCATAAACAAATTCTTTTTCTGAGTTAGGCTTAGACTTCTGAAATAGTCATTTGAAAAGAAAATCTAATTCTCCTTTGCTTTAATTATCACATCTGGCAAAATGGGAACTTTTTCAAAATGCCCTTTTAAATATGTTGTCCTTTCTCTTTCAACTTTTTCAGTGTTACTCATTCTGACTTTTTTTCCCCCAATATATGGTGCAGTTGACTTAAAGTCATTGTTATAGCACCCCACTAGCTTGATCTATAATCTGTGACCGTCCATTTTTTCCTGATGTGCTCTACTTAACTGGAACAAGTTGCTGCCATGAAATTGATTTGATGGTTACTGTTACAGGGTTTTTCTTTACAGTAACATCTGGAAGGGTCATTTTCTTTTCATAGCTAATCCTTTGATAAGCATTTTTTAGTAAATGAGTATGGATTTTTTTTTAGTAGACTAAATCATACCATTGTTTTTAATATTCTGTTAAAGAGTATTACCAGTCACTCCCTTTCCTTGTGTTTGGATCTCAGTATTTTTGTCTTTTAATCTTTAATCTGTACCAAAGTAAATTAACATAAATGCTAAATTTAGGTTTATTTAAACATTTAAGAAGATGTATTTTCATTAAGAAATACAACCCCAGACTCACAAAAGCCAGCAAATTTTAATTGGTATATGTTTTGGGTGTTACCTTTTCCTAAATTTGTTGGCTCTACTAAATATATCATGGAATTCATTTTAGTTTCTGATCAGCACTAAACTTTAAATTTTAGGTCCCGTGTGAATTCATAGAATGAAAAGGTCCATTAAACACTGGTGACTCCAATTTTTTCTGCGTTATTTCTTGCCTGTTTATAAGGAAATAATAGCAGAAATGTCAGTATGACCAATATTCTCA
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ATATCTATTTTTTAAAATCCAGTCTAAATCTTTCTTGCCTGCAACTTTTTTTATACTTCCTTTGCCACTGTATTTGTCCATTGTATCCTTGCTTTAATCTATCATTGGTGAAATTGATCCTGTAATAGACTTGTAACTACTGGATATTGTCTGGTTTTACTGTTAAAGTTTCACATATTAAGCTACCAGTGCTGAGTGTATTGGTGATCAAAAAATAGAAAATTTAAGCAATGCCTCATAGAATTCTGTACCAAACAACTTCAGATTTACCTCTGTATGTAGTTGTGATTATAAAATTGTTTCACTGAAGATGTTATGTATATCTTTCAACTAATATTTTATGACAATCGTGATATAAAAGATTTGGAAATTCTTATGTGACAGTTTCTGAGGTACAACAATAATGATTTAAGAAAGAAAACAATTTCATCTAGAAACACGTCTTGGGGGATCATAATCAGAACATAAATTTACCAGGTGATTTGGGCTATTCTTGTGAAAAGTTTACAGGAAACTGTGTAACCAAGATCTCATTTTCATTTTTACCTGTTTTGTGCTCTAGATGTGCTGTAGCCCTGAGCATTAAATGAGTACTGATGGATGCTGATTTGGGGAGTTCCCTTCTTTAAATCACCTGTATTTCCTGTACCTAGGTTTTTTCTTGGGAGGGCTCCTATTCCTGTACTGACCAGAGTTAGTTCTCCTTACTTTAAAAGACTAGATATGAAGTAAACACTGCCTGATGTAGGATGGTCAGTAAGAAGGCAATTAGTTGTATAACTTAAATTTGGGCAGCAATCCTTAAAACTATAGGAAATGACTTATTTTTCTTATTCACATCTATCTTCACCTCAAATTGATTTTGCTGTATAAAGGTCTCAGCTATTATGTTTGGTCTTATATCTTACATTAGGTACTTGAAACCTAAGCTTCATTTACTTGTGATTTTACTTGGTTCTTTCTGATAGTGATAATAGGTCTCATTTTCCAAAGCACAGTACAACTGATTCATCTTTGACTTGCTGACCTTGATTTTTTTGTTTTTAGTCTTCTGGAACTTAAGCATCATACTATAGGGTGTATTTTTATTCTTCTAAAAGAAGAAACCCATCTATATTTTTACTGAAATTTTGATGTACTCAGACATCTAACCTTTCAATTTACATGTTTTTAAACTCAGTATGAAAGTCCCTTTAATAGTTAAGCTTTAGCATGAAATACTACTTTTTAAATATCTATATGCAGGCTCTGCATACATCAGGAATCTGTTTAAGATATGTAATAAATTCCTTGTAAGTTTGAGATCTTAAATGTTTTTTTTTTAAATCAACATGATGCATAAGTTTTTTTTTCTTAAAAAAACGGCATCTGCTTAAAGGGATTTATGACTAAAATTGCTTATTTTTCTACAGAGTTGTCTGCTGGTTCTCAGCTTGAAGAAGATTCTGCAGTCCTTATTGATCCTTTTTCTTGGCGTTACCATTTTTGAAGCAAAGTTAACCTAGCTTTCTAGTTTGAGCTTTCTTTTTGGCCGTCTTTAAAAAAATTTTTTTTTTTAATCTATAAAATAGACAAGAGCTAGTTCTACAATGTCCAAGTCATTCCAGCAGTCATCTCTCAGTAGGGACTCACAGGGTCATGGGCGTGACCTGTCTGCGGCAGGAATAGGCCTTCTTGCTGCTGCTACCCAGTCTTTAAGTATGCCAGCATCTCTTGGAAGGATGAACCAGGGTACTGCACGCCTTGCTAGTTTAATGAATCTTGGAATGAGTTCTTCATTGAATCAACAAGGAGCTCATAGTGCACTGTCTTCTGCTAGTACTTCTTCCCATAATTTGCAGTCTATATTTAACATTGGAAGTAGAGGTCCACTCCCTTTATCTTCTCAACACCGTGGAGATGCAGACCAGGCCAGTAACATTTTGGCCAGCTTTGGTCTGTCTGCTAGAGACTTAGATGAACTGAGTCGTTATCCAGAGGACAAGATTACTCCTGAGAATTTGCCCCAAATCCTTCTACAGCTTAAAAGGAGGAGAACTGAAGAAGGCTCTACCTTGAGTTATGGTAGAGATGGCAGATCTGCTACACGGGAGCCACCATACAGAGTACCTAGGGATGATTGGGAAGAAAAAAGGCACTTTAGAAGAGATAGTTTTGATGATCGTGGTCCTAGTCTCAACCCAGTGCTTGATTATGACCATGGAAGTCGTTCTCAAGAATCTGGTTATTATGACAGAATGGATTATGAAGATGACAGATTAAGAGATGGAGAAAGGTGTAGGGATGATTCTTTTTTTGGTGAGACCTCGCATAACTATCATAAATTTGACAGTGAGTATGAGAGAATGGGACGTGGTCCTGGCCCCTTACAAGAGAGATCTCTCTTTGAGAAAAAGAGAGGCGCTCCTCCAAGTAGCAATATTGAAGACTTCCATGGACTCTTACCGAAGGGTTATCCCCATCTGTGCTCTATATGTGATTTGCCAGTTCATTCTAATAAGGTGAGTTAACTCAACAGATGCTTCTAATTTCTTTTACATTGTAGTGCCTATTTACCTATATCTTTGACTCTAATTCTGTAGTCTGATGACATTGAGTTGATCAAGCATTTTTAAACTTTTGAGAACACTTACTTTATTTGGAAGGTAATTGTTTTTGAGCATTTTAAACCAGGGCTTTACATTAATATATTCTGCCTAGATTACTTCTGGCCACAAAGCTATCATCCACTGAGATTATCTTGTTGGTTTTTGGCATCAATATGTTCTTCTTAATCATATATTTAAGCAGGTTTTTTTTGTCTGCTTTGTTGAATTGTTTTAAGTATTTTTTTTGCAGTCAATGTGCTCTGCCATTCAGGATGCTAGATTTCAGCTCTCCATCTGTCTTGATTGCTGATTTGTATGTAGTAAAGATGTATTCTTGAACAATTCTCTTTTTTTCCTTATCTGTGGCTACAGGGAAAGAGTTAATGTAGAGCCCTGGTGTTTGTTTCAGTATGTTTCATATTTTAGATTAGTTCATTCTTCCTTTTTTAATTTCCCTTTAACACAAACTCTCATACTATGACTGAAATTTTTCATCATTTTTTTTCTCCTTTTCCACAACTTTCTTAAACATACTTCAAAACTCACTTTTTATTATCCCATGTTACATCTGTCCCTTTAGAGACTTGGACAAATCAACTACTACAGTATCCTGCTCTGTGTTCCTCATAAACAAATTCTTTTTCTGAGTTAGGCTTAGACTTCTGAAATAGTCATTTGAAAAGAAAATCTAATTCTCCTTTGCTTTAATTATCACATCTGGCAAAATGGGAACTTTTTCAAAATGCCCTTTTAAATATGTTGTCCTTTCTCTTTCAACTTTTTCAGTGTTACTCATTCTGACTTTTTTTCCCCCAATATATGGTGCAGTTGACTTAAAGTCATTGTTATAGCACCCCACTAGCTTGATCTATAATCTGTGACCGTCCATTTTTTCCTGATGTGCTCTACTTAACTGGAACAAGTTGCTGCCATGAAATTGATTTGATGGTTACTGTTACAGGGTTTTTCTTTACAGTAACATCTGGAAGGGTCATTTTCTTTTCATAGCTAATCCTTTGATAAGCATTTTTTAGTAAATGAGTATGGATTTTTTTTTAGTAGACTAAATCATACCATTGTTTTTAATATTCTGTTAAAGAGTATTACCAGTCACTCCCTTTCCTTGTGTTTGGATCTCAGTATTTTTGTCTTTTAATCTTTAATCTGTACCAAAGTAAATTAACATAAATGCTAAATTTAGGTTTATTTAAACATTTAAGAAGATGTATTTTCATTAAGAAATACAACCCCAGACTCACAAAAGCCAGCAAATTTTAATTGGTATATGTTTTGGGTGTTACCTTTTCCTAAATTTGTTGGCTCTACTAAATATATCATGGAATTCATTTTAGTTTCTGATCAGCACTAAACTTTAAATTTTAGGTCCCGTGTGAATTCATAGAATGAAAAGGTCCATTAAACACTGGTGACTCCAATTTTTTCTGCGTTATTTCTTGCCTGTTTATAAGGAAATAATAGCAGAAATGTCAGTATGACCAATATTCTCA
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Task1_train_9543
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The gene LOC126807526, MATR3 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:138657767-138658966| matrin 3) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Amyotrophic lateral sclerosis type 21
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TTTGTTTTTCTTTTTTTGTTTTAAACACTTCTGTAATTCAGCATTGCAAGTTTGTGTTCTTCCAGACTTTTATTTTTCTTACACTATTTTAATATCTTAAGCTTATTACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCCGGCTGTAGTGCAGTGGTGCAATCTCAGCTTACTGCAAGTTCTGCCTCCCCGGTTCATGGCATTCTCCTGCCTCAGCTTCCCCAGTAGCTGGGACCACAGGCACCCGCCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTACTAGAGACGGGTTTCACCATCCACAGGATGGTCTCGATCCCCTGACCTTGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTGAGCCACCGCGCCCAGCCAGCTTATTACTTTTTTGCAGAGTGTATATAGATGGCTTAGTATTTGGCACTAAAGTGATTCTTGGGGATTTTGTAAATCTGACAGGTTGGTTTTTTGGTTTTTGGTTTTTTCTGAGATGGAGTCTTGCTCTGTCGCCCAGTCTAGAGTGCAGTGGTGCCATCTTGGCTTGCTATAAACTCCGCCTCCTGGGTTCAAGCAGTTCTCCTATGTCAGCCTTCCAAGTAGCTGGTACTACAGTAGGCACACTCCACCAGGCCCAGCTGATTTTTGCATTTGTAGTAGAGATGGGGTTTCACCATACTGGTCAGGCTGTTCTCGGAATTCCTGACCTCAGGTGAGCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCCTGATATTCAGTGAATTTTTAACTCTGTGCTAAAGATTAAAATTTTTAGCCGGGTGTGGTTGCTGTCACCTGTAATCCCAGCACTTTGTGAGGCCAAAGCAGGAGGATTGCCTGAGTCCAGGAGCCCGAGACCAGTCTAGGCAACATGGCGAAACTGCACCTCTACAAAAAATACAAAAATTAGCCAGGCATTGGTGGTGCATGCCTGTAGACCTAGCTACTGGGGGGCTAAGGTGGGAGGATCAGTTGGGCCCAGTACATCAACGCTTCAGCAAGCCAGGATTGCGCCACTGCATTCCAGCCTGGGTGACACAGTGAGACCCTGTCTCAAAAAAGAAAAAAAGTAATGAAAATTTTCTAACCAGTAGGTAGAATACATAATAAGGTTTTATACAATTTTGTAAAATATAATGTGCTTTGTGGTTTCTTTTCTTTCTTTTTAAGGCTTTTATTGAGATGGAGACAAGAGAAGATGCAATGGCAATGGTTGACCATTGTTTGAAAAAAGCCCTTTGGTTTCAGGGGAGATGTGTGAAGGTTGACCTGTCTGAGAAATATAAAAAACTGGTTCTGAGGGTATGTAGTATTTGATTTGTCATCATTTAACAGCTTGTTTTTACATATTTAAAGCCACAACATTCTTTTAAACATTTTTGTATGCTAAAAATACAGGATTATTGAAACCTATTGAAATAAGTTATTGAAAGAGAACAACCTTTTTTTCTGGTCTTTAATGGCAGAAGTTTTTAAACGAGTCTTCCCTAAAGGACACCTTCATTGCTCTTATCTGTTTAAGTTTTTCATAGCGTTCTGCTACCAGAATGTTTTATTTTCCACTTCTCTGTTGGTATGGTCATGATGAATGTCTGTAGGCAGCTTAGGTTCTCAAATAAGGTTACGGGAATTGAATAAGCTGAGTTGATTATAGGGATTGTCTCCAATTATTAATTCACTGGATAATTGTGTATTCTGCAAATGTGTTAACTTCTGCAAAACTTTTGTCTTTTAGATTCCAAACAGAGGCATTGATTTACTGAAAAAAGATAAATCCCGGTAATTTCATTTTGTTTTTCATATGTGTGAGTATATTCAACTTTACTTTTTCAGACAACAAATTAATTGTGGTGTGTCCTTTTGATTTCAGAAAAAGATCTTACTCTCCAGATGGCAAAGAATCTCCAAGTGATAAGAAATCCAAAACTGATGGTTCCCAGAAGACTGAGAGTTCAACCGAAGGTAAAGAACAAGAAGAGAAGTCCGGTGAAGATGGTGAGAAAGACACAAAGGATGACCAGACAGAGCAGGAACCTAATATGCTTCTTGAATCTGAAGATGAGCTACTTGTAGATGAAGAAGAAGCAGCAGCACTGCTAGAAAGTGGCAGTTCAGTGGGAGACGAGACCGATCTTGCTAATTTAGGTGATGTGGCTTCTGATGGGAAAAAGGAACCATCAGATAAAGCTGTGAAAAAAGATGGAAGTGCTTCAGCAGCAGCAAAGAAAAAGCTTAAAAAGGTAAAGAAAGATACATTGATTTGTTTTAATAGAACATTAGATCAGATCAGTATTTCAAGTTATTTACCTAAGCAGGATCAGATAGAATTATATGATTTAAATCAGAAAATAAATCAGATATGAACCAGAATATAAACATTTAAATCTAAACTCTGCAATAAATAATTAAATAAGACATTTTATTATAGTTGGCAAAAAACATCAGCTCAAAGAGGAAACTTTTCAGTAAAAATGAGGGAGAAAGACTCAAAATATATGTGCTTCTGTATTGTAGTGGTGTAGTGGTAGCATATAGGTAGGCAGCCTTATAGTGTAGCTTTGAAAAAAAAAATACAGGACGTGAGTTTGCAGTAAGTTAACTGACCCAACATAGTTAAAACTTTTGCCACTCATTCAAAAATTATTGAATAATTTTTCCTATTTGAGAAATGTTGGCCTGGTCAGATACCTTAGTATCCTTTAAAACAATTTTATTTGAACAAGTAAGTCATTTAGAAGCCATGTATAAAGTGAATATAAATATAAAAATACACACATGCTATAAAGAAGAGTAAACAAAGGACCCACATTGAGCTGACTGCCTAGCTTAAGGAGTAGGGCATTAAAATGCCTTTGAGGCAAACTTTTTATGTTAAATGGCTCATAAAATGTCGGAGTCAGGCGGGCCCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAGCAGATCAGTTGAGGCCAGGAGTTCAAGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATGAAAATTAGCCGGGCGTGGTGGCACATACCTGTAGCAGCTACTTGGAAGGCTGAGACAGGAGAATTGCTTGAATCTGGGAGGCAGAAGTTGCAGTTAGCCAAGATCACATCACTGTACTCCAGCCTGGGTGACAAGAGCAAGACTGTCTCAAGAAAAAAAAAAAGTAGAGCGAAATGAGATTTTTGCCATCCTATTCCATATTCCATTGGTTCCTTTTATGCAACATTCAACTCAAAACCAATATTTACCTCAGTTTTTATTTGATGGCTTGGTCAAATAACTTCATTAATTTTTCTCACTAGAGCTGATCATTATGTTTACATTTGTAAATGCTAATAATTACTGATGTTTATGGCATTTAATGCCATACGTTTTTCTAAGTTTAAATTTATTAATTTAATCCTCACAGTAACCATATGCATCTCATACTGTGATCTCCAGTCCATAAATGAGGAAAATTGAAATATGGAGAAGTTAAATAATCCCATACTGCTTATAAGACACAGAGCCAAAATTTAAACTTGGGCAGTCATTCTTCAGAGCATGATTGTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGTGTGATCTCAGCTAACTGCAACCTCCACCTCCCAGGTTCAAGTTCTGCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTCCACCACCACACGAGGCTAATTCTTGTATTTTTAGTAGAAACGAGGTTTCGCCATGTTGGCCTGGCTGGTATTGAACTCCTGAGATCTCAGGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACCATGCCTGGCCCAGAGCTTGGTTTTTTAGCCATTACACTGTTTGAGTATTTGCTCTAAAGAGTAGGTATTTGCAGTATACTGTCTTACAAAGGATATTGCTCAACTTTTACCAAATCAAGTTTTTTACACATTGCCTAGCAGCATTGT
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TTTGTTTTTCTTTTTTTGTTTTAAACACTTCTGTAATTCAGCATTGCAAGTTTGTGTTCTTCCAGACTTTTATTTTTCTTACACTATTTTAATATCTTAAGCTTATTACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCCGGCTGTAGTGCAGTGGTGCAATCTCAGCTTACTGCAAGTTCTGCCTCCCCGGTTCATGGCATTCTCCTGCCTCAGCTTCCCCAGTAGCTGGGACCACAGGCACCCGCCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTACTAGAGACGGGTTTCACCATCCACAGGATGGTCTCGATCCCCTGACCTTGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTGAGCCACCGCGCCCAGCCAGCTTATTACTTTTTTGCAGAGTGTATATAGATGGCTTAGTATTTGGCACTAAAGTGATTCTTGGGGATTTTGTAAATCTGACAGGTTGGTTTTTTGGTTTTTGGTTTTTTCTGAGATGGAGTCTTGCTCTGTCGCCCAGTCTAGAGTGCAGTGGTGCCATCTTGGCTTGCTATAAACTCCGCCTCCTGGGTTCAAGCAGTTCTCCTATGTCAGCCTTCCAAGTAGCTGGTACTACAGTAGGCACACTCCACCAGGCCCAGCTGATTTTTGCATTTGTAGTAGAGATGGGGTTTCACCATACTGGTCAGGCTGTTCTCGGAATTCCTGACCTCAGGTGAGCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCCTGATATTCAGTGAATTTTTAACTCTGTGCTAAAGATTAAAATTTTTAGCCGGGTGTGGTTGCTGTCACCTGTAATCCCAGCACTTTGTGAGGCCAAAGCAGGAGGATTGCCTGAGTCCAGGAGCCCGAGACCAGTCTAGGCAACATGGCGAAACTGCACCTCTACAAAAAATACAAAAATTAGCCAGGCATTGGTGGTGCATGCCTGTAGACCTAGCTACTGGGGGGCTAAGGTGGGAGGATCAGTTGGGCCCAGTACATCAACGCTTCAGCAAGCCAGGATTGCGCCACTGCATTCCAGCCTGGGTGACACAGTGAGACCCTGTCTCAAAAAAGAAAAAAAGTAATGAAAATTTTCTAACCAGTAGGTAGAATACATAATAAGGTTTTATACAATTTTGTAAAATATAATGTGCTTTGTGGTTTCTTTTCTTTCTTTTTAAGGCTTTTATTGAGATGGAGACAAGAGAAGATGCAATGGCAATGGTTGACCATTGTTTGAAAAAAGCCCTTTGGTTTCAGGGGAGATGTGTGAAGGTTGACCTGTCTGAGAAATATAAAAAACTGGTTCTGAGGGTATGTAGTATTTGATTTGTCATCATTTAACAGCTTGTTTTTACATATTTAAAGCCACAACATTCTTTTAAACATTTTTGTATGCTAAAAATACAGGATTATTGAAACCTATTGAAATAAGTTATTGAAAGAGAACAACCTTTTTTTCTGGTCTTTAATGGCAGAAGTTTTTAAACGAGTCTTCCCTAAAGGACACCTTCATTGCTCTTATCTGTTTAAGTTTTTCATAGCGTTCTGCTACCAGAATGTTTTATTTTCCACTTCTCTGTTGGTATGGTCATGATGAATGTCTGTAGGCAGCTTAGGTTCTCAAATAAGGTTACGGGAATTGAATAAGCTGAGTTGATTATAGGGATTGTCTCCAATTATTAATTCACTGGATAATTGTGTATTCTGCAAATGTGTTAACTTCTGCAAAACTTTTGTCTTTTAGATTCCAAACAGAGGCATTGATTTACTGAAAAAAGATAAATCCCGGTAATTTCATTTTGTTTTTCATATGTGTGAGTATATTCAACTTTACTTTTTCAGACAACAAATTAATTGTGGTGTGTCCTTTTGATTTCAGAAAAAGATCTTACTCTCCAGATGGCAAAGAATCTCCAAGTGATAAGAAATCCAAAACTGATGGTTCCCAGAAGACTGAGAGTTCAGCCGAAGGTAAAGAACAAGAAGAGAAGTCCGGTGAAGATGGTGAGAAAGACACAAAGGATGACCAGACAGAGCAGGAACCTAATATGCTTCTTGAATCTGAAGATGAGCTACTTGTAGATGAAGAAGAAGCAGCAGCACTGCTAGAAAGTGGCAGTTCAGTGGGAGACGAGACCGATCTTGCTAATTTAGGTGATGTGGCTTCTGATGGGAAAAAGGAACCATCAGATAAAGCTGTGAAAAAAGATGGAAGTGCTTCAGCAGCAGCAAAGAAAAAGCTTAAAAAGGTAAAGAAAGATACATTGATTTGTTTTAATAGAACATTAGATCAGATCAGTATTTCAAGTTATTTACCTAAGCAGGATCAGATAGAATTATATGATTTAAATCAGAAAATAAATCAGATATGAACCAGAATATAAACATTTAAATCTAAACTCTGCAATAAATAATTAAATAAGACATTTTATTATAGTTGGCAAAAAACATCAGCTCAAAGAGGAAACTTTTCAGTAAAAATGAGGGAGAAAGACTCAAAATATATGTGCTTCTGTATTGTAGTGGTGTAGTGGTAGCATATAGGTAGGCAGCCTTATAGTGTAGCTTTGAAAAAAAAAATACAGGACGTGAGTTTGCAGTAAGTTAACTGACCCAACATAGTTAAAACTTTTGCCACTCATTCAAAAATTATTGAATAATTTTTCCTATTTGAGAAATGTTGGCCTGGTCAGATACCTTAGTATCCTTTAAAACAATTTTATTTGAACAAGTAAGTCATTTAGAAGCCATGTATAAAGTGAATATAAATATAAAAATACACACATGCTATAAAGAAGAGTAAACAAAGGACCCACATTGAGCTGACTGCCTAGCTTAAGGAGTAGGGCATTAAAATGCCTTTGAGGCAAACTTTTTATGTTAAATGGCTCATAAAATGTCGGAGTCAGGCGGGCCCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAGCAGATCAGTTGAGGCCAGGAGTTCAAGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATGAAAATTAGCCGGGCGTGGTGGCACATACCTGTAGCAGCTACTTGGAAGGCTGAGACAGGAGAATTGCTTGAATCTGGGAGGCAGAAGTTGCAGTTAGCCAAGATCACATCACTGTACTCCAGCCTGGGTGACAAGAGCAAGACTGTCTCAAGAAAAAAAAAAAGTAGAGCGAAATGAGATTTTTGCCATCCTATTCCATATTCCATTGGTTCCTTTTATGCAACATTCAACTCAAAACCAATATTTACCTCAGTTTTTATTTGATGGCTTGGTCAAATAACTTCATTAATTTTTCTCACTAGAGCTGATCATTATGTTTACATTTGTAAATGCTAATAATTACTGATGTTTATGGCATTTAATGCCATACGTTTTTCTAAGTTTAAATTTATTAATTTAATCCTCACAGTAACCATATGCATCTCATACTGTGATCTCCAGTCCATAAATGAGGAAAATTGAAATATGGAGAAGTTAAATAATCCCATACTGCTTATAAGACACAGAGCCAAAATTTAAACTTGGGCAGTCATTCTTCAGAGCATGATTGTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGTGTGATCTCAGCTAACTGCAACCTCCACCTCCCAGGTTCAAGTTCTGCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTCCACCACCACACGAGGCTAATTCTTGTATTTTTAGTAGAAACGAGGTTTCGCCATGTTGGCCTGGCTGGTATTGAACTCCTGAGATCTCAGGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACCATGCCTGGCCCAGAGCTTGGTTTTTTAGCCATTACACTGTTTGAGTATTTGCTCTAAAGAGTAGGTATTTGCAGTATACTGTCTTACAAAGGATATTGCTCAACTTTTACCAAATCAAGTTTTTTACACATTGCCTAGCAGCATTGT
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Task1_train_9544
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A variant on Chromosome 5 in gene STING1 (stimulator of interferon response cGAMP interactor 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; STING-associated vasculopathy with onset in infancy
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GGTAAATGACACGCAGCACCCTGCTGCCCTGTACCAAGATGAGGAGGGGTGCAGGGAGGCATGCATGTGCAGGCAGGTTTGGACATTAGGGACAGTAATTCCCATCTGTTATATCGGTCAGAGTCCAGCAGGAAAAAGACGACACACTCACATTGGGTAATCTGAGATGTGCTTTAAAAAAGGACCGTTGAGAAAGGGGTGGAGTATAAGGAAACCGCAAGTGAGAGGGAGTACTCTAGTGGGGTGGGGGTGCCGATACACAGCTAGGCTTAAGGGGCCAGGGAAGGAAGTGGTGCCAGAATCCTAGAGATAGTCATGATTACGCAAGAGTTGCCCGGCAGGAGAGTCCATAGCAACCTTGATGCTGCAGGGTGGGAGCCGGGGGATTCAATACCCCAAACTCAGCCTCCTCCTCCTCTCCATTCTTCTGCTGGGGCTCCCCAATAATGGAACATGACCAGGAGCCAGAGGGCGAAGGAGCCTGTTGATACCATTGAGAGAGTTCGGCGTCCCCGGGCAAAGGAAGGGGAGAAGGGTGGGGAGTGGGTCTGGAAGGCCCCATGAAAGACACCTGGCACACCCCCTAAGTACACTAGCATCCAAAGTTTATGAAAAACTTCCACACACTCAGTCCTCACAACAACCGTGAGGGAGGTAAGGCAGTGATTATGATCCCATTTCACAGGTTGAAGACACCGAGGCTCAGAGAGGGGAAATGACTGGCCCAAGGGGACAAGACGCATCTTAAGATGTCAAGTCCTGGACCCTTCCCTGCAAGGCCCCCTGTGGAAGGAAATAGCTCTGCTGGACATTCAGCCACTGAAGAGAGCCCCCAGTCCAGAGGCTTGGAGACCACTGGAGGCTCTGGCCTGGTGACCCTGGGTCTCAAGAGAAATCCGTGCGGAGAGGGAGGGGCTTTTCCATTCCACTGATGAGGAGCTCAGGCTCTTGGGACATCGTGGAGGTACTGGGCACCGCTGAGGTCTTCAAGCTGCCCACAGTAACCTCTTCCTTTTCCTCCTGCCGCAGGTGCCGGAGAACCTCCTGGGACAGCGAGAAGCTGCTGTCATCTGCAGGTTCTGGAACAGGGAGATAGGGGAGAGAGTAATGAGGATCTTACCCATTCCCACTCAAACATACCTAGAGAACTTGCTGGGAAGATCCCCTAACCCTCCCTACCCCCCTTCCTACCCAAGCCCCAGCCACTGGGACTAGAGTTTCATAGAATCCTAGAGGTAGAAGTGGTTCAGGCCTGGCACAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTAGATCATGAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGGACCCGGGAGGTGGAGGTTGCAGTGACCCGAAATCGAGCCACTTCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAGTGATTTCAGAGAGAATGAAATTCCACCCTCTTACTTTTAAAGCTAATGCTCAGAGAGGAGCAGAAACCTGCCCGAGGTCACACAGTGAGGGAGTAGTAGAGCCGAGGCTGCAGCCCTAGTCTCCTGTGCCCAGTACATACTGGCCTGGGACTCTTCTGTTTCCTCTGGAATCCTAGATGAAGTGAGAGGCCCCTAGAACCCACCTCTTCAGGCTCCCCTGAGGGATTACAGTCAAAGACCTAAAAAGCAATCTGGTGTGCTGGGAAGAGGGGGCTTCTCCCAGGGAAGGAAGGACAGGCCCAGGGCATGGTGCTCCATAGCCCCTTCTGACTCTTTGGGAGACCCTGGGACCCCTGACTCCTCCTGCCCTCCAGCCTATCAACCCCTCACCCTACCAACCCCTCACCCTGGTAGGCAATGAGGCGGCAGTTGTTCTGAGACTCAGGGGCATCTGCCAGGATGTCCTCAAGTGTCCGGCAGAAGAGTTTGGCCTGCTCAAGCCTATCCTCCCGGCTAAAGCCAGCTTGACTGTATTGTGACATGGCAAACAAAGTCTGCAAGGGGGTGGCGTACTCCAGGACACAGGTGCCCGCCTAGAGGAGGTAAGAGGAAGACCAGACTAAGCCAGGGGCCAGGCGGATGGAGAATGGAGGGTCCAGTCCAGGCTCTGGCCCCCAGTGCCACGGGCTGAGGCCCCACTCCCTCAGCCTGTAACGATAGAGTCCTGGGAGGTGGCCACCCTAATGGGGTCTATGCTGTCTGGCCTGCCTTTGCCTCTGATACCCAACTCTGAAATCAGGGACACGGCTGGGCTAAATTTACCCTTCACAGATCCTTCTTCCAAGATCCTAGGGCAAGACCCGAGGCTGTCAACTGCTCCAGCTGGGAATCAGGTCTGGGGCTAGGCTCTGGGTTCAACTCTGGTCTGGGTTCCCCTGCACCCACATGAATCCTTCAGATGTTCTCACAGCCTTCGTCTGGGGCAGCTTTATGGTCAAGAGCATGGTACAGTCAAGTTTAAATCGTCCACTTTCCTACGGTGTCTCTGAGCCTCAGTGTCCTCCTCTGTAAAGTGGGAATGCTAACAGTCCCTACCCCATAGGGTGGTGGTGAGAATTCAATGAGGTGATCAGATGACACACCCAGAATAGCATCCAGCTTGTAGTAAGTGCTCGATAAATGTTACTCATCATTATCATTCAGAGCTGAATCCTGCCCAGACCTGGGACCAGCTAGGGACACTACAGCTCAGAGAAGGGCAGTGAATTTTCATCAGTGCTTGGCTAGGGCCCAGGGTTCTGGGGTCCTGACCCCTCCTCAGAGACCCCCACTCCCCTGCACACTTACCCGCTGCCCGTTCTCCAGAAGCTCATAGATGCTGTTGCTGTAAACCCGATCCTTGATGCCAGCATGGTCACCGGTCTGCTGGGGCAGTTTATCCAGGAAGCGAATGTTGGGGTCAGCCATACTCAGGTTATCAGGCACCCCACAGTCCAATGGGAGGAGAATATACAGCCGCTGGCTCACTGCACCCCGTAGCAGGTTGTTGTAATGCTGATTGTAAGTTCGAATCCGGGCCTGGAGCTCTGAGGCAGGGAAGCCCAAGAAGTTATTCCTGCTAACCCTATCTCCCACCTGATTCAGGAGTGAGACCCAGGTCATTGGCCCCCGCAGTGTGTGGGTGCCAGAGAATGGAGAGTCCAGTGCACTCTCATTGTACAGGAGGCCAGGAGGGGCAGCGCCTCCAAAAGCCCTCCCCACCCCTCCTCTTACTGCACCACCCTTTACCCTCCCTCACTTCTTTCCTCAGATGTCTATGTCAGCGCCACCCCTTTCCACCATGGCTTTCAGGGCTGAGAGGCAGGCAGAGCCCTGAGAGGTGACATTTCCAGCATTCTCGTGTGCACAGAGGGAGGCCTCTAGCCCCAGATCAGTCTCCTAGCGGAAGCCCTAGGAGATAGCAATGAGATATGGAAGAGCTGCCGCTTTAGCCTGCAAGTCAGAAGAATAAAACACACAGGCTTAGGGCAGGCACAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACATTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCTAGCTATTCAAGAGGCTCAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCTTGTCACCACTGTACTCCAGGCTGGGTAACAGAAAGAGACTTCATCTCAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAAACACAGGCTCCACGGTGCAGTGGTCTAGGGTCCAGGCTCTGGACAAACCTGGGTTCAAATCCTTTCTCTTCCTCTCTCTAAGCTATGTGATATCGGATAAATCACTTTACCTCTCAGAACTGCACTTAAAAAAAAAGGCCAGGCACAGTGGCTCATGCCTATAGTTCTAGCACTTTGGGAGGCCGAGG
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GGTAAATGACACGCAGCACCCTGCTGCCCTGTACCAAGATGAGGAGGGGTGCAGGGAGGCATGCATGTGCAGGCAGGTTTGGACATTAGGGACAGTAATTCCCATCTGTTATATCGGTCAGAGTCCAGCAGGAAAAAGACGACACACTCACATTGGGTAATCTGAGATGTGCTTTAAAAAAGGACCGTTGAGAAAGGGGTGGAGTATAAGGAAACCGCAAGTGAGAGGGAGTACTCTAGTGGGGTGGGGGTGCCGATACACAGCTAGGCTTAAGGGGCCAGGGAAGGAAGTGGTGCCAGAATCCTAGAGATAGTCATGATTACGCAAGAGTTGCCCGGCAGGAGAGTCCATAGCAACCTTGATGCTGCAGGGTGGGAGCCGGGGGATTCAATACCCCAAACTCAGCCTCCTCCTCCTCTCCATTCTTCTGCTGGGGCTCCCCAATAATGGAACATGACCAGGAGCCAGAGGGCGAAGGAGCCTGTTGATACCATTGAGAGAGTTCGGCGTCCCCGGGCAAAGGAAGGGGAGAAGGGTGGGGAGTGGGTCTGGAAGGCCCCATGAAAGACACCTGGCACACCCCCTAAGTACACTAGCATCCAAAGTTTATGAAAAACTTCCACACACTCAGTCCTCACAACAACCGTGAGGGAGGTAAGGCAGTGATTATGATCCCATTTCACAGGTTGAAGACACCGAGGCTCAGAGAGGGGAAATGACTGGCCCAAGGGGACAAGACGCATCTTAAGATGTCAAGTCCTGGACCCTTCCCTGCAAGGCCCCCTGTGGAAGGAAATAGCTCTGCTGGACATTCAGCCACTGAAGAGAGCCCCCAGTCCAGAGGCTTGGAGACCACTGGAGGCTCTGGCCTGGTGACCCTGGGTCTCAAGAGAAATCCGTGCGGAGAGGGAGGGGCTTTTCCATTCCACTGATGAGGAGCTCAGGCTCTTGGGACATCGTGGAGGTACTGGGCACCGCTGAGGTCTTCAAGCTGCCCACAGTAACCTCTTCCTTTTCCTCCTGCCGCAGGTGCCGGAGAACCTCCTGGGACAGCGAGAAGCTGCTGTCATCTGCAGGTTCTGGAACAGGGAGATAGGGGAGAGAGTAATGAGGATCTTACCCATTCCCACTCAAACATACCTAGAGAACTTGCTGGGAAGATCCCCTAACCCTCCCTACCCCCCTTCCTACCCAAGCCCCAGCCACTGGGACTAGAGTTTCATAGAATCCTAGAGGTAGAAGTGGTTCAGGCCTGGCACAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTAGATCATGAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGGACCCGGGAGGTGGAGGTTGCAGTGACCCGAAATCGAGCCACTTCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAGTGATTTCAGAGAGAATGAAATTCCACCCTCTTACTTTTAAAGCTAATGCTCAGAGAGGAGCAGAAACCTGCCCGAGGTCACACAGTGAGGGAGTAGTAGAGCCGAGGCTGCAGCCCTAGTCTCCTGTGCCCAGTACATACTGGCCTGGGACTCTTCTGTTTCCTCTGGAATCCTAGATGAAGTGAGAGGCCCCTAGAACCCACCTCTTCAGGCTCCCCTGAGGGATTACAGTCAAAGACCTAAAAAGCAATCTGGTGTGCTGGGAAGAGGGGGCTTCTCCCAGGGAAGGAAGGACAGGCCCAGGGCATGGTGCTCCATAGCCCCTTCTGACTCTTTGGGAGACCCTGGGACCCCTGACTCCTCCTGCCCTCCAGCCTATCAACCCCTCACCCTACCAACCCCTCACCCTGGTAGGCAATGAGGCGGCAGTTGTTCTGAGACTCAGGGGCATCTGCCAGGATGTCCTCAAGTGTCCGGCAGAAGAGTTTGGCCTGCTCAAGCGTATCCTCCCGGCTAAAGCCAGCTTGACTGTATTGTGACATGGCAAACAAAGTCTGCAAGGGGGTGGCGTACTCCAGGACACAGGTGCCCGCCTAGAGGAGGTAAGAGGAAGACCAGACTAAGCCAGGGGCCAGGCGGATGGAGAATGGAGGGTCCAGTCCAGGCTCTGGCCCCCAGTGCCACGGGCTGAGGCCCCACTCCCTCAGCCTGTAACGATAGAGTCCTGGGAGGTGGCCACCCTAATGGGGTCTATGCTGTCTGGCCTGCCTTTGCCTCTGATACCCAACTCTGAAATCAGGGACACGGCTGGGCTAAATTTACCCTTCACAGATCCTTCTTCCAAGATCCTAGGGCAAGACCCGAGGCTGTCAACTGCTCCAGCTGGGAATCAGGTCTGGGGCTAGGCTCTGGGTTCAACTCTGGTCTGGGTTCCCCTGCACCCACATGAATCCTTCAGATGTTCTCACAGCCTTCGTCTGGGGCAGCTTTATGGTCAAGAGCATGGTACAGTCAAGTTTAAATCGTCCACTTTCCTACGGTGTCTCTGAGCCTCAGTGTCCTCCTCTGTAAAGTGGGAATGCTAACAGTCCCTACCCCATAGGGTGGTGGTGAGAATTCAATGAGGTGATCAGATGACACACCCAGAATAGCATCCAGCTTGTAGTAAGTGCTCGATAAATGTTACTCATCATTATCATTCAGAGCTGAATCCTGCCCAGACCTGGGACCAGCTAGGGACACTACAGCTCAGAGAAGGGCAGTGAATTTTCATCAGTGCTTGGCTAGGGCCCAGGGTTCTGGGGTCCTGACCCCTCCTCAGAGACCCCCACTCCCCTGCACACTTACCCGCTGCCCGTTCTCCAGAAGCTCATAGATGCTGTTGCTGTAAACCCGATCCTTGATGCCAGCATGGTCACCGGTCTGCTGGGGCAGTTTATCCAGGAAGCGAATGTTGGGGTCAGCCATACTCAGGTTATCAGGCACCCCACAGTCCAATGGGAGGAGAATATACAGCCGCTGGCTCACTGCACCCCGTAGCAGGTTGTTGTAATGCTGATTGTAAGTTCGAATCCGGGCCTGGAGCTCTGAGGCAGGGAAGCCCAAGAAGTTATTCCTGCTAACCCTATCTCCCACCTGATTCAGGAGTGAGACCCAGGTCATTGGCCCCCGCAGTGTGTGGGTGCCAGAGAATGGAGAGTCCAGTGCACTCTCATTGTACAGGAGGCCAGGAGGGGCAGCGCCTCCAAAAGCCCTCCCCACCCCTCCTCTTACTGCACCACCCTTTACCCTCCCTCACTTCTTTCCTCAGATGTCTATGTCAGCGCCACCCCTTTCCACCATGGCTTTCAGGGCTGAGAGGCAGGCAGAGCCCTGAGAGGTGACATTTCCAGCATTCTCGTGTGCACAGAGGGAGGCCTCTAGCCCCAGATCAGTCTCCTAGCGGAAGCCCTAGGAGATAGCAATGAGATATGGAAGAGCTGCCGCTTTAGCCTGCAAGTCAGAAGAATAAAACACACAGGCTTAGGGCAGGCACAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACATTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCTAGCTATTCAAGAGGCTCAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCTTGTCACCACTGTACTCCAGGCTGGGTAACAGAAAGAGACTTCATCTCAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAAACACAGGCTCCACGGTGCAGTGGTCTAGGGTCCAGGCTCTGGACAAACCTGGGTTCAAATCCTTTCTCTTCCTCTCTCTAAGCTATGTGATATCGGATAAATCACTTTACCTCTCAGAACTGCACTTAAAAAAAAAGGCCAGGCACAGTGGCTCATGCCTATAGTTCTAGCACTTTGGGAGGCCGAGG
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Task1_train_9545
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This genomic variant is located on Chromosome 5, within the STING1 (stimulator of interferon response cGAMP interactor 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; STING-associated vasculopathy with onset in infancy
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GAGGTGACATTTCCAGCATTCTCGTGTGCACAGAGGGAGGCCTCTAGCCCCAGATCAGTCTCCTAGCGGAAGCCCTAGGAGATAGCAATGAGATATGGAAGAGCTGCCGCTTTAGCCTGCAAGTCAGAAGAATAAAACACACAGGCTTAGGGCAGGCACAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACATTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCTAGCTATTCAAGAGGCTCAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCTTGTCACCACTGTACTCCAGGCTGGGTAACAGAAAGAGACTTCATCTCAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAAACACAGGCTCCACGGTGCAGTGGTCTAGGGTCCAGGCTCTGGACAAACCTGGGTTCAAATCCTTTCTCTTCCTCTCTCTAAGCTATGTGATATCGGATAAATCACTTTACCTCTCAGAACTGCACTTAAAAAAAAAGGCCAGGCACAGTGGCTCATGCCTATAGTTCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTACCCAACATGGTGAAACCCCGTCTGTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCACCTAAAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCACTGGAACCTGGGAAGCAGAAGTTGCAGTGAGCCCAGATTGTGCCACTCTACTTCAGCCCGGGTGAAAAAGTGAAACTCCATCTTAAAAAAAAAAAAAAATCTAAGGCTGGTGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTACTTGAGGTCAAGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCATGCCGGTGGCAGGGACCTGTAATTCCAGCTACTTGGGAGGCTGAACCCAGGAGGCAGAGGTCGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGTCTGCGCAACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAATCTAAAATAGGTATGGGCTTGGTGGCTCCTGCTTGTTATCTCGGCACTTTGGGAAGCCAAGGCAGGAGGATTGCTTGAGCCCAGGAGTTGAGACCAGGCTGGGTAACATAGCAAAACCCTCTTCTTTTTAAAAAATATATAAATAAAATAAAACAGGAATAAAGATTATTCCTTCCTCATAGGGTGTGAATTAGAAAAGGCACATGAGAGCACACAGCATGCAGTAAATATTTATTGAAAGAATTTACAGCTGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGTACCGGCCTGGCCAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTTGTGGTGGGTGCCTATAATCCCAGCTACTCGGGAACCTGAGCCAGGATAATCACTTGAACTTGGAAGGAGGAGGTTGCAGTAGCCGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGGGAGATTCCTTCTCAAAAAGAAAAAAAAAGAATTCACAAGTGACCTTGGGCAAGTCACTTAATGGCTCTAAGCCCCATATTCCTTTCTGCAAACTAGGCATCATAGCAACATCCTTCATGCCTTGGGATTAAAGGATTTGGTAGACATGAAAATGCTTTGAAAAATATAGTGAGTTCTGTGTGTTTAGAAACACAAGAGGCTGTGTGTCTTAGTGTCTGTTTTGTAGATCGAGAAATGGGGGCAGAGAGGATGGCCCACCTGGCAGGATCAGCCGCAGATATCCGATGTAATATGACCATGCCAGCCCATGGGCCACGTTGAAATTCCCTTTTTCACACACTGCAGAGATCTCAGCTGGGGCCAGGCCCTGTGGACAGCAGGATGTGGCTGGGGGGCCTCCATCAAGGACACCCAGAGAACTCCTCCTCCTCCTCCAAGGCTTCCCAACCTGCTCCTGACTTGATCCCTCTTTTGCCATTGCCAAACCCACTGTTCCAGGACATTATAGGTTCTACTCCATGGACTCCAGCCTTTAAACCAGTCCCACTCCCAGTACTCAGCTCAGGGCAGGTCACACCAGCCACAGCCACCACTTGGCCAGAGCTTCTACCTCCCCCTGTGTCATACCTTGAGGCCCAGGAGGATGTTCAGTGCCTGCGAGAGGCCCAGGAGGGCAAGCATCCAAGTGAAGGGCGGGCCGACCGCATTTGGGAGGGAGTAGTAGAAATAGATGGACAGCAGCAACAGGGCCCCACGGCGGAGGGGGCAGCCCAGGCAGGCCCGCACAGTCCTCCAGTAGCTGCCCCGGTACCTGTGAGTGACAGCCAGACCCCAGACCCCAGCCCCCAGCCCAGCTCAGCCAGAGAGGTTCAAGGAGGGGCAGGGCTAGGCATCAAGGGAGTGACACACGTTGGATACCCCGTCCCTGGGTACTGCAGTGAGTCACCTGGAGTGGATGTGGCGCAGCTCCTCAGCCAGGCTGCAGACCCCGTTTAACAGCAGTCCCAGCTGCAGGGAGGCTAGGTGGAGCACCAGGTACCGGAGAGTGTGCTCTGGTGGCTCTCCTAGCCCCCAAAGGGTCACCAGGCAGGCACTCAGCAGAACCAAGGCTGCCTTCTGGGCCCCGTGACCCCTGGGACACGGGATGGATGGATGCAGGCTGGAGTGGGGCATCTGTGGGCACCAAGAAATCCATGACCATTCTCCCCTTGCCCTCCTGCCCTTCTGGGACTGAGGCTCTGGCTGGGCACTTCCTCCCAGTTCCCCTTTCCCTGGTGCCCAGCCACTCCCAGAGGCTGCTCTTAGAGACACCTCTAGGAGGCAGGCTGGGAATAAGTCACCCCAAAGCTCCTGTCTCAGCGAGGTTTGCTGAAAACAGAGCAGGGCCTGCACATACACGCCCCACCAAGACCCAGGGAGACCACAGGTGTGGTGAAGAAAGAAGGCAGCAACTATCCCAGACCCAGACTTGAAGCTGTCCTGTGCAGCCGTACCCAACCAAGAACCCTTGGGGACCTGGGTTCCCCTGTCCCCGGAACCCACCCCAGGGAGGACCTTAGTCAACAAAGTGGAAAACAGAGCTCAGGGAGTGGGGACAGGGCAGCCAGCAGGCACCCCCTCGCCTCTGGGTGCCAGGGGCCCTAGGTTTGGCGTTCTGCCAGGCTGATCTTGAGCCTACCTTCTGCCTCCCGGACACTGGCTGCTCTGGATGATGACGAGGAGAGAAGGCCCGGCGCTACGAGCAGCCAAGGGCAGCTTCTCTGAGTGCAGCCTGAAAATGAGATGTTAACAACGATTGGTTTCTCCACAACACTCTAGCCCTGGCGTTTCTCCAAACCGCAGCTTTACTGGTGCTGGGAAGGAGGGTATTTCCTGTTCCTCAGGAAGGGAGGTAGGAACCTTCCCTCAAAGCCCTGATGAGCTGGGCCTGAGTCCTGGGGTCAGGGGTGAGGTTTGAGAAAGCCTCCATTCCATTGCCCTTTGCTACCCCCAAACCAAGGGTGTTTAGAAACACTCACCGCAGTCACAGCTCTGAACAGCGGGTTCCCCTCAAGCCACCACGATCAAACACACTGTACCTAACACCTGAGCAGGACTCCACACACTCAGCCAAAGGCAGCACACACATCACACGATGATTCCCCGTCTCATATTTTTCTTCTGGTTTCCAGGATGCAGATTCTTTTTCTGAAAAGTGTGACCTAGGAGGGAGGAGTGAAAAATGAACAGTTATTTCCGGTAACAAGAGCTATTTTTATAAAGCACTTGGTGGGAGAGGAGGGGCACAGAGGAATGGGGGTTTGGCTCTTTGCAGGAAATGGCCACGCCTGTGACTTCTCCAAGAGAGCCTGCCGGTTTCTGCC
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GAGGTGACATTTCCAGCATTCTCGTGTGCACAGAGGGAGGCCTCTAGCCCCAGATCAGTCTCCTAGCGGAAGCCCTAGGAGATAGCAATGAGATATGGAAGAGCTGCCGCTTTAGCCTGCAAGTCAGAAGAATAAAACACACAGGCTTAGGGCAGGCACAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACATTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCTAGCTATTCAAGAGGCTCAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCTTGTCACCACTGTACTCCAGGCTGGGTAACAGAAAGAGACTTCATCTCAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAAACACAGGCTCCACGGTGCAGTGGTCTAGGGTCCAGGCTCTGGACAAACCTGGGTTCAAATCCTTTCTCTTCCTCTCTCTAAGCTATGTGATATCGGATAAATCACTTTACCTCTCAGAACTGCACTTAAAAAAAAAGGCCAGGCACAGTGGCTCATGCCTATAGTTCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTACCCAACATGGTGAAACCCCGTCTGTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCACCTAAAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCACTGGAACCTGGGAAGCAGAAGTTGCAGTGAGCCCAGATTGTGCCACTCTACTTCAGCCCGGGTGAAAAAGTGAAACTCCATCTTAAAAAAAAAAAAAAATCTAAGGCTGGTGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTACTTGAGGTCAAGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCATGCCGGTGGCAGGGACCTGTAATTCCAGCTACTTGGGAGGCTGAACCCAGGAGGCAGAGGTCGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGTCTGCGCAACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAATCTAAAATAGGTATGGGCTTGGTGGCTCCTGCTTGTTATCTCGGCACTTTGGGAAGCCAAGGCAGGAGGATTGCTTGAGCCCAGGAGTTGAGACCAGGCTGGGTAACATAGCAAAACCCTCTTCTTTTTAAAAAATATATAAATAAAATAAAACAGGAATAAAGATTATTCCTTCCTCATAGGGTGTGAATTAGAAAAGGCACATGAGAGCACACAGCATGCAGTAAATATTTATTGAAAGAATTTACAGCTGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGTACCGGCCTGGCCAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTTGTGGTGGGTGCCTATAATCCCAGCTACTCGGGAACCTGAGCCAGGATAATCACTTGAACTTGGAAGGAGGAGGTTGCAGTAGCCGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGGGAGATTCCTTCTCAAAAAGAAAAAAAAAGAATTCACAAGTGACCTTGGGCAAGTCACTTAATGGCTCTAAGCCCCATATTCCTTTCTGCAAACTAGGCATCATAGCAACATCCTTCATGCCTTGGGATTAAAGGATTTGGTAGACATGAAAATGCTTTGAAAAATATAGTGAGTTCTGTGTGTTTAGAAACACAAGAGGCTGTGTGTCTTAGTGTCTGTTTTGTAGATCGAGAAATGGGGGCAGAGAGGATGGCCCACCTGGCAGGATCAGCCGCAGATATCCGATGTAATATGACCATGCCAGCCCATGGGCCATGTTGAAATTCCCTTTTTCACACACTGCAGAGATCTCAGCTGGGGCCAGGCCCTGTGGACAGCAGGATGTGGCTGGGGGGCCTCCATCAAGGACACCCAGAGAACTCCTCCTCCTCCTCCAAGGCTTCCCAACCTGCTCCTGACTTGATCCCTCTTTTGCCATTGCCAAACCCACTGTTCCAGGACATTATAGGTTCTACTCCATGGACTCCAGCCTTTAAACCAGTCCCACTCCCAGTACTCAGCTCAGGGCAGGTCACACCAGCCACAGCCACCACTTGGCCAGAGCTTCTACCTCCCCCTGTGTCATACCTTGAGGCCCAGGAGGATGTTCAGTGCCTGCGAGAGGCCCAGGAGGGCAAGCATCCAAGTGAAGGGCGGGCCGACCGCATTTGGGAGGGAGTAGTAGAAATAGATGGACAGCAGCAACAGGGCCCCACGGCGGAGGGGGCAGCCCAGGCAGGCCCGCACAGTCCTCCAGTAGCTGCCCCGGTACCTGTGAGTGACAGCCAGACCCCAGACCCCAGCCCCCAGCCCAGCTCAGCCAGAGAGGTTCAAGGAGGGGCAGGGCTAGGCATCAAGGGAGTGACACACGTTGGATACCCCGTCCCTGGGTACTGCAGTGAGTCACCTGGAGTGGATGTGGCGCAGCTCCTCAGCCAGGCTGCAGACCCCGTTTAACAGCAGTCCCAGCTGCAGGGAGGCTAGGTGGAGCACCAGGTACCGGAGAGTGTGCTCTGGTGGCTCTCCTAGCCCCCAAAGGGTCACCAGGCAGGCACTCAGCAGAACCAAGGCTGCCTTCTGGGCCCCGTGACCCCTGGGACACGGGATGGATGGATGCAGGCTGGAGTGGGGCATCTGTGGGCACCAAGAAATCCATGACCATTCTCCCCTTGCCCTCCTGCCCTTCTGGGACTGAGGCTCTGGCTGGGCACTTCCTCCCAGTTCCCCTTTCCCTGGTGCCCAGCCACTCCCAGAGGCTGCTCTTAGAGACACCTCTAGGAGGCAGGCTGGGAATAAGTCACCCCAAAGCTCCTGTCTCAGCGAGGTTTGCTGAAAACAGAGCAGGGCCTGCACATACACGCCCCACCAAGACCCAGGGAGACCACAGGTGTGGTGAAGAAAGAAGGCAGCAACTATCCCAGACCCAGACTTGAAGCTGTCCTGTGCAGCCGTACCCAACCAAGAACCCTTGGGGACCTGGGTTCCCCTGTCCCCGGAACCCACCCCAGGGAGGACCTTAGTCAACAAAGTGGAAAACAGAGCTCAGGGAGTGGGGACAGGGCAGCCAGCAGGCACCCCCTCGCCTCTGGGTGCCAGGGGCCCTAGGTTTGGCGTTCTGCCAGGCTGATCTTGAGCCTACCTTCTGCCTCCCGGACACTGGCTGCTCTGGATGATGACGAGGAGAGAAGGCCCGGCGCTACGAGCAGCCAAGGGCAGCTTCTCTGAGTGCAGCCTGAAAATGAGATGTTAACAACGATTGGTTTCTCCACAACACTCTAGCCCTGGCGTTTCTCCAAACCGCAGCTTTACTGGTGCTGGGAAGGAGGGTATTTCCTGTTCCTCAGGAAGGGAGGTAGGAACCTTCCCTCAAAGCCCTGATGAGCTGGGCCTGAGTCCTGGGGTCAGGGGTGAGGTTTGAGAAAGCCTCCATTCCATTGCCCTTTGCTACCCCCAAACCAAGGGTGTTTAGAAACACTCACCGCAGTCACAGCTCTGAACAGCGGGTTCCCCTCAAGCCACCACGATCAAACACACTGTACCTAACACCTGAGCAGGACTCCACACACTCAGCCAAAGGCAGCACACACATCACACGATGATTCCCCGTCTCATATTTTTCTTCTGGTTTCCAGGATGCAGATTCTTTTTCTGAAAAGTGTGACCTAGGAGGGAGGAGTGAAAAATGAACAGTTATTTCCGGTAACAAGAGCTATTTTTATAAAGCACTTGGTGGGAGAGGAGGGGCACAGAGGAATGGGGGTTTGGCTCTTTGCAGGAAATGGCCACGCCTGTGACTTCTCCAAGAGAGCCTGCCGGTTTCTGCC
