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_23800
|
This variant impacts the gene MYH3 (myosin heavy chain 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Freeman-Sheldon syndrome
|
GGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGG
|
GGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACACACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGG
|
Task1_train_23801
|
This variant lies on Chromosome 17 and affects the gene MYH3 (myosin heavy chain 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Freeman-Sheldon syndrome
|
GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT
|
GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCAGAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT
|
Task1_train_23802
|
Here is a variant affecting MYH3 (myosin heavy chain 3) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Arthrogryposis, distal, type 2B3
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GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT
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GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCAGAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT
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Task1_train_23803
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Here is a variant affecting MYH3 (myosin heavy chain 3) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Freeman-Sheldon syndrome
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GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT
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GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCAGAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT
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Task1_train_23804
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Assess the clinical impact of this variant on gene MYH3 (myosin heavy chain 3), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
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GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT
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GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCAGAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT
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Task1_train_23805
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Given this variant in gene MYH3 (myosin heavy chain 3) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Contractures, pterygia, and variable skeletal fusions syndrome 1B
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GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT
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GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCAGAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTT
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Task1_train_23806
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A genetic alteration is present in MYH3 (myosin heavy chain 3) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Arthrogryposis, distal, type 2B3
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GCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTTGGTAACGTACTCATTCCCAACTTTCACTCTAGGAAAGCACAAAGCTTTTAGGAGGTCCGAAGAGTTCAGGCCCATCAGATAGGCTGTTTTGTCAGCCACTGGCAAGAAAACAAGGACAGTGCTTAGAAAAGTAGAAGAGCTGCTTTGAAAATCATCCAGAAGTTTCAAAGGTTGGTTAAGTTCATCTTGGTACATTGTGCATTCCCTGTGGCTAAACTGCATATACATGGCCAATGGAAGCTAAGTCACTCAGAGAATATAATGGACTTTATGAAAAGCCAGGGCTGGGTCTCAGAAAGCCCTGGTCATCCCTCACTGCATCTGAAACAAGACTATTCGAGTGATTCAGGAAAAGCGAGTGGTAACAATAGCTATGGGCATCGGAGGCCCAGAAAGGGTCATTCACTTCTCCAGATGGAAGGATTAATCGCTTCCATCCATTTTTTTTTTTTTGAGACAGTCTTACTGTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGTGCACTGCAACCTCTGCCTCCTGGGTTCAAGAAACTCTCATGCCGGCAGGGCACAGTGGCTCACACCCGTAATCACAGCACTTTGGGATGCCAAGGCAGGCGAATCATTTGAGGTCAGGAGTTTGAGCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAAGTTAGCCAGGCGCGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGCAGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCTAGCCTGGATGACAGAGCAAAACTCTGTCTGACTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCTCCACCATGCCCAGCTAATTTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGGCCCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTGGATTAATTGCTTTCAAAAGCAGTACCAAGTGACCTCAGCAGATCAGCCACCCGCTCTGGTTTGCTGTCACACTGATTTTGTACCTTCTGTGCCATCCGGCTCGGCCTGCTCCTCTCGCTGCTTCTGCTTGAACTTCATGTTCCCGTAGTGCATCACGGCTCCCGTCAGCTTGTAGAGCCCAGATTTCTCTTCTGGGGTGAAGCCCAGGATGTCAATGGCGCTCTGGCATGGAAAGGGCAGCACGTCAGTCAGTTGGCCCCAGTGATGGAGGAGGAACACCCACCCCTTCTGTTGGTTCCACTTACGTCTGTAGCCAGCAGCTCCTCTGCATCATCTATGCTGGCCACCAGGATCTCCCCCTGGCTAATGAACGGGTAGTCGTAAGGGTTGGTCGTAATAAGCAGCAGCTCTGAAATGACAAATAGTTCCAGGAGGTTATGCAGATGCAAAGAAAAAACCCACCCAGTGGACTTGAGCTCCTGCACCCTGGGCTGGAACTTTTACCGCTGGATCCTAAATTGAACTTAGAATTAAAAATCTTTTAGACAGTTCCACAATACTCAGGCTGTCATGGAAAATATAGTCCAGGGAAGACTTTTCAGTCTCCCACACAATGGAGATGAAGGACCCTAGAGAGAACCTTTAAATTCCCTTGCCTTGCACGCTAATGGTGCATATCAGTGTCGGCTGGGAGAAGTTAATAGGGAAAACTGGCTGAGTGCGGGTCAGGACGAGAGCCAACCCAGGTGGTTTGGTATAATCATAGCCTTTTCTAAAATCTGTTGAAAAGCAGCAGCCTGTTTCCAAGCTGGAGACCAGAAGGCTGAGCAAATACAGCCAAAGAGCAAAGAAGCAGTGTGCATGGAGACCTCTGTGAGGGGCAGACAAGGGGCAGTGTGCAGTGCCTCCGTGGGCTTGATTATTCTGTTTGCTTTGGCGTCGCATTTGGCCATAGGTTGTTTCTGTGCCAGAACACAAGGGGGCGCCAAAGGACAGTTAGGTGTTCAGTTGCTCAGAAGGTTTTTATAAACCAGAGCTGGTCAGGAGTGGTCTAATCTTGTTGCCCTCCATTTGATTAGGTTTTCAAATTGGCATGTCACTGCCCAGA
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GCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTTGGTAACGTACTCATTCCCAACTTTCACTCTAGGAAAGCACAAAGCTTTTAGGAGGTCCGAAGAGTTCAGGCCCATCAGACAGGCTGTTTTGTCAGCCACTGGCAAGAAAACAAGGACAGTGCTTAGAAAAGTAGAAGAGCTGCTTTGAAAATCATCCAGAAGTTTCAAAGGTTGGTTAAGTTCATCTTGGTACATTGTGCATTCCCTGTGGCTAAACTGCATATACATGGCCAATGGAAGCTAAGTCACTCAGAGAATATAATGGACTTTATGAAAAGCCAGGGCTGGGTCTCAGAAAGCCCTGGTCATCCCTCACTGCATCTGAAACAAGACTATTCGAGTGATTCAGGAAAAGCGAGTGGTAACAATAGCTATGGGCATCGGAGGCCCAGAAAGGGTCATTCACTTCTCCAGATGGAAGGATTAATCGCTTCCATCCATTTTTTTTTTTTTGAGACAGTCTTACTGTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGTGCACTGCAACCTCTGCCTCCTGGGTTCAAGAAACTCTCATGCCGGCAGGGCACAGTGGCTCACACCCGTAATCACAGCACTTTGGGATGCCAAGGCAGGCGAATCATTTGAGGTCAGGAGTTTGAGCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAAGTTAGCCAGGCGCGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGCAGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCTAGCCTGGATGACAGAGCAAAACTCTGTCTGACTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCTCCACCATGCCCAGCTAATTTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGGCCCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTGGATTAATTGCTTTCAAAAGCAGTACCAAGTGACCTCAGCAGATCAGCCACCCGCTCTGGTTTGCTGTCACACTGATTTTGTACCTTCTGTGCCATCCGGCTCGGCCTGCTCCTCTCGCTGCTTCTGCTTGAACTTCATGTTCCCGTAGTGCATCACGGCTCCCGTCAGCTTGTAGAGCCCAGATTTCTCTTCTGGGGTGAAGCCCAGGATGTCAATGGCGCTCTGGCATGGAAAGGGCAGCACGTCAGTCAGTTGGCCCCAGTGATGGAGGAGGAACACCCACCCCTTCTGTTGGTTCCACTTACGTCTGTAGCCAGCAGCTCCTCTGCATCATCTATGCTGGCCACCAGGATCTCCCCCTGGCTAATGAACGGGTAGTCGTAAGGGTTGGTCGTAATAAGCAGCAGCTCTGAAATGACAAATAGTTCCAGGAGGTTATGCAGATGCAAAGAAAAAACCCACCCAGTGGACTTGAGCTCCTGCACCCTGGGCTGGAACTTTTACCGCTGGATCCTAAATTGAACTTAGAATTAAAAATCTTTTAGACAGTTCCACAATACTCAGGCTGTCATGGAAAATATAGTCCAGGGAAGACTTTTCAGTCTCCCACACAATGGAGATGAAGGACCCTAGAGAGAACCTTTAAATTCCCTTGCCTTGCACGCTAATGGTGCATATCAGTGTCGGCTGGGAGAAGTTAATAGGGAAAACTGGCTGAGTGCGGGTCAGGACGAGAGCCAACCCAGGTGGTTTGGTATAATCATAGCCTTTTCTAAAATCTGTTGAAAAGCAGCAGCCTGTTTCCAAGCTGGAGACCAGAAGGCTGAGCAAATACAGCCAAAGAGCAAAGAAGCAGTGTGCATGGAGACCTCTGTGAGGGGCAGACAAGGGGCAGTGTGCAGTGCCTCCGTGGGCTTGATTATTCTGTTTGCTTTGGCGTCGCATTTGGCCATAGGTTGTTTCTGTGCCAGAACACAAGGGGGCGCCAAAGGACAGTTAGGTGTTCAGTTGCTCAGAAGGTTTTTATAAACCAGAGCTGGTCAGGAGTGGTCTAATCTTGTTGCCCTCCATTTGATTAGGTTTTCAAATTGGCATGTCACTGCCCAGA
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Task1_train_23807
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Consider this mutation in MYH3 (myosin heavy chain 3) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; Freeman-Sheldon syndrome
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GAGAGGTCTTCCCTGCCCACCCTGCCTAAAGCAAGCCTGGCCCCCAGTTCCTCTCTTACACACGCTGTTCATTGAACTTGGTCTGAATTTATCTTTATCTGAAATGGTCTTGTTGGGTTGTTTTGTTTTTCATCATCTGTTGCCTCTGGTCTCTACACTCTTTGAGGACAGGGCTCTTGCCTATTTTGTGAGGCACAAAGCAAATTCCATCTTAACCAAACTCAGACTCACAAAACGGGAGGAGTTGTCATTCCTCACAGTCTTGGCGTTCCCAAAGGCCTCCAGCAGGGGATTGGCACTGATGATTTGATCTTCCAGAGTCCCCTAATGCAAGAAATTGAGGGAAGAAGAGGAAACATTTTTTTTTGAGATGGAGTTACACTCTTGTTGCCCAGGCTGCAGTGCAATGGCACGATCTTGGCTTACTGCAACCTCCACCTCCCGGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATATTGGTCAGGTTGGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCAGCCTGAGGAAACATGTTTTTAAGCCACAGAATGACAGTAAAAAATGCTCACCCACTCTGTGACTCTGGCTTGCCCTGATAAAGCCCCACCCTCCTTGACTTTCCAATCCTAGGACCAACCAAATCAGCAGCATGTCTTACTCAAAACACTTTTGCCATTTTGTTATATTTGGCACTACAGTTGGGGATCTCTTGACTGAGCATTCCTTTAACACTTCAATCCCTTGATTCTCCAGTCAGTTGTCCGTATTCATTTCATGCTGCTGTAATACATTTGTTTCAAAAGCCCAGGATATGCTGTGAGTCACTCACATTGGTATATGTGATTCTTCCACAAAAGAACAAGCTCTCTGAGCCGTCTGCAGATTGACCTCTGAAGTTTAGCCCTAGAGCCTTGTCTTCTAAGAAATCCCGGGATCTAGTCCTACAAGACCAACTTGACACTGCGTTGTCTAAGGTGACTGGCTGTCCTTCAAGATAGTAAATCCTAGCCTGTTCTCCATTCTCTGAAGAGGGGGGAATGTGAGGACATTTGGCCCCCTCATTCTGAGGTTAAGACCACAGTTAAAAGTGGAAGCAAAGCAAGCCTTCCTCTCCCATCTATACCTTCATTTTGGAGTCCTTCTTCTTGGCCAGGTCCCCAGTAGCTGCAATTGTTGCAAAGTACTGGATGACCCGTTTGGTGTTCACAGTCTTTCCTGCCCCGGATTCTCCGCTGTACAGAGTGATCAAAAGAGAGAGAAAGAAACAAGTCTGTTAGTATAAACAGGCTTTTCAGGATGTCATACTGAGGCCTGGGCATGGTCTGAGCCATCTCTGACACACACTCACCACACTAATGTGACAGACCACTTGAGAAGGCAGACGCCCAGGGCACAGGTGCCACAGGCACTTGCTCAGCTGACCCAAGGATGGGTAATTCCATTTTTCTGAGGCCTTATGCAGACCTTCCTCCCCATCCCCAAATCGATCTTTTTATTTTTTATTTATTTATTTTTCTCTTTTATTTTTTATTTTTTGAGACAGAATCTCACTCTGCTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGGCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGACTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTGTATTTTTTTTAGTAGAGGCAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGGACCTCGTGATCCGCCCATCTCAGCCTACCAAAGTGCTGGGATTACAGGTGTCAGCCACCGCGCCCAGCCTGATCTTTTTATTATAGACTCTGCTCCAAACACTTTCTAATGAACAGAATAGAGCCAGTGGCACAGCTATGAAACCACTCTATGCCATGGATACTTACGTGATCAGAATGGACTGGTTTTCACGATCTGCCAGAGGAAAAAATAAAATAGAGTTGATGGCAATAGAAAAAGAGCTTCCCGATTCTACCCAACTCTCAAGTAGCCAGAGTTAAATTGCACAATTCCTCTTCCTTTACATTTTTTGTTTAGCCTTTAGGTGGGAATCTGAAGAGCCTCCATCTGCTTTTTATTTTATTTTATTTTTAATTGACAAACAATATTTGTATATATTTGTAGGGTACAACATGATGATTTGATATATGTTTATATGGCAGAATGATTAAATCAAGCTAATTAACAAATCCGTCACCTCACATACTTATTTTTTTGTGGAGAAAACATTTAAAATATACTATTTTAGGGATTTTGAAATATACAATGCATTATTACTTATCGGAGTCACCATTCTATGGGACAGATCACCAGCACCGATTTCTCCTTTCCAGCTGTATCCTTTGGTCAATATCGAAAGCCTCCTTCTTGAGACTGAGACTCAGAGAGGGCAAGTCTCCACTCAGAATCAGCCAGTGGCAGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGTGGCAGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGACCCCTGTCTCTATTAAAAATATAAAAATAGCCGGACATGGTGGTGCATACCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACATAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAACCAGCCAGTGGCTTCTCATCGTTCTTGCTGTATTAGGCTGAACTATATAAAATGATCAGTTTTTGGTTTTGATCCATGAAAACATCCATATCCGTTTTGCATATTCTAACTTGCATTAAATCCAAAACTCGTCACCTTGGCATGCGGGGCCCTACATGATGCAGCCCCTTTCTGCCTCTTTTGGCTCCTTCTTCCTCCTTTCCCTGTGCTAAACACCAGATGGGGTCCAGCCTGGGAGTAAGGGGCAACTGCCGCTCGCCTCATGCAGTGCCTGCTCCAGCATCCCATGCTTCCTCCTGGGAAACTCACCAGTCAGCATGAACTGATAGGCGTTGTCAGAGATGGAGAAGATGTGGGGTGGGGCCTCCTGGCGCTTTTTGCCTCGGTAGCCTTCCACCACCTCGGGGTTGTACACCGGCAGCCACTTGTAGGGGTTGACAGTGACACAGAAGAGGCCTGAGTAGGTCTGTGGGAGGAAAAACATATACGTGCGTATATGTATGTATGTGCATATGGAAAACCCCTTGCCTTTATTATTATTATTGTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACATGCCATCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGAATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTTACCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCACACCCAGCTGCCTTTATTATTATCTCATGTTTCTTTGGGATAAACTTATAAAGGGGGGAGGCTACCATTCCTATTTATAGTGAGGCACTGAGACTCAAAAAGGGGAGTGGCGACCCTCCCACAGTTGGTAAGTCACAGCACCCCGTGACCAAGCCTGGCCCCAGCTTCCCCGCTCTCCGGCTCCTGGTCCTCCTTCCCACCTTCCTTCTTCCTGCCCCATCCACCTCTTGCTTTCTTGCCTTCTTTCTCCTCCGTCTTTGTGTTTTGTTCATCAGCTAGGCAAGCACTCATCTTCCAGAATCCCACGGCCCACACACATACCTCTGCCTCCCTCCCCTGCCCGCATATCTAATGCCCCAGGGAAACCACGTCGAAAGCCCTCGCTGACAT
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GAGAGGTCTTCCCTGCCCACCCTGCCTAAAGCAAGCCTGGCCCCCAGTTCCTCTCTTACACACGCTGTTCATTGAACTTGGTCTGAATTTATCTTTATCTGAAATGGTCTTGTTGGGTTGTTTTGTTTTTCATCATCTGTTGCCTCTGGTCTCTACACTCTTTGAGGACAGGGCTCTTGCCTATTTTGTGAGGCACAAAGCAAATTCCATCTTAACCAAACTCAGACTCACAAAACGGGAGGAGTTGTCATTCCTCACAGTCTTGGCGTTCCCAAAGGCCTCCAGCAGGGGATTGGCACTGATGATTTGATCTTCCAGAGTCCCCTAATGCAAGAAATTGAGGGAAGAAGAGGAAACATTTTTTTTTGAGATGGAGTTACACTCTTGTTGCCCAGGCTGCAGTGCAATGGCACGATCTTGGCTTACTGCAACCTCCACCTCCCGGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATATTGGTCAGGTTGGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCAGCCTGAGGAAACATGTTTTTAAGCCACAGAATGACAGTAAAAAATGCTCACCCACTCTGTGACTCTGGCTTGCCCTGATAAAGCCCCACCCTCCTTGACTTTCCAATCCTAGGACCAACCAAATCAGCAGCATGTCTTACTCAAAACACTTTTGCCATTTTGTTATATTTGGCACTACAGTTGGGGATCTCTTGACTGAGCATTCCTTTAACACTTCAATCCCTTGATTCTCCAGTCAGTTGTCCGTATTCATTTCATGCTGCTGTAATACATTTGTTTCAAAAGCCCAGGATATGCTGTGAGTCACTCACATTGGTATATGTGATTCTTCCACAAAAGAACAAGCTCTCTGAGCCGTCTGCAGATTGACCTCTGAAGTTTAGCCCTAGAGCCTTGTCTTCTAAGAAATCCCGGGATCTAGTCCTACAAGACCAACTTGACACTGCGTTGTCTAAGGTGACTGGCTGTCCTTCAAGATAGTAAATCCTAGCCTGTTCTCCATTCTCTGAAGAGGGGGGAATGTGAGGACATTTGGCCCCCTCATTCTGAGGTTAAGACCACAGTTAAAAGTGGAAGCAAAGCAAGCCTTCCTCTCCCATCTATACCTTCATTTTGGAGTCCTTCTTCTTGGCCAGGTCCCCAGTAGCTGCAATTGTTGCAAAGTACTGGATGACCCGTTTGGTGTTCACAGTCTTTCCTGCCCCGGATTCTCCGCTGTACAGAGTGATCAAAAGAGAGAGAAAGAAACAAGTCTGTTAGTATAAACAGGCTTTTCAGGATGTCATACTGAGGCCTGGGCATGGTCTGAGCCATCTCTGACACACACTCACCACACTAATGTGACAGACCACTTGAGAAGGCAGACGCCCAGGGCACAGGTGCCACAGGCACTTGCTCAGCTGACCCAAGGATGGGTAATTCCATTTTTCTGAGGCCTTATGCAGACCTTCCTCCCCATCCCCAAATCGATCTTTTTATTTTTTATTTATTTATTTTTCTCTTTTATTTTTTATTTTTTGAGACAGAATCTCACTCTGCTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGGCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGACTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTGTATTTTTTTTAGTAGAGGCAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGGACCTCGTGATCCGCCCATCTCAGCCTACCAAAGTGCTGGGATTACAGGTGTCAGCCACCGCGCCCAGCCTGATCTTTTTATTATAGACTCTGCTCCAAACACTTTCTAATGAACAGAATAGAGCCAGTGGCACAGCTATGAAACCACTCTATGCCATGGATACTTACATGATCAGAATGGACTGGTTTTCACGATCTGCCAGAGGAAAAAATAAAATAGAGTTGATGGCAATAGAAAAAGAGCTTCCCGATTCTACCCAACTCTCAAGTAGCCAGAGTTAAATTGCACAATTCCTCTTCCTTTACATTTTTTGTTTAGCCTTTAGGTGGGAATCTGAAGAGCCTCCATCTGCTTTTTATTTTATTTTATTTTTAATTGACAAACAATATTTGTATATATTTGTAGGGTACAACATGATGATTTGATATATGTTTATATGGCAGAATGATTAAATCAAGCTAATTAACAAATCCGTCACCTCACATACTTATTTTTTTGTGGAGAAAACATTTAAAATATACTATTTTAGGGATTTTGAAATATACAATGCATTATTACTTATCGGAGTCACCATTCTATGGGACAGATCACCAGCACCGATTTCTCCTTTCCAGCTGTATCCTTTGGTCAATATCGAAAGCCTCCTTCTTGAGACTGAGACTCAGAGAGGGCAAGTCTCCACTCAGAATCAGCCAGTGGCAGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGTGGCAGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGACCCCTGTCTCTATTAAAAATATAAAAATAGCCGGACATGGTGGTGCATACCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACATAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAACCAGCCAGTGGCTTCTCATCGTTCTTGCTGTATTAGGCTGAACTATATAAAATGATCAGTTTTTGGTTTTGATCCATGAAAACATCCATATCCGTTTTGCATATTCTAACTTGCATTAAATCCAAAACTCGTCACCTTGGCATGCGGGGCCCTACATGATGCAGCCCCTTTCTGCCTCTTTTGGCTCCTTCTTCCTCCTTTCCCTGTGCTAAACACCAGATGGGGTCCAGCCTGGGAGTAAGGGGCAACTGCCGCTCGCCTCATGCAGTGCCTGCTCCAGCATCCCATGCTTCCTCCTGGGAAACTCACCAGTCAGCATGAACTGATAGGCGTTGTCAGAGATGGAGAAGATGTGGGGTGGGGCCTCCTGGCGCTTTTTGCCTCGGTAGCCTTCCACCACCTCGGGGTTGTACACCGGCAGCCACTTGTAGGGGTTGACAGTGACACAGAAGAGGCCTGAGTAGGTCTGTGGGAGGAAAAACATATACGTGCGTATATGTATGTATGTGCATATGGAAAACCCCTTGCCTTTATTATTATTATTGTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACATGCCATCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGAATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTTACCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCACACCCAGCTGCCTTTATTATTATCTCATGTTTCTTTGGGATAAACTTATAAAGGGGGGAGGCTACCATTCCTATTTATAGTGAGGCACTGAGACTCAAAAAGGGGAGTGGCGACCCTCCCACAGTTGGTAAGTCACAGCACCCCGTGACCAAGCCTGGCCCCAGCTTCCCCGCTCTCCGGCTCCTGGTCCTCCTTCCCACCTTCCTTCTTCCTGCCCCATCCACCTCTTGCTTTCTTGCCTTCTTTCTCCTCCGTCTTTGTGTTTTGTTCATCAGCTAGGCAAGCACTCATCTTCCAGAATCCCACGGCCCACACACATACCTCTGCCTCCCTCCCCTGCCCGCATATCTAATGCCCCAGGGAAACCACGTCGAAAGCCCTCGCTGACAT
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Task1_train_23808
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This alteration in MYH3 (myosin heavy chain 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; MYH3-related disorder
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GAGAGGTCTTCCCTGCCCACCCTGCCTAAAGCAAGCCTGGCCCCCAGTTCCTCTCTTACACACGCTGTTCATTGAACTTGGTCTGAATTTATCTTTATCTGAAATGGTCTTGTTGGGTTGTTTTGTTTTTCATCATCTGTTGCCTCTGGTCTCTACACTCTTTGAGGACAGGGCTCTTGCCTATTTTGTGAGGCACAAAGCAAATTCCATCTTAACCAAACTCAGACTCACAAAACGGGAGGAGTTGTCATTCCTCACAGTCTTGGCGTTCCCAAAGGCCTCCAGCAGGGGATTGGCACTGATGATTTGATCTTCCAGAGTCCCCTAATGCAAGAAATTGAGGGAAGAAGAGGAAACATTTTTTTTTGAGATGGAGTTACACTCTTGTTGCCCAGGCTGCAGTGCAATGGCACGATCTTGGCTTACTGCAACCTCCACCTCCCGGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATATTGGTCAGGTTGGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCAGCCTGAGGAAACATGTTTTTAAGCCACAGAATGACAGTAAAAAATGCTCACCCACTCTGTGACTCTGGCTTGCCCTGATAAAGCCCCACCCTCCTTGACTTTCCAATCCTAGGACCAACCAAATCAGCAGCATGTCTTACTCAAAACACTTTTGCCATTTTGTTATATTTGGCACTACAGTTGGGGATCTCTTGACTGAGCATTCCTTTAACACTTCAATCCCTTGATTCTCCAGTCAGTTGTCCGTATTCATTTCATGCTGCTGTAATACATTTGTTTCAAAAGCCCAGGATATGCTGTGAGTCACTCACATTGGTATATGTGATTCTTCCACAAAAGAACAAGCTCTCTGAGCCGTCTGCAGATTGACCTCTGAAGTTTAGCCCTAGAGCCTTGTCTTCTAAGAAATCCCGGGATCTAGTCCTACAAGACCAACTTGACACTGCGTTGTCTAAGGTGACTGGCTGTCCTTCAAGATAGTAAATCCTAGCCTGTTCTCCATTCTCTGAAGAGGGGGGAATGTGAGGACATTTGGCCCCCTCATTCTGAGGTTAAGACCACAGTTAAAAGTGGAAGCAAAGCAAGCCTTCCTCTCCCATCTATACCTTCATTTTGGAGTCCTTCTTCTTGGCCAGGTCCCCAGTAGCTGCAATTGTTGCAAAGTACTGGATGACCCGTTTGGTGTTCACAGTCTTTCCTGCCCCGGATTCTCCGCTGTACAGAGTGATCAAAAGAGAGAGAAAGAAACAAGTCTGTTAGTATAAACAGGCTTTTCAGGATGTCATACTGAGGCCTGGGCATGGTCTGAGCCATCTCTGACACACACTCACCACACTAATGTGACAGACCACTTGAGAAGGCAGACGCCCAGGGCACAGGTGCCACAGGCACTTGCTCAGCTGACCCAAGGATGGGTAATTCCATTTTTCTGAGGCCTTATGCAGACCTTCCTCCCCATCCCCAAATCGATCTTTTTATTTTTTATTTATTTATTTTTCTCTTTTATTTTTTATTTTTTGAGACAGAATCTCACTCTGCTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGGCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGACTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTGTATTTTTTTTAGTAGAGGCAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGGACCTCGTGATCCGCCCATCTCAGCCTACCAAAGTGCTGGGATTACAGGTGTCAGCCACCGCGCCCAGCCTGATCTTTTTATTATAGACTCTGCTCCAAACACTTTCTAATGAACAGAATAGAGCCAGTGGCACAGCTATGAAACCACTCTATGCCATGGATACTTACGTGATCAGAATGGACTGGTTTTCACGATCTGCCAGAGGAAAAAATAAAATAGAGTTGATGGCAATAGAAAAAGAGCTTCCCGATTCTACCCAACTCTCAAGTAGCCAGAGTTAAATTGCACAATTCCTCTTCCTTTACATTTTTTGTTTAGCCTTTAGGTGGGAATCTGAAGAGCCTCCATCTGCTTTTTATTTTATTTTATTTTTAATTGACAAACAATATTTGTATATATTTGTAGGGTACAACATGATGATTTGATATATGTTTATATGGCAGAATGATTAAATCAAGCTAATTAACAAATCCGTCACCTCACATACTTATTTTTTTGTGGAGAAAACATTTAAAATATACTATTTTAGGGATTTTGAAATATACAATGCATTATTACTTATCGGAGTCACCATTCTATGGGACAGATCACCAGCACCGATTTCTCCTTTCCAGCTGTATCCTTTGGTCAATATCGAAAGCCTCCTTCTTGAGACTGAGACTCAGAGAGGGCAAGTCTCCACTCAGAATCAGCCAGTGGCAGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGTGGCAGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGACCCCTGTCTCTATTAAAAATATAAAAATAGCCGGACATGGTGGTGCATACCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACATAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAACCAGCCAGTGGCTTCTCATCGTTCTTGCTGTATTAGGCTGAACTATATAAAATGATCAGTTTTTGGTTTTGATCCATGAAAACATCCATATCCGTTTTGCATATTCTAACTTGCATTAAATCCAAAACTCGTCACCTTGGCATGCGGGGCCCTACATGATGCAGCCCCTTTCTGCCTCTTTTGGCTCCTTCTTCCTCCTTTCCCTGTGCTAAACACCAGATGGGGTCCAGCCTGGGAGTAAGGGGCAACTGCCGCTCGCCTCATGCAGTGCCTGCTCCAGCATCCCATGCTTCCTCCTGGGAAACTCACCAGTCAGCATGAACTGATAGGCGTTGTCAGAGATGGAGAAGATGTGGGGTGGGGCCTCCTGGCGCTTTTTGCCTCGGTAGCCTTCCACCACCTCGGGGTTGTACACCGGCAGCCACTTGTAGGGGTTGACAGTGACACAGAAGAGGCCTGAGTAGGTCTGTGGGAGGAAAAACATATACGTGCGTATATGTATGTATGTGCATATGGAAAACCCCTTGCCTTTATTATTATTATTGTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACATGCCATCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGAATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTTACCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCACACCCAGCTGCCTTTATTATTATCTCATGTTTCTTTGGGATAAACTTATAAAGGGGGGAGGCTACCATTCCTATTTATAGTGAGGCACTGAGACTCAAAAAGGGGAGTGGCGACCCTCCCACAGTTGGTAAGTCACAGCACCCCGTGACCAAGCCTGGCCCCAGCTTCCCCGCTCTCCGGCTCCTGGTCCTCCTTCCCACCTTCCTTCTTCCTGCCCCATCCACCTCTTGCTTTCTTGCCTTCTTTCTCCTCCGTCTTTGTGTTTTGTTCATCAGCTAGGCAAGCACTCATCTTCCAGAATCCCACGGCCCACACACATACCTCTGCCTCCCTCCCCTGCCCGCATATCTAATGCCCCAGGGAAACCACGTCGAAAGCCCTCGCTGACAT
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GAGAGGTCTTCCCTGCCCACCCTGCCTAAAGCAAGCCTGGCCCCCAGTTCCTCTCTTACACACGCTGTTCATTGAACTTGGTCTGAATTTATCTTTATCTGAAATGGTCTTGTTGGGTTGTTTTGTTTTTCATCATCTGTTGCCTCTGGTCTCTACACTCTTTGAGGACAGGGCTCTTGCCTATTTTGTGAGGCACAAAGCAAATTCCATCTTAACCAAACTCAGACTCACAAAACGGGAGGAGTTGTCATTCCTCACAGTCTTGGCGTTCCCAAAGGCCTCCAGCAGGGGATTGGCACTGATGATTTGATCTTCCAGAGTCCCCTAATGCAAGAAATTGAGGGAAGAAGAGGAAACATTTTTTTTTGAGATGGAGTTACACTCTTGTTGCCCAGGCTGCAGTGCAATGGCACGATCTTGGCTTACTGCAACCTCCACCTCCCGGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATATTGGTCAGGTTGGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCAGCCTGAGGAAACATGTTTTTAAGCCACAGAATGACAGTAAAAAATGCTCACCCACTCTGTGACTCTGGCTTGCCCTGATAAAGCCCCACCCTCCTTGACTTTCCAATCCTAGGACCAACCAAATCAGCAGCATGTCTTACTCAAAACACTTTTGCCATTTTGTTATATTTGGCACTACAGTTGGGGATCTCTTGACTGAGCATTCCTTTAACACTTCAATCCCTTGATTCTCCAGTCAGTTGTCCGTATTCATTTCATGCTGCTGTAATACATTTGTTTCAAAAGCCCAGGATATGCTGTGAGTCACTCACATTGGTATATGTGATTCTTCCACAAAAGAACAAGCTCTCTGAGCCGTCTGCAGATTGACCTCTGAAGTTTAGCCCTAGAGCCTTGTCTTCTAAGAAATCCCGGGATCTAGTCCTACAAGACCAACTTGACACTGCGTTGTCTAAGGTGACTGGCTGTCCTTCAAGATAGTAAATCCTAGCCTGTTCTCCATTCTCTGAAGAGGGGGGAATGTGAGGACATTTGGCCCCCTCATTCTGAGGTTAAGACCACAGTTAAAAGTGGAAGCAAAGCAAGCCTTCCTCTCCCATCTATACCTTCATTTTGGAGTCCTTCTTCTTGGCCAGGTCCCCAGTAGCTGCAATTGTTGCAAAGTACTGGATGACCCGTTTGGTGTTCACAGTCTTTCCTGCCCCGGATTCTCCGCTGTACAGAGTGATCAAAAGAGAGAGAAAGAAACAAGTCTGTTAGTATAAACAGGCTTTTCAGGATGTCATACTGAGGCCTGGGCATGGTCTGAGCCATCTCTGACACACACTCACCACACTAATGTGACAGACCACTTGAGAAGGCAGACGCCCAGGGCACAGGTGCCACAGGCACTTGCTCAGCTGACCCAAGGATGGGTAATTCCATTTTTCTGAGGCCTTATGCAGACCTTCCTCCCCATCCCCAAATCGATCTTTTTATTTTTTATTTATTTATTTTTCTCTTTTATTTTTTATTTTTTGAGACAGAATCTCACTCTGCTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGGCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGACTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTGTATTTTTTTTAGTAGAGGCAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGGACCTCGTGATCCGCCCATCTCAGCCTACCAAAGTGCTGGGATTACAGGTGTCAGCCACCGCGCCCAGCCTGATCTTTTTATTATAGACTCTGCTCCAAACACTTTCTAATGAACAGAATAGAGCCAGTGGCACAGCTATGAAACCACTCTATGCCATGGATACTTACATGATCAGAATGGACTGGTTTTCACGATCTGCCAGAGGAAAAAATAAAATAGAGTTGATGGCAATAGAAAAAGAGCTTCCCGATTCTACCCAACTCTCAAGTAGCCAGAGTTAAATTGCACAATTCCTCTTCCTTTACATTTTTTGTTTAGCCTTTAGGTGGGAATCTGAAGAGCCTCCATCTGCTTTTTATTTTATTTTATTTTTAATTGACAAACAATATTTGTATATATTTGTAGGGTACAACATGATGATTTGATATATGTTTATATGGCAGAATGATTAAATCAAGCTAATTAACAAATCCGTCACCTCACATACTTATTTTTTTGTGGAGAAAACATTTAAAATATACTATTTTAGGGATTTTGAAATATACAATGCATTATTACTTATCGGAGTCACCATTCTATGGGACAGATCACCAGCACCGATTTCTCCTTTCCAGCTGTATCCTTTGGTCAATATCGAAAGCCTCCTTCTTGAGACTGAGACTCAGAGAGGGCAAGTCTCCACTCAGAATCAGCCAGTGGCAGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGTGGCAGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGACCCCTGTCTCTATTAAAAATATAAAAATAGCCGGACATGGTGGTGCATACCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACATAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAACCAGCCAGTGGCTTCTCATCGTTCTTGCTGTATTAGGCTGAACTATATAAAATGATCAGTTTTTGGTTTTGATCCATGAAAACATCCATATCCGTTTTGCATATTCTAACTTGCATTAAATCCAAAACTCGTCACCTTGGCATGCGGGGCCCTACATGATGCAGCCCCTTTCTGCCTCTTTTGGCTCCTTCTTCCTCCTTTCCCTGTGCTAAACACCAGATGGGGTCCAGCCTGGGAGTAAGGGGCAACTGCCGCTCGCCTCATGCAGTGCCTGCTCCAGCATCCCATGCTTCCTCCTGGGAAACTCACCAGTCAGCATGAACTGATAGGCGTTGTCAGAGATGGAGAAGATGTGGGGTGGGGCCTCCTGGCGCTTTTTGCCTCGGTAGCCTTCCACCACCTCGGGGTTGTACACCGGCAGCCACTTGTAGGGGTTGACAGTGACACAGAAGAGGCCTGAGTAGGTCTGTGGGAGGAAAAACATATACGTGCGTATATGTATGTATGTGCATATGGAAAACCCCTTGCCTTTATTATTATTATTGTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACATGCCATCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGAATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTTACCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCACACCCAGCTGCCTTTATTATTATCTCATGTTTCTTTGGGATAAACTTATAAAGGGGGGAGGCTACCATTCCTATTTATAGTGAGGCACTGAGACTCAAAAAGGGGAGTGGCGACCCTCCCACAGTTGGTAAGTCACAGCACCCCGTGACCAAGCCTGGCCCCAGCTTCCCCGCTCTCCGGCTCCTGGTCCTCCTTCCCACCTTCCTTCTTCCTGCCCCATCCACCTCTTGCTTTCTTGCCTTCTTTCTCCTCCGTCTTTGTGTTTTGTTCATCAGCTAGGCAAGCACTCATCTTCCAGAATCCCACGGCCCACACACATACCTCTGCCTCCCTCCCCTGCCCGCATATCTAATGCCCCAGGGAAACCACGTCGAAAGCCCTCGCTGACAT
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Task1_train_23809
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This mutation is located in gene MYH3 (myosin heavy chain 3) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Arthrogryposis, distal, type 2B3
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GAGAGGTCTTCCCTGCCCACCCTGCCTAAAGCAAGCCTGGCCCCCAGTTCCTCTCTTACACACGCTGTTCATTGAACTTGGTCTGAATTTATCTTTATCTGAAATGGTCTTGTTGGGTTGTTTTGTTTTTCATCATCTGTTGCCTCTGGTCTCTACACTCTTTGAGGACAGGGCTCTTGCCTATTTTGTGAGGCACAAAGCAAATTCCATCTTAACCAAACTCAGACTCACAAAACGGGAGGAGTTGTCATTCCTCACAGTCTTGGCGTTCCCAAAGGCCTCCAGCAGGGGATTGGCACTGATGATTTGATCTTCCAGAGTCCCCTAATGCAAGAAATTGAGGGAAGAAGAGGAAACATTTTTTTTTGAGATGGAGTTACACTCTTGTTGCCCAGGCTGCAGTGCAATGGCACGATCTTGGCTTACTGCAACCTCCACCTCCCGGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATATTGGTCAGGTTGGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCAGCCTGAGGAAACATGTTTTTAAGCCACAGAATGACAGTAAAAAATGCTCACCCACTCTGTGACTCTGGCTTGCCCTGATAAAGCCCCACCCTCCTTGACTTTCCAATCCTAGGACCAACCAAATCAGCAGCATGTCTTACTCAAAACACTTTTGCCATTTTGTTATATTTGGCACTACAGTTGGGGATCTCTTGACTGAGCATTCCTTTAACACTTCAATCCCTTGATTCTCCAGTCAGTTGTCCGTATTCATTTCATGCTGCTGTAATACATTTGTTTCAAAAGCCCAGGATATGCTGTGAGTCACTCACATTGGTATATGTGATTCTTCCACAAAAGAACAAGCTCTCTGAGCCGTCTGCAGATTGACCTCTGAAGTTTAGCCCTAGAGCCTTGTCTTCTAAGAAATCCCGGGATCTAGTCCTACAAGACCAACTTGACACTGCGTTGTCTAAGGTGACTGGCTGTCCTTCAAGATAGTAAATCCTAGCCTGTTCTCCATTCTCTGAAGAGGGGGGAATGTGAGGACATTTGGCCCCCTCATTCTGAGGTTAAGACCACAGTTAAAAGTGGAAGCAAAGCAAGCCTTCCTCTCCCATCTATACCTTCATTTTGGAGTCCTTCTTCTTGGCCAGGTCCCCAGTAGCTGCAATTGTTGCAAAGTACTGGATGACCCGTTTGGTGTTCACAGTCTTTCCTGCCCCGGATTCTCCGCTGTACAGAGTGATCAAAAGAGAGAGAAAGAAACAAGTCTGTTAGTATAAACAGGCTTTTCAGGATGTCATACTGAGGCCTGGGCATGGTCTGAGCCATCTCTGACACACACTCACCACACTAATGTGACAGACCACTTGAGAAGGCAGACGCCCAGGGCACAGGTGCCACAGGCACTTGCTCAGCTGACCCAAGGATGGGTAATTCCATTTTTCTGAGGCCTTATGCAGACCTTCCTCCCCATCCCCAAATCGATCTTTTTATTTTTTATTTATTTATTTTTCTCTTTTATTTTTTATTTTTTGAGACAGAATCTCACTCTGCTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGGCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGACTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTGTATTTTTTTTAGTAGAGGCAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGGACCTCGTGATCCGCCCATCTCAGCCTACCAAAGTGCTGGGATTACAGGTGTCAGCCACCGCGCCCAGCCTGATCTTTTTATTATAGACTCTGCTCCAAACACTTTCTAATGAACAGAATAGAGCCAGTGGCACAGCTATGAAACCACTCTATGCCATGGATACTTACGTGATCAGAATGGACTGGTTTTCACGATCTGCCAGAGGAAAAAATAAAATAGAGTTGATGGCAATAGAAAAAGAGCTTCCCGATTCTACCCAACTCTCAAGTAGCCAGAGTTAAATTGCACAATTCCTCTTCCTTTACATTTTTTGTTTAGCCTTTAGGTGGGAATCTGAAGAGCCTCCATCTGCTTTTTATTTTATTTTATTTTTAATTGACAAACAATATTTGTATATATTTGTAGGGTACAACATGATGATTTGATATATGTTTATATGGCAGAATGATTAAATCAAGCTAATTAACAAATCCGTCACCTCACATACTTATTTTTTTGTGGAGAAAACATTTAAAATATACTATTTTAGGGATTTTGAAATATACAATGCATTATTACTTATCGGAGTCACCATTCTATGGGACAGATCACCAGCACCGATTTCTCCTTTCCAGCTGTATCCTTTGGTCAATATCGAAAGCCTCCTTCTTGAGACTGAGACTCAGAGAGGGCAAGTCTCCACTCAGAATCAGCCAGTGGCAGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGTGGCAGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGACCCCTGTCTCTATTAAAAATATAAAAATAGCCGGACATGGTGGTGCATACCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACATAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAACCAGCCAGTGGCTTCTCATCGTTCTTGCTGTATTAGGCTGAACTATATAAAATGATCAGTTTTTGGTTTTGATCCATGAAAACATCCATATCCGTTTTGCATATTCTAACTTGCATTAAATCCAAAACTCGTCACCTTGGCATGCGGGGCCCTACATGATGCAGCCCCTTTCTGCCTCTTTTGGCTCCTTCTTCCTCCTTTCCCTGTGCTAAACACCAGATGGGGTCCAGCCTGGGAGTAAGGGGCAACTGCCGCTCGCCTCATGCAGTGCCTGCTCCAGCATCCCATGCTTCCTCCTGGGAAACTCACCAGTCAGCATGAACTGATAGGCGTTGTCAGAGATGGAGAAGATGTGGGGTGGGGCCTCCTGGCGCTTTTTGCCTCGGTAGCCTTCCACCACCTCGGGGTTGTACACCGGCAGCCACTTGTAGGGGTTGACAGTGACACAGAAGAGGCCTGAGTAGGTCTGTGGGAGGAAAAACATATACGTGCGTATATGTATGTATGTGCATATGGAAAACCCCTTGCCTTTATTATTATTATTGTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACATGCCATCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGAATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTTACCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCACACCCAGCTGCCTTTATTATTATCTCATGTTTCTTTGGGATAAACTTATAAAGGGGGGAGGCTACCATTCCTATTTATAGTGAGGCACTGAGACTCAAAAAGGGGAGTGGCGACCCTCCCACAGTTGGTAAGTCACAGCACCCCGTGACCAAGCCTGGCCCCAGCTTCCCCGCTCTCCGGCTCCTGGTCCTCCTTCCCACCTTCCTTCTTCCTGCCCCATCCACCTCTTGCTTTCTTGCCTTCTTTCTCCTCCGTCTTTGTGTTTTGTTCATCAGCTAGGCAAGCACTCATCTTCCAGAATCCCACGGCCCACACACATACCTCTGCCTCCCTCCCCTGCCCGCATATCTAATGCCCCAGGGAAACCACGTCGAAAGCCCTCGCTGACAT
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GAGAGGTCTTCCCTGCCCACCCTGCCTAAAGCAAGCCTGGCCCCCAGTTCCTCTCTTACACACGCTGTTCATTGAACTTGGTCTGAATTTATCTTTATCTGAAATGGTCTTGTTGGGTTGTTTTGTTTTTCATCATCTGTTGCCTCTGGTCTCTACACTCTTTGAGGACAGGGCTCTTGCCTATTTTGTGAGGCACAAAGCAAATTCCATCTTAACCAAACTCAGACTCACAAAACGGGAGGAGTTGTCATTCCTCACAGTCTTGGCGTTCCCAAAGGCCTCCAGCAGGGGATTGGCACTGATGATTTGATCTTCCAGAGTCCCCTAATGCAAGAAATTGAGGGAAGAAGAGGAAACATTTTTTTTTGAGATGGAGTTACACTCTTGTTGCCCAGGCTGCAGTGCAATGGCACGATCTTGGCTTACTGCAACCTCCACCTCCCGGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATATTGGTCAGGTTGGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCAGCCTGAGGAAACATGTTTTTAAGCCACAGAATGACAGTAAAAAATGCTCACCCACTCTGTGACTCTGGCTTGCCCTGATAAAGCCCCACCCTCCTTGACTTTCCAATCCTAGGACCAACCAAATCAGCAGCATGTCTTACTCAAAACACTTTTGCCATTTTGTTATATTTGGCACTACAGTTGGGGATCTCTTGACTGAGCATTCCTTTAACACTTCAATCCCTTGATTCTCCAGTCAGTTGTCCGTATTCATTTCATGCTGCTGTAATACATTTGTTTCAAAAGCCCAGGATATGCTGTGAGTCACTCACATTGGTATATGTGATTCTTCCACAAAAGAACAAGCTCTCTGAGCCGTCTGCAGATTGACCTCTGAAGTTTAGCCCTAGAGCCTTGTCTTCTAAGAAATCCCGGGATCTAGTCCTACAAGACCAACTTGACACTGCGTTGTCTAAGGTGACTGGCTGTCCTTCAAGATAGTAAATCCTAGCCTGTTCTCCATTCTCTGAAGAGGGGGGAATGTGAGGACATTTGGCCCCCTCATTCTGAGGTTAAGACCACAGTTAAAAGTGGAAGCAAAGCAAGCCTTCCTCTCCCATCTATACCTTCATTTTGGAGTCCTTCTTCTTGGCCAGGTCCCCAGTAGCTGCAATTGTTGCAAAGTACTGGATGACCCGTTTGGTGTTCACAGTCTTTCCTGCCCCGGATTCTCCGCTGTACAGAGTGATCAAAAGAGAGAGAAAGAAACAAGTCTGTTAGTATAAACAGGCTTTTCAGGATGTCATACTGAGGCCTGGGCATGGTCTGAGCCATCTCTGACACACACTCACCACACTAATGTGACAGACCACTTGAGAAGGCAGACGCCCAGGGCACAGGTGCCACAGGCACTTGCTCAGCTGACCCAAGGATGGGTAATTCCATTTTTCTGAGGCCTTATGCAGACCTTCCTCCCCATCCCCAAATCGATCTTTTTATTTTTTATTTATTTATTTTTCTCTTTTATTTTTTATTTTTTGAGACAGAATCTCACTCTGCTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGGCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGACTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTGTATTTTTTTTAGTAGAGGCAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGGACCTCGTGATCCGCCCATCTCAGCCTACCAAAGTGCTGGGATTACAGGTGTCAGCCACCGCGCCCAGCCTGATCTTTTTATTATAGACTCTGCTCCAAACACTTTCTAATGAACAGAATAGAGCCAGTGGCACAGCTATGAAACCACTCTATGCCATGGATACTTACATGATCAGAATGGACTGGTTTTCACGATCTGCCAGAGGAAAAAATAAAATAGAGTTGATGGCAATAGAAAAAGAGCTTCCCGATTCTACCCAACTCTCAAGTAGCCAGAGTTAAATTGCACAATTCCTCTTCCTTTACATTTTTTGTTTAGCCTTTAGGTGGGAATCTGAAGAGCCTCCATCTGCTTTTTATTTTATTTTATTTTTAATTGACAAACAATATTTGTATATATTTGTAGGGTACAACATGATGATTTGATATATGTTTATATGGCAGAATGATTAAATCAAGCTAATTAACAAATCCGTCACCTCACATACTTATTTTTTTGTGGAGAAAACATTTAAAATATACTATTTTAGGGATTTTGAAATATACAATGCATTATTACTTATCGGAGTCACCATTCTATGGGACAGATCACCAGCACCGATTTCTCCTTTCCAGCTGTATCCTTTGGTCAATATCGAAAGCCTCCTTCTTGAGACTGAGACTCAGAGAGGGCAAGTCTCCACTCAGAATCAGCCAGTGGCAGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGTGGCAGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGACCCCTGTCTCTATTAAAAATATAAAAATAGCCGGACATGGTGGTGCATACCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACATAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAACCAGCCAGTGGCTTCTCATCGTTCTTGCTGTATTAGGCTGAACTATATAAAATGATCAGTTTTTGGTTTTGATCCATGAAAACATCCATATCCGTTTTGCATATTCTAACTTGCATTAAATCCAAAACTCGTCACCTTGGCATGCGGGGCCCTACATGATGCAGCCCCTTTCTGCCTCTTTTGGCTCCTTCTTCCTCCTTTCCCTGTGCTAAACACCAGATGGGGTCCAGCCTGGGAGTAAGGGGCAACTGCCGCTCGCCTCATGCAGTGCCTGCTCCAGCATCCCATGCTTCCTCCTGGGAAACTCACCAGTCAGCATGAACTGATAGGCGTTGTCAGAGATGGAGAAGATGTGGGGTGGGGCCTCCTGGCGCTTTTTGCCTCGGTAGCCTTCCACCACCTCGGGGTTGTACACCGGCAGCCACTTGTAGGGGTTGACAGTGACACAGAAGAGGCCTGAGTAGGTCTGTGGGAGGAAAAACATATACGTGCGTATATGTATGTATGTGCATATGGAAAACCCCTTGCCTTTATTATTATTATTGTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACATGCCATCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGAATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTTACCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCACACCCAGCTGCCTTTATTATTATCTCATGTTTCTTTGGGATAAACTTATAAAGGGGGGAGGCTACCATTCCTATTTATAGTGAGGCACTGAGACTCAAAAAGGGGAGTGGCGACCCTCCCACAGTTGGTAAGTCACAGCACCCCGTGACCAAGCCTGGCCCCAGCTTCCCCGCTCTCCGGCTCCTGGTCCTCCTTCCCACCTTCCTTCTTCCTGCCCCATCCACCTCTTGCTTTCTTGCCTTCTTTCTCCTCCGTCTTTGTGTTTTGTTCATCAGCTAGGCAAGCACTCATCTTCCAGAATCCCACGGCCCACACACATACCTCTGCCTCCCTCCCCTGCCCGCATATCTAATGCCCCAGGGAAACCACGTCGAAAGCCCTCGCTGACAT
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Task1_train_23810
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A change on Chromosome 17 affects gene SCO1 (synthesis of cytochrome C oxidase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 4
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GCAATGGAGATGAGCCTGGAGGATACTATTAATATGTTAAATGAAAAAAGTCAGGCACAGAAAGATAAATACTGCATATTCATACGTGGAAACTAAAAAAGTTGATCTCACAGAAGTAGAGAGAAGAATTGTGGATACTAGAGGCTGGAAAGGGTTGGGGAGGATAGGGACTCTGTACCCCATAAATATGTACAACTGTTATGTGTCAATTAAACAACAGTTACTTTGTCATAGTAAATGTTTTATTTATCTTTAAGACAGAGTCTAGCTCTGTTGCCCAGGCTGAAGATCAGTGGCGTGATGTCAGCTCACTGCTACCTCCGCCTGCCAGGTTCACGCGAATTCTCCTGCCTCAGCCTCCCGAATATCTGGGATTATAGGTGTGCACCACCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACTTTGGTCTCCCAAAGTGCTGGGATTACAGGCCCACCATGCCCGGCCTGTTACAGTAAATGTTTTAAATTTATAAAACATGCACTGAGTTCAAAATATGTTTGTATTTAATTATTCATCTTTAATCTACCAATGAACATACTTCCAGAATATATGTTTGTTCTGATTTTACAATGCAGAGAATGAGTTACAGCGCTGGAGTTAGAAGCAATGTGTCCTTACTCTCAATTCAAGGCTCGATTAACTTAGTTGATACATGAAGGCCAAGTTCAAATCCTTTCTCTGTGACAAAATATAAAGAGCACTGCATCAGGAATTGAGAAACCCATTTCTTACTTACGCACTAACTATCCATAACAATTCCTAGCTTCACCTTTTTATTCACCCATAAAACTGGTGATAATACCATTTGTCCTATTTCACAAGGCACTGTAAGGTTCAAATGAACTGATATTCCAAAAACTTTAAGGCTAAATAAATGTAAAGTATTATTTAAAAAAATACCTTTCACATAATTTGCGATGGCTTCTTTTGTGTCCCTCTCTGGGTCAATGCTGATGAAAAGTGGAGTTAGATCTGGCAGAGTTGTAATGCTATCTGAAAGAGAGTTCCAATTAGTCCGTATTCACACCCTAAGGGAAAAGACAAAGAAAACCAGCAATAACAGGAGAGTATAGGACGTGCTGGACAGCTAGGTGTTTTGAAAGCAGATGGACATCTTAACATTCAGGTGAAGAGGAAGAGGACGGGGAAGGGGATGGAGAAGGGATGGCCTTTAGGAGGAGGAGACCCATATACAGTAGTATTATCTGTGGTGGATAATACAAGGTTACATATCCTATCAAATGCCTGCACCAGCACATAAATGTTCTTCCCCTGGATAATGTCATGTGGCTATCTTATCTCTGAATCCACTCCAGTATCTGTAGTTTTTTTCACTCCCACCATATCTCAAGGGCAAGAAGGTAAATTGTTAATAAGAGCTGAATATCCTGAAATAATTCACTGTATGGAGGAGGCACCCTTCCTTCTTACTAGTACTAGTAAAATGCCACAGACTGCAGACCATTGCAAAGATTTCCTAATTTAATTGTCACAATCAGTGGGGAAGAGGCAATGGCAGCATCAGTGATGCAAAGGAAGGGACACAAAAGTAGAGTTAAGGGAGACCACACTGACATTTTTAAGTGATCTAACATTTAACATCAAAACAAGCTTCTTTCAGTGGAGAATAAGGTCACAAGATTCAAAGCAACAAACAAGCCAAATGCTGAGATTTTATGTTCTTACAAATCACATAATTGCAAAACCCCACCTAACAATAATACAAGGGTGTGAAAAACCTGGTAACATGAAGTAAACATATACTTTGTTTAGTTAGTGATGGCTTTCTTACCTATTTCATCCACGACTTGAATCATCTTTTCTAGTTCTTCTGGACAGACATCAGGGCAATGAGTGAAGCCAAAATAAATCAATAACCACTGACCCAAGTAGTCCTTGTCAGTTTTACGCTCCCCAGTATGAGTTGTGAGGGAAAACGGTCCCCCAAGTAAAGGCTTGCCGATGTGTCGCTGCCGTTCCTTCTCTAACTCTTAAGGAGACAAAAACATATCGACACCAAAAAAAAAGTCAATTTAACCAGAGGTACTCAAATACCTGACATATGGCCCGTACTATGCTACTCATGGTGGGGGCACAAAATGTGGAAAAAACAGTTTCAGTTTTCAAGAAGCTAAAAAAATCTTTTCAGAAAAATAAGCACAAAACATTAAAACAAAATCAAATGAAATGCTATGGTATGTTGTAAAAAAGGAAAAAATATTTCTTCTTTTTCAGGAACAATTCAGTCCTAAGCCATTAGCTGTGTCCATGCTGGGGGCAGGGAGGGGCTGCAGTGGCCTAGAGCTGAATGTCTAAACAAGTGGGGTGCGGTGGGTGGCCTGGCATAGGGAGTCTGATCCTGAGGGTGCTAAGGAGGGCAGCTGGGTGGGGAGGTGATAGTGGTGACGGGACCTTAGTTACACACAGGAAATTGATGAAATAAATGAGTATATTAAAGAGAAGAGAGTTACAATAGGAAACAAGAGTCAACTATGGAGAGAAAGAGAGCTAGGCTGAACCCTGCAGTACTGCAAATACACTGCAGGTACTAGTGTGAACTTCTATCTATATAGATATAAATAAATATAGATGTACATAAATATATCTATTTTCTCACCATGTCCACTGAGAGGACCAGGGAGCAGACACACTCCAAGAACCATGAGCCCAGAACCTGACTTCTAAATATCATTCTTCACTAAAAGGAAACAGCTTTTTGGAGAAATGGCTGATACCAGGGTTGCGGCAAAGAAAGTGTAAAATGAGGCTGGAACCTCTTGTTGTGGCAGAAGGAAAGCAGAACTTAGAGAATATTGGAGACGTGTCAAAGACACAGAAGCCTGCTCCAAGGGGGCTCCCGCTGATCAATCTGGGACAACTTGGGCATCAAAATAAAGAGAATATGGATTTAAACTGAATGAATATATAGGAAACAAGTCCACAGATATAAATAAATGAATACATTGATAGTGGGATGGGGAACAGAATATGTAAGTATACGTATGTCAATACAAATCATGAAACACCATTAATTACATGAGTAACTTTTCAGTAGAAAACCTGTTAGACACACATTAATCAAGTGATCAAACTGGACATTATCAGTAATGGGACAACTGGTACTATGTGGTATCTGACCAGATGCACGGAGAATACAGCATCACTTTTGTGATATTCCTGCCAAAGGTACACAACCCGAATGACCTGAATGAGGAAACATCAGACAAATCCAAGCTAAGGGGCATTCTACAAAATAACTCTCCTGTAACTGTCAAAGCTGTCAAGGTTGTGGGAGTCAGTTAAAGCCTGGGAAACTGTTACAGATGAAGGAGGCTAAGGTAAACAACTAGATACAAGGTGGTATGGTTCTGAAACAGATCCTTTTGCTCTGAAAGACATCAAGTGGCAAAACTTGGAAGACTGAACTGTAATCCAGCCTGGGCAACAGGAGTGAAACTCTGTCTCAAAAAACAAACAAATAAACAATACCCTGAAGATTATCTGAACACTGAACAGCAGCAAAATTATCAGCGTCAATTTTCTAATTTTGATGGTTGTATTGTGGTTATGCTAGAAAAGGTCCTTGTTTGTAGGAAATACACCAAAAAGTGTTTGGAGCTAATGACGCAACATGTCAGCAAATAAATACTCTCAAATTATTTAGGAAGACTTTTCAGATTATTTAATAATACATTTTTTAAATAAAACAAACGTTAGAATTGCACTTGAAATTCCAAACTAAAGTCAAAAAAAGCTTCCATATTCTAGAATTTTCCCGCCACAACTTTCCTAGCTTTTGTTTCTTTGTGAAACTAAAGAAACTTACTGCTTATTAGACTATGAAAATCTTACCCAATACTACTTATTATGCCAAAGAGTCTCATATATATGTATGTCAGTACAAAACTTAACACTGCTAAGTTCCTAAAGCCTATGAATTCCCAGATTTAATCATTAACCTTTGTATATAATGTTATCAAAAGAGACTCCAAAGAATGGAAAGATTTA
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GCAATGGAGATGAGCCTGGAGGATACTATTAATATGTTAAATGAAAAAAGTCAGGCACAGAAAGATAAATACTGCATATTCATACGTGGAAACTAAAAAAGTTGATCTCACAGAAGTAGAGAGAAGAATTGTGGATACTAGAGGCTGGAAAGGGTTGGGGAGGATAGGGACTCTGTACCCCATAAATATGTACAACTGTTATGTGTCAATTAAACAACAGTTACTTTGTCATAGTAAATGTTTTATTTATCTTTAAGACAGAGTCTAGCTCTGTTGCCCAGGCTGAAGATCAGTGGCGTGATGTCAGCTCACTGCTACCTCCGCCTGCCAGGTTCACGCGAATTCTCCTGCCTCAGCCTCCCGAATATCTGGGATTATAGGTGTGCACCACCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACTTTGGTCTCCCAAAGTGCTGGGATTACAGGCCCACCATGCCCGGCCTGTTACAGTAAATGTTTTAAATTTATAAAACATGCACTGAGTTCAAAATATGTTTGTATTTAATTATTCATCTTTAATCTACCAATGAACATACTTCCAGAATATATGTTTGTTCTGATTTTACAATGCAGAGAATGAGTTACAGCGCTGGAGTTAGAAGCAATGTGTCCTTACTCTCAATTCAAGGCTCGATTAACTTAGTTGATACATGAAGGCCAAGTTCAAATCCTTTCTCTGTGACAAAATATAAAGAGCACTGCATCAGGAATTGAGAAACCCATTTCTTACTTACGCACTAACTATCCATAACAATTCCTAGCTTCACCTTTTTATTCACCCATAAAACTGGTGATAATACCATTTGTCCTATTTCACAAGGCACTGTAAGGTTCAAATGAACTGATATTCCAAAAACTTTAAGGCTAAATAAATGTAAAGTATTATTTAAAAAAATACCTTTCACATAATTTGCGATGGCTTCTTTTGTGTCCCTCTCTGGGTCAATGCTGATGAAAAGTGGAGTTAGATCTGGCAGAGTTGTAATGCTATCTGAAAGAGAGTTCCAATTAGTCCGTATTCACACCCTAAGGGAAAAGACAAAGAAAACCAGCAATAACAGGAGAGTATAGGACGTGCTGGACAGCTAGGTGTTTTGAAAGCAGATGGACATCTTAACATTCAGGTGAAGAGGAAGAGGACGGGGAAGGGGATGGAGAAGGGATGGCCTTTAGGAGGAGGAGACCCATATACAGTAGTATTATCTGTGGTGGATAATACAAGGTTACATATCCTATCAAATGCCTGCACCAGCACATAAATGTTCTTCCCCTGGATAATGTCATGTGGCTATCTTATCTCTGAATCCACTCCAGTATCTGTAGTTTTTTTCACTCCCACCATATCTCAAGGGCAAGAAGGTAAATTGTTAATAAGAGCTGAATATCCTGAAATAATTCACTGTATGGAGGAGGCACCCTTCCTTCTTACTAGTACTAGTAAAATGCCACAGACTGCAGACCATTGCAAAGATTTCCTAATTTAATTGTCACAATCAGTGGGGAAGAGGCAATGGCAGCATCAGTGATGCAAAGGAAGGGACACAAAAGTAGAGTTAAGGGAGACCACACTGACATTTTTAAGTGATCTAACATTTAACATCAAAACAAGCTTCTTTCAGTGGAGAATAAGGTCACAAGATTCAAAGCAACAAACAAGCCAAATGCTGAGATTTTATGTTCTTACAAATCACATAATTGCAAAACCCCACCTAACAATAATACAAGGGTGTGAAAAACCTGGTAACATGAAGTAAACATATACTTTGTTTAGTTAGTGATGGCTTTCTTACCTATTTCATCCACGACTTGAATCATCTTTTCTAGTTCTTCTGGACAGACATCAGGGCAATGAGTGAAGCCAAAATAAATCAATAACCACTGACCCAAGTAGTCCTTGTCAGTTTTACGCTCCCCAGTATGAGTTGTGAGGGAAAACGGTCCCCCAAGTAAAGGCTTGCTGATGTGTCGCTGCCGTTCCTTCTCTAACTCTTAAGGAGACAAAAACATATCGACACCAAAAAAAAAGTCAATTTAACCAGAGGTACTCAAATACCTGACATATGGCCCGTACTATGCTACTCATGGTGGGGGCACAAAATGTGGAAAAAACAGTTTCAGTTTTCAAGAAGCTAAAAAAATCTTTTCAGAAAAATAAGCACAAAACATTAAAACAAAATCAAATGAAATGCTATGGTATGTTGTAAAAAAGGAAAAAATATTTCTTCTTTTTCAGGAACAATTCAGTCCTAAGCCATTAGCTGTGTCCATGCTGGGGGCAGGGAGGGGCTGCAGTGGCCTAGAGCTGAATGTCTAAACAAGTGGGGTGCGGTGGGTGGCCTGGCATAGGGAGTCTGATCCTGAGGGTGCTAAGGAGGGCAGCTGGGTGGGGAGGTGATAGTGGTGACGGGACCTTAGTTACACACAGGAAATTGATGAAATAAATGAGTATATTAAAGAGAAGAGAGTTACAATAGGAAACAAGAGTCAACTATGGAGAGAAAGAGAGCTAGGCTGAACCCTGCAGTACTGCAAATACACTGCAGGTACTAGTGTGAACTTCTATCTATATAGATATAAATAAATATAGATGTACATAAATATATCTATTTTCTCACCATGTCCACTGAGAGGACCAGGGAGCAGACACACTCCAAGAACCATGAGCCCAGAACCTGACTTCTAAATATCATTCTTCACTAAAAGGAAACAGCTTTTTGGAGAAATGGCTGATACCAGGGTTGCGGCAAAGAAAGTGTAAAATGAGGCTGGAACCTCTTGTTGTGGCAGAAGGAAAGCAGAACTTAGAGAATATTGGAGACGTGTCAAAGACACAGAAGCCTGCTCCAAGGGGGCTCCCGCTGATCAATCTGGGACAACTTGGGCATCAAAATAAAGAGAATATGGATTTAAACTGAATGAATATATAGGAAACAAGTCCACAGATATAAATAAATGAATACATTGATAGTGGGATGGGGAACAGAATATGTAAGTATACGTATGTCAATACAAATCATGAAACACCATTAATTACATGAGTAACTTTTCAGTAGAAAACCTGTTAGACACACATTAATCAAGTGATCAAACTGGACATTATCAGTAATGGGACAACTGGTACTATGTGGTATCTGACCAGATGCACGGAGAATACAGCATCACTTTTGTGATATTCCTGCCAAAGGTACACAACCCGAATGACCTGAATGAGGAAACATCAGACAAATCCAAGCTAAGGGGCATTCTACAAAATAACTCTCCTGTAACTGTCAAAGCTGTCAAGGTTGTGGGAGTCAGTTAAAGCCTGGGAAACTGTTACAGATGAAGGAGGCTAAGGTAAACAACTAGATACAAGGTGGTATGGTTCTGAAACAGATCCTTTTGCTCTGAAAGACATCAAGTGGCAAAACTTGGAAGACTGAACTGTAATCCAGCCTGGGCAACAGGAGTGAAACTCTGTCTCAAAAAACAAACAAATAAACAATACCCTGAAGATTATCTGAACACTGAACAGCAGCAAAATTATCAGCGTCAATTTTCTAATTTTGATGGTTGTATTGTGGTTATGCTAGAAAAGGTCCTTGTTTGTAGGAAATACACCAAAAAGTGTTTGGAGCTAATGACGCAACATGTCAGCAAATAAATACTCTCAAATTATTTAGGAAGACTTTTCAGATTATTTAATAATACATTTTTTAAATAAAACAAACGTTAGAATTGCACTTGAAATTCCAAACTAAAGTCAAAAAAAGCTTCCATATTCTAGAATTTTCCCGCCACAACTTTCCTAGCTTTTGTTTCTTTGTGAAACTAAAGAAACTTACTGCTTATTAGACTATGAAAATCTTACCCAATACTACTTATTATGCCAAAGAGTCTCATATATATGTATGTCAGTACAAAACTTAACACTGCTAAGTTCCTAAAGCCTATGAATTCCCAGATTTAATCATTAACCTTTGTATATAATGTTATCAAAAGAGACTCCAAAGAATGGAAAGATTTA
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Task1_train_23811
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This variant affects gene DNAH9 (dynein axonemal heavy chain 9) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Ciliary dyskinesia, primary, 40