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Task1_train_9546
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The following genetic variant occurs in STING1 (stimulator of interferon response cGAMP interactor 1) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; STING-associated vasculopathy with onset in infancy
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GGTGACATTTCCAGCATTCTCGTGTGCACAGAGGGAGGCCTCTAGCCCCAGATCAGTCTCCTAGCGGAAGCCCTAGGAGATAGCAATGAGATATGGAAGAGCTGCCGCTTTAGCCTGCAAGTCAGAAGAATAAAACACACAGGCTTAGGGCAGGCACAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACATTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCTAGCTATTCAAGAGGCTCAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCTTGTCACCACTGTACTCCAGGCTGGGTAACAGAAAGAGACTTCATCTCAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAAACACAGGCTCCACGGTGCAGTGGTCTAGGGTCCAGGCTCTGGACAAACCTGGGTTCAAATCCTTTCTCTTCCTCTCTCTAAGCTATGTGATATCGGATAAATCACTTTACCTCTCAGAACTGCACTTAAAAAAAAAGGCCAGGCACAGTGGCTCATGCCTATAGTTCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTACCCAACATGGTGAAACCCCGTCTGTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCACCTAAAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCACTGGAACCTGGGAAGCAGAAGTTGCAGTGAGCCCAGATTGTGCCACTCTACTTCAGCCCGGGTGAAAAAGTGAAACTCCATCTTAAAAAAAAAAAAAAATCTAAGGCTGGTGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTACTTGAGGTCAAGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCATGCCGGTGGCAGGGACCTGTAATTCCAGCTACTTGGGAGGCTGAACCCAGGAGGCAGAGGTCGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGTCTGCGCAACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAATCTAAAATAGGTATGGGCTTGGTGGCTCCTGCTTGTTATCTCGGCACTTTGGGAAGCCAAGGCAGGAGGATTGCTTGAGCCCAGGAGTTGAGACCAGGCTGGGTAACATAGCAAAACCCTCTTCTTTTTAAAAAATATATAAATAAAATAAAACAGGAATAAAGATTATTCCTTCCTCATAGGGTGTGAATTAGAAAAGGCACATGAGAGCACACAGCATGCAGTAAATATTTATTGAAAGAATTTACAGCTGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGTACCGGCCTGGCCAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTTGTGGTGGGTGCCTATAATCCCAGCTACTCGGGAACCTGAGCCAGGATAATCACTTGAACTTGGAAGGAGGAGGTTGCAGTAGCCGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGGGAGATTCCTTCTCAAAAAGAAAAAAAAAGAATTCACAAGTGACCTTGGGCAAGTCACTTAATGGCTCTAAGCCCCATATTCCTTTCTGCAAACTAGGCATCATAGCAACATCCTTCATGCCTTGGGATTAAAGGATTTGGTAGACATGAAAATGCTTTGAAAAATATAGTGAGTTCTGTGTGTTTAGAAACACAAGAGGCTGTGTGTCTTAGTGTCTGTTTTGTAGATCGAGAAATGGGGGCAGAGAGGATGGCCCACCTGGCAGGATCAGCCGCAGATATCCGATGTAATATGACCATGCCAGCCCATGGGCCACGTTGAAATTCCCTTTTTCACACACTGCAGAGATCTCAGCTGGGGCCAGGCCCTGTGGACAGCAGGATGTGGCTGGGGGGCCTCCATCAAGGACACCCAGAGAACTCCTCCTCCTCCTCCAAGGCTTCCCAACCTGCTCCTGACTTGATCCCTCTTTTGCCATTGCCAAACCCACTGTTCCAGGACATTATAGGTTCTACTCCATGGACTCCAGCCTTTAAACCAGTCCCACTCCCAGTACTCAGCTCAGGGCAGGTCACACCAGCCACAGCCACCACTTGGCCAGAGCTTCTACCTCCCCCTGTGTCATACCTTGAGGCCCAGGAGGATGTTCAGTGCCTGCGAGAGGCCCAGGAGGGCAAGCATCCAAGTGAAGGGCGGGCCGACCGCATTTGGGAGGGAGTAGTAGAAATAGATGGACAGCAGCAACAGGGCCCCACGGCGGAGGGGGCAGCCCAGGCAGGCCCGCACAGTCCTCCAGTAGCTGCCCCGGTACCTGTGAGTGACAGCCAGACCCCAGACCCCAGCCCCCAGCCCAGCTCAGCCAGAGAGGTTCAAGGAGGGGCAGGGCTAGGCATCAAGGGAGTGACACACGTTGGATACCCCGTCCCTGGGTACTGCAGTGAGTCACCTGGAGTGGATGTGGCGCAGCTCCTCAGCCAGGCTGCAGACCCCGTTTAACAGCAGTCCCAGCTGCAGGGAGGCTAGGTGGAGCACCAGGTACCGGAGAGTGTGCTCTGGTGGCTCTCCTAGCCCCCAAAGGGTCACCAGGCAGGCACTCAGCAGAACCAAGGCTGCCTTCTGGGCCCCGTGACCCCTGGGACACGGGATGGATGGATGCAGGCTGGAGTGGGGCATCTGTGGGCACCAAGAAATCCATGACCATTCTCCCCTTGCCCTCCTGCCCTTCTGGGACTGAGGCTCTGGCTGGGCACTTCCTCCCAGTTCCCCTTTCCCTGGTGCCCAGCCACTCCCAGAGGCTGCTCTTAGAGACACCTCTAGGAGGCAGGCTGGGAATAAGTCACCCCAAAGCTCCTGTCTCAGCGAGGTTTGCTGAAAACAGAGCAGGGCCTGCACATACACGCCCCACCAAGACCCAGGGAGACCACAGGTGTGGTGAAGAAAGAAGGCAGCAACTATCCCAGACCCAGACTTGAAGCTGTCCTGTGCAGCCGTACCCAACCAAGAACCCTTGGGGACCTGGGTTCCCCTGTCCCCGGAACCCACCCCAGGGAGGACCTTAGTCAACAAAGTGGAAAACAGAGCTCAGGGAGTGGGGACAGGGCAGCCAGCAGGCACCCCCTCGCCTCTGGGTGCCAGGGGCCCTAGGTTTGGCGTTCTGCCAGGCTGATCTTGAGCCTACCTTCTGCCTCCCGGACACTGGCTGCTCTGGATGATGACGAGGAGAGAAGGCCCGGCGCTACGAGCAGCCAAGGGCAGCTTCTCTGAGTGCAGCCTGAAAATGAGATGTTAACAACGATTGGTTTCTCCACAACACTCTAGCCCTGGCGTTTCTCCAAACCGCAGCTTTACTGGTGCTGGGAAGGAGGGTATTTCCTGTTCCTCAGGAAGGGAGGTAGGAACCTTCCCTCAAAGCCCTGATGAGCTGGGCCTGAGTCCTGGGGTCAGGGGTGAGGTTTGAGAAAGCCTCCATTCCATTGCCCTTTGCTACCCCCAAACCAAGGGTGTTTAGAAACACTCACCGCAGTCACAGCTCTGAACAGCGGGTTCCCCTCAAGCCACCACGATCAAACACACTGTACCTAACACCTGAGCAGGACTCCACACACTCAGCCAAAGGCAGCACACACATCACACGATGATTCCCCGTCTCATATTTTTCTTCTGGTTTCCAGGATGCAGATTCTTTTTCTGAAAAGTGTGACCTAGGAGGGAGGAGTGAAAAATGAACAGTTATTTCCGGTAACAAGAGCTATTTTTATAAAGCACTTGGTGGGAGAGGAGGGGCACAGAGGAATGGGGGTTTGGCTCTTTGCAGGAAATGGCCACGCCTGTGACTTCTCCAAGAGAGCCTGCCGGTTTCTGCCCA
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GGTGACATTTCCAGCATTCTCGTGTGCACAGAGGGAGGCCTCTAGCCCCAGATCAGTCTCCTAGCGGAAGCCCTAGGAGATAGCAATGAGATATGGAAGAGCTGCCGCTTTAGCCTGCAAGTCAGAAGAATAAAACACACAGGCTTAGGGCAGGCACAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACATTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCTAGCTATTCAAGAGGCTCAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCTTGTCACCACTGTACTCCAGGCTGGGTAACAGAAAGAGACTTCATCTCAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAAACACAGGCTCCACGGTGCAGTGGTCTAGGGTCCAGGCTCTGGACAAACCTGGGTTCAAATCCTTTCTCTTCCTCTCTCTAAGCTATGTGATATCGGATAAATCACTTTACCTCTCAGAACTGCACTTAAAAAAAAAGGCCAGGCACAGTGGCTCATGCCTATAGTTCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTACCCAACATGGTGAAACCCCGTCTGTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCACCTAAAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCACTGGAACCTGGGAAGCAGAAGTTGCAGTGAGCCCAGATTGTGCCACTCTACTTCAGCCCGGGTGAAAAAGTGAAACTCCATCTTAAAAAAAAAAAAAAATCTAAGGCTGGTGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTACTTGAGGTCAAGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCATGCCGGTGGCAGGGACCTGTAATTCCAGCTACTTGGGAGGCTGAACCCAGGAGGCAGAGGTCGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGTCTGCGCAACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAATCTAAAATAGGTATGGGCTTGGTGGCTCCTGCTTGTTATCTCGGCACTTTGGGAAGCCAAGGCAGGAGGATTGCTTGAGCCCAGGAGTTGAGACCAGGCTGGGTAACATAGCAAAACCCTCTTCTTTTTAAAAAATATATAAATAAAATAAAACAGGAATAAAGATTATTCCTTCCTCATAGGGTGTGAATTAGAAAAGGCACATGAGAGCACACAGCATGCAGTAAATATTTATTGAAAGAATTTACAGCTGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGTACCGGCCTGGCCAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTTGTGGTGGGTGCCTATAATCCCAGCTACTCGGGAACCTGAGCCAGGATAATCACTTGAACTTGGAAGGAGGAGGTTGCAGTAGCCGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGGGAGATTCCTTCTCAAAAAGAAAAAAAAAGAATTCACAAGTGACCTTGGGCAAGTCACTTAATGGCTCTAAGCCCCATATTCCTTTCTGCAAACTAGGCATCATAGCAACATCCTTCATGCCTTGGGATTAAAGGATTTGGTAGACATGAAAATGCTTTGAAAAATATAGTGAGTTCTGTGTGTTTAGAAACACAAGAGGCTGTGTGTCTTAGTGTCTGTTTTGTAGATCGAGAAATGGGGGCAGAGAGGATGGCCCACCTGGCAGGATCAGCCGCAGATATCCGATGTAATATGACCATGCCAGCCCATGGGCCACGCTGAAATTCCCTTTTTCACACACTGCAGAGATCTCAGCTGGGGCCAGGCCCTGTGGACAGCAGGATGTGGCTGGGGGGCCTCCATCAAGGACACCCAGAGAACTCCTCCTCCTCCTCCAAGGCTTCCCAACCTGCTCCTGACTTGATCCCTCTTTTGCCATTGCCAAACCCACTGTTCCAGGACATTATAGGTTCTACTCCATGGACTCCAGCCTTTAAACCAGTCCCACTCCCAGTACTCAGCTCAGGGCAGGTCACACCAGCCACAGCCACCACTTGGCCAGAGCTTCTACCTCCCCCTGTGTCATACCTTGAGGCCCAGGAGGATGTTCAGTGCCTGCGAGAGGCCCAGGAGGGCAAGCATCCAAGTGAAGGGCGGGCCGACCGCATTTGGGAGGGAGTAGTAGAAATAGATGGACAGCAGCAACAGGGCCCCACGGCGGAGGGGGCAGCCCAGGCAGGCCCGCACAGTCCTCCAGTAGCTGCCCCGGTACCTGTGAGTGACAGCCAGACCCCAGACCCCAGCCCCCAGCCCAGCTCAGCCAGAGAGGTTCAAGGAGGGGCAGGGCTAGGCATCAAGGGAGTGACACACGTTGGATACCCCGTCCCTGGGTACTGCAGTGAGTCACCTGGAGTGGATGTGGCGCAGCTCCTCAGCCAGGCTGCAGACCCCGTTTAACAGCAGTCCCAGCTGCAGGGAGGCTAGGTGGAGCACCAGGTACCGGAGAGTGTGCTCTGGTGGCTCTCCTAGCCCCCAAAGGGTCACCAGGCAGGCACTCAGCAGAACCAAGGCTGCCTTCTGGGCCCCGTGACCCCTGGGACACGGGATGGATGGATGCAGGCTGGAGTGGGGCATCTGTGGGCACCAAGAAATCCATGACCATTCTCCCCTTGCCCTCCTGCCCTTCTGGGACTGAGGCTCTGGCTGGGCACTTCCTCCCAGTTCCCCTTTCCCTGGTGCCCAGCCACTCCCAGAGGCTGCTCTTAGAGACACCTCTAGGAGGCAGGCTGGGAATAAGTCACCCCAAAGCTCCTGTCTCAGCGAGGTTTGCTGAAAACAGAGCAGGGCCTGCACATACACGCCCCACCAAGACCCAGGGAGACCACAGGTGTGGTGAAGAAAGAAGGCAGCAACTATCCCAGACCCAGACTTGAAGCTGTCCTGTGCAGCCGTACCCAACCAAGAACCCTTGGGGACCTGGGTTCCCCTGTCCCCGGAACCCACCCCAGGGAGGACCTTAGTCAACAAAGTGGAAAACAGAGCTCAGGGAGTGGGGACAGGGCAGCCAGCAGGCACCCCCTCGCCTCTGGGTGCCAGGGGCCCTAGGTTTGGCGTTCTGCCAGGCTGATCTTGAGCCTACCTTCTGCCTCCCGGACACTGGCTGCTCTGGATGATGACGAGGAGAGAAGGCCCGGCGCTACGAGCAGCCAAGGGCAGCTTCTCTGAGTGCAGCCTGAAAATGAGATGTTAACAACGATTGGTTTCTCCACAACACTCTAGCCCTGGCGTTTCTCCAAACCGCAGCTTTACTGGTGCTGGGAAGGAGGGTATTTCCTGTTCCTCAGGAAGGGAGGTAGGAACCTTCCCTCAAAGCCCTGATGAGCTGGGCCTGAGTCCTGGGGTCAGGGGTGAGGTTTGAGAAAGCCTCCATTCCATTGCCCTTTGCTACCCCCAAACCAAGGGTGTTTAGAAACACTCACCGCAGTCACAGCTCTGAACAGCGGGTTCCCCTCAAGCCACCACGATCAAACACACTGTACCTAACACCTGAGCAGGACTCCACACACTCAGCCAAAGGCAGCACACACATCACACGATGATTCCCCGTCTCATATTTTTCTTCTGGTTTCCAGGATGCAGATTCTTTTTCTGAAAAGTGTGACCTAGGAGGGAGGAGTGAAAAATGAACAGTTATTTCCGGTAACAAGAGCTATTTTTATAAAGCACTTGGTGGGAGAGGAGGGGCACAGAGGAATGGGGGTTTGGCTCTTTGCAGGAAATGGCCACGCCTGTGACTTCTCCAAGAGAGCCTGCCGGTTTCTGCCCA
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Task1_train_9547
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Consider this mutation in STING1 (stimulator of interferon response cGAMP interactor 1) on Chromosome 5. Is this a benign change or a disease-causing variant?
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Pathogenic; STING-associated vasculopathy with onset in infancy
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ACATTTCCAGCATTCTCGTGTGCACAGAGGGAGGCCTCTAGCCCCAGATCAGTCTCCTAGCGGAAGCCCTAGGAGATAGCAATGAGATATGGAAGAGCTGCCGCTTTAGCCTGCAAGTCAGAAGAATAAAACACACAGGCTTAGGGCAGGCACAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACATTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCTAGCTATTCAAGAGGCTCAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCTTGTCACCACTGTACTCCAGGCTGGGTAACAGAAAGAGACTTCATCTCAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAAACACAGGCTCCACGGTGCAGTGGTCTAGGGTCCAGGCTCTGGACAAACCTGGGTTCAAATCCTTTCTCTTCCTCTCTCTAAGCTATGTGATATCGGATAAATCACTTTACCTCTCAGAACTGCACTTAAAAAAAAAGGCCAGGCACAGTGGCTCATGCCTATAGTTCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTACCCAACATGGTGAAACCCCGTCTGTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCACCTAAAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCACTGGAACCTGGGAAGCAGAAGTTGCAGTGAGCCCAGATTGTGCCACTCTACTTCAGCCCGGGTGAAAAAGTGAAACTCCATCTTAAAAAAAAAAAAAAATCTAAGGCTGGTGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTACTTGAGGTCAAGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCATGCCGGTGGCAGGGACCTGTAATTCCAGCTACTTGGGAGGCTGAACCCAGGAGGCAGAGGTCGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGTCTGCGCAACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAATCTAAAATAGGTATGGGCTTGGTGGCTCCTGCTTGTTATCTCGGCACTTTGGGAAGCCAAGGCAGGAGGATTGCTTGAGCCCAGGAGTTGAGACCAGGCTGGGTAACATAGCAAAACCCTCTTCTTTTTAAAAAATATATAAATAAAATAAAACAGGAATAAAGATTATTCCTTCCTCATAGGGTGTGAATTAGAAAAGGCACATGAGAGCACACAGCATGCAGTAAATATTTATTGAAAGAATTTACAGCTGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGTACCGGCCTGGCCAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTTGTGGTGGGTGCCTATAATCCCAGCTACTCGGGAACCTGAGCCAGGATAATCACTTGAACTTGGAAGGAGGAGGTTGCAGTAGCCGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGGGAGATTCCTTCTCAAAAAGAAAAAAAAAGAATTCACAAGTGACCTTGGGCAAGTCACTTAATGGCTCTAAGCCCCATATTCCTTTCTGCAAACTAGGCATCATAGCAACATCCTTCATGCCTTGGGATTAAAGGATTTGGTAGACATGAAAATGCTTTGAAAAATATAGTGAGTTCTGTGTGTTTAGAAACACAAGAGGCTGTGTGTCTTAGTGTCTGTTTTGTAGATCGAGAAATGGGGGCAGAGAGGATGGCCCACCTGGCAGGATCAGCCGCAGATATCCGATGTAATATGACCATGCCAGCCCATGGGCCACGTTGAAATTCCCTTTTTCACACACTGCAGAGATCTCAGCTGGGGCCAGGCCCTGTGGACAGCAGGATGTGGCTGGGGGGCCTCCATCAAGGACACCCAGAGAACTCCTCCTCCTCCTCCAAGGCTTCCCAACCTGCTCCTGACTTGATCCCTCTTTTGCCATTGCCAAACCCACTGTTCCAGGACATTATAGGTTCTACTCCATGGACTCCAGCCTTTAAACCAGTCCCACTCCCAGTACTCAGCTCAGGGCAGGTCACACCAGCCACAGCCACCACTTGGCCAGAGCTTCTACCTCCCCCTGTGTCATACCTTGAGGCCCAGGAGGATGTTCAGTGCCTGCGAGAGGCCCAGGAGGGCAAGCATCCAAGTGAAGGGCGGGCCGACCGCATTTGGGAGGGAGTAGTAGAAATAGATGGACAGCAGCAACAGGGCCCCACGGCGGAGGGGGCAGCCCAGGCAGGCCCGCACAGTCCTCCAGTAGCTGCCCCGGTACCTGTGAGTGACAGCCAGACCCCAGACCCCAGCCCCCAGCCCAGCTCAGCCAGAGAGGTTCAAGGAGGGGCAGGGCTAGGCATCAAGGGAGTGACACACGTTGGATACCCCGTCCCTGGGTACTGCAGTGAGTCACCTGGAGTGGATGTGGCGCAGCTCCTCAGCCAGGCTGCAGACCCCGTTTAACAGCAGTCCCAGCTGCAGGGAGGCTAGGTGGAGCACCAGGTACCGGAGAGTGTGCTCTGGTGGCTCTCCTAGCCCCCAAAGGGTCACCAGGCAGGCACTCAGCAGAACCAAGGCTGCCTTCTGGGCCCCGTGACCCCTGGGACACGGGATGGATGGATGCAGGCTGGAGTGGGGCATCTGTGGGCACCAAGAAATCCATGACCATTCTCCCCTTGCCCTCCTGCCCTTCTGGGACTGAGGCTCTGGCTGGGCACTTCCTCCCAGTTCCCCTTTCCCTGGTGCCCAGCCACTCCCAGAGGCTGCTCTTAGAGACACCTCTAGGAGGCAGGCTGGGAATAAGTCACCCCAAAGCTCCTGTCTCAGCGAGGTTTGCTGAAAACAGAGCAGGGCCTGCACATACACGCCCCACCAAGACCCAGGGAGACCACAGGTGTGGTGAAGAAAGAAGGCAGCAACTATCCCAGACCCAGACTTGAAGCTGTCCTGTGCAGCCGTACCCAACCAAGAACCCTTGGGGACCTGGGTTCCCCTGTCCCCGGAACCCACCCCAGGGAGGACCTTAGTCAACAAAGTGGAAAACAGAGCTCAGGGAGTGGGGACAGGGCAGCCAGCAGGCACCCCCTCGCCTCTGGGTGCCAGGGGCCCTAGGTTTGGCGTTCTGCCAGGCTGATCTTGAGCCTACCTTCTGCCTCCCGGACACTGGCTGCTCTGGATGATGACGAGGAGAGAAGGCCCGGCGCTACGAGCAGCCAAGGGCAGCTTCTCTGAGTGCAGCCTGAAAATGAGATGTTAACAACGATTGGTTTCTCCACAACACTCTAGCCCTGGCGTTTCTCCAAACCGCAGCTTTACTGGTGCTGGGAAGGAGGGTATTTCCTGTTCCTCAGGAAGGGAGGTAGGAACCTTCCCTCAAAGCCCTGATGAGCTGGGCCTGAGTCCTGGGGTCAGGGGTGAGGTTTGAGAAAGCCTCCATTCCATTGCCCTTTGCTACCCCCAAACCAAGGGTGTTTAGAAACACTCACCGCAGTCACAGCTCTGAACAGCGGGTTCCCCTCAAGCCACCACGATCAAACACACTGTACCTAACACCTGAGCAGGACTCCACACACTCAGCCAAAGGCAGCACACACATCACACGATGATTCCCCGTCTCATATTTTTCTTCTGGTTTCCAGGATGCAGATTCTTTTTCTGAAAAGTGTGACCTAGGAGGGAGGAGTGAAAAATGAACAGTTATTTCCGGTAACAAGAGCTATTTTTATAAAGCACTTGGTGGGAGAGGAGGGGCACAGAGGAATGGGGGTTTGGCTCTTTGCAGGAAATGGCCACGCCTGTGACTTCTCCAAGAGAGCCTGCCGGTTTCTGCCCAGAAG
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ACATTTCCAGCATTCTCGTGTGCACAGAGGGAGGCCTCTAGCCCCAGATCAGTCTCCTAGCGGAAGCCCTAGGAGATAGCAATGAGATATGGAAGAGCTGCCGCTTTAGCCTGCAAGTCAGAAGAATAAAACACACAGGCTTAGGGCAGGCACAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACATTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCTAGCTATTCAAGAGGCTCAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCTTGTCACCACTGTACTCCAGGCTGGGTAACAGAAAGAGACTTCATCTCAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAAACACAGGCTCCACGGTGCAGTGGTCTAGGGTCCAGGCTCTGGACAAACCTGGGTTCAAATCCTTTCTCTTCCTCTCTCTAAGCTATGTGATATCGGATAAATCACTTTACCTCTCAGAACTGCACTTAAAAAAAAAGGCCAGGCACAGTGGCTCATGCCTATAGTTCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTACCCAACATGGTGAAACCCCGTCTGTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCACCTAAAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCACTGGAACCTGGGAAGCAGAAGTTGCAGTGAGCCCAGATTGTGCCACTCTACTTCAGCCCGGGTGAAAAAGTGAAACTCCATCTTAAAAAAAAAAAAAAATCTAAGGCTGGTGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTACTTGAGGTCAAGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCATGCCGGTGGCAGGGACCTGTAATTCCAGCTACTTGGGAGGCTGAACCCAGGAGGCAGAGGTCGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGTCTGCGCAACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAATCTAAAATAGGTATGGGCTTGGTGGCTCCTGCTTGTTATCTCGGCACTTTGGGAAGCCAAGGCAGGAGGATTGCTTGAGCCCAGGAGTTGAGACCAGGCTGGGTAACATAGCAAAACCCTCTTCTTTTTAAAAAATATATAAATAAAATAAAACAGGAATAAAGATTATTCCTTCCTCATAGGGTGTGAATTAGAAAAGGCACATGAGAGCACACAGCATGCAGTAAATATTTATTGAAAGAATTTACAGCTGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGTACCGGCCTGGCCAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTTGTGGTGGGTGCCTATAATCCCAGCTACTCGGGAACCTGAGCCAGGATAATCACTTGAACTTGGAAGGAGGAGGTTGCAGTAGCCGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGGGAGATTCCTTCTCAAAAAGAAAAAAAAAGAATTCACAAGTGACCTTGGGCAAGTCACTTAATGGCTCTAAGCCCCATATTCCTTTCTGCAAACTAGGCATCATAGCAACATCCTTCATGCCTTGGGATTAAAGGATTTGGTAGACATGAAAATGCTTTGAAAAATATAGTGAGTTCTGTGTGTTTAGAAACACAAGAGGCTGTGTGTCTTAGTGTCTGTTTTGTAGATCGAGAAATGGGGGCAGAGAGGATGGCCCACCTGGCAGGATCAGCCGCAGATATCCGATGTAATATGACCATGCCAGCCCATGGGCCACGTTGATATTCCCTTTTTCACACACTGCAGAGATCTCAGCTGGGGCCAGGCCCTGTGGACAGCAGGATGTGGCTGGGGGGCCTCCATCAAGGACACCCAGAGAACTCCTCCTCCTCCTCCAAGGCTTCCCAACCTGCTCCTGACTTGATCCCTCTTTTGCCATTGCCAAACCCACTGTTCCAGGACATTATAGGTTCTACTCCATGGACTCCAGCCTTTAAACCAGTCCCACTCCCAGTACTCAGCTCAGGGCAGGTCACACCAGCCACAGCCACCACTTGGCCAGAGCTTCTACCTCCCCCTGTGTCATACCTTGAGGCCCAGGAGGATGTTCAGTGCCTGCGAGAGGCCCAGGAGGGCAAGCATCCAAGTGAAGGGCGGGCCGACCGCATTTGGGAGGGAGTAGTAGAAATAGATGGACAGCAGCAACAGGGCCCCACGGCGGAGGGGGCAGCCCAGGCAGGCCCGCACAGTCCTCCAGTAGCTGCCCCGGTACCTGTGAGTGACAGCCAGACCCCAGACCCCAGCCCCCAGCCCAGCTCAGCCAGAGAGGTTCAAGGAGGGGCAGGGCTAGGCATCAAGGGAGTGACACACGTTGGATACCCCGTCCCTGGGTACTGCAGTGAGTCACCTGGAGTGGATGTGGCGCAGCTCCTCAGCCAGGCTGCAGACCCCGTTTAACAGCAGTCCCAGCTGCAGGGAGGCTAGGTGGAGCACCAGGTACCGGAGAGTGTGCTCTGGTGGCTCTCCTAGCCCCCAAAGGGTCACCAGGCAGGCACTCAGCAGAACCAAGGCTGCCTTCTGGGCCCCGTGACCCCTGGGACACGGGATGGATGGATGCAGGCTGGAGTGGGGCATCTGTGGGCACCAAGAAATCCATGACCATTCTCCCCTTGCCCTCCTGCCCTTCTGGGACTGAGGCTCTGGCTGGGCACTTCCTCCCAGTTCCCCTTTCCCTGGTGCCCAGCCACTCCCAGAGGCTGCTCTTAGAGACACCTCTAGGAGGCAGGCTGGGAATAAGTCACCCCAAAGCTCCTGTCTCAGCGAGGTTTGCTGAAAACAGAGCAGGGCCTGCACATACACGCCCCACCAAGACCCAGGGAGACCACAGGTGTGGTGAAGAAAGAAGGCAGCAACTATCCCAGACCCAGACTTGAAGCTGTCCTGTGCAGCCGTACCCAACCAAGAACCCTTGGGGACCTGGGTTCCCCTGTCCCCGGAACCCACCCCAGGGAGGACCTTAGTCAACAAAGTGGAAAACAGAGCTCAGGGAGTGGGGACAGGGCAGCCAGCAGGCACCCCCTCGCCTCTGGGTGCCAGGGGCCCTAGGTTTGGCGTTCTGCCAGGCTGATCTTGAGCCTACCTTCTGCCTCCCGGACACTGGCTGCTCTGGATGATGACGAGGAGAGAAGGCCCGGCGCTACGAGCAGCCAAGGGCAGCTTCTCTGAGTGCAGCCTGAAAATGAGATGTTAACAACGATTGGTTTCTCCACAACACTCTAGCCCTGGCGTTTCTCCAAACCGCAGCTTTACTGGTGCTGGGAAGGAGGGTATTTCCTGTTCCTCAGGAAGGGAGGTAGGAACCTTCCCTCAAAGCCCTGATGAGCTGGGCCTGAGTCCTGGGGTCAGGGGTGAGGTTTGAGAAAGCCTCCATTCCATTGCCCTTTGCTACCCCCAAACCAAGGGTGTTTAGAAACACTCACCGCAGTCACAGCTCTGAACAGCGGGTTCCCCTCAAGCCACCACGATCAAACACACTGTACCTAACACCTGAGCAGGACTCCACACACTCAGCCAAAGGCAGCACACACATCACACGATGATTCCCCGTCTCATATTTTTCTTCTGGTTTCCAGGATGCAGATTCTTTTTCTGAAAAGTGTGACCTAGGAGGGAGGAGTGAAAAATGAACAGTTATTTCCGGTAACAAGAGCTATTTTTATAAAGCACTTGGTGGGAGAGGAGGGGCACAGAGGAATGGGGGTTTGGCTCTTTGCAGGAAATGGCCACGCCTGTGACTTCTCCAAGAGAGCCTGCCGGTTTCTGCCCAGAAG
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Task1_train_9548
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With a mutation on Chromosome 5 in gene STING1 (stimulator of interferon response cGAMP interactor 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; STING-associated vasculopathy with onset in infancy
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TGTGCACAGAGGGAGGCCTCTAGCCCCAGATCAGTCTCCTAGCGGAAGCCCTAGGAGATAGCAATGAGATATGGAAGAGCTGCCGCTTTAGCCTGCAAGTCAGAAGAATAAAACACACAGGCTTAGGGCAGGCACAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACATTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCTAGCTATTCAAGAGGCTCAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCTTGTCACCACTGTACTCCAGGCTGGGTAACAGAAAGAGACTTCATCTCAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAAACACAGGCTCCACGGTGCAGTGGTCTAGGGTCCAGGCTCTGGACAAACCTGGGTTCAAATCCTTTCTCTTCCTCTCTCTAAGCTATGTGATATCGGATAAATCACTTTACCTCTCAGAACTGCACTTAAAAAAAAAGGCCAGGCACAGTGGCTCATGCCTATAGTTCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTACCCAACATGGTGAAACCCCGTCTGTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCACCTAAAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCACTGGAACCTGGGAAGCAGAAGTTGCAGTGAGCCCAGATTGTGCCACTCTACTTCAGCCCGGGTGAAAAAGTGAAACTCCATCTTAAAAAAAAAAAAAAATCTAAGGCTGGTGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTACTTGAGGTCAAGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCATGCCGGTGGCAGGGACCTGTAATTCCAGCTACTTGGGAGGCTGAACCCAGGAGGCAGAGGTCGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGTCTGCGCAACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAATCTAAAATAGGTATGGGCTTGGTGGCTCCTGCTTGTTATCTCGGCACTTTGGGAAGCCAAGGCAGGAGGATTGCTTGAGCCCAGGAGTTGAGACCAGGCTGGGTAACATAGCAAAACCCTCTTCTTTTTAAAAAATATATAAATAAAATAAAACAGGAATAAAGATTATTCCTTCCTCATAGGGTGTGAATTAGAAAAGGCACATGAGAGCACACAGCATGCAGTAAATATTTATTGAAAGAATTTACAGCTGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGTACCGGCCTGGCCAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTTGTGGTGGGTGCCTATAATCCCAGCTACTCGGGAACCTGAGCCAGGATAATCACTTGAACTTGGAAGGAGGAGGTTGCAGTAGCCGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGGGAGATTCCTTCTCAAAAAGAAAAAAAAAGAATTCACAAGTGACCTTGGGCAAGTCACTTAATGGCTCTAAGCCCCATATTCCTTTCTGCAAACTAGGCATCATAGCAACATCCTTCATGCCTTGGGATTAAAGGATTTGGTAGACATGAAAATGCTTTGAAAAATATAGTGAGTTCTGTGTGTTTAGAAACACAAGAGGCTGTGTGTCTTAGTGTCTGTTTTGTAGATCGAGAAATGGGGGCAGAGAGGATGGCCCACCTGGCAGGATCAGCCGCAGATATCCGATGTAATATGACCATGCCAGCCCATGGGCCACGTTGAAATTCCCTTTTTCACACACTGCAGAGATCTCAGCTGGGGCCAGGCCCTGTGGACAGCAGGATGTGGCTGGGGGGCCTCCATCAAGGACACCCAGAGAACTCCTCCTCCTCCTCCAAGGCTTCCCAACCTGCTCCTGACTTGATCCCTCTTTTGCCATTGCCAAACCCACTGTTCCAGGACATTATAGGTTCTACTCCATGGACTCCAGCCTTTAAACCAGTCCCACTCCCAGTACTCAGCTCAGGGCAGGTCACACCAGCCACAGCCACCACTTGGCCAGAGCTTCTACCTCCCCCTGTGTCATACCTTGAGGCCCAGGAGGATGTTCAGTGCCTGCGAGAGGCCCAGGAGGGCAAGCATCCAAGTGAAGGGCGGGCCGACCGCATTTGGGAGGGAGTAGTAGAAATAGATGGACAGCAGCAACAGGGCCCCACGGCGGAGGGGGCAGCCCAGGCAGGCCCGCACAGTCCTCCAGTAGCTGCCCCGGTACCTGTGAGTGACAGCCAGACCCCAGACCCCAGCCCCCAGCCCAGCTCAGCCAGAGAGGTTCAAGGAGGGGCAGGGCTAGGCATCAAGGGAGTGACACACGTTGGATACCCCGTCCCTGGGTACTGCAGTGAGTCACCTGGAGTGGATGTGGCGCAGCTCCTCAGCCAGGCTGCAGACCCCGTTTAACAGCAGTCCCAGCTGCAGGGAGGCTAGGTGGAGCACCAGGTACCGGAGAGTGTGCTCTGGTGGCTCTCCTAGCCCCCAAAGGGTCACCAGGCAGGCACTCAGCAGAACCAAGGCTGCCTTCTGGGCCCCGTGACCCCTGGGACACGGGATGGATGGATGCAGGCTGGAGTGGGGCATCTGTGGGCACCAAGAAATCCATGACCATTCTCCCCTTGCCCTCCTGCCCTTCTGGGACTGAGGCTCTGGCTGGGCACTTCCTCCCAGTTCCCCTTTCCCTGGTGCCCAGCCACTCCCAGAGGCTGCTCTTAGAGACACCTCTAGGAGGCAGGCTGGGAATAAGTCACCCCAAAGCTCCTGTCTCAGCGAGGTTTGCTGAAAACAGAGCAGGGCCTGCACATACACGCCCCACCAAGACCCAGGGAGACCACAGGTGTGGTGAAGAAAGAAGGCAGCAACTATCCCAGACCCAGACTTGAAGCTGTCCTGTGCAGCCGTACCCAACCAAGAACCCTTGGGGACCTGGGTTCCCCTGTCCCCGGAACCCACCCCAGGGAGGACCTTAGTCAACAAAGTGGAAAACAGAGCTCAGGGAGTGGGGACAGGGCAGCCAGCAGGCACCCCCTCGCCTCTGGGTGCCAGGGGCCCTAGGTTTGGCGTTCTGCCAGGCTGATCTTGAGCCTACCTTCTGCCTCCCGGACACTGGCTGCTCTGGATGATGACGAGGAGAGAAGGCCCGGCGCTACGAGCAGCCAAGGGCAGCTTCTCTGAGTGCAGCCTGAAAATGAGATGTTAACAACGATTGGTTTCTCCACAACACTCTAGCCCTGGCGTTTCTCCAAACCGCAGCTTTACTGGTGCTGGGAAGGAGGGTATTTCCTGTTCCTCAGGAAGGGAGGTAGGAACCTTCCCTCAAAGCCCTGATGAGCTGGGCCTGAGTCCTGGGGTCAGGGGTGAGGTTTGAGAAAGCCTCCATTCCATTGCCCTTTGCTACCCCCAAACCAAGGGTGTTTAGAAACACTCACCGCAGTCACAGCTCTGAACAGCGGGTTCCCCTCAAGCCACCACGATCAAACACACTGTACCTAACACCTGAGCAGGACTCCACACACTCAGCCAAAGGCAGCACACACATCACACGATGATTCCCCGTCTCATATTTTTCTTCTGGTTTCCAGGATGCAGATTCTTTTTCTGAAAAGTGTGACCTAGGAGGGAGGAGTGAAAAATGAACAGTTATTTCCGGTAACAAGAGCTATTTTTATAAAGCACTTGGTGGGAGAGGAGGGGCACAGAGGAATGGGGGTTTGGCTCTTTGCAGGAAATGGCCACGCCTGTGACTTCTCCAAGAGAGCCTGCCGGTTTCTGCCCAGAAGGCGGTTGTGGGGATGATA
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TGTGCACAGAGGGAGGCCTCTAGCCCCAGATCAGTCTCCTAGCGGAAGCCCTAGGAGATAGCAATGAGATATGGAAGAGCTGCCGCTTTAGCCTGCAAGTCAGAAGAATAAAACACACAGGCTTAGGGCAGGCACAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACATTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCTAGCTATTCAAGAGGCTCAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCTTGTCACCACTGTACTCCAGGCTGGGTAACAGAAAGAGACTTCATCTCAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAAACACAGGCTCCACGGTGCAGTGGTCTAGGGTCCAGGCTCTGGACAAACCTGGGTTCAAATCCTTTCTCTTCCTCTCTCTAAGCTATGTGATATCGGATAAATCACTTTACCTCTCAGAACTGCACTTAAAAAAAAAGGCCAGGCACAGTGGCTCATGCCTATAGTTCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTACCCAACATGGTGAAACCCCGTCTGTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCACCTAAAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCACTGGAACCTGGGAAGCAGAAGTTGCAGTGAGCCCAGATTGTGCCACTCTACTTCAGCCCGGGTGAAAAAGTGAAACTCCATCTTAAAAAAAAAAAAAAATCTAAGGCTGGTGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTACTTGAGGTCAAGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCATGCCGGTGGCAGGGACCTGTAATTCCAGCTACTTGGGAGGCTGAACCCAGGAGGCAGAGGTCGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGTCTGCGCAACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAATCTAAAATAGGTATGGGCTTGGTGGCTCCTGCTTGTTATCTCGGCACTTTGGGAAGCCAAGGCAGGAGGATTGCTTGAGCCCAGGAGTTGAGACCAGGCTGGGTAACATAGCAAAACCCTCTTCTTTTTAAAAAATATATAAATAAAATAAAACAGGAATAAAGATTATTCCTTCCTCATAGGGTGTGAATTAGAAAAGGCACATGAGAGCACACAGCATGCAGTAAATATTTATTGAAAGAATTTACAGCTGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGTACCGGCCTGGCCAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTTGTGGTGGGTGCCTATAATCCCAGCTACTCGGGAACCTGAGCCAGGATAATCACTTGAACTTGGAAGGAGGAGGTTGCAGTAGCCGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGGGAGATTCCTTCTCAAAAAGAAAAAAAAAGAATTCACAAGTGACCTTGGGCAAGTCACTTAATGGCTCTAAGCCCCATATTCCTTTCTGCAAACTAGGCATCATAGCAACATCCTTCATGCCTTGGGATTAAAGGATTTGGTAGACATGAAAATGCTTTGAAAAATATAGTGAGTTCTGTGTGTTTAGAAACACAAGAGGCTGTGTGTCTTAGTGTCTGTTTTGTAGATCGAGAAATGGGGGCAGAGAGGATGGCCCACCTGGCAGGATCAGCCGCAGATATCCGATGTAATATGACCATGCCAGCCCATGGGCCACGTTGAAATTCCCTTTTTCACACAGTGCAGAGATCTCAGCTGGGGCCAGGCCCTGTGGACAGCAGGATGTGGCTGGGGGGCCTCCATCAAGGACACCCAGAGAACTCCTCCTCCTCCTCCAAGGCTTCCCAACCTGCTCCTGACTTGATCCCTCTTTTGCCATTGCCAAACCCACTGTTCCAGGACATTATAGGTTCTACTCCATGGACTCCAGCCTTTAAACCAGTCCCACTCCCAGTACTCAGCTCAGGGCAGGTCACACCAGCCACAGCCACCACTTGGCCAGAGCTTCTACCTCCCCCTGTGTCATACCTTGAGGCCCAGGAGGATGTTCAGTGCCTGCGAGAGGCCCAGGAGGGCAAGCATCCAAGTGAAGGGCGGGCCGACCGCATTTGGGAGGGAGTAGTAGAAATAGATGGACAGCAGCAACAGGGCCCCACGGCGGAGGGGGCAGCCCAGGCAGGCCCGCACAGTCCTCCAGTAGCTGCCCCGGTACCTGTGAGTGACAGCCAGACCCCAGACCCCAGCCCCCAGCCCAGCTCAGCCAGAGAGGTTCAAGGAGGGGCAGGGCTAGGCATCAAGGGAGTGACACACGTTGGATACCCCGTCCCTGGGTACTGCAGTGAGTCACCTGGAGTGGATGTGGCGCAGCTCCTCAGCCAGGCTGCAGACCCCGTTTAACAGCAGTCCCAGCTGCAGGGAGGCTAGGTGGAGCACCAGGTACCGGAGAGTGTGCTCTGGTGGCTCTCCTAGCCCCCAAAGGGTCACCAGGCAGGCACTCAGCAGAACCAAGGCTGCCTTCTGGGCCCCGTGACCCCTGGGACACGGGATGGATGGATGCAGGCTGGAGTGGGGCATCTGTGGGCACCAAGAAATCCATGACCATTCTCCCCTTGCCCTCCTGCCCTTCTGGGACTGAGGCTCTGGCTGGGCACTTCCTCCCAGTTCCCCTTTCCCTGGTGCCCAGCCACTCCCAGAGGCTGCTCTTAGAGACACCTCTAGGAGGCAGGCTGGGAATAAGTCACCCCAAAGCTCCTGTCTCAGCGAGGTTTGCTGAAAACAGAGCAGGGCCTGCACATACACGCCCCACCAAGACCCAGGGAGACCACAGGTGTGGTGAAGAAAGAAGGCAGCAACTATCCCAGACCCAGACTTGAAGCTGTCCTGTGCAGCCGTACCCAACCAAGAACCCTTGGGGACCTGGGTTCCCCTGTCCCCGGAACCCACCCCAGGGAGGACCTTAGTCAACAAAGTGGAAAACAGAGCTCAGGGAGTGGGGACAGGGCAGCCAGCAGGCACCCCCTCGCCTCTGGGTGCCAGGGGCCCTAGGTTTGGCGTTCTGCCAGGCTGATCTTGAGCCTACCTTCTGCCTCCCGGACACTGGCTGCTCTGGATGATGACGAGGAGAGAAGGCCCGGCGCTACGAGCAGCCAAGGGCAGCTTCTCTGAGTGCAGCCTGAAAATGAGATGTTAACAACGATTGGTTTCTCCACAACACTCTAGCCCTGGCGTTTCTCCAAACCGCAGCTTTACTGGTGCTGGGAAGGAGGGTATTTCCTGTTCCTCAGGAAGGGAGGTAGGAACCTTCCCTCAAAGCCCTGATGAGCTGGGCCTGAGTCCTGGGGTCAGGGGTGAGGTTTGAGAAAGCCTCCATTCCATTGCCCTTTGCTACCCCCAAACCAAGGGTGTTTAGAAACACTCACCGCAGTCACAGCTCTGAACAGCGGGTTCCCCTCAAGCCACCACGATCAAACACACTGTACCTAACACCTGAGCAGGACTCCACACACTCAGCCAAAGGCAGCACACACATCACACGATGATTCCCCGTCTCATATTTTTCTTCTGGTTTCCAGGATGCAGATTCTTTTTCTGAAAAGTGTGACCTAGGAGGGAGGAGTGAAAAATGAACAGTTATTTCCGGTAACAAGAGCTATTTTTATAAAGCACTTGGTGGGAGAGGAGGGGCACAGAGGAATGGGGGTTTGGCTCTTTGCAGGAAATGGCCACGCCTGTGACTTCTCCAAGAGAGCCTGCCGGTTTCTGCCCAGAAGGCGGTTGTGGGGATGATA
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Task1_train_9549
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The gene PURA (purine rich element binding protein A) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
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CAGGAATCAGCAAGGCTTATTCCCTAGCCTGCTCTTGGTTTCTTGATCGTTAGTCCACTCTTTTCTAGGAAGCTGGGCAATCATATTCCCAGTTGTCCCTCGGGCTAAGAGTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGA
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CAGGAATCAGCAAGGCTTATTCCCTAGCCTGCTCTTGGTTTCTTGATCGTTAGTCCACTCTTTTCTAGGAAGCTGGGCAATCATATTCCCAGTTGTCCCTCGGGCTAAGAGTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCTTGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGA
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Task1_train_9550
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This is a variant in PURA (purine rich element binding protein A), located on Chromosome 5. Is this mutation a likely cause of disease or not?
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Pathogenic; PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
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GGAATCAGCAAGGCTTATTCCCTAGCCTGCTCTTGGTTTCTTGATCGTTAGTCCACTCTTTTCTAGGAAGCTGGGCAATCATATTCCCAGTTGTCCCTCGGGCTAAGAGTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGT
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GGAATCAGCAAGGCTTATTCCCTAGCCTGCTCTTGGTTTCTTGATCGTTAGTCCACTCTTTTCTAGGAAGCTGGGCAATCATATTCCCAGTTGTCCCTCGGGCTAAGAGTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATAGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGT
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Task1_train_9551
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Given this context: Chromosome 5, gene PURA (purine rich element binding protein A) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; not provided
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GATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTA
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GATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGAGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTA
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Task1_train_9552
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Assess the clinical impact of this variant on gene PURA (purine rich element binding protein A), found on Chromosome 5. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
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CTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTT
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CTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCGTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTT
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Task1_train_9553
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A mutation on Chromosome 5 affecting PURA (purine rich element binding protein A) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
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TGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTG
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TGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCGGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTG
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Task1_train_9554
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This variant impacts the gene PURA (purine rich element binding protein A) on Chromosome 5. Is the change likely to result in a pathogenic outcome?