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AACACACACAGACACACATATACACACATGCTCCGGCCTTCCTGGGAAATCAAGTCTGCAGGTCAGGGCAGCGGTGCTTGTGTTATGGGTGTTTGTTTCTGCATAAAAAAATTACTCCAAAGCTTAGTGATTTTGTACAATAACCATTTCATAATATCTCACAAGTTTGTTGAGGGCAGGGCTCAGCTGGCCAGGTTTTCTGCTCCATGTGGCCATGACTGGGGTCACTTGGTACATTCAGCTGGTGGCCGGGCTGGAGGCCCCCGAGATGACTTCCTTCACATGCTGGGCATCTTGGCAGTGATGATTGGAAGGGAGGGTGCAGCTGGTCCTCTCTCCCTTCCTCAGGGCATTTCCACGCATTCCCTCTAGCAGGGTAGTCGGACGTCTTACACAGTAACTCAGGACATCAAGGACAAGTGTCCCAAGAGGCAGGAAGTGGAAAGTCCCAGTATCTGAAGGCCTGGGACTGAAAACTGGCACAACAGCACTTCCGCTGTACTCTATAGGTCAAAGCAGTCACAGATTAAAGGGCAGAGAGCACAGACAGCAACTCTTAATGACAGGAATGTCAAAGAATTTACAGCCTTTTAAATCTCCTATGGCTTGTATTTCTCATCCCATATATCAGCTAAGACTCTGCAAAGCAAGTCAAATGGATATGATTTCTCTTCAAGCTAGAGACTTTACAGCACCCTCCTCACCAGTGAAGGGAAGTACATTCCACACCTGTTGACATTTATTCCAGCCACCACTGAATTACACAGCAGAGCCAGATGTTTTAATCTGGGGAACAGTGAGTCATAGCGATCACTGAATGGAGCTGTGATGTAATGAAGACCTGCCATACCCAAATGTGTGTCTGTGCAGTTGTCACTGGACCAGCTTCTGTGTGGCTTTGAGATGATCCGTTTAGCTGAACAGTTCAGTTTAGAGATAGCAACTCTTGCCAATGTGCAAGAAGTCCTCCAGATCTCCTAGCTGGCCTGCCTTCCATTCACCTCCCTGCTTGGTTTCTGAACTTAGCGCAGCCTTCTCTGCCTGGCTGGAGCACTTTCTGAGTCAGTGCTCATGGGAGGCAGTGTAGCACTCTGCTCTAGGAGTCAGGATGTTCAGGCTCTGAAGCCACCCCTGTCTCTACCGACCTAGAGATTCTGGTGAGATATTTGGACTTTCTGACCTTTGTGTAATCTGAAAACAGGCATGTGAATGACTGGGTTGGCAAATCTCTAAGGTCTGTCCAGACTGTGACGTTCCATGATGTTATCATTAGAAGAAAAAATAAAGGGTGAGTCCTAACGCAGAAGCAAAGCTCCGCCATACCACTAACAGTCCTCTGTAGAAAGAATGGCTCTCCTCCCAGGGAGACTGTACCAACCCAAAGAGGGCTGGGGGGTCAGGACTTTGTACACACCCATGACCTTACCATGCTTCTCTGTGTCTCAATTAGCACATCTGTCTCCTCGCCCGCTGTGAATTATTTATGGTGCATGGACTTGATTTTGTTTATTTTCATTTCCCCAGCATTTGGAAAGGAGAAAGAAGTGGCTAATTTTCTAACATGTTCCACAGACCAGGTATTGTGCTAAATAATAAACATACATGATTATATTTCATCCTCTCAACAACCCTTTGATTAAGTGGTATCAGTCTCCACACACAGAAAGAGCAGAGTCAAACCCTGTCATCTTTCCATGGTTCATGTGATGCATGACACAGAATGGGGGCTTGTGTACTGAAAGCTTTGCTACAGGCAGCACAAATCCCCATTAACGGAAAGGGCCATATAAGTGATATTCTGCCTCTTCCCGCTATGAAGCGTGCAGCGGGCGCTCTCCATGATGGAATCACGGCTCTATCACCTACTGTGTAACACGCCTCCTCTCCTCTCTGGCTTTTGAAATGGTAGGTTGGAGGACTCGCTTCTGAAAACGTGAGGTGGGCAGATGCCGTGCAGAACTTCAAACAGCAGGAAAGGACGTTATGTGGAGACATTTTACTTATAACGGCTTTCATTTCCTACCTTGGCTTCTTCACAAAGAAATACCGGCAGAGCCTCCTGGACAGAACTTGGAGGCCCTACCTGAGCCAGCTGAAAGTACGTATGGCCTGAATTTCTCCCGACCACATCAGCCTCTGGGCACCAATGGGAAGACATCACGGTCATAATTCGCATCCTCTGGTGTCCTCCTGCACACTCATCCCCACCACCCCCTGAGCACCAGGTGTGAAACCTGCGTACCCGTGTCCTTCCACACTGCCTTGCATTGCTGCCCACTGCCCTCCAGGCCACCTGGGGGCAGCACCTCTCCTCTGAATGTAGTCCTCCATGGGAACACTAGTCCTCTTCCCCGCGGGCTGTCTCCTAGCAATCCTTAAAGCTGTGAAACCTGAGAGATAGAAAAAGAACCATTTTCGTCTCTGATCTCCCCACTCCAGAGCCAGACTTCATAGGAGCAGTCAGGGGACGTTCCATTTCCCAGATCCTACATTGCACCTTGTTACTGGGCCCTAAAGCTACACAGCTTGTGCCAGTGACTCACAGATATCCTTCGTCGGCTTCCGTCCTGCATAATCCCATGAACAGCTGCTCACATGCTTCTTATTTGGGCAGTTCAGCTTGTCCTCCTCGTGTGGCTAGGTGGATGTTACTCCCAACCCATCCCTTTACATCACCCGCCCCCCACCCCCTGCAATGTAACTAAATGGAGAAATACTGGTTTCCCATTAAAGGGGATTCAAAGCTATACTTGGACGCGAGCATCAGAAGTTCTAATATTTTCTTGGCACTTTCGCATCACTTCTAGCAACCCACAAATACTTCCTGTGTATTTAGTGTGTCCTACCACTCCACTATACAGGAGGCACACAAAACGTTCAAGACCGGGATACCTTTGGCAAGTTCCCAGTCCACTTGAGGAGATTAGGCTCATAGAAGTCAGCGAAGGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCTTGGCTAACACAGTGAAACCACGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGAAGCTTGCAGTGAGCCAAGATAGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAACAAACAAACAAAAACAGTCAGTGAGGGTGAAAGTCAGCCCCAAATTTCACAACATAAGGTAAAAGCTGTATTCCAGATCTATTTGTAAGTAGAACCTTAGAACAAAAACTCTTTCTGTAGTGATGATTGTTTTCTCAGATCAGCTCATAAAACCCTGCTCACCTGACAATTAGCTGAACCGTAGTTTTTAAAATGCTAGCAAATAAACAAAAAATAAAGCAGCTGTTTGACTCATCCTAAACACTTTTGGAAAAAGGAAATTGTTGAAGGAACCATCATTAACTGAGTGAATGAAGAAGAAGAGCTCAGTAGCAGCTTAGTGAGGATTTTTCTGGCTTTGTTTGGATTCTTAAGCTTTTTTGTGTCATGGACGTCTTTGGCAGTCTGGTGAGACCTACGGATTCTTTCTCAGAATAATGATTTTGACACGTCAAATAGAATGCATGAGATTACAAAGGGAAAAAATATATTGGAACACAATTCTGGTCCCAGATAAGAATCCCCAAGGGGCTGATTTCCCTTCAGAGGTTTGCTGGATACTGTAGTACTGGCCATTTGTGCCCTTGTTAGATACAATTAAGAGGATGGGAGATGGTTTGGAGAGGTTTCCCTGGGATAATTGGGCAGAACAAACTTCAGAGAGGAGTGAGATGAAGGAGTTAAAAGGGTATTTGTCTAAACCTCGAAAGCATTATGCTAAGTGAAAGTAACCAGACACAAAAGGTCACATATTGTAGGATTCATTTATAGTAAAATATCCAGAATAAGAAAATCCAAGGGGACAGAAAACATATTCATAGTTTCCACGAGCTGGGGGTAGACAGAAATTGCGGGGGCTGTTGAATGAGTATGGGATTTG
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AACACACACAGACACACATATACACACATGCTCCGGCCTTCCTGGGAAATCAAGTCTGCAGGTCAGGGCAGCGGTGCTTGTGTTATGGGTGTTTGTTTCTGCATAAAAAAATTACTCCAAAGCTTAGTGATTTTGTACAATAACCATTTCATAATATCTCACAAGTTTGTTGAGGGCAGGGCTCAGCTGGCCAGGTTTTCTGCTCCATGTGGCCATGACTGGGGTCACTTGGTACATTCAGCTGGTGGCCGGGCTGGAGGCCCCCGAGATGACTTCCTTCACATGCTGGGCATCTTGGCAGTGATGATTGGAAGGGAGGGTGCAGCTGGTCCTCTCTCCCTTCCTCAGGGCATTTCCACGCATTCCCTCTAGCAGGGTAGTCGGACGTCTTACACAGTAACTCAGGACATCAAGGACAAGTGTCCCAAGAGGCAGGAAGTGGAAAGTCCCAGTATCTGAAGGCCTGGGACTGAAAACTGGCACAACAGCACTTCCGCTGTACTCTATAGGTCAAAGCAGTCACAGATTAAAGGGCAGAGAGCACAGACAGCAACTCTTAATGACAGGAATGTCAAAGAATTTACAGCCTTTTAAATCTCCTATGGCTTGTATTTCTCATCCCATATATCAGCTAAGACTCTGCAAAGCAAGTCAAATGGATATGATTTCTCTTCAAGCTAGAGACTTTACAGCACCCTCCTCACCAGTGAAGGGAAGTACATTCCACACCTGTTGACATTTATTCCAGCCACCACTGAATTACACAGCAGAGCCAGATGTTTTAATCTGGGGAACAGTGAGTCATAGCGATCACTGAATGGAGCTGTGATGTAATGAAGACCTGCCATACCCAAATGTGTGTCTGTGCAGTTGTCACTGGACCAGCTTCTGTGTGGCTTTGAGATGATCCGTTTAGCTGAACAGTTCAGTTTAGAGATAGCAACTCTTGCCAATGTGCAAGAAGTCCTCCAGATCTCCTAGCTGGCCTGCCTTCCATTCACCTCCCTGCTTGGTTTCTGAACTTAGCGCAGCCTTCTCTGCCTGGCTGGAGCACTTTCTGAGTCAGTGCTCATGGGAGGCAGTGTAGCACTCTGCTCTAGGAGTCAGGATGTTCAGGCTCTGAAGCCACCCCTGTCTCTACCGACCTAGAGATTCTGGTGAGATATTTGGACTTTCTGACCTTTGTGTAATCTGAAAACAGGCATGTGAATGACTGGGTTGGCAAATCTCTAAGGTCTGTCCAGACTGTGACGTTCCATGATGTTATCATTAGAAGAAAAAATAAAGGGTGAGTCCTAACGCAGAAGCAAAGCTCCGCCATACCACTAACAGTCCTCTGTAGAAAGAATGGCTCTCCTCCCAGGGAGACTGTACCAACCCAAAGAGGGCTGGGGGGTCAGGACTTTGTACACACCCATGACCTTACCATGCTTCTCTGTGTCTCAATTAGCACATCTGTCTCCTCGCCCGCTGTGAATTATTTATGGTGCATGGACTTGATTTTGTTTATTTTCATTTCCCCAGCATTTGGAAAGGAGAAAGAAGTGGCTAATTTTCTAACATGTTCCACAGACCAGGTATTGTGCTAAATAATAAACATACATGATTATATTTCATCCTCTCAACAACCCTTTGATTAAGTGGTATCAGTCTCCACACACAGAAAGAGCAGAGTCAAACCCTGTCATCTTTCCATGGTTCATGTGATGCATGACACAGAATGGGGGCTTGTGTACTGAAAGCTTTGCTACAGGCAGCACAAATCCCCATTAACGGAAAGGGCCATATAAGTGATATTCTGCCTCTTCCCGCTATGAAGCGTGCAGCGGGCGCTCTCCATGATGGAATCACGGCTCTATCACCTACTGTGTAACACGCCTCCTCTCCTCTCTGGCTTTTGAAATGGTAGGTTGGAGGACTCGCTTCTGAAAACGTGAGGTGGGCAGATGCCGTGCAGAACTTCAAACAGCAGGAAAGGACGTTATGTGGAGACATTTTACTTATAACGGCTTTCATTTCCTACCTTGGCTTCTTCACAAAGAAATACCTGCAGAGCCTCCTGGACAGAACTTGGAGGCCCTACCTGAGCCAGCTGAAAGTACGTATGGCCTGAATTTCTCCCGACCACATCAGCCTCTGGGCACCAATGGGAAGACATCACGGTCATAATTCGCATCCTCTGGTGTCCTCCTGCACACTCATCCCCACCACCCCCTGAGCACCAGGTGTGAAACCTGCGTACCCGTGTCCTTCCACACTGCCTTGCATTGCTGCCCACTGCCCTCCAGGCCACCTGGGGGCAGCACCTCTCCTCTGAATGTAGTCCTCCATGGGAACACTAGTCCTCTTCCCCGCGGGCTGTCTCCTAGCAATCCTTAAAGCTGTGAAACCTGAGAGATAGAAAAAGAACCATTTTCGTCTCTGATCTCCCCACTCCAGAGCCAGACTTCATAGGAGCAGTCAGGGGACGTTCCATTTCCCAGATCCTACATTGCACCTTGTTACTGGGCCCTAAAGCTACACAGCTTGTGCCAGTGACTCACAGATATCCTTCGTCGGCTTCCGTCCTGCATAATCCCATGAACAGCTGCTCACATGCTTCTTATTTGGGCAGTTCAGCTTGTCCTCCTCGTGTGGCTAGGTGGATGTTACTCCCAACCCATCCCTTTACATCACCCGCCCCCCACCCCCTGCAATGTAACTAAATGGAGAAATACTGGTTTCCCATTAAAGGGGATTCAAAGCTATACTTGGACGCGAGCATCAGAAGTTCTAATATTTTCTTGGCACTTTCGCATCACTTCTAGCAACCCACAAATACTTCCTGTGTATTTAGTGTGTCCTACCACTCCACTATACAGGAGGCACACAAAACGTTCAAGACCGGGATACCTTTGGCAAGTTCCCAGTCCACTTGAGGAGATTAGGCTCATAGAAGTCAGCGAAGGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCTTGGCTAACACAGTGAAACCACGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGAAGCTTGCAGTGAGCCAAGATAGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAACAAACAAACAAAAACAGTCAGTGAGGGTGAAAGTCAGCCCCAAATTTCACAACATAAGGTAAAAGCTGTATTCCAGATCTATTTGTAAGTAGAACCTTAGAACAAAAACTCTTTCTGTAGTGATGATTGTTTTCTCAGATCAGCTCATAAAACCCTGCTCACCTGACAATTAGCTGAACCGTAGTTTTTAAAATGCTAGCAAATAAACAAAAAATAAAGCAGCTGTTTGACTCATCCTAAACACTTTTGGAAAAAGGAAATTGTTGAAGGAACCATCATTAACTGAGTGAATGAAGAAGAAGAGCTCAGTAGCAGCTTAGTGAGGATTTTTCTGGCTTTGTTTGGATTCTTAAGCTTTTTTGTGTCATGGACGTCTTTGGCAGTCTGGTGAGACCTACGGATTCTTTCTCAGAATAATGATTTTGACACGTCAAATAGAATGCATGAGATTACAAAGGGAAAAAATATATTGGAACACAATTCTGGTCCCAGATAAGAATCCCCAAGGGGCTGATTTCCCTTCAGAGGTTTGCTGGATACTGTAGTACTGGCCATTTGTGCCCTTGTTAGATACAATTAAGAGGATGGGAGATGGTTTGGAGAGGTTTCCCTGGGATAATTGGGCAGAACAAACTTCAGAGAGGAGTGAGATGAAGGAGTTAAAAGGGTATTTGTCTAAACCTCGAAAGCATTATGCTAAGTGAAAGTAACCAGACACAAAAGGTCACATATTGTAGGATTCATTTATAGTAAAATATCCAGAATAAGAAAATCCAAGGGGACAGAAAACATATTCATAGTTTCCACGAGCTGGGGGTAGACAGAAATTGCGGGGGCTGTTGAATGAGTATGGGATTTG
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Task1_train_23812
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A genomic change on Chromosome 17 affects DNAH9 (dynein axonemal heavy chain 9). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Ciliary dyskinesia, primary, 40
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ACCAGAATATATGGTAATGTTTTCCAACACGAACCCTGATTGTAACCTCACCCTAGCCAGCCCCGTATAAGAGAAGTTGTGTGCGAACCTTAAAAGCGACACTCTCATTTCAGGACACTCTGGAGATGTGTTCTCGGGAGACGGAGTTTAAGAGCATCCTCTTTGCTCTTTGTTACTTCCATGCGGTGGTGGCAGAAAGACGAAAATTTGGGCCCCAGGGATGGAATCGCTCATACCCCTTTAACACTGGAGACCTCACTATCTCTGTGAATGTCCTCTACAACTTCCTGGAGGCCAACGCAAAGGTAAAGGCCATGGACATTCAGGGACCAGCCAGGTTGGGAGAGGGTTAAAATTATTTAATTTTGAGGGGTGAATCAGAGGGGTCTAGGATGGGGCCTGAGAATGTGCATTTCTAACAAGCTCCCTCGTGATGCAGATGCTGCTGATTCGGGGACCATAATTTAAGAGTGTAACACATGGTCATGTTCCAAGCCCCACTCCCCATTACCTGACAGCCAGATTATTTGAAACCTTGATAGTACAAATCGGAGCCCATGCATCAACATCATTGGCAGGACCTGGGAGCTAGTTAGAAATGCAGAATCTCAGGTCCCACCCAAACTTACTGAATCAGCGCATTTTAACGAGATTCTCTGGTAATTCGTATGCACGTTAAGGAGGGATGATGCAGTGCTATCCTACAGAAGGGGCATGAGCACACAGAAGGGCTGCACCCCACACAGGTGGGATGAGGCAGTGCCAACCCCAGGACTAACCCAAAGGCTGAGAATAGTACAACTGTGAGGTGAGAGCCATGGACGCTCAGGAAGTCTAACTAGAGACTCACACAGTGAGTCAGTCCCATGAGAGTTTGTCCCGGGCCCCACCAGACCATACCTATGTCTTCACAGCATGGCAGGTAGACTGTGATCAGCAGGAAGAGACTTCACACTCGCCTGATATAAGTTCCCAAACTTCGCTAACAATCAGTGCTCTTCCAGTTAAGGGAATATTCACCTCGTCAAGGTTATTCTAGTTCAGGAGCCAAACACAGAGTCAACAGGGCCACCACCTCTTCCTCGTGGGGAAAACGAACCAGGCCCAGATGCCCTGAGAAATCCTTCTGTCTCCAGCCCTTGGGCCTGGGAAGCCCACTCAACAGTAATCTTTCATTGCTGGCTTTCCTCCAGTGACCTCCCTCCCTAAGTCTCACACCAATGAACTTGTGGGCTTTGTTTATTCCCTTTGAACTTTCAAAGGGGACAGTTAATCTTGTCATTAAAGGCAGAAAATTAGAAAAGTACTCTGGTCCTCACTTTTCTCCATTTGACATTCACCTATTTAAAGAATTTCTAGGTAGAGCCTGCCTTCACTGTCACAGTTAAAAAGCTTGAAAGAGGGAAGGCATATATATATGGGGCGTGGGGTTGGCAACTTTCCTGTCTTCACTCTTTGATGTAATTCTTCAAGCTTTTTTTTTTCTTCTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGACCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGAGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGCGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCGCCCGGCCTTCTTCAGGCTTTTAATGAACTCCCCAAACACCCCTAACCCTGCTGGGCACTGAGGGTATGGAGAAAAATAAGACATTGCTCTCAATCTCAAGAAGCGTCCCTCTCTTGTGGCTTTCTGTGCTGCCCAGATGGGAGGCCAGCCCCGACGCCTGTGTGGAGGTCTTTCTTCCTTCCTCTCTTTCTTTCCCCCATCACTCAGGTCCCCTATGATGATTTGCGCTACCTGTTTGGAGAGATCATGTATGGAGGCCATATCACAGATGACTGGGACAGAAGACTCTGCAGAACCTACCTGGGGGAATTCATTCGACCAGAAATGTTAGAAGGAGAACTGTCTTTGGCCCCAGGGTTCCCACTCCCAGGCAACATGGACTACAATGGTTATCATCAGGTGAGACTCTGCTCTGTGCTTCTGATGTCGTGAGGGTGCTCACAGGGCCCTGGGTATTCCTCCCACGCCGACCTGCACCACCAGGGAAGCCTCTGCTGGGACATCACCATGGGCTGCAGGCAGGGGCTGAGGCAAAAGGGCTTAGACAGCTGAGCTCATGTCAAATCTGGTCCTATGCCCCAAGCCTGCCCTGTTTAAGTTGAGAGATACGGGATTTCTAGCCTCAAATTAATAATCAAATGGAGCCTTTGGAGATCTTTCGATTCTTGATGATTGGTTCAGTCATTCTGTGTGTTGCTGTTTTCTACAAATAACATCTGGGACAGTTATTTGGTTGTTTTCACTTGGGATGTTGACAAACCCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGGCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCAAGCCCGGCTAATTTTATTTTTGTATTTTTTTTAGTAGAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCGCGCCTGGCCTGACAAAGCCGTTTTTCATGGAGCAAAATTTCAGGCAAGACCTTAGCCAACTTTTGGTAAAGTTTCTGTGGGTGATTCTAAATATCCCTGGAGGAGCATGGTCTTGTGCCAAGATCACTCAGGTCACTCACCCCTCCCACTCCGTGTTGGTGGCTATGAACACAGGCACATACCGCATACGTATGCCACAGTCAGCATTCTCATGAAGGCTTTCTTTTCTTTTCTTTTATGAGACGGAGTCTTGATCTGTCACCCAGGCTGGAATACAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCTATTCTCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCCCCACCACCACACCCGGTTTTTGTATTTTTTAGTGGAGACGGGGTTTCATCGTGTTGGCGAAGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAGCACGCCCGGCCTCATGGAGGTTTTCTTACTATTACTTCGGTCTTTTATGTTACTATTACCACAGCTATGTTTAAAGTATTCATCTTTGCCTATTTCACCTTCCATGGAAAACATTCCAAAAGATTTTTTTTTTTTTTTTTTATAAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGGAATAGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGTCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGAAAGATATTTTTTAGCAGTTTTTATTGGTAGGCTTTTGAACATGCCTAGAAAAACTCTTGAATATAAAACATAAGGGAAATATTGATCACAGGAATATTAACTGCAAGCTTTAAAAAAATTTCTTTAATTCATTAAACTTAAGGGTAAATCGTAAAAGTCATTTGATCCAGAAAAATTGGACCTATAAGAGGAGATTTAAAACAATAAAGCTCTTTAAGGAAAATAAGAGGAAATGTTTTTAACTACTTCACCAAAGGCAAAAAGGCTTTTCCCGGGAAAATTGTGCAACAGCGTCCCCTAGTGTCCATGGGATAATTCGA
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ACCAGAATATATGGTAATGTTTTCCAACACGAACCCTGATTGTAACCTCACCCTAGCCAGCCCCGTATAAGAGAAGTTGTGTGCGAACCTTAAAAGCGACACTCTCATTTCAGGACACTCTGGAGATGTGTTCTCGGGAGACGGAGTTTAAGAGCATCCTCTTTGCTCTTTGTTACTTCCATGCGGTGGTGGCAGAAAGACGAAAATTTGGGCCCCAGGGATGGAATCGCTCATACCCCTTTAACACTGGAGACCTCACTATCTCTGTGAATGTCCTCTACAACTTCCTGGAGGCCAACGCAAAGGTAAAGGCCATGGACATTCAGGGACCAGCCAGGTTGGGAGAGGGTTAAAATTATTTAATTTTGAGGGGTGAATCAGAGGGGTCTAGGATGGGGCCTGAGAATGTGCATTTCTAACAAGCTCCCTCGTGATGCAGATGCTGCTGATTCGGGGACCATAATTTAAGAGTGTAACACATGGTCATGTTCCAAGCCCCACTCCCCATTACCTGACAGCCAGATTATTTGAAACCTTGATAGTACAAATCGGAGCCCATGCATCAACATCATTGGCAGGACCTGGGAGCTAGTTAGAAATGCAGAATCTCAGGTCCCACCCAAACTTACTGAATCAGCGCATTTTAACGAGATTCTCTGGTAATTCGTATGCACGTTAAGGAGGGATGATGCAGTGCTATCCTACAGAAGGGGCATGAGCACACAGAAGGGCTGCACCCCACACAGGTGGGATGAGGCAGTGCCAACCCCAGGACTAACCCAAAGGCTGAGAATAGTACAACTGTGAGGTGAGAGCCATGGACGCTCAGGAAGTCTAACTAGAGACTCACACAGTGAGTCAGTCCCATGAGAGTTTGTCCCGGGCCCCACCAGACCATACCTATGTCTTCACAGCATGGCAGGTAGACTGTGATCAGCAGGAAGAGACTTCACACTCGCCTGATATAAGTTCCCAAACTTCGCTAACAATCAGTGCTCTTCCAGTTAAGGGAATATTCACCTCGTCAAGGTTATTCTAGTTCAGGAGCCAAACACAGAGTCAACAGGGCCACCACCTCTTCCTCGTGGGGAAAACGAACCAGGCCCAGATGCCCTGAGAAATCCTTCTGTCTCCAGCCCTTGGGCCTGGGAAGCCCACTCAACAGTAATCTTTCATTGCTGGCTTTCCTCCAGTGACCTCCCTCCCTAAGTCTCACACCAATGAACTTGTGGGCTTTGTTTATTCCCTTTGAACTTTCAAAGGGGACAGTTAATCTTGTCATTAAAGGCAGAAAATTAGAAAAGTACTCTGGTCCTCACTTTTCTCCATTTGACATTCACCTATTTAAAGAATTTCTAGGTAGAGCCTGCCTTCACTGTCACAGTTAAAAAGCTTGAAAGAGGGAAGGCATATATATATGGGGCGTGGGGTTGGCAACTTTCCTGTCTTCACTCTTTGATGTAATTCTTCAAGCTTTTTTTTTTCTTCTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGACCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGAGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGCGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCGCCCGGCCTTCTTCAGGCTTTTAATGAACTCCCCAAACACCCCTAACCCTGCTGGGCACTGAGGGTATGGAGAAAAATAAGACATTGCTCTCAATCTCAAGAAGCGTCCCTCTCTTGTGGCTTTCTGTGCTGCCCAGATGGGAGGCCAGCCCCGACGCCTGTGTGGAGGTCTTTCTTCCTTCCTCTCTTTCTTTCCCCCATCACTCAGGTCCCCTATGATGATTTGCGCTACCTGTTTGGAGAGATCATGTATGGAGGCCATATCACAGATGACTGGAACAGAAGACTCTGCAGAACCTACCTGGGGGAATTCATTCGACCAGAAATGTTAGAAGGAGAACTGTCTTTGGCCCCAGGGTTCCCACTCCCAGGCAACATGGACTACAATGGTTATCATCAGGTGAGACTCTGCTCTGTGCTTCTGATGTCGTGAGGGTGCTCACAGGGCCCTGGGTATTCCTCCCACGCCGACCTGCACCACCAGGGAAGCCTCTGCTGGGACATCACCATGGGCTGCAGGCAGGGGCTGAGGCAAAAGGGCTTAGACAGCTGAGCTCATGTCAAATCTGGTCCTATGCCCCAAGCCTGCCCTGTTTAAGTTGAGAGATACGGGATTTCTAGCCTCAAATTAATAATCAAATGGAGCCTTTGGAGATCTTTCGATTCTTGATGATTGGTTCAGTCATTCTGTGTGTTGCTGTTTTCTACAAATAACATCTGGGACAGTTATTTGGTTGTTTTCACTTGGGATGTTGACAAACCCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGGCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCAAGCCCGGCTAATTTTATTTTTGTATTTTTTTTAGTAGAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCGCGCCTGGCCTGACAAAGCCGTTTTTCATGGAGCAAAATTTCAGGCAAGACCTTAGCCAACTTTTGGTAAAGTTTCTGTGGGTGATTCTAAATATCCCTGGAGGAGCATGGTCTTGTGCCAAGATCACTCAGGTCACTCACCCCTCCCACTCCGTGTTGGTGGCTATGAACACAGGCACATACCGCATACGTATGCCACAGTCAGCATTCTCATGAAGGCTTTCTTTTCTTTTCTTTTATGAGACGGAGTCTTGATCTGTCACCCAGGCTGGAATACAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCTATTCTCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCCCCACCACCACACCCGGTTTTTGTATTTTTTAGTGGAGACGGGGTTTCATCGTGTTGGCGAAGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAGCACGCCCGGCCTCATGGAGGTTTTCTTACTATTACTTCGGTCTTTTATGTTACTATTACCACAGCTATGTTTAAAGTATTCATCTTTGCCTATTTCACCTTCCATGGAAAACATTCCAAAAGATTTTTTTTTTTTTTTTTTATAAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGGAATAGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGTCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGAAAGATATTTTTTAGCAGTTTTTATTGGTAGGCTTTTGAACATGCCTAGAAAAACTCTTGAATATAAAACATAAGGGAAATATTGATCACAGGAATATTAACTGCAAGCTTTAAAAAAATTTCTTTAATTCATTAAACTTAAGGGTAAATCGTAAAAGTCATTTGATCCAGAAAAATTGGACCTATAAGAGGAGATTTAAAACAATAAAGCTCTTTAAGGAAAATAAGAGGAAATGTTTTTAACTACTTCACCAAAGGCAAAAAGGCTTTTCCCGGGAAAATTGTGCAACAGCGTCCCCTAGTGTCCATGGGATAATTCGA
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Task1_train_23813
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Gene ELAC2 (elaC ribonuclease Z 2), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Combined oxidative phosphorylation defect type 17
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CCCTGGCCCTGGGTCTGCCTACTAGGATGACAACCAGAGACTCTGAGGGTGGGGACCTGAGTCTCCTGCCTCTGCTGACGTTTCCCTGCAAGCCCACCTGCATTCACCTCCAGCTACACAAACCCCAGAGCAACCTCAGGGTGGCTTGCTTCTTCCTCTACTCACCCATCCGGACCAGAGCCTCGCAGGGCATGGTGTCCCCGGAATAGACCACTTTCCAGCCAGAGGTGTGCACCAGCGCACAGCCAAACGCATGCTTGCAGTGCCGCACCAGACAGGTCTGAAACTGAAAGGGTGGGGCTGGAGGGCTCTGCAGCTCTGCTCCCCACCTCGCCCCCATGATGCCTGCGGCTGTGCCCCTTACCTCTTCCAAATCACATGTTCGCAACAGCGAACTGATCAATCTTTCCACTGCAGGACTGGAGATCTCAGCCCCTTCCTGAAGGCATTTGGCAGGAATCATACTGTAAAAAGACAAAACATTTAAAATGATAATAAACGTTTCTTGGACATCTGGAACCAAAGTTTAAGTCTTTGGCTGGAGAACCCCAAAATCATTCTTAGGAGAAAACATGAGTTAAATCATAGTCACTATGATGAGGAAACAGCAGTCAAATATAAAGAGCCAAACCAAAGCCTCTAGGCCACTGGGAGAAACCCAGCAGGTGAATGCTGCCTCCGGCTCAGGCAGCACGGGCCACGGATGGCTCCAGCAGAGGGGACTCCTTCCCCTTGGGGTGAGGATGGTGCCACCTGCCAGCTAGCCACACACCTGCTATGGACATTCTCTGTGCTAGCCACTATTTGGGTGCTTGGCTCTGGAACTGTCTCATCAAGAAAAGCTGCTCGAAGTTTAGAAAGCAGCTCAGAACTCAAATGAGGACTGGGAAGAAATGCTTCTAAGAAAATAAGCATTACATGGGAACTATCTAATGGTTTCTGTCCTTCAGCCAATGCACTTCTCCCCTGCTTCTGCCATCTGGGACCATGTCAAGGGCAAGGCTGCTGGGGGATATTGGTAACTACCCCAGTGTCCACCTTGAGCTTCTGAAGGAGACGGCAGCAAGCAACAGCCCAGCGGGCCAGGCTGCCCTGGATGCTCACCTGATGTGGTGCAGGACCTCCTGGCACTGGTTGTGGTACTGCTGGAGCCAGGCTTTGAGCTGGTTGGGGGCAACCACCAGCAAAGGGTGAAGCGGCTTTCCCAAAGATGCCTGGAACAAAAAATGCAAGTGCCGACTCGACGACAGAACATCTCAATAAAAACTGGAGTGCCAAGAGGCATGGCGGATGATGTGTAAACCGCTGAAACTCAGAACGCCCATCAAGTGCCACACTTACCAAGGCGCGTTCTCTCTGCAGCAAGATACTTGGCAAGCCCTGGCAAGGAAACAGGAGACATGCGTCAGCCAGGCCCCAGGGCCATCCCCTCCGGGTTAGGGTCTGCAGCCCTCTCTCTTGCAGGAGTTGCCAGCCCGACGTCACCCACCAGCCTCTAACACAGCCGCAGTGGGGGTGGCACAGGCCGAGCCCCCTGCGCCATGGCCCTGAAATGTCACAGGCAGAAAGCGACACGACCCGTGCTGGGAAGAGGGCAACGGCCCAGGGCCCGGCACCCCAGGAGACCAAGGTGAGGGTCTCATAGCCACACCTCCTGCATCCGGTCAAAGCTTCCGCTGAGCAGGCCGTGTGAGATTCAAGACTCAAGGAAGGCTGGGTAAACTCAAACCTGTCCTGCTGCAGGAAAGGAACTGAACAGGAAGAGAAGACATTCTTGTGGCGCAGAAGGACTATGTTGAGTTTTGCAAAAAACCATTTCCTAGCCAGAGATGAGTAACAAAAGCTCTGGGCAAGTTTGGAAGCGGAGGAAAAGACGCAGCCAAAGGGCCAACTCAACGTGGCAGTGCCTCCTCCAGGCTCCAGCTTTGTGGTCCAGCCCAACACTCACCGTGTGGTGATCTGCGTGCAGGTGGGACACAAACACAGCAGCCAGGGTGCCCAGGACCCTGTCCACCTGGTCTCCGTAATGACGGCACAGCTGCCCAAATGTGCCCTCACCACAGTCCAGTAGCAGAGACGTGTCGGGGCTGCAGAAGAGAAGAGGAAGAGAGTCACTGCCACTAGGAAGACTGCTGATGGTTCAGAGGCTGATGTCTGCTTTGGACAGGACCAAGAAGCAACTGCAGAAATTTCTGTCTCTCCTGCTTTGCTTTGAGGAGCTAATATAAAAGCCAATTAATTTAACCATAAAGGTGATTTTACATGTGTCATCCTCTTTATAGCAAAGAAGTATCCATGGAACCCTGAAACCCTTTCAAGTAGACTTACACAAAGGCTGGGCATCAAAAAAAAAAAAAAAAAGTTTATAGGAGGCTTAAAGCATTTAGTCCTAACAATGAATCTGACCATGCAGATTGACTGTGGCCACAGCCTCTGTTGAAAATACCAGGACAGGCACTGGGCCATATGAGACTCTTTCTAGGTCCAGCTGCCATCGGACTTTTCCCCCTTTGCAAGTGGTCGGGGTTTCCTCAGCTCATGTCCTCAAAGACACCTGGTGCAGGGCGGGCTGCAGGTGCTTCATTCAGGGAGCCAGTTAACGCAGACTCCCAGGTGTCACTCGGGGTTTCTGACTTGGTTTTAGGCAGGGCTCTGGAAGTCTGGATTCTGACAAACTTCTTGGGCTATTCTGCTGTGCAGTCCATTTCAGAAGCTCTGCTCCAAGGCAGAGAGAGTGCTGACCCGCTCTGGCCTCCTTCATTCTCTGGGAGGAGCCACGAACACTGAGAGGGCTGCACCCATTTTGCAGAGAGAAGCCCCGGTGCTAAGACATTACCTTCTGGGGGAAAAAGGAGTCGGGAGGCGGAGGCAAGGTGGCAATAGCACCTTCCCATTAGCTTCAGCTGGTTCAAAAGCTGCTCGCAGGGTGTCAGGTCAAACTCAAAAAGCCCTTCTTCCCCCAGGATCTCAGCCCCCGGGAGAGGCCGGCTCACTCCAAGCTGCTTTATTGCATGTCCTCATCCACAGAGAAACACACCCCAGATTGTATATTTCTGATGTCAGGGCACATCTCGTCACTGCTGTATATATTTAATGCACTATTTGGTTGTTTATCATCCACCACTAGCATGTAAGATGGCAGAGCAAAATTTAAAACAAACCTGGTAATTCACAATCTTATTTTCTTCACATACTATCTGTAGAGATAACGTGTACATGTCACAACGCATTTGACTAATCTCTCTGCTGATGACCCCAGGCAAACCCAAGAGAATCAACTAAAAAACATGTCAAGGGGAATCCAATAAAGGTTCTGAACACAAATGTGCAAAACCCTAAAGCTTTTTAACATACTACCAACAAATGGCTGGGGGACAATACCATGTAGCAATCAAGACCCCAAGTCCCCGCTCAAACTTCAGATGCCCCACTTACCAGCTGTAGGAACCATAGCAAGTCACCTCTCTGAATATCAGGTCACTCATCAACAAAATGGGTAGTTATTCACCACTTCATAGGATTAATGTAAAAATTAAAGGAGCTAATTTCTTAGCTAGGTGTACTGCCCACAGTAAAATCAGCTGTTTATTAAAAGACATCATGGGATGAATTTTGGTGATTCCCAGGGTAAAGTTTGCTACTGAGGCTATAAAATGCAGTAAGGCCACGCTCCTCTCCTGGACACTCCAGTCGACATGACAAGTGACAGGGCTTGATACCGCATTTCAAATCGACTGGTGAGTACAGCAGGACTTTTGTTTAAAAAGTAAACGTGCCCTTGATGGAAGGATGCTTCCTGGGAAAGCAGCATACCTTATGTTGACAAGTGTGGCACTGACATTTCGAATCTTCATCGGGATGGCAGACCCTGTTCCAAGGAAGATGATTTCTGGGTACTGACTTCTTTTCTCTGTGAAAAAATCCATGTGAAACAATCCATTCCTTTGGGTCAAAAGTGAGCCAGCATGCAGCCATGAGAAGGTGCAATGGTTTGAGTGTCATTGGTTTGTCCCCAGACCTCATGTGGAAACGTGCTCCCTAGTATGGCGGTTTTGGGAGGCGGGGCCTAGTGGAAGGCGTTTGGGCTACAGGGACG