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Pathogenic; PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
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GCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTA
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GCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCCCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTA
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Task1_train_9555
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Here’s a variant in PURA (purine rich element binding protein A) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; not provided
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AGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTT
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AGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACGAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTT
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Task1_train_9556
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Mutation context: Chromosome 5, Gene PURA (purine rich element binding protein A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; not provided
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GGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATT
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GGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCGCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATT
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Task1_train_9557
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An alteration has been detected in PURA (purine rich element binding protein A) on Chromosome 5. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Global developmental delay
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CCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATAT
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CCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACAAGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATAT
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Task1_train_9558
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Here is a mutation in PURA (purine rich element binding protein A) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Intellectual disability
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CCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATAT
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CCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACAAGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATAT
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Task1_train_9559
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A variant on Chromosome 5 in gene PURA (purine rich element binding protein 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; Neonatal hypotonia
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CCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATAT
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CCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACAAGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATAT
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Task1_train_9560
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Here’s a variant in PURA (purine rich element binding protein A) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Delayed speech and language development
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CCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATAT
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CCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACAAGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATAT
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Task1_train_9561
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Gene PURA (purine rich element binding protein A), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; not provided
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CCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATATTAATATAT
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CCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCCAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATATTAATATAT
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Task1_train_9562
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This genomic variant is located on Chromosome 5, within the PURA (purine rich element binding protein A) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
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GATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATATTAATATATTTTTATCATTAAACT
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GATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCTGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATATTAATATATTTTTATCATTAAACT
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Task1_train_9563
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Gene PURA (purine rich element binding protein A), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Inborn genetic diseases
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TATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATATTAATATATTTTTATCATTAAACTGCTGCATGACTAT
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TATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCCCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATATTAATATATTTTTATCATTAAACTGCTGCATGACTAT
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Task1_train_9564
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Mutation context: Chromosome 5, Gene PURA (purine rich element binding protein A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
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CGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATATTAATATATTTTTATCATTAAACTGCTGCATGACTATCATCTT
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CGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCCCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATATTAATATATTTTTATCATTAAACTGCTGCATGACTATCATCTT
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Task1_train_9565
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This genomic variant is located on Chromosome 5, within the PURA (purine rich element binding protein A) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
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CACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATATTAATATATTTTTATCATTAAACTGCTGCATGACTATCATCTTTGAGTGAAGAGAAAATGTTATAAAAAAGATGCCTTAAACAGTACATTTTGGTTTGGAATTCTGTAGAAAGTATTTTGGTAAAAAAAAAAAAAAAAAAAAAGGGT
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CACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCTTCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATATTAATATATTTTTATCATTAAACTGCTGCATGACTATCATCTTTGAGTGAAGAGAAAATGTTATAAAAAAGATGCCTTAAACAGTACATTTTGGTTTGGAATTCTGTAGAAAGTATTTTGGTAAAAAAAAAAAAAAAAAAAAAGGGT
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Task1_train_9566
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A variant on Chromosome 5 in gene PURA (purine rich element binding protein 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; Inborn genetic diseases
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AAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATATTAATATATTTTTATCATTAAACTGCTGCATGACTATCATCTTTGAGTGAAGAGAAAATGTTATAAAAAAGATGCCTTAAACAGTACATTTTGGTTTGGAATTCTGTAGAAAGTATTTTGGTAAAAAAAAAAAAAAAAAAAAAGGGTCTTGTCTGACAGAGAGTTCTGGGGATGGAATTGTTTCTTGGCAAATCCAGCCATATAGATCTAACTGCTGTATGTA
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AAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGGGAGCGGGATCATCTGAGGCCAGAGCCACTGCCGTGTGTGCGGGGAGGGGGAGCGGCGGGAGAGAGAGGGGAGGGACAGGCTAGGTGTCTGCTGCTCCACGCCACTGCTGCCGGCGCCCCGACCTCATCCCCAGCAGCCCCCTCTGCAGCTAAGGGTTACCACCGCACCACCTCTCTTCTTTGCCTGCCTCAGCGGCCAAGGCTCTGCGGTAGGAGACAACCCAGCCGGGTGGCGGGTGGGCCTGTCTAGGTTTGGGTTTGGGTCTTGCTGAGGCCCGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTCCTTCTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGTTAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACAGTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACACGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAACACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAGGCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGACCTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAGGAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATTATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTATTCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTATGTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTGTAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAACTAACTTCTTGCTGCTGTATAGTAAAATATTAATATATTTTTATCATTAAACTGCTGCATGACTATCATCTTTGAGTGAAGAGAAAATGTTATAAAAAAGATGCCTTAAACAGTACATTTTGGTTTGGAATTCTGTAGAAAGTATTTTGGTAAAAAAAAAAAAAAAAAAAAAGGGTCTTGTCTGACAGAGAGTTCTGGGGATGGAATTGTTTCTTGGCAAATCCAGCCATATAGATCTAACTGCTGTATGTA
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Task1_train_9567
|
Given this context: Chromosome 5, gene NDUFA2, TMCO6 (NADH:ubiquinone oxidoreductase subunit A2| transmembrane and coiled-coil domains 6) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 13
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CTTCCACTCAGCACTATCCAGGCAGGAGGACCAAAAGGGACTCAGTGTGGTCTACTTACTCTGGGGCCCTAGAATCCCTGCCCCCCCGCCACCCTTCATGTTTGCTTCAGCAGCTGGTAGCTTTTGATGAGACAGAATAAAGTTTTATTTTTATATTAAGCTACTTTGCCTCAGTGGTTGCACAGTAAGGGGTAGAGGGTAGATGAGGACAAGAACACCCTGAGAAAGTATTTTACAGCACAAGCTTTATGAGGAATAGGAGAACACATTTTTTTCACATTATACTAAGTCCAGCAGAGCCCAGGCTCTGGGGCTGTTGCTCTTAATCCTCAGTGGAGGCTTCAGGCTTTACCACTTAGAACGTTCTCCAGGGCTCTGGTTACCTGATCAGCACTGAAGTTGTTCAAAGGGACATTCGTCTCTTGGCCAAATGCTGAAGAGAGAGAGGGAGGTGTCTTTAACTATTCTGCACCCTGGAGGCTACCAAAGTAAAATAAAAGATCTTTGTCTTTATCTTAGTCTTGTTAAGACAGGAAGAGTATTAAAGAGATATGATCAAAATACATTTGGTATGCCTAGAATTAATACAATAGGTCTCAAACACATCTAGGAAGCCCAAGTCCAAATAGAATTTTGGCTGATTCTGGATGGCCGCAATGGGTTGTTTCAGGGAAGCTTTCGGGGGCACTGTAGGCATTTATTATTAACTACGGTGAGCAATGTATTGCATGGGTCCAGCCTCAGCTGGGAGCCCATTCTCTCTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGTGGTGGCACGATCTCCACTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTGTATGTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCACCCAGCTGGGTACCCATTCTCTAGGCTCCCATAGGCTATCTAACATAATACCCAGCACAATACACTAAAGTTACTCGTGTCTATCTCCTCCTGTAGTCTACTGGCTTTTGGAAGGAGAAGCTTTTTTCCTTCTCCAATTATTAGTGCATGTCTAATGTCTACTGTGTCTCACAGATATCTACTCTGAGAACCAATCTGCTTAAGGTGGTCACTCTCCTCCACCTCCTCCCGTCATTCCCAGGGCACCATATAGTTAAAAGCTGTGATTAAAATCCTGTTATTCAGTATGTATAAACATTTATTGCATACCTACAATGTGTTAGGCAACATGATAGGAAAATTTCATTTTGCAATACATTGCCATGCCAGTCTTAGAGGGGTAAGTGCATTCTAGGAAGGGGAATAAATGTAAAGGCTCAATCCTGTTAAACTCTAGCTGCATCTAAAGTTGCAGCTAGAGTTTAACAATAGTGCAAAACAAAGTTTTGATTCCGTTTTCTAATCTCTACAGTGAGAAAAGAAGAACACGCTTCCTCCTAACTAATGAAGATTAAATGAGTTAGGCAGGGAAGCACTCAGCACAGGGCCCAGCTCTATGTGCAAAATTACTGAGATTCTCACACACTACCTGGACTGACACTGGCTACACGTTATTTGGAGAAACTATATTGACTAACTTCTCTCCTGTCTGAAGCCCATTCTTAACTACAAAAACGTCAGCTCCTGGTCCCTACGCAGGATTCGGTCAGCCTGCATACTTATGTTGCCCGGAATACAACGCATCATATAACCCTGCGAATATAAATTTCTTCATGGAAACAAGATCAACAGCAAGGCTAAAGTCCGAGTTCTAGTTTCTCCACGGGTTTCTGCACGACCTTGGGCGGTCCCTTCTCTTCTCAAACCCTTGTTCCCCTACCGGAGCCCCAGACCCCTGGCGTCCCGCACTCACCGTAGCGGGCCCAGAGCTTGGGCTGCACATCGGAGCATTCGCGGATTAGGATGGGTAGGTCGGGATTCGCCTTCTTCAGCTCCACGTAGCGTTTCTCAATGAAGTCCCTGCGGGGCCGGAGAGAGCGCCGCGCGTGCTGTGGGCGGGGGCTTCCCTCAACTTCAGGGAGGTCGAGGTCGTGACCCTGGCGTCCCGAAGCCCGCCCGCCTCACCACGCCGCGCCTCACCTGACGCCCTGGCTGCCGGGCGAGCGCTGACATAAGTGGATGCGAATCTCACGCAGGCCCAGCTTTGCCCCGACTCCTCGACTTGCTGCGGCCGCCGCCATCCTTGTTAATATCGAAGTCGCCAATTCCAGGTCTTCAGGCCAAGTGCTCCGGTCTGACCAACCGCGGACCCTAAAGCCTAGCCCATAGGCTGCATGAGGCAGGGGCGGGGTAAAGCTTGGCCAATGATATAAAAGTATTGTAGGACCGCTGCGAGGTCAATTTCTTTGCGCTCGGGGTTGGTCGGAGGGAAAAACAGGAAGCGGAAAGGCTGCGAACGCAAAGCAGTGTGGGTTGATTCTGAGGTGCACTGTGGGAAAGAGCTTGTCGCTGCGGTGTTGCTGTTGGAGACTCGATTGTTGGTGACAGCGAAAGAACGATAACAAAATGCCGGAGCGAGATAGTAAGGCTCAGGCCATCCGTTATTTCTTCCCCATGGCACTTGGGGCACTTGGCGCATTATTGTAGCTTCTGAGCTTAAGCCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGTATGTGTGACGCTTGAGCCCGGAGAAGCCACAGGGTCCTAAGTGAGGCCGACAGCTCCAAACTCCGTCCCCAGTCCTCACTCCTACTCCAAGTGATGATGGGCGGCTTTTGTGCGTGGATCGCTTTCCCCCAGTCCTGTCCCCATACTTAATCCTGGGTTGCGCGTATTTATCTTTTACGTAGTATTTTAGACGTGATCTTCCGGAAGTCTTCTCTGATCCTCCAGCGCAGGATTAGGGTCCTCTGCTTTGTGCTCCCACAGCTTCTTGTAGTTTCCTATTTCAGCACTTATTACATTGTGTTGACACTGTCGCTGTTCTAACTTTTGTTCTGTATTGTTCACTACTATATCTCAAATTTTTGCATAGGATCTGACACGTAAGAGACTGATTAAATTAACGTCAATTTTTTTTGTCAGGTGAGCCGTTCTCCAACCCTTTGGCCCCCGATGGCCACGATGTGGATGATCCTCACTCCTTCCACCAGTGAGTATTTTGTGCTAGGACCATGGAAATGAGTTGGGCAATGAATAGAAAAGTGGTGGTGATGGTGAAAGAATTCTGAATGTCTTGTCATCAAGGATGGTAAAAAATTATACCCGCTGGCCCTTTATCTCTGTGAGCCTTAACTGGATCAGGCCAAGTGCATAAGGGTATTAGAAGGGAAATTCCTGCAGGAAAGGTGTTAAGTTTTTTTTTTTTTTTATACGTGTTGTGTAATTACACATTATATAGGAATTACTTCTTCCAATAGCAAATTAAAACATAGGAAATAAGGGTAAAATCATCTTTTTATTTTTTTTGAGACTGAGTTTCGCTCTTGTTGCTCAGGCTGGAATGCAGTGGTGCGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCATGTTCCACTACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGATCAGGCTGGTCTTGAAATCCCGACTTCAGGTGATCCACCCGCCTCTGCCTCCCAAAGTGGTGGGAGTACAGGCGTGAGCCACCGTGCCTGGCCCCCGATAAAATCATCTTTGATAACATCCCCAATTCCAGTCCATTTCTTTTTTTTTTTCTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCACTGTTACCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGCGGTTCTCCTGCCTCAGCCTCCCAAGTAGCT
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CTTCCACTCAGCACTATCCAGGCAGGAGGACCAAAAGGGACTCAGTGTGGTCTACTTACTCTGGGGCCCTAGAATCCCTGCCCCCCCGCCACCCTTCATGTTTGCTTCAGCAGCTGGTAGCTTTTGATGAGACAGAATAAAGTTTTATTTTTATATTAAGCTACTTTGCCTCAGTGGTTGCACAGTAAGGGGTAGAGGGTAGATGAGGACAAGAACACCCTGAGAAAGTATTTTACAGCACAAGCTTTATGAGGAATAGGAGAACACATTTTTTTCACATTATACTAAGTCCAGCAGAGCCCAGGCTCTGGGGCTGTTGCTCTTAATCCTCAGTGGAGGCTTCAGGCTTTACCACTTAGAACGTTCTCCAGGGCTCTGGTTACCTGATCAGCACTGAAGTTGTTCAAAGGGACATTCGTCTCTTGGCCAAATGCTGAAGAGAGAGAGGGAGGTGTCTTTAACTATTCTGCACCCTGGAGGCTACCAAAGTAAAATAAAAGATCTTTGTCTTTATCTTAGTCTTGTTAAGACAGGAAGAGTATTAAAGAGATATGATCAAAATACATTTGGTATGCCTAGAATTAATACAATAGGTCTCAAACACATCTAGGAAGCCCAAGTCCAAATAGAATTTTGGCTGATTCTGGATGGCCGCAATGGGTTGTTTCAGGGAAGCTTTCGGGGGCACTGTAGGCATTTATTATTAACTACGGTGAGCAATGTATTGCATGGGTCCAGCCTCAGCTGGGAGCCCATTCTCTCTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGTGGTGGCACGATCTCCACTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTGTATGTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCACCCAGCTGGGTACCCATTCTCTAGGCTCCCATAGGCTATCTAACATAATACCCAGCACAATACACTAAAGTTACTCGTGTCTATCTCCTCCTGTAGTCTACTGGCTTTTGGAAGGAGAAGCTTTTTTCCTTCTCCAATTATTAGTGCATGTCTAATGTCTACTGTGTCTCACAGATATCTACTCTGAGAACCAATCTGCTTAAGGTGGTCACTCTCCTCCACCTCCTCCCGTCATTCCCAGGGCACCATATAGTTAAAAGCTGTGATTAAAATCCTGTTATTCAGTATGTATAAACATTTATTGCATACCTACAATGTGTTAGGCAACATGATAGGAAAATTTCATTTTGCAATACATTGCCATGCCAGTCTTAGAGGGGTAAGTGCATTCTAGGAAGGGGAATAAATGTAAAGGCTCAATCCTGTTAAACTCTAGCTGCATCTAAAGTTGCAGCTAGAGTTTAACAATAGTGCAAAACAAAGTTTTGATTCCGTTTTCTAATCTCTACAGTGAGAAAAGAAGAACACGCTTCCTCCTAACTAATGAAGATTAAATGAGTTAGGCAGGGAAGCACTCAGCACAGGGCCCAGCTCTATGTGCAAAATTACTGAGATTCTCACACACTACCTGGACTGACACTGGCTACACGTTATTTGGAGAAACTATATTGACTAACTTCTCTCCTGTCTGAAGCCCATTCTTAACTACAAAAACGTCAGCTCCTGGTCCCTACGCAGGATTCGGTCAGCCTGCATACTTATGTTGCCCGGAATACAACGCATCATATAACCCTGCGAATATAAATTTCTTCATGGAAACAAGATCAACAGCAAGGCTAAAGTCCGAGTTCTAGTTTCTCCACGGGTTTCTGCACGACCTTGGGCGGTCCCTTCTCTTCTCAAACCCTTGTTCCCCTACCGGAGCCCCAGACCCCTGGCGTCCCGCACTCACCGTAGCGGGCCCAGAGCTTGGGCTGCACATCGGAGCATGCGCGGATTAGGATGGGTAGGTCGGGATTCGCCTTCTTCAGCTCCACGTAGCGTTTCTCAATGAAGTCCCTGCGGGGCCGGAGAGAGCGCCGCGCGTGCTGTGGGCGGGGGCTTCCCTCAACTTCAGGGAGGTCGAGGTCGTGACCCTGGCGTCCCGAAGCCCGCCCGCCTCACCACGCCGCGCCTCACCTGACGCCCTGGCTGCCGGGCGAGCGCTGACATAAGTGGATGCGAATCTCACGCAGGCCCAGCTTTGCCCCGACTCCTCGACTTGCTGCGGCCGCCGCCATCCTTGTTAATATCGAAGTCGCCAATTCCAGGTCTTCAGGCCAAGTGCTCCGGTCTGACCAACCGCGGACCCTAAAGCCTAGCCCATAGGCTGCATGAGGCAGGGGCGGGGTAAAGCTTGGCCAATGATATAAAAGTATTGTAGGACCGCTGCGAGGTCAATTTCTTTGCGCTCGGGGTTGGTCGGAGGGAAAAACAGGAAGCGGAAAGGCTGCGAACGCAAAGCAGTGTGGGTTGATTCTGAGGTGCACTGTGGGAAAGAGCTTGTCGCTGCGGTGTTGCTGTTGGAGACTCGATTGTTGGTGACAGCGAAAGAACGATAACAAAATGCCGGAGCGAGATAGTAAGGCTCAGGCCATCCGTTATTTCTTCCCCATGGCACTTGGGGCACTTGGCGCATTATTGTAGCTTCTGAGCTTAAGCCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGTATGTGTGACGCTTGAGCCCGGAGAAGCCACAGGGTCCTAAGTGAGGCCGACAGCTCCAAACTCCGTCCCCAGTCCTCACTCCTACTCCAAGTGATGATGGGCGGCTTTTGTGCGTGGATCGCTTTCCCCCAGTCCTGTCCCCATACTTAATCCTGGGTTGCGCGTATTTATCTTTTACGTAGTATTTTAGACGTGATCTTCCGGAAGTCTTCTCTGATCCTCCAGCGCAGGATTAGGGTCCTCTGCTTTGTGCTCCCACAGCTTCTTGTAGTTTCCTATTTCAGCACTTATTACATTGTGTTGACACTGTCGCTGTTCTAACTTTTGTTCTGTATTGTTCACTACTATATCTCAAATTTTTGCATAGGATCTGACACGTAAGAGACTGATTAAATTAACGTCAATTTTTTTTGTCAGGTGAGCCGTTCTCCAACCCTTTGGCCCCCGATGGCCACGATGTGGATGATCCTCACTCCTTCCACCAGTGAGTATTTTGTGCTAGGACCATGGAAATGAGTTGGGCAATGAATAGAAAAGTGGTGGTGATGGTGAAAGAATTCTGAATGTCTTGTCATCAAGGATGGTAAAAAATTATACCCGCTGGCCCTTTATCTCTGTGAGCCTTAACTGGATCAGGCCAAGTGCATAAGGGTATTAGAAGGGAAATTCCTGCAGGAAAGGTGTTAAGTTTTTTTTTTTTTTTATACGTGTTGTGTAATTACACATTATATAGGAATTACTTCTTCCAATAGCAAATTAAAACATAGGAAATAAGGGTAAAATCATCTTTTTATTTTTTTTGAGACTGAGTTTCGCTCTTGTTGCTCAGGCTGGAATGCAGTGGTGCGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCATGTTCCACTACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGATCAGGCTGGTCTTGAAATCCCGACTTCAGGTGATCCACCCGCCTCTGCCTCCCAAAGTGGTGGGAGTACAGGCGTGAGCCACCGTGCCTGGCCCCCGATAAAATCATCTTTGATAACATCCCCAATTCCAGTCCATTTCTTTTTTTTTTTCTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCACTGTTACCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGCGGTTCTCCTGCCTCAGCCTCCCAAGTAGCT
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Task1_train_9568
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Here’s a variant in NDUFA2, TMCO6 (NADH:ubiquinone oxidoreductase subunit A2| transmembrane and coiled-coil domains 6) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Cystic Leukoencephalopathy
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GGGACTCAGTGTGGTCTACTTACTCTGGGGCCCTAGAATCCCTGCCCCCCCGCCACCCTTCATGTTTGCTTCAGCAGCTGGTAGCTTTTGATGAGACAGAATAAAGTTTTATTTTTATATTAAGCTACTTTGCCTCAGTGGTTGCACAGTAAGGGGTAGAGGGTAGATGAGGACAAGAACACCCTGAGAAAGTATTTTACAGCACAAGCTTTATGAGGAATAGGAGAACACATTTTTTTCACATTATACTAAGTCCAGCAGAGCCCAGGCTCTGGGGCTGTTGCTCTTAATCCTCAGTGGAGGCTTCAGGCTTTACCACTTAGAACGTTCTCCAGGGCTCTGGTTACCTGATCAGCACTGAAGTTGTTCAAAGGGACATTCGTCTCTTGGCCAAATGCTGAAGAGAGAGAGGGAGGTGTCTTTAACTATTCTGCACCCTGGAGGCTACCAAAGTAAAATAAAAGATCTTTGTCTTTATCTTAGTCTTGTTAAGACAGGAAGAGTATTAAAGAGATATGATCAAAATACATTTGGTATGCCTAGAATTAATACAATAGGTCTCAAACACATCTAGGAAGCCCAAGTCCAAATAGAATTTTGGCTGATTCTGGATGGCCGCAATGGGTTGTTTCAGGGAAGCTTTCGGGGGCACTGTAGGCATTTATTATTAACTACGGTGAGCAATGTATTGCATGGGTCCAGCCTCAGCTGGGAGCCCATTCTCTCTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGTGGTGGCACGATCTCCACTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTGTATGTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCACCCAGCTGGGTACCCATTCTCTAGGCTCCCATAGGCTATCTAACATAATACCCAGCACAATACACTAAAGTTACTCGTGTCTATCTCCTCCTGTAGTCTACTGGCTTTTGGAAGGAGAAGCTTTTTTCCTTCTCCAATTATTAGTGCATGTCTAATGTCTACTGTGTCTCACAGATATCTACTCTGAGAACCAATCTGCTTAAGGTGGTCACTCTCCTCCACCTCCTCCCGTCATTCCCAGGGCACCATATAGTTAAAAGCTGTGATTAAAATCCTGTTATTCAGTATGTATAAACATTTATTGCATACCTACAATGTGTTAGGCAACATGATAGGAAAATTTCATTTTGCAATACATTGCCATGCCAGTCTTAGAGGGGTAAGTGCATTCTAGGAAGGGGAATAAATGTAAAGGCTCAATCCTGTTAAACTCTAGCTGCATCTAAAGTTGCAGCTAGAGTTTAACAATAGTGCAAAACAAAGTTTTGATTCCGTTTTCTAATCTCTACAGTGAGAAAAGAAGAACACGCTTCCTCCTAACTAATGAAGATTAAATGAGTTAGGCAGGGAAGCACTCAGCACAGGGCCCAGCTCTATGTGCAAAATTACTGAGATTCTCACACACTACCTGGACTGACACTGGCTACACGTTATTTGGAGAAACTATATTGACTAACTTCTCTCCTGTCTGAAGCCCATTCTTAACTACAAAAACGTCAGCTCCTGGTCCCTACGCAGGATTCGGTCAGCCTGCATACTTATGTTGCCCGGAATACAACGCATCATATAACCCTGCGAATATAAATTTCTTCATGGAAACAAGATCAACAGCAAGGCTAAAGTCCGAGTTCTAGTTTCTCCACGGGTTTCTGCACGACCTTGGGCGGTCCCTTCTCTTCTCAAACCCTTGTTCCCCTACCGGAGCCCCAGACCCCTGGCGTCCCGCACTCACCGTAGCGGGCCCAGAGCTTGGGCTGCACATCGGAGCATTCGCGGATTAGGATGGGTAGGTCGGGATTCGCCTTCTTCAGCTCCACGTAGCGTTTCTCAATGAAGTCCCTGCGGGGCCGGAGAGAGCGCCGCGCGTGCTGTGGGCGGGGGCTTCCCTCAACTTCAGGGAGGTCGAGGTCGTGACCCTGGCGTCCCGAAGCCCGCCCGCCTCACCACGCCGCGCCTCACCTGACGCCCTGGCTGCCGGGCGAGCGCTGACATAAGTGGATGCGAATCTCACGCAGGCCCAGCTTTGCCCCGACTCCTCGACTTGCTGCGGCCGCCGCCATCCTTGTTAATATCGAAGTCGCCAATTCCAGGTCTTCAGGCCAAGTGCTCCGGTCTGACCAACCGCGGACCCTAAAGCCTAGCCCATAGGCTGCATGAGGCAGGGGCGGGGTAAAGCTTGGCCAATGATATAAAAGTATTGTAGGACCGCTGCGAGGTCAATTTCTTTGCGCTCGGGGTTGGTCGGAGGGAAAAACAGGAAGCGGAAAGGCTGCGAACGCAAAGCAGTGTGGGTTGATTCTGAGGTGCACTGTGGGAAAGAGCTTGTCGCTGCGGTGTTGCTGTTGGAGACTCGATTGTTGGTGACAGCGAAAGAACGATAACAAAATGCCGGAGCGAGATAGTAAGGCTCAGGCCATCCGTTATTTCTTCCCCATGGCACTTGGGGCACTTGGCGCATTATTGTAGCTTCTGAGCTTAAGCCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGTATGTGTGACGCTTGAGCCCGGAGAAGCCACAGGGTCCTAAGTGAGGCCGACAGCTCCAAACTCCGTCCCCAGTCCTCACTCCTACTCCAAGTGATGATGGGCGGCTTTTGTGCGTGGATCGCTTTCCCCCAGTCCTGTCCCCATACTTAATCCTGGGTTGCGCGTATTTATCTTTTACGTAGTATTTTAGACGTGATCTTCCGGAAGTCTTCTCTGATCCTCCAGCGCAGGATTAGGGTCCTCTGCTTTGTGCTCCCACAGCTTCTTGTAGTTTCCTATTTCAGCACTTATTACATTGTGTTGACACTGTCGCTGTTCTAACTTTTGTTCTGTATTGTTCACTACTATATCTCAAATTTTTGCATAGGATCTGACACGTAAGAGACTGATTAAATTAACGTCAATTTTTTTTGTCAGGTGAGCCGTTCTCCAACCCTTTGGCCCCCGATGGCCACGATGTGGATGATCCTCACTCCTTCCACCAGTGAGTATTTTGTGCTAGGACCATGGAAATGAGTTGGGCAATGAATAGAAAAGTGGTGGTGATGGTGAAAGAATTCTGAATGTCTTGTCATCAAGGATGGTAAAAAATTATACCCGCTGGCCCTTTATCTCTGTGAGCCTTAACTGGATCAGGCCAAGTGCATAAGGGTATTAGAAGGGAAATTCCTGCAGGAAAGGTGTTAAGTTTTTTTTTTTTTTTATACGTGTTGTGTAATTACACATTATATAGGAATTACTTCTTCCAATAGCAAATTAAAACATAGGAAATAAGGGTAAAATCATCTTTTTATTTTTTTTGAGACTGAGTTTCGCTCTTGTTGCTCAGGCTGGAATGCAGTGGTGCGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCATGTTCCACTACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGATCAGGCTGGTCTTGAAATCCCGACTTCAGGTGATCCACCCGCCTCTGCCTCCCAAAGTGGTGGGAGTACAGGCGTGAGCCACCGTGCCTGGCCCCCGATAAAATCATCTTTGATAACATCCCCAATTCCAGTCCATTTCTTTTTTTTTTTCTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCACTGTTACCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGCGGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCATGCACGACTGATT
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GGGACTCAGTGTGGTCTACTTACTCTGGGGCCCTAGAATCCCTGCCCCCCCGCCACCCTTCATGTTTGCTTCAGCAGCTGGTAGCTTTTGATGAGACAGAATAAAGTTTTATTTTTATATTAAGCTACTTTGCCTCAGTGGTTGCACAGTAAGGGGTAGAGGGTAGATGAGGACAAGAACACCCTGAGAAAGTATTTTACAGCACAAGCTTTATGAGGAATAGGAGAACACATTTTTTTCACATTATACTAAGTCCAGCAGAGCCCAGGCTCTGGGGCTGTTGCTCTTAATCCTCAGTGGAGGCTTCAGGCTTTACCACTTAGAACGTTCTCCAGGGCTCTGGTTACCTGATCAGCACTGAAGTTGTTCAAAGGGACATTCGTCTCTTGGCCAAATGCTGAAGAGAGAGAGGGAGGTGTCTTTAACTATTCTGCACCCTGGAGGCTACCAAAGTAAAATAAAAGATCTTTGTCTTTATCTTAGTCTTGTTAAGACAGGAAGAGTATTAAAGAGATATGATCAAAATACATTTGGTATGCCTAGAATTAATACAATAGGTCTCAAACACATCTAGGAAGCCCAAGTCCAAATAGAATTTTGGCTGATTCTGGATGGCCGCAATGGGTTGTTTCAGGGAAGCTTTCGGGGGCACTGTAGGCATTTATTATTAACTACGGTGAGCAATGTATTGCATGGGTCCAGCCTCAGCTGGGAGCCCATTCTCTCTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGTGGTGGCACGATCTCCACTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTGTATGTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCACCCAGCTGGGTACCCATTCTCTAGGCTCCCATAGGCTATCTAACATAATACCCAGCACAATACACTAAAGTTACTCGTGTCTATCTCCTCCTGTAGTCTACTGGCTTTTGGAAGGAGAAGCTTTTTTCCTTCTCCAATTATTAGTGCATGTCTAATGTCTACTGTGTCTCACAGATATCTACTCTGAGAACCAATCTGCTTAAGGTGGTCACTCTCCTCCACCTCCTCCCGTCATTCCCAGGGCACCATATAGTTAAAAGCTGTGATTAAAATCCTGTTATTCAGTATGTATAAACATTTATTGCATACCTACAATGTGTTAGGCAACATGATAGGAAAATTTCATTTTGCAATACATTGCCATGCCAGTCTTAGAGGGGTAAGTGCATTCTAGGAAGGGGAATAAATGTAAAGGCTCAATCCTGTTAAACTCTAGCTGCATCTAAAGTTGCAGCTAGAGTTTAACAATAGTGCAAAACAAAGTTTTGATTCCGTTTTCTAATCTCTACAGTGAGAAAAGAAGAACACGCTTCCTCCTAACTAATGAAGATTAAATGAGTTAGGCAGGGAAGCACTCAGCACAGGGCCCAGCTCTATGTGCAAAATTACTGAGATTCTCACACACTACCTGGACTGACACTGGCTACACGTTATTTGGAGAAACTATATTGACTAACTTCTCTCCTGTCTGAAGCCCATTCTTAACTACAAAAACGTCAGCTCCTGGTCCCTACGCAGGATTCGGTCAGCCTGCATACTTATGTTGCCCGGAATACAACGCATCATATAACCCTGCGAATATAAATTTCTTCATGGAAACAAGATCAACAGCAAGGCTAAAGTCCGAGTTCTAGTTTCTCCACGGGTTTCTGCACGACCTTGGGCGGTCCCTTCTCTTCTCAAACCCTTGTTCCCCTACCGGAGCCCCAGACCCCTGGCGTCCCGCACTCACCGTAGCGGGCCCAGAGCTTGGGCTGCACATCGGAGCATTCGCGGATTAGGATGGGTAGGTCGGGATTCGCCTTCGTCAGCTCCACGTAGCGTTTCTCAATGAAGTCCCTGCGGGGCCGGAGAGAGCGCCGCGCGTGCTGTGGGCGGGGGCTTCCCTCAACTTCAGGGAGGTCGAGGTCGTGACCCTGGCGTCCCGAAGCCCGCCCGCCTCACCACGCCGCGCCTCACCTGACGCCCTGGCTGCCGGGCGAGCGCTGACATAAGTGGATGCGAATCTCACGCAGGCCCAGCTTTGCCCCGACTCCTCGACTTGCTGCGGCCGCCGCCATCCTTGTTAATATCGAAGTCGCCAATTCCAGGTCTTCAGGCCAAGTGCTCCGGTCTGACCAACCGCGGACCCTAAAGCCTAGCCCATAGGCTGCATGAGGCAGGGGCGGGGTAAAGCTTGGCCAATGATATAAAAGTATTGTAGGACCGCTGCGAGGTCAATTTCTTTGCGCTCGGGGTTGGTCGGAGGGAAAAACAGGAAGCGGAAAGGCTGCGAACGCAAAGCAGTGTGGGTTGATTCTGAGGTGCACTGTGGGAAAGAGCTTGTCGCTGCGGTGTTGCTGTTGGAGACTCGATTGTTGGTGACAGCGAAAGAACGATAACAAAATGCCGGAGCGAGATAGTAAGGCTCAGGCCATCCGTTATTTCTTCCCCATGGCACTTGGGGCACTTGGCGCATTATTGTAGCTTCTGAGCTTAAGCCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGTATGTGTGACGCTTGAGCCCGGAGAAGCCACAGGGTCCTAAGTGAGGCCGACAGCTCCAAACTCCGTCCCCAGTCCTCACTCCTACTCCAAGTGATGATGGGCGGCTTTTGTGCGTGGATCGCTTTCCCCCAGTCCTGTCCCCATACTTAATCCTGGGTTGCGCGTATTTATCTTTTACGTAGTATTTTAGACGTGATCTTCCGGAAGTCTTCTCTGATCCTCCAGCGCAGGATTAGGGTCCTCTGCTTTGTGCTCCCACAGCTTCTTGTAGTTTCCTATTTCAGCACTTATTACATTGTGTTGACACTGTCGCTGTTCTAACTTTTGTTCTGTATTGTTCACTACTATATCTCAAATTTTTGCATAGGATCTGACACGTAAGAGACTGATTAAATTAACGTCAATTTTTTTTGTCAGGTGAGCCGTTCTCCAACCCTTTGGCCCCCGATGGCCACGATGTGGATGATCCTCACTCCTTCCACCAGTGAGTATTTTGTGCTAGGACCATGGAAATGAGTTGGGCAATGAATAGAAAAGTGGTGGTGATGGTGAAAGAATTCTGAATGTCTTGTCATCAAGGATGGTAAAAAATTATACCCGCTGGCCCTTTATCTCTGTGAGCCTTAACTGGATCAGGCCAAGTGCATAAGGGTATTAGAAGGGAAATTCCTGCAGGAAAGGTGTTAAGTTTTTTTTTTTTTTTATACGTGTTGTGTAATTACACATTATATAGGAATTACTTCTTCCAATAGCAAATTAAAACATAGGAAATAAGGGTAAAATCATCTTTTTATTTTTTTTGAGACTGAGTTTCGCTCTTGTTGCTCAGGCTGGAATGCAGTGGTGCGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCATGTTCCACTACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGATCAGGCTGGTCTTGAAATCCCGACTTCAGGTGATCCACCCGCCTCTGCCTCCCAAAGTGGTGGGAGTACAGGCGTGAGCCACCGTGCCTGGCCCCCGATAAAATCATCTTTGATAACATCCCCAATTCCAGTCCATTTCTTTTTTTTTTTCTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCACTGTTACCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGCGGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCATGCACGACTGATT
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Task1_train_9569
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Given a variant located on Chromosome 5 and affecting HARS1 (histidyl-tRNA synthetase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Autosomal dominant Charcot-Marie-Tooth disease type 2W
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ATGACCCCATCCTTGAGTTCCTGCTCGCCGATGATAGCCACCAGTGGGATGCCTGCCTCCTCACAGTACTGTAACTGGTTCAGTAGCTTTGGGTTCTTCTTGTACAGCAGCTCAGCCTGCAGGGGACAAGAGCAGAAGATGAAGGCTGGCTTCTGCTGTCCTCAGGGACAGAGGGTGTCCAAGCTGGCACCCTGTTCTTAGCTCTACTTTTGAGAAGTAATGGCAGGATCCATTATGGGTGAGCTTTTATTCAGTTTGTGTCCAGCACACCTAAGTTTGCTGCCACCCTGGGGCTTGCCTCCCATACCTTGATCCCAGCATCCCACAGTTCTGAGACAAGCTTTAGTCTTTCCTCTAGCAGCTTCTTCTGTGCAGATGCCACAAGCACCTGTGTCTCCGTGGTCCGTATCTTCTCCTCCAAAGCCTGGGGAAGGGGCAGATAAAAGAGAGCTGGGCTAACACCTTCAAGGAGCAAACAAAGCAGGCTCTAGTCGGGATTTTGAGACCAGGCCCAACTCAGCTCTACCAGGGCAGGGGCCCTGTCTTCTCATCTAGCACCTTGGGCATAAAGGTAGCTTTTAGTAGATATGAGGACTGAACTGACTGACTTGTACATAGGACGTATCAGAATAAATAACTTAGGGCAAGAGTAAAGGTAGCTTTTTTACAGTAACTTCAAGCTTATCTCCATGTAGTACCTTTTTTTTTTTTTTGAGACAGGGTCTCTGTCATCCAGGCTGAAGTGCCGTGGTGTGATCACTGCAGCTTCGACCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGACTACAGGCACACACCACCATACTCAGCTAATTTAAAAAAAAAAAAAAATTTTTTTTTTTAATCTGTAGAGACAGGGTCTCATCATGTTGCCCAGGCTGGTCCATGTAGTACCTTAAGGGTCCACCAAAGCATTCACACAGAAGTACTACTATGAGCCCACCCCAATTAGATCACCCTTGACAGTTTTAGTCCCCACTTACTATCTACCCATTTATGACACTGTGCCTCTCACACTTCAGTTACAGGGCACAGGCGTGTATATGGGTGTGGGGAAAGGAGAATGCTGCTGCTGCTTCCCTTGTCTTTTTCAGGAAAACTATTTTCATAGTTCTTAGAATGTAAGATGCCTACTGGAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTCGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCAC
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ATGACCCCATCCTTGAGTTCCTGCTCGCCGATGATAGCCACCAGTGGGATGCCTGCCTCCTCACAGTACTGTAACTGGTTCAGTAGCTTTGGGTTCTTCTTGTACAGCAGCTCAGCCTGCAGGGGACAAGAGCAGAAGATGAAGGCTGGCTTCTGCTGTCCTCAGGGACAGAGGGTGTCCAAGCTGGCACCCTGTTCTTAGCTCTACTTTTGAGAAGTAATGGCAGGATCCATTATGGGTGAGCTTTTATTCAGTTTGTGTCCAGCACACCTAAGTTTGCTGCCACCCTGGGGCTTGCCTCCCATACCTTGATCCCAGCATCCCACAGTTCTGAGACAAGCTTTAGTCTTTCCTCTAGCAGCTTCTTCTGTGCAGATGCCACAAGCACCTGTGTCTCCGTGGTCCGTATCTTCTCCTCCAAAGCCTGGGGAAGGGGCAGATAAAAGAGAGCTGGGCTAACACCTTCAAGGAGCAAACAAAGCAGGCTCTAGTCGGGATTTTGAGACCAGGCCCAACTCAGCTCTACCAGGGCAGGGGCCCTGTCTTCTCATCTAGCACCTTGGGCATAAAGGTAGCTTTTAGTAGATATGAGGACTGAACTGACTGACTTGTACATAGGACGTATCAGAATAAATAACTTAGGGCAAGAGTAAAGGTAGCTTTTTTACAGTAACTTCAAGCTTATCTCCATGTAGTACCTTTTTTTTTTTTTTGAGACAGGGTCTCTGTCATCCAGGCTGAAGTGCCGTGGTGTGATCACTGCAGCTTCGACCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGACTACAGGCACACACCACCATACTCAGCTAATTTAAAAAAAAAAAAAAATTTTTTTTTTTAATCTGTAGAGACAGGGTCTCATCATGTTGCCCAGGCTGGTCCATGTAGTACCTTAAGGGTCCACCAAAGCATTCACACAGAAGTACTACTATGAGCCCACCCCAATTAGATCACCCTTGACAGTTTTAGTCCCCACTTACTATCTACCCATTTATGACACTGTGCCTCTCACACTTCAGTTACAGGGCACAGGCGTGTATATGGGTGTGGGGAAAGGAGAATGCTGCTGCTGCTTCCCTTGTCTTTTTCAGGAAAACTATTTTCATAGTTCTTAGAATGTAAGATGCCTACTGGAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATAATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTCGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCAC
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Task1_train_9570
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This sequence change occurs on Chromosome 5, altering HARS1 (histidyl-tRNA synthetase 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Spastic ataxia
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTCGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTAGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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Task1_train_9571
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Assess the clinical impact of this variant on gene HARS1 (histidyl-tRNA synthetase 1), found on Chromosome 5. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Intellectual disability
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTCGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTAGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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Task1_train_9572
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This variant impacts the gene HARS1 (histidyl-tRNA synthetase 1) on Chromosome 5. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Choreoathetosis
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTCGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTAGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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Task1_train_9573
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This variant impacts the gene HARS1 (histidyl-tRNA synthetase 1) on Chromosome 5. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Spastic ataxia
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTCGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTAGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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Task1_train_9574
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This mutation is located in gene HARS1 (histidyl-tRNA synthetase 1) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Peripheral neuropathy
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTCGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTAGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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Task1_train_9575
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A genomic change on Chromosome 5 affects HARS1 (histidyl-tRNA synthetase 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Cerebellar atrophy
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTCGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTAGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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Task1_train_9576
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Located on Chromosome 5, this mutation impacts HARS1 (histidyl-tRNA synthetase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Dysmetria
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTCGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTAGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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Task1_train_9577
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Given this variant in gene HARS1 (histidyl-tRNA synthetase 1) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Tremor
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTCGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTAGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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Task1_train_9578
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An alteration has been detected in HARS1 (histidyl-tRNA synthetase 1) on Chromosome 5. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Oculomotor apraxia
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTCGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTAGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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Task1_train_9579
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This alteration occurs within gene HARS1 (histidyl-tRNA synthetase 1) located on Chromosome 5. Is it associated with a disease or is it a benign variant?
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Pathogenic; Dysarthria
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTCGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTAGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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Task1_train_9580
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A genomic change on Chromosome 5 affects HARS1 (histidyl-tRNA synthetase 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Nystagmus
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTCGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTAGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAA
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Task1_train_9581
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A variant on Chromosome 5 in gene HARS1 (histidyl-tRNA synthetase 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; Autosomal dominant Charcot-Marie-Tooth disease type 2W
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TGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTCGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAACTTGTCTACATTTCCCTCTGCTCTTTATCCCAATTCTTAGGTGTCTGATGTAGTTATCATTAAAAGGAAACACCAATTTTGTGTTTTTTTC
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TGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCTGTAGTAACAATTATATTTTGATAATGCATGAAAAGCACCAAGCACAGTGCCTGGCACAAGGCAGTAAAATGTTAAGTATTCCGTATCATGAGGAAGATCTAAGTCTTGGATACACCAGCCCAGGTTTGTGACAGCCCTGAAGGAAGTAGAGACCCAGAGCAGAGGATTGAGTGCAGAAAGATTATGGATTAAAGATCCATAAAACTTACATATAATGGGGTAGAAATCTGTGAAAAAGAGCAATAATCTTTTCTCCATTTCTGTGAGATGCTCCCTGCCCAAAGCAGCACCACTTGCTCCCTTGGAGATCAGATAGCTTAGGTGCCACCACCTGCTCAGACTATCTTCTACCTACCTCCTAGGACCTACCTCTAGTCTCTGTTCCACGATGGAGAAAATCCGCTCCACCCCAATGCTGAGCCCCACACATGGCACCTTGCGCCCTTTGGGGTCGAACATGCCCACTAGCCCATCATAGCGTCCTCCAGCAGCCACACTGCCCACACCCAGGGGCTCTTCCCCTGCCTGGGCTGGGGTCTGTAGCAGCACTGCCTCATAGATCACCCCAGTGTAGTAATCCAGCCCTCGAGCAAGGCTCAGGTCAAAGGAGATCTGTGGAGATAAGAAAATGGTCAGTGCCAGATTAAGATCAGGGACCTGAAGCCCCAGAGCTCAGAAGGGATCCCGTCCCCAACTTGACTCACTTTGTCATCAATGCCAAATAGGGTCAGGTACTCAAAGAGCAACTTCAGGTCTCCCAGGCCCTCCAAGGCCTGCTTGTTTTGGGATAGTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTCGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAACTCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAACTTGTCTACATTTCCCTCTGCTCTTTATCCCAATTCTTAGGTGTCTGATGTAGTTATCATTAAAAGGAAACACCAATTTTGTGTTTTTTTC
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Task1_train_9582
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A variant affecting Chromosome 5, within the gene HARS1 (histidyl-tRNA synthetase 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Autosomal dominant Charcot-Marie-Tooth disease type 2W
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GTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTCGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAAGGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAACTTGTCTACATTTCCCTCTGCTCTTTATCCCAATTCTTAGGTGTCTGATGTAGTTATCATTAAAAGGAAACACCAATTTTGTGTTTTTTTCTATTTTGATTTTGTAACAGAGCTGAAGTATTTTTCTTACACATTTTCCTCTTAAAAATCTTTTTTTTCTTCAGACTTCTCAGCATGAAGTTTGTTTTTTTTTTTTGAAATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGACTCCGGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGCGACTACAGGCGGGTGCCACCATGCCCGGCTAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATAGTCTCGATCTCTTGACCTCGTGATCTGCCCGCTTCAGCCTCCCAAAGTACTGGGATTACAAGTGCGAGCCACAGCGCCCGGCCTGAAGTGTTTTTAAAAGATGCATAAATTCCAGTGAGAAGAAGCTCTGTACTTACTTCCTCCCTCATGTTATACTGTTAGGTGTTTAGGTTATTCTAATTTAAAAAAAAATTTTTTTAGGCCAGGCATAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGGGAGCTGGTAGGCATCTAATCCCAGCTATTCGGAGGCTTAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGGTGCAGTGAGCAGAGATCGCACCATTGCACTCCAGCCTGGGTGACGAGAGTGAAACTCTGTCTCAAAAAAAAAAAAATTCCCCATAACATTTCAATATCTAATATTTAGGTATATAGCTCTTTTTTTTTTTAAAAAAAAGTATTTTTCTTGATGATAAACTACTAGGAATAGGTTATCAGACCAATAAACATAAATGTTTTTTGATGCCTGAGATTCGAATAATGTCAAAAGTAAAAACTGGGGAATGTCTTAAGGGCATTACAGCAGTCCTTGCCCTGTGATGTCTATCATCGGTAATAGCATATTTCACTTACCAGGTTGGCAAAGATTAAAAAGCCTGAAACTTCCCAGTATGCAGTATCAGAAACAGTAACACACTAGTGTTACGGGCTG
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GTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATCTCATTCTTCACCTCTTCCCAGGACACCTAGGCAGACAGACACCAGTCAGGGACCCCTGGGCAGCTTCCGCACCACAGAGCAAGTGTGTACTGTCCTCGGGGAACCGTTTTAGAGCAGTAGCTGCCCATGAGCCTACATCCTGGGGCTAACCTTCCTCTGGTGGGTATAGAGGCATGCACCTCTCTCTCTCTCAATCTTGTTTTCCATTTCCCAAGGCAGGGTGGGATCTGGGAAAAGAAGTCAAGTACTTGGGTTGTTACCTTGTCCAGCTTGTCTACTGAGGAGCAGATGGTACGGAACTTGCTGTCAGAAACACCACAGATAGCAAACATCCCATCTAGAATGCGTCGATCGTTTACCTGCAAGGAACCAATGCATAGTGAGGGGGGAATCTCTTTTCTTACATGACCTGCAATAGTCATGGTCACTTAGGCTACTGGTCCCTCTGCACAAGGATCTTCTCTTGTGAGAGGCCAGGCCCAACTTTGCCCTCCCAGCCTTGTCAGCTCTGACCTTGACCAGGAAGTCGCCTATCTGAAGTGAACTCAGGATCTCGCACATGATCTTCAGGCACTCTGCATCAGGGATCATGGGATCAAAGTTCCCAGCAATGTCAAAATCCTGCAGGGAGAGGGTTAGCCAGCGGTCTTCAGGGATTCACCTTTCTGAAGGGGGGACTCTGGGAGCTCTGTCCTCTAGGAAGGCCTGGTTGCACTCAAGCATAGAATTTCTCTTTCATTTTCTGATCATCAGCCCAGAGGTAAACCCCGGCATCTTTGGGCTTCTCACCAGTTTTGGTTTCCTTTCCATCTACTGGGCTATTCCTTCATTTTCTACTTCATCATCTTCTTAACTCCTCCTACTGGATGGGGTGATTATATGGCTTTAGTGCTTAGCCATTTTCCCTATTCATCCAGAAGCCCTGGCATCAGTCTGGATGATTTGATGTATCAAAGCTAATTTCCTTATTCTCTGCTGTGATCCTATCACTGTGGTTTAAAATAAAGAGCACTGGACCAAGAGTTCTAGTCCTGACTTTGCCTTTCTTATCCCTATGATCTCTTCATGGGCTGGGTATCAAGTTTACTCATATGTAAAATGAAGAGACTTTATTCTCCTCCCCCACCACAGGGATTTTGTGAAATCTGCATGAAAACACCATAGAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGACCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCACCACTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAACAAACAAAAAAACCACCATAGAAACCCTAAGAGCATTATCTGGGTCATCCAATTTGCTCAGGACACCGTGAGTACTCAATAGATTCTGCTGGCTTGAGAGAGCCCCAAGTAACTCATCCTGCCCCACGGTTTCCCAACACTCACACACTGGTAGAATTCCCGGTATCGGCCACGGGTCATGGCTGGGTTATCCCGCCGATATACCTTTGCTATGTGGTAGCGTTTAATGTTGGTCAGTTTATTCATTGCCAAATACCGAGCAAAATGAACCTGATGACAAAGAGTTAAGGAGAAAGCCCCTCCTATCACTGTCTGCAAGTTGATTATCATCACCAACAGAAGCTGGGGTCTAACCCCTCCCTATGTGGGTAAAACTGCCACCCATAAGATTAATAGCACTTACAAACATCAGAAAGCATCAGCTGTGCTACCACATGAGGTAGCTGAAGGCTCAAAAAAGATTAAGGCACCTTTCCCTTTTGTAGTGTTGACTGGACTTTTTTGAGCATGGCAAGGGGCTGGGCAGGTTGGCCACAGACCAGAAAAAGGCGACCAGAAAAAGGCCCCCATATGGGATTTCTAAGCAGATGATTCTCTGTGTAGCTTGGAGACAAGGGAAATGTGTTGCTAGTCCATTAAGAAGAATTTTGTTCACTGGACAGGGCAGGGGAGAGGTATTCTGGAGCCAGGGGATGACTGTAGAGTTGGAACTGGGCCCTGACATCAAGCTGAGGTCTCACTCAGGATTCAGAAGATTTCTAAGGATGTGTATGCTCTGTTTAGCCAAAGTTCCACTCCTGGTTTAGAGAAATAATTCCCCTAATCGCCAAAGGCCTCATATTTGATCCTACCTACTCTACCATTCTTAAACCTGAGCCAAGTGAGTGCCAATCCATCCAAAGTCTCAAGAGCCCAAGTTTAGAAAGATACAGTGAGGTCATAGCGAAGGGACAGGAGCTCCCCGCCCTGGTCCTTCAGGTCATAGATAAGCTTGGAGTCTTCCCCATACTTTCCCATCAGTGTTTCCTGGAGAAAACATAAATAAATGTGGTCATAATAATAAACATAACAATTTAAAAGGAAGTTTTGAAAACAAACATGACTGATTCCAACTTGTCTACATTTCCCTCTGCTCTTTATCCCAATTCTTAGGTGTCTGATGTAGTTATCATTAAAAGGAAACACCAATTTTGTGTTTTTTTCTATTTTGATTTTGTAACAGAGCTGAAGTATTTTTCTTACACATTTTCCTCTTAAAAATCTTTTTTTTCTTCAGACTTCTCAGCATGAAGTTTGTTTTTTTTTTTTGAAATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGACTCCGGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGCGACTACAGGCGGGTGCCACCATGCCCGGCTAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATAGTCTCGATCTCTTGACCTCGTGATCTGCCCGCTTCAGCCTCCCAAAGTACTGGGATTACAAGTGCGAGCCACAGCGCCCGGCCTGAAGTGTTTTTAAAAGATGCATAAATTCCAGTGAGAAGAAGCTCTGTACTTACTTCCTCCCTCATGTTATACTGTTAGGTGTTTAGGTTATTCTAATTTAAAAAAAAATTTTTTTAGGCCAGGCATAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGGGAGCTGGTAGGCATCTAATCCCAGCTATTCGGAGGCTTAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGGTGCAGTGAGCAGAGATCGCACCATTGCACTCCAGCCTGGGTGACGAGAGTGAAACTCTGTCTCAAAAAAAAAAAAATTCCCCATAACATTTCAATATCTAATATTTAGGTATATAGCTCTTTTTTTTTTTAAAAAAAAGTATTTTTCTTGATGATAAACTACTAGGAATAGGTTATCAGACCAATAAACATAAATGTTTTTTGATGCCTGAGATTCGAATAATGTCAAAAGTAAAAACTGGGGAATGTCTTAAGGGCATTACAGCAGTCCTTGCCCTGTGATGTCTATCATCGGTAATAGCATATTTCACTTACCAGGTTGGCAAAGATTAAAAAGCCTGAAACTTCCCAGTATGCAGTATCAGAAACAGTAACACACTAGTGTTACGGGCTG
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Task1_train_9583
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A variant found in Chromosome 5 affects HARS2 (histidyl-tRNA synthetase 2, mitochondrial). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Perrault syndrome 2
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AAAGAGTACGTGCAACCTCACTCACTTCTTCAATGGCGTTCAGTGTCCCAAAGGGCTTCTCATCTGTGTTTTGGAGTCATGCTTTCAACTGTGGCTCATTCTGTTTGACCCCTATAGGAAACCCTGACTGAGAAGTATGGAGAGGACTCTGGGCTCATGTATGATCTGAAGGATCAAGGTGGAGAGCTGTTGTCCCTCCGCTATGACCTTACTGTATCCTTTTGAGTACTGGAGCCTGACCTGTCTCTTTCCAAATCCAGCGGGCTTTCTCTGACAAAAGTGGAGAACGTGACTTTGGGATCTTAGAGGTCCATTGCCTATACTTCTAGTTTCTCCCAGAAGGCAGTTCTGCTACGGAAGCCTGGCCTGGAGCCCTGTCATTTAACTCTAGTGTGTATCATAATCCTTTGGGGGAGCTTGCAGAAGCACAGACATTTGGCTGCAGTCCCAGAGATTCTTAGCTAATTCTGTAGCTGGAATGGGGCTCAATAATTTGTATTAAAAAATTGTTTTTTTTGGCCAGACACGTGGCTCACGCCTGTAATCCAAGCCCTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATAGTGAAACCCCATCTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCTCAGGTTCTGAGTCTAGTTTGGGACTGACTGTCACCTTGTCTCCACAGATCTCTTTTGACGTAAAAAGTTAGCTGGCTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCTGTCTCAAAAAAAAAATTTTTTTTGTGGAGATGGGTGTCTTTGTTGCCCAGGCTGGTTGTAAACTCATCGTTTCAAGTGATCCTCCCATCTTGGCCTCCTAAAGTGCTGGGGTTACGGGTGTGAGCCACTGCATCTGGCCTACAGTCTGCATTTTAAACAAGCATCGTGGGTAATTAAGATGCATGTAGTCCTTTCCCTGCACTTTCAGAACCAGTAGCTTAGAAGTTGTTAGGCAAATCCAAGTTCTGAAGCTTGACTATTTTGAGATGGTTCGGAATCGATCTGAATGGGCAGAAAGACCTGAAGTTAGTTCTTGGGTCACTTCTATCTCTACTTGCCTTGCTTTCTGCTGAACTTTTAGTTTTGCTAGGTGAGATTCCTTCATTTGACACTATTCAATATATATTGAATTCCAAGCACTGCTAGGCCTTGGGGATAGTGGAAAAAAGGGAAGGTCCTTGTTCTTACCCTAGTGGATGAGATCCAGGCCCAGTCCTCCCTAATGTCTGTATACTGGGCCTAATCTTTGGATGCAGTATCCCTCTTCCTTAACCCATTTATGTGAGGTTCCCTTTGCTCGTTATCTGGCCATGAATAAGGTGAAGAAGATGAAACGTTATCATGTTGGAAAGGTGTGGCGGCGAGAGAGCCCAACCATAGTCCAAGGCCGTTATAGGGAGTTCTGCCAGTGTGTAAGTGACCTGATGGGAGCAGCACAGTTTGATAGTTCTAGGGGCCACAACCTTGAAACTGGCTGGATAATGGATGTTTTTTCCCATCTTTTTCTTTGCTGTAGGATTTTGACATTGCTGGTCAGTTTGACCCTATGATCCCCGATGCAGAGTGTTTGAAGATCATGTGTGAAATCCTAAGTGGATTGCAGTTGGGAGACTTTCTCATTAAGGTGAGGCCAGGGCTGAGAACTGTGGGAGAAGTCTGGATTTGGCCTAATACTGTTTATGCAAGTCCCAAACTTGGGTGACTCCAACCCTTAAGCCTGCAACTGTAGGACTTTCCTAGTAAAGCTGTTGTATTTCCTATATGTCTGTACTCTTCCTGTGAAATTTCCATCCTTTTTGTGTGTCAGGAAAGTAGGTACTGCCATTGTTTTGAGTGGAAGGGCATTGACAAGCACTTGGGTCACTGACATTGAGTTCTCAGGTAAATGACCGGCGGATTGTGGATGGGATGTTTGCTGTCTGTGGTGTTCCTGAAAGCAAGTTCCGTGCCATCTGCTCCTCCATAGATAAACTAGACAAGGTAACAAAGAAGACATACTTCAGTAGACCCTATCTAGCTTCTGCCCTGCCCTCAAATCCATACCACTAGTGAAAAATAAGGAGATTGTGGCTGGAAGTGGGCTATTTTGGGGTGGAAGGTAAGGAGGCATACTCTGAAGGAAGATCTGAGTCATGCTATACAGTGGGGATTGTGACTGGATTTCTTAAGCTGTCTCTGACTTTGCTGAGTATACAGTTAGCTACTTGTGATGTATATACTGAATGGAAGTTGAGTTGTCCTTTTTCAGTTTGAGAAAGAAAGATCTTGGGGCTGGGCTAATGTTTGGGTGTTTATGCAGATGGCTTGGAAAGATGTGAGACATGAGATGGTGGTGAAGAAAGGCCTGGCTCCTGAGGTGGCTGATCGAATTGGGGACTATGTCCAGTGTCATGGTAAGAACCAGGGTTTTCAGAGCTGTGATAGAACCAGGCTGAAGGTGACATGTGCTCAAATTCTACCTCTGAAACAACTCTTTTCTGTAGATATGCTAAGCTCCAGGGCCTGTCCTGAATTTAATTTCTCTTTTACTTATTGTAACGACTTTGTGTCTTCAGATGGCAAAGCTAGAGGCAAAGGAGGAGGGTCTTGTCATGTGAGACTGGGATCTTTTTTTTTTTTTTTTTTTTTTAAAGAAAATGAGGAAGACTAGCTAGAGCACATTAGGGATAATTTTGAATGAAACACATGTGAGTGAACAGCAGAGACTTTATTTCTCTCCAGGTGGGGTATCCCTAGTAGAGCAAATGTTTCAGGATCCCAGACTATCCCAGAACAAGCAGGCCCTGGAGGGCCTGGGAGACCTAAAGCTGCTATTTGAATACCTGACTTTATTTGGAATTGCTGATAAGGTAAGCTGAATTGCAAATGGACCTCCTGCTGAGCTCTAGGGCTCTCAGGGTCCCGAGTCTAGTTTGGGACTGACTGTAATCTTGTCCCCACAGATCTCCTTTGACCTCAGCCTGGCTCGGGGCCTAGACTACTATACAGGAGTGATCTATGAAGCAGTGCTGCTGCAGACCCCAACTCAGGCTGGGGAGGAGCCCCTGAATGTGGGCAGTGTGGCTGCTGGTGGGCGCTATGATGGGCTGGTGGGCATGTTTGACCCCAAGGGCCACAAGGTGCCATGTGTGGGACTCAGCATTGGGGTTGAGCGAATCTTCTACATTGTGGAGCAGAGGATGAAGGTAGGTCCTAGATAGGTGTGAGGTGGGGCTGGAGACCTAAAAACCCTCCTGTTTCTGGAGGTGTAGTTGGAGTGGTTTTCTGATGATTCTTTTTGTCTTGATTTTTGGAATTGCTGGTGGAAAGGAGGTTTTTATTAGTTTTACTTTCTTCTCTCTTATTAGACCAAAGGTGAGAAGGTGCGGACTACAGAGACTCAAGTGTTTGTGGCCACACCACAGAAGAACTTTCTCCAAGAACGGTTGAAGCTTATTGCAGAGCTTTGGGATTCTGGAATCAAGGTATGGTGGAGCTGATATCTGAGCCATCTGGGTATGTGTGGAATTTAGGACCCAGGGCTATATCTATCTTATGTCTGGGGTGGAACTCAAAACCTTTTTAGTCTGCTAGCTACTACTGGCTACTAGATTGGCTTTTTAGGGTAGGCGGACTAGCCACTTATCTCTGGCTTTCTTGGATATCCATGTTCCTGAGGTTTGTTGCTGTGTTCACTTCTAAGTCCCTTACTCTGTCTTGATCCTTTTCAGGCAGAGATGCTATACAAGAACAACCCCAAACTATTAACCCAGCTGCACTATTGTGAGAGCACAGGCATTCCACTGGTGGTCATTATTGGTGAGCAAGAACTGAAAGAAGGGGTCATCAAGATCCGTTCAGTGGCCAGCAGAGAGGAGGTGAGTGGCGGCAGCAGAAATAGAAGGGACGAAGTATTTCTGCCTTTCCCAGATTCTGTAAGAAATATGCATCTTCTGGCTGAGA
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AAAGAGTACGTGCAACCTCACTCACTTCTTCAATGGCGTTCAGTGTCCCAAAGGGCTTCTCATCTGTGTTTTGGAGTCATGCTTTCAACTGTGGCTCATTCTGTTTGACCCCTATAGGAAACCCTGACTGAGAAGTATGGAGAGGACTCTGGGCTCATGTATGATCTGAAGGATCAAGGTGGAGAGCTGTTGTCCCTCCGCTATGACCTTACTGTATCCTTTTGAGTACTGGAGCCTGACCTGTCTCTTTCCAAATCCAGCGGGCTTTCTCTGACAAAAGTGGAGAACGTGACTTTGGGATCTTAGAGGTCCATTGCCTATACTTCTAGTTTCTCCCAGAAGGCAGTTCTGCTACGGAAGCCTGGCCTGGAGCCCTGTCATTTAACTCTAGTGTGTATCATAATCCTTTGGGGGAGCTTGCAGAAGCACAGACATTTGGCTGCAGTCCCAGAGATTCTTAGCTAATTCTGTAGCTGGAATGGGGCTCAATAATTTGTATTAAAAAATTGTTTTTTTTGGCCAGACACGTGGCTCACGCCTGTAATCCAAGCCCTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATAGTGAAACCCCATCTCTACTCAGCTCCTGCTGAGCTCTGGGGCTCTCAGGTTCTGAGTCTAGTTTGGGACTGACTGTCACCTTGTCTCCACAGATCTCTTTTGACGTAAAAAGTTAGCTGGCTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCTGTCTCAAAAAAAAAATTTTTTTTGTGGAGATGGGTGTCTTTGTTGCCCAGGCTGGTTGTAAACTCATCGTTTCAAGTGATCCTCCCATCTTGGCCTCCTAAAGTGCTGGGGTTACGGGTGTGAGCCACTGCATCTGGCCTACAGTCTGCATTTTAAACAAGCATCGTGGGTAATTAAGATGCATGTAGTCCTTTCCCTGCACTTTCAGAACCAGTAGCTTAGAAGTTGTTAGGCAAATCCAAGTTCTGAAGCTTGACTATTTTGAGATGGTTCGGAATCGATCTGAATGGGCAGAAAGACCTGAAGTTAGTTCTTGGGTCACTTCTATCTCTACTTGCCTTGCTTTCTGCTGAACTTTTAGTTTTGCTAGGTGAGATTCCTTCATTTGACACTATTCAATATATATTGAATTCCAAGCACTGCTAGGCCTTGGGGATAGTGGAAAAAAGGGAAGGTCCTTGTTCTTACCCTAGTGGATGAGATCCAGGCCCAGTCCTCCCTAATGTCTGTATACTGGGCCTAATCTTTGGATGCAGTATCCCTCTTCCTTAACCCATTTATGTGAGGTTCCCTTTGCTCGTTATCTGGCCATGAATAAGGTGAAGAAGATGAAACGTTATCATGTTGGAAAGGTGTGGCGGCGAGAGAGCCCAACCATAGTCCAAGGCCGTTATAGGGAGTTCTGCCAGTGTGTAAGTGACCTGATGGGAGCAGCACAGTTTGATAGTTCTAGGGGCCACAACCTTGAAACTGGCTGGATAATGGATGTTTTTTCCCATCTTTTTCTTTGCTGTAGGATTTTGACATTGCTGGTCAGTTTGACCCTATGATCCCCGATGCAGAGTGTTTGAAGATCATGTGTGAAATCCTAAGTGGATTGCAGTTGGGAGACTTTCTCATTAAGGTGAGGCCAGGGCTGAGAACTGTGGGAGAAGTCTGGATTTGGCCTAATACTGTTTATGCAAGTCCCAAACTTGGGTGACTCCAACCCTTAAGCCTGCAACTGTAGGACTTTCCTAGTAAAGCTGTTGTATTTCCTATATGTCTGTACTCTTCCTGTGAAATTTCCATCCTTTTTGTGTGTCAGGAAAGTAGGTACTGCCATTGTTTTGAGTGGAAGGGCATTGACAAGCACTTGGGTCACTGACATTGAGTTCTCAGGTAAATGACCGGCAGATTGTGGATGGGATGTTTGCTGTCTGTGGTGTTCCTGAAAGCAAGTTCCGTGCCATCTGCTCCTCCATAGATAAACTAGACAAGGTAACAAAGAAGACATACTTCAGTAGACCCTATCTAGCTTCTGCCCTGCCCTCAAATCCATACCACTAGTGAAAAATAAGGAGATTGTGGCTGGAAGTGGGCTATTTTGGGGTGGAAGGTAAGGAGGCATACTCTGAAGGAAGATCTGAGTCATGCTATACAGTGGGGATTGTGACTGGATTTCTTAAGCTGTCTCTGACTTTGCTGAGTATACAGTTAGCTACTTGTGATGTATATACTGAATGGAAGTTGAGTTGTCCTTTTTCAGTTTGAGAAAGAAAGATCTTGGGGCTGGGCTAATGTTTGGGTGTTTATGCAGATGGCTTGGAAAGATGTGAGACATGAGATGGTGGTGAAGAAAGGCCTGGCTCCTGAGGTGGCTGATCGAATTGGGGACTATGTCCAGTGTCATGGTAAGAACCAGGGTTTTCAGAGCTGTGATAGAACCAGGCTGAAGGTGACATGTGCTCAAATTCTACCTCTGAAACAACTCTTTTCTGTAGATATGCTAAGCTCCAGGGCCTGTCCTGAATTTAATTTCTCTTTTACTTATTGTAACGACTTTGTGTCTTCAGATGGCAAAGCTAGAGGCAAAGGAGGAGGGTCTTGTCATGTGAGACTGGGATCTTTTTTTTTTTTTTTTTTTTTTAAAGAAAATGAGGAAGACTAGCTAGAGCACATTAGGGATAATTTTGAATGAAACACATGTGAGTGAACAGCAGAGACTTTATTTCTCTCCAGGTGGGGTATCCCTAGTAGAGCAAATGTTTCAGGATCCCAGACTATCCCAGAACAAGCAGGCCCTGGAGGGCCTGGGAGACCTAAAGCTGCTATTTGAATACCTGACTTTATTTGGAATTGCTGATAAGGTAAGCTGAATTGCAAATGGACCTCCTGCTGAGCTCTAGGGCTCTCAGGGTCCCGAGTCTAGTTTGGGACTGACTGTAATCTTGTCCCCACAGATCTCCTTTGACCTCAGCCTGGCTCGGGGCCTAGACTACTATACAGGAGTGATCTATGAAGCAGTGCTGCTGCAGACCCCAACTCAGGCTGGGGAGGAGCCCCTGAATGTGGGCAGTGTGGCTGCTGGTGGGCGCTATGATGGGCTGGTGGGCATGTTTGACCCCAAGGGCCACAAGGTGCCATGTGTGGGACTCAGCATTGGGGTTGAGCGAATCTTCTACATTGTGGAGCAGAGGATGAAGGTAGGTCCTAGATAGGTGTGAGGTGGGGCTGGAGACCTAAAAACCCTCCTGTTTCTGGAGGTGTAGTTGGAGTGGTTTTCTGATGATTCTTTTTGTCTTGATTTTTGGAATTGCTGGTGGAAAGGAGGTTTTTATTAGTTTTACTTTCTTCTCTCTTATTAGACCAAAGGTGAGAAGGTGCGGACTACAGAGACTCAAGTGTTTGTGGCCACACCACAGAAGAACTTTCTCCAAGAACGGTTGAAGCTTATTGCAGAGCTTTGGGATTCTGGAATCAAGGTATGGTGGAGCTGATATCTGAGCCATCTGGGTATGTGTGGAATTTAGGACCCAGGGCTATATCTATCTTATGTCTGGGGTGGAACTCAAAACCTTTTTAGTCTGCTAGCTACTACTGGCTACTAGATTGGCTTTTTAGGGTAGGCGGACTAGCCACTTATCTCTGGCTTTCTTGGATATCCATGTTCCTGAGGTTTGTTGCTGTGTTCACTTCTAAGTCCCTTACTCTGTCTTGATCCTTTTCAGGCAGAGATGCTATACAAGAACAACCCCAAACTATTAACCCAGCTGCACTATTGTGAGAGCACAGGCATTCCACTGGTGGTCATTATTGGTGAGCAAGAACTGAAAGAAGGGGTCATCAAGATCCGTTCAGTGGCCAGCAGAGAGGAGGTGAGTGGCGGCAGCAGAAATAGAAGGGACGAAGTATTTCTGCCTTTCCCAGATTCTGTAAGAAATATGCATCTTCTGGCTGAGA
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Task1_train_9584
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This variant affects the gene HARS2 (histidyl-tRNA synthetase 2, mitochondrial) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Perrault syndrome
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TCCATCCTTTTTGTGTGTCAGGAAAGTAGGTACTGCCATTGTTTTGAGTGGAAGGGCATTGACAAGCACTTGGGTCACTGACATTGAGTTCTCAGGTAAATGACCGGCGGATTGTGGATGGGATGTTTGCTGTCTGTGGTGTTCCTGAAAGCAAGTTCCGTGCCATCTGCTCCTCCATAGATAAACTAGACAAGGTAACAAAGAAGACATACTTCAGTAGACCCTATCTAGCTTCTGCCCTGCCCTCAAATCCATACCACTAGTGAAAAATAAGGAGATTGTGGCTGGAAGTGGGCTATTTTGGGGTGGAAGGTAAGGAGGCATACTCTGAAGGAAGATCTGAGTCATGCTATACAGTGGGGATTGTGACTGGATTTCTTAAGCTGTCTCTGACTTTGCTGAGTATACAGTTAGCTACTTGTGATGTATATACTGAATGGAAGTTGAGTTGTCCTTTTTCAGTTTGAGAAAGAAAGATCTTGGGGCTGGGCTAATGTTTGGGTGTTTATGCAGATGGCTTGGAAAGATGTGAGACATGAGATGGTGGTGAAGAAAGGCCTGGCTCCTGAGGTGGCTGATCGAATTGGGGACTATGTCCAGTGTCATGGTAAGAACCAGGGTTTTCAGAGCTGTGATAGAACCAGGCTGAAGGTGACATGTGCTCAAATTCTACCTCTGAAACAACTCTTTTCTGTAGATATGCTAAGCTCCAGGGCCTGTCCTGAATTTAATTTCTCTTTTACTTATTGTAACGACTTTGTGTCTTCAGATGGCAAAGCTAGAGGCAAAGGAGGAGGGTCTTGTCATGTGAGACTGGGATCTTTTTTTTTTTTTTTTTTTTTTAAAGAAAATGAGGAAGACTAGCTAGAGCACATTAGGGATAATTTTGAATGAAACACATGTGAGTGAACAGCAGAGACTTTATTTCTCTCCAGGTGGGGTATCCCTAGTAGAGCAAATGTTTCAGGATCCCAGACTATCCCAGAACAAGCAGGCCCTGGAGGGCCTGGGAGACCTAAAGCTGCTATTTGAATACCTGACTTTATTTGGAATTGCTGATAAGGTAAGCTGAATTGCAAATGGACCTCCTGCTGAGCTCTAGGGCTCTCAGGGTCCCGAGTCTAGTTTGGGACTGACTGTAATCTTGTCCCCACAGATCTCCTTTGACCTCAGCCTGGCTCGGGGCCTAGACTACTATACAGGAGTGATCTATGAAGCAGTGCTGCTGCAGACCCCAACTCAGGCTGGGGAGGAGCCCCTGAATGTGGGCAGTGTGGCTGCTGGTGGGCGCTATGATGGGCTGGTGGGCATGTTTGACCCCAAGGGCCACAAGGTGCCATGTGTGGGACTCAGCATTGGGGTTGAGCGAATCTTCTACATTGTGGAGCAGAGGATGAAGGTAGGTCCTAGATAGGTGTGAGGTGGGGCTGGAGACCTAAAAACCCTCCTGTTTCTGGAGGTGTAGTTGGAGTGGTTTTCTGATGATTCTTTTTGTCTTGATTTTTGGAATTGCTGGTGGAAAGGAGGTTTTTATTAGTTTTACTTTCTTCTCTCTTATTAGACCAAAGGTGAGAAGGTGCGGACTACAGAGACTCAAGTGTTTGTGGCCACACCACAGAAGAACTTTCTCCAAGAACGGTTGAAGCTTATTGCAGAGCTTTGGGATTCTGGAATCAAGGTATGGTGGAGCTGATATCTGAGCCATCTGGGTATGTGTGGAATTTAGGACCCAGGGCTATATCTATCTTATGTCTGGGGTGGAACTCAAAACCTTTTTAGTCTGCTAGCTACTACTGGCTACTAGATTGGCTTTTTAGGGTAGGCGGACTAGCCACTTATCTCTGGCTTTCTTGGATATCCATGTTCCTGAGGTTTGTTGCTGTGTTCACTTCTAAGTCCCTTACTCTGTCTTGATCCTTTTCAGGCAGAGATGCTATACAAGAACAACCCCAAACTATTAACCCAGCTGCACTATTGTGAGAGCACAGGCATTCCACTGGTGGTCATTATTGGTGAGCAAGAACTGAAAGAAGGGGTCATCAAGATCCGTTCAGTGGCCAGCAGAGAGGAGGTGAGTGGCGGCAGCAGAAATAGAAGGGACGAAGTATTTCTGCCTTTCCCAGATTCTGTAAGAAATATGCATCTTCTGGCTGAGAAATTATCTTCATGGTTAATAGTGGTAGAGATGAACAAACACTCACTCAAGATGACCATTGCTGCCTGTGAGTATTGACTGGGTGGCCAGAAGAAAGACAAATGAAATCCGAATGGGTATTTTGAGACTAATCAACATAATAGACATAGATCAGGTGTTTGAATCCCTTTCATCTTGAGGGTATACATTCTTCAGGTCAACCCACACTACTCCTTTCTGGTTGTATAAGTAATGGGAGAAGATGCAGAGTAAAACAAATCTGGAAAAACAGTGGCTAAGGAGTTAGTATCACTTTCTAGTTTATCACATGAGGATTCTCTTATGTTTCAGGTGGCCATTAAACGGGAAAATTTTGTGGCTGAAATTCAGAAGCGACTGTCTGAGTCTTGATCCTTGCCTGATTCCCATCTGCTGCTCTTTGTAGAAAAGGTTTCCTCTAGAACTGAATTCCTCTGGAATTGAGTGATGGACTTCACAACAACTAGCCAGGAAGGGTGACAAGTACCTTCTGCCTCCTCCATTCTTCCTGGGTGCAGAACTGTAGAAGACCCTGAGGACTCCTGGGCTAGTGTGAGCAGCTATTCTGCATGGGTGCAGATGGCTGGATGTGAAAGAGACATGCTCTAGCTGCAGAGGCAAATTTGAAGTGCCACGGAACGTTGTCAAGAGGTAGTGAGATTGTTGCTGTGAGCAAGGCTCTGGGAGAGTCACCTCAGGCTCAGGATTCTGAACCATTGAGATCAGAAACCAGATACTTAGCCTTCTACTGTAGCTACGGAACCAGATTCTGGTGAATTTGTCCACAATCAGCCATTGGCCTGTCTGGGGAGTTTTTGGAAGACAGCAAAGAGGGGCAATGGCTGCTTTCAGCTTTGAGGACAGATGCTATCCTAAGGGCATGGCAGTACCCATGTTGATTTGACATCTCTCTAGCCCATCCATTGCTTACAGTAGAAGAGTGGGGCTGTATGCTTGATAATCTTGAACATTGAACTTAATAGATGACTTGACAAGGTAGAGATCTGATATTTTGAGATTTTGGAGACCATTTCCTGTGCCAGAATCACTGCTCTATTCCATACCGTGCCATGGAGGCTGTTTTAGAAGTGGTTGGATAACATGTTAAATAAAATATTAAGTGTAGTAGTTTGGGTAATTTGTTATTGTTATCAAGGGCTTTGTTTGCATAGACCATAGAAAATGCTTGAGTGTACATTGGAGAATTCTGTGAGGTAGAAGTAACCTCCCTGGGATGATGCTTCTGTATTCAGTGATGAGCAGCCACAGTTTCTCCCTCTTTCCCTGTCTCCTCAAGAGGTAGTTTTTTTGTTTGTTTGTTTTTAGACGGAGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGAGATTCTCCTGCTTCAGCCTCCCGAGTAGCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCAAGAGGTAGTTTTGTTGCTAAAAATCAACATATAGTGAGCCGGTATGCCACAGTGCTTCACTCTAGAGTGTTGTTGATGACTGGCCTTTCCAAATCCAATTATGCTGATTAAATTATGTTCTACTATAAAGTTCCCCAGATGATGGAAAAATAAGTGAACCAAAGGGTGGTAGCATTGCTTCAAGGAAAAGAGCCCAAGTGCAAAACATGCTTTTTATATGTGCGTCGGGAAGGGTGCCTCTGTTGCAAACGTTTCAGTGTAGTTTAGGGTCATATCCCTAGTGCATGCAGGTGAATGAGAGGCATCTAGACCCCCTAATGGCGCTTCGGCCTTAAAAAAGGTTTAGA
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TCCATCCTTTTTGTGTGTCAGGAAAGTAGGTACTGCCATTGTTTTGAGTGGAAGGGCATTGACAAGCACTTGGGTCACTGACATTGAGTTCTCAGGTAAATGACCGGCGGATTGTGGATGGGATGTTTGCTGTCTGTGGTGTTCCTGAAAGCAAGTTCCGTGCCATCTGCTCCTCCATAGATAAACTAGACAAGGTAACAAAGAAGACATACTTCAGTAGACCCTATCTAGCTTCTGCCCTGCCCTCAAATCCATACCACTAGTGAAAAATAAGGAGATTGTGGCTGGAAGTGGGCTATTTTGGGGTGGAAGGTAAGGAGGCATACTCTGAAGGAAGATCTGAGTCATGCTATACAGTGGGGATTGTGACTGGATTTCTTAAGCTGTCTCTGACTTTGCTGAGTATACAGTTAGCTACTTGTGATGTATATACTGAATGGAAGTTGAGTTGTCCTTTTTCAGTTTGAGAAAGAAAGATCTTGGGGCTGGGCTAATGTTTGGGTGTTTATGCAGATGGCTTGGAAAGATGTGAGACATGAGATGGTGGTGAAGAAAGGCCTGGCTCCTGAGGTGGCTGATCGAATTGGGGACTATGTCCAGTGTCATGGTAAGAACCAGGGTTTTCAGAGCTGTGATAGAACCAGGCTGAAGGTGACATGTGCTCAAATTCTACCTCTGAAACAACTCTTTTCTGTAGATATGCTAAGCTCCAGGGCCTGTCCTGAATTTAATTTCTCTTTTACTTATTGTAACGACTTTGTGTCTTCAGATGGCAAAGCTAGAGGCAAAGGAGGAGGGTCTTGTCATGTGAGACTGGGATCTTTTTTTTTTTTTTTTTTTTTTAAAGAAAATGAGGAAGACTAGCTAGAGCACATTAGGGATAATTTTGAATGAAACACATGTGAGTGAACAGCAGAGACTTTATTTCTCTCCAGGTGGGGTATCCCTAGTAGAGCAAATGTTTCAGGATCCCAGACTATCCCAGAACAAGCAGGCCCTGGAGGGCCTGGGAGACCTAAAGCTGCTATTTGAATACCTGACTTTATTTGGAATTGCTGATAAGGTAAGCTGAATTGCAAATGGACCTCCTGCTGAGCTCTAGGGCTCTCAGGGTCCCGAGTCTAGTTTGGGACTGACTGTAATCTTGTCCCCACAGATCTCCTTTGACCTCAGCCTGGCTCGGGGCCTAGACTACTATACAGGAGTGATCTATGAAGCAGTGCTGCTGCAGACCCCAACTCAGGCTGGGGAGGAGCCCCTGAATGTGGGCAGTGTGGCTGCTGGTGGGCGCTATGATGGGCTGGTGGGCATGTTTGACCCCAAGGGCCACAAGGTGCCATGTGTGGGACTCAGCATTGGGGTTGAGCGAATCTTCTACATTGTGGAGCAGAGGATGAAGGTAGGTCCTAGATAGGTGTGAGGTGGGGCTGGAGACCTAAAAACCCTCCTGTTTCTGGAGGTGTAGTTGGAGTGGTTTTCTGATGATTCTTTTTGTCTTGATTTTTGGAATTGCTGGTGGAAAGGAGGTTTTTATTAGTTTTACTTTCTTCTCTCTTATTAGACCAAAGGTGAGAAGGTGCGGACTACAGAGACTCAAGTGTTTGTGGCCACACCACAGAAGAACTTTCTCCAAGAACGGTTGAAGCTTATTGCAGAGCTTTGGGATTCTGGAATCAAGGTATGGTGGAGCTGATATCTGAGCCATCTGGGTATGTGTGGAATTTAGGACCCAGGGCTATATCTATCTTATGTCTGGGGTGGAACTCAAAACCTTTTTAGTCTGCTAGCTACTACTGGCTACTAGATTGGCTTTTTAGGGTAGGCGGACTAGCCACTTATCTCTGGCTTTCTTGGATATCCATGTTCCTGAGGTTTGTTGCTGTGTTCACTTCTAAGTCCCTTACTCTGTCTTGATCCTTTTCAGGCAGAGATGCTATACAAGAACAACCCCAAACTATTAACCCAGCTGCACTATTGTGAGAGCACAGGCATTCCACTGGTGGTCATTATTGGTGAGCAAGAACTGAAAGAAGGGGTCATCAAGATCCATTCAGTGGCCAGCAGAGAGGAGGTGAGTGGCGGCAGCAGAAATAGAAGGGACGAAGTATTTCTGCCTTTCCCAGATTCTGTAAGAAATATGCATCTTCTGGCTGAGAAATTATCTTCATGGTTAATAGTGGTAGAGATGAACAAACACTCACTCAAGATGACCATTGCTGCCTGTGAGTATTGACTGGGTGGCCAGAAGAAAGACAAATGAAATCCGAATGGGTATTTTGAGACTAATCAACATAATAGACATAGATCAGGTGTTTGAATCCCTTTCATCTTGAGGGTATACATTCTTCAGGTCAACCCACACTACTCCTTTCTGGTTGTATAAGTAATGGGAGAAGATGCAGAGTAAAACAAATCTGGAAAAACAGTGGCTAAGGAGTTAGTATCACTTTCTAGTTTATCACATGAGGATTCTCTTATGTTTCAGGTGGCCATTAAACGGGAAAATTTTGTGGCTGAAATTCAGAAGCGACTGTCTGAGTCTTGATCCTTGCCTGATTCCCATCTGCTGCTCTTTGTAGAAAAGGTTTCCTCTAGAACTGAATTCCTCTGGAATTGAGTGATGGACTTCACAACAACTAGCCAGGAAGGGTGACAAGTACCTTCTGCCTCCTCCATTCTTCCTGGGTGCAGAACTGTAGAAGACCCTGAGGACTCCTGGGCTAGTGTGAGCAGCTATTCTGCATGGGTGCAGATGGCTGGATGTGAAAGAGACATGCTCTAGCTGCAGAGGCAAATTTGAAGTGCCACGGAACGTTGTCAAGAGGTAGTGAGATTGTTGCTGTGAGCAAGGCTCTGGGAGAGTCACCTCAGGCTCAGGATTCTGAACCATTGAGATCAGAAACCAGATACTTAGCCTTCTACTGTAGCTACGGAACCAGATTCTGGTGAATTTGTCCACAATCAGCCATTGGCCTGTCTGGGGAGTTTTTGGAAGACAGCAAAGAGGGGCAATGGCTGCTTTCAGCTTTGAGGACAGATGCTATCCTAAGGGCATGGCAGTACCCATGTTGATTTGACATCTCTCTAGCCCATCCATTGCTTACAGTAGAAGAGTGGGGCTGTATGCTTGATAATCTTGAACATTGAACTTAATAGATGACTTGACAAGGTAGAGATCTGATATTTTGAGATTTTGGAGACCATTTCCTGTGCCAGAATCACTGCTCTATTCCATACCGTGCCATGGAGGCTGTTTTAGAAGTGGTTGGATAACATGTTAAATAAAATATTAAGTGTAGTAGTTTGGGTAATTTGTTATTGTTATCAAGGGCTTTGTTTGCATAGACCATAGAAAATGCTTGAGTGTACATTGGAGAATTCTGTGAGGTAGAAGTAACCTCCCTGGGATGATGCTTCTGTATTCAGTGATGAGCAGCCACAGTTTCTCCCTCTTTCCCTGTCTCCTCAAGAGGTAGTTTTTTTGTTTGTTTGTTTTTAGACGGAGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGAGATTCTCCTGCTTCAGCCTCCCGAGTAGCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCAAGAGGTAGTTTTGTTGCTAAAAATCAACATATAGTGAGCCGGTATGCCACAGTGCTTCACTCTAGAGTGTTGTTGATGACTGGCCTTTCCAAATCCAATTATGCTGATTAAATTATGTTCTACTATAAAGTTCCCCAGATGATGGAAAAATAAGTGAACCAAAGGGTGGTAGCATTGCTTCAAGGAAAAGAGCCCAAGTGCAAAACATGCTTTTTATATGTGCGTCGGGAAGGGTGCCTCTGTTGCAAACGTTTCAGTGTAGTTTAGGGTCATATCCCTAGTGCATGCAGGTGAATGAGAGGCATCTAGACCCCCTAATGGCGCTTCGGCCTTAAAAAAGGTTTAGA
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Task1_train_9585
|
Assess the clinical impact of this variant on gene PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA10, PCDHGA11, PCDHG@, PCDHGA1, PCDHGA12, PCDHGA2, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4 (protocadherin gamma subfamily A, 3| protocadherin gamma subfamily A, 4| protocadherin gamma subfamily A, 5| protocadherin gamma subfamily A, 10| protocadherin gamma subfamily A, 11| protocadherin gamma cluster| protocadherin gamma subfamily A, 1| protocadherin gamma subfamily A, 12| protocadherin gamma subfamily A, 2| protocadherin gamma subfamily A, 6| protocadherin gamma subfamily A, 7| protocadherin gamma subfamily A, 8| protocadherin gamma subfamily A, 9| protocadherin gamma subfamily B, 1| protocadherin gamma subfamily B, 2| protocadherin gamma subfamily B, 3| protocadherin gamma subfamily B, 4| protocadherin gamma subfamily B, 5| protocadherin gamma subfamily B, 6| protocadherin gamma subfamily B, 7| protocadherin gamma subfamily C, 3| protocadherin gamma subfamily C, 4), found on Chromosome 5. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Neurodevelopmental disorder with poor growth and skeletal anomalies
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GAGACGGAAGCTACTCATTTAGAATACTGGTTGATGACAACACTGGCTTGAACAAAGTGACCACTCTCCAATGGCTACTCTCCCTCTCAGTGGGCCGCAGGTTGCTAGGGCTCAGGCTGTGGCTGTTTTCCCCGCCGAAAAGGGGCGGGGTCAGTCGGTGTGTTAGGAAAAAAAATGTATATATATATATATGTTGTCTGCCTCCCCACAGAGATAACAACCCGTGGAAAAACATGCCGTTGAGCGGGAGGAAGGCGAAAAGATAGGCTGGGTTTTTTGGGGGGTGGGGGAGCGTGGAGGATAGGGTGGGCTTTTTCCCCTCCAATGCTGCGACGCATTAACCCTGCTGCTGTTGGGACGTTCTCTGCTCAGCCTATTGGCTGAGCCCGGGAGCCGCTGTCTGCCAATCGGGTGGTGAAAGGCAGACAAATCTACCCCGCCACCAGCAAAAACGGCGCGTAACCCTTGCGGCGCCGGCCGAACCGCGCCAGAGCTGGCGCGGGGAAAGGGAGATAGGTGTCTCCAGCTGCTGTGGCTGTTTGGGGCGGGTCGGCTTCATCCGCGTCTCAGGAGCAAGTAGAGAATTAGCGGGCGGCAGCAATGCTCCGCAAGGTGAGAAGCTGGACAGAAATCTGGCGGTGGGCTACCCTTTTGTTCCTCTTTTACCACCTGGGTTACGTTTGTGGGCAGATCCGCTACCCGGTCCCAGAGGAGTCACAGGAAGGGACTTTTGTAGGGAATGTCGCTCAAGATTTCCTGCTGGATACGGACAGTCTGTCAGCTCGCAGGCTGCAGGTCGCTGGAGAGGTGAACCAAAGACACTTCCGTGTGGATTTGGACAGCGGAGCCCTGCTCATCAAGAACCCAATCGACCGAGAGGCACTGTGTGGGCTCAGTGCCAGCTGCATCGTGCCCCTGGAGTTTGTCACCGAAGGTCCTTTGGAAATGTACCGAGCAGAGGTAGAGATCGTAGATGTGAATGATCACGCCCCCCGTTTTCCGCGGCAGCAGCTGGACTTGGAAATTGGGGAGGCAGCTCCTCCAGGACAGCGTTTCCCGTTGGAAAAGGCTCAGGATGCAGATGTGGGGAGCAATTCGATTAGCAGCTATAGGCTGAGCTCCAATGAACACTTTGCACTGGATGTGAAGAAGCGCAGCGACGGCAGCCTGGTCCCAGAGCTGCTCCTGGAGAAGCCTTTGGATCGAGAGAAGCAATCGGACTACCGCCTGGTGCTGACTGCTGTCGATGGAGGGAACCCGCCGAGATCTGGCACCGCAGAGCTCCGGGTATCCGTGCTGGACGTAAACGACAACGCCCCAGCCTTCCAGCAATCCAGCTACAGGATTAGTGTGTTGGAGAGCGCACCAGCGGGCATGGTGCTCATCCAGCTCAATGCCTCAGACCCGGACCTGGGTCCCAGTGGTAACGTCACCTTTTATTTCAGTGGTCATACCCCTGATCGTGTAAGAAACCTCTTTAGCCTGCACCCCACTACTGGAAAGCTTACTCTTTTGGGGCCCCTAGACTTTGAGAGTGAGAATTACTATGAATTTGATGTGCGGGCTCGCGATGGGGGTTCTCCAGCCATGGAGCAACATTGCAGCCTTCGAGTGGATCTGCTGGACGTAAATGACAATGCCCCTTACATCACAGTGACCTCAGAGCTTGGAACCCTCCCCGAGAGTGCAGAACCTGGCACTGTGGTGGCACTTATCAGTGTGCAGGATCCAGACTCAGGGTCAAACGGAGATGTGAGCCTCCGCATTCCTGACCACTTGCCATTTGCCCTCAAGTCTGCCTTCAGGAACCAGTTCTCCCTGGTGACTGCTGGACCCTTGGATCGAGAGGCCAAATCTAGCTATGACATCATGGTCACTGCTTCTGATGCTGGGAACCCTCCTCTCAGTACCCACAGAACTATTTTCCTCAATATTTCAGATGTGAATGATAATCCACCCTCTTTCTTTCAGAGGTCACATGAGGTGTTTGTTCCTGAGAACAATCGCCCAGGGGACCTGCTTTGCTCCCTTGCAGCCTCTGACCCAGACTCTGGCTTGAATGCGCTTATCTCCTACTCACTCCTGGAGCCCAGGAATCGAGATGTATCAGCTTCCTCTTTCATCTCTCTGAACCCCCAGACAGGAGCTGTTCATGCTACTCGATCCTTTGACTATGAGCAAACCCAGACACTGCAGTTTGAGGTGCAGGCCCGGGATCGGGGCAACCCACCCCTTAGCAGCACTGTAACAGTTCGTCTATTTGTGCTGGACCTCAATGACAATGCTCCAGCTGTGCTCCGTCCTCGGGCCCGGCCTGGTTCCTTATGTCCCCAAGCACTGCCTCCATCAGTTGGTGCTGGCCACCTAATCACAAAGGTGACTGCTGTGGACTTGGATTCAGGTTACAATGCTTGGGTTTCCTATCAGCTCCTGGAGGCCCCAGATCCCAGCCTGTTTGCAGTCTCTCGATATGCTGGGGAGGTGCGGACGGCTGTTCCTATCCCAGCTGACCTCCCACCACAGAAGCTGGTCATTGTGGTAAAGGATAGTGGTAGTCCACCACTCTCTACCTCTGTTACTCTCTTAGTGTCCTTAGAGGAAGACACTCATCCAGTTGTCCCAGATCTTCGAGAATCTTCAGCTCCAAGGGAAGGAGAATCTCGTCTAACCCTCTACTTGGCTGTGTCCCTAGTGGCAATTTGCTTTGTCTCCTTTGGCTCATTCGTGGCACTACTCTCTAAGTGTCTTCGTGGGGCAGCCTGTGGAGTCACATGCTTTCCTGCTGGCACCTGTGCCTGTCTCACCAGATCTCGAAGGAGGGAGGGGCTTCCCCCTTCCAATGGGATCCTCCGAATCCAGCTAGGGTCAGATGACCCTATCAAGTTTGTTGATGTGGGAGGCCACTCTCATGGCTGTACACCCTTGGCTTCTGCACCCACTCGGAGTGATAGCTTCATGATGGTGAAGTCACCCAGTGCACCTATGGCAGGGGAGCCTGTTCGCCCAAGCTGCCCACCCTCTGATCTTCTCTATGGGCTAGAGGTGAGACCTTTGCAGGCTCAACAAATGCTTGAGGGTTATTCTGATCCAGGCATATGGCTAGGCCATGTCCTAGAGAGTACTGGCCTCTCAGTAAGTGCCCATAGTGATGTCACCATTTTTGTAAGAGGTAACTATGTGGTAGACGCTGTGCTTTGTAACTGTTTCGTGAATTAACCAGAGTTGTCACAGTTTAGCATTGGGGGCGGGTCATGCCTATATCTGAGTAAGAAATGAAAGTAATTGGTGATCAAGAGCCAGGCTGTTGTGGAAGCATGATGATGGAATGTGGGAGCACAGGAGGCTACAGTGCACAGGGTACAGTGCACCAGGCAGTCACTTGGACAAAGGTGGCTGTTTTCTCTACTCTTCCTGAAAGAGGGGATCAGATTCTGAAGTACCTTAACTCTAGGTTACCATTTCCCAAGGGATTGAGGGGAAATAAAATCTTTGTCTCCCAGTATCTAGTACACTGTGAAGGGACCTCTCTATTTGAAACATAGAGACAGCAGAAAGAGGAGAGAACTAAAGGAATAGAGAGGCACGCATCAGAGTGGTGGCATAGATCTTTTGGTCTGGGTCTTAGGACTCATATCAAGTCCCTACTGGGGATTTGAACTAGATGCGGTAAATTGGAAGGTTGGGGCGGGTTGGTCATCACCTTTGGAAAAAACAGTAAGTGAAATCACTTATGTCAGAAAACTGGTTTACAGTTGGCTGATTCATAGAAACAGCCACCCTGTGCATCTTTAAGTTGAGTTCTCCTGAATTTGGTGAAACCATGAAACCTAGAAGCCAAGCCATCCATGCTTGGCCTCTGACCACCCTCCTGGGTGACCTGATTCAGCCCCAGAAATGTTCCCCTACCCAAAAACTGTAACACTCATTCCACATTTGGGGTCTGGGGTGTCAGAAAAGCTAAGTCCCATGTCAGCTGACATTGAGATTTCCGCAAAGCATTGCTGGAGAGTCAGGGCAAGACTTTACAAGGTTCTTACTAATCTTTTCTCTCACCTTAGCAGCATTCAGCAGGATGGGGGAGGGTGGGGGAATACAT
|
GAGACGGAAGCTACTCATTTAGAATACTGGTTGATGACAACACTGGCTTGAACAAAGTGACCACTCTCCAATGGCTACTCTCCCTCTCAGTGGGCCGCAGGTTGCTAGGGCTCAGGCTGTGGCTGTTTTCCCCGCCGAAAAGGGGCGGGGTCAGTCGGTGTGTTAGGAAAAAAAATGTATATATATATATATGTTGTCTGCCTCCCCACAGAGATAACAACCCGTGGAAAAACATGCCGTTGAGCGGGAGGAAGGCGAAAAGATAGGCTGGGTTTTTTGGGGGGTGGGGGAGCGTGGAGGATAGGGTGGGCTTTTTCCCCTCCAATGCTGCGACGCATTAACCCTGCTGCTGTTGGGACGTTCTCTGCTCAGCCTATTGGCTGAGCCCGGGAGCCGCTGTCTGCCAATCGGGTGGTGAAAGGCAGACAAATCTACCCCGCCACCAGCAAAAACGGCGCGTAACCCTTGCGGCGCCGGCCGAACCGCGCCAGAGCTGGCGCGGGGAAAGGGAGATAGGTGTCTCCAGCTGCTGTGGCTGTTTGGGGCGGGTCGGCTTCATCCGCGTCTCAGGAGCAAGTAGAGAATTAGCGGGCGGCAGCAATGCTCCGCAAGGTGAGAAGCTGGACAGAAATCTGGCGGTGGGCTACCCTTTTGTTCCTCTTTTACCACCTGGGTTACGTTTGTGGGCAGATCCGCTACCCGGTCCCAGAGGAGTCACAGGAAGGGACTTTTGTAGGGAATGTCGCTCAAGATTTCCTGCTGGATACGGACAGTCTGTCAGCTCGCAGGCTGCAGGTCGCTGGAGAGGTGAACCAAAGACACTTCCGTGTGGATTTGGACAGCGGAGCCCTGCTCATCAAGAACCCAATCGACCGAGAGGCACTGTGTGGGCTCAGTGCCAGCTGCATCGTGCCCCTGGAGTTTGTCACCGAAGGTCCTTTGGAAATGTACCGAGCAGAGGTAGAGATCGTAGATGTGAATGATCACGCCCCCCGTTTTCCGCGGCAGCAGCTGGACTTGGAAATTGGGGAGGCAGCTCCTCCAGGACAGCGTTTCCCGTTGGAAAAGGCTCAGGATGCAGATGTGGGGAGCAATTCGATTAGCAGCTATAGGCTGAGCTCCAATGAACACTTTGCACTGGATGTGAAGAAGCGCAGCGACGGCAGCCTGGTCCCAGAGCTGCTCCTGGAGAAGCCTTTGGATCGAGAGAAGCAATCGGACTACCGCCTGGTGCTGACTGCTGTCGATGGAGGGAACCCGCCGAGATCTGGCACCGCAGAGCTCCGGGTATCCGTGCTGGACGTAAACGACAACGCCCCAGCCTTCCAGCAATCCAGCTACAGGATTAGTGTGTTGGAGAGCGCACCAGCGGGCATGGTGCTCATCCAGCTCAATGCCTCAGACCCGGACCTGGGTCCCAGTGGTAACGTCACCTTTTATTTCAGTGGTCATACCCCTGATCGTGTAAGAAACCTCTTTAGCCTGCACCCCACTACTGGAAAGCTTACTCTTTTGGGGCCCCTAGACTTTGAGAGTGAGAATTACTATGAATTTGATGTGCGGGCTCGCGATGGGGGTTCTCCAGCCATGGAGCAACATTGCAGCCTTCGAGTGGATCTGCTGGACGTAAATGACAATGCCCCTTACATCACAGTGACCTCAGAGCTTGGAACCCTCCCCGAGAGTGCAGAACCTGGCACTGTGGTGGCACTTATCAGTGTGCAGGATCCAGACTCAGGGTCAAACGGAGATGTGAGCCTCCGCATTCCTGACCACTTGCCATTTGCCCTCAAGTCTGCCTTCAGGAACCAGTTCTCCCTGGTGACTGCTGGACCCTTGGATCGAGAGGCCAAATCTAGCTATGACATCATGGTCACTGCTTCTGATGCTGGGAACCCTCCTCTCAGTACCCACAGAACTATTTTCCTCAATATTTCAGATGTGAATGATAATCCACCCTCTTTCTTTCAGAGGTCACATGAGGTGTTTGTTCCTGAGAACAATCGCCCAGGGGACCTGCTTTGCTCCCTTGCAGCCTCTGACCCAGAGTCTGGCTTGAATGCGCTTATCTCCTACTCACTCCTGGAGCCCAGGAATCGAGATGTATCAGCTTCCTCTTTCATCTCTCTGAACCCCCAGACAGGAGCTGTTCATGCTACTCGATCCTTTGACTATGAGCAAACCCAGACACTGCAGTTTGAGGTGCAGGCCCGGGATCGGGGCAACCCACCCCTTAGCAGCACTGTAACAGTTCGTCTATTTGTGCTGGACCTCAATGACAATGCTCCAGCTGTGCTCCGTCCTCGGGCCCGGCCTGGTTCCTTATGTCCCCAAGCACTGCCTCCATCAGTTGGTGCTGGCCACCTAATCACAAAGGTGACTGCTGTGGACTTGGATTCAGGTTACAATGCTTGGGTTTCCTATCAGCTCCTGGAGGCCCCAGATCCCAGCCTGTTTGCAGTCTCTCGATATGCTGGGGAGGTGCGGACGGCTGTTCCTATCCCAGCTGACCTCCCACCACAGAAGCTGGTCATTGTGGTAAAGGATAGTGGTAGTCCACCACTCTCTACCTCTGTTACTCTCTTAGTGTCCTTAGAGGAAGACACTCATCCAGTTGTCCCAGATCTTCGAGAATCTTCAGCTCCAAGGGAAGGAGAATCTCGTCTAACCCTCTACTTGGCTGTGTCCCTAGTGGCAATTTGCTTTGTCTCCTTTGGCTCATTCGTGGCACTACTCTCTAAGTGTCTTCGTGGGGCAGCCTGTGGAGTCACATGCTTTCCTGCTGGCACCTGTGCCTGTCTCACCAGATCTCGAAGGAGGGAGGGGCTTCCCCCTTCCAATGGGATCCTCCGAATCCAGCTAGGGTCAGATGACCCTATCAAGTTTGTTGATGTGGGAGGCCACTCTCATGGCTGTACACCCTTGGCTTCTGCACCCACTCGGAGTGATAGCTTCATGATGGTGAAGTCACCCAGTGCACCTATGGCAGGGGAGCCTGTTCGCCCAAGCTGCCCACCCTCTGATCTTCTCTATGGGCTAGAGGTGAGACCTTTGCAGGCTCAACAAATGCTTGAGGGTTATTCTGATCCAGGCATATGGCTAGGCCATGTCCTAGAGAGTACTGGCCTCTCAGTAAGTGCCCATAGTGATGTCACCATTTTTGTAAGAGGTAACTATGTGGTAGACGCTGTGCTTTGTAACTGTTTCGTGAATTAACCAGAGTTGTCACAGTTTAGCATTGGGGGCGGGTCATGCCTATATCTGAGTAAGAAATGAAAGTAATTGGTGATCAAGAGCCAGGCTGTTGTGGAAGCATGATGATGGAATGTGGGAGCACAGGAGGCTACAGTGCACAGGGTACAGTGCACCAGGCAGTCACTTGGACAAAGGTGGCTGTTTTCTCTACTCTTCCTGAAAGAGGGGATCAGATTCTGAAGTACCTTAACTCTAGGTTACCATTTCCCAAGGGATTGAGGGGAAATAAAATCTTTGTCTCCCAGTATCTAGTACACTGTGAAGGGACCTCTCTATTTGAAACATAGAGACAGCAGAAAGAGGAGAGAACTAAAGGAATAGAGAGGCACGCATCAGAGTGGTGGCATAGATCTTTTGGTCTGGGTCTTAGGACTCATATCAAGTCCCTACTGGGGATTTGAACTAGATGCGGTAAATTGGAAGGTTGGGGCGGGTTGGTCATCACCTTTGGAAAAAACAGTAAGTGAAATCACTTATGTCAGAAAACTGGTTTACAGTTGGCTGATTCATAGAAACAGCCACCCTGTGCATCTTTAAGTTGAGTTCTCCTGAATTTGGTGAAACCATGAAACCTAGAAGCCAAGCCATCCATGCTTGGCCTCTGACCACCCTCCTGGGTGACCTGATTCAGCCCCAGAAATGTTCCCCTACCCAAAAACTGTAACACTCATTCCACATTTGGGGTCTGGGGTGTCAGAAAAGCTAAGTCCCATGTCAGCTGACATTGAGATTTCCGCAAAGCATTGCTGGAGAGTCAGGGCAAGACTTTACAAGGTTCTTACTAATCTTTTCTCTCACCTTAGCAGCATTCAGCAGGATGGGGGAGGGTGGGGGAATACAT
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Task1_train_9586
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Chromosome 5 houses a mutation in gene PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA5, PCDHGA6, PCDHGA4, PCDHGA7, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHG@, PCDHGA1, PCDHGA10, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4 (protocadherin gamma subfamily A, 11| protocadherin gamma subfamily A, 12| protocadherin gamma subfamily A, 2| protocadherin gamma subfamily A, 3| protocadherin gamma subfamily A, 5| protocadherin gamma subfamily A, 6| protocadherin gamma subfamily A, 4| protocadherin gamma subfamily A, 7| protocadherin gamma subfamily B, 5| protocadherin gamma subfamily B, 6| protocadherin gamma subfamily B, 7| protocadherin gamma subfamily C, 3| protocadherin gamma subfamily C, 4| protocadherin gamma cluster| protocadherin gamma subfamily A, 1| protocadherin gamma subfamily A, 10| protocadherin gamma subfamily A, 8| protocadherin gamma subfamily A, 9| protocadherin gamma subfamily B, 1| protocadherin gamma subfamily B, 2| protocadherin gamma subfamily B, 3| protocadherin gamma subfamily B, 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; not provided