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CCCTGGCCCTGGGTCTGCCTACTAGGATGACAACCAGAGACTCTGAGGGTGGGGACCTGAGTCTCCTGCCTCTGCTGACGTTTCCCTGCAAGCCCACCTGCATTCACCTCCAGCTACACAAACCCCAGAGCAACCTCAGGGTGGCTTGCTTCTTCCTCTACTCACCCATCCGGACCAGAGCCTCGCAGGGCATGGTGTCCCCGGAATAGACCACTTTCCAGCCAGAGGTGTGCACCAGCGCACAGCCAAACGCATGCTTGCAGTGCCGCACCAGACAGGTCTGAAACTGAAAGGGTGGGGCTGGAGGGCTCTGCAGCTCTGCTCCCCACCTCGCCCCCATGATGCCTGCGGCTGTGCCCCTTACCTCTTCCAAATCACATGTTCGCAACAGCGAACTGATCAATCTTTCCACTGCAGGACTGGAGATCTCAGCCCCTTCCTGAAGGCATTTGGCAGGAATCATACTGTAAAAAGACAAAACATTTAAAATGATAATAAACGTTTCTTGGACATCTGGAACCAAAGTTTAAGTCTTTGGCTGGAGAACCCCAAAATCATTCTTAGGAGAAAACATGAGTTAAATCATAGTCACTATGATGAGGAAACAGCAGTCAAATATAAAGAGCCAAACCAAAGCCTCTAGGCCACTGGGAGAAACCCAGCAGGTGAATGCTGCCTCCGGCTCAGGCAGCACGGGCCACGGATGGCTCCAGCAGAGGGGACTCCTTCCCCTTGGGGTGAGGATGGTGCCACCTGCCAGCTAGCCACACACCTGCTATGGACATTCTCTGTGCTAGCCACTATTTGGGTGCTTGGCTCTGGAACTGTCTCATCAAGAAAAGCTGCTCGAAGTTTAGAAAGCAGCTCAGAACTCAAATGAGGACTGGGAAGAAATGCTTCTAAGAAAATAAGCATTACATGGGAACTATCTAATGGTTTCTGTCCTTCAGCCAATGCACTTCTCCCCTGCTTCTGCCATCTGGGACCATGTCAAGGGCAAGGCTGCTGGGGGATATTGGTAACTACCCCAGTGTCCACCTTGAGCTTCTGAAGGAGACGGCAGCAAGCAACAGCCCAGCGGGCCAGGCTGCCCTGGATGCTCACCTGATGTGGTGCAGGACCTCCTGGCACTGGTTGTGGTACTGCTGGAGCCAGGCTTTGAGCTGGTTGGGGGCAACCACCAGCAAAGGGTGAAGCGGCTTTCCCAAAGATGCCTGGAACAAAAAATGCAAGTGCCGACTCGACGACAGAACATCTCAATAAAAACTGGAGTGCCAAGAGGCATGGCGGATGATGTGTAAACCGCTGAAACTCAGAACGCCCATCAAGTGCCACACTTACCAAGGCGCGTTCTCTCTGCAGCAAGATACTTGGCAAGCCCTGGCAAGGAAACAGGAGACATGCGTCAGCCAGGCCCCAGGGCCATCCCCTCCGGGTTAGGGTCTGCAGCCCTCTCTCTTGCAGGAGTTGCCAGCCCGACGTCACCCACCAGCCTCTAACACAGCCGCAGTGGGGGTGGCACAGGCCGAGCCCCCTGCGCCATGGCCCTGAAATGTCACAGGCAGAAAGCGACACGACCCGTGCTGGGAAGAGGGCAACGGCCCAGGGCCCGGCACCCCAGGAGACCAAGGTGAGGGTCTCATAGCCACACCTCCTGCATCCGGTCAAAGCTTCCGCTGAGCAGGCCGTGTGAGATTCAAGACTCAAGGAAGGCTGGGTAAACTCAAACCTGTCCTGCTGCAGGAAAGGAACTGAACAGGAAGAGAAGACATTCTTGTGGCGCAGAAGGACTATGTTGAGTTTTGCAAAAAACCATTTCCTAGCCAGAGATGAGTAACAAAAGCTCTGGGCAAGTTTGGAAGCGGAGGAAAAGACGCAGCCAAAGGGCCAACTCAACGTGGCAGTGCCTCCTCCAGGCTCCAGCTTTGTGGTCCAGCCCAACACTCACCGTGTGGTGATCTGCGTGCAGGTGGGACACAAACACAGCAGCCAGGGTGCCCAGGACCCTGTCCACCTGGTCTCCGTAATGACGGCACAGCTGCCCAAATATGCCCTCACCACAGTCCAGTAGCAGAGACGTGTCGGGGCTGCAGAAGAGAAGAGGAAGAGAGTCACTGCCACTAGGAAGACTGCTGATGGTTCAGAGGCTGATGTCTGCTTTGGACAGGACCAAGAAGCAACTGCAGAAATTTCTGTCTCTCCTGCTTTGCTTTGAGGAGCTAATATAAAAGCCAATTAATTTAACCATAAAGGTGATTTTACATGTGTCATCCTCTTTATAGCAAAGAAGTATCCATGGAACCCTGAAACCCTTTCAAGTAGACTTACACAAAGGCTGGGCATCAAAAAAAAAAAAAAAAAGTTTATAGGAGGCTTAAAGCATTTAGTCCTAACAATGAATCTGACCATGCAGATTGACTGTGGCCACAGCCTCTGTTGAAAATACCAGGACAGGCACTGGGCCATATGAGACTCTTTCTAGGTCCAGCTGCCATCGGACTTTTCCCCCTTTGCAAGTGGTCGGGGTTTCCTCAGCTCATGTCCTCAAAGACACCTGGTGCAGGGCGGGCTGCAGGTGCTTCATTCAGGGAGCCAGTTAACGCAGACTCCCAGGTGTCACTCGGGGTTTCTGACTTGGTTTTAGGCAGGGCTCTGGAAGTCTGGATTCTGACAAACTTCTTGGGCTATTCTGCTGTGCAGTCCATTTCAGAAGCTCTGCTCCAAGGCAGAGAGAGTGCTGACCCGCTCTGGCCTCCTTCATTCTCTGGGAGGAGCCACGAACACTGAGAGGGCTGCACCCATTTTGCAGAGAGAAGCCCCGGTGCTAAGACATTACCTTCTGGGGGAAAAAGGAGTCGGGAGGCGGAGGCAAGGTGGCAATAGCACCTTCCCATTAGCTTCAGCTGGTTCAAAAGCTGCTCGCAGGGTGTCAGGTCAAACTCAAAAAGCCCTTCTTCCCCCAGGATCTCAGCCCCCGGGAGAGGCCGGCTCACTCCAAGCTGCTTTATTGCATGTCCTCATCCACAGAGAAACACACCCCAGATTGTATATTTCTGATGTCAGGGCACATCTCGTCACTGCTGTATATATTTAATGCACTATTTGGTTGTTTATCATCCACCACTAGCATGTAAGATGGCAGAGCAAAATTTAAAACAAACCTGGTAATTCACAATCTTATTTTCTTCACATACTATCTGTAGAGATAACGTGTACATGTCACAACGCATTTGACTAATCTCTCTGCTGATGACCCCAGGCAAACCCAAGAGAATCAACTAAAAAACATGTCAAGGGGAATCCAATAAAGGTTCTGAACACAAATGTGCAAAACCCTAAAGCTTTTTAACATACTACCAACAAATGGCTGGGGGACAATACCATGTAGCAATCAAGACCCCAAGTCCCCGCTCAAACTTCAGATGCCCCACTTACCAGCTGTAGGAACCATAGCAAGTCACCTCTCTGAATATCAGGTCACTCATCAACAAAATGGGTAGTTATTCACCACTTCATAGGATTAATGTAAAAATTAAAGGAGCTAATTTCTTAGCTAGGTGTACTGCCCACAGTAAAATCAGCTGTTTATTAAAAGACATCATGGGATGAATTTTGGTGATTCCCAGGGTAAAGTTTGCTACTGAGGCTATAAAATGCAGTAAGGCCACGCTCCTCTCCTGGACACTCCAGTCGACATGACAAGTGACAGGGCTTGATACCGCATTTCAAATCGACTGGTGAGTACAGCAGGACTTTTGTTTAAAAAGTAAACGTGCCCTTGATGGAAGGATGCTTCCTGGGAAAGCAGCATACCTTATGTTGACAAGTGTGGCACTGACATTTCGAATCTTCATCGGGATGGCAGACCCTGTTCCAAGGAAGATGATTTCTGGGTACTGACTTCTTTTCTCTGTGAAAAAATCCATGTGAAACAATCCATTCCTTTGGGTCAAAAGTGAGCCAGCATGCAGCCATGAGAAGGTGCAATGGTTTGAGTGTCATTGGTTTGTCCCCAGACCTCATGTGGAAACGTGCTCCCTAGTATGGCGGTTTTGGGAGGCGGGGCCTAGTGGAAGGCGTTTGGGCTACAGGGACG
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Task1_train_23814
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The gene ELAC2 (elaC ribonuclease Z 2) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Combined oxidative phosphorylation defect type 17
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ATAATGGCATCCCTGCAGGAAGAGAGAGAAGCATCTCAGGTGACGGACAGGGTATATGGCCTCAGCAGACCCCATTGGGGATGTCCAGAATAAATTCAGGGGGACAATCTGCAGGAAGTTCCTTCAGATCAACACTGAAGGTTAAGTGACTAGGATCTGGGGCAGGTCTGCTCCACCGCCTTTTGGATGCTGCATCGCTCTGCCTCAGGGCCAGTCAACGGGGAACTACTGATGCTCAGGGCAAGACAGTTTTTTTCTGTGGCCAGTGCTGCTGTCCTGGTGCAGTACCCCTGACCTCTACCCACTAGCAGCACCACTACCCACCTCCTAGGCTGTGACAACCAAGAACGTTTCCAGATGTTGCCAAATGTCCTCTGAGGGGTCAATGGTCCGAGCTGAGAAGCAGGGGCCCTAGAGGAGTGACTCTGAAACTCATGTTCACACCCAGGAACCTTGGCAAAACGCAGAAGCCAGTTCGGCAGCTCTGCAGTGAGGCCTGAGATCCCACTTTCCTAGCAAGCCCCAGATCACACGGAGTGGCAACTCCTTGGACAGGCGGCTCTTCAACCTCGCTGAGCATTAAAATCATCTGGGAGCTTGTGAGTCCCAAGCCTAACTCTCAAGATTCTAATTCACTAGGTCTAGGGCAGGCCCTGTGCAATATTTTTCACAAGCACAAGGTAAATCTGAATGTCGGCTAGGGCTGTGTATCGCTGCTGTGTGTTAAGAGCCTGCGCAGATGCCAACAAAGGGACACCAGGTTCTTCAACCCCGTGATGTTGCCTGTGGGCCCGAGTCTTGCTAGTATAGTCTCTTAAAGGGCCCCAACTACCCAACCTCAACAGCACACAGCATCCAGTCATAATCCAGCACATGCTCTATTCTAATACAAATACTGTGGAGTGGGCAGGAAACTTAAAATCAAGGTTCAGATCCTTAAAAATTAAAACAGGCCGGGCACGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGCCAACATGGTGAAACCCGTCTCTGCTAAAATTACAAAAAATTAGCCGGGCGTGGTAGCAGGCGCCTGTAATTCCAGCTATTCGGGAGGCTGGGGCAGGAGAAATGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAATAAATAAATAAATAAAATAAATAAATTAATTAATTAAAATAAAGATGTGGGGCAGTAAGGCTGTTCACTTTCCTGGTTGGATTGTACTGGAAGAGGCTTTCAAGATGGCATCTTACATTTATCAAGTACCTTAACAAGTCTCACACTCTGGGCCAGTAATCCCACATTTAGGAATGACTTGAAGGGAACAGAGTTCCCATCAAAGATTTATATATAAGACATTTATTGTTTCATTCATTAAAAACAACAAAAAATTGGAAACATCCCAAATGAGTAAACATCCCTATTTGGAATACCAATAAAAATCTTGTTACTTAAGACTGTTTAGTGATACAGGAAAAGACTGACAATATAAACCCACATACACAAATCAAGAAACACAAAATGTTATCAATCATTATCTCTGGGCAACAGGATTATGGGTGACTTTGTTCATCACACATTTCCTATTTTCTATACTGTGAAACACACGAGCTCTATCACTGCTATTCCCATGCAAGGCAATTTTGGAAAAGGAGAACTACTGGCCCCAATCCGCCCACCTCAACCCAGCCTGGAGTAGGCTGCTTTTCTAAATAAATTCACGCTGGCACACAGCCAAGCCCATTCATTAGCTTATTGTCCGTGTTTCTTTTGTGCTCAAAGCGGAGTTGAATAGTTACAACAGAGACCATATGGTCTGGAGAGCCTCCTGGAACATTTACTATGTGGCTATTTACAGAAATGTTTCCCAACTCGACTGAGACGATTCCATTAGTTCAAGATGGCACAGACCTCTGCCACTCCCTCCTGGGACGGAGCTGGTACTTGAGGAGGCATTCACCCTGAACCATGGGCACACTGAGGGTGGGGCCCTCCTTCTGAAAGAGACAAAACACATTCATGGAGAGAAAGAGAGGGGACGAGAGCTGGGCCGACAAGGGGCCGGTCTGAGACACTACCTTACAGCGGAAACTGGTGAGCAGGGGGAAGATGTCCGGGTGGATGAGGTTGAGCTGGGTTTGAATCTTGTGGCTGCGAAGGTTGTGAACTGAGGCACAGTTCTCATTCAGGACCAAGTGCTGGGTGTCAGGCCCAAACCTGTGAAGAAACAGACCCGGCATTTGCAGCGTCTGTTAGGAGGCAGCTCCCCCTGAGGAGTGGTGCTGAGCTCAGGAGTGGTAATGAGGATGAGGTGTTCAAACAGTTCAGTGACTTGCCCCAAGCAGTGTTACTACATGGCCAAACATGGTCCCACTCCTGCTGTCTCAAAGCCCGGTGTTCCCTAGCTCAGCTGCCTTTCAGGTGTGCTGGGAAGAGTGAGAGGAAAAACAAGAAAAAGAAGATGTCCAGGGCATACAAATAGGGGACCCAAACCCTGAGGAATGAAAGAGACAGCAGGAGAGCAGGCCATGGAGTGAGGGGCAGGTAAACGGGCCATGTGGGGAGATACGGGCAGGGGCCAAAAAGCAGCCCAAGGTCACCCCGCACCCGAGCTCAACTCATACTCCTCCACCTGGCCCTGGCCAGCGATGCCCCGAGGAAAAAGATGCCTTCCAGTGACTAAACATCTACCTCCCAGGGCTGCTGGCGACGACCCTAGAGGAAATGAAGTGAAATGAAGGGTATTTCACACACTGCCTCCCACAAAGTGGGCATTCAGTAAATGGAAGCTATCATTTTATAGCTGCAATCTCTTCTTTGGAATTCACTTATGGAATCCTCAACCAAACGGCAGTATTTGTTCAGACACCCTGAAGAGTGTGGAGGGTGTAAAATAAATGGAATCGTGTGGACACTGCGCCACCTAGCGGTGCATTTTCTTCACGAGTGTAGCACAGATCTGGGAAGCCTAGAATTCTGGGAAGGCAGGAATCCCACAGAAAGTTTAGGCAGGTGCAGAAGGGTAGGTAGCGCTGGAAAGAGCACGAGGGGAGGAAAGGGGAATCCACCACTGCCCAGAAGAGTTACCCCAAGTGCCGCTGGGCTGGGCTCCATACCTCTCCATCCACTGCTGGTACCTGCTGTCCACAAGCACAGATGCTGGGGCCATGTGAACCACCAAGGCCACGGGGGCATCTGCCTTTCCTTGGTACCTGGGCAGAAGAGTGGGGCTTTACAAAGTGATGCAGACTCAGGACACACCAAGACAGGGACCACGCAGCCAGGGAGGGGTATCGTGCGGCCCTCTGCAGCACTGCAGTGAGCTGACAGCCTCCACGCCCAGGCCATGCTCTCACAGCAGGCTGCTCACGGCAGACCCCGGTGCTGGGCCATTTCCAATGGACGTGGGATTCCTGTATCTGGCAAGCTCTGCTCTGGGCTTTCCAGTAGGCCTGGCTGATCCTTTCTCAGCACTGCACTTCCTTCCTACCCTCTCCACTCATACGGGTCCAACCTGCAAAGCCAGACCCAGGCTCTCCCTGCCTCCTCCTGCTCCCTCTCTCCTTCCTCTCTCACAGTCAAATTTCCTCGAATAAACCTCCTGCACCTCCAATGCCACCCTGGTGTCTGCCTTCCAGAGGACCTGAGACACAGGCACGAGAAATGAAAATCATCTGAAATTTCACCACCTGGACAACAGACCACTTACTAACATGCTGATGTGTTTCCCTCCAGTTCCCTTTAAAAAGAAATATACACAGTAGCTATTTTTATCTATCCCAGCATCATCACACATCCACACATGGCTCTCAAATGACACCTGATTCATTGAAGAGGTTTTGCTGCCCAAAACTGGATTAAAATACAAAGCCGGGGCTACCAGCGCATCCAAATTCACCCACAGAGAATAAAGCAGACCATGAAACAACTCCTAACGCTCTGACTCGGAAGGGGTACAGCAGCCCAAAAGGATTTGTTGTGGTAAGTAGAAAAAAA
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ATAATGGCATCCCTGCAGGAAGAGAGAGAAGCATCTCAGGTGACGGACAGGGTATATGGCCTCAGCAGACCCCATTGGGGATGTCCAGAATAAATTCAGGGGGACAATCTGCAGGAAGTTCCTTCAGATCAACACTGAAGGTTAAGTGACTAGGATCTGGGGCAGGTCTGCTCCACCGCCTTTTGGATGCTGCATCGCTCTGCCTCAGGGCCAGTCAACGGGGAACTACTGATGCTCAGGGCAAGACAGTTTTTTTCTGTGGCCAGTGCTGCTGTCCTGGTGCAGTACCCCTGACCTCTACCCACTAGCAGCACCACTACCCACCTCCTAGGCTGTGACAACCAAGAACGTTTCCAGATGTTGCCAAATGTCCTCTGAGGGGTCAATGGTCCGAGCTGAGAAGCAGGGGCCCTAGAGGAGTGACTCTGAAACTCATGTTCACACCCAGGAACCTTGGCAAAACGCAGAAGCCAGTTCGGCAGCTCTGCAGTGAGGCCTGAGATCCCACTTTCCTAGCAAGCCCCAGATCACACGGAGTGGCAACTCCTTGGACAGGCGGCTCTTCAACCTCGCTGAGCATTAAAATCATCTGGGAGCTTGTGAGTCCCAAGCCTAACTCTCAAGATTCTAATTCACTAGGTCTAGGGCAGGCCCTGTGCAATATTTTTCACAAGCACAAGGTAAATCTGAATGTCGGCTAGGGCTGTGTATCGCTGCTGTGTGTTAAGAGCCTGCGCAGATGCCAACAAAGGGACACCAGGTTCTTCAACCCCGTGATGTTGCCTGTGGGCCCGAGTCTTGCTAGTATAGTCTCTTAAAGGGCCCCAACTACCCAACCTCAACAGCACACAGCATCCAGTCATAATCCAGCACATGCTCTATTCTAATACAAATACTGTGGAGTGGGCAGGAAACTTAAAATCAAGGTTCAGATCCTTAAAAATTAAAACAGGCCGGGCACGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGCCAACATGGTGAAACCCGTCTCTGCTAAAATTACAAAAAATTAGCCGGGCGTGGTAGCAGGCGCCTGTAATTCCAGCTATTCGGGAGGCTGGGGCAGGAGAAATGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAATAAATAAATAAATAAAATAAATAAATTAATTAATTAAAATAAAGATGTGGGGCAGTAAGGCTGTTCACTTTCCTGGTTGGATTGTACTGGAAGAGGCTTTCAAGATGGCATCTTACATTTATCAAGTACCTTAACAAGTCTCACACTCTGGGCCAGTAATCCCACATTTAGGAATGACTTGAAGGGAACAGAGTTCCCATCAAAGATTTATATATAAGACATTTATTGTTTCATTCATTAAAAACAACAAAAAATTGGAAACATCCCAAATGAGTAAACATCCCTATTTGGAATACCAATAAAAATCTTGTTACTTAAGACTGTTTAGTGATACAGGAAAAGACTGACAATATAAACCCACATACACAAATCAAGAAACACAAAATGTTATCAATCATTATCTCTGGGCAACAGGATTATGGGTGACTTTGTTCATCACACATTTCCTATTTTCTATACTGTGAAACACACGAGCTCTATCACTGCTATTCCCATGCAAGGCAATTTTGGAAAAGGAGAACTACTGGCCCCAATCCGCCCACCTCAACCCAGCCTGGAGTAGGCTGCTTTTCTAAATAAATTCACGCTGGCACACAGCCAAGCCCATTCATTAGCTTATTGTCCGTGTTTCTTTTGTGCTCAAAGCGGAGTTGAATAGTTACAACAGAGACCATATGGTCTGGAGAGCCTCCTGGAACATTTACTATGTGGCTATTTACAGAAATGTTTCCCAACTCGACTGAGACGATTCCATTAGTTCAAGATGGCACAGACCTCTGCCACTCCCTCCTGGGACGGAGCTGGTACTTGAAGAGGCATTCACCCTGAACCATGGGCACACTGAGGGTGGGGCCCTCCTTCTGAAAGAGACAAAACACATTCATGGAGAGAAAGAGAGGGGACGAGAGCTGGGCCGACAAGGGGCCGGTCTGAGACACTACCTTACAGCGGAAACTGGTGAGCAGGGGGAAGATGTCCGGGTGGATGAGGTTGAGCTGGGTTTGAATCTTGTGGCTGCGAAGGTTGTGAACTGAGGCACAGTTCTCATTCAGGACCAAGTGCTGGGTGTCAGGCCCAAACCTGTGAAGAAACAGACCCGGCATTTGCAGCGTCTGTTAGGAGGCAGCTCCCCCTGAGGAGTGGTGCTGAGCTCAGGAGTGGTAATGAGGATGAGGTGTTCAAACAGTTCAGTGACTTGCCCCAAGCAGTGTTACTACATGGCCAAACATGGTCCCACTCCTGCTGTCTCAAAGCCCGGTGTTCCCTAGCTCAGCTGCCTTTCAGGTGTGCTGGGAAGAGTGAGAGGAAAAACAAGAAAAAGAAGATGTCCAGGGCATACAAATAGGGGACCCAAACCCTGAGGAATGAAAGAGACAGCAGGAGAGCAGGCCATGGAGTGAGGGGCAGGTAAACGGGCCATGTGGGGAGATACGGGCAGGGGCCAAAAAGCAGCCCAAGGTCACCCCGCACCCGAGCTCAACTCATACTCCTCCACCTGGCCCTGGCCAGCGATGCCCCGAGGAAAAAGATGCCTTCCAGTGACTAAACATCTACCTCCCAGGGCTGCTGGCGACGACCCTAGAGGAAATGAAGTGAAATGAAGGGTATTTCACACACTGCCTCCCACAAAGTGGGCATTCAGTAAATGGAAGCTATCATTTTATAGCTGCAATCTCTTCTTTGGAATTCACTTATGGAATCCTCAACCAAACGGCAGTATTTGTTCAGACACCCTGAAGAGTGTGGAGGGTGTAAAATAAATGGAATCGTGTGGACACTGCGCCACCTAGCGGTGCATTTTCTTCACGAGTGTAGCACAGATCTGGGAAGCCTAGAATTCTGGGAAGGCAGGAATCCCACAGAAAGTTTAGGCAGGTGCAGAAGGGTAGGTAGCGCTGGAAAGAGCACGAGGGGAGGAAAGGGGAATCCACCACTGCCCAGAAGAGTTACCCCAAGTGCCGCTGGGCTGGGCTCCATACCTCTCCATCCACTGCTGGTACCTGCTGTCCACAAGCACAGATGCTGGGGCCATGTGAACCACCAAGGCCACGGGGGCATCTGCCTTTCCTTGGTACCTGGGCAGAAGAGTGGGGCTTTACAAAGTGATGCAGACTCAGGACACACCAAGACAGGGACCACGCAGCCAGGGAGGGGTATCGTGCGGCCCTCTGCAGCACTGCAGTGAGCTGACAGCCTCCACGCCCAGGCCATGCTCTCACAGCAGGCTGCTCACGGCAGACCCCGGTGCTGGGCCATTTCCAATGGACGTGGGATTCCTGTATCTGGCAAGCTCTGCTCTGGGCTTTCCAGTAGGCCTGGCTGATCCTTTCTCAGCACTGCACTTCCTTCCTACCCTCTCCACTCATACGGGTCCAACCTGCAAAGCCAGACCCAGGCTCTCCCTGCCTCCTCCTGCTCCCTCTCTCCTTCCTCTCTCACAGTCAAATTTCCTCGAATAAACCTCCTGCACCTCCAATGCCACCCTGGTGTCTGCCTTCCAGAGGACCTGAGACACAGGCACGAGAAATGAAAATCATCTGAAATTTCACCACCTGGACAACAGACCACTTACTAACATGCTGATGTGTTTCCCTCCAGTTCCCTTTAAAAAGAAATATACACAGTAGCTATTTTTATCTATCCCAGCATCATCACACATCCACACATGGCTCTCAAATGACACCTGATTCATTGAAGAGGTTTTGCTGCCCAAAACTGGATTAAAATACAAAGCCGGGGCTACCAGCGCATCCAAATTCACCCACAGAGAATAAAGCAGACCATGAAACAACTCCTAACGCTCTGACTCGGAAGGGGTACAGCAGCCCAAAAGGATTTGTTGTGGTAAGTAGAAAAAAA
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Task1_train_23815
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A change on Chromosome 17 affects gene ELAC2 (elaC ribonuclease Z 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Combined oxidative phosphorylation defect type 17
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CAGGAGGAGCAAGCCAGGCAATGGGAGTGCTGATCAGCTCATCACAGCACTGGCCTAGGAGCACTTGTGCCATTGCTCCGGCACATTCCTCTCCTCCCTGCTGCCTTCTGCCTTCAGTCAGTGTAAGCCTCATCTCCTCGCCAGGTTCTGGACTTCTCTGGCCTTTGCTGGGTGCTCTGGTCTGTCACCCATCAGCACTACTTAGTAAGCATCACATTAGTTAGTACTAACAAGGAAATACCCCTACTGCTTGGTACTCTCTTCACATGTAAGTAAAACCAGACATGAATGTCTTTAGCCAAGTTCAAGGACAAGACTAACTCTTTTCCTAAGCTAAGACCACATCATCTGGCCCTGATACTTCGGAATTTGCAGGAGCTTCTAACCCCCAACAACACTTCTTTTAGGTTGCTGTAATCATTATTTATTTAAAAAAATCTATCTGTGCAAACCTCTTCATGATCGTCTGATCAAAAGAGGGTATTACGCCTGTGGGAAAAAACCTCCAAGCAATGAATGTGCAAACTTGAATGCAATCTATTTACCAACAGTGCTTGATTATCTAATATTCCAAAGCATAATCACTATCATTAGGCATAAGTCAGACATCCGTAAGTTTATAAGCCAGGGCAGGAGCCATATCTTCATTCCTCAACTAAATTTTCTAATCATGCTCAGAACACAAAACAGGGTGCCCACAGCAAGTGTTCAGTTTCTATTTTCATCCATGTTTTCTTTACTCAGGACGTACACCCTCCTCCTGGGAAACCTGGCTTTCATACTCACTGTGTATGGGGATCTGGTAAACTGTCATGGTTTCATCCTCGTATTCTGGGGCAGAGTGGGGCCGCACAGCTACAAGAAAACCACACAACAGCAAAGTGATTGCATTAGTGAAGATGTGTGGGAAGAGTAACTTCAGGATCACCAACCACGAGCAACTGAATTGCCTCAGAATTATGGTGGGAATCTGACACGAAAACCAGACTTTCTAAGGAGATTACCATTTTTAGGAAATAAATAAAAGTGTATTTTGGTCAGCCATTTATATTTACTACAGCCAGATGAAAAGACATTATAATCTTTGGTGACTATCCGTTAAAAATTGAAAAACAAGAAACTAGTACTCAACTTTCAGAGACCCAAGTTAACAAACAGAATAGTGAAGCCAGGGAACCTATCATCGCAAACCAGAAGAGCTGATGTATATTTTGAAACAAAGTATTAGTGTTTCTATAAAAGAGGAGTATTAACAAGCCACAGATACACACCAGTGCCAGGACAAGAGCCCTACTAGCATCCTCAGTGAGGCCTCTTCCCATCAAGAGGCTGTAAGCCCCCCTGCGCAGCTGGAGCTGCGTTTCAATGTACAAAGTTGGCCACAAAACCTCTAGGGAACCCTTGTCACCCCCGCCCCCAACTCAAAGCAACTCAACGACGAGAAGCACCTCTGGAACTGAGGCAGGAGCCCTGCCGTCTGGATGGAGAATGCCACACAGCATGTACACAGGCAGGCATCAGCTGTTCAATCACTCCTGCCGACCTGGCCCCTATTTTTACAGCATGAGGTGGGAACACAGAAAATGTCACTATTTAGAAATCCCATCTCCAGCCACATGGTAGCTCATTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGAGCGTGATGGCATGCGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTGGGAGAATGGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGTAAGAAAGCAAGACTCTATCCAAAAAAAAAAAAAAAAAAAAAAATCTCGTGGTGATGAAGCATTTGATTTTGAGGTTTGATGTTGATGTTTTTAATGGATTCTAATTTGAGAGGTCAGGGCATATATAAGTTAGAAATAGCAGAGGATGAGTCACAGACAAAGACGTACCCAGTTCTATTCCTTTCAATGGACCAGAAAATATTTTGATTGCTTCGAGGTATTTTTCCTAATGAAAAACAAAGAAATGAGCAGTTATGGTTGAACAAATGTAGAACACAGCAACTATTCAAGTATTTAAAAGGTTACCAATAGGTATCAACATAAAACAAAGCTTAGTAAATATTTTGAACATCATTTATTACAAATATTTACTGAGTATCCATTATATCAGATGCCAAGGATATAGCAGGAAAAAGAGATGGAGGCCTTGCTCTAATCAGGCCAGTGGAGGAGACAAAAGGAAACACGATAACAGAAACAGCTTAGTGGCATTATGCTAAGTGCTCTGCAAGGAAAATGAAAAATACAGAAGGCTGGGATCCAACTTGTCTAGAGAAGAAGAGGCAGTTCTGGAGTAAATGACCCTCTAGCTGAGCCCTGAAGGTTCAGTAACAATATAGGCAGCAATTAGAAGAGGCAGAGGGAACCCGCGGAAGGGCGAAAGTCCTGAAGTGGCCAGGGAGTTAGAGGGACATAAGAGTCAGCCCATGCAGCTGCAGTTCAGCGATGGGTACAGATGGAAGTGTGGGTAGCGGCCGGGGCCTACAGGACTTGTAGGCCATATCAAGGTGTTTTGATTGTATTGCAATGGGGAGCCCATGAAGGGCTTTAGGGTGGCAAGTGACACACTACTTTTCTGTCTTGAAGTGACCTCTCTGGCTGCTGTGTGGCAGATGGATTACAGGAAGGCGAGAATGAATATGGGAGGCTATTGTAGTTTACAGGCATAGAAAACAGAAATAAGGAAGGCCTCAATAAGAGACAAATGGATGGATTTCAAACGTTATTTTGGGGAAAGACTTAACAGGTCTTGGTGACTTTCTTCTTAAGGACTGGAAAATGAACTGTTATATTCAACAACACACACACGCCTTCTCAAGAGTGTAATAAGCTGGACTGAAAGGTAAGAAGATGTCAGAAATTTATTGAATAAAAACAAAAGCTGCCCTTTCTTGTGTGCCTACTTGGTGCCAAACATATATCTAATAAAGTGATTTAGTGCTTTATATGTGCTGCTACGTCATTTAATCTTTAACAACTCTATGAAACGTGATAGTCATCTTATAGATGAATAAACTAAAGCTCAGAAAGGTAAAGTAACTTGATCAAGGTCACATAGTTAATCAGAACTCAAGTCTTTTTAACTTGAAAGGGGAAGCGTTTCAACGACCAGGTATCTCTGGAGGGCAGAAGACTGATTTGCAAAAAGGAAAATTCTTGTTACTGATATTACAAAAGGAAAGATTGCTTTTGAAAGATGTGTCAGGAAAGACTCACCAGTTGTGGAGGTCCAGAAAGTACACACTTTGGAAGCCCGGTTTCCTTTAAAGTAAGAATCATTCCTAAAAAGGATGCATAAAATCAGATCTCTCATCAATTTGACCTGTCGTCACTAACAGGAGGAGCACCCCGTACTAATCCAACTATTTATCTACATCTCCACCTTCCAGCTTTGGAAGTACAACCAGGGAAGATGTACAGAGCAGAAGTGATGCCAGCTAGAGGTGTAACAGACACCAAATATTCTTTAAATGCCTCTAGAATGGGCTGAGCTGTCACTAGGGTGAAGCAGCAAGGCACCCAGTGTGCAAAATGTAAGGAATCATGCAAGTGAAGGGCTGGCACCCTAAGTGCCTCACCCTAGTCTCAGCCCTGAGAAGGGAGACTGGTCTAACACTTCACTCCTTCCGGTCCATGCCACCAAGCCCACACAATTTGGCTGCAACACAATCCTGACCTTCCGGTTGATAGACATAAATGACAGGGTAATCTGGACAGTGGGTATGTGTGTGGCTGCCAATGTGCCAATGGCGTCTGCGGTAAACATATTAACTGTAATCACCACTGCTAGACTCTCCAGTTTACTGCCACAAATCTCTGTCCCCGCAACGCAAGAAACTAAGTGGATGGTAACACTTAAGAGGTGGTATCCATATTAAAATCTGTTCTCCTGAGTCACAGCTTTTAATGCTCTGTGCTGCTGCTGACTGGGCTGGTATAAAAAGAATTCCAGGCCAGGTGCGGTG
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CAGGAGGAGCAAGCCAGGCAATGGGAGTGCTGATCAGCTCATCACAGCACTGGCCTAGGAGCACTTGTGCCATTGCTCCGGCACATTCCTCTCCTCCCTGCTGCCTTCTGCCTTCAGTCAGTGTAAGCCTCATCTCCTCGCCAGGTTCTGGACTTCTCTGGCCTTTGCTGGGTGCTCTGGTCTGTCACCCATCAGCACTACTTAGTAAGCATCACATTAGTTAGTACTAACAAGGAAATACCCCTACTGCTTGGTACTCTCTTCACATGTAAGTAAAACCAGACATGAATGTCTTTAGCCAAGTTCAAGGACAAGACTAACTCTTTTCCTAAGCTAAGACCACATCATCTGGCCCTGATACTTCGGAATTTGCAGGAGCTTCTAACCCCCAACAACACTTCTTTTAGGTTGCTGTAATCATTATTTATTTAAAAAAATCTATCTGTGCAAACCTCTTCATGATCGTCTGATCAAAAGAGGGTATTACGCCTGTGGGAAAAAACCTCCAAGCAATGAATGTGCAAACTTGAATGCAATCTATTTACCAACAGTGCTTGATTATCTAATATTCCAAAGCATAATCACTATCATTAGGCATAAGTCAGACATCCGTAAGTTTATAAGCCAGGGCAGGAGCCATATCTTCATTCCTCAACTAAATTTTCTAATCATGCTCAGAACACAAAACAGGGTGCCCACAGCAAGTGTTCAGTTTCTATTTTCATCCATGTTTTCTTTACTCAGGACGTACACCCTCCTCCTGGGAAACCTGGCTTTCATACTCACTGTGTATGGGGATCTGGTAAACTGTCATGGTTTCATCCTCGTATTCTGGGGCAGAGTGGGGCCGCACAGCTACAAGAAAACCACACAACAGCAAAGTGATTGCATTAGTGAAGATGTGTGGGAAGAGTAACTTCAGGATCACCAACCACGAGCAACTGAATTGCCTCAGAATTATGGTGGGAATCTGACACGAAAACCAGACTTTCTAAGGAGATTACCATTTTTAGGAAATAAATAAAAGTGTATTTTGGTCAGCCATTTATATTTACTACAGCCAGATGAAAAGACATTATAATCTTTGGTGACTATCCGTTAAAAATTGAAAAACAAGAAACTAGTACTCAACTTTCAGAGACCCAAGTTAACAAACAGAATAGTGAAGCCAGGGAACCTATCATCGCAAACCAGAAGAGCTGATGTATATTTTGAAACAAAGTATTAGTGTTTCTATAAAAGAGGAGTATTAACAAGCCACAGATACACACCAGTGCCAGGACAAGAGCCCTACTAGCATCCTCAGTGAGGCCTCTTCCCATCAAGAGGCTGTAAGCCCCCCTGCGCAGCTGGAGCTGCGTTTCAATGTACAAAGTTGGCCACAAAACCTCTAGGGAACCCTTGTCACCCCCGCCCCCAACTCAAAGCAACTCAACGACGAGAAGCACCTCTGGAACTGAGGCAGGAGCCCTGCCGTCTGGATGGAGAATGCCACACAGCATGTACACAGGCAGGCATCAGCTGTTCAATCACTCCTGCCGACCTGGCCCCTATTTTTACAGCATGAGGTGGGAACACAGAAAATGTCACTATTTAGAAATCCCATCTCCAGCCACATGGTAGCTCATTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGAGCGTGATGGCATGCGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTGGGAGAATGGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGTAAGAAAGCAAGACTCTATCCAAAAAAAAAAAAAAAAAAAAAAATCTCGTGGTGATGAAGCATTTGATTTTGAGGTTTGATGTTGATGTTTTTAATGGATTCTAATTTGAGAGGTCAGGGCATATATAAGTTAGAAATAGCAGAGGATGAGTCACAGACAAAGACGTACCCAGTTCTATTCCTTTCAATGGACCAGAAAGTATTTTGATTGCTTCGAGGTATTTTTCCTAATGAAAAACAAAGAAATGAGCAGTTATGGTTGAACAAATGTAGAACACAGCAACTATTCAAGTATTTAAAAGGTTACCAATAGGTATCAACATAAAACAAAGCTTAGTAAATATTTTGAACATCATTTATTACAAATATTTACTGAGTATCCATTATATCAGATGCCAAGGATATAGCAGGAAAAAGAGATGGAGGCCTTGCTCTAATCAGGCCAGTGGAGGAGACAAAAGGAAACACGATAACAGAAACAGCTTAGTGGCATTATGCTAAGTGCTCTGCAAGGAAAATGAAAAATACAGAAGGCTGGGATCCAACTTGTCTAGAGAAGAAGAGGCAGTTCTGGAGTAAATGACCCTCTAGCTGAGCCCTGAAGGTTCAGTAACAATATAGGCAGCAATTAGAAGAGGCAGAGGGAACCCGCGGAAGGGCGAAAGTCCTGAAGTGGCCAGGGAGTTAGAGGGACATAAGAGTCAGCCCATGCAGCTGCAGTTCAGCGATGGGTACAGATGGAAGTGTGGGTAGCGGCCGGGGCCTACAGGACTTGTAGGCCATATCAAGGTGTTTTGATTGTATTGCAATGGGGAGCCCATGAAGGGCTTTAGGGTGGCAAGTGACACACTACTTTTCTGTCTTGAAGTGACCTCTCTGGCTGCTGTGTGGCAGATGGATTACAGGAAGGCGAGAATGAATATGGGAGGCTATTGTAGTTTACAGGCATAGAAAACAGAAATAAGGAAGGCCTCAATAAGAGACAAATGGATGGATTTCAAACGTTATTTTGGGGAAAGACTTAACAGGTCTTGGTGACTTTCTTCTTAAGGACTGGAAAATGAACTGTTATATTCAACAACACACACACGCCTTCTCAAGAGTGTAATAAGCTGGACTGAAAGGTAAGAAGATGTCAGAAATTTATTGAATAAAAACAAAAGCTGCCCTTTCTTGTGTGCCTACTTGGTGCCAAACATATATCTAATAAAGTGATTTAGTGCTTTATATGTGCTGCTACGTCATTTAATCTTTAACAACTCTATGAAACGTGATAGTCATCTTATAGATGAATAAACTAAAGCTCAGAAAGGTAAAGTAACTTGATCAAGGTCACATAGTTAATCAGAACTCAAGTCTTTTTAACTTGAAAGGGGAAGCGTTTCAACGACCAGGTATCTCTGGAGGGCAGAAGACTGATTTGCAAAAAGGAAAATTCTTGTTACTGATATTACAAAAGGAAAGATTGCTTTTGAAAGATGTGTCAGGAAAGACTCACCAGTTGTGGAGGTCCAGAAAGTACACACTTTGGAAGCCCGGTTTCCTTTAAAGTAAGAATCATTCCTAAAAAGGATGCATAAAATCAGATCTCTCATCAATTTGACCTGTCGTCACTAACAGGAGGAGCACCCCGTACTAATCCAACTATTTATCTACATCTCCACCTTCCAGCTTTGGAAGTACAACCAGGGAAGATGTACAGAGCAGAAGTGATGCCAGCTAGAGGTGTAACAGACACCAAATATTCTTTAAATGCCTCTAGAATGGGCTGAGCTGTCACTAGGGTGAAGCAGCAAGGCACCCAGTGTGCAAAATGTAAGGAATCATGCAAGTGAAGGGCTGGCACCCTAAGTGCCTCACCCTAGTCTCAGCCCTGAGAAGGGAGACTGGTCTAACACTTCACTCCTTCCGGTCCATGCCACCAAGCCCACACAATTTGGCTGCAACACAATCCTGACCTTCCGGTTGATAGACATAAATGACAGGGTAATCTGGACAGTGGGTATGTGTGTGGCTGCCAATGTGCCAATGGCGTCTGCGGTAAACATATTAACTGTAATCACCACTGCTAGACTCTCCAGTTTACTGCCACAAATCTCTGTCCCCGCAACGCAAGAAACTAAGTGGATGGTAACACTTAAGAGGTGGTATCCATATTAAAATCTGTTCTCCTGAGTCACAGCTTTTAATGCTCTGTGCTGCTGCTGACTGGGCTGGTATAAAAAGAATTCCAGGCCAGGTGCGGTG
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Task1_train_23816
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This is a variant in ELAC2 (elaC ribonuclease Z 2), located on Chromosome 17. Is this mutation a likely cause of disease or not?