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TCATTTAGAATACTGGTTGATGACAACACTGGCTTGAACAAAGTGACCACTCTCCAATGGCTACTCTCCCTCTCAGTGGGCCGCAGGTTGCTAGGGCTCAGGCTGTGGCTGTTTTCCCCGCCGAAAAGGGGCGGGGTCAGTCGGTGTGTTAGGAAAAAAAATGTATATATATATATATGTTGTCTGCCTCCCCACAGAGATAACAACCCGTGGAAAAACATGCCGTTGAGCGGGAGGAAGGCGAAAAGATAGGCTGGGTTTTTTGGGGGGTGGGGGAGCGTGGAGGATAGGGTGGGCTTTTTCCCCTCCAATGCTGCGACGCATTAACCCTGCTGCTGTTGGGACGTTCTCTGCTCAGCCTATTGGCTGAGCCCGGGAGCCGCTGTCTGCCAATCGGGTGGTGAAAGGCAGACAAATCTACCCCGCCACCAGCAAAAACGGCGCGTAACCCTTGCGGCGCCGGCCGAACCGCGCCAGAGCTGGCGCGGGGAAAGGGAGATAGGTGTCTCCAGCTGCTGTGGCTGTTTGGGGCGGGTCGGCTTCATCCGCGTCTCAGGAGCAAGTAGAGAATTAGCGGGCGGCAGCAATGCTCCGCAAGGTGAGAAGCTGGACAGAAATCTGGCGGTGGGCTACCCTTTTGTTCCTCTTTTACCACCTGGGTTACGTTTGTGGGCAGATCCGCTACCCGGTCCCAGAGGAGTCACAGGAAGGGACTTTTGTAGGGAATGTCGCTCAAGATTTCCTGCTGGATACGGACAGTCTGTCAGCTCGCAGGCTGCAGGTCGCTGGAGAGGTGAACCAAAGACACTTCCGTGTGGATTTGGACAGCGGAGCCCTGCTCATCAAGAACCCAATCGACCGAGAGGCACTGTGTGGGCTCAGTGCCAGCTGCATCGTGCCCCTGGAGTTTGTCACCGAAGGTCCTTTGGAAATGTACCGAGCAGAGGTAGAGATCGTAGATGTGAATGATCACGCCCCCCGTTTTCCGCGGCAGCAGCTGGACTTGGAAATTGGGGAGGCAGCTCCTCCAGGACAGCGTTTCCCGTTGGAAAAGGCTCAGGATGCAGATGTGGGGAGCAATTCGATTAGCAGCTATAGGCTGAGCTCCAATGAACACTTTGCACTGGATGTGAAGAAGCGCAGCGACGGCAGCCTGGTCCCAGAGCTGCTCCTGGAGAAGCCTTTGGATCGAGAGAAGCAATCGGACTACCGCCTGGTGCTGACTGCTGTCGATGGAGGGAACCCGCCGAGATCTGGCACCGCAGAGCTCCGGGTATCCGTGCTGGACGTAAACGACAACGCCCCAGCCTTCCAGCAATCCAGCTACAGGATTAGTGTGTTGGAGAGCGCACCAGCGGGCATGGTGCTCATCCAGCTCAATGCCTCAGACCCGGACCTGGGTCCCAGTGGTAACGTCACCTTTTATTTCAGTGGTCATACCCCTGATCGTGTAAGAAACCTCTTTAGCCTGCACCCCACTACTGGAAAGCTTACTCTTTTGGGGCCCCTAGACTTTGAGAGTGAGAATTACTATGAATTTGATGTGCGGGCTCGCGATGGGGGTTCTCCAGCCATGGAGCAACATTGCAGCCTTCGAGTGGATCTGCTGGACGTAAATGACAATGCCCCTTACATCACAGTGACCTCAGAGCTTGGAACCCTCCCCGAGAGTGCAGAACCTGGCACTGTGGTGGCACTTATCAGTGTGCAGGATCCAGACTCAGGGTCAAACGGAGATGTGAGCCTCCGCATTCCTGACCACTTGCCATTTGCCCTCAAGTCTGCCTTCAGGAACCAGTTCTCCCTGGTGACTGCTGGACCCTTGGATCGAGAGGCCAAATCTAGCTATGACATCATGGTCACTGCTTCTGATGCTGGGAACCCTCCTCTCAGTACCCACAGAACTATTTTCCTCAATATTTCAGATGTGAATGATAATCCACCCTCTTTCTTTCAGAGGTCACATGAGGTGTTTGTTCCTGAGAACAATCGCCCAGGGGACCTGCTTTGCTCCCTTGCAGCCTCTGACCCAGACTCTGGCTTGAATGCGCTTATCTCCTACTCACTCCTGGAGCCCAGGAATCGAGATGTATCAGCTTCCTCTTTCATCTCTCTGAACCCCCAGACAGGAGCTGTTCATGCTACTCGATCCTTTGACTATGAGCAAACCCAGACACTGCAGTTTGAGGTGCAGGCCCGGGATCGGGGCAACCCACCCCTTAGCAGCACTGTAACAGTTCGTCTATTTGTGCTGGACCTCAATGACAATGCTCCAGCTGTGCTCCGTCCTCGGGCCCGGCCTGGTTCCTTATGTCCCCAAGCACTGCCTCCATCAGTTGGTGCTGGCCACCTAATCACAAAGGTGACTGCTGTGGACTTGGATTCAGGTTACAATGCTTGGGTTTCCTATCAGCTCCTGGAGGCCCCAGATCCCAGCCTGTTTGCAGTCTCTCGATATGCTGGGGAGGTGCGGACGGCTGTTCCTATCCCAGCTGACCTCCCACCACAGAAGCTGGTCATTGTGGTAAAGGATAGTGGTAGTCCACCACTCTCTACCTCTGTTACTCTCTTAGTGTCCTTAGAGGAAGACACTCATCCAGTTGTCCCAGATCTTCGAGAATCTTCAGCTCCAAGGGAAGGAGAATCTCGTCTAACCCTCTACTTGGCTGTGTCCCTAGTGGCAATTTGCTTTGTCTCCTTTGGCTCATTCGTGGCACTACTCTCTAAGTGTCTTCGTGGGGCAGCCTGTGGAGTCACATGCTTTCCTGCTGGCACCTGTGCCTGTCTCACCAGATCTCGAAGGAGGGAGGGGCTTCCCCCTTCCAATGGGATCCTCCGAATCCAGCTAGGGTCAGATGACCCTATCAAGTTTGTTGATGTGGGAGGCCACTCTCATGGCTGTACACCCTTGGCTTCTGCACCCACTCGGAGTGATAGCTTCATGATGGTGAAGTCACCCAGTGCACCTATGGCAGGGGAGCCTGTTCGCCCAAGCTGCCCACCCTCTGATCTTCTCTATGGGCTAGAGGTGAGACCTTTGCAGGCTCAACAAATGCTTGAGGGTTATTCTGATCCAGGCATATGGCTAGGCCATGTCCTAGAGAGTACTGGCCTCTCAGTAAGTGCCCATAGTGATGTCACCATTTTTGTAAGAGGTAACTATGTGGTAGACGCTGTGCTTTGTAACTGTTTCGTGAATTAACCAGAGTTGTCACAGTTTAGCATTGGGGGCGGGTCATGCCTATATCTGAGTAAGAAATGAAAGTAATTGGTGATCAAGAGCCAGGCTGTTGTGGAAGCATGATGATGGAATGTGGGAGCACAGGAGGCTACAGTGCACAGGGTACAGTGCACCAGGCAGTCACTTGGACAAAGGTGGCTGTTTTCTCTACTCTTCCTGAAAGAGGGGATCAGATTCTGAAGTACCTTAACTCTAGGTTACCATTTCCCAAGGGATTGAGGGGAAATAAAATCTTTGTCTCCCAGTATCTAGTACACTGTGAAGGGACCTCTCTATTTGAAACATAGAGACAGCAGAAAGAGGAGAGAACTAAAGGAATAGAGAGGCACGCATCAGAGTGGTGGCATAGATCTTTTGGTCTGGGTCTTAGGACTCATATCAAGTCCCTACTGGGGATTTGAACTAGATGCGGTAAATTGGAAGGTTGGGGCGGGTTGGTCATCACCTTTGGAAAAAACAGTAAGTGAAATCACTTATGTCAGAAAACTGGTTTACAGTTGGCTGATTCATAGAAACAGCCACCCTGTGCATCTTTAAGTTGAGTTCTCCTGAATTTGGTGAAACCATGAAACCTAGAAGCCAAGCCATCCATGCTTGGCCTCTGACCACCCTCCTGGGTGACCTGATTCAGCCCCAGAAATGTTCCCCTACCCAAAAACTGTAACACTCATTCCACATTTGGGGTCTGGGGTGTCAGAAAAGCTAAGTCCCATGTCAGCTGACATTGAGATTTCCGCAAAGCATTGCTGGAGAGTCAGGGCAAGACTTTACAAGGTTCTTACTAATCTTTTCTCTCACCTTAGCAGCATTCAGCAGGATGGGGGAGGGTGGGGGAATACATGGGCTTTGCCTCTC
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TCATTTAGAATACTGGTTGATGACAACACTGGCTTGAACAAAGTGACCACTCTCCAATGGCTACTCTCCCTCTCAGTGGGCCGCAGGTTGCTAGGGCTCAGGCTGTGGCTGTTTTCCCCGCCGAAAAGGGGCGGGGTCAGTCGGTGTGTTAGGAAAAAAAATGTATATATATATATATGTTGTCTGCCTCCCCACAGAGATAACAACCCGTGGAAAAACATGCCGTTGAGCGGGAGGAAGGCGAAAAGATAGGCTGGGTTTTTTGGGGGGTGGGGGAGCGTGGAGGATAGGGTGGGCTTTTTCCCCTCCAATGCTGCGACGCATTAACCCTGCTGCTGTTGGGACGTTCTCTGCTCAGCCTATTGGCTGAGCCCGGGAGCCGCTGTCTGCCAATCGGGTGGTGAAAGGCAGACAAATCTACCCCGCCACCAGCAAAAACGGCGCGTAACCCTTGCGGCGCCGGCCGAACCGCGCCAGAGCTGGCGCGGGGAAAGGGAGATAGGTGTCTCCAGCTGCTGTGGCTGTTTGGGGCGGGTCGGCTTCATCCGCGTCTCAGGAGCAAGTAGAGAATTAGCGGGCGGCAGCAATGCTCCGCAAGGTGAGAAGCTGGACAGAAATCTGGCGGTGGGCTACCCTTTTGTTCCTCTTTTACCACCTGGGTTACGTTTGTGGGCAGATCCGCTACCCGGTCCCAGAGGAGTCACAGGAAGGGACTTTTGTAGGGAATGTCGCTCAAGATTTCCTGCTGGATACGGACAGTCTGTCAGCTCGCAGGCTGCAGGTCGCTGGAGAGGTGAACCAAAGACACTTCCGTGTGGATTTGGACAGCGGAGCCCTGCTCATCAAGAACCCAATCGACCGAGAGGCACTGTGTGGGCTCAGTGCCAGCTGCATCGTGCCCCTGGAGTTTGTCACCGAAGGTCCTTTGGAAATGTACCGAGCAGAGGTAGAGATCGTAGATGTGAATGATCACGCCCCCCGTTTTCCGCGGCAGCAGCTGGACTTGGAAATTGGGGAGGCAGCTCCTCCAGGACAGCGTTTCCCGTTGGAAAAGGCTCAGGATGCAGATGTGGGGAGCAATTCGATTAGCAGCTATAGGCTGAGCTCCAATGAACACTTTGCACTGGATGTGAAGAAGCGCAGCGACGGCAGCCTGGTCCCAGAGCTGCTCCTGGAGAAGCCTTTGGATCGAGAGAAGCAATCGGACTACCGCCTGGTGCTGACTGCTGTCGATGGAGGGAACCCGCCGAGATCTGGCACCGCAGAGCTCCGGGTATCCGTGCTGGACGTAAACGACAACGCCCCAGCCTTCCAGCAATCCAGCTACAGGATTAGTGTGTTGGAGAGCGCACCAGCGGGCATGGTGCTCATCCAGCTCAATGCCTCAGACCCGGACCTGGGTCCCAGTGGTAACGTCACCTTTTATTTCAGTGGTCATACCCCTGATCGTGTAAGAAACCTCTTTAGCCTGCACCCCACTACTGGAAAGCTTACTCTTTTGGGGCCCCTAGACTTTGAGAGTGAGAATTACTATGAATTTGATGTGCGGGCTCGCGATGGGGGTTCTCCAGCCATGGAGCAACATTGCAGCCTTCGAGTGGATCTGCTGGACGTAAATGACAATGCCCCTTACATCACAGTGACCTCAGAGCTTGGAACCCTCCCCGAGAGTGCAGAACCTGGCACTGTGGTGGCACTTATCAGTGTGCAGGATCCAGACTCAGGGTCAAACGGAGATGTGAGCCTCCGCATTCCTGACCACTTGCCATTTGCCCTCAAGTCTGCCTTCAGGAACCAGTTCTCCCTGGTGACTGCTGGACCCTTGGATCGAGAGGCCAAATCTAGCTATGACATCATGGTCACTGCTTCTGATGCTGGGAACCCTCCTCTCAGTACCCACAGAACTATTTTCCTCAATATTTCAGATGTGAATGATAATCCACCCTCTTTCTTTCAGAGGTCACATGAGGTGTTTGTTCCTGAGAACAATCGCCCAGGGGACCTGCTTTGCTCCCTTGCAGCCTCTGACCCAGACTCTGGCTTGAATGTGCTTATCTCCTACTCACTCCTGGAGCCCAGGAATCGAGATGTATCAGCTTCCTCTTTCATCTCTCTGAACCCCCAGACAGGAGCTGTTCATGCTACTCGATCCTTTGACTATGAGCAAACCCAGACACTGCAGTTTGAGGTGCAGGCCCGGGATCGGGGCAACCCACCCCTTAGCAGCACTGTAACAGTTCGTCTATTTGTGCTGGACCTCAATGACAATGCTCCAGCTGTGCTCCGTCCTCGGGCCCGGCCTGGTTCCTTATGTCCCCAAGCACTGCCTCCATCAGTTGGTGCTGGCCACCTAATCACAAAGGTGACTGCTGTGGACTTGGATTCAGGTTACAATGCTTGGGTTTCCTATCAGCTCCTGGAGGCCCCAGATCCCAGCCTGTTTGCAGTCTCTCGATATGCTGGGGAGGTGCGGACGGCTGTTCCTATCCCAGCTGACCTCCCACCACAGAAGCTGGTCATTGTGGTAAAGGATAGTGGTAGTCCACCACTCTCTACCTCTGTTACTCTCTTAGTGTCCTTAGAGGAAGACACTCATCCAGTTGTCCCAGATCTTCGAGAATCTTCAGCTCCAAGGGAAGGAGAATCTCGTCTAACCCTCTACTTGGCTGTGTCCCTAGTGGCAATTTGCTTTGTCTCCTTTGGCTCATTCGTGGCACTACTCTCTAAGTGTCTTCGTGGGGCAGCCTGTGGAGTCACATGCTTTCCTGCTGGCACCTGTGCCTGTCTCACCAGATCTCGAAGGAGGGAGGGGCTTCCCCCTTCCAATGGGATCCTCCGAATCCAGCTAGGGTCAGATGACCCTATCAAGTTTGTTGATGTGGGAGGCCACTCTCATGGCTGTACACCCTTGGCTTCTGCACCCACTCGGAGTGATAGCTTCATGATGGTGAAGTCACCCAGTGCACCTATGGCAGGGGAGCCTGTTCGCCCAAGCTGCCCACCCTCTGATCTTCTCTATGGGCTAGAGGTGAGACCTTTGCAGGCTCAACAAATGCTTGAGGGTTATTCTGATCCAGGCATATGGCTAGGCCATGTCCTAGAGAGTACTGGCCTCTCAGTAAGTGCCCATAGTGATGTCACCATTTTTGTAAGAGGTAACTATGTGGTAGACGCTGTGCTTTGTAACTGTTTCGTGAATTAACCAGAGTTGTCACAGTTTAGCATTGGGGGCGGGTCATGCCTATATCTGAGTAAGAAATGAAAGTAATTGGTGATCAAGAGCCAGGCTGTTGTGGAAGCATGATGATGGAATGTGGGAGCACAGGAGGCTACAGTGCACAGGGTACAGTGCACCAGGCAGTCACTTGGACAAAGGTGGCTGTTTTCTCTACTCTTCCTGAAAGAGGGGATCAGATTCTGAAGTACCTTAACTCTAGGTTACCATTTCCCAAGGGATTGAGGGGAAATAAAATCTTTGTCTCCCAGTATCTAGTACACTGTGAAGGGACCTCTCTATTTGAAACATAGAGACAGCAGAAAGAGGAGAGAACTAAAGGAATAGAGAGGCACGCATCAGAGTGGTGGCATAGATCTTTTGGTCTGGGTCTTAGGACTCATATCAAGTCCCTACTGGGGATTTGAACTAGATGCGGTAAATTGGAAGGTTGGGGCGGGTTGGTCATCACCTTTGGAAAAAACAGTAAGTGAAATCACTTATGTCAGAAAACTGGTTTACAGTTGGCTGATTCATAGAAACAGCCACCCTGTGCATCTTTAAGTTGAGTTCTCCTGAATTTGGTGAAACCATGAAACCTAGAAGCCAAGCCATCCATGCTTGGCCTCTGACCACCCTCCTGGGTGACCTGATTCAGCCCCAGAAATGTTCCCCTACCCAAAAACTGTAACACTCATTCCACATTTGGGGTCTGGGGTGTCAGAAAAGCTAAGTCCCATGTCAGCTGACATTGAGATTTCCGCAAAGCATTGCTGGAGAGTCAGGGCAAGACTTTACAAGGTTCTTACTAATCTTTTCTCTCACCTTAGCAGCATTCAGCAGGATGGGGGAGGGTGGGGGAATACATGGGCTTTGCCTCTC
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Task1_train_9587
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This alteration in SPRY4 (sprouty RTK signaling antagonist 4) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Hypogonadotropic hypogonadism 17 with or without anosmia
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ATACACAAAAGGCTATGACAGTGAGCAGCAGAATCAGAAGAGAAGAAACCCAAACCCAGCCTGGCTCAGCGGTCATTCTGCCAATGGGAGGTGCTGCCTCTCTTCTTTGCTGTTAAAATCCTCTTGTTGATAGGGAGGGAAATTGTGTTCCTTGAGGTTGCTCGCCCCCAGATTTTGAAATCAGCCCTTCCTGGGGGTGGCCAAAAGGAAACAAGTTGTTTTATTATTATTTTTTAAAACACCGTTAGCATCCGGTTTAATTATTCTATAAAAACATAATGACTGGATCCAGAGACCACAGCCTCAGACTCATTGGCAAAATGATATTTGGTCTCGCATTTGCCGCCCTGGCTTCCTCTACCCATATAAAGTTTCTGGAAGGGATCTGAGTAGAGAGAACCCAGGACACGTAGTGGGCAGGCGAGTCTGTGACTCAGTAAGAACCGAAGGACGGTGTGGTGAGCAGAACACCCCCGAGAGTTAGTTGATGCAGTTGGAAGGGAGAAGTGCACTGAGCAGTGGCTCCTAAATCCATCCTGTGGCTCCGGGGAGGCAGAAGGAGGAACGAGGCTTGGACTCACTGGCCGTCCTCTGTTCTCAGTGGCTCCCAAGTATATACAATAGGAACTGCTAGGGTGTTCTACACCTTCCCCAAGACATCAGGGACAAAGTGGGGTGGAGTGAGATGGGGAAGGAGAAGAAGGTATAGAAGACTCCAAGGGTCTTCTTTAAAGGTACCCTGGTACTCAGTTAACAATTCCTCCCAGGCAGCTAGCTCCTGTGAGAGCCAAAGACAATGGAAAAGAGGAAGGGGGGGGGGGCGGAGGGAGGGAGGGAGAAGGAGGGGCTGGGAAGGCATTCAAGCAGCTGCAGTTTCCGGATATGTGTCCACATCTGTGTTCTGTCTTCTGAAAAAGAAAAATTTCCCCCCAAACCACACCCTGCCCCTGCATTGTCTGTTTGACACAAAGTTTCAGGACCCTGAAAAAAAGCCCCAAAGTGCTTCTTCATCACCTTGGGGAATACAGGGTACGTGGTGGTGGTCTCTGTATTTTCCGAAGCTGGGGGTAGGGAGTGGGCAGACTAGCAAGGTCAGCCTCAGGAGGCTAAAACCTCTGACCTTGCTGCAGTCTTCTTAGATGTCAGAAGAGAACCAGGTTTCCAGGCAGAGCACTGGGGCTTCGACACAAACTGTCAGAAAGGCTTGTCGGGCCTGCTGGTCTTGGCATCCCCGCTGGCTGCTTTGCAGATGACGCTGTTCGTGTGCTTGCAGCGGCAACCAGGGCGGCGCAGACGGTCGTAGCCACGCTGGGCCAGCTTCACGCAGCCGGTGGCAGGCAGGTAGCAGAGCAGGCAGGGCAGCACCACGGAGAGAGCACCCATGAAGGACCAGCGGGCGCAGCAGTTGGAGCGGGAGCAGGAGCAGGGGTGGTCAGCGCAGGAGCCCTCATCGTCCTCATTCGTGCAGTGGTAGAAGATGCCCTGCACCAAACACATGCACGTGCCATAGTTGACCAGAGTCTGGGCTGAGCACAGGCACTCCTGGTTGCAGACCCAGCAGGAAGGCAACGTCCGGGGGGATGCACACTCCTTGCATTTACACTTCCCACAGGCCTCGCACAGCAAGAAGTGCTTGTCCAGCTCGGGTGGGACCGCCGGGCCCTTGAGGTCCAGCGGCTGGCAGTGGACCACCTTGGGCTGGATGCGCACAGCCCTTGGTGAGGCCTGGTCAGCCACGGGTGGTGGTGCCATGTGGTCTAAGAGCCGTTGGTCAGAGGATGTGCTGCTGCTGCTGCTCACAGAGCTGGGGCGCCCGCTGAAGGAGATCCAATGGTGGGTGACATCCTGGTCACAGCGGGCGGGCGTCGGGGCCAGCTCTGGGGCCCCGCCCCGGGTCCGCTTTGGGCCGGTGGTCAGGGCCAGGCTAGGGTTGTCTATGTAGTCATTCTCCACATGGCTGGTCTTCACCTGGTCAATGGGTAGGATGGTGAGTGGGTGCTGGAGCCGGCTGTGGGACATCCGGCTGTCAAGAAGGGGCTGGACCATGACTGAGTTGGGAGTCAAGGGGGCGCTCTGTGGGATCGGGGGCTCCATGGGGCTGGAGGTCCTGGACTGTACGGAGAAACAGGCTTCTAGGGGCCCTGGGGGTGGGGTGGGGAAAAGGAAGAGAGAATGGATTCCAGGCATCAGTATGTGGCCTGCCAATACCTCACCCCCCATCAGGTCCTTGGGAGCCGCCCAATTGACATAGGAACTAAAATCCCTCTGTGGACTTTCCAGTGACTCCCCAAGCTTAAGATGATTAATAATGACAAGAAGTCAGTGGTGGAAATAATACTACTGAGCACTTAAGATGGAGGTACTCTCCTAAGCACCATATGCATTAAGTCATTGACTTCATGATAAGCCTAAAACGTAACTACTATTATCCCCCTTTTCTATTTAGAGAAAAGACATGTTGAAATTAATTTGTCCAAAGTCACACAAAACTATCCAAAACTATCAGTAGCAGGACTCAAACCTGGGCAGCCTGAGTTCATTCTCTTAGTCACTGTGAAACATGCTCCTTATTTAAGACACATAGCTCAGTGGATGTAAACACAGGCTCTGGAACAACACTCAAATTTGACTCTCACTTTGGTCTAGCAATATTGCTATGAATGAGTTCTTTCATCTCTATGCCTTAGATTTTGGTTTTGTCATCTGTAAAATGGGCTCTTGCAAGGATTAAATGAGAAAATACTATCTATTACCTAGCATATTACCTGGCACGCAGCAACAATTTATCGCTACCCCAGGGAATAAGTTTAGATCTCCTGAGCACTTACAAGCACTGCCTGCCAAGCACTGTGCCAGGCACTGGGGACAATGTGGTGAACTCAACAGACAGCTCTGGGTGCTCCCATGGAGTTTATCAGCTGGATAAACAAGCCCTTTATTTCAGATATTCACAAGAGAAGGGCTGTATCTGATGCCTGCACATCCAGGATATTAACTTATTACTACCACTTCTTAAGAGCAGCAACCTGCAGTGGCTAATAATCCCTGGGTATGTGAGCTTCTGACAACTTGGATGGGAAATCCTCTCGAGGGGCACTCACATCACCCATTTCCAAGTGCTGAGCTGAACATTCAGCCTAAATGCTATTTACTAGAGTAGCTAAGCCAACCCTGGATCAGTTTCTAATTTCACCGAGAGAGTGCAATTTTAAGTTGGAATCCAGCCAGAGATTCAACTGCAGTGCCTGACACGGAACCCCAGGAAGTCACTTAAATCAAAGAGCGGAAACTGCTTGGTTCAAATTTAGAAAGTGCACATTGTTTTCTATTAGAAGTGCCATTTCCTTGCCTGCTGACCTTTACATTTGGAATTCTGCTGGAGATCAATTTAAAGAAATAGCAGCAGAAGGCCAAGACCTCTGCTCAAGGGGATACAATTTGGAATCCAAGGGAAAGATTACACTCTGGGAAGATTCCACCCCAATCTTAAGAACCCCAGGGAATGGGGAGGGAGGGTAAAAGAGAAAGATAAGTCTTTAAAACAAAACCAAAAAAAGGCCATTGCATTAATGTATTATGGGGTGGGGTTTTAGTAAATGCTTTTGCATTTACTAAATTTGCATCAAGATGCTAACGATGTTCTAATTAGGAGAGCTGATCCTGCCCCTCTGCTGTTAGGTTTATCTAGAACCTGTCTAAAATAAAAAGCTAGCTCTAGATAAAAGTTTATGAAGGGGATAAAAAGGGGGCTATCCACGGGGCTCCAGTATGTATATCACTTACACTGCTAAATCCAAAAAGCATCCAGTCTTTTCTGCGAGGTTCAATGCTCAGTCAACTGATATTTCCCATTCACGCAGGGCATCAACTATTGGCTTTGCTCCCATGGCCCTGCCTACTTAAAAGGATGCTGGTATTTCTTTACACGCCTTGTTTTTCCTGTCTTGGAGAAAGCCTACCTAGTGGCAGTGCCTGCCCCCATGTTCTCTTCGGATGAAACCATAGCATCACCTTTGAATTGGCGATTTCCTTGTGGCAGAGTTTACCTTAAGTGTCTGGCAGGTCTGCCACCAAAGAGTAGCCACTTGCCAAAGCA
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ATACACAAAAGGCTATGACAGTGAGCAGCAGAATCAGAAGAGAAGAAACCCAAACCCAGCCTGGCTCAGCGGTCATTCTGCCAATGGGAGGTGCTGCCTCTCTTCTTTGCTGTTAAAATCCTCTTGTTGATAGGGAGGGAAATTGTGTTCCTTGAGGTTGCTCGCCCCCAGATTTTGAAATCAGCCCTTCCTGGGGGTGGCCAAAAGGAAACAAGTTGTTTTATTATTATTTTTTAAAACACCGTTAGCATCCGGTTTAATTATTCTATAAAAACATAATGACTGGATCCAGAGACCACAGCCTCAGACTCATTGGCAAAATGATATTTGGTCTCGCATTTGCCGCCCTGGCTTCCTCTACCCATATAAAGTTTCTGGAAGGGATCTGAGTAGAGAGAACCCAGGACACGTAGTGGGCAGGCGAGTCTGTGACTCAGTAAGAACCGAAGGACGGTGTGGTGAGCAGAACACCCCCGAGAGTTAGTTGATGCAGTTGGAAGGGAGAAGTGCACTGAGCAGTGGCTCCTAAATCCATCCTGTGGCTCCGGGGAGGCAGAAGGAGGAACGAGGCTTGGACTCACTGGCCGTCCTCTGTTCTCAGTGGCTCCCAAGTATATACAATAGGAACTGCTAGGGTGTTCTACACCTTCCCCAAGACATCAGGGACAAAGTGGGGTGGAGTGAGATGGGGAAGGAGAAGAAGGTATAGAAGACTCCAAGGGTCTTCTTTAAAGGTACCCTGGTACTCAGTTAACAATTCCTCCCAGGCAGCTAGCTCCTGTGAGAGCCAAAGACAATGGAAAAGAGGAAGGGGGGGGGGGCGGAGGGAGGGAGGGAGAAGGAGGGGCTGGGAAGGCATTCAAGCAGCTGCAGTTTCCGGATATGTGTCCACATCTGTGTTCTGTCTTCTGAAAAAGAAAAATTTCCCCCCAAACCACACCCTGCCCCTGCATTGTCTGTTTGACACAAAGTTTCAGGACCCTGAAAAAAAGCCCCAAAGTGCTTCTTCATCACCTTGGGGAATACAGGGTACGTGGTGGTGGTCTCTGTATTTTCCGAAGCTGGGGGTAGGGAGTGGGCAGACTAGCAAGGTCAGCCTCAGGAGGCTAAAACCTCTGACCTTGCTGCAGTCTTCTTAGATGTCAGAAGAGAACCAGGTTTCCAGGCAGAGCACTGGGGCTTCGACACAAACTGTCAGAAAGGCTTGTCGGGCCTGCTGGTCTTGGCATCCCCGCTGGCTGCTTTGCAGATGACGCTGTTCGTGTGCTTGCAGCGGCAACCAGGGCGGCGCAGACGGTCGTAGCCACGCTGGGCCAGCTTCACGCAGCCGGTGGCAGGCAGGTAGCAGAGCAGGCAGGGCAGCACCACGGAGAGAGCACCCATGAAGGACCAGCGGGCGCAGCAGTTGGAGCGGGAGCAGGAGCAGGGGTGGTCAGCGCAGGAGCCCTCATCGTCCTCATTCGTGCAGTGGTAGAAGATGCCCTGCACCAAACACATGCACGTGCCATAGTTGACCAGAGTCTGGGCTGAGCACAGGCACTCCTGGTTGCAGACCCAGCAGGAAGGCAACGTCCGGGGGGATGCACACTCCTTGCATTTACACTTCCCACAGGCCTCGCACAGCAAGAAGTGCTTGTCCAGCTCGGGTGGGACCGCCGGGCCCTTGAGGTCCAGCGGCTGGCAGTGGACCACCTTGGGCTGGATGCGCACAGCCCTTGGTGAGGCCTGGTCAGCCACGGGTGGTGGTGCCATGTGGTCTAAGAGCCGTTGGTCAGAGGATGTGCTGCTGCTGCTGCTCACAGAGCTGGGGCGCCCGCTGAAGGAGATCCAATGGTGGGTGACATCCTGGTCACAGCGGGCGGGCGTCGGGGCCAGCTCTGGGGCCCCGCCCCGGGTCCGCTTTGGGCCGGTGGTCAGGGCCAGGCTAGGGTTGTCTATGTAGTCATTCTCCACATGGCTGGTCTTCACCTGGTCAATGGGTAGGATGGTGAGTGGGTGCTGGAGCCGGCTGTGGGACATCCGGCTGTCAAGAAGGGGCTGGACCATGATTGAGTTGGGAGTCAAGGGGGCGCTCTGTGGGATCGGGGGCTCCATGGGGCTGGAGGTCCTGGACTGTACGGAGAAACAGGCTTCTAGGGGCCCTGGGGGTGGGGTGGGGAAAAGGAAGAGAGAATGGATTCCAGGCATCAGTATGTGGCCTGCCAATACCTCACCCCCCATCAGGTCCTTGGGAGCCGCCCAATTGACATAGGAACTAAAATCCCTCTGTGGACTTTCCAGTGACTCCCCAAGCTTAAGATGATTAATAATGACAAGAAGTCAGTGGTGGAAATAATACTACTGAGCACTTAAGATGGAGGTACTCTCCTAAGCACCATATGCATTAAGTCATTGACTTCATGATAAGCCTAAAACGTAACTACTATTATCCCCCTTTTCTATTTAGAGAAAAGACATGTTGAAATTAATTTGTCCAAAGTCACACAAAACTATCCAAAACTATCAGTAGCAGGACTCAAACCTGGGCAGCCTGAGTTCATTCTCTTAGTCACTGTGAAACATGCTCCTTATTTAAGACACATAGCTCAGTGGATGTAAACACAGGCTCTGGAACAACACTCAAATTTGACTCTCACTTTGGTCTAGCAATATTGCTATGAATGAGTTCTTTCATCTCTATGCCTTAGATTTTGGTTTTGTCATCTGTAAAATGGGCTCTTGCAAGGATTAAATGAGAAAATACTATCTATTACCTAGCATATTACCTGGCACGCAGCAACAATTTATCGCTACCCCAGGGAATAAGTTTAGATCTCCTGAGCACTTACAAGCACTGCCTGCCAAGCACTGTGCCAGGCACTGGGGACAATGTGGTGAACTCAACAGACAGCTCTGGGTGCTCCCATGGAGTTTATCAGCTGGATAAACAAGCCCTTTATTTCAGATATTCACAAGAGAAGGGCTGTATCTGATGCCTGCACATCCAGGATATTAACTTATTACTACCACTTCTTAAGAGCAGCAACCTGCAGTGGCTAATAATCCCTGGGTATGTGAGCTTCTGACAACTTGGATGGGAAATCCTCTCGAGGGGCACTCACATCACCCATTTCCAAGTGCTGAGCTGAACATTCAGCCTAAATGCTATTTACTAGAGTAGCTAAGCCAACCCTGGATCAGTTTCTAATTTCACCGAGAGAGTGCAATTTTAAGTTGGAATCCAGCCAGAGATTCAACTGCAGTGCCTGACACGGAACCCCAGGAAGTCACTTAAATCAAAGAGCGGAAACTGCTTGGTTCAAATTTAGAAAGTGCACATTGTTTTCTATTAGAAGTGCCATTTCCTTGCCTGCTGACCTTTACATTTGGAATTCTGCTGGAGATCAATTTAAAGAAATAGCAGCAGAAGGCCAAGACCTCTGCTCAAGGGGATACAATTTGGAATCCAAGGGAAAGATTACACTCTGGGAAGATTCCACCCCAATCTTAAGAACCCCAGGGAATGGGGAGGGAGGGTAAAAGAGAAAGATAAGTCTTTAAAACAAAACCAAAAAAAGGCCATTGCATTAATGTATTATGGGGTGGGGTTTTAGTAAATGCTTTTGCATTTACTAAATTTGCATCAAGATGCTAACGATGTTCTAATTAGGAGAGCTGATCCTGCCCCTCTGCTGTTAGGTTTATCTAGAACCTGTCTAAAATAAAAAGCTAGCTCTAGATAAAAGTTTATGAAGGGGATAAAAAGGGGGCTATCCACGGGGCTCCAGTATGTATATCACTTACACTGCTAAATCCAAAAAGCATCCAGTCTTTTCTGCGAGGTTCAATGCTCAGTCAACTGATATTTCCCATTCACGCAGGGCATCAACTATTGGCTTTGCTCCCATGGCCCTGCCTACTTAAAAGGATGCTGGTATTTCTTTACACGCCTTGTTTTTCCTGTCTTGGAGAAAGCCTACCTAGTGGCAGTGCCTGCCCCCATGTTCTCTTCGGATGAAACCATAGCATCACCTTTGAATTGGCGATTTCCTTGTGGCAGAGTTTACCTTAAGTGTCTGGCAGGTCTGCCACCAAAGAGTAGCCACTTGCCAAAGCA
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Task1_train_9588
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A variant was discovered in gene ARHGAP26 (Rho GTPase activating protein 26), Chromosome 5. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Juvenile myelomonocytic leukemia
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ATAAATACAATAAGTAGGAGAAGAAGAGGTGTACAAGTTCCTCTTCCCCCTCTAAAATGAAAATGGAAATGATGTATTTTAACTTCTACGAAAGTCTTCATTGAGCACAAAGAAGAAATAAGGACAGTATGAGTTAGGTGCCATTTTAGCGTAAATAGTTGAAAAAAGTGGGTATCTCCCGATTGCAGTGTGTGTATGTGCATACGTATTTATGGTGATCAGAGATGAACAGACTTCCCATACTCTCTGGGATTTGACAATTGTCCAGTGGGAGGTGGGATTGTGTAAAGTCCCGGGAAAGCACAAGGATAGAAGAAGTAGAGACACTTAAGACTTTTCAAGCCCACAAGCTGACATGTTACTGAATCAAGTTTCTGCCACTGAGTAACTTGGGACCCATCACTTAGTTTTTGAAGTTTTTGACCAGGGACTCCTAGTCCGTGAATCATGCAGAATGATGTACATGATTTTACAGGTCCTTTTTAGCTGTAAAATTCTATCATTCCAGACCACTTCTTTTTATTCATTAGTTCCATGTCTACATAGGTCTTGTTGAAAGTACTGCAGAATTGGTCCTTTCCTGAGTTTCTTTTGGAAGATTGTGTTTTGGCCCCCAAGTATTTTATACTGGCCTTGATGGAGTATAATCTCGTGTTTTGTTTATTATCATGTACCATATACTGATCCAGGGACTGAGGATGTAATGGTGAACAGGACACAATTACTGTTTACATTCTATTGAGAATGTAACAGAAAAAACAAGTAAATAATCAAATAACAAACATAATTTCAGATATTGTTAACTGCTATAAAGAAAGAAAACAGGGTAAGGGAATGACCAGTAATGTTGATTGTGGATTGCATTAGATTGAAGCGGTTGCATTTAAGCTGAGATCTGAATGATGAAAAGCTCTGGGAGAAGAGCAGTCCAGGTAGAGGAAACAGCTGGAGCAAAGGCTATGAGGTGGGGCCATGAGCTTGGCATGTTGAGGTGACAGGAAGGCCAGTGTGTGGAGCAGAATGCATGTGGTCAATGATGCAATCAGAGGTAGTCAGTGCTCGATAGTATAGGCCTTATAGGCCATTGTAAGTAGTTTTGATTATGGTCTAAGTGCAATGGGAAGCTATTGGAGGGTTTTAAGAGAAGAGGTGATATGAACTAATTTGCACTTTAGACAGTTCACTTTGGCTACTGGTTGAAGAATGGACATCAGAGGAATAAAATAGGAAGCTGGAGCTCTATTACTTGAGAGGGGTCAGATATGATGGGCCTGGAACTAATAGGAGAAAAATCATTTCAAGTCACCTGGTCTAAATTGCCTTCTTTTGTAAATGGTACAGTGGTGATCTAATCCATGTATTTAAATGAACAGAAACACTGCAGTGGATTAGTTTTTGATTTTTTGTTTAGATGTTTAATTTAAAAGTAAACCCTTACTAGTCTAATTGTACAGTTCCTTGGGTTGAAATAAAGGTGGTCTTTTTTGATAAAGAATATTTGTATTATAAATGAATGGATCTTCTAATTTCTCAGTCTTGGCTAACATTCCTTAAAATTAAAAACATTCTTACACCTCCGTATTTTCATTTTTTGTGTAAAAATAGATTATAAAGTGTCTTTTTCTGTTGTATGAATTTTTAATGTCATTTTTGGCATTTTAATTTTAAAAATTGGTTAAATATGACATATTTAAAAGTGTACATTTTGCATCTTTTAGAACTCTTCAGATGCTGCCTTTGGCAAGAGAAAGGAAAGCTTCTTTCGCCGCTGATGACTGAACTAACATGAGGGCTGAAGTGTGCAGCACATCCGTGAAATCCTAGACAGCTGTACCAAATCCCACTCGTTTGCTAAGAGCTGAGCTGAGTGACAGGGGACTTTAATTAGAGCAGCTTTTAGGAGGACTGAGAAAATGAAAAAAAAAAAAAAAAAAAGTGCATTTGGCTGGATTGGCCTGACTTGTGTTCTGACGTGCCTCTAATTAAATCATCACTGTTTCTTTCCTCAGGGATCAACGAGCAAGGGCTGTATCGAATTGTGGGTGTCAACTCCAGAGTGCAGAAGTTGCTGAGTGTCCTGATGGGTGAGTGCCGCAGTGGCTCTGCTAGGCAGGTCCCTGGATGGGGGGCCCACTCTGAAAAGTCACCAGGTCTGTGAGTAGATACAGCCTGTGGCAAAGGAATCGGGGTGTCCGTGAGCTGTCACCTAGAAGTCATCTGCCCCATCGGTCAGTTGTCATGGCTTCAGACACTGCTGGGAAAGGTTCTGAGTAGGACTGGACAAAATAAAAAATGCCAGGGCCCAGACACCACACCCTCTCTGTCTGTAGGCTCAGTGCTCTGGTCCAAGTGGCACTCAGTCACTCATGTGACCACCACACCCTACTCTGTCTTTAATAGCTTATGACTCCCTCCGTTCTCTTTTGGGACAGGTATTTAGTGGGACACACCCAATGCCCAAGGAAAGGCATCATTCTGGGCTCCAGAGGACCTCAGAGTTCATGTTCCTGATACTGAGCAGGTGTCATGTAACTCTCAGATAAAATATATATAACCAGAGAAATCTTCTGATCCTCTTTGCTTCTAGATTTCAACCGAATACCTGTCACTTGAGCAGCAGAACCTCCTTTGCCACTGGCTGATATAAATACAAAGCAGTGTCTCCAAATGTGCAGTATTTGAATCAAAAGCCCATGAGTCCATGAGCCAAATTTGCTTAGGCTGCAGATTTCCTGTATTTTTAGATATGAGTGCAGCCAGCCTCCATGAATCACATGGACCTAAATGGCAAACAGATCAGGTTTCACAGAGGCTGTTATTCCTCCCCATGGAAGCCCTGGCTTGTAGAGAGGGACTATCACTTGGGGTACGCAGCTCAGTGTTTTGGACAGGGACAGTTCTTGTGTTAGTATTTGTAATTTCTTTTGCCATCCCACTTTCTGAAAATAGCTTTCTTGTGTAAAGAAATCTCTTCTCTCATGTTGGCCAGAATGACTGTCTTCACCTCTTTTTGAGAGAGTCATTCACTTCTTGTAGCCAAAACCCTATTGTATTGCTAGTTAGAGTGAGATCTGTTGTTTAAAACTATGATTATTTGCGAGGTACTCTAGCAACGAGTATCTGGGTTTTTTTTGGTTAAGATTTGAAATATGGTTAGTTTTTGTAAAAATTAAACTTTTCATTTTGAGATAATTGTAGATTTACATTCGGTTGTAAGAAATAATATAGAGATCCTGTGTACCACTTACTCAGTCTCCTCTAAAGGTAACATCTTGCAAAACACAATTTTAATATCACAACCAAAATATTGGCATTAATTTAGTCAAGATGCAGAACACTTCCATCACTAAAAGGATTCCTTGTGATGTTGTACAAGCACATACCTCACTTCCCACCTTGCACCCTGTGCCTAACCCCTGGCGATCAGCAATCTGTTCTCTATTTCTATAATTTTGTCATTTCAAGATTATTATTTAAATGGAATTATACAATACAGAACCTTTTGGGATTGGCATTGTTTTTCAATCAGTGTAATTTTCTCAAGATTTATTTTTGCTGTTCCATGTATTAATAGTTCTTTTTTATTGCTGAGTAATATTCCATTGTATGGATGTACTGCACTTTGTCGAACCATTCATTTATTGAAGGGCACCTGAGTTGTTTCCAGTTTGGGGCAATTATGATAAAGCTTCTATAAATTTTCATATATAGTTTCTGTGTGAGCATATATTTGTTCCTCTGGGATAAATGTCCGAGTGTGCAAATTGCTGGGTTGTATGGCGATAGGGTCAATTTTTGAGAATTTCTAATATAAGGAAGAATTAAGAGTCTAATAGGTGTCAATCCTTAGTTTTTCATTTCTGACCAGAGCTGCAAACATTTGTGGGGTGTCTGCTGCTTAGAACAGATGTCAGGTGCTAGAGATTAAATTTTAGAAAGAGCTGTTCCTTTTCTGTAAGGAGTCCTGATAGGGTGAAATATGTGTGTATATGAAAGCTGTAATGTAAAGTATGATATTCATGCTTAATCTGTGCTGGGTCTAGAAGATTGAGTAGTGTAGTGAAGGAGAGAGTAGAAGAATAATTCCAATTCATGA
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ATAAATACAATAAGTAGGAGAAGAAGAGGTGTACAAGTTCCTCTTCCCCCTCTAAAATGAAAATGGAAATGATGTATTTTAACTTCTACGAAAGTCTTCATTGAGCACAAAGAAGAAATAAGGACAGTATGAGTTAGGTGCCATTTTAGCGTAAATAGTTGAAAAAAGTGGGTATCTCCCGATTGCAGTGTGTGTATGTGCATACGTATTTATGGTGATCAGAGATGAACAGACTTCCCATACTCTCTGGGATTTGACAATTGTCCAGTGGGAGGTGGGATTGTGTAAAGTCCCGGGAAAGCACAAGGATAGAAGAAGTAGAGACACTTAAGACTTTTCAAGCCCACAAGCTGACATGTTACTGAATCAAGTTTCTGCCACTGAGTAACTTGGGACCCATCACTTAGTTTTTGAAGTTTTTGACCAGGGACTCCTAGTCCGTGAATCATGCAGAATGATGTACATGATTTTACAGGTCCTTTTTAGCTGTAAAATTCTATCATTCCAGACCACTTCTTTTTATTCATTAGTTCCATGTCTACATAGGTCTTGTTGAAAGTACTGCAGAATTGGTCCTTTCCTGAGTTTCTTTTGGAAGATTGTGTTTTGGCCCCCAAGTATTTTATACTGGCCTTGATGGAGTATAATCTCGTGTTTTGTTTATTATCATGTACCATATACTGATCCAGGGACTGAGGATGTAATGGTGAACAGGACACAATTACTGTTTACATTCTATTGAGAATGTAACAGAAAAAACAAGTAAATAATCAAATAACAAACATAATTTCAGATATTGTTAACTGCTATAAAGAAAGAAAACAGGGTAAGGGAATGACCAGTAATGTTGATTGTGGATTGCATTAGATTGAAGCGGTTGCATTTAAGCTGAGATCTGAATGATGAAAAGCTCTGGGAGAAGAGCAGTCCAGGTAGAGGAAACAGCTGGAGCAAAGGCTATGAGGTGGGGCCATGAGCTTGGCATGTTGAGGTGACAGGAAGGCCAGTGTGTGGAGCAGAATGCATGTGGTCAATGATGCAATCAGAGGTAGTCAGTGCTCGATAGTATAGGCCTTATAGGCCATTGTAAGTAGTTTTGATTATGGTCTAAGTGCAATGGGAAGCTATTGGAGGGTTTTAAGAGAAGAGGTGATATGAACTAATTTGCACTTTAGACAGTTCACTTTGGCTACTGGTTGAAGAATGGACATCAGAGGAATAAAATAGGAAGCTGGAGCTCTATTACTTGAGAGGGGTCAGATATGATGGGCCTGGAACTAATAGGAGAAAAATCATTTCAAGTCACCTGGTCTAAATTGCCTTCTTTTGTAAATGGTACAGTGGTGATCTAATCCATGTATTTAAATGAACAGAAACACTGCAGTGGATTAGTTTTTGATTTTTTGTTTAGATGTTTAATTTAAAAGTAAACCCTTACTAGTCTAATTGTACAGTTCCTTGGGTTGAAATAAAGGTGGTCTTTTTTGATAAAGAATATTTGTATTATAAATGAATGGATCTTCTAATTTCTCAGTCTTGGCTAACATTCCTTAAAATTAAAAACATTCTTACACCTCCGTATTTTCATTTTTTGTGTAAAAATAGATTATAAAGTGTCTTTTTCTGTTGTATGAATTTTTAATGTCATTTTTGGCATTTTAATTTTAAAAATTGGTTAAATATGACATATTTAAAAGTGTACATTTTGCATCTTTTAGAACTCTTCAGATGCTGCCTTTGGCAAGAGAAAGGAAAGCTTCTTTCGCCGCTGATGACTGAACTAACATGAGGGCTGAAGTGTGCAGCACATCCGTGAAATCCTAGACAGCTGTACCAAATCCCACTCGTTTGCTAAGAGCTGAGCTGAGTGACAGGGGACTTTAATTAGAGCAGCTTTTAGGAGGACTGAGAAAATGAAAAAAAAAAAAAAAAAAAGTGCATTTGGCTGGATTGGCCTGACTTGTGTTCTGACGTGCCTCTAATTAAATCATCACTGTTTCTTTCCTCAGGGATCAACGAGCAAGGGCTGTATCGAATTGTGGGTGTCAGCTCCAGAGTGCAGAAGTTGCTGAGTGTCCTGATGGGTGAGTGCCGCAGTGGCTCTGCTAGGCAGGTCCCTGGATGGGGGGCCCACTCTGAAAAGTCACCAGGTCTGTGAGTAGATACAGCCTGTGGCAAAGGAATCGGGGTGTCCGTGAGCTGTCACCTAGAAGTCATCTGCCCCATCGGTCAGTTGTCATGGCTTCAGACACTGCTGGGAAAGGTTCTGAGTAGGACTGGACAAAATAAAAAATGCCAGGGCCCAGACACCACACCCTCTCTGTCTGTAGGCTCAGTGCTCTGGTCCAAGTGGCACTCAGTCACTCATGTGACCACCACACCCTACTCTGTCTTTAATAGCTTATGACTCCCTCCGTTCTCTTTTGGGACAGGTATTTAGTGGGACACACCCAATGCCCAAGGAAAGGCATCATTCTGGGCTCCAGAGGACCTCAGAGTTCATGTTCCTGATACTGAGCAGGTGTCATGTAACTCTCAGATAAAATATATATAACCAGAGAAATCTTCTGATCCTCTTTGCTTCTAGATTTCAACCGAATACCTGTCACTTGAGCAGCAGAACCTCCTTTGCCACTGGCTGATATAAATACAAAGCAGTGTCTCCAAATGTGCAGTATTTGAATCAAAAGCCCATGAGTCCATGAGCCAAATTTGCTTAGGCTGCAGATTTCCTGTATTTTTAGATATGAGTGCAGCCAGCCTCCATGAATCACATGGACCTAAATGGCAAACAGATCAGGTTTCACAGAGGCTGTTATTCCTCCCCATGGAAGCCCTGGCTTGTAGAGAGGGACTATCACTTGGGGTACGCAGCTCAGTGTTTTGGACAGGGACAGTTCTTGTGTTAGTATTTGTAATTTCTTTTGCCATCCCACTTTCTGAAAATAGCTTTCTTGTGTAAAGAAATCTCTTCTCTCATGTTGGCCAGAATGACTGTCTTCACCTCTTTTTGAGAGAGTCATTCACTTCTTGTAGCCAAAACCCTATTGTATTGCTAGTTAGAGTGAGATCTGTTGTTTAAAACTATGATTATTTGCGAGGTACTCTAGCAACGAGTATCTGGGTTTTTTTTGGTTAAGATTTGAAATATGGTTAGTTTTTGTAAAAATTAAACTTTTCATTTTGAGATAATTGTAGATTTACATTCGGTTGTAAGAAATAATATAGAGATCCTGTGTACCACTTACTCAGTCTCCTCTAAAGGTAACATCTTGCAAAACACAATTTTAATATCACAACCAAAATATTGGCATTAATTTAGTCAAGATGCAGAACACTTCCATCACTAAAAGGATTCCTTGTGATGTTGTACAAGCACATACCTCACTTCCCACCTTGCACCCTGTGCCTAACCCCTGGCGATCAGCAATCTGTTCTCTATTTCTATAATTTTGTCATTTCAAGATTATTATTTAAATGGAATTATACAATACAGAACCTTTTGGGATTGGCATTGTTTTTCAATCAGTGTAATTTTCTCAAGATTTATTTTTGCTGTTCCATGTATTAATAGTTCTTTTTTATTGCTGAGTAATATTCCATTGTATGGATGTACTGCACTTTGTCGAACCATTCATTTATTGAAGGGCACCTGAGTTGTTTCCAGTTTGGGGCAATTATGATAAAGCTTCTATAAATTTTCATATATAGTTTCTGTGTGAGCATATATTTGTTCCTCTGGGATAAATGTCCGAGTGTGCAAATTGCTGGGTTGTATGGCGATAGGGTCAATTTTTGAGAATTTCTAATATAAGGAAGAATTAAGAGTCTAATAGGTGTCAATCCTTAGTTTTTCATTTCTGACCAGAGCTGCAAACATTTGTGGGGTGTCTGCTGCTTAGAACAGATGTCAGGTGCTAGAGATTAAATTTTAGAAAGAGCTGTTCCTTTTCTGTAAGGAGTCCTGATAGGGTGAAATATGTGTGTATATGAAAGCTGTAATGTAAAGTATGATATTCATGCTTAATCTGTGCTGGGTCTAGAAGATTGAGTAGTGTAGTGAAGGAGAGAGTAGAAGAATAATTCCAATTCATGA
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Task1_train_9589
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Here is a genetic alteration in NR3C1 (nuclear receptor subfamily 3 group C member 1) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Glucocorticoid resistance
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GGTGCCTTTAAGGATGTAAGCACCACCTTCCTGTCTCCTGTTTACATACTTTACATACTTTAGTGCAAGGGGAGATTGAGTAAACTAAACCTGCGCTGACAGACTCACTGTTGGAATGAGAAGGGTGGTCAGAATGGGAGGCAGAGGATAACTTCCTCTGTAATCTCACTGGGTCAGAGCCTCAGCAACCTTCACTGCACACAGGACCAGTCTCCATCTCCCTCTTCCCCTAGAGCAAACTGTTTGGTTTCTGAGACCATCGCTGCCTGTATGAATGCATGTACAAACTATAAATCATATAGGTTATCCATCAGCATTTCTTTGACCCCTACAAAAAATATATAACATGTCATGATAAAACAATCTCATCTAAAAATCATTCTTATTTTACACTATACAAGCTATTTTACAATCATTTTAATAAATTGCATGTAAAGCTGCAGTAGCCCTTCCCTTCCCAGATTAGTGAATACCAATATGATATATATCTGAAACTATAACTAAATATAAAAATATATTAGAAGTTCCATATTTTTAATATTAGATTTTCAGTTTTCTATTACACAAATAATTTGGCCACCTTGAATAGAAATCAAATTTCTTGTGGCTTAGTAAATATGTTAAGTTTTGAGTTTACAGAAAGTTGGTAAGGTGCACACAGAAAGGGCTACTACAGCTTCTATTTTGTTTAAAATAATTTTCAACAGTGAAGAAATTCACAGGACTTGTGTTAAACTCTATGGCACACATTAGGGATGTGTAGTTTTACAAACATGGATGTCTGACATACAGTTCTAAATCACAAAAATCAGTAGCTGAGCTTTCCTGTACCATCAGGAAAGATTAACCAATTGGTGACAGATGGGAATGTGAAAATGGGTGTCTAGCCATTTTTGCCATATTAGAGATTTAGTTTTTGGGTAAAGTTTAGTGAGAGGAATTACTTTGTCTGATTAAAAGTCTCTCAGCTGTGTTACAGCTGGTTATCTGGAATCACAACTTTTAAGAAGTTATACAAACTACTTCAAAAGGTCCTGAAAGACAAATAGTTTACCAGCTTTCTTGCCATATAGCCATTGCAAAAATAGGGCGTTAGGTACAGACAGGGCCTCTTGGTAGTTATTTTTTAAATTAGTCTTTTGCAACCATCATCCACAGTTTACCCAGCAGGTCACTGGACTAGGTGCTCTATACCAGTTAGGACTGTTAATTTGCACAACCTATATAATTCTCCACTGAAGCAGATATATACAAAATATGAGCTTTTTTTTTTTTTTTTTTGACAAGAATACTGGAGATTTGAGTCAATTTTTGTGGTCTTCTGATAGCTAAGTGCCATCAGGTTAGAAGCACCAACCCATTTTCACACAGATGATTGATTAATGTTTAGAGTTTATTTGGGAAAGCTACGAACTAGCTGCCCATCTTAAACAGCTGTACAATAACTTGAATAAAAAATTATGTAAGAAAAAATGAGCAAGCGTAGTTCACTAAATATAAAGGAAATTGTTAAAACCAGACAGTAATAGCTATAAAAGGCACAACTTCCCTTTTCTGATATACACTTGTAAACTTTTTTTCAGGTTTCCATGCATAAATCAAAAATGCTATCCTAACTATACAGGGGGGGGATACACCAACAGAAAGTCTAGAAAATTTCATCCAGCCAACTGTGAAAAAAAGTATGAAGAGAAAGTTCATCACACAGACTTTGGGCACTGGTGGTTTAGGTGCCATCCTTCTTTGACTGTGGAGATTACGTCCACATATTAAGGTTTCTAATTTCTGGGATATATTAACTAATAAATTTCACCATCTACTCTCCCATCACTGAAAAGTGATGACGACTCAACTGCTTCTGTTGCCAAGTCTTGGCCCTCTATAAACCACATGTAGTGCGTATTTAAAACAAAACAACAGATGAAAACAATAAAAAATAAAACAACAAAACCTCTACAGGACAAACTGATAGTTTATACAATAAAAGCTATTAATTCGACTTTCTTTAAGGCAACCATTCTTATTAAGGCAGTCACTTTTGATGAAACAGAAGTTTTTTGATATTTCCATTTGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAACATCTCGGGGAATTCAATACTCATGGTCTTATCCAAAAATGTTTGGAAGCAATAGTTAAGGAGATTTTCAACCACCTGCAAGAGAAGATATGGTAATGATCAGGCTTCCAAATTGGTCAGTGGGAACATCTCATGTTTGTTGTCCTCTATTTTGAAAAAATTATCTGGCCTAGAATATACCAATCTCACTGGAATTCCCCAGATGAAAAATAAGCACTTCCGTACAAAACACATTTTATATTTCTTTGATTGTATGTAGAATTATATAGAATTATTTCATGAATCACTGTAGTACCATAATATATGAAGGGTGCATTATTCTAATTTAATGGATTAATCATACTTTTTAAAAACAGTATTACTAAATTCTGTAATAACATGGTGATTTTATATACACATGACTAGGTGAAAGGATATTTCATAATTGGCCTTAGGAAAAATGTCTACAAAACTGAAGTTCATAAGTTGAACTCAAGCTATCACCAACATCCACAAACTGGGGGCGGGGGTGGGGGCGCTGCTGGTATATAATTATATTCACTAATCAAAACATACTTTGTCCCAGAAAACTCTTATATTTGGCTTTATGTTTGACACTTACTTCATGCATAGAATCCAAGAGTTTTGTCAGTTGATAAAACCGCTGCCAGTTCTGGCTGGAGTTTCCTTCCCTCTTGACAATGGCTTTTCCTAGCTCTTTGATGTAGGTCATTCTAATTTCATCAAATAGCTCTTGGCTCTTCAGACCGTCCTTAGGAACTAAAAGGTTAAGATGAAGTCAGTTAAAGGATTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTGAGATAGATAGGGTCTCACTGTGTCATCCAGGCTGGAGTGCAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACTGTAGGCACAAGCCACCATGTCTGAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACACAAGCCACTGTGTCTGGCTAAATTTTTTTGTAGAGACAGGATCTCCCTATGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCGGCCTCCCAAAGTGCCAGGATTACAGGTGTGAGCCACCATTCCCAGCCAGATTTCTTGCTATAACTTTTTATACATGCAAGATGGGCATTTAACATTGTTTATGTACTCTTACTGCACTCTAAAATATAAGCATTTTCTTAGGATTATTAATTAAACTACAGCCAAGAGAAAATGCAGGATAACAAAGAATTGGAGGACTTAACCTTGAGTAAATCACTTGATTTCTCATCTATAAAATGGAAGTGGTGATGATACACCTTCTCCTCCTTAGCTCACAAAGCTATTTGGAGGACCAAATGAAATAATACAGTGATTTTTAGTTAACTTTGTCTGCCATTCTGCACTTGAGTTTAATTCTAGTACTGAGATAGATAGAAGGCTTCAACAACAGTGTTTATTCCAGCAATTATATCTTGGAATATCTGTGATATCACCAGTTAATTATAACTTTAAAATCGGCATGCAATACTTTTTTTAATGTAGCTAATAGATATGTCTTAGTAGGGAGCAAATATCTGTCCTTCCTTATGTACATGGATTCTGGTTAGTGAAACTAGTATAAAAGTTTTGGGGGGATACATTACTCTTCAGAAAATGGTACTAATAAGGACAAGGAACAGAGGGTTAATCATGGTTTCACTTAATCCTGTGGAGATTAGGACTTTTGTAGAGTGCTACATTTTTCACAGTGTGCTCCTGGGAACACTGATTCTGTGTTAACTATAGTTAGAGCGAGACAAAGGATTTGGTGGTCAAAGTTTGAGAAAAGCTAAATGTTTAATACATATTAGGCAGACTTCTGAATTTCAGTACTTCTTGGAGATAT
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GGTGCCTTTAAGGATGTAAGCACCACCTTCCTGTCTCCTGTTTACATACTTTACATACTTTAGTGCAAGGGGAGATTGAGTAAACTAAACCTGCGCTGACAGACTCACTGTTGGAATGAGAAGGGTGGTCAGAATGGGAGGCAGAGGATAACTTCCTCTGTAATCTCACTGGGTCAGAGCCTCAGCAACCTTCACTGCACACAGGACCAGTCTCCATCTCCCTCTTCCCCTAGAGCAAACTGTTTGGTTTCTGAGACCATCGCTGCCTGTATGAATGCATGTACAAACTATAAATCATATAGGTTATCCATCAGCATTTCTTTGACCCCTACAAAAAATATATAACATGTCATGATAAAACAATCTCATCTAAAAATCATTCTTATTTTACACTATACAAGCTATTTTACAATCATTTTAATAAATTGCATGTAAAGCTGCAGTAGCCCTTCCCTTCCCAGATTAGTGAATACCAATATGATATATATCTGAAACTATAACTAAATATAAAAATATATTAGAAGTTCCATATTTTTAATATTAGATTTTCAGTTTTCTATTACACAAATAATTTGGCCACCTTGAATAGAAATCAAATTTCTTGTGGCTTAGTAAATATGTTAAGTTTTGAGTTTACAGAAAGTTGGTAAGGTGCACACAGAAAGGGCTACTACAGCTTCTATTTTGTTTAAAATAATTTTCAACAGTGAAGAAATTCACAGGACTTGTGTTAAACTCTATGGCACACATTAGGGATGTGTAGTTTTACAAACATGGATGTCTGACATACAGTTCTAAATCACAAAAATCAGTAGCTGAGCTTTCCTGTACCATCAGGAAAGATTAACCAATTGGTGACAGATGGGAATGTGAAAATGGGTGTCTAGCCATTTTTGCCATATTAGAGATTTAGTTTTTGGGTAAAGTTTAGTGAGAGGAATTACTTTGTCTGATTAAAAGTCTCTCAGCTGTGTTACAGCTGGTTATCTGGAATCACAACTTTTAAGAAGTTATACAAACTACTTCAAAAGGTCCTGAAAGACAAATAGTTTACCAGCTTTCTTGCCATATAGCCATTGCAAAAATAGGGCGTTAGGTACAGACAGGGCCTCTTGGTAGTTATTTTTTAAATTAGTCTTTTGCAACCATCATCCACAGTTTACCCAGCAGGTCACTGGACTAGGTGCTCTATACCAGTTAGGACTGTTAATTTGCACAACCTATATAATTCTCCACTGAAGCAGATATATACAAAATATGAGCTTTTTTTTTTTTTTTTTTGACAAGAATACTGGAGATTTGAGTCAATTTTTGTGGTCTTCTGATAGCTAAGTGCCATCAGGTTAGAAGCACCAACCCATTTTCACACAGATGATTGATTAATGTTTAGAGTTTATTTGGGAAAGCTACGAACTAGCTGCCCATCTTAAACAGCTGTACAATAACTTGAATAAAAAATTATGTAAGAAAAAATGAGCAAGCGTAGTTCACTAAATATAAAGGAAATTGTTAAAACCAGACAGTAATAGCTATAAAAGGCACAACTTCCCTTTTCTGATATACACTTGTAAACTTTTTTTCAGGTTTCCATGCATAAATCAAAAATGCTATCCTAACTATACAGGGGGGGGATACACCAACAGAAAGTCTAGAAAATTTCATCCAGCCAACTGTGAAAAAAAGTATGAAGAGAAAGTTCATCACACAGACTTTGGGCACTGGTGGTTTAGGTGCCATCCTTCTTTGACTGTGGAGATTACGTCCACATATTAAGGTTTCTAATTTCTGGGATATATTAACTAATAAATTTCACCATCTACTCTCCCATCACTGAAAAGTGATGACGACTCAACTGCTTCTGTTGCCAAGTCTTGGCCCTCTATAAACCACATGTAGTGCGTATTTAAAACAAAACAACAGATGAAAACAATAAAAAATAAAACAACAAAACCTCTACAGGACAAACTGATAGTTTATACAATAAAAGCTATTAATTCGACTTTCTTTAAGGCAACCATTCTTATTAAGGCAGTCACTTTTGATGAAACGGAAGTTTTTTGATATTTCCATTTGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAACATCTCGGGGAATTCAATACTCATGGTCTTATCCAAAAATGTTTGGAAGCAATAGTTAAGGAGATTTTCAACCACCTGCAAGAGAAGATATGGTAATGATCAGGCTTCCAAATTGGTCAGTGGGAACATCTCATGTTTGTTGTCCTCTATTTTGAAAAAATTATCTGGCCTAGAATATACCAATCTCACTGGAATTCCCCAGATGAAAAATAAGCACTTCCGTACAAAACACATTTTATATTTCTTTGATTGTATGTAGAATTATATAGAATTATTTCATGAATCACTGTAGTACCATAATATATGAAGGGTGCATTATTCTAATTTAATGGATTAATCATACTTTTTAAAAACAGTATTACTAAATTCTGTAATAACATGGTGATTTTATATACACATGACTAGGTGAAAGGATATTTCATAATTGGCCTTAGGAAAAATGTCTACAAAACTGAAGTTCATAAGTTGAACTCAAGCTATCACCAACATCCACAAACTGGGGGCGGGGGTGGGGGCGCTGCTGGTATATAATTATATTCACTAATCAAAACATACTTTGTCCCAGAAAACTCTTATATTTGGCTTTATGTTTGACACTTACTTCATGCATAGAATCCAAGAGTTTTGTCAGTTGATAAAACCGCTGCCAGTTCTGGCTGGAGTTTCCTTCCCTCTTGACAATGGCTTTTCCTAGCTCTTTGATGTAGGTCATTCTAATTTCATCAAATAGCTCTTGGCTCTTCAGACCGTCCTTAGGAACTAAAAGGTTAAGATGAAGTCAGTTAAAGGATTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTGAGATAGATAGGGTCTCACTGTGTCATCCAGGCTGGAGTGCAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACTGTAGGCACAAGCCACCATGTCTGAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACACAAGCCACTGTGTCTGGCTAAATTTTTTTGTAGAGACAGGATCTCCCTATGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCGGCCTCCCAAAGTGCCAGGATTACAGGTGTGAGCCACCATTCCCAGCCAGATTTCTTGCTATAACTTTTTATACATGCAAGATGGGCATTTAACATTGTTTATGTACTCTTACTGCACTCTAAAATATAAGCATTTTCTTAGGATTATTAATTAAACTACAGCCAAGAGAAAATGCAGGATAACAAAGAATTGGAGGACTTAACCTTGAGTAAATCACTTGATTTCTCATCTATAAAATGGAAGTGGTGATGATACACCTTCTCCTCCTTAGCTCACAAAGCTATTTGGAGGACCAAATGAAATAATACAGTGATTTTTAGTTAACTTTGTCTGCCATTCTGCACTTGAGTTTAATTCTAGTACTGAGATAGATAGAAGGCTTCAACAACAGTGTTTATTCCAGCAATTATATCTTGGAATATCTGTGATATCACCAGTTAATTATAACTTTAAAATCGGCATGCAATACTTTTTTTAATGTAGCTAATAGATATGTCTTAGTAGGGAGCAAATATCTGTCCTTCCTTATGTACATGGATTCTGGTTAGTGAAACTAGTATAAAAGTTTTGGGGGGATACATTACTCTTCAGAAAATGGTACTAATAAGGACAAGGAACAGAGGGTTAATCATGGTTTCACTTAATCCTGTGGAGATTAGGACTTTTGTAGAGTGCTACATTTTTCACAGTGTGCTCCTGGGAACACTGATTCTGTGTTAACTATAGTTAGAGCGAGACAAAGGATTTGGTGGTCAAAGTTTGAGAAAAGCTAAATGTTTAATACATATTAGGCAGACTTCTGAATTTCAGTACTTCTTGGAGATAT
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Task1_train_9590
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This gene mutation involves NR3C1 (nuclear receptor subfamily 3 group C member 1) on Chromosome 5. Is it associated with any clinical condition, or is it benign?
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Pathogenic; GLUCOCORTICOID RESISTANCE, CELLULAR
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TTAGTGCAAGGGGAGATTGAGTAAACTAAACCTGCGCTGACAGACTCACTGTTGGAATGAGAAGGGTGGTCAGAATGGGAGGCAGAGGATAACTTCCTCTGTAATCTCACTGGGTCAGAGCCTCAGCAACCTTCACTGCACACAGGACCAGTCTCCATCTCCCTCTTCCCCTAGAGCAAACTGTTTGGTTTCTGAGACCATCGCTGCCTGTATGAATGCATGTACAAACTATAAATCATATAGGTTATCCATCAGCATTTCTTTGACCCCTACAAAAAATATATAACATGTCATGATAAAACAATCTCATCTAAAAATCATTCTTATTTTACACTATACAAGCTATTTTACAATCATTTTAATAAATTGCATGTAAAGCTGCAGTAGCCCTTCCCTTCCCAGATTAGTGAATACCAATATGATATATATCTGAAACTATAACTAAATATAAAAATATATTAGAAGTTCCATATTTTTAATATTAGATTTTCAGTTTTCTATTACACAAATAATTTGGCCACCTTGAATAGAAATCAAATTTCTTGTGGCTTAGTAAATATGTTAAGTTTTGAGTTTACAGAAAGTTGGTAAGGTGCACACAGAAAGGGCTACTACAGCTTCTATTTTGTTTAAAATAATTTTCAACAGTGAAGAAATTCACAGGACTTGTGTTAAACTCTATGGCACACATTAGGGATGTGTAGTTTTACAAACATGGATGTCTGACATACAGTTCTAAATCACAAAAATCAGTAGCTGAGCTTTCCTGTACCATCAGGAAAGATTAACCAATTGGTGACAGATGGGAATGTGAAAATGGGTGTCTAGCCATTTTTGCCATATTAGAGATTTAGTTTTTGGGTAAAGTTTAGTGAGAGGAATTACTTTGTCTGATTAAAAGTCTCTCAGCTGTGTTACAGCTGGTTATCTGGAATCACAACTTTTAAGAAGTTATACAAACTACTTCAAAAGGTCCTGAAAGACAAATAGTTTACCAGCTTTCTTGCCATATAGCCATTGCAAAAATAGGGCGTTAGGTACAGACAGGGCCTCTTGGTAGTTATTTTTTAAATTAGTCTTTTGCAACCATCATCCACAGTTTACCCAGCAGGTCACTGGACTAGGTGCTCTATACCAGTTAGGACTGTTAATTTGCACAACCTATATAATTCTCCACTGAAGCAGATATATACAAAATATGAGCTTTTTTTTTTTTTTTTTTGACAAGAATACTGGAGATTTGAGTCAATTTTTGTGGTCTTCTGATAGCTAAGTGCCATCAGGTTAGAAGCACCAACCCATTTTCACACAGATGATTGATTAATGTTTAGAGTTTATTTGGGAAAGCTACGAACTAGCTGCCCATCTTAAACAGCTGTACAATAACTTGAATAAAAAATTATGTAAGAAAAAATGAGCAAGCGTAGTTCACTAAATATAAAGGAAATTGTTAAAACCAGACAGTAATAGCTATAAAAGGCACAACTTCCCTTTTCTGATATACACTTGTAAACTTTTTTTCAGGTTTCCATGCATAAATCAAAAATGCTATCCTAACTATACAGGGGGGGGATACACCAACAGAAAGTCTAGAAAATTTCATCCAGCCAACTGTGAAAAAAAGTATGAAGAGAAAGTTCATCACACAGACTTTGGGCACTGGTGGTTTAGGTGCCATCCTTCTTTGACTGTGGAGATTACGTCCACATATTAAGGTTTCTAATTTCTGGGATATATTAACTAATAAATTTCACCATCTACTCTCCCATCACTGAAAAGTGATGACGACTCAACTGCTTCTGTTGCCAAGTCTTGGCCCTCTATAAACCACATGTAGTGCGTATTTAAAACAAAACAACAGATGAAAACAATAAAAAATAAAACAACAAAACCTCTACAGGACAAACTGATAGTTTATACAATAAAAGCTATTAATTCGACTTTCTTTAAGGCAACCATTCTTATTAAGGCAGTCACTTTTGATGAAACAGAAGTTTTTTGATATTTCCATTTGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAACATCTCGGGGAATTCAATACTCATGGTCTTATCCAAAAATGTTTGGAAGCAATAGTTAAGGAGATTTTCAACCACCTGCAAGAGAAGATATGGTAATGATCAGGCTTCCAAATTGGTCAGTGGGAACATCTCATGTTTGTTGTCCTCTATTTTGAAAAAATTATCTGGCCTAGAATATACCAATCTCACTGGAATTCCCCAGATGAAAAATAAGCACTTCCGTACAAAACACATTTTATATTTCTTTGATTGTATGTAGAATTATATAGAATTATTTCATGAATCACTGTAGTACCATAATATATGAAGGGTGCATTATTCTAATTTAATGGATTAATCATACTTTTTAAAAACAGTATTACTAAATTCTGTAATAACATGGTGATTTTATATACACATGACTAGGTGAAAGGATATTTCATAATTGGCCTTAGGAAAAATGTCTACAAAACTGAAGTTCATAAGTTGAACTCAAGCTATCACCAACATCCACAAACTGGGGGCGGGGGTGGGGGCGCTGCTGGTATATAATTATATTCACTAATCAAAACATACTTTGTCCCAGAAAACTCTTATATTTGGCTTTATGTTTGACACTTACTTCATGCATAGAATCCAAGAGTTTTGTCAGTTGATAAAACCGCTGCCAGTTCTGGCTGGAGTTTCCTTCCCTCTTGACAATGGCTTTTCCTAGCTCTTTGATGTAGGTCATTCTAATTTCATCAAATAGCTCTTGGCTCTTCAGACCGTCCTTAGGAACTAAAAGGTTAAGATGAAGTCAGTTAAAGGATTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTGAGATAGATAGGGTCTCACTGTGTCATCCAGGCTGGAGTGCAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACTGTAGGCACAAGCCACCATGTCTGAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACACAAGCCACTGTGTCTGGCTAAATTTTTTTGTAGAGACAGGATCTCCCTATGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCGGCCTCCCAAAGTGCCAGGATTACAGGTGTGAGCCACCATTCCCAGCCAGATTTCTTGCTATAACTTTTTATACATGCAAGATGGGCATTTAACATTGTTTATGTACTCTTACTGCACTCTAAAATATAAGCATTTTCTTAGGATTATTAATTAAACTACAGCCAAGAGAAAATGCAGGATAACAAAGAATTGGAGGACTTAACCTTGAGTAAATCACTTGATTTCTCATCTATAAAATGGAAGTGGTGATGATACACCTTCTCCTCCTTAGCTCACAAAGCTATTTGGAGGACCAAATGAAATAATACAGTGATTTTTAGTTAACTTTGTCTGCCATTCTGCACTTGAGTTTAATTCTAGTACTGAGATAGATAGAAGGCTTCAACAACAGTGTTTATTCCAGCAATTATATCTTGGAATATCTGTGATATCACCAGTTAATTATAACTTTAAAATCGGCATGCAATACTTTTTTTAATGTAGCTAATAGATATGTCTTAGTAGGGAGCAAATATCTGTCCTTCCTTATGTACATGGATTCTGGTTAGTGAAACTAGTATAAAAGTTTTGGGGGGATACATTACTCTTCAGAAAATGGTACTAATAAGGACAAGGAACAGAGGGTTAATCATGGTTTCACTTAATCCTGTGGAGATTAGGACTTTTGTAGAGTGCTACATTTTTCACAGTGTGCTCCTGGGAACACTGATTCTGTGTTAACTATAGTTAGAGCGAGACAAAGGATTTGGTGGTCAAAGTTTGAGAAAAGCTAAATGTTTAATACATATTAGGCAGACTTCTGAATTTCAGTACTTCTTGGAGATATAACTGTGCACTCTCCAGAGAGGGGAAATGCATTATTTCCCAAACTGAAACTTCACTGCT
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TTAGTGCAAGGGGAGATTGAGTAAACTAAACCTGCGCTGACAGACTCACTGTTGGAATGAGAAGGGTGGTCAGAATGGGAGGCAGAGGATAACTTCCTCTGTAATCTCACTGGGTCAGAGCCTCAGCAACCTTCACTGCACACAGGACCAGTCTCCATCTCCCTCTTCCCCTAGAGCAAACTGTTTGGTTTCTGAGACCATCGCTGCCTGTATGAATGCATGTACAAACTATAAATCATATAGGTTATCCATCAGCATTTCTTTGACCCCTACAAAAAATATATAACATGTCATGATAAAACAATCTCATCTAAAAATCATTCTTATTTTACACTATACAAGCTATTTTACAATCATTTTAATAAATTGCATGTAAAGCTGCAGTAGCCCTTCCCTTCCCAGATTAGTGAATACCAATATGATATATATCTGAAACTATAACTAAATATAAAAATATATTAGAAGTTCCATATTTTTAATATTAGATTTTCAGTTTTCTATTACACAAATAATTTGGCCACCTTGAATAGAAATCAAATTTCTTGTGGCTTAGTAAATATGTTAAGTTTTGAGTTTACAGAAAGTTGGTAAGGTGCACACAGAAAGGGCTACTACAGCTTCTATTTTGTTTAAAATAATTTTCAACAGTGAAGAAATTCACAGGACTTGTGTTAAACTCTATGGCACACATTAGGGATGTGTAGTTTTACAAACATGGATGTCTGACATACAGTTCTAAATCACAAAAATCAGTAGCTGAGCTTTCCTGTACCATCAGGAAAGATTAACCAATTGGTGACAGATGGGAATGTGAAAATGGGTGTCTAGCCATTTTTGCCATATTAGAGATTTAGTTTTTGGGTAAAGTTTAGTGAGAGGAATTACTTTGTCTGATTAAAAGTCTCTCAGCTGTGTTACAGCTGGTTATCTGGAATCACAACTTTTAAGAAGTTATACAAACTACTTCAAAAGGTCCTGAAAGACAAATAGTTTACCAGCTTTCTTGCCATATAGCCATTGCAAAAATAGGGCGTTAGGTACAGACAGGGCCTCTTGGTAGTTATTTTTTAAATTAGTCTTTTGCAACCATCATCCACAGTTTACCCAGCAGGTCACTGGACTAGGTGCTCTATACCAGTTAGGACTGTTAATTTGCACAACCTATATAATTCTCCACTGAAGCAGATATATACAAAATATGAGCTTTTTTTTTTTTTTTTTTGACAAGAATACTGGAGATTTGAGTCAATTTTTGTGGTCTTCTGATAGCTAAGTGCCATCAGGTTAGAAGCACCAACCCATTTTCACACAGATGATTGATTAATGTTTAGAGTTTATTTGGGAAAGCTACGAACTAGCTGCCCATCTTAAACAGCTGTACAATAACTTGAATAAAAAATTATGTAAGAAAAAATGAGCAAGCGTAGTTCACTAAATATAAAGGAAATTGTTAAAACCAGACAGTAATAGCTATAAAAGGCACAACTTCCCTTTTCTGATATACACTTGTAAACTTTTTTTCAGGTTTCCATGCATAAATCAAAAATGCTATCCTAACTATACAGGGGGGGGATACACCAACAGAAAGTCTAGAAAATTTCATCCAGCCAACTGTGAAAAAAAGTATGAAGAGAAAGTTCATCACACAGACTTTGGGCACTGGTGGTTTAGGTGCCATCCTTCTTTGACTGTGGAGATTACGTCCACATATTAAGGTTTCTAATTTCTGGGATATATTAACTAATAAATTTCACCATCTACTCTCCCATCACTGAAAAGTGATGACGACTCAACTGCTTCTGTTGCCAAGTCTTGGCCCTCTATAAACCACATGTAGTGCGTATTTAAAACAAAACAACAGATGAAAACAATAAAAAATAAAACAACAAAACCTCTACAGGACAAACTGATAGTTTATACAATAAAAGCTATTAATTCGACTTTCTTTAAGGCAACCATTCTTATTAAGGCAGTCACTTTTGATGAAACAGAAGTTTTTTGATATTTCCATTTGAATATTTTGGTATCTGATTGGTGATGATTTCAGCAAACATCTCGGGGAATTCAATACTCATGGTCTTATCCAAAAATGTTTGGAAGCAATAGTTAAGGAGATTTTCAACCACCTGCAAGAGAAGATATGGTAATGATCAGGCTTCCAAATTGGTCAGTGGGAACATCTCATGTTTGTTGTCCTCTATTTTGAAAAAATTATCTGGCCTAGAATATACCAATCTCACTGGAATTCCCCAGATGAAAAATAAGCACTTCCGTACAAAACACATTTTATATTTCTTTGATTGTATGTAGAATTATATAGAATTATTTCATGAATCACTGTAGTACCATAATATATGAAGGGTGCATTATTCTAATTTAATGGATTAATCATACTTTTTAAAAACAGTATTACTAAATTCTGTAATAACATGGTGATTTTATATACACATGACTAGGTGAAAGGATATTTCATAATTGGCCTTAGGAAAAATGTCTACAAAACTGAAGTTCATAAGTTGAACTCAAGCTATCACCAACATCCACAAACTGGGGGCGGGGGTGGGGGCGCTGCTGGTATATAATTATATTCACTAATCAAAACATACTTTGTCCCAGAAAACTCTTATATTTGGCTTTATGTTTGACACTTACTTCATGCATAGAATCCAAGAGTTTTGTCAGTTGATAAAACCGCTGCCAGTTCTGGCTGGAGTTTCCTTCCCTCTTGACAATGGCTTTTCCTAGCTCTTTGATGTAGGTCATTCTAATTTCATCAAATAGCTCTTGGCTCTTCAGACCGTCCTTAGGAACTAAAAGGTTAAGATGAAGTCAGTTAAAGGATTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTGAGATAGATAGGGTCTCACTGTGTCATCCAGGCTGGAGTGCAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACTGTAGGCACAAGCCACCATGTCTGAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACACAAGCCACTGTGTCTGGCTAAATTTTTTTGTAGAGACAGGATCTCCCTATGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCGGCCTCCCAAAGTGCCAGGATTACAGGTGTGAGCCACCATTCCCAGCCAGATTTCTTGCTATAACTTTTTATACATGCAAGATGGGCATTTAACATTGTTTATGTACTCTTACTGCACTCTAAAATATAAGCATTTTCTTAGGATTATTAATTAAACTACAGCCAAGAGAAAATGCAGGATAACAAAGAATTGGAGGACTTAACCTTGAGTAAATCACTTGATTTCTCATCTATAAAATGGAAGTGGTGATGATACACCTTCTCCTCCTTAGCTCACAAAGCTATTTGGAGGACCAAATGAAATAATACAGTGATTTTTAGTTAACTTTGTCTGCCATTCTGCACTTGAGTTTAATTCTAGTACTGAGATAGATAGAAGGCTTCAACAACAGTGTTTATTCCAGCAATTATATCTTGGAATATCTGTGATATCACCAGTTAATTATAACTTTAAAATCGGCATGCAATACTTTTTTTAATGTAGCTAATAGATATGTCTTAGTAGGGAGCAAATATCTGTCCTTCCTTATGTACATGGATTCTGGTTAGTGAAACTAGTATAAAAGTTTTGGGGGGATACATTACTCTTCAGAAAATGGTACTAATAAGGACAAGGAACAGAGGGTTAATCATGGTTTCACTTAATCCTGTGGAGATTAGGACTTTTGTAGAGTGCTACATTTTTCACAGTGTGCTCCTGGGAACACTGATTCTGTGTTAACTATAGTTAGAGCGAGACAAAGGATTTGGTGGTCAAAGTTTGAGAAAAGCTAAATGTTTAATACATATTAGGCAGACTTCTGAATTTCAGTACTTCTTGGAGATATAACTGTGCACTCTCCAGAGAGGGGAAATGCATTATTTCCCAAACTGAAACTTCACTGCT
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Task1_train_9591
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Gene NR3C1 (nuclear receptor subfamily 3 group C member 1) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Glucocorticoid resistance
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GAGTAAACTAAACCTGCGCTGACAGACTCACTGTTGGAATGAGAAGGGTGGTCAGAATGGGAGGCAGAGGATAACTTCCTCTGTAATCTCACTGGGTCAGAGCCTCAGCAACCTTCACTGCACACAGGACCAGTCTCCATCTCCCTCTTCCCCTAGAGCAAACTGTTTGGTTTCTGAGACCATCGCTGCCTGTATGAATGCATGTACAAACTATAAATCATATAGGTTATCCATCAGCATTTCTTTGACCCCTACAAAAAATATATAACATGTCATGATAAAACAATCTCATCTAAAAATCATTCTTATTTTACACTATACAAGCTATTTTACAATCATTTTAATAAATTGCATGTAAAGCTGCAGTAGCCCTTCCCTTCCCAGATTAGTGAATACCAATATGATATATATCTGAAACTATAACTAAATATAAAAATATATTAGAAGTTCCATATTTTTAATATTAGATTTTCAGTTTTCTATTACACAAATAATTTGGCCACCTTGAATAGAAATCAAATTTCTTGTGGCTTAGTAAATATGTTAAGTTTTGAGTTTACAGAAAGTTGGTAAGGTGCACACAGAAAGGGCTACTACAGCTTCTATTTTGTTTAAAATAATTTTCAACAGTGAAGAAATTCACAGGACTTGTGTTAAACTCTATGGCACACATTAGGGATGTGTAGTTTTACAAACATGGATGTCTGACATACAGTTCTAAATCACAAAAATCAGTAGCTGAGCTTTCCTGTACCATCAGGAAAGATTAACCAATTGGTGACAGATGGGAATGTGAAAATGGGTGTCTAGCCATTTTTGCCATATTAGAGATTTAGTTTTTGGGTAAAGTTTAGTGAGAGGAATTACTTTGTCTGATTAAAAGTCTCTCAGCTGTGTTACAGCTGGTTATCTGGAATCACAACTTTTAAGAAGTTATACAAACTACTTCAAAAGGTCCTGAAAGACAAATAGTTTACCAGCTTTCTTGCCATATAGCCATTGCAAAAATAGGGCGTTAGGTACAGACAGGGCCTCTTGGTAGTTATTTTTTAAATTAGTCTTTTGCAACCATCATCCACAGTTTACCCAGCAGGTCACTGGACTAGGTGCTCTATACCAGTTAGGACTGTTAATTTGCACAACCTATATAATTCTCCACTGAAGCAGATATATACAAAATATGAGCTTTTTTTTTTTTTTTTTTGACAAGAATACTGGAGATTTGAGTCAATTTTTGTGGTCTTCTGATAGCTAAGTGCCATCAGGTTAGAAGCACCAACCCATTTTCACACAGATGATTGATTAATGTTTAGAGTTTATTTGGGAAAGCTACGAACTAGCTGCCCATCTTAAACAGCTGTACAATAACTTGAATAAAAAATTATGTAAGAAAAAATGAGCAAGCGTAGTTCACTAAATATAAAGGAAATTGTTAAAACCAGACAGTAATAGCTATAAAAGGCACAACTTCCCTTTTCTGATATACACTTGTAAACTTTTTTTCAGGTTTCCATGCATAAATCAAAAATGCTATCCTAACTATACAGGGGGGGGATACACCAACAGAAAGTCTAGAAAATTTCATCCAGCCAACTGTGAAAAAAAGTATGAAGAGAAAGTTCATCACACAGACTTTGGGCACTGGTGGTTTAGGTGCCATCCTTCTTTGACTGTGGAGATTACGTCCACATATTAAGGTTTCTAATTTCTGGGATATATTAACTAATAAATTTCACCATCTACTCTCCCATCACTGAAAAGTGATGACGACTCAACTGCTTCTGTTGCCAAGTCTTGGCCCTCTATAAACCACATGTAGTGCGTATTTAAAACAAAACAACAGATGAAAACAATAAAAAATAAAACAACAAAACCTCTACAGGACAAACTGATAGTTTATACAATAAAAGCTATTAATTCGACTTTCTTTAAGGCAACCATTCTTATTAAGGCAGTCACTTTTGATGAAACAGAAGTTTTTTGATATTTCCATTTGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAACATCTCGGGGAATTCAATACTCATGGTCTTATCCAAAAATGTTTGGAAGCAATAGTTAAGGAGATTTTCAACCACCTGCAAGAGAAGATATGGTAATGATCAGGCTTCCAAATTGGTCAGTGGGAACATCTCATGTTTGTTGTCCTCTATTTTGAAAAAATTATCTGGCCTAGAATATACCAATCTCACTGGAATTCCCCAGATGAAAAATAAGCACTTCCGTACAAAACACATTTTATATTTCTTTGATTGTATGTAGAATTATATAGAATTATTTCATGAATCACTGTAGTACCATAATATATGAAGGGTGCATTATTCTAATTTAATGGATTAATCATACTTTTTAAAAACAGTATTACTAAATTCTGTAATAACATGGTGATTTTATATACACATGACTAGGTGAAAGGATATTTCATAATTGGCCTTAGGAAAAATGTCTACAAAACTGAAGTTCATAAGTTGAACTCAAGCTATCACCAACATCCACAAACTGGGGGCGGGGGTGGGGGCGCTGCTGGTATATAATTATATTCACTAATCAAAACATACTTTGTCCCAGAAAACTCTTATATTTGGCTTTATGTTTGACACTTACTTCATGCATAGAATCCAAGAGTTTTGTCAGTTGATAAAACCGCTGCCAGTTCTGGCTGGAGTTTCCTTCCCTCTTGACAATGGCTTTTCCTAGCTCTTTGATGTAGGTCATTCTAATTTCATCAAATAGCTCTTGGCTCTTCAGACCGTCCTTAGGAACTAAAAGGTTAAGATGAAGTCAGTTAAAGGATTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTGAGATAGATAGGGTCTCACTGTGTCATCCAGGCTGGAGTGCAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACTGTAGGCACAAGCCACCATGTCTGAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACACAAGCCACTGTGTCTGGCTAAATTTTTTTGTAGAGACAGGATCTCCCTATGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCGGCCTCCCAAAGTGCCAGGATTACAGGTGTGAGCCACCATTCCCAGCCAGATTTCTTGCTATAACTTTTTATACATGCAAGATGGGCATTTAACATTGTTTATGTACTCTTACTGCACTCTAAAATATAAGCATTTTCTTAGGATTATTAATTAAACTACAGCCAAGAGAAAATGCAGGATAACAAAGAATTGGAGGACTTAACCTTGAGTAAATCACTTGATTTCTCATCTATAAAATGGAAGTGGTGATGATACACCTTCTCCTCCTTAGCTCACAAAGCTATTTGGAGGACCAAATGAAATAATACAGTGATTTTTAGTTAACTTTGTCTGCCATTCTGCACTTGAGTTTAATTCTAGTACTGAGATAGATAGAAGGCTTCAACAACAGTGTTTATTCCAGCAATTATATCTTGGAATATCTGTGATATCACCAGTTAATTATAACTTTAAAATCGGCATGCAATACTTTTTTTAATGTAGCTAATAGATATGTCTTAGTAGGGAGCAAATATCTGTCCTTCCTTATGTACATGGATTCTGGTTAGTGAAACTAGTATAAAAGTTTTGGGGGGATACATTACTCTTCAGAAAATGGTACTAATAAGGACAAGGAACAGAGGGTTAATCATGGTTTCACTTAATCCTGTGGAGATTAGGACTTTTGTAGAGTGCTACATTTTTCACAGTGTGCTCCTGGGAACACTGATTCTGTGTTAACTATAGTTAGAGCGAGACAAAGGATTTGGTGGTCAAAGTTTGAGAAAAGCTAAATGTTTAATACATATTAGGCAGACTTCTGAATTTCAGTACTTCTTGGAGATATAACTGTGCACTCTCCAGAGAGGGGAAATGCATTATTTCCCAAACTGAAACTTCACTGCTGCTGACATTTTTAGAAGA
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GAGTAAACTAAACCTGCGCTGACAGACTCACTGTTGGAATGAGAAGGGTGGTCAGAATGGGAGGCAGAGGATAACTTCCTCTGTAATCTCACTGGGTCAGAGCCTCAGCAACCTTCACTGCACACAGGACCAGTCTCCATCTCCCTCTTCCCCTAGAGCAAACTGTTTGGTTTCTGAGACCATCGCTGCCTGTATGAATGCATGTACAAACTATAAATCATATAGGTTATCCATCAGCATTTCTTTGACCCCTACAAAAAATATATAACATGTCATGATAAAACAATCTCATCTAAAAATCATTCTTATTTTACACTATACAAGCTATTTTACAATCATTTTAATAAATTGCATGTAAAGCTGCAGTAGCCCTTCCCTTCCCAGATTAGTGAATACCAATATGATATATATCTGAAACTATAACTAAATATAAAAATATATTAGAAGTTCCATATTTTTAATATTAGATTTTCAGTTTTCTATTACACAAATAATTTGGCCACCTTGAATAGAAATCAAATTTCTTGTGGCTTAGTAAATATGTTAAGTTTTGAGTTTACAGAAAGTTGGTAAGGTGCACACAGAAAGGGCTACTACAGCTTCTATTTTGTTTAAAATAATTTTCAACAGTGAAGAAATTCACAGGACTTGTGTTAAACTCTATGGCACACATTAGGGATGTGTAGTTTTACAAACATGGATGTCTGACATACAGTTCTAAATCACAAAAATCAGTAGCTGAGCTTTCCTGTACCATCAGGAAAGATTAACCAATTGGTGACAGATGGGAATGTGAAAATGGGTGTCTAGCCATTTTTGCCATATTAGAGATTTAGTTTTTGGGTAAAGTTTAGTGAGAGGAATTACTTTGTCTGATTAAAAGTCTCTCAGCTGTGTTACAGCTGGTTATCTGGAATCACAACTTTTAAGAAGTTATACAAACTACTTCAAAAGGTCCTGAAAGACAAATAGTTTACCAGCTTTCTTGCCATATAGCCATTGCAAAAATAGGGCGTTAGGTACAGACAGGGCCTCTTGGTAGTTATTTTTTAAATTAGTCTTTTGCAACCATCATCCACAGTTTACCCAGCAGGTCACTGGACTAGGTGCTCTATACCAGTTAGGACTGTTAATTTGCACAACCTATATAATTCTCCACTGAAGCAGATATATACAAAATATGAGCTTTTTTTTTTTTTTTTTTGACAAGAATACTGGAGATTTGAGTCAATTTTTGTGGTCTTCTGATAGCTAAGTGCCATCAGGTTAGAAGCACCAACCCATTTTCACACAGATGATTGATTAATGTTTAGAGTTTATTTGGGAAAGCTACGAACTAGCTGCCCATCTTAAACAGCTGTACAATAACTTGAATAAAAAATTATGTAAGAAAAAATGAGCAAGCGTAGTTCACTAAATATAAAGGAAATTGTTAAAACCAGACAGTAATAGCTATAAAAGGCACAACTTCCCTTTTCTGATATACACTTGTAAACTTTTTTTCAGGTTTCCATGCATAAATCAAAAATGCTATCCTAACTATACAGGGGGGGGATACACCAACAGAAAGTCTAGAAAATTTCATCCAGCCAACTGTGAAAAAAAGTATGAAGAGAAAGTTCATCACACAGACTTTGGGCACTGGTGGTTTAGGTGCCATCCTTCTTTGACTGTGGAGATTACGTCCACATATTAAGGTTTCTAATTTCTGGGATATATTAACTAATAAATTTCACCATCTACTCTCCCATCACTGAAAAGTGATGACGACTCAACTGCTTCTGTTGCCAAGTCTTGGCCCTCTATAAACCACATGTAGTGCGTATTTAAAACAAAACAACAGATGAAAACAATAAAAAATAAAACAACAAAACCTCTACAGGACAAACTGATAGTTTATACAATAAAAGCTATTAATTCGACTTTCTTTAAGGCAACCATTCTTATTAAGGCAGTCACTTTTGATGAAACAGAAGTTTTTTGATATTTCCATTTGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAACATCTCGGGGAATTCCATACTCATGGTCTTATCCAAAAATGTTTGGAAGCAATAGTTAAGGAGATTTTCAACCACCTGCAAGAGAAGATATGGTAATGATCAGGCTTCCAAATTGGTCAGTGGGAACATCTCATGTTTGTTGTCCTCTATTTTGAAAAAATTATCTGGCCTAGAATATACCAATCTCACTGGAATTCCCCAGATGAAAAATAAGCACTTCCGTACAAAACACATTTTATATTTCTTTGATTGTATGTAGAATTATATAGAATTATTTCATGAATCACTGTAGTACCATAATATATGAAGGGTGCATTATTCTAATTTAATGGATTAATCATACTTTTTAAAAACAGTATTACTAAATTCTGTAATAACATGGTGATTTTATATACACATGACTAGGTGAAAGGATATTTCATAATTGGCCTTAGGAAAAATGTCTACAAAACTGAAGTTCATAAGTTGAACTCAAGCTATCACCAACATCCACAAACTGGGGGCGGGGGTGGGGGCGCTGCTGGTATATAATTATATTCACTAATCAAAACATACTTTGTCCCAGAAAACTCTTATATTTGGCTTTATGTTTGACACTTACTTCATGCATAGAATCCAAGAGTTTTGTCAGTTGATAAAACCGCTGCCAGTTCTGGCTGGAGTTTCCTTCCCTCTTGACAATGGCTTTTCCTAGCTCTTTGATGTAGGTCATTCTAATTTCATCAAATAGCTCTTGGCTCTTCAGACCGTCCTTAGGAACTAAAAGGTTAAGATGAAGTCAGTTAAAGGATTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTGAGATAGATAGGGTCTCACTGTGTCATCCAGGCTGGAGTGCAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACTGTAGGCACAAGCCACCATGTCTGAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACACAAGCCACTGTGTCTGGCTAAATTTTTTTGTAGAGACAGGATCTCCCTATGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCGGCCTCCCAAAGTGCCAGGATTACAGGTGTGAGCCACCATTCCCAGCCAGATTTCTTGCTATAACTTTTTATACATGCAAGATGGGCATTTAACATTGTTTATGTACTCTTACTGCACTCTAAAATATAAGCATTTTCTTAGGATTATTAATTAAACTACAGCCAAGAGAAAATGCAGGATAACAAAGAATTGGAGGACTTAACCTTGAGTAAATCACTTGATTTCTCATCTATAAAATGGAAGTGGTGATGATACACCTTCTCCTCCTTAGCTCACAAAGCTATTTGGAGGACCAAATGAAATAATACAGTGATTTTTAGTTAACTTTGTCTGCCATTCTGCACTTGAGTTTAATTCTAGTACTGAGATAGATAGAAGGCTTCAACAACAGTGTTTATTCCAGCAATTATATCTTGGAATATCTGTGATATCACCAGTTAATTATAACTTTAAAATCGGCATGCAATACTTTTTTTAATGTAGCTAATAGATATGTCTTAGTAGGGAGCAAATATCTGTCCTTCCTTATGTACATGGATTCTGGTTAGTGAAACTAGTATAAAAGTTTTGGGGGGATACATTACTCTTCAGAAAATGGTACTAATAAGGACAAGGAACAGAGGGTTAATCATGGTTTCACTTAATCCTGTGGAGATTAGGACTTTTGTAGAGTGCTACATTTTTCACAGTGTGCTCCTGGGAACACTGATTCTGTGTTAACTATAGTTAGAGCGAGACAAAGGATTTGGTGGTCAAAGTTTGAGAAAAGCTAAATGTTTAATACATATTAGGCAGACTTCTGAATTTCAGTACTTCTTGGAGATATAACTGTGCACTCTCCAGAGAGGGGAAATGCATTATTTCCCAAACTGAAACTTCACTGCTGCTGACATTTTTAGAAGA
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Task1_train_9592
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A variant found in Chromosome 5 affects NR3C1 (nuclear receptor subfamily 3 group C member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Glucocorticoid resistance
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GTTGGAATGAGAAGGGTGGTCAGAATGGGAGGCAGAGGATAACTTCCTCTGTAATCTCACTGGGTCAGAGCCTCAGCAACCTTCACTGCACACAGGACCAGTCTCCATCTCCCTCTTCCCCTAGAGCAAACTGTTTGGTTTCTGAGACCATCGCTGCCTGTATGAATGCATGTACAAACTATAAATCATATAGGTTATCCATCAGCATTTCTTTGACCCCTACAAAAAATATATAACATGTCATGATAAAACAATCTCATCTAAAAATCATTCTTATTTTACACTATACAAGCTATTTTACAATCATTTTAATAAATTGCATGTAAAGCTGCAGTAGCCCTTCCCTTCCCAGATTAGTGAATACCAATATGATATATATCTGAAACTATAACTAAATATAAAAATATATTAGAAGTTCCATATTTTTAATATTAGATTTTCAGTTTTCTATTACACAAATAATTTGGCCACCTTGAATAGAAATCAAATTTCTTGTGGCTTAGTAAATATGTTAAGTTTTGAGTTTACAGAAAGTTGGTAAGGTGCACACAGAAAGGGCTACTACAGCTTCTATTTTGTTTAAAATAATTTTCAACAGTGAAGAAATTCACAGGACTTGTGTTAAACTCTATGGCACACATTAGGGATGTGTAGTTTTACAAACATGGATGTCTGACATACAGTTCTAAATCACAAAAATCAGTAGCTGAGCTTTCCTGTACCATCAGGAAAGATTAACCAATTGGTGACAGATGGGAATGTGAAAATGGGTGTCTAGCCATTTTTGCCATATTAGAGATTTAGTTTTTGGGTAAAGTTTAGTGAGAGGAATTACTTTGTCTGATTAAAAGTCTCTCAGCTGTGTTACAGCTGGTTATCTGGAATCACAACTTTTAAGAAGTTATACAAACTACTTCAAAAGGTCCTGAAAGACAAATAGTTTACCAGCTTTCTTGCCATATAGCCATTGCAAAAATAGGGCGTTAGGTACAGACAGGGCCTCTTGGTAGTTATTTTTTAAATTAGTCTTTTGCAACCATCATCCACAGTTTACCCAGCAGGTCACTGGACTAGGTGCTCTATACCAGTTAGGACTGTTAATTTGCACAACCTATATAATTCTCCACTGAAGCAGATATATACAAAATATGAGCTTTTTTTTTTTTTTTTTTGACAAGAATACTGGAGATTTGAGTCAATTTTTGTGGTCTTCTGATAGCTAAGTGCCATCAGGTTAGAAGCACCAACCCATTTTCACACAGATGATTGATTAATGTTTAGAGTTTATTTGGGAAAGCTACGAACTAGCTGCCCATCTTAAACAGCTGTACAATAACTTGAATAAAAAATTATGTAAGAAAAAATGAGCAAGCGTAGTTCACTAAATATAAAGGAAATTGTTAAAACCAGACAGTAATAGCTATAAAAGGCACAACTTCCCTTTTCTGATATACACTTGTAAACTTTTTTTCAGGTTTCCATGCATAAATCAAAAATGCTATCCTAACTATACAGGGGGGGGATACACCAACAGAAAGTCTAGAAAATTTCATCCAGCCAACTGTGAAAAAAAGTATGAAGAGAAAGTTCATCACACAGACTTTGGGCACTGGTGGTTTAGGTGCCATCCTTCTTTGACTGTGGAGATTACGTCCACATATTAAGGTTTCTAATTTCTGGGATATATTAACTAATAAATTTCACCATCTACTCTCCCATCACTGAAAAGTGATGACGACTCAACTGCTTCTGTTGCCAAGTCTTGGCCCTCTATAAACCACATGTAGTGCGTATTTAAAACAAAACAACAGATGAAAACAATAAAAAATAAAACAACAAAACCTCTACAGGACAAACTGATAGTTTATACAATAAAAGCTATTAATTCGACTTTCTTTAAGGCAACCATTCTTATTAAGGCAGTCACTTTTGATGAAACAGAAGTTTTTTGATATTTCCATTTGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAACATCTCGGGGAATTCAATACTCATGGTCTTATCCAAAAATGTTTGGAAGCAATAGTTAAGGAGATTTTCAACCACCTGCAAGAGAAGATATGGTAATGATCAGGCTTCCAAATTGGTCAGTGGGAACATCTCATGTTTGTTGTCCTCTATTTTGAAAAAATTATCTGGCCTAGAATATACCAATCTCACTGGAATTCCCCAGATGAAAAATAAGCACTTCCGTACAAAACACATTTTATATTTCTTTGATTGTATGTAGAATTATATAGAATTATTTCATGAATCACTGTAGTACCATAATATATGAAGGGTGCATTATTCTAATTTAATGGATTAATCATACTTTTTAAAAACAGTATTACTAAATTCTGTAATAACATGGTGATTTTATATACACATGACTAGGTGAAAGGATATTTCATAATTGGCCTTAGGAAAAATGTCTACAAAACTGAAGTTCATAAGTTGAACTCAAGCTATCACCAACATCCACAAACTGGGGGCGGGGGTGGGGGCGCTGCTGGTATATAATTATATTCACTAATCAAAACATACTTTGTCCCAGAAAACTCTTATATTTGGCTTTATGTTTGACACTTACTTCATGCATAGAATCCAAGAGTTTTGTCAGTTGATAAAACCGCTGCCAGTTCTGGCTGGAGTTTCCTTCCCTCTTGACAATGGCTTTTCCTAGCTCTTTGATGTAGGTCATTCTAATTTCATCAAATAGCTCTTGGCTCTTCAGACCGTCCTTAGGAACTAAAAGGTTAAGATGAAGTCAGTTAAAGGATTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTGAGATAGATAGGGTCTCACTGTGTCATCCAGGCTGGAGTGCAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACTGTAGGCACAAGCCACCATGTCTGAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACACAAGCCACTGTGTCTGGCTAAATTTTTTTGTAGAGACAGGATCTCCCTATGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCGGCCTCCCAAAGTGCCAGGATTACAGGTGTGAGCCACCATTCCCAGCCAGATTTCTTGCTATAACTTTTTATACATGCAAGATGGGCATTTAACATTGTTTATGTACTCTTACTGCACTCTAAAATATAAGCATTTTCTTAGGATTATTAATTAAACTACAGCCAAGAGAAAATGCAGGATAACAAAGAATTGGAGGACTTAACCTTGAGTAAATCACTTGATTTCTCATCTATAAAATGGAAGTGGTGATGATACACCTTCTCCTCCTTAGCTCACAAAGCTATTTGGAGGACCAAATGAAATAATACAGTGATTTTTAGTTAACTTTGTCTGCCATTCTGCACTTGAGTTTAATTCTAGTACTGAGATAGATAGAAGGCTTCAACAACAGTGTTTATTCCAGCAATTATATCTTGGAATATCTGTGATATCACCAGTTAATTATAACTTTAAAATCGGCATGCAATACTTTTTTTAATGTAGCTAATAGATATGTCTTAGTAGGGAGCAAATATCTGTCCTTCCTTATGTACATGGATTCTGGTTAGTGAAACTAGTATAAAAGTTTTGGGGGGATACATTACTCTTCAGAAAATGGTACTAATAAGGACAAGGAACAGAGGGTTAATCATGGTTTCACTTAATCCTGTGGAGATTAGGACTTTTGTAGAGTGCTACATTTTTCACAGTGTGCTCCTGGGAACACTGATTCTGTGTTAACTATAGTTAGAGCGAGACAAAGGATTTGGTGGTCAAAGTTTGAGAAAAGCTAAATGTTTAATACATATTAGGCAGACTTCTGAATTTCAGTACTTCTTGGAGATATAACTGTGCACTCTCCAGAGAGGGGAAATGCATTATTTCCCAAACTGAAACTTCACTGCTGCTGACATTTTTAGAAGATGCTGGTATAGAGGAAAAGCTATGGATTTAGG
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GTTGGAATGAGAAGGGTGGTCAGAATGGGAGGCAGAGGATAACTTCCTCTGTAATCTCACTGGGTCAGAGCCTCAGCAACCTTCACTGCACACAGGACCAGTCTCCATCTCCCTCTTCCCCTAGAGCAAACTGTTTGGTTTCTGAGACCATCGCTGCCTGTATGAATGCATGTACAAACTATAAATCATATAGGTTATCCATCAGCATTTCTTTGACCCCTACAAAAAATATATAACATGTCATGATAAAACAATCTCATCTAAAAATCATTCTTATTTTACACTATACAAGCTATTTTACAATCATTTTAATAAATTGCATGTAAAGCTGCAGTAGCCCTTCCCTTCCCAGATTAGTGAATACCAATATGATATATATCTGAAACTATAACTAAATATAAAAATATATTAGAAGTTCCATATTTTTAATATTAGATTTTCAGTTTTCTATTACACAAATAATTTGGCCACCTTGAATAGAAATCAAATTTCTTGTGGCTTAGTAAATATGTTAAGTTTTGAGTTTACAGAAAGTTGGTAAGGTGCACACAGAAAGGGCTACTACAGCTTCTATTTTGTTTAAAATAATTTTCAACAGTGAAGAAATTCACAGGACTTGTGTTAAACTCTATGGCACACATTAGGGATGTGTAGTTTTACAAACATGGATGTCTGACATACAGTTCTAAATCACAAAAATCAGTAGCTGAGCTTTCCTGTACCATCAGGAAAGATTAACCAATTGGTGACAGATGGGAATGTGAAAATGGGTGTCTAGCCATTTTTGCCATATTAGAGATTTAGTTTTTGGGTAAAGTTTAGTGAGAGGAATTACTTTGTCTGATTAAAAGTCTCTCAGCTGTGTTACAGCTGGTTATCTGGAATCACAACTTTTAAGAAGTTATACAAACTACTTCAAAAGGTCCTGAAAGACAAATAGTTTACCAGCTTTCTTGCCATATAGCCATTGCAAAAATAGGGCGTTAGGTACAGACAGGGCCTCTTGGTAGTTATTTTTTAAATTAGTCTTTTGCAACCATCATCCACAGTTTACCCAGCAGGTCACTGGACTAGGTGCTCTATACCAGTTAGGACTGTTAATTTGCACAACCTATATAATTCTCCACTGAAGCAGATATATACAAAATATGAGCTTTTTTTTTTTTTTTTTTGACAAGAATACTGGAGATTTGAGTCAATTTTTGTGGTCTTCTGATAGCTAAGTGCCATCAGGTTAGAAGCACCAACCCATTTTCACACAGATGATTGATTAATGTTTAGAGTTTATTTGGGAAAGCTACGAACTAGCTGCCCATCTTAAACAGCTGTACAATAACTTGAATAAAAAATTATGTAAGAAAAAATGAGCAAGCGTAGTTCACTAAATATAAAGGAAATTGTTAAAACCAGACAGTAATAGCTATAAAAGGCACAACTTCCCTTTTCTGATATACACTTGTAAACTTTTTTTCAGGTTTCCATGCATAAATCAAAAATGCTATCCTAACTATACAGGGGGGGGATACACCAACAGAAAGTCTAGAAAATTTCATCCAGCCAACTGTGAAAAAAAGTATGAAGAGAAAGTTCATCACACAGACTTTGGGCACTGGTGGTTTAGGTGCCATCCTTCTTTGACTGTGGAGATTACGTCCACATATTAAGGTTTCTAATTTCTGGGATATATTAACTAATAAATTTCACCATCTACTCTCCCATCACTGAAAAGTGATGACGACTCAACTGCTTCTGTTGCCAAGTCTTGGCCCTCTATAAACCACATGTAGTGCGTATTTAAAACAAAACAACAGATGAAAACAATAAAAAATAAAACAACAAAACCTCTACAGGACAAACTGATAGTTTATACAATAAAAGCTATTAATTCGACTTTCTTTAAGGCAACCATTCTTATTAAGGCAGTCACTTTTGATGAAACAGAAGTTTTTTGATATTTCCATTTGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAACATCTCGGGGAATTCAATACTCATGGTCTTATCCAAAAATGTTTGGAGGCAATAGTTAAGGAGATTTTCAACCACCTGCAAGAGAAGATATGGTAATGATCAGGCTTCCAAATTGGTCAGTGGGAACATCTCATGTTTGTTGTCCTCTATTTTGAAAAAATTATCTGGCCTAGAATATACCAATCTCACTGGAATTCCCCAGATGAAAAATAAGCACTTCCGTACAAAACACATTTTATATTTCTTTGATTGTATGTAGAATTATATAGAATTATTTCATGAATCACTGTAGTACCATAATATATGAAGGGTGCATTATTCTAATTTAATGGATTAATCATACTTTTTAAAAACAGTATTACTAAATTCTGTAATAACATGGTGATTTTATATACACATGACTAGGTGAAAGGATATTTCATAATTGGCCTTAGGAAAAATGTCTACAAAACTGAAGTTCATAAGTTGAACTCAAGCTATCACCAACATCCACAAACTGGGGGCGGGGGTGGGGGCGCTGCTGGTATATAATTATATTCACTAATCAAAACATACTTTGTCCCAGAAAACTCTTATATTTGGCTTTATGTTTGACACTTACTTCATGCATAGAATCCAAGAGTTTTGTCAGTTGATAAAACCGCTGCCAGTTCTGGCTGGAGTTTCCTTCCCTCTTGACAATGGCTTTTCCTAGCTCTTTGATGTAGGTCATTCTAATTTCATCAAATAGCTCTTGGCTCTTCAGACCGTCCTTAGGAACTAAAAGGTTAAGATGAAGTCAGTTAAAGGATTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTGAGATAGATAGGGTCTCACTGTGTCATCCAGGCTGGAGTGCAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACTGTAGGCACAAGCCACCATGTCTGAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACACAAGCCACTGTGTCTGGCTAAATTTTTTTGTAGAGACAGGATCTCCCTATGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCGGCCTCCCAAAGTGCCAGGATTACAGGTGTGAGCCACCATTCCCAGCCAGATTTCTTGCTATAACTTTTTATACATGCAAGATGGGCATTTAACATTGTTTATGTACTCTTACTGCACTCTAAAATATAAGCATTTTCTTAGGATTATTAATTAAACTACAGCCAAGAGAAAATGCAGGATAACAAAGAATTGGAGGACTTAACCTTGAGTAAATCACTTGATTTCTCATCTATAAAATGGAAGTGGTGATGATACACCTTCTCCTCCTTAGCTCACAAAGCTATTTGGAGGACCAAATGAAATAATACAGTGATTTTTAGTTAACTTTGTCTGCCATTCTGCACTTGAGTTTAATTCTAGTACTGAGATAGATAGAAGGCTTCAACAACAGTGTTTATTCCAGCAATTATATCTTGGAATATCTGTGATATCACCAGTTAATTATAACTTTAAAATCGGCATGCAATACTTTTTTTAATGTAGCTAATAGATATGTCTTAGTAGGGAGCAAATATCTGTCCTTCCTTATGTACATGGATTCTGGTTAGTGAAACTAGTATAAAAGTTTTGGGGGGATACATTACTCTTCAGAAAATGGTACTAATAAGGACAAGGAACAGAGGGTTAATCATGGTTTCACTTAATCCTGTGGAGATTAGGACTTTTGTAGAGTGCTACATTTTTCACAGTGTGCTCCTGGGAACACTGATTCTGTGTTAACTATAGTTAGAGCGAGACAAAGGATTTGGTGGTCAAAGTTTGAGAAAAGCTAAATGTTTAATACATATTAGGCAGACTTCTGAATTTCAGTACTTCTTGGAGATATAACTGTGCACTCTCCAGAGAGGGGAAATGCATTATTTCCCAAACTGAAACTTCACTGCTGCTGACATTTTTAGAAGATGCTGGTATAGAGGAAAAGCTATGGATTTAGG
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Task1_train_9593
|
A genetic alteration is present in NR3C1 (nuclear receptor subfamily 3 group C member 1) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Glucocorticoid resistance