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Pathogenic; Prostate cancer, hereditary, 2, susceptibility to
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CAGGAGGAGCAAGCCAGGCAATGGGAGTGCTGATCAGCTCATCACAGCACTGGCCTAGGAGCACTTGTGCCATTGCTCCGGCACATTCCTCTCCTCCCTGCTGCCTTCTGCCTTCAGTCAGTGTAAGCCTCATCTCCTCGCCAGGTTCTGGACTTCTCTGGCCTTTGCTGGGTGCTCTGGTCTGTCACCCATCAGCACTACTTAGTAAGCATCACATTAGTTAGTACTAACAAGGAAATACCCCTACTGCTTGGTACTCTCTTCACATGTAAGTAAAACCAGACATGAATGTCTTTAGCCAAGTTCAAGGACAAGACTAACTCTTTTCCTAAGCTAAGACCACATCATCTGGCCCTGATACTTCGGAATTTGCAGGAGCTTCTAACCCCCAACAACACTTCTTTTAGGTTGCTGTAATCATTATTTATTTAAAAAAATCTATCTGTGCAAACCTCTTCATGATCGTCTGATCAAAAGAGGGTATTACGCCTGTGGGAAAAAACCTCCAAGCAATGAATGTGCAAACTTGAATGCAATCTATTTACCAACAGTGCTTGATTATCTAATATTCCAAAGCATAATCACTATCATTAGGCATAAGTCAGACATCCGTAAGTTTATAAGCCAGGGCAGGAGCCATATCTTCATTCCTCAACTAAATTTTCTAATCATGCTCAGAACACAAAACAGGGTGCCCACAGCAAGTGTTCAGTTTCTATTTTCATCCATGTTTTCTTTACTCAGGACGTACACCCTCCTCCTGGGAAACCTGGCTTTCATACTCACTGTGTATGGGGATCTGGTAAACTGTCATGGTTTCATCCTCGTATTCTGGGGCAGAGTGGGGCCGCACAGCTACAAGAAAACCACACAACAGCAAAGTGATTGCATTAGTGAAGATGTGTGGGAAGAGTAACTTCAGGATCACCAACCACGAGCAACTGAATTGCCTCAGAATTATGGTGGGAATCTGACACGAAAACCAGACTTTCTAAGGAGATTACCATTTTTAGGAAATAAATAAAAGTGTATTTTGGTCAGCCATTTATATTTACTACAGCCAGATGAAAAGACATTATAATCTTTGGTGACTATCCGTTAAAAATTGAAAAACAAGAAACTAGTACTCAACTTTCAGAGACCCAAGTTAACAAACAGAATAGTGAAGCCAGGGAACCTATCATCGCAAACCAGAAGAGCTGATGTATATTTTGAAACAAAGTATTAGTGTTTCTATAAAAGAGGAGTATTAACAAGCCACAGATACACACCAGTGCCAGGACAAGAGCCCTACTAGCATCCTCAGTGAGGCCTCTTCCCATCAAGAGGCTGTAAGCCCCCCTGCGCAGCTGGAGCTGCGTTTCAATGTACAAAGTTGGCCACAAAACCTCTAGGGAACCCTTGTCACCCCCGCCCCCAACTCAAAGCAACTCAACGACGAGAAGCACCTCTGGAACTGAGGCAGGAGCCCTGCCGTCTGGATGGAGAATGCCACACAGCATGTACACAGGCAGGCATCAGCTGTTCAATCACTCCTGCCGACCTGGCCCCTATTTTTACAGCATGAGGTGGGAACACAGAAAATGTCACTATTTAGAAATCCCATCTCCAGCCACATGGTAGCTCATTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGAGCGTGATGGCATGCGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTGGGAGAATGGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGTAAGAAAGCAAGACTCTATCCAAAAAAAAAAAAAAAAAAAAAAATCTCGTGGTGATGAAGCATTTGATTTTGAGGTTTGATGTTGATGTTTTTAATGGATTCTAATTTGAGAGGTCAGGGCATATATAAGTTAGAAATAGCAGAGGATGAGTCACAGACAAAGACGTACCCAGTTCTATTCCTTTCAATGGACCAGAAAATATTTTGATTGCTTCGAGGTATTTTTCCTAATGAAAAACAAAGAAATGAGCAGTTATGGTTGAACAAATGTAGAACACAGCAACTATTCAAGTATTTAAAAGGTTACCAATAGGTATCAACATAAAACAAAGCTTAGTAAATATTTTGAACATCATTTATTACAAATATTTACTGAGTATCCATTATATCAGATGCCAAGGATATAGCAGGAAAAAGAGATGGAGGCCTTGCTCTAATCAGGCCAGTGGAGGAGACAAAAGGAAACACGATAACAGAAACAGCTTAGTGGCATTATGCTAAGTGCTCTGCAAGGAAAATGAAAAATACAGAAGGCTGGGATCCAACTTGTCTAGAGAAGAAGAGGCAGTTCTGGAGTAAATGACCCTCTAGCTGAGCCCTGAAGGTTCAGTAACAATATAGGCAGCAATTAGAAGAGGCAGAGGGAACCCGCGGAAGGGCGAAAGTCCTGAAGTGGCCAGGGAGTTAGAGGGACATAAGAGTCAGCCCATGCAGCTGCAGTTCAGCGATGGGTACAGATGGAAGTGTGGGTAGCGGCCGGGGCCTACAGGACTTGTAGGCCATATCAAGGTGTTTTGATTGTATTGCAATGGGGAGCCCATGAAGGGCTTTAGGGTGGCAAGTGACACACTACTTTTCTGTCTTGAAGTGACCTCTCTGGCTGCTGTGTGGCAGATGGATTACAGGAAGGCGAGAATGAATATGGGAGGCTATTGTAGTTTACAGGCATAGAAAACAGAAATAAGGAAGGCCTCAATAAGAGACAAATGGATGGATTTCAAACGTTATTTTGGGGAAAGACTTAACAGGTCTTGGTGACTTTCTTCTTAAGGACTGGAAAATGAACTGTTATATTCAACAACACACACACGCCTTCTCAAGAGTGTAATAAGCTGGACTGAAAGGTAAGAAGATGTCAGAAATTTATTGAATAAAAACAAAAGCTGCCCTTTCTTGTGTGCCTACTTGGTGCCAAACATATATCTAATAAAGTGATTTAGTGCTTTATATGTGCTGCTACGTCATTTAATCTTTAACAACTCTATGAAACGTGATAGTCATCTTATAGATGAATAAACTAAAGCTCAGAAAGGTAAAGTAACTTGATCAAGGTCACATAGTTAATCAGAACTCAAGTCTTTTTAACTTGAAAGGGGAAGCGTTTCAACGACCAGGTATCTCTGGAGGGCAGAAGACTGATTTGCAAAAAGGAAAATTCTTGTTACTGATATTACAAAAGGAAAGATTGCTTTTGAAAGATGTGTCAGGAAAGACTCACCAGTTGTGGAGGTCCAGAAAGTACACACTTTGGAAGCCCGGTTTCCTTTAAAGTAAGAATCATTCCTAAAAAGGATGCATAAAATCAGATCTCTCATCAATTTGACCTGTCGTCACTAACAGGAGGAGCACCCCGTACTAATCCAACTATTTATCTACATCTCCACCTTCCAGCTTTGGAAGTACAACCAGGGAAGATGTACAGAGCAGAAGTGATGCCAGCTAGAGGTGTAACAGACACCAAATATTCTTTAAATGCCTCTAGAATGGGCTGAGCTGTCACTAGGGTGAAGCAGCAAGGCACCCAGTGTGCAAAATGTAAGGAATCATGCAAGTGAAGGGCTGGCACCCTAAGTGCCTCACCCTAGTCTCAGCCCTGAGAAGGGAGACTGGTCTAACACTTCACTCCTTCCGGTCCATGCCACCAAGCCCACACAATTTGGCTGCAACACAATCCTGACCTTCCGGTTGATAGACATAAATGACAGGGTAATCTGGACAGTGGGTATGTGTGTGGCTGCCAATGTGCCAATGGCGTCTGCGGTAAACATATTAACTGTAATCACCACTGCTAGACTCTCCAGTTTACTGCCACAAATCTCTGTCCCCGCAACGCAAGAAACTAAGTGGATGGTAACACTTAAGAGGTGGTATCCATATTAAAATCTGTTCTCCTGAGTCACAGCTTTTAATGCTCTGTGCTGCTGCTGACTGGGCTGGTATAAAAAGAATTCCAGGCCAGGTGCGGTG
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CAGGAGGAGCAAGCCAGGCAATGGGAGTGCTGATCAGCTCATCACAGCACTGGCCTAGGAGCACTTGTGCCATTGCTCCGGCACATTCCTCTCCTCCCTGCTGCCTTCTGCCTTCAGTCAGTGTAAGCCTCATCTCCTCGCCAGGTTCTGGACTTCTCTGGCCTTTGCTGGGTGCTCTGGTCTGTCACCCATCAGCACTACTTAGTAAGCATCACATTAGTTAGTACTAACAAGGAAATACCCCTACTGCTTGGTACTCTCTTCACATGTAAGTAAAACCAGACATGAATGTCTTTAGCCAAGTTCAAGGACAAGACTAACTCTTTTCCTAAGCTAAGACCACATCATCTGGCCCTGATACTTCGGAATTTGCAGGAGCTTCTAACCCCCAACAACACTTCTTTTAGGTTGCTGTAATCATTATTTATTTAAAAAAATCTATCTGTGCAAACCTCTTCATGATCGTCTGATCAAAAGAGGGTATTACGCCTGTGGGAAAAAACCTCCAAGCAATGAATGTGCAAACTTGAATGCAATCTATTTACCAACAGTGCTTGATTATCTAATATTCCAAAGCATAATCACTATCATTAGGCATAAGTCAGACATCCGTAAGTTTATAAGCCAGGGCAGGAGCCATATCTTCATTCCTCAACTAAATTTTCTAATCATGCTCAGAACACAAAACAGGGTGCCCACAGCAAGTGTTCAGTTTCTATTTTCATCCATGTTTTCTTTACTCAGGACGTACACCCTCCTCCTGGGAAACCTGGCTTTCATACTCACTGTGTATGGGGATCTGGTAAACTGTCATGGTTTCATCCTCGTATTCTGGGGCAGAGTGGGGCCGCACAGCTACAAGAAAACCACACAACAGCAAAGTGATTGCATTAGTGAAGATGTGTGGGAAGAGTAACTTCAGGATCACCAACCACGAGCAACTGAATTGCCTCAGAATTATGGTGGGAATCTGACACGAAAACCAGACTTTCTAAGGAGATTACCATTTTTAGGAAATAAATAAAAGTGTATTTTGGTCAGCCATTTATATTTACTACAGCCAGATGAAAAGACATTATAATCTTTGGTGACTATCCGTTAAAAATTGAAAAACAAGAAACTAGTACTCAACTTTCAGAGACCCAAGTTAACAAACAGAATAGTGAAGCCAGGGAACCTATCATCGCAAACCAGAAGAGCTGATGTATATTTTGAAACAAAGTATTAGTGTTTCTATAAAAGAGGAGTATTAACAAGCCACAGATACACACCAGTGCCAGGACAAGAGCCCTACTAGCATCCTCAGTGAGGCCTCTTCCCATCAAGAGGCTGTAAGCCCCCCTGCGCAGCTGGAGCTGCGTTTCAATGTACAAAGTTGGCCACAAAACCTCTAGGGAACCCTTGTCACCCCCGCCCCCAACTCAAAGCAACTCAACGACGAGAAGCACCTCTGGAACTGAGGCAGGAGCCCTGCCGTCTGGATGGAGAATGCCACACAGCATGTACACAGGCAGGCATCAGCTGTTCAATCACTCCTGCCGACCTGGCCCCTATTTTTACAGCATGAGGTGGGAACACAGAAAATGTCACTATTTAGAAATCCCATCTCCAGCCACATGGTAGCTCATTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGAGCGTGATGGCATGCGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTGGGAGAATGGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGTAAGAAAGCAAGACTCTATCCAAAAAAAAAAAAAAAAAAAAAAATCTCGTGGTGATGAAGCATTTGATTTTGAGGTTTGATGTTGATGTTTTTAATGGATTCTAATTTGAGAGGTCAGGGCATATATAAGTTAGAAATAGCAGAGGATGAGTCACAGACAAAGACGTACCCAGTTCTATTCCTTTCAATGGACCAGAAAGTATTTTGATTGCTTCGAGGTATTTTTCCTAATGAAAAACAAAGAAATGAGCAGTTATGGTTGAACAAATGTAGAACACAGCAACTATTCAAGTATTTAAAAGGTTACCAATAGGTATCAACATAAAACAAAGCTTAGTAAATATTTTGAACATCATTTATTACAAATATTTACTGAGTATCCATTATATCAGATGCCAAGGATATAGCAGGAAAAAGAGATGGAGGCCTTGCTCTAATCAGGCCAGTGGAGGAGACAAAAGGAAACACGATAACAGAAACAGCTTAGTGGCATTATGCTAAGTGCTCTGCAAGGAAAATGAAAAATACAGAAGGCTGGGATCCAACTTGTCTAGAGAAGAAGAGGCAGTTCTGGAGTAAATGACCCTCTAGCTGAGCCCTGAAGGTTCAGTAACAATATAGGCAGCAATTAGAAGAGGCAGAGGGAACCCGCGGAAGGGCGAAAGTCCTGAAGTGGCCAGGGAGTTAGAGGGACATAAGAGTCAGCCCATGCAGCTGCAGTTCAGCGATGGGTACAGATGGAAGTGTGGGTAGCGGCCGGGGCCTACAGGACTTGTAGGCCATATCAAGGTGTTTTGATTGTATTGCAATGGGGAGCCCATGAAGGGCTTTAGGGTGGCAAGTGACACACTACTTTTCTGTCTTGAAGTGACCTCTCTGGCTGCTGTGTGGCAGATGGATTACAGGAAGGCGAGAATGAATATGGGAGGCTATTGTAGTTTACAGGCATAGAAAACAGAAATAAGGAAGGCCTCAATAAGAGACAAATGGATGGATTTCAAACGTTATTTTGGGGAAAGACTTAACAGGTCTTGGTGACTTTCTTCTTAAGGACTGGAAAATGAACTGTTATATTCAACAACACACACACGCCTTCTCAAGAGTGTAATAAGCTGGACTGAAAGGTAAGAAGATGTCAGAAATTTATTGAATAAAAACAAAAGCTGCCCTTTCTTGTGTGCCTACTTGGTGCCAAACATATATCTAATAAAGTGATTTAGTGCTTTATATGTGCTGCTACGTCATTTAATCTTTAACAACTCTATGAAACGTGATAGTCATCTTATAGATGAATAAACTAAAGCTCAGAAAGGTAAAGTAACTTGATCAAGGTCACATAGTTAATCAGAACTCAAGTCTTTTTAACTTGAAAGGGGAAGCGTTTCAACGACCAGGTATCTCTGGAGGGCAGAAGACTGATTTGCAAAAAGGAAAATTCTTGTTACTGATATTACAAAAGGAAAGATTGCTTTTGAAAGATGTGTCAGGAAAGACTCACCAGTTGTGGAGGTCCAGAAAGTACACACTTTGGAAGCCCGGTTTCCTTTAAAGTAAGAATCATTCCTAAAAAGGATGCATAAAATCAGATCTCTCATCAATTTGACCTGTCGTCACTAACAGGAGGAGCACCCCGTACTAATCCAACTATTTATCTACATCTCCACCTTCCAGCTTTGGAAGTACAACCAGGGAAGATGTACAGAGCAGAAGTGATGCCAGCTAGAGGTGTAACAGACACCAAATATTCTTTAAATGCCTCTAGAATGGGCTGAGCTGTCACTAGGGTGAAGCAGCAAGGCACCCAGTGTGCAAAATGTAAGGAATCATGCAAGTGAAGGGCTGGCACCCTAAGTGCCTCACCCTAGTCTCAGCCCTGAGAAGGGAGACTGGTCTAACACTTCACTCCTTCCGGTCCATGCCACCAAGCCCACACAATTTGGCTGCAACACAATCCTGACCTTCCGGTTGATAGACATAAATGACAGGGTAATCTGGACAGTGGGTATGTGTGTGGCTGCCAATGTGCCAATGGCGTCTGCGGTAAACATATTAACTGTAATCACCACTGCTAGACTCTCCAGTTTACTGCCACAAATCTCTGTCCCCGCAACGCAAGAAACTAAGTGGATGGTAACACTTAAGAGGTGGTATCCATATTAAAATCTGTTCTCCTGAGTCACAGCTTTTAATGCTCTGTGCTGCTGCTGACTGGGCTGGTATAAAAAGAATTCCAGGCCAGGTGCGGTG
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Task1_train_23817
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A genomic change on Chromosome 17 affects COX10, LOC130060303 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10| ATAC-STARR-seq lymphoblastoid active region 11742). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 3
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CTCACAGGTTTCAGGGACTCAGGTCTTGGTTCTGGCACTCAACAGCTAGGTAACTTTGATCAGATTACTTAAAACTCTCTGGGCCTTAATGTGCCAGACTTAGAGAGGATAACTTTTGCTCTAGGTTTAAACAACAAGTGTTTATAAAAGCACATGGAAAATTATAAAGAGTTCAAAAACTTTTAACGTAGTACTTAATGCTATTTTCCTCTTTATGGAGTGTCCTTTCCCTTTCTTTTATGCTGTAAAAATCTTTTTTTTTTTTTTTTTTTTTTACTTTCAGATCTAGGGTACATGGGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGTACCCATTAACTCGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCATCCCACGACAGGCCCCAGTGTGTGTGATGTTCCCCTTCCTGTGTCCAAGTGTTCTCATTGTGTATGCTGTAAAAATCTTACTGTTCCTTCCAGAGCACCAAGTTTAGATCTCTGAAGCTTTCCTTAAACCAACTGCACAGAAATGTTACCTCATCAGGGTTTCTGCAGCACTTTGTATACTACCCCTATCACACTGATAGTGACAATCGACAACCTCTTGTCCCCTCATTGGTCTAGTGTTAAGCTCCTACAGAATCGGGTGGGGGGGGTGTCTTAATCTCTTCAGCGTCCCCTGTGCCTAGCAATGTTAGTTGAGGTGAACCAAAACGGCTATCCTCTCATCATTGAAAACACAGAAAAAAATGGCCTTTTTAGAACCCAATTACCTATTTTTTCTCTTCTTTTTCAAAAGCGGAATCTTTTCTTCAATCTACTTTTTACTTGTGGAACCCCAATCTGAAAAGAAGATCGAGGGGTTGGGGGATGCTGAGATCTACCCTGGTAATCACAACACTTATGATAACACAGGTAATAATCTATTAGTGCCTGTACCTAGTAGGTGTCTGGCTACCCATGAAACACATTTATCTAATTCTCTCAACCTCTTATAAAAGATGTACCATTACTACTCCATTGTATTGCTAGATAACTGAGGTTCAGAGGACTTAGGTAATTTGCTCCAACAAGGTCAAAAGGCCAGAACTAGAATACGGATTTCACTCCAGACCACCAAATCTGAACCTCTACATGCAATCTGGAGATATCTGGATGATTCAGTTCCTTTAGTGTGGCTCAGAAACAAGTAACCCGGAGTTCCTCTGGGCTCCCATTTGATAGAGACTACGGTAAAGTGTAATTGATTAGACGTGGAGGTGGAAGCATCCCCACGAGAACCATTTCCTCATGATGCTCCTGTCACCGGGAAGTGTTCTAATTTTAACTTTATTTTTATTTTAAAATTTATTTTTAGAGACAGGGTCTCACTGTGTCGCCCAGACTGCAGTGCAGTGGCGCAATCACCGCAACCTCGACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCACGCGCCACCACACCTGGCTAATTTTACATTTTTTGTAGAGGCGGGGTCTCGCTTTGTTGCCCAGGCTGGTCTCGAGTTCCCAGGATCAAGCGATCCTCCCGCCTCGGTCTCCCTAAGCACTGGGATTGCAGGCGTGAGCCACAGCGCCCGGCCGCTGTAACTTTAAATTGCCCGGGAGGACTCTGCAGCCCAACCCTGCCCACCTCACCCGGTCACCGGAGGATGCCTGTCAACTTCTGGGAGCTGCAAGCGCGGGCCGGCCAGTCGTCCGCGCGCGGCTTTTTCTTCAGGACAGCGGAGGCACACCGTGCTTTGCGGTTCCCGGAAGTCCTTCAGGCCTCAGACCTGTCAGCCCGCCACACTCCAGCCAGTCCCTTCCGATCACCTCCAGACACCACGCTCTCCTTTCGGAGCCCGCCCGCCGGAAGTGGCGGCCCGGAACTACTCCCACAGGGGGGCGGGGAAGGAAGATGGCGGCGCCCAGCGTCCCGTGAGGAGAGAGGACACAGGGATCCCGGGGAGCGGCCCCAGACTCGTAAATTATGGCCGCATCTCCGCACACTCTCTCCTCACGCCTCCTGACAGGTACTGTACCCGCCTTGGGCACGACCTTGGGGGAAATTCTTCTCTTATTACCACGTGCGAGGCCGTGGTTCCGGCTGGCTGCAACCTTGGGGAGCCCTTGGCGAGGTTGGCCGGCCACCGGTGTGGTGGGGGAAATGACCTCTGGAGTAGCTTGGAGTGAAGAGGTCACGGAGCTAGGGTCCAGTCTTGCACTGTGGCTTTAGTGGTCCACACAGCCTCCTCCATCCGGCTTCTGCGGAAGAGCGGTGTCTTCCTGCTTCTTTAGGTTTTCAGATAGTGGAAGCTGGAGGAGAGGGCAGAGCAGAACCTTGGGGTTCCACAGTCCTCCTTATCAGAGCCTCGGCTTCTAGCCACTGGCTTGCAATGACAAGGAAGGTGCTTTGCTTCCACTCAGAAGCCTTGTTCCAATATAAAGGGTCATGATGACAACGTTGATGATAATGACAGTTGCAGACAGCGGAGTGTAGTCCCCATCAGACTTTTGTCTCTGTACCGCCAGAGTGGTCTTTAATATCCTTTCACTCGAAGAAACTAGTGACAAATGTATATTGGAGCTGGAATGTTCTTCCTTGACTCTTGGTAATGGCTCATCTCAAATGTCACCTTTTCAGAGAGGCCTTTATAGAGACCACCCTATATAAACTAGGGCCCCCTACTTCTTTCTTTTCACATCATTCCATTTATTTCTTTCATTATGGTTAGCACAGTCTATACTTGTTTATTTATATACTCGTTTATTATTTGTTTTTCCCAACTAGAATATAAACCTTGTGATGGCAGGGACAGTGTCCATCTCTGGTTTACCTCTGTGTTTCCAGTGCCCAGAACAGTACTTAGTGTACATTGTTTGCTCCCAATAGTTATTTGTGGATGGATGCAATTTGTCCCCATGGAGATCTTAAAGAGGACGTTAGATGATTAACTAATGGTTGTGTGAGGAATGTGATGCCGGTGGTGCATATTAGAGGCCAGATAAGAGAAGCCAGGGACTGCCTTTTGATCACATCCCAGAAACTTTTTTCACTTGTCACCTACCACACACAAGCTCTCTGCACCATCTGGTGATGTTGACACTGTGACTCCATGAAATTGCGTTCTTCGTTCTTTTTCATAATGTTATTTTATGGCTGTCTTCTGGTCTGTGTGATTCCAGGGCAATTCATTTGACTTTTCTGGAATTGAGTTTACTCATCTATAAAATGACGTAATTGAAGTAGGTGATCTCAAAGGTCCTGTTTGGTTTGTAAAGTGGAGAGGTAGAATAGATTGGCTAGGGTCTGGTAATTGTTGAAGCTTGGGGATAAGTAATGGGGGCTCATGGTACTCTTCTGCTTTTACACATGGCTGTGATTTTCCATAATGAAAAGTTGTTGTTTGTTGTTTTTTAAAGTCCTGTGATTCTTTTTTGAATCACTTCTTTGTTACATTCTACCATACCTGACTGTGAATGTTCTTTGATCCTGATCCTGGGCACTCATTCTCAGAGAACTCATCCTTTTATGTTGCTTCAAATATCTTCTCTGTATGGAGGTTTTTCCAGCATGCATCCTTCAGATTAGCTGTTTTTCTGCCTTTCCATTCTATATTGTCAGCTATAGGACAATTCTGCTTGACTACTGTGAATTGCCCAGTTCCAGTAGGTGGGCTGCATGTGGCCCATATGGTTTGTTGCTGCATCAGTCTTTGCAGTGGTGGTATGGAAGGAATTAATAGACAGCTTACTCCCTGAAGCTGTGAACATAATTGCCAAAAACTCTGCTAGTAAGTGGTCTGTATAACTCCCTGTGATCCATTTGGAAGATCTACTAAGAGAGCTTGATGGGGAAGCAGCATGGTGGGACAAGGTGGCAGAGAAGGTAAACTGGGACAGTGTTAGTGATCGAGTAGTATCATGCCTGATTTTGCTTCTAAAAGTTCTAAGTATTTTACAGCCATTTAAAAACTGTCATCACTGGCCGGGCGCAGTAGCTTACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGC
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CTCACAGGTTTCAGGGACTCAGGTCTTGGTTCTGGCACTCAACAGCTAGGTAACTTTGATCAGATTACTTAAAACTCTCTGGGCCTTAATGTGCCAGACTTAGAGAGGATAACTTTTGCTCTAGGTTTAAACAACAAGTGTTTATAAAAGCACATGGAAAATTATAAAGAGTTCAAAAACTTTTAACGTAGTACTTAATGCTATTTTCCTCTTTATGGAGTGTCCTTTCCCTTTCTTTTATGCTGTAAAAATCTTTTTTTTTTTTTTTTTTTTTTACTTTCAGATCTAGGGTACATGGGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGTACCCATTAACTCGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCATCCCACGACAGGCCCCAGTGTGTGTGATGTTCCCCTTCCTGTGTCCAAGTGTTCTCATTGTGTATGCTGTAAAAATCTTACTGTTCCTTCCAGAGCACCAAGTTTAGATCTCTGAAGCTTTCCTTAAACCAACTGCACAGAAATGTTACCTCATCAGGGTTTCTGCAGCACTTTGTATACTACCCCTATCACACTGATAGTGACAATCGACAACCTCTTGTCCCCTCATTGGTCTAGTGTTAAGCTCCTACAGAATCGGGTGGGGGGGGTGTCTTAATCTCTTCAGCGTCCCCTGTGCCTAGCAATGTTAGTTGAGGTGAACCAAAACGGCTATCCTCTCATCATTGAAAACACAGAAAAAAATGGCCTTTTTAGAACCCAATTACCTATTTTTTCTCTTCTTTTTCAAAAGCGGAATCTTTTCTTCAATCTACTTTTTACTTGTGGAACCCCAATCTGAAAAGAAGATCGAGGGGTTGGGGGATGCTGAGATCTACCCTGGTAATCACAACACTTATGATAACACAGGTAATAATCTATTAGTGCCTGTACCTAGTAGGTGTCTGGCTACCCATGAAACACATTTATCTAATTCTCTCAACCTCTTATAAAAGATGTACCATTACTACTCCATTGTATTGCTAGATAACTGAGGTTCAGAGGACTTAGGTAATTTGCTCCAACAAGGTCAAAAGGCCAGAACTAGAATACGGATTTCACTCCAGACCACCAAATCTGAACCTCTACATGCAATCTGGAGATATCTGGATGATTCAGTTCCTTTAGTGTGGCTCAGAAACAAGTAACCCGGAGTTCCTCTGGGCTCCCATTTGATAGAGACTACGGTAAAGTGTAATTGATTAGACGTGGAGGTGGAAGCATCCCCACGAGAACCATTTCCTCATGATGCTCCTGTCACCGGGAAGTGTTCTAATTTTAACTTTATTTTTATTTTAAAATTTATTTTTAGAGACAGGGTCTCACTGTGTCGCCCAGACTGCAGTGCAGTGGCGCAATCACCGCAACCTCGACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCACGCGCCACCACACCTGGCTAATTTTACATTTTTTGTAGAGGCGGGGTCTCGCTTTGTTGCCCAGGCTGGTCTCGAGTTCCCAGGATCAAGCGATCCTCCCGCCTCGGTCTCCCTAAGCACTGGGATTGCAGGCGTGAGCCACAGCGCCCGGCCGCTGTAACTTTAAATTGCCCGGGAGGACTCTGCAGCCCAACCCTGCCCACCTCACCCGGTCACCGGAGGATGCCTGTCAACTTCTGGGAGCTGCAAGCGCGGGCCGGCCAGTCGTCCGCGCGCGGCTTTTTCTTCAGGACAGCGGAGGCACACCGTGCTTTGCGGTTCCCGGAAGTCCTTCAGGCCTCAGACCTGTCAGCCCGCCACACTCCAGCCAGTCCCTTCCGATCACCTCCAGACACCACGCTCTCCTTTCGGAGCCCGCCCGCCGGAAGTGGCGGCCCGGAACTACTCCCACAGGGGGGCGGGGAAGGAAGATGGCGGCGCCCAGCGTCCCGTGAGGAGAGAGGACACAGGGATCCCGGGGAGCGGCCCCAGACTCGTAAATTACGGCCGCATCTCCGCACACTCTCTCCTCACGCCTCCTGACAGGTACTGTACCCGCCTTGGGCACGACCTTGGGGGAAATTCTTCTCTTATTACCACGTGCGAGGCCGTGGTTCCGGCTGGCTGCAACCTTGGGGAGCCCTTGGCGAGGTTGGCCGGCCACCGGTGTGGTGGGGGAAATGACCTCTGGAGTAGCTTGGAGTGAAGAGGTCACGGAGCTAGGGTCCAGTCTTGCACTGTGGCTTTAGTGGTCCACACAGCCTCCTCCATCCGGCTTCTGCGGAAGAGCGGTGTCTTCCTGCTTCTTTAGGTTTTCAGATAGTGGAAGCTGGAGGAGAGGGCAGAGCAGAACCTTGGGGTTCCACAGTCCTCCTTATCAGAGCCTCGGCTTCTAGCCACTGGCTTGCAATGACAAGGAAGGTGCTTTGCTTCCACTCAGAAGCCTTGTTCCAATATAAAGGGTCATGATGACAACGTTGATGATAATGACAGTTGCAGACAGCGGAGTGTAGTCCCCATCAGACTTTTGTCTCTGTACCGCCAGAGTGGTCTTTAATATCCTTTCACTCGAAGAAACTAGTGACAAATGTATATTGGAGCTGGAATGTTCTTCCTTGACTCTTGGTAATGGCTCATCTCAAATGTCACCTTTTCAGAGAGGCCTTTATAGAGACCACCCTATATAAACTAGGGCCCCCTACTTCTTTCTTTTCACATCATTCCATTTATTTCTTTCATTATGGTTAGCACAGTCTATACTTGTTTATTTATATACTCGTTTATTATTTGTTTTTCCCAACTAGAATATAAACCTTGTGATGGCAGGGACAGTGTCCATCTCTGGTTTACCTCTGTGTTTCCAGTGCCCAGAACAGTACTTAGTGTACATTGTTTGCTCCCAATAGTTATTTGTGGATGGATGCAATTTGTCCCCATGGAGATCTTAAAGAGGACGTTAGATGATTAACTAATGGTTGTGTGAGGAATGTGATGCCGGTGGTGCATATTAGAGGCCAGATAAGAGAAGCCAGGGACTGCCTTTTGATCACATCCCAGAAACTTTTTTCACTTGTCACCTACCACACACAAGCTCTCTGCACCATCTGGTGATGTTGACACTGTGACTCCATGAAATTGCGTTCTTCGTTCTTTTTCATAATGTTATTTTATGGCTGTCTTCTGGTCTGTGTGATTCCAGGGCAATTCATTTGACTTTTCTGGAATTGAGTTTACTCATCTATAAAATGACGTAATTGAAGTAGGTGATCTCAAAGGTCCTGTTTGGTTTGTAAAGTGGAGAGGTAGAATAGATTGGCTAGGGTCTGGTAATTGTTGAAGCTTGGGGATAAGTAATGGGGGCTCATGGTACTCTTCTGCTTTTACACATGGCTGTGATTTTCCATAATGAAAAGTTGTTGTTTGTTGTTTTTTAAAGTCCTGTGATTCTTTTTTGAATCACTTCTTTGTTACATTCTACCATACCTGACTGTGAATGTTCTTTGATCCTGATCCTGGGCACTCATTCTCAGAGAACTCATCCTTTTATGTTGCTTCAAATATCTTCTCTGTATGGAGGTTTTTCCAGCATGCATCCTTCAGATTAGCTGTTTTTCTGCCTTTCCATTCTATATTGTCAGCTATAGGACAATTCTGCTTGACTACTGTGAATTGCCCAGTTCCAGTAGGTGGGCTGCATGTGGCCCATATGGTTTGTTGCTGCATCAGTCTTTGCAGTGGTGGTATGGAAGGAATTAATAGACAGCTTACTCCCTGAAGCTGTGAACATAATTGCCAAAAACTCTGCTAGTAAGTGGTCTGTATAACTCCCTGTGATCCATTTGGAAGATCTACTAAGAGAGCTTGATGGGGAAGCAGCATGGTGGGACAAGGTGGCAGAGAAGGTAAACTGGGACAGTGTTAGTGATCGAGTAGTATCATGCCTGATTTTGCTTCTAAAAGTTCTAAGTATTTTACAGCCATTTAAAAACTGTCATCACTGGCCGGGCGCAGTAGCTTACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGC