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CAGTAGCTGAGCTTTCCTGTACCATCAGGAAAGATTAACCAATTGGTGACAGATGGGAATGTGAAAATGGGTGTCTAGCCATTTTTGCCATATTAGAGATTTAGTTTTTGGGTAAAGTTTAGTGAGAGGAATTACTTTGTCTGATTAAAAGTCTCTCAGCTGTGTTACAGCTGGTTATCTGGAATCACAACTTTTAAGAAGTTATACAAACTACTTCAAAAGGTCCTGAAAGACAAATAGTTTACCAGCTTTCTTGCCATATAGCCATTGCAAAAATAGGGCGTTAGGTACAGACAGGGCCTCTTGGTAGTTATTTTTTAAATTAGTCTTTTGCAACCATCATCCACAGTTTACCCAGCAGGTCACTGGACTAGGTGCTCTATACCAGTTAGGACTGTTAATTTGCACAACCTATATAATTCTCCACTGAAGCAGATATATACAAAATATGAGCTTTTTTTTTTTTTTTTTTGACAAGAATACTGGAGATTTGAGTCAATTTTTGTGGTCTTCTGATAGCTAAGTGCCATCAGGTTAGAAGCACCAACCCATTTTCACACAGATGATTGATTAATGTTTAGAGTTTATTTGGGAAAGCTACGAACTAGCTGCCCATCTTAAACAGCTGTACAATAACTTGAATAAAAAATTATGTAAGAAAAAATGAGCAAGCGTAGTTCACTAAATATAAAGGAAATTGTTAAAACCAGACAGTAATAGCTATAAAAGGCACAACTTCCCTTTTCTGATATACACTTGTAAACTTTTTTTCAGGTTTCCATGCATAAATCAAAAATGCTATCCTAACTATACAGGGGGGGGATACACCAACAGAAAGTCTAGAAAATTTCATCCAGCCAACTGTGAAAAAAAGTATGAAGAGAAAGTTCATCACACAGACTTTGGGCACTGGTGGTTTAGGTGCCATCCTTCTTTGACTGTGGAGATTACGTCCACATATTAAGGTTTCTAATTTCTGGGATATATTAACTAATAAATTTCACCATCTACTCTCCCATCACTGAAAAGTGATGACGACTCAACTGCTTCTGTTGCCAAGTCTTGGCCCTCTATAAACCACATGTAGTGCGTATTTAAAACAAAACAACAGATGAAAACAATAAAAAATAAAACAACAAAACCTCTACAGGACAAACTGATAGTTTATACAATAAAAGCTATTAATTCGACTTTCTTTAAGGCAACCATTCTTATTAAGGCAGTCACTTTTGATGAAACAGAAGTTTTTTGATATTTCCATTTGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAACATCTCGGGGAATTCAATACTCATGGTCTTATCCAAAAATGTTTGGAAGCAATAGTTAAGGAGATTTTCAACCACCTGCAAGAGAAGATATGGTAATGATCAGGCTTCCAAATTGGTCAGTGGGAACATCTCATGTTTGTTGTCCTCTATTTTGAAAAAATTATCTGGCCTAGAATATACCAATCTCACTGGAATTCCCCAGATGAAAAATAAGCACTTCCGTACAAAACACATTTTATATTTCTTTGATTGTATGTAGAATTATATAGAATTATTTCATGAATCACTGTAGTACCATAATATATGAAGGGTGCATTATTCTAATTTAATGGATTAATCATACTTTTTAAAAACAGTATTACTAAATTCTGTAATAACATGGTGATTTTATATACACATGACTAGGTGAAAGGATATTTCATAATTGGCCTTAGGAAAAATGTCTACAAAACTGAAGTTCATAAGTTGAACTCAAGCTATCACCAACATCCACAAACTGGGGGCGGGGGTGGGGGCGCTGCTGGTATATAATTATATTCACTAATCAAAACATACTTTGTCCCAGAAAACTCTTATATTTGGCTTTATGTTTGACACTTACTTCATGCATAGAATCCAAGAGTTTTGTCAGTTGATAAAACCGCTGCCAGTTCTGGCTGGAGTTTCCTTCCCTCTTGACAATGGCTTTTCCTAGCTCTTTGATGTAGGTCATTCTAATTTCATCAAATAGCTCTTGGCTCTTCAGACCGTCCTTAGGAACTAAAAGGTTAAGATGAAGTCAGTTAAAGGATTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTGAGATAGATAGGGTCTCACTGTGTCATCCAGGCTGGAGTGCAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACTGTAGGCACAAGCCACCATGTCTGAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACACAAGCCACTGTGTCTGGCTAAATTTTTTTGTAGAGACAGGATCTCCCTATGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCGGCCTCCCAAAGTGCCAGGATTACAGGTGTGAGCCACCATTCCCAGCCAGATTTCTTGCTATAACTTTTTATACATGCAAGATGGGCATTTAACATTGTTTATGTACTCTTACTGCACTCTAAAATATAAGCATTTTCTTAGGATTATTAATTAAACTACAGCCAAGAGAAAATGCAGGATAACAAAGAATTGGAGGACTTAACCTTGAGTAAATCACTTGATTTCTCATCTATAAAATGGAAGTGGTGATGATACACCTTCTCCTCCTTAGCTCACAAAGCTATTTGGAGGACCAAATGAAATAATACAGTGATTTTTAGTTAACTTTGTCTGCCATTCTGCACTTGAGTTTAATTCTAGTACTGAGATAGATAGAAGGCTTCAACAACAGTGTTTATTCCAGCAATTATATCTTGGAATATCTGTGATATCACCAGTTAATTATAACTTTAAAATCGGCATGCAATACTTTTTTTAATGTAGCTAATAGATATGTCTTAGTAGGGAGCAAATATCTGTCCTTCCTTATGTACATGGATTCTGGTTAGTGAAACTAGTATAAAAGTTTTGGGGGGATACATTACTCTTCAGAAAATGGTACTAATAAGGACAAGGAACAGAGGGTTAATCATGGTTTCACTTAATCCTGTGGAGATTAGGACTTTTGTAGAGTGCTACATTTTTCACAGTGTGCTCCTGGGAACACTGATTCTGTGTTAACTATAGTTAGAGCGAGACAAAGGATTTGGTGGTCAAAGTTTGAGAAAAGCTAAATGTTTAATACATATTAGGCAGACTTCTGAATTTCAGTACTTCTTGGAGATATAACTGTGCACTCTCCAGAGAGGGGAAATGCATTATTTCCCAAACTGAAACTTCACTGCTGCTGACATTTTTAGAAGATGCTGGTATAGAGGAAAAGCTATGGATTTAGGAGCTTCTAGAAGTCTTATTATTATTATTTTTTTCCCGAGACAGAGTCTTGCTGTGTTGCCTAGGCTGGAGTGCATTGGCATGATCTCAGCTCACTGCCACTTCCGCCTCCCAGGTTCAAGCAATTCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTTCAGGCAGTAAGTCACCATGCCCAGCCGAGTAGTCTTATTTCTTACTTGCCATGTGGACTTGAATATAACCTCCTTGAGCATCTTTCCTGCTCTTTTTCATTGGATTATGATTAGAATTAGACTAATGAATATGTATGAAAATGTTTGATTCCATAAAGCATTACAAGACATCAGTATTAACATGAAAATGAAGACCGCTTAATCAGGAGTGATAACGGCATTCTATATTAACAATGGGTTAATTTTACACATTACTATACTACAGAAAATCTAATTATTGCAAAATTGTAAAACAGCGATGGCTTATAGTTTTTTTCCCTGCCGTATAGTTTTTTTCCCTGCCGGTTAGTCCTAATTCTAAAAATAACTATGGTGAAGCCCAATTCAATATGCATATAAAAGAATTTCATCCATCTTAAATTTTTTTTTAATGTTTTAATATTGAAATCACTAACATTACTTCCTCTTTTGGCTGCAGGAAGTAAGTACAGCCTGGAATTCCCCTCCTACTGGAAAACTGGACAACAAGCAATACATGATT
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CAGTAGCTGAGCTTTCCTGTACCATCAGGAAAGATTAACCAATTGGTGACAGATGGGAATGTGAAAATGGGTGTCTAGCCATTTTTGCCATATTAGAGATTTAGTTTTTGGGTAAAGTTTAGTGAGAGGAATTACTTTGTCTGATTAAAAGTCTCTCAGCTGTGTTACAGCTGGTTATCTGGAATCACAACTTTTAAGAAGTTATACAAACTACTTCAAAAGGTCCTGAAAGACAAATAGTTTACCAGCTTTCTTGCCATATAGCCATTGCAAAAATAGGGCGTTAGGTACAGACAGGGCCTCTTGGTAGTTATTTTTTAAATTAGTCTTTTGCAACCATCATCCACAGTTTACCCAGCAGGTCACTGGACTAGGTGCTCTATACCAGTTAGGACTGTTAATTTGCACAACCTATATAATTCTCCACTGAAGCAGATATATACAAAATATGAGCTTTTTTTTTTTTTTTTTTGACAAGAATACTGGAGATTTGAGTCAATTTTTGTGGTCTTCTGATAGCTAAGTGCCATCAGGTTAGAAGCACCAACCCATTTTCACACAGATGATTGATTAATGTTTAGAGTTTATTTGGGAAAGCTACGAACTAGCTGCCCATCTTAAACAGCTGTACAATAACTTGAATAAAAAATTATGTAAGAAAAAATGAGCAAGCGTAGTTCACTAAATATAAAGGAAATTGTTAAAACCAGACAGTAATAGCTATAAAAGGCACAACTTCCCTTTTCTGATATACACTTGTAAACTTTTTTTCAGGTTTCCATGCATAAATCAAAAATGCTATCCTAACTATACAGGGGGGGGATACACCAACAGAAAGTCTAGAAAATTTCATCCAGCCAACTGTGAAAAAAAGTATGAAGAGAAAGTTCATCACACAGACTTTGGGCACTGGTGGTTTAGGTGCCATCCTTCTTTGACTGTGGAGATTACGTCCACATATTAAGGTTTCTAATTTCTGGGATATATTAACTAATAAATTTCACCATCTACTCTCCCATCACTGAAAAGTGATGACGACTCAACTGCTTCTGTTGCCAAGTCTTGGCCCTCTATAAACCACATGTAGTGCGTATTTAAAACAAAACAACAGATGAAAACAATAAAAAATAAAACAACAAAACCTCTACAGGACAAACTGATAGTTTATACAATAAAAGCTATTAATTCGACTTTCTTTAAGGCAACCATTCTTATTAAGGCAGTCACTTTTGATGAAACAGAAGTTTTTTGATATTTCCATTTGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAACATCTCGGGGAATTCAATACTCATGGTCTTATCCAAAAATGTTTGGAAGCAATAGTTAAGGAGATTTTCAACCACCTGCAAGAGAAGATATGGTAATGATCAGGCTTCCAAATTGGTCAGTGGGAACATCTCATGTTTGTTGTCCTCTATTTTGAAAAAATTATCTGGCCTAGAATATACCAATCTCACTGGAATTCCCCAGATGAAAAATAAGCACTTCCGTACAAAACACATTTTATATTTCTTTGATTGTATGTAGAATTATATAGAATTATTTCATGAATCACTGTAGTACCATAATATATGAAGGGTGCATTATTCTAATTTAATGGATTAATCATACTTTTTAAAAACAGTATTACTAAATTCTGTAATAACATGGTGATTTTATATACACATGACTAGGTGAAAGGATATTTCATAATTGGCCTTAGGAAAAATGTCTACAAAACTGAAGTTCATAAGTTGAACTCAAGCTATCACCAACATCCACAAACTGGGGGCGGGGGTGGGGGCGCTGCTGGTATATAATTATATTCACTAATCAAAACATACTTTGTCCCAGAAAACTCTTATATTTGGCTTTATGTTTGACACTTACTTCATGCATAGAATCCAAGAGTTTTGTCAGTTGATAAAACCGCTGCCAGTTCTGGCTGGAGTTTCCTTCCCTCTTGACAATGGCTTTTCCTAGCTCTTTGATGTAGGTCATTCTAATTTCATCAAATAGCTCTTGGCTCTTCAGACTGTCCTTAGGAACTAAAAGGTTAAGATGAAGTCAGTTAAAGGATTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTGAGATAGATAGGGTCTCACTGTGTCATCCAGGCTGGAGTGCAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACTGTAGGCACAAGCCACCATGTCTGAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACACAAGCCACTGTGTCTGGCTAAATTTTTTTGTAGAGACAGGATCTCCCTATGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCGGCCTCCCAAAGTGCCAGGATTACAGGTGTGAGCCACCATTCCCAGCCAGATTTCTTGCTATAACTTTTTATACATGCAAGATGGGCATTTAACATTGTTTATGTACTCTTACTGCACTCTAAAATATAAGCATTTTCTTAGGATTATTAATTAAACTACAGCCAAGAGAAAATGCAGGATAACAAAGAATTGGAGGACTTAACCTTGAGTAAATCACTTGATTTCTCATCTATAAAATGGAAGTGGTGATGATACACCTTCTCCTCCTTAGCTCACAAAGCTATTTGGAGGACCAAATGAAATAATACAGTGATTTTTAGTTAACTTTGTCTGCCATTCTGCACTTGAGTTTAATTCTAGTACTGAGATAGATAGAAGGCTTCAACAACAGTGTTTATTCCAGCAATTATATCTTGGAATATCTGTGATATCACCAGTTAATTATAACTTTAAAATCGGCATGCAATACTTTTTTTAATGTAGCTAATAGATATGTCTTAGTAGGGAGCAAATATCTGTCCTTCCTTATGTACATGGATTCTGGTTAGTGAAACTAGTATAAAAGTTTTGGGGGGATACATTACTCTTCAGAAAATGGTACTAATAAGGACAAGGAACAGAGGGTTAATCATGGTTTCACTTAATCCTGTGGAGATTAGGACTTTTGTAGAGTGCTACATTTTTCACAGTGTGCTCCTGGGAACACTGATTCTGTGTTAACTATAGTTAGAGCGAGACAAAGGATTTGGTGGTCAAAGTTTGAGAAAAGCTAAATGTTTAATACATATTAGGCAGACTTCTGAATTTCAGTACTTCTTGGAGATATAACTGTGCACTCTCCAGAGAGGGGAAATGCATTATTTCCCAAACTGAAACTTCACTGCTGCTGACATTTTTAGAAGATGCTGGTATAGAGGAAAAGCTATGGATTTAGGAGCTTCTAGAAGTCTTATTATTATTATTTTTTTCCCGAGACAGAGTCTTGCTGTGTTGCCTAGGCTGGAGTGCATTGGCATGATCTCAGCTCACTGCCACTTCCGCCTCCCAGGTTCAAGCAATTCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTTCAGGCAGTAAGTCACCATGCCCAGCCGAGTAGTCTTATTTCTTACTTGCCATGTGGACTTGAATATAACCTCCTTGAGCATCTTTCCTGCTCTTTTTCATTGGATTATGATTAGAATTAGACTAATGAATATGTATGAAAATGTTTGATTCCATAAAGCATTACAAGACATCAGTATTAACATGAAAATGAAGACCGCTTAATCAGGAGTGATAACGGCATTCTATATTAACAATGGGTTAATTTTACACATTACTATACTACAGAAAATCTAATTATTGCAAAATTGTAAAACAGCGATGGCTTATAGTTTTTTTCCCTGCCGTATAGTTTTTTTCCCTGCCGGTTAGTCCTAATTCTAAAAATAACTATGGTGAAGCCCAATTCAATATGCATATAAAAGAATTTCATCCATCTTAAATTTTTTTTTAATGTTTTAATATTGAAATCACTAACATTACTTCCTCTTTTGGCTGCAGGAAGTAAGTACAGCCTGGAATTCCCCTCCTACTGGAAAACTGGACAACAAGCAATACATGATT
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Task1_train_9594
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Gene NR3C1 (nuclear receptor subfamily 3 group C member 1) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Glucocorticoid resistance
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CCTATTGAAATCATTTTAAAAAAGATTATAAACTTAAAAAAACCCCAACTTACTAAACTTACTAATTTACCAGGTTCTACAAATGCCGTCAAAGAGCAAGTTGGCTTGAGTTCCACTTATCTCTGTAGGTTCCTGCCTTCACTTAGTTCTTAATTTTTTTAGTCTAGCATTTTTGGTGGGAGGTTATATACCTATTCCAGTAGTCTATCATAGTAGAAGTCTATATCTTAAGGTATATATTTCCATCCTTATGATTCTATTATTTTTTAACAAGAAGAACTCGTGATATTATTTACAATGAAAAAAATCATATAGCTCAATTAGTCTGGGATGTATACAATTGAAACCATTCTTTTTTTTTTTTTTTTAAACAAGTAAAGTTGTTAGTATCCAGGCACTGAATTATACCTTCATGGTATCAATCAAAGCTATGATCAGAATTTTATGTAACTGCTTAATCACTTCTTTAACAAGTGTACCGCTACAGGTAACATTAAACGTCTCTAGCAATGATCTTTATCGGGTTCTCTTGCCTTGACTGAAATATTATTAATACTTCTTATATCCATTAACATAAAATAACTTTTTGTTGAGCAAAAATAGTGTGAAAACATTAAGATGAATGTGCGCTTTGGAAATGTTTAAATAGATATGAAATGATTAAATAAAATCACAGTCTTGTGCAACATCCATAGCTTACAGTTATTTGGCAACTATGAAACCACAGTTACTAATGGAATTAAGACTTTTTAAAAAATTGCAAATGTACTTATTTGTATATGAAAGAGGTATTCAGCTATTAACTCAGTATTTAATAAACATTGATATGTAATTTTTACTTGAAATGGCCTAAGGTTTATAATACCAACTAGTTCATAGAGCTTTTTTTAAAAAAGACTTTTTTTAGAGCAGTTTTAAGTTCACAGCAAAATTGGGAGGAAGGTACAGAGATTTTTCATATACCTCCTGTCCCACACATCATCACCCAAAGTCCATAGTTGAGGGTTCACTCTTGGTGGTGGACATTCTTTGGGTTTGGATAAATGTATAATGACATGTTTCCACCATTGTAGTATCATACGAAGTATTTTCACTGCCCTAAAAATCCTCTGTGCTCTGCACATTTATCCCTCCCTTCCTTCTAAACCCTGGCAACCGCTGATTTTTTTTTGCTGTCTTCACAGTTTTGCCTTTTATGGAATGTTATATAGTTAGAATCACACAGTATGTAGCCCTTTCAGATTAGCTTTTTTCACTTAGTAATATGCATTTAACGTCCCTCCATGTGTTTTCATGGCTTGACAGCTTATTTCTTTTTAGTCCTCAATAGTATTCCATCATCTGGATGTATCATAGTTTATCACTTCACCTACTGAAGGACATCTTTGTCTTTGCTAGCTAAAAAGTAATCTCACAGAAGTTCGTTTTATAAACTCTTGTTGCCATTTTCTAGATAATGAATCTCTGACAATCCAGCTCCCATGCTATGTTAACCAATCCCCAATAGTAATTAAGCACACCTTTTCTAGGATGCGCCTTTTTCTCCCATAATTTCTCATACATGCTAATACTCATTAGGAAACTAAAATTTTTAACCAAATAACAGTGTAGTGGACAAAATCACTGTAGTTAGCTTTCTTTTTCCATGTCTTCCCATGATCAAAGATCAAAGGAAGGAAGGAGAAAAAAGTCTACACAGATTCTTATCAACAGAGATCCCTATGCAGCTCATATACCTCTCTGTTTCTGCCATACCTATTTGTCTTATTAATCTTGGTGTCACTTACTGTGCCTTTCTAATATTTTACATTCATAAAAATCATCTGACTAGTAGGAAATAATAGTAGACTTGGTATAATTATTAGTACTATGTATATAAATTAACCTTTGTTTCTAGGCCTTCATATTTCATGCTTTTGACATAAGGTGAAAAGGTGTTCTACCAACCTGAAGAGAGAAGCAGTAAGGTTTTCATACAGAGATACTCTTCATAAGATACCTGAAGCCTGTGTAACTCAGAGGAAACATACAGCATGTGTTTACATTGGTCGTACATGCAGGGTAGAGTCATTCTCTGCCTGTGAAAGATAAATAGCAGGGTATTAGTTAGAAATACTGCTACTTCCCCCCAAAAAGCACATTTTTGTTTTGTTTTGCAAAACTATGAACTCATAAAGAAAAACAACTACTGCAATAATATTATTGCTAATTCCCTATAAAATCAGAATTTTGGAGAACTTTCCTTAAACTTCCTGCATCTTGGCTGTTTAAATAGACTAATGAATAATCTAATGTAACAGTGGAGATATTATTTTCTATCATGCATGCCATGTATTATTTTATTATTTAATTAAAGTGTTAGAATTCTTATAGAACTTATTACTAGTTGCTCATTTAAATCAAGGTTTATCATTTGAATACGGTCAATTAGACGACAGTTTTAGGTCCTACACACTTGATTTTTAAAGGTAAATTTTTTCACAGCAGTCCATCCTAAAGACAAAAATGTGTGACACTGTTCACAGTTATGCAGAGGGCGAGACCTAGAACTTGATTCTAGACTTCTGATGCTCAAAATCTGCCTCTGACAGGCATATGCCTTAATATTCTTTAAACTAAAGGTACTAAACCAATTCTTGCTTATGATTCTGAAGTCATTACATACCTATGATTTTCAAATAGGTCTCTAAAGTTTCCTGACTTGTGAAATGACACTAAGAGCCTGAAACTGGGCCCAGTTCACAGCTTTTAAAATGCTTCAAGATTTTTTTTTTTTTTTAAGTTTCTGACAGAAAGTCGTCTTGGACTTAACAACAGAAAGGTTATTATTTTTCTCTACTGAATATGTGGTTTATTCCTTTATATAAAATAAATTAGACATGACTTATATGCTGCCAAAGTGATCAGAGGCTCTTCAAATTTAAAATCTGCTCTTACCGAAGAGGCACCTCCCTAGTCCTTAATAGTAGGTAAAGCACTCCTTTTCTGGGAGGCACCTTTTTTTCCTTTAGTTTCTTGTACATGGTTATACTCATATAACTGAAAATTTCAACAAAGTTATAGTGTAGTAGAATAAGTAAAAACTCATTCTTGTTGGCTGTAAAAACAACAACAATTTTTTTTTCCCCCACAACGTTCTGACCTAAGGGCAACCATGAGAGACTGTTTGACAGCTCTATAGAGGGTCAGAACTTGAATGCATACTTTCTGATATGCAATATCTGCCTGTCACAGACACCAGAGCAGTATGGAAACATAGTGGGCTAAGAAAAAAGGGTGGAGGGCTGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAAGTGTGGTGGAGTGCGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGAGAATCACTTGAACCCTGGAGGCAGAGGTTGCCATGAGCCAAGATCACACCACTGCACTTGAGCCTGGGTGACAGAGTAAGACTCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGGTGGAGGACTGCCCATCTTTTAGGCAGCAGCATGAGAACACAAGAATAGGAAGTACATATCCCTTAATGAAAATGAAACTAATGTAAATCTGTTGAGGAAAAAAAATTATAAATCCCACTTTATGTAAGGAATGTATGTGGCATGATTAGATTTTGCTGTGACTGCTTAAAGCTAAATCTGAATGCCCTAATAATAAAAACCCTAAATTAGGTTAGTTTTATAAACCAGGATAAGTTGGTGTTTCATACAAATCTGTTTATGCTTTTAATTCCACTTAAATGCCTTCAAATTACATATTAGAAAGTGACTAAAAAACAAATACTGCCAACATGGTATTTTTTAAACAGCATGGTAGGATTATGATGAGTAATAATGTCTTCAGTTTCCCCAGAAACTAAATATATTTACCAGTTAATTTAAAATTGGATCCAACTACCTAATCTTGTTACATTGTGATGCAGTAGTTTGAACAGTCCTCTTTTTGGCAATAAAAGTCAAG
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CCTATTGAAATCATTTTAAAAAAGATTATAAACTTAAAAAAACCCCAACTTACTAAACTTACTAATTTACCAGGTTCTACAAATGCCGTCAAAGAGCAAGTTGGCTTGAGTTCCACTTATCTCTGTAGGTTCCTGCCTTCACTTAGTTCTTAATTTTTTTAGTCTAGCATTTTTGGTGGGAGGTTATATACCTATTCCAGTAGTCTATCATAGTAGAAGTCTATATCTTAAGGTATATATTTCCATCCTTATGATTCTATTATTTTTTAACAAGAAGAACTCGTGATATTATTTACAATGAAAAAAATCATATAGCTCAATTAGTCTGGGATGTATACAATTGAAACCATTCTTTTTTTTTTTTTTTTAAACAAGTAAAGTTGTTAGTATCCAGGCACTGAATTATACCTTCATGGTATCAATCAAAGCTATGATCAGAATTTTATGTAACTGCTTAATCACTTCTTTAACAAGTGTACCGCTACAGGTAACATTAAACGTCTCTAGCAATGATCTTTATCGGGTTCTCTTGCCTTGACTGAAATATTATTAATACTTCTTATATCCATTAACATAAAATAACTTTTTGTTGAGCAAAAATAGTGTGAAAACATTAAGATGAATGTGCGCTTTGGAAATGTTTAAATAGATATGAAATGATTAAATAAAATCACAGTCTTGTGCAACATCCATAGCTTACAGTTATTTGGCAACTATGAAACCACAGTTACTAATGGAATTAAGACTTTTTAAAAAATTGCAAATGTACTTATTTGTATATGAAAGAGGTATTCAGCTATTAACTCAGTATTTAATAAACATTGATATGTAATTTTTACTTGAAATGGCCTAAGGTTTATAATACCAACTAGTTCATAGAGCTTTTTTTAAAAAAGACTTTTTTTAGAGCAGTTTTAAGTTCACAGCAAAATTGGGAGGAAGGTACAGAGATTTTTCATATACCTCCTGTCCCACACATCATCACCCAAAGTCCATAGTTGAGGGTTCACTCTTGGTGGTGGACATTCTTTGGGTTTGGATAAATGTATAATGACATGTTTCCACCATTGTAGTATCATACGAAGTATTTTCACTGCCCTAAAAATCCTCTGTGCTCTGCACATTTATCCCTCCCTTCCTTCTAAACCCTGGCAACCGCTGATTTTTTTTTGCTGTCTTCACAGTTTTGCCTTTTATGGAATGTTATATAGTTAGAATCACACAGTATGTAGCCCTTTCAGATTAGCTTTTTTCACTTAGTAATATGCATTTAACGTCCCTCCATGTGTTTTCATGGCTTGACAGCTTATTTCTTTTTAGTCCTCAATAGTATTCCATCATCTGGATGTATCATAGTTTATCACTTCACCTACTGAAGGACATCTTTGTCTTTGCTAGCTAAAAAGTAATCTCACAGAAGTTCGTTTTATAAACTCTTGTTGCCATTTTCTAGATAATGAATCTCTGACAATCCAGCTCCCATGCTATGTTAACCAATCCCCAATAGTAATTAAGCACACCTTTTCTAGGATGCGCCTTTTTCTCCCATAATTTCTCATACATGCTAATACTCATTAGGAAACTAAAATTTTTAACCAAATAACAGTGTAGTGGACAAAATCACTGTAGTTAGCTTTCTTTTTCCATGTCTTCCCATGATCAAAGATCAAAGGAAGGAAGGAGAAAAAAGTCTACACAGATTCTTATCAACAGAGATCCCTATGCAGCTCATATACCTCTCTGTTTCTGCCATACCTATTTGTCTTATTAATCTTGGTGTCACTTACTGTGCCTTTCTAATATTTTACATTCATAAAAATCATCTGACTAGTAGGAAATAATAGTAGACTTGGTATAATTATTAGTACTATGTATATAAATTAACCTTTGTTTCTAGGCCTTCATATTTCATGCTTTTGACATAAGGTGAAAAGGTGTTCTACCAACCTGAAGAGAGAAGCAGTAAGGTTTTCATACAGAGATACTCTTCATAAGATACCTGAAGCCTGTGTAACTCAGAGGAAACATACAGCATGTGTTTACATTGGACGTACATGCAGGGTAGAGTCATTCTCTGCCTGTGAAAGATAAATAGCAGGGTATTAGTTAGAAATACTGCTACTTCCCCCCAAAAAGCACATTTTTGTTTTGTTTTGCAAAACTATGAACTCATAAAGAAAAACAACTACTGCAATAATATTATTGCTAATTCCCTATAAAATCAGAATTTTGGAGAACTTTCCTTAAACTTCCTGCATCTTGGCTGTTTAAATAGACTAATGAATAATCTAATGTAACAGTGGAGATATTATTTTCTATCATGCATGCCATGTATTATTTTATTATTTAATTAAAGTGTTAGAATTCTTATAGAACTTATTACTAGTTGCTCATTTAAATCAAGGTTTATCATTTGAATACGGTCAATTAGACGACAGTTTTAGGTCCTACACACTTGATTTTTAAAGGTAAATTTTTTCACAGCAGTCCATCCTAAAGACAAAAATGTGTGACACTGTTCACAGTTATGCAGAGGGCGAGACCTAGAACTTGATTCTAGACTTCTGATGCTCAAAATCTGCCTCTGACAGGCATATGCCTTAATATTCTTTAAACTAAAGGTACTAAACCAATTCTTGCTTATGATTCTGAAGTCATTACATACCTATGATTTTCAAATAGGTCTCTAAAGTTTCCTGACTTGTGAAATGACACTAAGAGCCTGAAACTGGGCCCAGTTCACAGCTTTTAAAATGCTTCAAGATTTTTTTTTTTTTTTAAGTTTCTGACAGAAAGTCGTCTTGGACTTAACAACAGAAAGGTTATTATTTTTCTCTACTGAATATGTGGTTTATTCCTTTATATAAAATAAATTAGACATGACTTATATGCTGCCAAAGTGATCAGAGGCTCTTCAAATTTAAAATCTGCTCTTACCGAAGAGGCACCTCCCTAGTCCTTAATAGTAGGTAAAGCACTCCTTTTCTGGGAGGCACCTTTTTTTCCTTTAGTTTCTTGTACATGGTTATACTCATATAACTGAAAATTTCAACAAAGTTATAGTGTAGTAGAATAAGTAAAAACTCATTCTTGTTGGCTGTAAAAACAACAACAATTTTTTTTTCCCCCACAACGTTCTGACCTAAGGGCAACCATGAGAGACTGTTTGACAGCTCTATAGAGGGTCAGAACTTGAATGCATACTTTCTGATATGCAATATCTGCCTGTCACAGACACCAGAGCAGTATGGAAACATAGTGGGCTAAGAAAAAAGGGTGGAGGGCTGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAAGTGTGGTGGAGTGCGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGAGAATCACTTGAACCCTGGAGGCAGAGGTTGCCATGAGCCAAGATCACACCACTGCACTTGAGCCTGGGTGACAGAGTAAGACTCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGGTGGAGGACTGCCCATCTTTTAGGCAGCAGCATGAGAACACAAGAATAGGAAGTACATATCCCTTAATGAAAATGAAACTAATGTAAATCTGTTGAGGAAAAAAAATTATAAATCCCACTTTATGTAAGGAATGTATGTGGCATGATTAGATTTTGCTGTGACTGCTTAAAGCTAAATCTGAATGCCCTAATAATAAAAACCCTAAATTAGGTTAGTTTTATAAACCAGGATAAGTTGGTGTTTCATACAAATCTGTTTATGCTTTTAATTCCACTTAAATGCCTTCAAATTACATATTAGAAAGTGACTAAAAAACAAATACTGCCAACATGGTATTTTTTAAACAGCATGGTAGGATTATGATGAGTAATAATGTCTTCAGTTTCCCCAGAAACTAAATATATTTACCAGTTAATTTAAAATTGGATCCAACTACCTAATCTTGTTACATTGTGATGCAGTAGTTTGAACAGTCCTCTTTTTGGCAATAAAAGTCAAG
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Task1_train_9595
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Here is a mutation in NR3C1 (nuclear receptor subfamily 3 group C member 1) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; GLUCOCORTICOID RESISTANCE, ATYPICAL
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GCCACATGTACATTTGCTTTACATTACACTTGTCCTGCCCCAAGCACTCATAACTCTATTTCCAGTTTGCCTAGATCCTAGATACCTAGTAGGATTGTTTCAGTCCTGAATTATCACAATAGCAGTCAATCAGGAAAACATCAGCTGGTTAAAGATACCCTATGAATACAGGGAAAATGACACACATACAACTTACTCATTAATAATCAGATCAGGAGCAAAACACAGCAGGTTTGCACTTGATTGTCTATATGATCTCCACCCCAGAGCAAATGCCATAAGAAACATCCAGGAGTACTGCAGTAGGGTCATTTGGTCATCCAGGTGTAAGTTCCTGAAACCTGAATTAAGAGAAATAAAGGTATGAGGCAACACTCTTCAGAAGATCATCTCTGTGGGAATTGCCAAGGAGCAATGAGATCAATTAGCCCTGTCAAAACAAGGGCACCCCTAACAGAAAATGGAAATTAAATACTAGGTAGACACAGTTTTCTTCTGTCATCTGACACTTTAAGACTCACAAACCCTCTTGTGTTTTTTTTTTTTTTTTTTTTTTTAATTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGTGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCAGTGCCAGCCTCCCAAGTAGCTAGGAATACAGATTCATACCACCATGCCCGGCTAATTTTTGTAATTTTAGTAGAGATGGGGTTTTGCTATGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCAACTGATCCACCCACCTGGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCACCCAGCCCCCTAGGTGCTTTTTAATAGCTTTTAATGTAAAAAAAAAAAAAAAAAGCCAGTTTTGTCACCTCTGTCTGCTTAAGTAAACATGAACTAAATAGTAAAATAGCCAAAATTCTTGGCTTGGCGGTTACCAGTGACCGGGAAAGATAGTGGTGATGGGGATGAAGCGGGAATGGTTGACGGGTGCAAAAATACAGTTAGAAGAAATAAGTTTTAGTGTTCAGTAGCACAACAGGATGACTATAGTTAACAATAATTTACTTTATATTTCAAAATAGCTAAAAGAGAAGATTTGGAATGTTCCCCAAACAAATGTTTGAGGTGATGGATATCCCAGTTACTCTGATTTGATCCTTACACGTTGTATGCTTTTATTAAATTATTACATGTACCCCCTAAATATAAATATGTACAGTAAATATGTACAACTATTATGTATTGATTTTAAAAAACAGAAAAGAATCTTGGCTTGAGGTATTAATCAATGAGTTAAGCAAAACATTTGCCCTGCTATTCACACCTCTTTCCCCCTTAATAAAACAAGGATGACAGGAGGTCAGGTTACTTTCTTGCTCTCTCCCTAACTATTTGCGTGAACACAGGCTTGTCAATTCCCTGTCTTTAAAGTCAGAGCTGACACTAACATTGACCTCTGCCATTCCACACCAAATTCCAATAGGGTAACTTTTATTTAAAATTATCTTTAAAATTACATTCAATGTGTAGCATTTCATTTAGTGAAGGGTTAAAATCATTCTACTTTAGTACAAATTTTGACAATCAACATACTTGATGTTTACCAATCTTACAAACAACCTGATTTTTAAAAGTGGCACAATGAAGGAAAACAAATGGAATTAACTAAAAACATTTTCTTTCCCCAAACTTCAGTGTAAAAGGAGTTTTGAGTGAGTCTTGTAACTTGAATTCTGATATTACATCATCCTATGTGAAATTACCATCCTGTGCATAATGATTTGAAAAGCAGGGAGTAATGTAAATGTTTTATTATAAACTCCCTATCACCTGTATTCACCTGACTCTCCCCTTCATAGTCCCCAGAACTAAGAGAAACAAGATAAGCCATGGGCTCACGATGATATAAAAGCCAAAGTGTTTTTGCTGAAGAAAACACAAAGGTTTATATAGTTGCTCTTTTATGTTTTGCATCTTACCTGGTATTGCCTTTGCCCATTTCACTGCTGCAATCACTTGCCGCCCTCCTAACATGTTGAGCGTAGTCATGATCCTCCAAGTTGAGTCTGGAACAGAGCTATCATATCCTGCATATAACACTTCAGGTTCAATAACCTCCAACAGTGACACCAGGGTAGGGGTGAGTTGTGGTAACGTTGCAGGAACTATTGTTTTGTTACCAGGATTTTCAGAGGTTTCTTGTGAGACTCCTGTAGTGGCCTGCTGAATTCCTTTTATTTTTTTCTTTGTTTTTCGAGCTGTGGGTATTTAAACAAATACATAGAAATGAACTGTAATGGGAAGGTCTGCGCTACACAGTTTATTCAAGAAGTATTTTTACTTTCTAAAACTATTAAGATGGGAGAAATATTTTATTTAGCAATTATGATAAAGTGACATGGAAAAGGAGAAAAAACTTTTTTTTTTCTGAAAGCAAAAGATCCAGAGGAACCTATTCCCAATTAATTTTGCCTACAAATAGGCCAGAAACTTCATTAGAGTTATTCCTTATACAAAGTATTATAACGGTATGTTAAAACAATCTGAGTAAATAACTTTTGTAAATTCTTCTATAAATTATTTTTTTATCTCACTTTCACTCTAAATGCAACAATTTCATTGGTTATATAAGGCAAATTACTCTTACTATAAACTGAAAAAAAAATCTAAGCTTGGAGTAACGGATTACAAACTGTGGTTTAAGATTAATCTAAATCATGGTAGTATATATAATGAAGAGAATTACACTATTTACACTTGTTCAAAGCCACTTATAAAGATAGGAAGATGACAGCAGATTACATGCTAAAAATAGTATTAGTTCTACCAGTAGAAAAAATTCACTTTTCACCTTTACATAGGTACTAACATAAATACTGCGTGGGACTAAAAACATTTGGGAAGATGAAATGAAAAACTTTACATTACATAAATTATAAGTGGGAAATTTCCCTTTTATAAGGAAGATTTATATTGATTACTCTATAAACCTAAAGCAGCCATTTTCATATTATATATAAATTATCTTTTACCTTGACTTGGTATGGAACCATCTACTCAAACTACAACATGGATCCTGTAGACTTTTTAGTAGACTTATTCATACTCCTGAAGTTATTTTAGTGACTAAATAAATAAGAATTACATTGTTCTCTCAGAGGGAAAGTACTCAGAATTCCAGGGAAAGGCAAGAAATGTAATTTATATCACGAAGAAATGTACTTGTCTAAATTATTAGGGATGCAAACCATTTTGCAAAGGGAAGAGTAAATGTAAATCACCTTTAAAAATCATTTTTAGATCCTCTGTCCTTAAAATGACACACCATATAGTCTATGGAGGACAGATATGGTGGTGGGAACGATATCTCAATGTACAATGTTAGAATAGAATGGTTCCATTCTTATTGTGTTCTATACTAAATGGGGTAACTGAGAATTGCAAAAATTTTTATTAATAGTTCAAAATAGAAACAGAATCATGATAGAACCATGCTAATTAGTTTACCATGCTCTCTTGGAGGCACAGTATGATATAGGACTAAAGGGCAGAAACCTGAAATCAGCATATTTGGATTTAAGTCCTGGTTCTGCCATGTTGTAGCTGGATATCTGTGCAAGTTACTCCCTGACTCTTCATTTCCCCTTCTGTAAAATGAGGACAATATTAGTCCCTACCTCATAGGGTTGTTGTGAGAATTAAATATGTAAAATGCTTAGAACAGTTCCTGGCATATATTATAGTAAGTACCACATAACAACTATCATTACCTCAACTTGCAGGAGAACATGTTTTTAGAATATTTTAAATTTGGATATCACAACTTAATAGAGGAGTGATAAAATTTTAAAAAGGAAAGACACCAATACATAAAGAAACTCTTTAAACAACCAGAAGTATCTCAGTGAAATCTTGATCCAAAATCATAAAATGTACTTTTGTTGACAATGTAAAAGAGAACACACATGTGCCAAATCAATACACTGAAACAGTACTTTGACAGCCTCAATTAGTCATAACTTTAAATGGTTTGGAATGCATATTTCTTTACTCCACATTAGA
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GCCACATGTACATTTGCTTTACATTACACTTGTCCTGCCCCAAGCACTCATAACTCTATTTCCAGTTTGCCTAGATCCTAGATACCTAGTAGGATTGTTTCAGTCCTGAATTATCACAATAGCAGTCAATCAGGAAAACATCAGCTGGTTAAAGATACCCTATGAATACAGGGAAAATGACACACATACAACTTACTCATTAATAATCAGATCAGGAGCAAAACACAGCAGGTTTGCACTTGATTGTCTATATGATCTCCACCCCAGAGCAAATGCCATAAGAAACATCCAGGAGTACTGCAGTAGGGTCATTTGGTCATCCAGGTGTAAGTTCCTGAAACCTGAATTAAGAGAAATAAAGGTATGAGGCAACACTCTTCAGAAGATCATCTCTGTGGGAATTGCCAAGGAGCAATGAGATCAATTAGCCCTGTCAAAACAAGGGCACCCCTAACAGAAAATGGAAATTAAATACTAGGTAGACACAGTTTTCTTCTGTCATCTGACACTTTAAGACTCACAAACCCTCTTGTGTTTTTTTTTTTTTTTTTTTTTTTAATTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGTGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCAGTGCCAGCCTCCCAAGTAGCTAGGAATACAGATTCATACCACCATGCCCGGCTAATTTTTGTAATTTTAGTAGAGATGGGGTTTTGCTATGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCAACTGATCCACCCACCTGGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCACCCAGCCCCCTAGGTGCTTTTTAATAGCTTTTAATGTAAAAAAAAAAAAAAAAAGCCAGTTTTGTCACCTCTGTCTGCTTAAGTAAACATGAACTAAATAGTAAAATAGCCAAAATTCTTGGCTTGGCGGTTACCAGTGACCGGGAAAGATAGTGGTGATGGGGATGAAGCGGGAATGGTTGACGGGTGCAAAAATACAGTTAGAAGAAATAAGTTTTAGTGTTCAGTAGCACAACAGGATGACTATAGTTAACAATAATTTACTTTATATTTCAAAATAGCTAAAAGAGAAGATTTGGAATGTTCCCCAAACAAATGTTTGAGGTGATGGATATCCCAGTTACTCTGATTTGATCCTTACACGTTGTATGCTTTTATTAAATTATTACATGTACCCCCTAAATATAAATATGTACAGTAAATATGTACAACTATTATGTATTGATTTTAAAAAACAGAAAAGAATCTTGGCTTGAGGTATTAATCAATGAGTTAAGCAAAACATTTGCCCTGCTATTCACACCTCTTTCCCCCTTAATAAAACAAGGATGACAGGAGGTCAGGTTACTTTCTTGCTCTCTCCCTAACTATTTGCGTGAACACAGGCTTGTCAATTCCCTGTCTTTAAAGTCAGAGCTGACACTAACATTGACCTCTGCCATTCCACACCAAATTCCAATAGGGTAACTTTTATTTAAAATTATCTTTAAAATTACATTCAATGTGTAGCATTTCATTTAGTGAAGGGTTAAAATCATTCTACTTTAGTACAAATTTTGACAATCAACATACTTGATGTTTACCAATCTTACAAACAACCTGATTTTTAAAAGTGGCACAATGAAGGAAAACAAATGGAATTAACTAAAAACATTTTCTTTCCCCAAACTTCAGTGTAAAAGGAGTTTTGAGTGAGTCTTGTAACTTGAATTCTGATATTACATCATCCTATGTGAAATTACCATCCTGTGCATAATGATTTGAAAAGCAGGGAGTAATGTAAATGTTTTATTATAAACTCCCTATCACCTGTATTCACCTGACTCTCCCCTTCATAGTCCCCAGAACTAAGAGAAACAAGATAAGCCATGGGCTCACGATGATATAAAAGCCAAAGTGTTTTTGCTGAAGAAAACACAAAGGTTTATATAGTTGCTCTTTTATGTTTTGCATCTTACCTGGTATTGCCTTTGCCCATTTCACTGCTGCAATCGCTTGCCGCCCTCCTAACATGTTGAGCGTAGTCATGATCCTCCAAGTTGAGTCTGGAACAGAGCTATCATATCCTGCATATAACACTTCAGGTTCAATAACCTCCAACAGTGACACCAGGGTAGGGGTGAGTTGTGGTAACGTTGCAGGAACTATTGTTTTGTTACCAGGATTTTCAGAGGTTTCTTGTGAGACTCCTGTAGTGGCCTGCTGAATTCCTTTTATTTTTTTCTTTGTTTTTCGAGCTGTGGGTATTTAAACAAATACATAGAAATGAACTGTAATGGGAAGGTCTGCGCTACACAGTTTATTCAAGAAGTATTTTTACTTTCTAAAACTATTAAGATGGGAGAAATATTTTATTTAGCAATTATGATAAAGTGACATGGAAAAGGAGAAAAAACTTTTTTTTTTCTGAAAGCAAAAGATCCAGAGGAACCTATTCCCAATTAATTTTGCCTACAAATAGGCCAGAAACTTCATTAGAGTTATTCCTTATACAAAGTATTATAACGGTATGTTAAAACAATCTGAGTAAATAACTTTTGTAAATTCTTCTATAAATTATTTTTTTATCTCACTTTCACTCTAAATGCAACAATTTCATTGGTTATATAAGGCAAATTACTCTTACTATAAACTGAAAAAAAAATCTAAGCTTGGAGTAACGGATTACAAACTGTGGTTTAAGATTAATCTAAATCATGGTAGTATATATAATGAAGAGAATTACACTATTTACACTTGTTCAAAGCCACTTATAAAGATAGGAAGATGACAGCAGATTACATGCTAAAAATAGTATTAGTTCTACCAGTAGAAAAAATTCACTTTTCACCTTTACATAGGTACTAACATAAATACTGCGTGGGACTAAAAACATTTGGGAAGATGAAATGAAAAACTTTACATTACATAAATTATAAGTGGGAAATTTCCCTTTTATAAGGAAGATTTATATTGATTACTCTATAAACCTAAAGCAGCCATTTTCATATTATATATAAATTATCTTTTACCTTGACTTGGTATGGAACCATCTACTCAAACTACAACATGGATCCTGTAGACTTTTTAGTAGACTTATTCATACTCCTGAAGTTATTTTAGTGACTAAATAAATAAGAATTACATTGTTCTCTCAGAGGGAAAGTACTCAGAATTCCAGGGAAAGGCAAGAAATGTAATTTATATCACGAAGAAATGTACTTGTCTAAATTATTAGGGATGCAAACCATTTTGCAAAGGGAAGAGTAAATGTAAATCACCTTTAAAAATCATTTTTAGATCCTCTGTCCTTAAAATGACACACCATATAGTCTATGGAGGACAGATATGGTGGTGGGAACGATATCTCAATGTACAATGTTAGAATAGAATGGTTCCATTCTTATTGTGTTCTATACTAAATGGGGTAACTGAGAATTGCAAAAATTTTTATTAATAGTTCAAAATAGAAACAGAATCATGATAGAACCATGCTAATTAGTTTACCATGCTCTCTTGGAGGCACAGTATGATATAGGACTAAAGGGCAGAAACCTGAAATCAGCATATTTGGATTTAAGTCCTGGTTCTGCCATGTTGTAGCTGGATATCTGTGCAAGTTACTCCCTGACTCTTCATTTCCCCTTCTGTAAAATGAGGACAATATTAGTCCCTACCTCATAGGGTTGTTGTGAGAATTAAATATGTAAAATGCTTAGAACAGTTCCTGGCATATATTATAGTAAGTACCACATAACAACTATCATTACCTCAACTTGCAGGAGAACATGTTTTTAGAATATTTTAAATTTGGATATCACAACTTAATAGAGGAGTGATAAAATTTTAAAAAGGAAAGACACCAATACATAAAGAAACTCTTTAAACAACCAGAAGTATCTCAGTGAAATCTTGATCCAAAATCATAAAATGTACTTTTGTTGACAATGTAAAAGAGAACACACATGTGCCAAATCAATACACTGAAACAGTACTTTGACAGCCTCAATTAGTCATAACTTTAAATGGTTTGGAATGCATATTTCTTTACTCCACATTAGA
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Task1_train_9596
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This variant affects gene NR3C1 (nuclear receptor subfamily 3 group C member 1) located on Chromosome 5. Evaluate its biological effect and specify any disease association.