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Task1_train_23818
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A genetic alteration is present in COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 3
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ACTTCCACTTATAGATTGCCTTCTTGCATTAGACTTTCAGTGACTCTGCACTGCCAACCAACCAAACTACAAACTCCTCAGCTTGCTATTCTGCAGTCTGACATTTGCCACCTTTCCTCCTGTTTTTCCAGTAAATACTGCTCTATGCCTAGCTCAGTGATAGCCCCCCCAAATACAGCAGTGAACTACACAGACAGGGGTCCTACCTTCATGGAGCTTATATTCCAGTGAGGAGTCAGAGTGTAGTAAGTGTCATGAAGGAAATAAAAGGAGGATGTGAGCGAGGGAGTAACTGGGGAGACTTACGTTAGATGAGGTCATCAGGAAGGTTCCCCTTAACAAGTAGTATTTCCAATGGGATCTGAAGGATGAGAAGGAGCCAGCTGTGGAAAGAGGCAAATGAAACAAAAGTACAAGAACCCAGGGACAAGAAAGAGCTTGGAATGCTCAAAGAATAGAAGAAGTCTCATGAATGGATAATAGTGATTGAGCTAAAGAGAAGTGTGAGATGCACTTACTGGCAGAGAAAGAGTTTACATTTTATATCAGGTATAGCATCAAAGAATTTTCAATGTTCAAAGCAGCGATGTGATTTGATCTGTTTTCATTTTAAAAACATCACTCTGAAGAGAAGCAAGATGGAAGCAAGGAGACCAGTTAGGGGGTAAAGCTCTTATGGCAATTGCTTGGACTATGTTAGGGTTTCTCAAGCTCAGCACTACTGGCATTTTAGGCTAGAAAATTATTTGTTGTTGGGGGGTGTCCTATGCACCATAAGATGTTAAGAAGCATCCTCAGCCTTTATCCACTAGAAGACAAGTAGCACCCTCCCCTGCAATCAAAAGTGTTTCCAGACAATGCTAAATGTCCCCTGGGGGGCAAAACTACCCCTGGTTAAGAACTGCTGGACTAAATGCTGGCAGTGTGATGGGTTTGAAACATAGTGTAGAGATAGAACAGACACTACTTTGCAATGAACGGGATATAGCGAGTGACAAAGGAGATAATCAAATATGCTTCCTAGGTTTTTGGTTGAAGAATCTAGGTAGATGGTATCATGCATACTTTGGATTCTTGACATAGGTCTTCCCTTCCCTTGTGCCTGTTCTTGGAATTATCCATGTACCTGTAATGTTGCTCACCCTACCATTCTCTTCCTTTCTCTTCATCCTCTCTAGAAAATCCAACTTAAATGTCATCTTCTTGAAGCTTTCCCAGATTTGCCCACCAATGGTGATCCTTTTTCCAGCGGATTTCTACAGCTGCATATCAGCACCACTCTTGGACACTTTCTGGCCCTGTCAGCTTCTGTAAACCCCAGGAAAGAAGCGCCAGGGCCTACCGAAAAGGAGCAGCCTTGGTGGAAGCTTGAAATGTCTGGCTTTGATTCTGTACCTCGCCTCTTCCCTTGGTTCCTGCTGGTGGCTTGTAGGATTATCATCTCCCACTACGCATTCTCTGACCGCTGGGACCATCATCTCTTATAGGCAAGACCACTCCTAGGCTTGTCTGCAGTTTGTCACAGACTTGGGATCCTTGTTATTTGCTGTCTTGTGTTACAGTTATTAAGGCATATCTGCCGTCTCCCTTTCAAATTAGTCAAGAGCAAGAATAAGACCATATACATCTTTATCCCTGGCAGTGCGTACTGATTACAAATTTGGTATTTAGTAAATGTCTGTTGAATGAATAAGTGAATGATTGAATCTGGAAGACTGACCTTATTTTTTTTCTCTTGAGTATGGAATTAAAAGAAAATTAACATTTTTATATAATTAGTACATGTAGTTTTTATAATCAGAAAAATGTGGATCTTTTTTAAGCCAAAGATCAGCCTGTACTTTGTGTTATTAATATAATCAATTAGTTTATATGAAGGATGGCTTGTTTTTTGTCGTTCTGGCCTTTACAGTTGGGACTCCTGTTGGTAACAGTGTGTCTGCTCTGTTTCTGTATCGCAGCTCTGGTTGTAAGTACCACTGCAGCTGGATTTGCATTGGCTCCGGGCCCTTTTGACTGGCCCTGTTTCCTGCTTACTTCTGTTGGGACAGGCCTTGCATCCTGTGCTGCCAACTCCATCAATCAGGTCAGTTTCTCACTTTCATCTAAATTATGTTATTGTCACTTTTTCCTAGATGGCTGTATTGTCATATTTTTAAATACCTTCCAAACTCATATATTGATGGAGAAGCATTTGTAACACTATATATCCTATAGGAGCCTGTGGGTTTCATAACCAATTTGTCTTTTCTTTTGAGGTGAATGGTTTTCAGATATGTTCAGGTGAGAGAGCAGTAGATTAGATGCTTCAAATGACTAGGATTCCTTGGGTTAAAACATGTTTTTGAGCTGTCATAACTTTCTACTCTTAGTGGTATCTTTGTTTATCCATTTCAGATACATTTCCCTGAGCTTGTCATTGTGCACTACTCTTTCTTGGTTTGATTTCTTTGCATTTTAAACCACTGCTATAAAGAACAGAATATATTTTAACTATGCATATTCAGCTATTTTTAAAAAATCATAATTTAGTACTCAGTTAACTTGGTATATGGAATACGGTTATACCCCAAAATTAGCATATTATTTTTAATACATCCCCCCCTATTATTTTAAACATCAAAATAATTCTCCCAAATAATTTTTTTTCCCATCTAGTCACTGTGGTCTGCCTTAACGTTGTGGCTTTTTCATAAGATATTATAGTGAAAAATTTTGGCCAAAACTTAAGGAAAATCGTTTTCATTACCAGAACACCCAAGAGGAGTTGGCTCAGTTTTAAAACAGGAATTCAAGTTACCAGCAGGAAAACAGCTTGGCTGAGTGGACATATAAGTTGCTAGTGTGCAAAATACGTGAATTTAATGTGATAATGCCTATAGTCATTATGGTTCTACAATATATTGTCAGCTATTTGGAGAAGGATCAATCTATTTCAAATAAGTTTTTTTGTTGTTGTTGTTATTTTGGATGTCAAAACAATCTTATAGTGAGGTTCAAATAGTGCTACCACTTTACCAAAAAGATCATCCCCTTCTATAAAGCAGGACACCATCTCTTCCAAGTAGTTTCTTCCTTTTGCTACCTTCCCATGTTTTCTGGTAAAGAGAATAAACATGATTCCACCATGAACATATTTTTAATGAAAATGCGAATGAAAAGCAATATAAGCCAAATTGATTTATTTGTCCATTTGGGTCTATTTTTTATTTTTAAAAGTTACTACCTCTATTTGGTTATACATCTGGGACCCGAGGTTAAGCCAGGAGCACATTCTAGTTTTCAGCCTCCTTTTCGTAAATTGAAAAGCCACATTTATCCTTGAGATACTAATTATCTTAAGGATTTAAATTATGTTGATTCAAAGAAAATGTTTAAAATAAAATATGGACATTCAGAGAAAAAATAACTAAAAAGCATCAAATGGTTCAGAAGCTCCTAAATATTATAAAAAATAAGAGTTGTTTGAGTTGGAGCTGCTCCTCCTCCCCTCTCATCCCACCCCTTTTCTTTTCAAAAATAGGTAGCTCAAGAATTTATCATGAAAAAAACCTCTCAGTTGGATCAAGAAAGTATTTGGAGGAATAAAAATTGAATGATTTACATTTAGACAGAAATTGAACATAAGCCAAGGTTTTGGAAATTTTAAAAGGATGTGTTTAGGTGGCTGCTTGATTTTTAGTCTGTAGAAGTATTTTTGCTATAGGGAGCGAGTTGGATTCTGTAAATTTTAAAAATACGGGGGAAAGCCACAGAATGCATGTTGGGATTCTTTCTGGTCCTGAAAAGGTGCAGTGTCTGCCTCTTTCCTCCTTAGGCTGGTTTTCCAGCCCTGCTCCGCATCCCACTTACACAGCACTCCTGATCTTCCGCTGGAACTCCGTGTCATGTTCCTCCATGTGTCACTCATCCCACACAGCCCTCTGCAGTGTCCTGAGTGACGTGAGTTCCTCATCAGTGCTTGTGGTACAAGTGAATTTCTCCATCTTTTTGTACCCCTCATATTGCTTCCTTCCACTTGTCTCAGGCTGTGATTTCGTTTGGAAGCATCACAACACTTTAAAAATCTCAACGATTCCCAGTAGAGTAGAATCCT
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ACTTCCACTTATAGATTGCCTTCTTGCATTAGACTTTCAGTGACTCTGCACTGCCAACCAACCAAACTACAAACTCCTCAGCTTGCTATTCTGCAGTCTGACATTTGCCACCTTTCCTCCTGTTTTTCCAGTAAATACTGCTCTATGCCTAGCTCAGTGATAGCCCCCCCAAATACAGCAGTGAACTACACAGACAGGGGTCCTACCTTCATGGAGCTTATATTCCAGTGAGGAGTCAGAGTGTAGTAAGTGTCATGAAGGAAATAAAAGGAGGATGTGAGCGAGGGAGTAACTGGGGAGACTTACGTTAGATGAGGTCATCAGGAAGGTTCCCCTTAACAAGTAGTATTTCCAATGGGATCTGAAGGATGAGAAGGAGCCAGCTGTGGAAAGAGGCAAATGAAACAAAAGTACAAGAACCCAGGGACAAGAAAGAGCTTGGAATGCTCAAAGAATAGAAGAAGTCTCATGAATGGATAATAGTGATTGAGCTAAAGAGAAGTGTGAGATGCACTTACTGGCAGAGAAAGAGTTTACATTTTATATCAGGTATAGCATCAAAGAATTTTCAATGTTCAAAGCAGCGATGTGATTTGATCTGTTTTCATTTTAAAAACATCACTCTGAAGAGAAGCAAGATGGAAGCAAGGAGACCAGTTAGGGGGTAAAGCTCTTATGGCAATTGCTTGGACTATGTTAGGGTTTCTCAAGCTCAGCACTACTGGCATTTTAGGCTAGAAAATTATTTGTTGTTGGGGGGTGTCCTATGCACCATAAGATGTTAAGAAGCATCCTCAGCCTTTATCCACTAGAAGACAAGTAGCACCCTCCCCTGCAATCAAAAGTGTTTCCAGACAATGCTAAATGTCCCCTGGGGGGCAAAACTACCCCTGGTTAAGAACTGCTGGACTAAATGCTGGCAGTGTGATGGGTTTGAAACATAGTGTAGAGATAGAACAGACACTACTTTGCAATGAACGGGATATAGCGAGTGACAAAGGAGATAATCAAATATGCTTCCTAGGTTTTTGGTTGAAGAATCTAGGTAGATGGTATCATGCATACTTTGGATTCTTGACATAGGTCTTCCCTTCCCTTGTGCCTGTTCTTGGAATTATCCATGTACCTGTAATGTTGCTCACCCTACCATTCTCTTCCTTTCTCTTCATCCTCTCTAGAAAATCCAACTTAAATGTCATCTTCTTGAAGCTTTCCCAGATTTGCCCACCAATGGTGATCCTTTTTCCAGCGGATTTCTACAGCTGCATATCAGCACCACTCTTGGACACTTTCTGGCCCTGTCAGCTTCTGTAAACCCCAGGAAAGAAGCGCCAGGGCCTACCGAAAAGGAGCAGCCTTGGTGGAAGCTTGAAATGTCTGGCTTTGATTCTGTACCTCGCCTCTTCCCTTGGTTCCTGCTGGTGGCTTGTAGGATTATCATCTCCCACTACGCATTCTCTGACCGCTGGGACCATCATCTCTTATAGGCAAGACCACTCCTAGGCTTGTCTGCAGTTTGTCACAGACTTGGGATCCTTGTTATTTGCTGTCTTGTGTTACAGTTATTAAGGCATATCTGCCGTCTCCCTTTCAAATTAGTCAAGAGCAAGAATAAGACCATATACATCTTTATCCCTGGCAGTGCGTACTGATTACAAATTTGGTATTTAGTAAATGTCTGTTGAATGAATAAGTGAATGATTGAATCTGGAAGACTGACCTTATTTTTTTTCTCTTGAGTATGGAATTAAAAGAAAATTAACATTTTTATATAATTAGTACATGTAGTTTTTATAATCAGAAAAATGTGGATCTTTTTTAAGCCAAAGATCAGCCTGTACTTTGTGTTATTAATATAATCAATTAGTTTATATGAAGGATGGCTTGTTTTTTGTCGTTCTGGCCTTTACAGTTGGGACTCCTGTTGGTAACAGTGTGTCTGCTCTGTTTCTGTATCGCAGCTCTGGTTGTAAGTACCACTGCAGCTGGATTTGCATTGGCTCCGGGCCCTTTTGACTGGCCCTGTTTCCTGCTTACTTCTGTTGGGAAAGGCCTTGCATCCTGTGCTGCCAACTCCATCAATCAGGTCAGTTTCTCACTTTCATCTAAATTATGTTATTGTCACTTTTTCCTAGATGGCTGTATTGTCATATTTTTAAATACCTTCCAAACTCATATATTGATGGAGAAGCATTTGTAACACTATATATCCTATAGGAGCCTGTGGGTTTCATAACCAATTTGTCTTTTCTTTTGAGGTGAATGGTTTTCAGATATGTTCAGGTGAGAGAGCAGTAGATTAGATGCTTCAAATGACTAGGATTCCTTGGGTTAAAACATGTTTTTGAGCTGTCATAACTTTCTACTCTTAGTGGTATCTTTGTTTATCCATTTCAGATACATTTCCCTGAGCTTGTCATTGTGCACTACTCTTTCTTGGTTTGATTTCTTTGCATTTTAAACCACTGCTATAAAGAACAGAATATATTTTAACTATGCATATTCAGCTATTTTTAAAAAATCATAATTTAGTACTCAGTTAACTTGGTATATGGAATACGGTTATACCCCAAAATTAGCATATTATTTTTAATACATCCCCCCCTATTATTTTAAACATCAAAATAATTCTCCCAAATAATTTTTTTTCCCATCTAGTCACTGTGGTCTGCCTTAACGTTGTGGCTTTTTCATAAGATATTATAGTGAAAAATTTTGGCCAAAACTTAAGGAAAATCGTTTTCATTACCAGAACACCCAAGAGGAGTTGGCTCAGTTTTAAAACAGGAATTCAAGTTACCAGCAGGAAAACAGCTTGGCTGAGTGGACATATAAGTTGCTAGTGTGCAAAATACGTGAATTTAATGTGATAATGCCTATAGTCATTATGGTTCTACAATATATTGTCAGCTATTTGGAGAAGGATCAATCTATTTCAAATAAGTTTTTTTGTTGTTGTTGTTATTTTGGATGTCAAAACAATCTTATAGTGAGGTTCAAATAGTGCTACCACTTTACCAAAAAGATCATCCCCTTCTATAAAGCAGGACACCATCTCTTCCAAGTAGTTTCTTCCTTTTGCTACCTTCCCATGTTTTCTGGTAAAGAGAATAAACATGATTCCACCATGAACATATTTTTAATGAAAATGCGAATGAAAAGCAATATAAGCCAAATTGATTTATTTGTCCATTTGGGTCTATTTTTTATTTTTAAAAGTTACTACCTCTATTTGGTTATACATCTGGGACCCGAGGTTAAGCCAGGAGCACATTCTAGTTTTCAGCCTCCTTTTCGTAAATTGAAAAGCCACATTTATCCTTGAGATACTAATTATCTTAAGGATTTAAATTATGTTGATTCAAAGAAAATGTTTAAAATAAAATATGGACATTCAGAGAAAAAATAACTAAAAAGCATCAAATGGTTCAGAAGCTCCTAAATATTATAAAAAATAAGAGTTGTTTGAGTTGGAGCTGCTCCTCCTCCCCTCTCATCCCACCCCTTTTCTTTTCAAAAATAGGTAGCTCAAGAATTTATCATGAAAAAAACCTCTCAGTTGGATCAAGAAAGTATTTGGAGGAATAAAAATTGAATGATTTACATTTAGACAGAAATTGAACATAAGCCAAGGTTTTGGAAATTTTAAAAGGATGTGTTTAGGTGGCTGCTTGATTTTTAGTCTGTAGAAGTATTTTTGCTATAGGGAGCGAGTTGGATTCTGTAAATTTTAAAAATACGGGGGAAAGCCACAGAATGCATGTTGGGATTCTTTCTGGTCCTGAAAAGGTGCAGTGTCTGCCTCTTTCCTCCTTAGGCTGGTTTTCCAGCCCTGCTCCGCATCCCACTTACACAGCACTCCTGATCTTCCGCTGGAACTCCGTGTCATGTTCCTCCATGTGTCACTCATCCCACACAGCCCTCTGCAGTGTCCTGAGTGACGTGAGTTCCTCATCAGTGCTTGTGGTACAAGTGAATTTCTCCATCTTTTTGTACCCCTCATATTGCTTCCTTCCACTTGTCTCAGGCTGTGATTTCGTTTGGAAGCATCACAACACTTTAAAAATCTCAACGATTCCCAGTAGAGTAGAATCCT
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Task1_train_23819
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With a mutation on Chromosome 17 in gene COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 3
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GCATTAGACTTTCAGTGACTCTGCACTGCCAACCAACCAAACTACAAACTCCTCAGCTTGCTATTCTGCAGTCTGACATTTGCCACCTTTCCTCCTGTTTTTCCAGTAAATACTGCTCTATGCCTAGCTCAGTGATAGCCCCCCCAAATACAGCAGTGAACTACACAGACAGGGGTCCTACCTTCATGGAGCTTATATTCCAGTGAGGAGTCAGAGTGTAGTAAGTGTCATGAAGGAAATAAAAGGAGGATGTGAGCGAGGGAGTAACTGGGGAGACTTACGTTAGATGAGGTCATCAGGAAGGTTCCCCTTAACAAGTAGTATTTCCAATGGGATCTGAAGGATGAGAAGGAGCCAGCTGTGGAAAGAGGCAAATGAAACAAAAGTACAAGAACCCAGGGACAAGAAAGAGCTTGGAATGCTCAAAGAATAGAAGAAGTCTCATGAATGGATAATAGTGATTGAGCTAAAGAGAAGTGTGAGATGCACTTACTGGCAGAGAAAGAGTTTACATTTTATATCAGGTATAGCATCAAAGAATTTTCAATGTTCAAAGCAGCGATGTGATTTGATCTGTTTTCATTTTAAAAACATCACTCTGAAGAGAAGCAAGATGGAAGCAAGGAGACCAGTTAGGGGGTAAAGCTCTTATGGCAATTGCTTGGACTATGTTAGGGTTTCTCAAGCTCAGCACTACTGGCATTTTAGGCTAGAAAATTATTTGTTGTTGGGGGGTGTCCTATGCACCATAAGATGTTAAGAAGCATCCTCAGCCTTTATCCACTAGAAGACAAGTAGCACCCTCCCCTGCAATCAAAAGTGTTTCCAGACAATGCTAAATGTCCCCTGGGGGGCAAAACTACCCCTGGTTAAGAACTGCTGGACTAAATGCTGGCAGTGTGATGGGTTTGAAACATAGTGTAGAGATAGAACAGACACTACTTTGCAATGAACGGGATATAGCGAGTGACAAAGGAGATAATCAAATATGCTTCCTAGGTTTTTGGTTGAAGAATCTAGGTAGATGGTATCATGCATACTTTGGATTCTTGACATAGGTCTTCCCTTCCCTTGTGCCTGTTCTTGGAATTATCCATGTACCTGTAATGTTGCTCACCCTACCATTCTCTTCCTTTCTCTTCATCCTCTCTAGAAAATCCAACTTAAATGTCATCTTCTTGAAGCTTTCCCAGATTTGCCCACCAATGGTGATCCTTTTTCCAGCGGATTTCTACAGCTGCATATCAGCACCACTCTTGGACACTTTCTGGCCCTGTCAGCTTCTGTAAACCCCAGGAAAGAAGCGCCAGGGCCTACCGAAAAGGAGCAGCCTTGGTGGAAGCTTGAAATGTCTGGCTTTGATTCTGTACCTCGCCTCTTCCCTTGGTTCCTGCTGGTGGCTTGTAGGATTATCATCTCCCACTACGCATTCTCTGACCGCTGGGACCATCATCTCTTATAGGCAAGACCACTCCTAGGCTTGTCTGCAGTTTGTCACAGACTTGGGATCCTTGTTATTTGCTGTCTTGTGTTACAGTTATTAAGGCATATCTGCCGTCTCCCTTTCAAATTAGTCAAGAGCAAGAATAAGACCATATACATCTTTATCCCTGGCAGTGCGTACTGATTACAAATTTGGTATTTAGTAAATGTCTGTTGAATGAATAAGTGAATGATTGAATCTGGAAGACTGACCTTATTTTTTTTCTCTTGAGTATGGAATTAAAAGAAAATTAACATTTTTATATAATTAGTACATGTAGTTTTTATAATCAGAAAAATGTGGATCTTTTTTAAGCCAAAGATCAGCCTGTACTTTGTGTTATTAATATAATCAATTAGTTTATATGAAGGATGGCTTGTTTTTTGTCGTTCTGGCCTTTACAGTTGGGACTCCTGTTGGTAACAGTGTGTCTGCTCTGTTTCTGTATCGCAGCTCTGGTTGTAAGTACCACTGCAGCTGGATTTGCATTGGCTCCGGGCCCTTTTGACTGGCCCTGTTTCCTGCTTACTTCTGTTGGGACAGGCCTTGCATCCTGTGCTGCCAACTCCATCAATCAGGTCAGTTTCTCACTTTCATCTAAATTATGTTATTGTCACTTTTTCCTAGATGGCTGTATTGTCATATTTTTAAATACCTTCCAAACTCATATATTGATGGAGAAGCATTTGTAACACTATATATCCTATAGGAGCCTGTGGGTTTCATAACCAATTTGTCTTTTCTTTTGAGGTGAATGGTTTTCAGATATGTTCAGGTGAGAGAGCAGTAGATTAGATGCTTCAAATGACTAGGATTCCTTGGGTTAAAACATGTTTTTGAGCTGTCATAACTTTCTACTCTTAGTGGTATCTTTGTTTATCCATTTCAGATACATTTCCCTGAGCTTGTCATTGTGCACTACTCTTTCTTGGTTTGATTTCTTTGCATTTTAAACCACTGCTATAAAGAACAGAATATATTTTAACTATGCATATTCAGCTATTTTTAAAAAATCATAATTTAGTACTCAGTTAACTTGGTATATGGAATACGGTTATACCCCAAAATTAGCATATTATTTTTAATACATCCCCCCCTATTATTTTAAACATCAAAATAATTCTCCCAAATAATTTTTTTTCCCATCTAGTCACTGTGGTCTGCCTTAACGTTGTGGCTTTTTCATAAGATATTATAGTGAAAAATTTTGGCCAAAACTTAAGGAAAATCGTTTTCATTACCAGAACACCCAAGAGGAGTTGGCTCAGTTTTAAAACAGGAATTCAAGTTACCAGCAGGAAAACAGCTTGGCTGAGTGGACATATAAGTTGCTAGTGTGCAAAATACGTGAATTTAATGTGATAATGCCTATAGTCATTATGGTTCTACAATATATTGTCAGCTATTTGGAGAAGGATCAATCTATTTCAAATAAGTTTTTTTGTTGTTGTTGTTATTTTGGATGTCAAAACAATCTTATAGTGAGGTTCAAATAGTGCTACCACTTTACCAAAAAGATCATCCCCTTCTATAAAGCAGGACACCATCTCTTCCAAGTAGTTTCTTCCTTTTGCTACCTTCCCATGTTTTCTGGTAAAGAGAATAAACATGATTCCACCATGAACATATTTTTAATGAAAATGCGAATGAAAAGCAATATAAGCCAAATTGATTTATTTGTCCATTTGGGTCTATTTTTTATTTTTAAAAGTTACTACCTCTATTTGGTTATACATCTGGGACCCGAGGTTAAGCCAGGAGCACATTCTAGTTTTCAGCCTCCTTTTCGTAAATTGAAAAGCCACATTTATCCTTGAGATACTAATTATCTTAAGGATTTAAATTATGTTGATTCAAAGAAAATGTTTAAAATAAAATATGGACATTCAGAGAAAAAATAACTAAAAAGCATCAAATGGTTCAGAAGCTCCTAAATATTATAAAAAATAAGAGTTGTTTGAGTTGGAGCTGCTCCTCCTCCCCTCTCATCCCACCCCTTTTCTTTTCAAAAATAGGTAGCTCAAGAATTTATCATGAAAAAAACCTCTCAGTTGGATCAAGAAAGTATTTGGAGGAATAAAAATTGAATGATTTACATTTAGACAGAAATTGAACATAAGCCAAGGTTTTGGAAATTTTAAAAGGATGTGTTTAGGTGGCTGCTTGATTTTTAGTCTGTAGAAGTATTTTTGCTATAGGGAGCGAGTTGGATTCTGTAAATTTTAAAAATACGGGGGAAAGCCACAGAATGCATGTTGGGATTCTTTCTGGTCCTGAAAAGGTGCAGTGTCTGCCTCTTTCCTCCTTAGGCTGGTTTTCCAGCCCTGCTCCGCATCCCACTTACACAGCACTCCTGATCTTCCGCTGGAACTCCGTGTCATGTTCCTCCATGTGTCACTCATCCCACACAGCCCTCTGCAGTGTCCTGAGTGACGTGAGTTCCTCATCAGTGCTTGTGGTACAAGTGAATTTCTCCATCTTTTTGTACCCCTCATATTGCTTCCTTCCACTTGTCTCAGGCTGTGATTTCGTTTGGAAGCATCACAACACTTTAAAAATCTCAACGATTCCCAGTAGAGTAGAATCCTAGTGTTATCATTATGGTATCAGTCA
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GCATTAGACTTTCAGTGACTCTGCACTGCCAACCAACCAAACTACAAACTCCTCAGCTTGCTATTCTGCAGTCTGACATTTGCCACCTTTCCTCCTGTTTTTCCAGTAAATACTGCTCTATGCCTAGCTCAGTGATAGCCCCCCCAAATACAGCAGTGAACTACACAGACAGGGGTCCTACCTTCATGGAGCTTATATTCCAGTGAGGAGTCAGAGTGTAGTAAGTGTCATGAAGGAAATAAAAGGAGGATGTGAGCGAGGGAGTAACTGGGGAGACTTACGTTAGATGAGGTCATCAGGAAGGTTCCCCTTAACAAGTAGTATTTCCAATGGGATCTGAAGGATGAGAAGGAGCCAGCTGTGGAAAGAGGCAAATGAAACAAAAGTACAAGAACCCAGGGACAAGAAAGAGCTTGGAATGCTCAAAGAATAGAAGAAGTCTCATGAATGGATAATAGTGATTGAGCTAAAGAGAAGTGTGAGATGCACTTACTGGCAGAGAAAGAGTTTACATTTTATATCAGGTATAGCATCAAAGAATTTTCAATGTTCAAAGCAGCGATGTGATTTGATCTGTTTTCATTTTAAAAACATCACTCTGAAGAGAAGCAAGATGGAAGCAAGGAGACCAGTTAGGGGGTAAAGCTCTTATGGCAATTGCTTGGACTATGTTAGGGTTTCTCAAGCTCAGCACTACTGGCATTTTAGGCTAGAAAATTATTTGTTGTTGGGGGGTGTCCTATGCACCATAAGATGTTAAGAAGCATCCTCAGCCTTTATCCACTAGAAGACAAGTAGCACCCTCCCCTGCAATCAAAAGTGTTTCCAGACAATGCTAAATGTCCCCTGGGGGGCAAAACTACCCCTGGTTAAGAACTGCTGGACTAAATGCTGGCAGTGTGATGGGTTTGAAACATAGTGTAGAGATAGAACAGACACTACTTTGCAATGAACGGGATATAGCGAGTGACAAAGGAGATAATCAAATATGCTTCCTAGGTTTTTGGTTGAAGAATCTAGGTAGATGGTATCATGCATACTTTGGATTCTTGACATAGGTCTTCCCTTCCCTTGTGCCTGTTCTTGGAATTATCCATGTACCTGTAATGTTGCTCACCCTACCATTCTCTTCCTTTCTCTTCATCCTCTCTAGAAAATCCAACTTAAATGTCATCTTCTTGAAGCTTTCCCAGATTTGCCCACCAATGGTGATCCTTTTTCCAGCGGATTTCTACAGCTGCATATCAGCACCACTCTTGGACACTTTCTGGCCCTGTCAGCTTCTGTAAACCCCAGGAAAGAAGCGCCAGGGCCTACCGAAAAGGAGCAGCCTTGGTGGAAGCTTGAAATGTCTGGCTTTGATTCTGTACCTCGCCTCTTCCCTTGGTTCCTGCTGGTGGCTTGTAGGATTATCATCTCCCACTACGCATTCTCTGACCGCTGGGACCATCATCTCTTATAGGCAAGACCACTCCTAGGCTTGTCTGCAGTTTGTCACAGACTTGGGATCCTTGTTATTTGCTGTCTTGTGTTACAGTTATTAAGGCATATCTGCCGTCTCCCTTTCAAATTAGTCAAGAGCAAGAATAAGACCATATACATCTTTATCCCTGGCAGTGCGTACTGATTACAAATTTGGTATTTAGTAAATGTCTGTTGAATGAATAAGTGAATGATTGAATCTGGAAGACTGACCTTATTTTTTTTCTCTTGAGTATGGAATTAAAAGAAAATTAACATTTTTATATAATTAGTACATGTAGTTTTTATAATCAGAAAAATGTGGATCTTTTTTAAGCCAAAGATCAGCCTGTACTTTGTGTTATTAATATAATCAATTAGTTTATATGAAGGATGGCTTGTTTTTTGTCGTTCTGGCCTTTACAGTTGGGACTCCTGTTGGTAACAGTGTGTCTGCTCTGTTTCTGTATCGCAGCTCTGGTTGTAAGTACCACTGCAGCTGGATTTGCATTGGCTCCGGGCCCTTTTGACTGGCCCTGTTTCCTGCTTACTTCTGTTGGGACAGGCCTTGCATCCTGTGCTGCCAAATCCATCAATCAGGTCAGTTTCTCACTTTCATCTAAATTATGTTATTGTCACTTTTTCCTAGATGGCTGTATTGTCATATTTTTAAATACCTTCCAAACTCATATATTGATGGAGAAGCATTTGTAACACTATATATCCTATAGGAGCCTGTGGGTTTCATAACCAATTTGTCTTTTCTTTTGAGGTGAATGGTTTTCAGATATGTTCAGGTGAGAGAGCAGTAGATTAGATGCTTCAAATGACTAGGATTCCTTGGGTTAAAACATGTTTTTGAGCTGTCATAACTTTCTACTCTTAGTGGTATCTTTGTTTATCCATTTCAGATACATTTCCCTGAGCTTGTCATTGTGCACTACTCTTTCTTGGTTTGATTTCTTTGCATTTTAAACCACTGCTATAAAGAACAGAATATATTTTAACTATGCATATTCAGCTATTTTTAAAAAATCATAATTTAGTACTCAGTTAACTTGGTATATGGAATACGGTTATACCCCAAAATTAGCATATTATTTTTAATACATCCCCCCCTATTATTTTAAACATCAAAATAATTCTCCCAAATAATTTTTTTTCCCATCTAGTCACTGTGGTCTGCCTTAACGTTGTGGCTTTTTCATAAGATATTATAGTGAAAAATTTTGGCCAAAACTTAAGGAAAATCGTTTTCATTACCAGAACACCCAAGAGGAGTTGGCTCAGTTTTAAAACAGGAATTCAAGTTACCAGCAGGAAAACAGCTTGGCTGAGTGGACATATAAGTTGCTAGTGTGCAAAATACGTGAATTTAATGTGATAATGCCTATAGTCATTATGGTTCTACAATATATTGTCAGCTATTTGGAGAAGGATCAATCTATTTCAAATAAGTTTTTTTGTTGTTGTTGTTATTTTGGATGTCAAAACAATCTTATAGTGAGGTTCAAATAGTGCTACCACTTTACCAAAAAGATCATCCCCTTCTATAAAGCAGGACACCATCTCTTCCAAGTAGTTTCTTCCTTTTGCTACCTTCCCATGTTTTCTGGTAAAGAGAATAAACATGATTCCACCATGAACATATTTTTAATGAAAATGCGAATGAAAAGCAATATAAGCCAAATTGATTTATTTGTCCATTTGGGTCTATTTTTTATTTTTAAAAGTTACTACCTCTATTTGGTTATACATCTGGGACCCGAGGTTAAGCCAGGAGCACATTCTAGTTTTCAGCCTCCTTTTCGTAAATTGAAAAGCCACATTTATCCTTGAGATACTAATTATCTTAAGGATTTAAATTATGTTGATTCAAAGAAAATGTTTAAAATAAAATATGGACATTCAGAGAAAAAATAACTAAAAAGCATCAAATGGTTCAGAAGCTCCTAAATATTATAAAAAATAAGAGTTGTTTGAGTTGGAGCTGCTCCTCCTCCCCTCTCATCCCACCCCTTTTCTTTTCAAAAATAGGTAGCTCAAGAATTTATCATGAAAAAAACCTCTCAGTTGGATCAAGAAAGTATTTGGAGGAATAAAAATTGAATGATTTACATTTAGACAGAAATTGAACATAAGCCAAGGTTTTGGAAATTTTAAAAGGATGTGTTTAGGTGGCTGCTTGATTTTTAGTCTGTAGAAGTATTTTTGCTATAGGGAGCGAGTTGGATTCTGTAAATTTTAAAAATACGGGGGAAAGCCACAGAATGCATGTTGGGATTCTTTCTGGTCCTGAAAAGGTGCAGTGTCTGCCTCTTTCCTCCTTAGGCTGGTTTTCCAGCCCTGCTCCGCATCCCACTTACACAGCACTCCTGATCTTCCGCTGGAACTCCGTGTCATGTTCCTCCATGTGTCACTCATCCCACACAGCCCTCTGCAGTGTCCTGAGTGACGTGAGTTCCTCATCAGTGCTTGTGGTACAAGTGAATTTCTCCATCTTTTTGTACCCCTCATATTGCTTCCTTCCACTTGTCTCAGGCTGTGATTTCGTTTGGAAGCATCACAACACTTTAAAAATCTCAACGATTCCCAGTAGAGTAGAATCCTAGTGTTATCATTATGGTATCAGTCA