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Pathogenic; Glucocorticoid resistance
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GCCCCAAGCACTCATAACTCTATTTCCAGTTTGCCTAGATCCTAGATACCTAGTAGGATTGTTTCAGTCCTGAATTATCACAATAGCAGTCAATCAGGAAAACATCAGCTGGTTAAAGATACCCTATGAATACAGGGAAAATGACACACATACAACTTACTCATTAATAATCAGATCAGGAGCAAAACACAGCAGGTTTGCACTTGATTGTCTATATGATCTCCACCCCAGAGCAAATGCCATAAGAAACATCCAGGAGTACTGCAGTAGGGTCATTTGGTCATCCAGGTGTAAGTTCCTGAAACCTGAATTAAGAGAAATAAAGGTATGAGGCAACACTCTTCAGAAGATCATCTCTGTGGGAATTGCCAAGGAGCAATGAGATCAATTAGCCCTGTCAAAACAAGGGCACCCCTAACAGAAAATGGAAATTAAATACTAGGTAGACACAGTTTTCTTCTGTCATCTGACACTTTAAGACTCACAAACCCTCTTGTGTTTTTTTTTTTTTTTTTTTTTTTAATTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGTGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCAGTGCCAGCCTCCCAAGTAGCTAGGAATACAGATTCATACCACCATGCCCGGCTAATTTTTGTAATTTTAGTAGAGATGGGGTTTTGCTATGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCAACTGATCCACCCACCTGGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCACCCAGCCCCCTAGGTGCTTTTTAATAGCTTTTAATGTAAAAAAAAAAAAAAAAAGCCAGTTTTGTCACCTCTGTCTGCTTAAGTAAACATGAACTAAATAGTAAAATAGCCAAAATTCTTGGCTTGGCGGTTACCAGTGACCGGGAAAGATAGTGGTGATGGGGATGAAGCGGGAATGGTTGACGGGTGCAAAAATACAGTTAGAAGAAATAAGTTTTAGTGTTCAGTAGCACAACAGGATGACTATAGTTAACAATAATTTACTTTATATTTCAAAATAGCTAAAAGAGAAGATTTGGAATGTTCCCCAAACAAATGTTTGAGGTGATGGATATCCCAGTTACTCTGATTTGATCCTTACACGTTGTATGCTTTTATTAAATTATTACATGTACCCCCTAAATATAAATATGTACAGTAAATATGTACAACTATTATGTATTGATTTTAAAAAACAGAAAAGAATCTTGGCTTGAGGTATTAATCAATGAGTTAAGCAAAACATTTGCCCTGCTATTCACACCTCTTTCCCCCTTAATAAAACAAGGATGACAGGAGGTCAGGTTACTTTCTTGCTCTCTCCCTAACTATTTGCGTGAACACAGGCTTGTCAATTCCCTGTCTTTAAAGTCAGAGCTGACACTAACATTGACCTCTGCCATTCCACACCAAATTCCAATAGGGTAACTTTTATTTAAAATTATCTTTAAAATTACATTCAATGTGTAGCATTTCATTTAGTGAAGGGTTAAAATCATTCTACTTTAGTACAAATTTTGACAATCAACATACTTGATGTTTACCAATCTTACAAACAACCTGATTTTTAAAAGTGGCACAATGAAGGAAAACAAATGGAATTAACTAAAAACATTTTCTTTCCCCAAACTTCAGTGTAAAAGGAGTTTTGAGTGAGTCTTGTAACTTGAATTCTGATATTACATCATCCTATGTGAAATTACCATCCTGTGCATAATGATTTGAAAAGCAGGGAGTAATGTAAATGTTTTATTATAAACTCCCTATCACCTGTATTCACCTGACTCTCCCCTTCATAGTCCCCAGAACTAAGAGAAACAAGATAAGCCATGGGCTCACGATGATATAAAAGCCAAAGTGTTTTTGCTGAAGAAAACACAAAGGTTTATATAGTTGCTCTTTTATGTTTTGCATCTTACCTGGTATTGCCTTTGCCCATTTCACTGCTGCAATCACTTGCCGCCCTCCTAACATGTTGAGCGTAGTCATGATCCTCCAAGTTGAGTCTGGAACAGAGCTATCATATCCTGCATATAACACTTCAGGTTCAATAACCTCCAACAGTGACACCAGGGTAGGGGTGAGTTGTGGTAACGTTGCAGGAACTATTGTTTTGTTACCAGGATTTTCAGAGGTTTCTTGTGAGACTCCTGTAGTGGCCTGCTGAATTCCTTTTATTTTTTTCTTTGTTTTTCGAGCTGTGGGTATTTAAACAAATACATAGAAATGAACTGTAATGGGAAGGTCTGCGCTACACAGTTTATTCAAGAAGTATTTTTACTTTCTAAAACTATTAAGATGGGAGAAATATTTTATTTAGCAATTATGATAAAGTGACATGGAAAAGGAGAAAAAACTTTTTTTTTTCTGAAAGCAAAAGATCCAGAGGAACCTATTCCCAATTAATTTTGCCTACAAATAGGCCAGAAACTTCATTAGAGTTATTCCTTATACAAAGTATTATAACGGTATGTTAAAACAATCTGAGTAAATAACTTTTGTAAATTCTTCTATAAATTATTTTTTTATCTCACTTTCACTCTAAATGCAACAATTTCATTGGTTATATAAGGCAAATTACTCTTACTATAAACTGAAAAAAAAATCTAAGCTTGGAGTAACGGATTACAAACTGTGGTTTAAGATTAATCTAAATCATGGTAGTATATATAATGAAGAGAATTACACTATTTACACTTGTTCAAAGCCACTTATAAAGATAGGAAGATGACAGCAGATTACATGCTAAAAATAGTATTAGTTCTACCAGTAGAAAAAATTCACTTTTCACCTTTACATAGGTACTAACATAAATACTGCGTGGGACTAAAAACATTTGGGAAGATGAAATGAAAAACTTTACATTACATAAATTATAAGTGGGAAATTTCCCTTTTATAAGGAAGATTTATATTGATTACTCTATAAACCTAAAGCAGCCATTTTCATATTATATATAAATTATCTTTTACCTTGACTTGGTATGGAACCATCTACTCAAACTACAACATGGATCCTGTAGACTTTTTAGTAGACTTATTCATACTCCTGAAGTTATTTTAGTGACTAAATAAATAAGAATTACATTGTTCTCTCAGAGGGAAAGTACTCAGAATTCCAGGGAAAGGCAAGAAATGTAATTTATATCACGAAGAAATGTACTTGTCTAAATTATTAGGGATGCAAACCATTTTGCAAAGGGAAGAGTAAATGTAAATCACCTTTAAAAATCATTTTTAGATCCTCTGTCCTTAAAATGACACACCATATAGTCTATGGAGGACAGATATGGTGGTGGGAACGATATCTCAATGTACAATGTTAGAATAGAATGGTTCCATTCTTATTGTGTTCTATACTAAATGGGGTAACTGAGAATTGCAAAAATTTTTATTAATAGTTCAAAATAGAAACAGAATCATGATAGAACCATGCTAATTAGTTTACCATGCTCTCTTGGAGGCACAGTATGATATAGGACTAAAGGGCAGAAACCTGAAATCAGCATATTTGGATTTAAGTCCTGGTTCTGCCATGTTGTAGCTGGATATCTGTGCAAGTTACTCCCTGACTCTTCATTTCCCCTTCTGTAAAATGAGGACAATATTAGTCCCTACCTCATAGGGTTGTTGTGAGAATTAAATATGTAAAATGCTTAGAACAGTTCCTGGCATATATTATAGTAAGTACCACATAACAACTATCATTACCTCAACTTGCAGGAGAACATGTTTTTAGAATATTTTAAATTTGGATATCACAACTTAATAGAGGAGTGATAAAATTTTAAAAAGGAAAGACACCAATACATAAAGAAACTCTTTAAACAACCAGAAGTATCTCAGTGAAATCTTGATCCAAAATCATAAAATGTACTTTTGTTGACAATGTAAAAGAGAACACACATGTGCCAAATCAATACACTGAAACAGTACTTTGACAGCCTCAATTAGTCATAACTTTAAATGGTTTGGAATGCATATTTCTTTACTCCACATTAGAACAAGGAAGAAAGAGTAACAAGCTGGAGGATTAAAA
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GCCCCAAGCACTCATAACTCTATTTCCAGTTTGCCTAGATCCTAGATACCTAGTAGGATTGTTTCAGTCCTGAATTATCACAATAGCAGTCAATCAGGAAAACATCAGCTGGTTAAAGATACCCTATGAATACAGGGAAAATGACACACATACAACTTACTCATTAATAATCAGATCAGGAGCAAAACACAGCAGGTTTGCACTTGATTGTCTATATGATCTCCACCCCAGAGCAAATGCCATAAGAAACATCCAGGAGTACTGCAGTAGGGTCATTTGGTCATCCAGGTGTAAGTTCCTGAAACCTGAATTAAGAGAAATAAAGGTATGAGGCAACACTCTTCAGAAGATCATCTCTGTGGGAATTGCCAAGGAGCAATGAGATCAATTAGCCCTGTCAAAACAAGGGCACCCCTAACAGAAAATGGAAATTAAATACTAGGTAGACACAGTTTTCTTCTGTCATCTGACACTTTAAGACTCACAAACCCTCTTGTGTTTTTTTTTTTTTTTTTTTTTTTAATTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGTGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCAGTGCCAGCCTCCCAAGTAGCTAGGAATACAGATTCATACCACCATGCCCGGCTAATTTTTGTAATTTTAGTAGAGATGGGGTTTTGCTATGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCAACTGATCCACCCACCTGGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCACCCAGCCCCCTAGGTGCTTTTTAATAGCTTTTAATGTAAAAAAAAAAAAAAAAAGCCAGTTTTGTCACCTCTGTCTGCTTAAGTAAACATGAACTAAATAGTAAAATAGCCAAAATTCTTGGCTTGGCGGTTACCAGTGACCGGGAAAGATAGTGGTGATGGGGATGAAGCGGGAATGGTTGACGGGTGCAAAAATACAGTTAGAAGAAATAAGTTTTAGTGTTCAGTAGCACAACAGGATGACTATAGTTAACAATAATTTACTTTATATTTCAAAATAGCTAAAAGAGAAGATTTGGAATGTTCCCCAAACAAATGTTTGAGGTGATGGATATCCCAGTTACTCTGATTTGATCCTTACACGTTGTATGCTTTTATTAAATTATTACATGTACCCCCTAAATATAAATATGTACAGTAAATATGTACAACTATTATGTATTGATTTTAAAAAACAGAAAAGAATCTTGGCTTGAGGTATTAATCAATGAGTTAAGCAAAACATTTGCCCTGCTATTCACACCTCTTTCCCCCTTAATAAAACAAGGATGACAGGAGGTCAGGTTACTTTCTTGCTCTCTCCCTAACTATTTGCGTGAACACAGGCTTGTCAATTCCCTGTCTTTAAAGTCAGAGCTGACACTAACATTGACCTCTGCCATTCCACACCAAATTCCAATAGGGTAACTTTTATTTAAAATTATCTTTAAAATTACATTCAATGTGTAGCATTTCATTTAGTGAAGGGTTAAAATCATTCTACTTTAGTACAAATTTTGACAATCAACATACTTGATGTTTACCAATCTTACAAACAACCTGATTTTTAAAAGTGGCACAATGAAGGAAAACAAATGGAATTAACTAAAAACATTTTCTTTCCCCAAACTTCAGTGTAAAAGGAGTTTTGAGTGAGTCTTGTAACTTGAATTCTGATATTACATCATCCTATGTGAAATTACCATCCTGTGCATAATGATTTGAAAAGCAGGGAGTAATGTAAATGTTTTATTATAAACTCCCTATCACCTGTATTCACCTGACTCTCCCCTTCATAGTCCCCAGAACTAAGAGAAACAAGATAAGCCATGGGCTCACGATGATATAAAAGCCAAAGTGTTTTTGCTGAAGAAAACACAAAGGTTTATATAGTTGCTCTTTTATGTTTTGCATCTTACCTGGTATTGCCTTTGCCCATTTCACTGCTGCAATCACTTGCCGCCCTCCTAACATGTTGAGCGTAGTCATGTTCCTCCAAGTTGAGTCTGGAACAGAGCTATCATATCCTGCATATAACACTTCAGGTTCAATAACCTCCAACAGTGACACCAGGGTAGGGGTGAGTTGTGGTAACGTTGCAGGAACTATTGTTTTGTTACCAGGATTTTCAGAGGTTTCTTGTGAGACTCCTGTAGTGGCCTGCTGAATTCCTTTTATTTTTTTCTTTGTTTTTCGAGCTGTGGGTATTTAAACAAATACATAGAAATGAACTGTAATGGGAAGGTCTGCGCTACACAGTTTATTCAAGAAGTATTTTTACTTTCTAAAACTATTAAGATGGGAGAAATATTTTATTTAGCAATTATGATAAAGTGACATGGAAAAGGAGAAAAAACTTTTTTTTTTCTGAAAGCAAAAGATCCAGAGGAACCTATTCCCAATTAATTTTGCCTACAAATAGGCCAGAAACTTCATTAGAGTTATTCCTTATACAAAGTATTATAACGGTATGTTAAAACAATCTGAGTAAATAACTTTTGTAAATTCTTCTATAAATTATTTTTTTATCTCACTTTCACTCTAAATGCAACAATTTCATTGGTTATATAAGGCAAATTACTCTTACTATAAACTGAAAAAAAAATCTAAGCTTGGAGTAACGGATTACAAACTGTGGTTTAAGATTAATCTAAATCATGGTAGTATATATAATGAAGAGAATTACACTATTTACACTTGTTCAAAGCCACTTATAAAGATAGGAAGATGACAGCAGATTACATGCTAAAAATAGTATTAGTTCTACCAGTAGAAAAAATTCACTTTTCACCTTTACATAGGTACTAACATAAATACTGCGTGGGACTAAAAACATTTGGGAAGATGAAATGAAAAACTTTACATTACATAAATTATAAGTGGGAAATTTCCCTTTTATAAGGAAGATTTATATTGATTACTCTATAAACCTAAAGCAGCCATTTTCATATTATATATAAATTATCTTTTACCTTGACTTGGTATGGAACCATCTACTCAAACTACAACATGGATCCTGTAGACTTTTTAGTAGACTTATTCATACTCCTGAAGTTATTTTAGTGACTAAATAAATAAGAATTACATTGTTCTCTCAGAGGGAAAGTACTCAGAATTCCAGGGAAAGGCAAGAAATGTAATTTATATCACGAAGAAATGTACTTGTCTAAATTATTAGGGATGCAAACCATTTTGCAAAGGGAAGAGTAAATGTAAATCACCTTTAAAAATCATTTTTAGATCCTCTGTCCTTAAAATGACACACCATATAGTCTATGGAGGACAGATATGGTGGTGGGAACGATATCTCAATGTACAATGTTAGAATAGAATGGTTCCATTCTTATTGTGTTCTATACTAAATGGGGTAACTGAGAATTGCAAAAATTTTTATTAATAGTTCAAAATAGAAACAGAATCATGATAGAACCATGCTAATTAGTTTACCATGCTCTCTTGGAGGCACAGTATGATATAGGACTAAAGGGCAGAAACCTGAAATCAGCATATTTGGATTTAAGTCCTGGTTCTGCCATGTTGTAGCTGGATATCTGTGCAAGTTACTCCCTGACTCTTCATTTCCCCTTCTGTAAAATGAGGACAATATTAGTCCCTACCTCATAGGGTTGTTGTGAGAATTAAATATGTAAAATGCTTAGAACAGTTCCTGGCATATATTATAGTAAGTACCACATAACAACTATCATTACCTCAACTTGCAGGAGAACATGTTTTTAGAATATTTTAAATTTGGATATCACAACTTAATAGAGGAGTGATAAAATTTTAAAAAGGAAAGACACCAATACATAAAGAAACTCTTTAAACAACCAGAAGTATCTCAGTGAAATCTTGATCCAAAATCATAAAATGTACTTTTGTTGACAATGTAAAAGAGAACACACATGTGCCAAATCAATACACTGAAACAGTACTTTGACAGCCTCAATTAGTCATAACTTTAAATGGTTTGGAATGCATATTTCTTTACTCCACATTAGAACAAGGAAGAAAGAGTAACAAGCTGGAGGATTAAAA
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Task1_train_9597
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This mutation is located in gene NR3C1 (nuclear receptor subfamily 3 group C member 1) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; not provided
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CATAAATCTATTTTCTATTTAACAAGATGTCTACACACAGTGTGTGCTAGATAGCACCAACAATTAGTCTCTCCTATCAAAAGAACCACATAGGTCAGTTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCACGTTGGGAGGATCACTTAAGGCCAGGAGTTAGACACCAGCCTGGGAACATAGCAAGACCCCTTTGTCTCTACAAAAAATTAAAACAAAAATTAAAAAAAAATCAGCTGGGCATGGTAGTGTACATCCGTAGCCCTACTGGGTGGGAAGATGGCTTGAGTCTAGGAGTTCAAGGCTGCAGTGAGCCATGTTCATGTCACTGCACTCCAGCCTGGGTGACAAGAGTTAGACTCTGTCTCTAAAATAATAATAATCATCATAATCATAAAAGGAACCACATGGTTTCCATTCTCTCTCAGTACTGCCATCTCTTATCTGGAGGACTGCCATATTCACTTAATTGGTCTCTCCATGTAAGATTAGTCTTTGTAAAATACAAATCTGATCATGTCTCTGCCCTTATTTTTCATCTATCTAATTCCTACTCAGCTTATAGATTTAAAATTCAATGTTACTTCTTCCTTGACTTCCAAGACAGAATTAGGTGACCTTCCTCTTGTTCCTGTGGCCCTATGCCCTCTATGGTGTGCCATGCTATTTTGTGACTGACTCTGCAACCTAACTAGCAGATAAACTACTTGAATACAGGCACTATTTTATTCATTTTATACCTAGTGACTGCCTTGTTGGTGCATATTTGTTGAATAAAAGTGCTAATTTCACAATAAATACTAAGCATATGTGTTATGAGATCACCACTACCTTCACAGAACTTGCAATTTCAACCACAGCAGAATTCCAAACTTTTTTCAGAGGAAAATTTTTTAATGCTGAGATCAGTGTTAATTATACAACTTGTTATATAAACAGGGATATGAAACTCTAACTTATAACTAGTTTCAGGTTTCTTTTTTTTTTTTTTTTTCCAAGACGGAGTCTTGCTCTGTCGCCAAGCTGGAGTACAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGACACCACCACGCTCCGCTAATTTTTGTGTTTTTAGCAGAGACAGGGTTTCACCATGTTAGCCAGGATGATCTTGATCTCTTGACCTCGTGATCCGCCTGCCTTGGTCTCCCAAAGTGCGGGGAGACCAAGAAACTTTCTCAGAAACTTCTCACTGTTGTGTGCATTCAGGTCATGGAGTTGAACGTTTCTTTTGATTGAGCAGTTTTTCAAACACTCATTTTATAGAATCTGCAAGTGGATATTTGGAGCGCTTTGAGGCCTACGGTGGAAAAGGTAATATCTTCACATAAAAACTAGACAGAAGGATTCTCACAAACTTCGGGGATTACAGGCGTGAGCCACTGCACCCGGCCCAGGTTTCTTCTTTACTTGAAAACCAAAACAAAACCCATCCAGTTCTTCCTTGAGGTTTTTTTTTTCCCACCACCCCCCGCTTGAAGATCTGTAATAAAACACAGATCTCCAAGTAAAAGGTATGCTTTTAAAAGGCAAACAGAAAAATGGACATGTAAATATGTCTGATACAGAAACATTTCCAACCCTAGGGAATAGTTTTGAGGCTGAAAAAAGGAGTAAGAATAATAAAGTTGCTGCATGTTGTGTAAGTTTCATTATTACATAATTTCCTTTCTTTGTATATAGTCTGGCTGTACTGAATTCAGTGTGTGTAAGAAGAACTGGTGGATAAACAAACAATATGACATATTCATGAAAAAAATTTCCCATTTTTATTGGGCAGTAACATTATGCTAGTCAAGCATATATATACTGAACTGACTACATTAATTACATCTGCTTACGTGTATCTTCAAAAGTAAAATGATAAATTTTTATAAGCTACAGAGACAAACAATTGCTTTCAGATATTTATATTACCTTCCAGGTTCATTCCAGCCTGAAGACATTTTCGATAGCGGCATGCTGGGCAGTTTTTTCTTCGAATTTTATCGATGATGCAATCATTCCTTCCAGCACATAGGTAATTGTGCTGTCCTATATGGAATAAAAGGCACTATTAAAGTTTCACAGGTCTTCAAACATATTTTATAAGGACAGCCTCTGTCTTTGTTTCCGGTGGAATATAACCAAGACACCCACAGGTATTGCCTTGAGGGAATGTTCTTGCCTACATTGCCATTATGAGGTCGAGAGGTCAAAAACAACAAAAAGAGTCTCCCTTTTTCTGTTCAACAAACTGAAAACAGTGCAATAAAAAACCTTATTGCAGTATTCACATATAAAAAAAGTACACAAATCAGTGAACCATTTAATAAATTTTTACAAACCAAGAACCTTTATGTAATCAGCTCTCAGATCAAGAAACAGAACAGTACCCCAACAGGCCCCCTTTCTGCCCAATTCCAGCCAGTACCCACCAAGGGTAACTACTTTTTTGATAAACTGTGTTTTACACAGTTTGATAGATTATGTTTTTTTATTTTTATTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGGAGTGTAGTAGTGTAGTGGCATGACCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGGCTCAGACTCCCGAGTAGCTGGGATTACAGGTGCACGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGATTGTCTCGATCTCAGGACCTCGTGATCCACCCGCCTCGGCCTCCCGATGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAATAGATTGTGTTTTAAACAAATAATAGTTTGGGGTAGATGGTTAACTGTATCAGGTTCAATTCTTTGTAAAGAATAGGCCACAAAATTGACCACTAGACTATAATTCACCTTTGTTCAGAGCTGCTCTCCAATGCCAAATATCTGTACCAGCTGTTTCAATTTCTTTTTGTACTCTATAAATATCCTAGCTTCTTTACTTGGACAGAAAATGGAAGCACTAACCCAATTCTATCCCCTATAAATCAAAAGTACGATCAACAGATACATCTATTGATGAAGTGGTTATAATACAAAAAAGTTATACCCTATAAGGAATCTCTAAATCACTGTCCTACAGTTACTGGAAGAAAAAAAGAAAAAAAATCACCCACTGCTAAAAATGAAAAATTCCAAAGTTTTGTTTATATCCAACTGAAATGTCAGGATGTGCACATTACGCCAATCTTGATTTCTTTATCCCAGGTATGTCTTGTGCACAGCTAAGACTCTGAGCTATAGGATCAGAGGCAATGTACCTTCATAAGTTAAAAATAGCCCTTTGTGGTTATTAGCATGAAGTTGGACAAGTCTATCTATCTGTTCCTTATCTATAAAATGAGGAGTTTTAACTAGTATTCACTATTTCATAACACATGGCCACGTACAACTAATAGTCATTTCCTGTCAATCCATTCATTCATTCCTTGACTCATTTATTTATTTATTTTTAGACAAGTTCTTGCTACGTTGCCTAGGCTGGAGTACAGTGGTGTGTCATAGCTCTTTGCAGCCTGAATCTCCTGCTTTAGCTTCCTGAGTAGCTGAGACTACAGGTGCGATGCCTGGATAACGTTTTTTTTTTTTTTTTTTTTCCTGTAGAGACGGGGTCTCGTTATGTTGCTCAGGCTGGTCTCAAACTCCAGGCCTCAAGCAATCCTCCCATCTTGGCCTCCCAAATTGCTGGGATAATAGGTGTGAGCCACAGTGCACAGCCCATTTTCCTTGAGCCACAGTGCCCAGCCCATTTTCCTGTCAACCCTTCTGATAAGACAATGAGATATCTTATTTTGGAGTTCCTGTGTCTTCTACTACTTGGTAAATTCCCTTTCTAACTAATAGAAAGATGAGTCTTCAAGTCAGCTGAAATTTTGTGACTTTGTTTTGTTTATATGGTATTCATTTTTGTGGTTAAAGTCTATTTTTGGCAAATAATTCTGGTTTTCTATTTATGGTGGGTGTGGTAGCC
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CATAAATCTATTTTCTATTTAACAAGATGTCTACACACAGTGTGTGCTAGATAGCACCAACAATTAGTCTCTCCTATCAAAAGAACCACATAGGTCAGTTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCACGTTGGGAGGATCACTTAAGGCCAGGAGTTAGACACCAGCCTGGGAACATAGCAAGACCCCTTTGTCTCTACAAAAAATTAAAACAAAAATTAAAAAAAAATCAGCTGGGCATGGTAGTGTACATCCGTAGCCCTACTGGGTGGGAAGATGGCTTGAGTCTAGGAGTTCAAGGCTGCAGTGAGCCATGTTCATGTCACTGCACTCCAGCCTGGGTGACAAGAGTTAGACTCTGTCTCTAAAATAATAATAATCATCATAATCATAAAAGGAACCACATGGTTTCCATTCTCTCTCAGTACTGCCATCTCTTATCTGGAGGACTGCCATATTCACTTAATTGGTCTCTCCATGTAAGATTAGTCTTTGTAAAATACAAATCTGATCATGTCTCTGCCCTTATTTTTCATCTATCTAATTCCTACTCAGCTTATAGATTTAAAATTCAATGTTACTTCTTCCTTGACTTCCAAGACAGAATTAGGTGACCTTCCTCTTGTTCCTGTGGCCCTATGCCCTCTATGGTGTGCCATGCTATTTTGTGACTGACTCTGCAACCTAACTAGCAGATAAACTACTTGAATACAGGCACTATTTTATTCATTTTATACCTAGTGACTGCCTTGTTGGTGCATATTTGTTGAATAAAAGTGCTAATTTCACAATAAATACTAAGCATATGTGTTATGAGATCACCACTACCTTCACAGAACTTGCAATTTCAACCACAGCAGAATTCCAAACTTTTTTCAGAGGAAAATTTTTTAATGCTGAGATCAGTGTTAATTATACAACTTGTTATATAAACAGGGATATGAAACTCTAACTTATAACTAGTTTCAGGTTTCTTTTTTTTTTTTTTTTTCCAAGACGGAGTCTTGCTCTGTCGCCAAGCTGGAGTACAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGACACCACCACGCTCCGCTAATTTTTGTGTTTTTAGCAGAGACAGGGTTTCACCATGTTAGCCAGGATGATCTTGATCTCTTGACCTCGTGATCCGCCTGCCTTGGTCTCCCAAAGTGCGGGGAGACCAAGAAACTTTCTCAGAAACTTCTCACTGTTGTGTGCATTCAGGTCATGGAGTTGAACGTTTCTTTTGATTGAGCAGTTTTTCAAACACTCATTTTATAGAATCTGCAAGTGGATATTTGGAGCGCTTTGAGGCCTACGGTGGAAAAGGTAATATCTTCACATAAAAACTAGACAGAAGGATTCTCACAAACTTCGGGGATTACAGGCGTGAGCCACTGCACCCGGCCCAGGTTTCTTCTTTACTTGAAAACCAAAACAAAACCCATCCAGTTCTTCCTTGAGGTTTTTTTTTTCCCACCACCCCCCGCTTGAAGATCTGTAATAAAACACAGATCTCCAAGTAAAAGGTATGCTTTTAAAAGGCAAACAGAAAAATGGACATGTAAATATGTCTGATACAGAAACATTTCCAACCCTAGGGAATAGTTTTGAGGCTGAAAAAAGGAGTAAGAATAATAAAGTTGCTGCATGTTGTGTAAGTTTCATTATTACATAATTTCCTTTCTTTGTATATAGTCTGGCTGTACTGAATTCAGTGTGTGTAAGAAGAACTGGTGGATAAACAAACAATATGACATATTCATGAAAAAAATTTCCCATTTTTATTGGGCAGTAACATTATGCTAGTCAAGCATATATATACTGAACTGACTACATTAATTACATCTGCTTACGTGTATCTTCAAAAGTAAAATGATAAATTTTTATAAGCTACAGAGACAAACAATTGCTTTCAGATATTTATATTACCTTCCAGGTTCATTCCAGCCTGAAGACATTTTCGATAGTGGCATGCTGGGCAGTTTTTTCTTCGAATTTTATCGATGATGCAATCATTCCTTCCAGCACATAGGTAATTGTGCTGTCCTATATGGAATAAAAGGCACTATTAAAGTTTCACAGGTCTTCAAACATATTTTATAAGGACAGCCTCTGTCTTTGTTTCCGGTGGAATATAACCAAGACACCCACAGGTATTGCCTTGAGGGAATGTTCTTGCCTACATTGCCATTATGAGGTCGAGAGGTCAAAAACAACAAAAAGAGTCTCCCTTTTTCTGTTCAACAAACTGAAAACAGTGCAATAAAAAACCTTATTGCAGTATTCACATATAAAAAAAGTACACAAATCAGTGAACCATTTAATAAATTTTTACAAACCAAGAACCTTTATGTAATCAGCTCTCAGATCAAGAAACAGAACAGTACCCCAACAGGCCCCCTTTCTGCCCAATTCCAGCCAGTACCCACCAAGGGTAACTACTTTTTTGATAAACTGTGTTTTACACAGTTTGATAGATTATGTTTTTTTATTTTTATTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGGAGTGTAGTAGTGTAGTGGCATGACCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGGCTCAGACTCCCGAGTAGCTGGGATTACAGGTGCACGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGATTGTCTCGATCTCAGGACCTCGTGATCCACCCGCCTCGGCCTCCCGATGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAATAGATTGTGTTTTAAACAAATAATAGTTTGGGGTAGATGGTTAACTGTATCAGGTTCAATTCTTTGTAAAGAATAGGCCACAAAATTGACCACTAGACTATAATTCACCTTTGTTCAGAGCTGCTCTCCAATGCCAAATATCTGTACCAGCTGTTTCAATTTCTTTTTGTACTCTATAAATATCCTAGCTTCTTTACTTGGACAGAAAATGGAAGCACTAACCCAATTCTATCCCCTATAAATCAAAAGTACGATCAACAGATACATCTATTGATGAAGTGGTTATAATACAAAAAAGTTATACCCTATAAGGAATCTCTAAATCACTGTCCTACAGTTACTGGAAGAAAAAAAGAAAAAAAATCACCCACTGCTAAAAATGAAAAATTCCAAAGTTTTGTTTATATCCAACTGAAATGTCAGGATGTGCACATTACGCCAATCTTGATTTCTTTATCCCAGGTATGTCTTGTGCACAGCTAAGACTCTGAGCTATAGGATCAGAGGCAATGTACCTTCATAAGTTAAAAATAGCCCTTTGTGGTTATTAGCATGAAGTTGGACAAGTCTATCTATCTGTTCCTTATCTATAAAATGAGGAGTTTTAACTAGTATTCACTATTTCATAACACATGGCCACGTACAACTAATAGTCATTTCCTGTCAATCCATTCATTCATTCCTTGACTCATTTATTTATTTATTTTTAGACAAGTTCTTGCTACGTTGCCTAGGCTGGAGTACAGTGGTGTGTCATAGCTCTTTGCAGCCTGAATCTCCTGCTTTAGCTTCCTGAGTAGCTGAGACTACAGGTGCGATGCCTGGATAACGTTTTTTTTTTTTTTTTTTTTCCTGTAGAGACGGGGTCTCGTTATGTTGCTCAGGCTGGTCTCAAACTCCAGGCCTCAAGCAATCCTCCCATCTTGGCCTCCCAAATTGCTGGGATAATAGGTGTGAGCCACAGTGCACAGCCCATTTTCCTTGAGCCACAGTGCCCAGCCCATTTTCCTGTCAACCCTTCTGATAAGACAATGAGATATCTTATTTTGGAGTTCCTGTGTCTTCTACTACTTGGTAAATTCCCTTTCTAACTAATAGAAAGATGAGTCTTCAAGTCAGCTGAAATTTTGTGACTTTGTTTTGTTTATATGGTATTCATTTTTGTGGTTAAAGTCTATTTTTGGCAAATAATTCTGGTTTTCTATTTATGGTGGGTGTGGTAGCC
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Task1_train_9598
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The gene YIPF5 (Yip1 domain family member 5) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Microcephaly, epilepsy, and diabetes syndrome 2
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TTTGGCTGAAGATTAACAGTGTTAAGTCTAACCAACAGCGAGATAATTTTAATTTCCAAAGCATCTTCTACCGTTTATTAGCAATATTTGGATATTAAGGGAAGACATTTGCCTTAACAAAAACTATACTGAAAAAGACAAATGAATTGAAAAAGACAAAAATACTATCCAAGAATTACAATAAAAAATTTGGTTAAGTTGGAAAGCCTATCAAATTACCTTCCAAATTGCTTTTTTAAAGCAATTTGGTAAGTTTGAAAACCTAGCCCAAAACAAATTAATGACAAGTGGGTTTCTCCAGACGATTAATGAAGAAAAACATACTTATGTGAATCAATAAATATGTTATTTCTCTCAACCTCTTTTTATGCTTTGAAAACTTGTTCTAAAAAAGAACCATTGATACATCATTTTGACATTTCTATTTAGTCTGAAAATCTCTTTAAAAAAAAAAAAAAGGCAGTATTTTCCTCCCTGTACCATATCTTTCTCGTAACTATAACTGAGCTTTGTCCAGAATCAGAGACAGTTTTTCTAGAAAAAGCCAATGATCAGTATACAAGATACAGTATTTTCCTACAGATTCTCTCTGGCAAGAGAACATGACAATATAAATCAAATAAATTTAATACAATAAAATAATGTAACTCAAACTGCTCATTTAATCCCCTTTTTGTCTGATTCTATATTAGCTGATTTCTATTCTTAAAGCTTAAATTAGGGGTCAAAATCAGAGCCTAGTTAAAAAAGAGACAAAGAGAACAGTAGTTTAGTAAAAGTAAATTCAATAACACAGTTAAAATTAATTGGGAAAGTTTTAATAAGCATTCAAATGTACTTTACATTGATAATTGCAATATTGAATTTTGTAAAACTTTAAATATTTTCCTTAAAAAAGGTTAGTGATTTTTTTATTATTTTTGGGAAATGTGGCGATCCAACGATTATAGCATTAATGCAACCATTCCAGGTCCCTAAGGTTGAGTTAACATTAATATGTAAGTAAGTGTTCGCATTTCATGTCTACAATAAGGTAGATTGTGAACTTCCCGTATCTCTGAATTTTAGCAAAAATTCCATGAGATAATTTACAGTAATGTCAAATTTTTGGAGTGCAAACTCATACTCTACATTTGGATCACTTTTTTGCTTTGAGTTACCTGACTTGAGAATACAAGGCAATTTTTCTTTCCTAAATCCTTGGAAAAATATTTTTGCAGTAAGTCTTGTGTCTCCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTCACCCAGGCTGGATGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTTGTAGTTTTAGTAGAGTCGGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGCCCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCACGCCCGGCCGTCTTGTGTCTTCTTTACTGTGACTGGGTCGTTTTTAAGAAAGGTTATCAGCTTTGTGTTTGGTTTCCCACAGTTGATAAAAATCTATCAAAAACATTATAATTTGCAAGGAAAAAGGTTTTTCAATGGCTGCAGGAACCAGAAAGAAATAGCATTTCTTATCTGTATAAACACAAACATTTAAAGCTAGTCACACCGCAGGTAAATCCAATATAGTATGCAAAAGTTCTATAAAAATGAACAAGAGATACACGTTTACTTTCATTGCTCCAACAGTCAAATGTAAATCTGCATGAGAGTTGCGCTGCAGCAGTTTGCTGGTCCAATTTAAGAGTTCAAGGTCCTTTTTGTACATCTGGCCCACTGATGTCCACATCCCAGATAAATTTTCAAAAGACGGAAATCAGGGCAAAGACTCCATATAACAAAGCGCAAGGATATGCTACTAAAAGTTGCTGTCCTTCCATGGCTAATGCAGAAATAAATATTTTGGAAGCAGAAAAACTACACCATCCAATAATCCCAGCAGTGAGAATGATTCCTACCATTCCTCTGTAAACAACAAGGAAAAAGGGGGGAGAAGAAAAAAAAGCAGATGAGATTAGTTATGTAAGAATACTACAATAACCTATTCTAAAGCATTTTAAATTTACATTTTAAATCTGCAAGTAGACATATGCAAAAATAATCAGGATTTTTTTTTTCAAATGCTAAAATGTACCTCACAGTAAATTCAATGATGGTGAATCATTTCATGGGATAAACAGCTTTTTTAGAACTATGTTTTACTTTTTAAAAATATAAGGTCTCTCATTCTTGGCACTACTGACATTTGGGCTGGATGCTATCTTTGTTGTGGGGGCTGTCCTGTGCACTGTCAGAATGTTCAGCAGCATCCCTGGCCTCTGTACATAAGATATAAGTAGCACCCTTGCCCCCCATCAGACATTGTCAAATGTCCCCTTGGAGGCAAAATTGTTCCTAGTTGAAAAAAGGGTTTTAGTAGAAAATAACTTCTGTAAAATTCAAATATGAATATATAAATTCTTAATAAATAAGAGTGATTTCTACACTGAAAATATGAAATATTTCTATTCAAAGCAGAAATAGTGTAAAGCATCATCTTGCCAAATTTCTTGTATTGGATAAATAATCGACATATTTGTCTCTTCTCCTCCCAAACCTCCACTTTAGCTTTCAAAGTGTAACAAAGCCTGACCACTGGTAATGTCTAACACTAGTCACATGGAGGATTTTATATTGAGACAATCTGCACACTGGCCAAGAGGAGGAACCTTATTGGCGGTAATGTATACCTTTCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTTTCGCTTTTGTTGCCCAGGCTGAAGTATGCAACAGGGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACACAGGCATGTGCTACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTTCATGCTGGTCAGGCTGGTCTCAAACTCCTGACATCAGGTGATCTGCCCGCCTAGGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCAACCGTGCCTGGCCATACCTATCCTTTTAACCTAACCTAAAATATCATTTAAAAATTACACCATATTTAAAGCTGCTTACAAGTACATCTATCTGAGAAACACCGCAGGCTGATAACAGCCTCTTATCATAAAAAGAATACATTTCATTTCCAGTTAGAAAGCTGCCCAATAGAGAGTATGTATTTATTATTCGTACATTTGGCATATGTCCAATGGTTTGAAGAAATTAGGTGGGATCTAGAAAATATCAAAGAGGGTAAGCATAATTTGAACACTAATGACTTGACCTTTTTCATGTAATATTTAATAATTACCCTGTTCAATTTGTTACCACTATGACAATGGTAAGTAAACACAAAACTAGTGAAATTCTTGATCATGAGTAAAATAGAGATGGTATAAAGGTTTTTAAATTTATTCTCATTACCATTGTTCTTCATCCGAAACCATTTGGCACTGTCCCTACTACAAGAGGCACTATCTGATATGTTTGCTGAATCGGTGATTTATCTCAAACTGAAGATGAGGTGAATCCTACTACATAGAATTGGTCAATCAACCCCCAAAATAAAGAACAGTACTTACTGCAAAGAAAATATCACTGCAAAGCTGGAAAGTAGGATCATGGGCAGAAGACAATATCCAAGGACACTTGCCACACAACCAAATGAAACACCTGTCATACTCATTAAGTTTAATAAACAAAACATTCCTAGACATCCAATTGCACTGATCCCGTATACATAGCCAAACTGGATTTTGCCAGCCTATGGGTAAAGAAGATTACAGGTTAAAGGGCAAAAAATAAGTTATTTCTGGCCTTATTTCACCTGAATCAGTACATGTAGCAAATAATTTATGAGCATCAAAATCTACTAATCTATCTATTCTTTACGTAGAGAAGTAAAAGACTGAGCAGACTGGCTTGTTACAT
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TTTGGCTGAAGATTAACAGTGTTAAGTCTAACCAACAGCGAGATAATTTTAATTTCCAAAGCATCTTCTACCGTTTATTAGCAATATTTGGATATTAAGGGAAGACATTTGCCTTAACAAAAACTATACTGAAAAAGACAAATGAATTGAAAAAGACAAAAATACTATCCAAGAATTACAATAAAAAATTTGGTTAAGTTGGAAAGCCTATCAAATTACCTTCCAAATTGCTTTTTTAAAGCAATTTGGTAAGTTTGAAAACCTAGCCCAAAACAAATTAATGACAAGTGGGTTTCTCCAGACGATTAATGAAGAAAAACATACTTATGTGAATCAATAAATATGTTATTTCTCTCAACCTCTTTTTATGCTTTGAAAACTTGTTCTAAAAAAGAACCATTGATACATCATTTTGACATTTCTATTTAGTCTGAAAATCTCTTTAAAAAAAAAAAAAAGGCAGTATTTTCCTCCCTGTACCATATCTTTCTCGTAACTATAACTGAGCTTTGTCCAGAATCAGAGACAGTTTTTCTAGAAAAAGCCAATGATCAGTATACAAGATACAGTATTTTCCTACAGATTCTCTCTGGCAAGAGAACATGACAATATAAATCAAATAAATTTAATACAATAAAATAATGTAACTCAAACTGCTCATTTAATCCCCTTTTTGTCTGATTCTATATTAGCTGATTTCTATTCTTAAAGCTTAAATTAGGGGTCAAAATCAGAGCCTAGTTAAAAAAGAGACAAAGAGAACAGTAGTTTAGTAAAAGTAAATTCAATAACACAGTTAAAATTAATTGGGAAAGTTTTAATAAGCATTCAAATGTACTTTACATTGATAATTGCAATATTGAATTTTGTAAAACTTTAAATATTTTCCTTAAAAAAGGTTAGTGATTTTTTTATTATTTTTGGGAAATGTGGCGATCCAACGATTATAGCATTAATGCAACCATTCCAGGTCCCTAAGGTTGAGTTAACATTAATATGTAAGTAAGTGTTCGCATTTCATGTCTACAATAAGGTAGATTGTGAACTTCCCGTATCTCTGAATTTTAGCAAAAATTCCATGAGATAATTTACAGTAATGTCAAATTTTTGGAGTGCAAACTCATACTCTACATTTGGATCACTTTTTTGCTTTGAGTTACCTGACTTGAGAATACAAGGCAATTTTTCTTTCCTAAATCCTTGGAAAAATATTTTTGCAGTAAGTCTTGTGTCTCCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTCACCCAGGCTGGATGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTTGTAGTTTTAGTAGAGTCGGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGCCCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCACGCCCGGCCGTCTTGTGTCTTCTTTACTGTGACTGGGTCGTTTTTAAGAAAGGTTATCAGCTTTGTGTTTGGTTTCCCACAGTTGATAAAAATCTATCAAAAACATTATAATTTGCAAGGAAAAAGGTTTTTCAATGGCTGCAGGAACCAGAAAGAAATAGCATTTCTTATCTGTATAAACACAAACATTTAAAGCTAGTCACACCGCAGGTAAATCCAATATAGTATGCAAAAGTTCTATAAAAATGAACAAGAGATACACGTTTACTTTCATTGCTCCAACAGTCAAATGTAAATCTGCATGAGAGTTGCGCTGCAGCAGTTTGCTGGTCCAATTTAAGAGTTCAAGGTCCTTTTTGTACATCTGGCCCACTGATGTCCACATCCCAGATAAATTTTCAAAAGACGGAAATCAGGGCAAAGACTCCATATAACAAAGCGCAAGGATATGCTACTAAAAGTTGCTGTCCTTCCATGGCTAATGCAGAAATAAATATTTTGGAAGCAGAAAAACTACACCTTCCAATAATCCCAGCAGTGAGAATGATTCCTACCATTCCTCTGTAAACAACAAGGAAAAAGGGGGGAGAAGAAAAAAAAGCAGATGAGATTAGTTATGTAAGAATACTACAATAACCTATTCTAAAGCATTTTAAATTTACATTTTAAATCTGCAAGTAGACATATGCAAAAATAATCAGGATTTTTTTTTTCAAATGCTAAAATGTACCTCACAGTAAATTCAATGATGGTGAATCATTTCATGGGATAAACAGCTTTTTTAGAACTATGTTTTACTTTTTAAAAATATAAGGTCTCTCATTCTTGGCACTACTGACATTTGGGCTGGATGCTATCTTTGTTGTGGGGGCTGTCCTGTGCACTGTCAGAATGTTCAGCAGCATCCCTGGCCTCTGTACATAAGATATAAGTAGCACCCTTGCCCCCCATCAGACATTGTCAAATGTCCCCTTGGAGGCAAAATTGTTCCTAGTTGAAAAAAGGGTTTTAGTAGAAAATAACTTCTGTAAAATTCAAATATGAATATATAAATTCTTAATAAATAAGAGTGATTTCTACACTGAAAATATGAAATATTTCTATTCAAAGCAGAAATAGTGTAAAGCATCATCTTGCCAAATTTCTTGTATTGGATAAATAATCGACATATTTGTCTCTTCTCCTCCCAAACCTCCACTTTAGCTTTCAAAGTGTAACAAAGCCTGACCACTGGTAATGTCTAACACTAGTCACATGGAGGATTTTATATTGAGACAATCTGCACACTGGCCAAGAGGAGGAACCTTATTGGCGGTAATGTATACCTTTCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTTTCGCTTTTGTTGCCCAGGCTGAAGTATGCAACAGGGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACACAGGCATGTGCTACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTTCATGCTGGTCAGGCTGGTCTCAAACTCCTGACATCAGGTGATCTGCCCGCCTAGGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCAACCGTGCCTGGCCATACCTATCCTTTTAACCTAACCTAAAATATCATTTAAAAATTACACCATATTTAAAGCTGCTTACAAGTACATCTATCTGAGAAACACCGCAGGCTGATAACAGCCTCTTATCATAAAAAGAATACATTTCATTTCCAGTTAGAAAGCTGCCCAATAGAGAGTATGTATTTATTATTCGTACATTTGGCATATGTCCAATGGTTTGAAGAAATTAGGTGGGATCTAGAAAATATCAAAGAGGGTAAGCATAATTTGAACACTAATGACTTGACCTTTTTCATGTAATATTTAATAATTACCCTGTTCAATTTGTTACCACTATGACAATGGTAAGTAAACACAAAACTAGTGAAATTCTTGATCATGAGTAAAATAGAGATGGTATAAAGGTTTTTAAATTTATTCTCATTACCATTGTTCTTCATCCGAAACCATTTGGCACTGTCCCTACTACAAGAGGCACTATCTGATATGTTTGCTGAATCGGTGATTTATCTCAAACTGAAGATGAGGTGAATCCTACTACATAGAATTGGTCAATCAACCCCCAAAATAAAGAACAGTACTTACTGCAAAGAAAATATCACTGCAAAGCTGGAAAGTAGGATCATGGGCAGAAGACAATATCCAAGGACACTTGCCACACAACCAAATGAAACACCTGTCATACTCATTAAGTTTAATAAACAAAACATTCCTAGACATCCAATTGCACTGATCCCGTATACATAGCCAAACTGGATTTTGCCAGCCTATGGGTAAAGAAGATTACAGGTTAAAGGGCAAAAAATAAGTTATTTCTGGCCTTATTTCACCTGAATCAGTACATGTAGCAAATAATTTATGAGCATCAAAATCTACTAATCTATCTATTCTTTACGTAGAGAAGTAAAAGACTGAGCAGACTGGCTTGTTACAT
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Task1_train_9599
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Gene YIPF5 (Yip1 domain family member 5) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Microcephaly, epilepsy, and diabetes syndrome 2
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TAAAAATGAACAAGAGATACACGTTTACTTTCATTGCTCCAACAGTCAAATGTAAATCTGCATGAGAGTTGCGCTGCAGCAGTTTGCTGGTCCAATTTAAGAGTTCAAGGTCCTTTTTGTACATCTGGCCCACTGATGTCCACATCCCAGATAAATTTTCAAAAGACGGAAATCAGGGCAAAGACTCCATATAACAAAGCGCAAGGATATGCTACTAAAAGTTGCTGTCCTTCCATGGCTAATGCAGAAATAAATATTTTGGAAGCAGAAAAACTACACCATCCAATAATCCCAGCAGTGAGAATGATTCCTACCATTCCTCTGTAAACAACAAGGAAAAAGGGGGGAGAAGAAAAAAAAGCAGATGAGATTAGTTATGTAAGAATACTACAATAACCTATTCTAAAGCATTTTAAATTTACATTTTAAATCTGCAAGTAGACATATGCAAAAATAATCAGGATTTTTTTTTTCAAATGCTAAAATGTACCTCACAGTAAATTCAATGATGGTGAATCATTTCATGGGATAAACAGCTTTTTTAGAACTATGTTTTACTTTTTAAAAATATAAGGTCTCTCATTCTTGGCACTACTGACATTTGGGCTGGATGCTATCTTTGTTGTGGGGGCTGTCCTGTGCACTGTCAGAATGTTCAGCAGCATCCCTGGCCTCTGTACATAAGATATAAGTAGCACCCTTGCCCCCCATCAGACATTGTCAAATGTCCCCTTGGAGGCAAAATTGTTCCTAGTTGAAAAAAGGGTTTTAGTAGAAAATAACTTCTGTAAAATTCAAATATGAATATATAAATTCTTAATAAATAAGAGTGATTTCTACACTGAAAATATGAAATATTTCTATTCAAAGCAGAAATAGTGTAAAGCATCATCTTGCCAAATTTCTTGTATTGGATAAATAATCGACATATTTGTCTCTTCTCCTCCCAAACCTCCACTTTAGCTTTCAAAGTGTAACAAAGCCTGACCACTGGTAATGTCTAACACTAGTCACATGGAGGATTTTATATTGAGACAATCTGCACACTGGCCAAGAGGAGGAACCTTATTGGCGGTAATGTATACCTTTCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTTTCGCTTTTGTTGCCCAGGCTGAAGTATGCAACAGGGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACACAGGCATGTGCTACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTTCATGCTGGTCAGGCTGGTCTCAAACTCCTGACATCAGGTGATCTGCCCGCCTAGGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCAACCGTGCCTGGCCATACCTATCCTTTTAACCTAACCTAAAATATCATTTAAAAATTACACCATATTTAAAGCTGCTTACAAGTACATCTATCTGAGAAACACCGCAGGCTGATAACAGCCTCTTATCATAAAAAGAATACATTTCATTTCCAGTTAGAAAGCTGCCCAATAGAGAGTATGTATTTATTATTCGTACATTTGGCATATGTCCAATGGTTTGAAGAAATTAGGTGGGATCTAGAAAATATCAAAGAGGGTAAGCATAATTTGAACACTAATGACTTGACCTTTTTCATGTAATATTTAATAATTACCCTGTTCAATTTGTTACCACTATGACAATGGTAAGTAAACACAAAACTAGTGAAATTCTTGATCATGAGTAAAATAGAGATGGTATAAAGGTTTTTAAATTTATTCTCATTACCATTGTTCTTCATCCGAAACCATTTGGCACTGTCCCTACTACAAGAGGCACTATCTGATATGTTTGCTGAATCGGTGATTTATCTCAAACTGAAGATGAGGTGAATCCTACTACATAGAATTGGTCAATCAACCCCCAAAATAAAGAACAGTACTTACTGCAAAGAAAATATCACTGCAAAGCTGGAAAGTAGGATCATGGGCAGAAGACAATATCCAAGGACACTTGCCACACAACCAAATGAAACACCTGTCATACTCATTAAGTTTAATAAACAAAACATTCCTAGACATCCAATTGCACTGATCCCGTATACATAGCCAAACTGGATTTTGCCAGCCTATGGGTAAAGAAGATTACAGGTTAAAGGGCAAAAAATAAGTTATTTCTGGCCTTATTTCACCTGAATCAGTACATGTAGCAAATAATTTATGAGCATCAAAATCTACTAATCTATCTATTCTTTACGTAGAGAAGTAAAAGACTGAGCAGACTGGCTTGTTACATTCTTTGTAACTTTAAAGTACAGAGATATTTGGTTCTCCATTTTCCAGTTAGTGTGTAGGCTTGGCATAGAAGTGAACAAATAAAGAGACAAAAGCATAGCAGAATCACCCAAAATAGTAAGATTTCTAAAAAGAACTCTGGATGATTTTAGGCAAATAAACTAGAGACAAGATGGAAAGCCGTTCAAAATGTCTAGATAATTGTTATATCAGTTGAAAGTACCTAATTCCACCAAAAATGCCCCAAAGCATTAATTCTCATTGGTGGAGGTAGTCATAATCTTTTTAAGAAGAAATCTTATGATTCACTTTATATGGGTGCTAGAGGAGCAAGGGGAAAGGAAGCCAGGATAAACAGGAAGCCAGGGTTCTGTGAGGAACAGAGAAGAAATGGCAAAAGGAATATAATGGAAGATATTTTTTTCTTTATTTTTCCAAATTATTGGCTGATTTATACATCCCTTTGATTAAGAAAAGACAACAATAAACAGTTTAAGCACTGCAAAGATTAGCTAAATTGGAATTATCCTGTTAGTGAAGTTTGTGAACAAACTTTGTATTCAGGTCACACTATCACTAAAACCAGTTTACAGAAAAGCCTCCAAAAATTATTGATTTATCCAATTTTTGTCACATAAAAAGTAAATTAGGAGAATGCCTCTACAGATTATGTTAAGAAAAAAAATTATTGGGACTTTTATTAGATTATTTGTAAATACTTGATTAAAAATGCAGAAGTTTGAAAAAGCTCAGCTGAGTTCATTGATGAATTAATTCATGTAGTAATAAAAAAACTCACACTTGTACAGTGTTTTTAACTTTTCAATGTGTTCTCACATAACCTGTCTTGTTTCACCTTCAAAATAATCTTGCTAGGTAAGAAGGATAGGATTATTTTCTATGAGAGGAAACTGAAGGATTAAATGATGTGGCCAAAGGCTGATCAGGAGCACTCAGTTCAAGCCCAGCTCTTATGACTAAAAATCCCATCTTCCGTATATTACATTAGTTATCTCTCATAATTCAGAGACATAAGATAAAATAAATATTAACAATTATCTTTACAACTTTTCTGTTTTCAATATGCCTTAACATTCTTGGGAAGGTGATAAATTGGGAAAATAATTATATAGAAAAGTAATCATCAGTATGACTAGAACAAAATATTAACCAAGGTTTAGAGATTTTTAAAAAAATGCTGTCATTAAAAAAAAAAAGCAATAGTGTAAAAACTGTAAGTAACCTCTGAAAAGGCAGAATTCTAATGAGGGACTGAAGCTATACCTGTTGTTTACTATTTTTTTTTTGTTTTTTCCCCTAATAATTTAATCATTTCTTAGAAAAAGAAATGATTTTTAAAACATGCTACACTTACTATAGATGGAGAACTAATGAATAGGTATAAATACAAGCAACTCAGTACTATTCCAAACACATCAAAGACTTGAGGTGTAAAGCGGAGTTTCAAAATGGCTTTTGGTAGAACATTTAAAATTTAAAGGCTGTTCTTTAATTGCACCCTGAAGGTTGAAATGAAAATCTTACCAGTAGCAATGTGGCTCCAAAAGCAAGGCAAAAAACCATTGGACCTGCCAAATCAGTTTCATTCATGATGCTGCCATCTGCTACTTTTAACGGATGTAATACTGTTAGTGTTTTTTGCCAGATGTGGTCAAAATTGATACCTAACTCTAAAGAGAAAGAAAATTTAAAAGTTAATTAGGATTTGTGATGTATTTTTAATTCATCAAAATCTATCCTGAAACAAG
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TAAAAATGAACAAGAGATACACGTTTACTTTCATTGCTCCAACAGTCAAATGTAAATCTGCATGAGAGTTGCGCTGCAGCAGTTTGCTGGTCCAATTTAAGAGTTCAAGGTCCTTTTTGTACATCTGGCCCACTGATGTCCACATCCCAGATAAATTTTCAAAAGACGGAAATCAGGGCAAAGACTCCATATAACAAAGCGCAAGGATATGCTACTAAAAGTTGCTGTCCTTCCATGGCTAATGCAGAAATAAATATTTTGGAAGCAGAAAAACTACACCATCCAATAATCCCAGCAGTGAGAATGATTCCTACCATTCCTCTGTAAACAACAAGGAAAAAGGGGGGAGAAGAAAAAAAAGCAGATGAGATTAGTTATGTAAGAATACTACAATAACCTATTCTAAAGCATTTTAAATTTACATTTTAAATCTGCAAGTAGACATATGCAAAAATAATCAGGATTTTTTTTTTCAAATGCTAAAATGTACCTCACAGTAAATTCAATGATGGTGAATCATTTCATGGGATAAACAGCTTTTTTAGAACTATGTTTTACTTTTTAAAAATATAAGGTCTCTCATTCTTGGCACTACTGACATTTGGGCTGGATGCTATCTTTGTTGTGGGGGCTGTCCTGTGCACTGTCAGAATGTTCAGCAGCATCCCTGGCCTCTGTACATAAGATATAAGTAGCACCCTTGCCCCCCATCAGACATTGTCAAATGTCCCCTTGGAGGCAAAATTGTTCCTAGTTGAAAAAAGGGTTTTAGTAGAAAATAACTTCTGTAAAATTCAAATATGAATATATAAATTCTTAATAAATAAGAGTGATTTCTACACTGAAAATATGAAATATTTCTATTCAAAGCAGAAATAGTGTAAAGCATCATCTTGCCAAATTTCTTGTATTGGATAAATAATCGACATATTTGTCTCTTCTCCTCCCAAACCTCCACTTTAGCTTTCAAAGTGTAACAAAGCCTGACCACTGGTAATGTCTAACACTAGTCACATGGAGGATTTTATATTGAGACAATCTGCACACTGGCCAAGAGGAGGAACCTTATTGGCGGTAATGTATACCTTTCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTTTCGCTTTTGTTGCCCAGGCTGAAGTATGCAACAGGGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACACAGGCATGTGCTACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTTCATGCTGGTCAGGCTGGTCTCAAACTCCTGACATCAGGTGATCTGCCCGCCTAGGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCAACCGTGCCTGGCCATACCTATCCTTTTAACCTAACCTAAAATATCATTTAAAAATTACACCATATTTAAAGCTGCTTACAAGTACATCTATCTGAGAAACACCGCAGGCTGATAACAGCCTCTTATCATAAAAAGAATACATTTCATTTCCAGTTAGAAAGCTGCCCAATAGAGAGTATGTATTTATTATTCGTACATTTGGCATATGTCCAATGGTTTGAAGAAATTAGGTGGGATCTAGAAAATATCAAAGAGGGTAAGCATAATTTGAACACTAATGACTTGACCTTTTTCATGTAATATTTAATAATTACCCTGTTCAATTTGTTACCACTATGACAATGGTAAGTAAACACAAAACTAGTGAAATTCTTGATCATGAGTAAAATAGAGATGGTATAAAGGTTTTTAAATTTATTCTCATTACCATTGTTCTTCATCCGAAACCATTTGGCACTGTCCCTACTACAAGAGGCACTATCTGATATGTTTGCTGAATCGGTGATTTATCTCAAACTGAAGATGAGGTGAATCCTACTACATAGAATTGGTCAATCAACCCCCAAAATAAAGAACAGTACTTACTGCAAAGAAAATATCACTGCAAAGCTGGAAAGTAGGATCATGGGCAGAAGACAATATCCAAGGACACTTACCACACAACCAAATGAAACACCTGTCATACTCATTAAGTTTAATAAACAAAACATTCCTAGACATCCAATTGCACTGATCCCGTATACATAGCCAAACTGGATTTTGCCAGCCTATGGGTAAAGAAGATTACAGGTTAAAGGGCAAAAAATAAGTTATTTCTGGCCTTATTTCACCTGAATCAGTACATGTAGCAAATAATTTATGAGCATCAAAATCTACTAATCTATCTATTCTTTACGTAGAGAAGTAAAAGACTGAGCAGACTGGCTTGTTACATTCTTTGTAACTTTAAAGTACAGAGATATTTGGTTCTCCATTTTCCAGTTAGTGTGTAGGCTTGGCATAGAAGTGAACAAATAAAGAGACAAAAGCATAGCAGAATCACCCAAAATAGTAAGATTTCTAAAAAGAACTCTGGATGATTTTAGGCAAATAAACTAGAGACAAGATGGAAAGCCGTTCAAAATGTCTAGATAATTGTTATATCAGTTGAAAGTACCTAATTCCACCAAAAATGCCCCAAAGCATTAATTCTCATTGGTGGAGGTAGTCATAATCTTTTTAAGAAGAAATCTTATGATTCACTTTATATGGGTGCTAGAGGAGCAAGGGGAAAGGAAGCCAGGATAAACAGGAAGCCAGGGTTCTGTGAGGAACAGAGAAGAAATGGCAAAAGGAATATAATGGAAGATATTTTTTTCTTTATTTTTCCAAATTATTGGCTGATTTATACATCCCTTTGATTAAGAAAAGACAACAATAAACAGTTTAAGCACTGCAAAGATTAGCTAAATTGGAATTATCCTGTTAGTGAAGTTTGTGAACAAACTTTGTATTCAGGTCACACTATCACTAAAACCAGTTTACAGAAAAGCCTCCAAAAATTATTGATTTATCCAATTTTTGTCACATAAAAAGTAAATTAGGAGAATGCCTCTACAGATTATGTTAAGAAAAAAAATTATTGGGACTTTTATTAGATTATTTGTAAATACTTGATTAAAAATGCAGAAGTTTGAAAAAGCTCAGCTGAGTTCATTGATGAATTAATTCATGTAGTAATAAAAAAACTCACACTTGTACAGTGTTTTTAACTTTTCAATGTGTTCTCACATAACCTGTCTTGTTTCACCTTCAAAATAATCTTGCTAGGTAAGAAGGATAGGATTATTTTCTATGAGAGGAAACTGAAGGATTAAATGATGTGGCCAAAGGCTGATCAGGAGCACTCAGTTCAAGCCCAGCTCTTATGACTAAAAATCCCATCTTCCGTATATTACATTAGTTATCTCTCATAATTCAGAGACATAAGATAAAATAAATATTAACAATTATCTTTACAACTTTTCTGTTTTCAATATGCCTTAACATTCTTGGGAAGGTGATAAATTGGGAAAATAATTATATAGAAAAGTAATCATCAGTATGACTAGAACAAAATATTAACCAAGGTTTAGAGATTTTTAAAAAAATGCTGTCATTAAAAAAAAAAAGCAATAGTGTAAAAACTGTAAGTAACCTCTGAAAAGGCAGAATTCTAATGAGGGACTGAAGCTATACCTGTTGTTTACTATTTTTTTTTTGTTTTTTCCCCTAATAATTTAATCATTTCTTAGAAAAAGAAATGATTTTTAAAACATGCTACACTTACTATAGATGGAGAACTAATGAATAGGTATAAATACAAGCAACTCAGTACTATTCCAAACACATCAAAGACTTGAGGTGTAAAGCGGAGTTTCAAAATGGCTTTTGGTAGAACATTTAAAATTTAAAGGCTGTTCTTTAATTGCACCCTGAAGGTTGAAATGAAAATCTTACCAGTAGCAATGTGGCTCCAAAAGCAAGGCAAAAAACCATTGGACCTGCCAAATCAGTTTCATTCATGATGCTGCCATCTGCTACTTTTAACGGATGTAATACTGTTAGTGTTTTTTGCCAGATGTGGTCAAAATTGATACCTAACTCTAAAGAGAAAGAAAATTTAAAAGTTAATTAGGATTTGTGATGTATTTTTAATTCATCAAAATCTATCCTGAAACAAG
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Subsets and Splits
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