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Task1_train_23820
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Consider this mutation in COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 3
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GCCTGTAATCTCTGTACTTTGAGAGGCTGAGGCAGGAGGATTGCTTGGGGCCAGGAGTTCAAGGCCAGCCTGGGCAACATGGTGAGACCCCATCTCTACAAAAAGTTGTTTTAAAAAGTTTTCTGAGTTTGGTGACGTGCACCTATAGTGCCAGCTATTCAGGAGGCTGAGGCAGGAGGATGACTTGAGCCCAAGAGATCGAGGCTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCAACCTTGTCCTGAGGAACTTTCCCTGTCATTCTCAGCACTCCAGCCAAACCACACCACCTTCCTTTTTTTTTAATCATGCAATAAAATTGACTTTTTAAATATATATAGTTCTGTGACTCCTAACACGTGTTAATCTTCTTTTTTACACCGCCCACACCTCAAACCTTCCAGCCCCAAGGCCTTTATGAATACTGTCCCCTCCACCAGCCCTGACTTGACAAAGTCACCACTCTCTCCAGCTCAGCTGAGACATCCCTTCCTCAGAGAAGCCACCTCTGGTCCCCTAGACTCAGTCAGCTCCTCTTATGTGTCTTCACTGCACCATGCACTTTTCCTCACTGCATTTGGAGTGGTGACTTTAGAGTCACTAGTGTGGCTCTTGATGTCTACCTCCTTGACTGAAGGGTCTGCTCGGTGCAGGCAGGAGCACGTGTGGATTGTTGCTCGCCATGGTATCCCCAGTGCCTAGCACGGTGCTTACCCCATAGTAGGCGCCCGGGGAGCATTTTTTGCGCGAGTACTCAGTCACCTGCACAGGAATAACCAGCCCCTGCCTTCCAGCCCCCACCCTACTGCCTGTCCTTAGGTGGCTTCGTGCATGTCATAGAAGGACCCTGGCCTGAAAATCAAGCAGCCTTGTTTTGAATTGCTCTTCCGTCTCTTTTTGGAGAACTTGGCATTGCCTAATTTTTTTTTTCACTGAAGTTTATAAATCTACCTCAAAATCCAATGGTCAAGATTAAATGGGGCAAACTATGAGAGTAGGGTCTGTCACATAATAGGAGCTCAGCGAGCAGCAGCCTTCATTCCACCCATGTGGGTGCTGGGGAGACTGTTCCAGAGAAAGGGGCAAAATGGTGCTCAGGGTGTTATGTCCTTGTTGAAAAATTACAAAGCCATAGACAAGTTATCATTGTACTCTGGGACCGTTTTGTCCTTGTGACTCATTTTATTTAACACATGTGGTTTTGACACCTCCCGCTTGTGCCATTGTGCCAGGCTCTGGGGGATGGTGAGAGGAATGTGGCAGGCTTGTGCCCTGGAAGCCCTGGTGAAAGAGGTAAACAGATCAGAGCCAGGGTGTGACGCACCCGCCTGCAGGTACATCCGGCTCTGTGTCAGTGCTGAGCCAGGAGCACTGACTGCCCTGGAAAGGGAGCCAGGGCTCACAGAACAGGCGGAGCGGACTTGCAGCGTCCTCCAGGTTACAGCACTGCTTCCACCTGCCTGAAGCCACACACCCGGGTCCCAGCGGGCGGAAATGGAGCTCAGCGCTCCAGCACAATGGTTGCACCCAGAGGTAGTACTGAAGTAGATACTGAATTCCCTACAAGTGTTTGCCCGTGTGTAGGGGCTTCTTTGCTCCCCACAATGTGGGGAGGTGTGAGGAGCATCAGGTGGGCAGGAGCCAGCGATGGTAAGCGTCCTGCAGCGCAGGCAGCCCCCCTGTGAAGCAGGGTCTGAGCCAGACCCCACAGCCTCCTGCCCCCAGGCACACTGGCACCCCCAGGTGAGAAAGGAGGGATCTTAGCTCATCGGCTGCCCCACCAGCCTGATGTAGGCACCTGTCTCCCAGCCACCCTGTGATGTAGGCAGGCAGCGATGAGAGCACAGGGTGGCAGAGCTTCTGAGGTGCCAGGCAGGCTCTCCCAGGAGAGGAAACCATTCTTTGGAAATCTCTGGTGATGACTGCCTTTGTCTCCCTCTCCTTCCCTGACCCCCGCACAGGCGCATTTCTCCTGGGAGGAATCCTCTACTCCTGGCAGTTTCCTCATTTCAACGCCCTGAGCTGGGGCCTCCGTGAAGACTACTCCCGGGGCGGCTACTGCATGATGTCGGTCACCCACCCGGGCCTGTGCCGGCGCGTGGCGCTGCGCCACTGCCTGGCCCTGCTCGTGCTGTCCGCAGCAGCCCCTGTGCTGGACATCACCACATGGACCTTCCCCATCATGGCCCTTCCCATCAATGCGTACATCTCCTACCTCGGCTTCCGCTTCTACGTGGACGCAGACCGCAGGAGCTCGCGGAGACTGTTCTTCTGCAGCCTGTGGCACCTGCCGCTGCTGCTGCTGCTCATGCTCACCTGCAAGCGGCCGAGCGGAGGCGGGGACGCAGGGCCCCCTCCCAGCTGAGAGCACTGGGACGCCCACCGCCCCTTTCCCTCCGCTGCCAGGCGAGCATGTTGTGGTAATTCTGGAACACAAGAAGAGAAATTGCTGGGTTTAGAACAAGATTATAAACGAATTCGGTGCTCAGTGATCACTTGACAGTTTTTTTTTTTTTTAAATATTACCCAAAATGCTCCCCAAATAAGAAATGCATCAGCTCAGTCAGTGAATACAAAAAAGGAATTATTTTTCCCTTTGAGGGTCTTTATACATCTCTCCTCCAACCCCACCCTCTATTCTGTTTCTTCCTCCTCACATGGGGGTACACATACACAGCTTCCTCTTTTGGTTCCATCCTTACCACCACACCACACGCACACTCCACATGCCCAGCAGAGTGGCACTTGGTGGCCAGAAAGTGTGAGCCTCATGATCTGCTGTCTGTAGTTCTGTGAGCTCAGGTCCCTCAAAGGCCTCGGAGCACCCCCTTCCTGGTGACTGAGCCAGGGCCTGCATTTTTGGTTTTCCCCACCCCACACATTCTCAACCATAGTCCTTCTAACAATACCAATAGCTAGGACCCGGCTGCTGTGCACTGGGACTGGGGATTCCACATGTTTGCCTTGGGAGTCTCAAGCTGGACTGCCAGCCCCTGTCCTCCCTTCACCCCCATTGCGTATGAGCATTTCAGAACTCCAAGGAGTCACAGGCATCTTTATAGTTCACGTTAACATATAGACACTGTTGGAAGCAGTTCCTTCTAAAAGGGTAGCCCTGGACTTAATACCAGCCGGATACCTCTGGCCCCCACCCCATTACTGTACCTCTGGAGTCACTACTGTGGGTCGCCACTCCTCTGCTACACAGCACGGCTTTTTCAAGGCTGTATTGAGAAGGGAAGTTAGGAAGAAGGGTGTGCTGGGCTAACCAGCCCACAGAGCTCACATTCCTGTCCCTTGGGTGAAAAATACATGTCCATCCTGATATCTCCTGAATTCAGAAATTAGCCTCCACATGTGCAATGGCTTTAAGAGCCAGAAGCAGGGTTCTGGGAATTTTGCAAGTTATCCTGTGGCCAGGTGTGGTCTCGGTTACCAAATACGGTTACCTGCAGCTTTTTAGTCCTTTGTGCTCCCACGGGTCTGCAGAGTCCCATCTGCCCAAAGGTCTTGAAGCTTGACAGGATGTTTTCATTACTCAGTCTCCCAGGGCACTGCTGGTCCGTAGGGATTCATTGGTCGGGGTGGGAGAGTTAAACAACATTTAAACAGAGTTCTCTCAAAAATGTCTAAAGGGATTGTAGGTAGATAACATCCAATCACTGTTTGCACTTATCTGAAATCTTCCCTCTTGGCTGCCCCCAGGTATTTACTGTGGAGAACATTGCATAGGAATGTCTGGAAAAAGCCTCTACAACTTGTTACAGCCTTCACATTTGTACAATTCATTGATTCTCTTTTCCTTCCACAATAAAATGGTATACAAGAACAGGAGTGTGTGTGACGTCATTGGAAGTAATCATCCTGTGCTGAGTTCGCACAGTTCTTGGTAGAACCGACACTTGATCACGCCTTCAAGAGCTGGCAGAGGGTGCGTGGGAGGTTGGTTTTGTTTCGTAAATTGACAAATTGTAGTTGTGTATATTTATGAGGTAATAAAGTGATGTTATGATTTATGAAGACAATTGAAATAATGAAATCAAGCTGATGAATGTATTCATTACCTCAGATACTTATTTTTGTGATA
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GCCTGTAATCTCTGTACTTTGAGAGGCTGAGGCAGGAGGATTGCTTGGGGCCAGGAGTTCAAGGCCAGCCTGGGCAACATGGTGAGACCCCATCTCTACAAAAAGTTGTTTTAAAAAGTTTTCTGAGTTTGGTGACGTGCACCTATAGTGCCAGCTATTCAGGAGGCTGAGGCAGGAGGATGACTTGAGCCCAAGAGATCGAGGCTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCAACCTTGTCCTGAGGAACTTTCCCTGTCATTCTCAGCACTCCAGCCAAACCACACCACCTTCCTTTTTTTTTAATCATGCAATAAAATTGACTTTTTAAATATATATAGTTCTGTGACTCCTAACACGTGTTAATCTTCTTTTTTACACCGCCCACACCTCAAACCTTCCAGCCCCAAGGCCTTTATGAATACTGTCCCCTCCACCAGCCCTGACTTGACAAAGTCACCACTCTCTCCAGCTCAGCTGAGACATCCCTTCCTCAGAGAAGCCACCTCTGGTCCCCTAGACTCAGTCAGCTCCTCTTATGTGTCTTCACTGCACCATGCACTTTTCCTCACTGCATTTGGAGTGGTGACTTTAGAGTCACTAGTGTGGCTCTTGATGTCTACCTCCTTGACTGAAGGGTCTGCTCGGTGCAGGCAGGAGCACGTGTGGATTGTTGCTCGCCATGGTATCCCCAGTGCCTAGCACGGTGCTTACCCCATAGTAGGCGCCCGGGGAGCATTTTTTGCGCGAGTACTCAGTCACCTGCACAGGAATAACCAGCCCCTGCCTTCCAGCCCCCACCCTACTGCCTGTCCTTAGGTGGCTTCGTGCATGTCATAGAAGGACCCTGGCCTGAAAATCAAGCAGCCTTGTTTTGAATTGCTCTTCCGTCTCTTTTTGGAGAACTTGGCATTGCCTAATTTTTTTTTTCACTGAAGTTTATAAATCTACCTCAAAATCCAATGGTCAAGATTAAATGGGGCAAACTATGAGAGTAGGGTCTGTCACATAATAGGAGCTCAGCGAGCAGCAGCCTTCATTCCACCCATGTGGGTGCTGGGGAGACTGTTCCAGAGAAAGGGGCAAAATGGTGCTCAGGGTGTTATGTCCTTGTTGAAAAATTACAAAGCCATAGACAAGTTATCATTGTACTCTGGGACCGTTTTGTCCTTGTGACTCATTTTATTTAACACATGTGGTTTTGACACCTCCCGCTTGTGCCATTGTGCCAGGCTCTGGGGGATGGTGAGAGGAATGTGGCAGGCTTGTGCCCTGGAAGCCCTGGTGAAAGAGGTAAACAGATCAGAGCCAGGGTGTGACGCACCCGCCTGCAGGTACATCCGGCTCTGTGTCAGTGCTGAGCCAGGAGCACTGACTGCCCTGGAAAGGGAGCCAGGGCTCACAGAACAGGCGGAGCGGACTTGCAGCGTCCTCCAGGTTACAGCACTGCTTCCACCTGCCTGAAGCCACACACCCGGGTCCCAGCGGGCGGAAATGGAGCTCAGCGCTCCAGCACAATGGTTGCACCCAGAGGTAGTACTGAAGTAGATACTGAATTCCCTACAAGTGTTTGCCCGTGTGTAGGGGCTTCTTTGCTCCCCACAATGTGGGGAGGTGTGAGGAGCATCAGGTGGGCAGGAGCCAGCGATGGTAAGCGTCCTGCAGCGCAGGCAGCCCCCCTGTGAAGCAGGGTCTGAGCCAGACCCCACAGCCTCCTGCCCCCAGGCACACTGGCACCCCCAGGTGAGAAAGGAGGGATCTTAGCTCATCGGCTGCCCCACCAGCCTGATGTAGGCACCTGTCTCCCAGCCACCCTGTGATGTAGGCAGGCAGCGATGAGAGCACAGGGTGGCAGAGCTTCTGAGGTGCCAGGCAGGCTCTCCCAGGAGAGGAAACCATTCTTTGGAAATCTCTGGTGATGACTGCCTTTGTCTCCCTCTCCTTCCCTGACCCCCGCACAGGCGCATTTCTCCTGGGAGGAATCCTCTACTCCTGGCAGTTTCCTCATTTCAACGCCCTGAGCTGGGGCCTCCGTGAAGGCTACTCCCGGGGCGGCTACTGCATGATGTCGGTCACCCACCCGGGCCTGTGCCGGCGCGTGGCGCTGCGCCACTGCCTGGCCCTGCTCGTGCTGTCCGCAGCAGCCCCTGTGCTGGACATCACCACATGGACCTTCCCCATCATGGCCCTTCCCATCAATGCGTACATCTCCTACCTCGGCTTCCGCTTCTACGTGGACGCAGACCGCAGGAGCTCGCGGAGACTGTTCTTCTGCAGCCTGTGGCACCTGCCGCTGCTGCTGCTGCTCATGCTCACCTGCAAGCGGCCGAGCGGAGGCGGGGACGCAGGGCCCCCTCCCAGCTGAGAGCACTGGGACGCCCACCGCCCCTTTCCCTCCGCTGCCAGGCGAGCATGTTGTGGTAATTCTGGAACACAAGAAGAGAAATTGCTGGGTTTAGAACAAGATTATAAACGAATTCGGTGCTCAGTGATCACTTGACAGTTTTTTTTTTTTTTAAATATTACCCAAAATGCTCCCCAAATAAGAAATGCATCAGCTCAGTCAGTGAATACAAAAAAGGAATTATTTTTCCCTTTGAGGGTCTTTATACATCTCTCCTCCAACCCCACCCTCTATTCTGTTTCTTCCTCCTCACATGGGGGTACACATACACAGCTTCCTCTTTTGGTTCCATCCTTACCACCACACCACACGCACACTCCACATGCCCAGCAGAGTGGCACTTGGTGGCCAGAAAGTGTGAGCCTCATGATCTGCTGTCTGTAGTTCTGTGAGCTCAGGTCCCTCAAAGGCCTCGGAGCACCCCCTTCCTGGTGACTGAGCCAGGGCCTGCATTTTTGGTTTTCCCCACCCCACACATTCTCAACCATAGTCCTTCTAACAATACCAATAGCTAGGACCCGGCTGCTGTGCACTGGGACTGGGGATTCCACATGTTTGCCTTGGGAGTCTCAAGCTGGACTGCCAGCCCCTGTCCTCCCTTCACCCCCATTGCGTATGAGCATTTCAGAACTCCAAGGAGTCACAGGCATCTTTATAGTTCACGTTAACATATAGACACTGTTGGAAGCAGTTCCTTCTAAAAGGGTAGCCCTGGACTTAATACCAGCCGGATACCTCTGGCCCCCACCCCATTACTGTACCTCTGGAGTCACTACTGTGGGTCGCCACTCCTCTGCTACACAGCACGGCTTTTTCAAGGCTGTATTGAGAAGGGAAGTTAGGAAGAAGGGTGTGCTGGGCTAACCAGCCCACAGAGCTCACATTCCTGTCCCTTGGGTGAAAAATACATGTCCATCCTGATATCTCCTGAATTCAGAAATTAGCCTCCACATGTGCAATGGCTTTAAGAGCCAGAAGCAGGGTTCTGGGAATTTTGCAAGTTATCCTGTGGCCAGGTGTGGTCTCGGTTACCAAATACGGTTACCTGCAGCTTTTTAGTCCTTTGTGCTCCCACGGGTCTGCAGAGTCCCATCTGCCCAAAGGTCTTGAAGCTTGACAGGATGTTTTCATTACTCAGTCTCCCAGGGCACTGCTGGTCCGTAGGGATTCATTGGTCGGGGTGGGAGAGTTAAACAACATTTAAACAGAGTTCTCTCAAAAATGTCTAAAGGGATTGTAGGTAGATAACATCCAATCACTGTTTGCACTTATCTGAAATCTTCCCTCTTGGCTGCCCCCAGGTATTTACTGTGGAGAACATTGCATAGGAATGTCTGGAAAAAGCCTCTACAACTTGTTACAGCCTTCACATTTGTACAATTCATTGATTCTCTTTTCCTTCCACAATAAAATGGTATACAAGAACAGGAGTGTGTGTGACGTCATTGGAAGTAATCATCCTGTGCTGAGTTCGCACAGTTCTTGGTAGAACCGACACTTGATCACGCCTTCAAGAGCTGGCAGAGGGTGCGTGGGAGGTTGGTTTTGTTTCGTAAATTGACAAATTGTAGTTGTGTATATTTATGAGGTAATAAAGTGATGTTATGATTTATGAAGACAATTGAAATAATGAAATCAAGCTGATGAATGTATTCATTACCTCAGATACTTATTTTTGTGATA
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Task1_train_23821
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Here’s a variant in PMP22 (peripheral myelin protein 22) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Charcot-Marie-Tooth disease, type I
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TTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAGACACAACTCAGAAACCCTGAGCTGGGTGACAATGGTGGCCTTTTCTCTCCTTCAGGATGGCATTAGGAGCTTAGTTGGTGCCAACCAATGTTTTATCTGCAAGTGTGGCCTCAAGTCACCATCATTCAGACCTTTCACCATATCATACCTCAGGGTGAGGGATCTGAGATGCTTCTGCCAACATTCCCAGTATATCAGGGCAGCTCATGACATGCCTCCATGTTTTCCATGTGGGTCATCAAACAACAGAGCACCAGAGAGGGTTGAACTAAATGAATACTCAAGTGCCTTCCAGTCCATTTACAGCCTCCATTTCAGCTGCAATTCCCAACTGTCTCCAATTAGCAAACCTTTGCACAGACATCATGAAGGCATCATGTGCTCCCTGTAGCTTGTAAAACAGCTATGATTTTGGTGCCTTAGCACCATCTTGTAACCCAAATCTCCAGCTCAACTTTGCTTTCCACTGAAGCTCTTCATCCTGCTCCAACAGGCACCTTGTACCCACACCCAAGTTCCCACAAAAACTCAAGAGAGACCAGTGAGTTACTCTGATGTTTATTTTAATGCATCTTAGTCCACACAGTTGGTATAAAATCAGAAAATGCAAAGCAAAAACAAAAGGTCTGGAGTCTTAGCATCAGAAGGGCACCATATATACATCTACAGTTGGTGGCCAATACAAGTCATTGCCAGACAGTCCTTGGAGGCACAGAACAGCCTAGACCCAGCCAAGCTCTAGGAACTCACGGTCCCAAGGAGTCTAGACGCTTGTTCTGATGCTCCGACCGTAAGAAAAATGTGGGAGTGATGAAGGCTTTATGATTTACTCATTATAGTAATAATAGCAGCCTAGCTAGGTACAAAAGCAGTTATAAACCATTTATATTACACAGAATTATTCAGGTCTCCATTCTATCTTATGTTGTAAAATTGTTAATTGGATTTCCAGTGAGTTGTTTAGATGATTAGTGATAATAAGGAATGGTAAATCCATAGCACCATTTCAAAGACTTGTTGTCACTGATTTCTCATTTAGATGTGTGACGAAGATACTCCACCTGTAAGGGCAAGTATGCCAATGCCACAAGCCGTGTTTTTGCAAGGGCTCCAGTTTGGGCATTTTGTCCGTGTGCGCGTAAAGCTTCACACAGAGGTTCGGGCAGCGGCTGTTTCTGTTGGATGCACTGGGTCACCCACCAGAAAAGGGCTTTTGGACATTTGGGGTTTCTACCCACACTTTGGTTTTCTAAATGAGGTGGACTGGGAGGGAGGTATCTTCTTTCAGATGAAAGGGAAGGGGCGAGATGGAGTTATCTTATTTCTGGGTAAAACAAAACAAACAAACAAAAAACAAAACAAAAATACTGAGCTGGATTATACTGTTAGGATGTAAAGTTCCTTAGCTACTTCTTTAAGGCTCAACACGAGGCTGATGGTCAACATAAAAAGCAAACAATACTATGTACATATATGTAAAAAGTGTTATAAATAGGTTTTATAAACCGGAGATATTATATACATCTTCAATCAACAGCAACCCCCACCTCCACTGCTTTCTGTTTGGTTTGGTTTGAGTTTGGGATTTTGGGCTAGCTCTTTTTTCTTTGTCTGCTTTCTGTTTTCCCTTCCTCCCTTCCCTATGTACGCTCAGAGCCTCAGACAGACCGTCTGGGCGCCTCATTCGCGTTTCCGCAAGATCACATAGATGACACCGCTGAGAAGGGCCAGGGGGAAGGCCACCCAGGCCAGGATGTAGGCGAAACCGTAGGAGTAATCCGAGTTGAGATGCCACTCCGGGTGCCTCACCGTGTAGATGGCCGCAGCACTCATCACGCACAGACCTGGGGAAGGAGAGGGACAAGCTGGGTGACGGAGAGTCCATGGCAGAGCGGCCCCCTCTCCGCCACCCCGGATGCTGACAATTGCTGGGTAGGAAGAACATTTCTACCTCTGGAAGGAAATCTGCTTCCAGGTCCAGAATTGAAAGGAGGTAGCACAAAAATATGGGAACAAGGAAAACAACTTGCTCTCTATTTCCAATCTTGGCCACCTAGGCCTTAATACCTGAGGGTTTTCTTTACATTTTCTGCCCTATTTCTCTTTCTTTCACTGTCACCAATTCCCAGGCCACACTACATGGCCAGCAGGCATTCAGGCTGCAAGAAAAACCTACCTGTCTCTTTCCAAGGGTGGTTGGGTATGGAAACCCCTGGAAATCTATATGCCACTCTACAAGTGAGTGGTGGCATTACCTAAAGCCAATGGAAGTGAAGTGACATTTTACCATTATTGGAGTCACGCCATGGTAAAAGGATTAAGCTCCATGCAGACCACAGGGGCCTATGGTCCCCCTAACAGAGTTGCCACATACCAGGTGAAGCAAGCAATGCCTATGGGCACTGCCAAACAGACAAAGAAATGTGTGGAGAGGGAAAAAGAAAGTGAGGAATAAGGATGCAGCCGACAGTATGACTGGGAAGCCACGCTGCAGAGGGGGAAGATGATCAAAGGCAAGCTCCATTTCCCTGGGTGCCCCAAGGTTGCATTTGAAGCCCAAAGAAGGCTAAAGGGCACTGGATATGCAGGTGGGTCAGGCCACCCTCCCTGGCCCACCAATGCAGCCCTTCGGTGTTGGAAAGAGAAGAAAAGCCTCCATCTTGGGCCCTGTGGAGCAGCCACGCTCAAACTGATGGCCCCAGCTCACGTGACAGACAGCGTCCCCCCACAAGGAGGGGTCCAGTGATGTCAGCACCCCAGCCTGGAGCTGCACAAAGCCTGGTCTGTTTCCTCCCTGAAAACAGGGTCTTTGAGAAGCTCTGAGTGACTCTATTATAAATCCAGTATGCCGTGTGGGATTCATGCAGTTCCAGAGTTCCCAATGCACCCGCGCCCCCCCACCGCCCGGCCACCTACATCTAACCTCACTGCTATTTGGGCTGCTGTTTTACTGGACACTGCAACTTTGTTTGAAGACAGTGCAGAAGTGGGAATACGCCACATGAACCACCCTGTTAAGCCTGTCCTCCTGCAACTCAGAGGAGAAAACTGCCACTTGACTGGCCCCTGTCAAGAGAGCCACACAATAGTCTTGGAACCAAAATGGGACAGCATCCAGGACCTGCCACCTACAGGAAGTTCAGAAGACAGCAAAGATGGCCATGTCAGGAGCGAAATCATTGCGGGTTAATTGTTGATTGCAGAAAACAGCAGTTTTGATCTGCTGGGGACACACTTTATTTGCCTTGAGGTCCAGGATCCTTAATTATCTTGCCCCACTCTTCCACGGCTTGCATCTCCAAAGTGCTAACTCTTGTCTTTAAGAAATACTGAAGTTGTCTCTTGGGCTCTGTCTGACTTATCTAATGAAGGCAGGGCTATAAAAAAGGAAACATGACCTTGGCAGAGAGAAAGGTGTTAACAGAGTGCTAGCAGGGCAGGACAACACTTATCATCATGCAGGCAGGGCTCCCAAATGGGCTGTCTAACCAGATCTGGCATGAGAAATGCCTCAGGAGCTGAGTGGACCAGCTACTCCCCGATTTCACTGACTAAGAGGAGATACCAGATTCCATCCTTGAACAAGAGGGATAGAAAGAGGCAGTATAGAGAAGTGCAGCGACTAACTACACAGCTTAATGTGTATGACTTTCATCTTAGTAGAATCTCAGAAGTGAATGACTCTAAGCTTAACCGTGATAAGCAGTAAACTTAGATATCTACAAAGCCAAAGAGAGGATACACACTTTATATGATTGTTGT
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TTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAGACACAACTCAGAAACCCTGAGCTGGGTGACAATGGTGGCCTTTTCTCTCCTTCAGGATGGCATTAGGAGCTTAGTTGGTGCCAACCAATGTTTTATCTGCAAGTGTGGCCTCAAGTCACCATCATTCAGACCTTTCACCATATCATACCTCAGGGTGAGGGATCTGAGATGCTTCTGCCAACATTCCCAGTATATCAGGGCAGCTCATGACATGCCTCCATGTTTTCCATGTGGGTCATCAAACAACAGAGCACCAGAGAGGGTTGAACTAAATGAATACTCAAGTGCCTTCCAGTCCATTTACAGCCTCCATTTCAGCTGCAATTCCCAACTGTCTCCAATTAGCAAACCTTTGCACAGACATCATGAAGGCATCATGTGCTCCCTGTAGCTTGTAAAACAGCTATGATTTTGGTGCCTTAGCACCATCTTGTAACCCAAATCTCCAGCTCAACTTTGCTTTCCACTGAAGCTCTTCATCCTGCTCCAACAGGCACCTTGTACCCACACCCAAGTTCCCACAAAAACTCAAGAGAGACCAGTGAGTTACTCTGATGTTTATTTTAATGCATCTTAGTCCACACAGTTGGTATAAAATCAGAAAATGCAAAGCAAAAACAAAAGGTCTGGAGTCTTAGCATCAGAAGGGCACCATATATACATCTACAGTTGGTGGCCAATACAAGTCATTGCCAGACAGTCCTTGGAGGCACAGAACAGCCTAGACCCAGCCAAGCTCTAGGAACTCACGGTCCCAAGGAGTCTAGACGCTTGTTCTGATGCTCCGACCGTAAGAAAAATGTGGGAGTGATGAAGGCTTTATGATTTACTCATTATAGTAATAATAGCAGCCTAGCTAGGTACAAAAGCAGTTATAAACCATTTATATTACACAGAATTATTCAGGTCTCCATTCTATCTTATGTTGTAAAATTGTTAATTGGATTTCCAGTGAGTTGTTTAGATGATTAGTGATAATAAGGAATGGTAAATCCATAGCACCATTTCAAAGACTTGTTGTCACTGATTTCTCATTTAGATGTGTGACGAAGATACTCCACCTGTAAGGGCAAGTATGCCAATGCCACAAGCCGTGTTTTTGCAAGGGCTCCAGTTTGGGCATTTTGTCCGTGTGCGCGTAAAGCTTCACACAGAGGTTCGGGCAGCGGCTGTTTCTGTTGGATGCACTGGGTCACCCACCAGAAAAGGGCTTTTGGACATTTGGGGTTTCTACCCACACTTTGGTTTTCTAAATGAGGTGGACTGGGAGGGAGGTATCTTCTTTCAGATGAAAGGGAAGGGGCGAGATGGAGTTATCTTATTTCTGGGTAAAACAAAACAAACAAACAAAAAACAAAACAAAAATACTGAGCTGGATTATACTGTTAGGATGTAAAGTTCCTTAGCTACTTCTTTAAGGCTCAACACGAGGCTGATGGTCAACATAAAAAGCAAACAATACTATGTACATATATGTAAAAAGTGTTATAAATAGGTTTTATAAACCGGAGATATTATATACATCTTCAATCAACAGCAACCCCCACCTCCACTGCTTTCTGTTTGGTTTGGTTTGAGTTTGGGATTTTGGGCTAGCTCTTTTTTCTTTGTCTGCTTTCTGTTTTCCCTTCCTCCCTTCCCTATGTACGCTCAGAGCCTCAGACAGACCGTCTGGGCGCCTCATTCGCGTTTCCGCAAGATCACATAGATGACAACGCTGAGAAGGGCCAGGGGGAAGGCCACCCAGGCCAGGATGTAGGCGAAACCGTAGGAGTAATCCGAGTTGAGATGCCACTCCGGGTGCCTCACCGTGTAGATGGCCGCAGCACTCATCACGCACAGACCTGGGGAAGGAGAGGGACAAGCTGGGTGACGGAGAGTCCATGGCAGAGCGGCCCCCTCTCCGCCACCCCGGATGCTGACAATTGCTGGGTAGGAAGAACATTTCTACCTCTGGAAGGAAATCTGCTTCCAGGTCCAGAATTGAAAGGAGGTAGCACAAAAATATGGGAACAAGGAAAACAACTTGCTCTCTATTTCCAATCTTGGCCACCTAGGCCTTAATACCTGAGGGTTTTCTTTACATTTTCTGCCCTATTTCTCTTTCTTTCACTGTCACCAATTCCCAGGCCACACTACATGGCCAGCAGGCATTCAGGCTGCAAGAAAAACCTACCTGTCTCTTTCCAAGGGTGGTTGGGTATGGAAACCCCTGGAAATCTATATGCCACTCTACAAGTGAGTGGTGGCATTACCTAAAGCCAATGGAAGTGAAGTGACATTTTACCATTATTGGAGTCACGCCATGGTAAAAGGATTAAGCTCCATGCAGACCACAGGGGCCTATGGTCCCCCTAACAGAGTTGCCACATACCAGGTGAAGCAAGCAATGCCTATGGGCACTGCCAAACAGACAAAGAAATGTGTGGAGAGGGAAAAAGAAAGTGAGGAATAAGGATGCAGCCGACAGTATGACTGGGAAGCCACGCTGCAGAGGGGGAAGATGATCAAAGGCAAGCTCCATTTCCCTGGGTGCCCCAAGGTTGCATTTGAAGCCCAAAGAAGGCTAAAGGGCACTGGATATGCAGGTGGGTCAGGCCACCCTCCCTGGCCCACCAATGCAGCCCTTCGGTGTTGGAAAGAGAAGAAAAGCCTCCATCTTGGGCCCTGTGGAGCAGCCACGCTCAAACTGATGGCCCCAGCTCACGTGACAGACAGCGTCCCCCCACAAGGAGGGGTCCAGTGATGTCAGCACCCCAGCCTGGAGCTGCACAAAGCCTGGTCTGTTTCCTCCCTGAAAACAGGGTCTTTGAGAAGCTCTGAGTGACTCTATTATAAATCCAGTATGCCGTGTGGGATTCATGCAGTTCCAGAGTTCCCAATGCACCCGCGCCCCCCCACCGCCCGGCCACCTACATCTAACCTCACTGCTATTTGGGCTGCTGTTTTACTGGACACTGCAACTTTGTTTGAAGACAGTGCAGAAGTGGGAATACGCCACATGAACCACCCTGTTAAGCCTGTCCTCCTGCAACTCAGAGGAGAAAACTGCCACTTGACTGGCCCCTGTCAAGAGAGCCACACAATAGTCTTGGAACCAAAATGGGACAGCATCCAGGACCTGCCACCTACAGGAAGTTCAGAAGACAGCAAAGATGGCCATGTCAGGAGCGAAATCATTGCGGGTTAATTGTTGATTGCAGAAAACAGCAGTTTTGATCTGCTGGGGACACACTTTATTTGCCTTGAGGTCCAGGATCCTTAATTATCTTGCCCCACTCTTCCACGGCTTGCATCTCCAAAGTGCTAACTCTTGTCTTTAAGAAATACTGAAGTTGTCTCTTGGGCTCTGTCTGACTTATCTAATGAAGGCAGGGCTATAAAAAAGGAAACATGACCTTGGCAGAGAGAAAGGTGTTAACAGAGTGCTAGCAGGGCAGGACAACACTTATCATCATGCAGGCAGGGCTCCCAAATGGGCTGTCTAACCAGATCTGGCATGAGAAATGCCTCAGGAGCTGAGTGGACCAGCTACTCCCCGATTTCACTGACTAAGAGGAGATACCAGATTCCATCCTTGAACAAGAGGGATAGAAAGAGGCAGTATAGAGAAGTGCAGCGACTAACTACACAGCTTAATGTGTATGACTTTCATCTTAGTAGAATCTCAGAAGTGAATGACTCTAAGCTTAACCGTGATAAGCAGTAAACTTAGATATCTACAAAGCCAAAGAGAGGATACACACTTTATATGATTGTTGT
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Task1_train_23822
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Here is a variant affecting PMP22 (peripheral myelin protein 22) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Charcot-Marie-Tooth disease, type IA
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TTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAGACACAACTCAGAAACCCTGAGCTGGGTGACAATGGTGGCCTTTTCTCTCCTTCAGGATGGCATTAGGAGCTTAGTTGGTGCCAACCAATGTTTTATCTGCAAGTGTGGCCTCAAGTCACCATCATTCAGACCTTTCACCATATCATACCTCAGGGTGAGGGATCTGAGATGCTTCTGCCAACATTCCCAGTATATCAGGGCAGCTCATGACATGCCTCCATGTTTTCCATGTGGGTCATCAAACAACAGAGCACCAGAGAGGGTTGAACTAAATGAATACTCAAGTGCCTTCCAGTCCATTTACAGCCTCCATTTCAGCTGCAATTCCCAACTGTCTCCAATTAGCAAACCTTTGCACAGACATCATGAAGGCATCATGTGCTCCCTGTAGCTTGTAAAACAGCTATGATTTTGGTGCCTTAGCACCATCTTGTAACCCAAATCTCCAGCTCAACTTTGCTTTCCACTGAAGCTCTTCATCCTGCTCCAACAGGCACCTTGTACCCACACCCAAGTTCCCACAAAAACTCAAGAGAGACCAGTGAGTTACTCTGATGTTTATTTTAATGCATCTTAGTCCACACAGTTGGTATAAAATCAGAAAATGCAAAGCAAAAACAAAAGGTCTGGAGTCTTAGCATCAGAAGGGCACCATATATACATCTACAGTTGGTGGCCAATACAAGTCATTGCCAGACAGTCCTTGGAGGCACAGAACAGCCTAGACCCAGCCAAGCTCTAGGAACTCACGGTCCCAAGGAGTCTAGACGCTTGTTCTGATGCTCCGACCGTAAGAAAAATGTGGGAGTGATGAAGGCTTTATGATTTACTCATTATAGTAATAATAGCAGCCTAGCTAGGTACAAAAGCAGTTATAAACCATTTATATTACACAGAATTATTCAGGTCTCCATTCTATCTTATGTTGTAAAATTGTTAATTGGATTTCCAGTGAGTTGTTTAGATGATTAGTGATAATAAGGAATGGTAAATCCATAGCACCATTTCAAAGACTTGTTGTCACTGATTTCTCATTTAGATGTGTGACGAAGATACTCCACCTGTAAGGGCAAGTATGCCAATGCCACAAGCCGTGTTTTTGCAAGGGCTCCAGTTTGGGCATTTTGTCCGTGTGCGCGTAAAGCTTCACACAGAGGTTCGGGCAGCGGCTGTTTCTGTTGGATGCACTGGGTCACCCACCAGAAAAGGGCTTTTGGACATTTGGGGTTTCTACCCACACTTTGGTTTTCTAAATGAGGTGGACTGGGAGGGAGGTATCTTCTTTCAGATGAAAGGGAAGGGGCGAGATGGAGTTATCTTATTTCTGGGTAAAACAAAACAAACAAACAAAAAACAAAACAAAAATACTGAGCTGGATTATACTGTTAGGATGTAAAGTTCCTTAGCTACTTCTTTAAGGCTCAACACGAGGCTGATGGTCAACATAAAAAGCAAACAATACTATGTACATATATGTAAAAAGTGTTATAAATAGGTTTTATAAACCGGAGATATTATATACATCTTCAATCAACAGCAACCCCCACCTCCACTGCTTTCTGTTTGGTTTGGTTTGAGTTTGGGATTTTGGGCTAGCTCTTTTTTCTTTGTCTGCTTTCTGTTTTCCCTTCCTCCCTTCCCTATGTACGCTCAGAGCCTCAGACAGACCGTCTGGGCGCCTCATTCGCGTTTCCGCAAGATCACATAGATGACACCGCTGAGAAGGGCCAGGGGGAAGGCCACCCAGGCCAGGATGTAGGCGAAACCGTAGGAGTAATCCGAGTTGAGATGCCACTCCGGGTGCCTCACCGTGTAGATGGCCGCAGCACTCATCACGCACAGACCTGGGGAAGGAGAGGGACAAGCTGGGTGACGGAGAGTCCATGGCAGAGCGGCCCCCTCTCCGCCACCCCGGATGCTGACAATTGCTGGGTAGGAAGAACATTTCTACCTCTGGAAGGAAATCTGCTTCCAGGTCCAGAATTGAAAGGAGGTAGCACAAAAATATGGGAACAAGGAAAACAACTTGCTCTCTATTTCCAATCTTGGCCACCTAGGCCTTAATACCTGAGGGTTTTCTTTACATTTTCTGCCCTATTTCTCTTTCTTTCACTGTCACCAATTCCCAGGCCACACTACATGGCCAGCAGGCATTCAGGCTGCAAGAAAAACCTACCTGTCTCTTTCCAAGGGTGGTTGGGTATGGAAACCCCTGGAAATCTATATGCCACTCTACAAGTGAGTGGTGGCATTACCTAAAGCCAATGGAAGTGAAGTGACATTTTACCATTATTGGAGTCACGCCATGGTAAAAGGATTAAGCTCCATGCAGACCACAGGGGCCTATGGTCCCCCTAACAGAGTTGCCACATACCAGGTGAAGCAAGCAATGCCTATGGGCACTGCCAAACAGACAAAGAAATGTGTGGAGAGGGAAAAAGAAAGTGAGGAATAAGGATGCAGCCGACAGTATGACTGGGAAGCCACGCTGCAGAGGGGGAAGATGATCAAAGGCAAGCTCCATTTCCCTGGGTGCCCCAAGGTTGCATTTGAAGCCCAAAGAAGGCTAAAGGGCACTGGATATGCAGGTGGGTCAGGCCACCCTCCCTGGCCCACCAATGCAGCCCTTCGGTGTTGGAAAGAGAAGAAAAGCCTCCATCTTGGGCCCTGTGGAGCAGCCACGCTCAAACTGATGGCCCCAGCTCACGTGACAGACAGCGTCCCCCCACAAGGAGGGGTCCAGTGATGTCAGCACCCCAGCCTGGAGCTGCACAAAGCCTGGTCTGTTTCCTCCCTGAAAACAGGGTCTTTGAGAAGCTCTGAGTGACTCTATTATAAATCCAGTATGCCGTGTGGGATTCATGCAGTTCCAGAGTTCCCAATGCACCCGCGCCCCCCCACCGCCCGGCCACCTACATCTAACCTCACTGCTATTTGGGCTGCTGTTTTACTGGACACTGCAACTTTGTTTGAAGACAGTGCAGAAGTGGGAATACGCCACATGAACCACCCTGTTAAGCCTGTCCTCCTGCAACTCAGAGGAGAAAACTGCCACTTGACTGGCCCCTGTCAAGAGAGCCACACAATAGTCTTGGAACCAAAATGGGACAGCATCCAGGACCTGCCACCTACAGGAAGTTCAGAAGACAGCAAAGATGGCCATGTCAGGAGCGAAATCATTGCGGGTTAATTGTTGATTGCAGAAAACAGCAGTTTTGATCTGCTGGGGACACACTTTATTTGCCTTGAGGTCCAGGATCCTTAATTATCTTGCCCCACTCTTCCACGGCTTGCATCTCCAAAGTGCTAACTCTTGTCTTTAAGAAATACTGAAGTTGTCTCTTGGGCTCTGTCTGACTTATCTAATGAAGGCAGGGCTATAAAAAAGGAAACATGACCTTGGCAGAGAGAAAGGTGTTAACAGAGTGCTAGCAGGGCAGGACAACACTTATCATCATGCAGGCAGGGCTCCCAAATGGGCTGTCTAACCAGATCTGGCATGAGAAATGCCTCAGGAGCTGAGTGGACCAGCTACTCCCCGATTTCACTGACTAAGAGGAGATACCAGATTCCATCCTTGAACAAGAGGGATAGAAAGAGGCAGTATAGAGAAGTGCAGCGACTAACTACACAGCTTAATGTGTATGACTTTCATCTTAGTAGAATCTCAGAAGTGAATGACTCTAAGCTTAACCGTGATAAGCAGTAAACTTAGATATCTACAAAGCCAAAGAGAGGATACACACTTTATATGATTGTTGT
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TTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAGACACAACTCAGAAACCCTGAGCTGGGTGACAATGGTGGCCTTTTCTCTCCTTCAGGATGGCATTAGGAGCTTAGTTGGTGCCAACCAATGTTTTATCTGCAAGTGTGGCCTCAAGTCACCATCATTCAGACCTTTCACCATATCATACCTCAGGGTGAGGGATCTGAGATGCTTCTGCCAACATTCCCAGTATATCAGGGCAGCTCATGACATGCCTCCATGTTTTCCATGTGGGTCATCAAACAACAGAGCACCAGAGAGGGTTGAACTAAATGAATACTCAAGTGCCTTCCAGTCCATTTACAGCCTCCATTTCAGCTGCAATTCCCAACTGTCTCCAATTAGCAAACCTTTGCACAGACATCATGAAGGCATCATGTGCTCCCTGTAGCTTGTAAAACAGCTATGATTTTGGTGCCTTAGCACCATCTTGTAACCCAAATCTCCAGCTCAACTTTGCTTTCCACTGAAGCTCTTCATCCTGCTCCAACAGGCACCTTGTACCCACACCCAAGTTCCCACAAAAACTCAAGAGAGACCAGTGAGTTACTCTGATGTTTATTTTAATGCATCTTAGTCCACACAGTTGGTATAAAATCAGAAAATGCAAAGCAAAAACAAAAGGTCTGGAGTCTTAGCATCAGAAGGGCACCATATATACATCTACAGTTGGTGGCCAATACAAGTCATTGCCAGACAGTCCTTGGAGGCACAGAACAGCCTAGACCCAGCCAAGCTCTAGGAACTCACGGTCCCAAGGAGTCTAGACGCTTGTTCTGATGCTCCGACCGTAAGAAAAATGTGGGAGTGATGAAGGCTTTATGATTTACTCATTATAGTAATAATAGCAGCCTAGCTAGGTACAAAAGCAGTTATAAACCATTTATATTACACAGAATTATTCAGGTCTCCATTCTATCTTATGTTGTAAAATTGTTAATTGGATTTCCAGTGAGTTGTTTAGATGATTAGTGATAATAAGGAATGGTAAATCCATAGCACCATTTCAAAGACTTGTTGTCACTGATTTCTCATTTAGATGTGTGACGAAGATACTCCACCTGTAAGGGCAAGTATGCCAATGCCACAAGCCGTGTTTTTGCAAGGGCTCCAGTTTGGGCATTTTGTCCGTGTGCGCGTAAAGCTTCACACAGAGGTTCGGGCAGCGGCTGTTTCTGTTGGATGCACTGGGTCACCCACCAGAAAAGGGCTTTTGGACATTTGGGGTTTCTACCCACACTTTGGTTTTCTAAATGAGGTGGACTGGGAGGGAGGTATCTTCTTTCAGATGAAAGGGAAGGGGCGAGATGGAGTTATCTTATTTCTGGGTAAAACAAAACAAACAAACAAAAAACAAAACAAAAATACTGAGCTGGATTATACTGTTAGGATGTAAAGTTCCTTAGCTACTTCTTTAAGGCTCAACACGAGGCTGATGGTCAACATAAAAAGCAAACAATACTATGTACATATATGTAAAAAGTGTTATAAATAGGTTTTATAAACCGGAGATATTATATACATCTTCAATCAACAGCAACCCCCACCTCCACTGCTTTCTGTTTGGTTTGGTTTGAGTTTGGGATTTTGGGCTAGCTCTTTTTTCTTTGTCTGCTTTCTGTTTTCCCTTCCTCCCTTCCCTATGTACGCTCAGAGCCTCAGACAGACCGTCTGGGCGCCTCATTCGCGTTTCCGCAAGATCACATAGATGACAACGCTGAGAAGGGCCAGGGGGAAGGCCACCCAGGCCAGGATGTAGGCGAAACCGTAGGAGTAATCCGAGTTGAGATGCCACTCCGGGTGCCTCACCGTGTAGATGGCCGCAGCACTCATCACGCACAGACCTGGGGAAGGAGAGGGACAAGCTGGGTGACGGAGAGTCCATGGCAGAGCGGCCCCCTCTCCGCCACCCCGGATGCTGACAATTGCTGGGTAGGAAGAACATTTCTACCTCTGGAAGGAAATCTGCTTCCAGGTCCAGAATTGAAAGGAGGTAGCACAAAAATATGGGAACAAGGAAAACAACTTGCTCTCTATTTCCAATCTTGGCCACCTAGGCCTTAATACCTGAGGGTTTTCTTTACATTTTCTGCCCTATTTCTCTTTCTTTCACTGTCACCAATTCCCAGGCCACACTACATGGCCAGCAGGCATTCAGGCTGCAAGAAAAACCTACCTGTCTCTTTCCAAGGGTGGTTGGGTATGGAAACCCCTGGAAATCTATATGCCACTCTACAAGTGAGTGGTGGCATTACCTAAAGCCAATGGAAGTGAAGTGACATTTTACCATTATTGGAGTCACGCCATGGTAAAAGGATTAAGCTCCATGCAGACCACAGGGGCCTATGGTCCCCCTAACAGAGTTGCCACATACCAGGTGAAGCAAGCAATGCCTATGGGCACTGCCAAACAGACAAAGAAATGTGTGGAGAGGGAAAAAGAAAGTGAGGAATAAGGATGCAGCCGACAGTATGACTGGGAAGCCACGCTGCAGAGGGGGAAGATGATCAAAGGCAAGCTCCATTTCCCTGGGTGCCCCAAGGTTGCATTTGAAGCCCAAAGAAGGCTAAAGGGCACTGGATATGCAGGTGGGTCAGGCCACCCTCCCTGGCCCACCAATGCAGCCCTTCGGTGTTGGAAAGAGAAGAAAAGCCTCCATCTTGGGCCCTGTGGAGCAGCCACGCTCAAACTGATGGCCCCAGCTCACGTGACAGACAGCGTCCCCCCACAAGGAGGGGTCCAGTGATGTCAGCACCCCAGCCTGGAGCTGCACAAAGCCTGGTCTGTTTCCTCCCTGAAAACAGGGTCTTTGAGAAGCTCTGAGTGACTCTATTATAAATCCAGTATGCCGTGTGGGATTCATGCAGTTCCAGAGTTCCCAATGCACCCGCGCCCCCCCACCGCCCGGCCACCTACATCTAACCTCACTGCTATTTGGGCTGCTGTTTTACTGGACACTGCAACTTTGTTTGAAGACAGTGCAGAAGTGGGAATACGCCACATGAACCACCCTGTTAAGCCTGTCCTCCTGCAACTCAGAGGAGAAAACTGCCACTTGACTGGCCCCTGTCAAGAGAGCCACACAATAGTCTTGGAACCAAAATGGGACAGCATCCAGGACCTGCCACCTACAGGAAGTTCAGAAGACAGCAAAGATGGCCATGTCAGGAGCGAAATCATTGCGGGTTAATTGTTGATTGCAGAAAACAGCAGTTTTGATCTGCTGGGGACACACTTTATTTGCCTTGAGGTCCAGGATCCTTAATTATCTTGCCCCACTCTTCCACGGCTTGCATCTCCAAAGTGCTAACTCTTGTCTTTAAGAAATACTGAAGTTGTCTCTTGGGCTCTGTCTGACTTATCTAATGAAGGCAGGGCTATAAAAAAGGAAACATGACCTTGGCAGAGAGAAAGGTGTTAACAGAGTGCTAGCAGGGCAGGACAACACTTATCATCATGCAGGCAGGGCTCCCAAATGGGCTGTCTAACCAGATCTGGCATGAGAAATGCCTCAGGAGCTGAGTGGACCAGCTACTCCCCGATTTCACTGACTAAGAGGAGATACCAGATTCCATCCTTGAACAAGAGGGATAGAAAGAGGCAGTATAGAGAAGTGCAGCGACTAACTACACAGCTTAATGTGTATGACTTTCATCTTAGTAGAATCTCAGAAGTGAATGACTCTAAGCTTAACCGTGATAAGCAGTAAACTTAGATATCTACAAAGCCAAAGAGAGGATACACACTTTATATGATTGTTGT
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Task1_train_23823
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This alteration in PMP22 (peripheral myelin protein 22) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Charcot-Marie-Tooth disease, type I
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TTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAGACACAACTCAGAAACCCTGAGCTGGGTGACAATGGTGGCCTTTTCTCTCCTTCAGGATGGCATTAGGAGCTTAGTTGGTGCCAACCAATGTTTTATCTGCAAGTGTGGCCTCAAGTCACCATCATTCAGACCTTTCACCATATCATACCTCAGGGTGAGGGATCTGAGATGCTTCTGCCAACATTCCCAGTATATCAGGGCAGCTCATGACATGCCTCCATGTTTTCCATGTGGGTCATCAAACAACAGAGCACCAGAGAGGGTTGAACTAAATGAATACTCAAGTGCCTTCCAGTCCATTTACAGCCTCCATTTCAGCTGCAATTCCCAACTGTCTCCAATTAGCAAACCTTTGCACAGACATCATGAAGGCATCATGTGCTCCCTGTAGCTTGTAAAACAGCTATGATTTTGGTGCCTTAGCACCATCTTGTAACCCAAATCTCCAGCTCAACTTTGCTTTCCACTGAAGCTCTTCATCCTGCTCCAACAGGCACCTTGTACCCACACCCAAGTTCCCACAAAAACTCAAGAGAGACCAGTGAGTTACTCTGATGTTTATTTTAATGCATCTTAGTCCACACAGTTGGTATAAAATCAGAAAATGCAAAGCAAAAACAAAAGGTCTGGAGTCTTAGCATCAGAAGGGCACCATATATACATCTACAGTTGGTGGCCAATACAAGTCATTGCCAGACAGTCCTTGGAGGCACAGAACAGCCTAGACCCAGCCAAGCTCTAGGAACTCACGGTCCCAAGGAGTCTAGACGCTTGTTCTGATGCTCCGACCGTAAGAAAAATGTGGGAGTGATGAAGGCTTTATGATTTACTCATTATAGTAATAATAGCAGCCTAGCTAGGTACAAAAGCAGTTATAAACCATTTATATTACACAGAATTATTCAGGTCTCCATTCTATCTTATGTTGTAAAATTGTTAATTGGATTTCCAGTGAGTTGTTTAGATGATTAGTGATAATAAGGAATGGTAAATCCATAGCACCATTTCAAAGACTTGTTGTCACTGATTTCTCATTTAGATGTGTGACGAAGATACTCCACCTGTAAGGGCAAGTATGCCAATGCCACAAGCCGTGTTTTTGCAAGGGCTCCAGTTTGGGCATTTTGTCCGTGTGCGCGTAAAGCTTCACACAGAGGTTCGGGCAGCGGCTGTTTCTGTTGGATGCACTGGGTCACCCACCAGAAAAGGGCTTTTGGACATTTGGGGTTTCTACCCACACTTTGGTTTTCTAAATGAGGTGGACTGGGAGGGAGGTATCTTCTTTCAGATGAAAGGGAAGGGGCGAGATGGAGTTATCTTATTTCTGGGTAAAACAAAACAAACAAACAAAAAACAAAACAAAAATACTGAGCTGGATTATACTGTTAGGATGTAAAGTTCCTTAGCTACTTCTTTAAGGCTCAACACGAGGCTGATGGTCAACATAAAAAGCAAACAATACTATGTACATATATGTAAAAAGTGTTATAAATAGGTTTTATAAACCGGAGATATTATATACATCTTCAATCAACAGCAACCCCCACCTCCACTGCTTTCTGTTTGGTTTGGTTTGAGTTTGGGATTTTGGGCTAGCTCTTTTTTCTTTGTCTGCTTTCTGTTTTCCCTTCCTCCCTTCCCTATGTACGCTCAGAGCCTCAGACAGACCGTCTGGGCGCCTCATTCGCGTTTCCGCAAGATCACATAGATGACACCGCTGAGAAGGGCCAGGGGGAAGGCCACCCAGGCCAGGATGTAGGCGAAACCGTAGGAGTAATCCGAGTTGAGATGCCACTCCGGGTGCCTCACCGTGTAGATGGCCGCAGCACTCATCACGCACAGACCTGGGGAAGGAGAGGGACAAGCTGGGTGACGGAGAGTCCATGGCAGAGCGGCCCCCTCTCCGCCACCCCGGATGCTGACAATTGCTGGGTAGGAAGAACATTTCTACCTCTGGAAGGAAATCTGCTTCCAGGTCCAGAATTGAAAGGAGGTAGCACAAAAATATGGGAACAAGGAAAACAACTTGCTCTCTATTTCCAATCTTGGCCACCTAGGCCTTAATACCTGAGGGTTTTCTTTACATTTTCTGCCCTATTTCTCTTTCTTTCACTGTCACCAATTCCCAGGCCACACTACATGGCCAGCAGGCATTCAGGCTGCAAGAAAAACCTACCTGTCTCTTTCCAAGGGTGGTTGGGTATGGAAACCCCTGGAAATCTATATGCCACTCTACAAGTGAGTGGTGGCATTACCTAAAGCCAATGGAAGTGAAGTGACATTTTACCATTATTGGAGTCACGCCATGGTAAAAGGATTAAGCTCCATGCAGACCACAGGGGCCTATGGTCCCCCTAACAGAGTTGCCACATACCAGGTGAAGCAAGCAATGCCTATGGGCACTGCCAAACAGACAAAGAAATGTGTGGAGAGGGAAAAAGAAAGTGAGGAATAAGGATGCAGCCGACAGTATGACTGGGAAGCCACGCTGCAGAGGGGGAAGATGATCAAAGGCAAGCTCCATTTCCCTGGGTGCCCCAAGGTTGCATTTGAAGCCCAAAGAAGGCTAAAGGGCACTGGATATGCAGGTGGGTCAGGCCACCCTCCCTGGCCCACCAATGCAGCCCTTCGGTGTTGGAAAGAGAAGAAAAGCCTCCATCTTGGGCCCTGTGGAGCAGCCACGCTCAAACTGATGGCCCCAGCTCACGTGACAGACAGCGTCCCCCCACAAGGAGGGGTCCAGTGATGTCAGCACCCCAGCCTGGAGCTGCACAAAGCCTGGTCTGTTTCCTCCCTGAAAACAGGGTCTTTGAGAAGCTCTGAGTGACTCTATTATAAATCCAGTATGCCGTGTGGGATTCATGCAGTTCCAGAGTTCCCAATGCACCCGCGCCCCCCCACCGCCCGGCCACCTACATCTAACCTCACTGCTATTTGGGCTGCTGTTTTACTGGACACTGCAACTTTGTTTGAAGACAGTGCAGAAGTGGGAATACGCCACATGAACCACCCTGTTAAGCCTGTCCTCCTGCAACTCAGAGGAGAAAACTGCCACTTGACTGGCCCCTGTCAAGAGAGCCACACAATAGTCTTGGAACCAAAATGGGACAGCATCCAGGACCTGCCACCTACAGGAAGTTCAGAAGACAGCAAAGATGGCCATGTCAGGAGCGAAATCATTGCGGGTTAATTGTTGATTGCAGAAAACAGCAGTTTTGATCTGCTGGGGACACACTTTATTTGCCTTGAGGTCCAGGATCCTTAATTATCTTGCCCCACTCTTCCACGGCTTGCATCTCCAAAGTGCTAACTCTTGTCTTTAAGAAATACTGAAGTTGTCTCTTGGGCTCTGTCTGACTTATCTAATGAAGGCAGGGCTATAAAAAAGGAAACATGACCTTGGCAGAGAGAAAGGTGTTAACAGAGTGCTAGCAGGGCAGGACAACACTTATCATCATGCAGGCAGGGCTCCCAAATGGGCTGTCTAACCAGATCTGGCATGAGAAATGCCTCAGGAGCTGAGTGGACCAGCTACTCCCCGATTTCACTGACTAAGAGGAGATACCAGATTCCATCCTTGAACAAGAGGGATAGAAAGAGGCAGTATAGAGAAGTGCAGCGACTAACTACACAGCTTAATGTGTATGACTTTCATCTTAGTAGAATCTCAGAAGTGAATGACTCTAAGCTTAACCGTGATAAGCAGTAAACTTAGATATCTACAAAGCCAAAGAGAGGATACACACTTTATATGATTGTTGT
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TTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAGACACAACTCAGAAACCCTGAGCTGGGTGACAATGGTGGCCTTTTCTCTCCTTCAGGATGGCATTAGGAGCTTAGTTGGTGCCAACCAATGTTTTATCTGCAAGTGTGGCCTCAAGTCACCATCATTCAGACCTTTCACCATATCATACCTCAGGGTGAGGGATCTGAGATGCTTCTGCCAACATTCCCAGTATATCAGGGCAGCTCATGACATGCCTCCATGTTTTCCATGTGGGTCATCAAACAACAGAGCACCAGAGAGGGTTGAACTAAATGAATACTCAAGTGCCTTCCAGTCCATTTACAGCCTCCATTTCAGCTGCAATTCCCAACTGTCTCCAATTAGCAAACCTTTGCACAGACATCATGAAGGCATCATGTGCTCCCTGTAGCTTGTAAAACAGCTATGATTTTGGTGCCTTAGCACCATCTTGTAACCCAAATCTCCAGCTCAACTTTGCTTTCCACTGAAGCTCTTCATCCTGCTCCAACAGGCACCTTGTACCCACACCCAAGTTCCCACAAAAACTCAAGAGAGACCAGTGAGTTACTCTGATGTTTATTTTAATGCATCTTAGTCCACACAGTTGGTATAAAATCAGAAAATGCAAAGCAAAAACAAAAGGTCTGGAGTCTTAGCATCAGAAGGGCACCATATATACATCTACAGTTGGTGGCCAATACAAGTCATTGCCAGACAGTCCTTGGAGGCACAGAACAGCCTAGACCCAGCCAAGCTCTAGGAACTCACGGTCCCAAGGAGTCTAGACGCTTGTTCTGATGCTCCGACCGTAAGAAAAATGTGGGAGTGATGAAGGCTTTATGATTTACTCATTATAGTAATAATAGCAGCCTAGCTAGGTACAAAAGCAGTTATAAACCATTTATATTACACAGAATTATTCAGGTCTCCATTCTATCTTATGTTGTAAAATTGTTAATTGGATTTCCAGTGAGTTGTTTAGATGATTAGTGATAATAAGGAATGGTAAATCCATAGCACCATTTCAAAGACTTGTTGTCACTGATTTCTCATTTAGATGTGTGACGAAGATACTCCACCTGTAAGGGCAAGTATGCCAATGCCACAAGCCGTGTTTTTGCAAGGGCTCCAGTTTGGGCATTTTGTCCGTGTGCGCGTAAAGCTTCACACAGAGGTTCGGGCAGCGGCTGTTTCTGTTGGATGCACTGGGTCACCCACCAGAAAAGGGCTTTTGGACATTTGGGGTTTCTACCCACACTTTGGTTTTCTAAATGAGGTGGACTGGGAGGGAGGTATCTTCTTTCAGATGAAAGGGAAGGGGCGAGATGGAGTTATCTTATTTCTGGGTAAAACAAAACAAACAAACAAAAAACAAAACAAAAATACTGAGCTGGATTATACTGTTAGGATGTAAAGTTCCTTAGCTACTTCTTTAAGGCTCAACACGAGGCTGATGGTCAACATAAAAAGCAAACAATACTATGTACATATATGTAAAAAGTGTTATAAATAGGTTTTATAAACCGGAGATATTATATACATCTTCAATCAACAGCAACCCCCACCTCCACTGCTTTCTGTTTGGTTTGGTTTGAGTTTGGGATTTTGGGCTAGCTCTTTTTTCTTTGTCTGCTTTCTGTTTTCCCTTCCTCCCTTCCCTATGTACGCTCAGAGCCTCAGACAGACCGTCTGGGCGCCTCATTCGCGTTTCCGCAAGATCACATAGATGACATCGCTGAGAAGGGCCAGGGGGAAGGCCACCCAGGCCAGGATGTAGGCGAAACCGTAGGAGTAATCCGAGTTGAGATGCCACTCCGGGTGCCTCACCGTGTAGATGGCCGCAGCACTCATCACGCACAGACCTGGGGAAGGAGAGGGACAAGCTGGGTGACGGAGAGTCCATGGCAGAGCGGCCCCCTCTCCGCCACCCCGGATGCTGACAATTGCTGGGTAGGAAGAACATTTCTACCTCTGGAAGGAAATCTGCTTCCAGGTCCAGAATTGAAAGGAGGTAGCACAAAAATATGGGAACAAGGAAAACAACTTGCTCTCTATTTCCAATCTTGGCCACCTAGGCCTTAATACCTGAGGGTTTTCTTTACATTTTCTGCCCTATTTCTCTTTCTTTCACTGTCACCAATTCCCAGGCCACACTACATGGCCAGCAGGCATTCAGGCTGCAAGAAAAACCTACCTGTCTCTTTCCAAGGGTGGTTGGGTATGGAAACCCCTGGAAATCTATATGCCACTCTACAAGTGAGTGGTGGCATTACCTAAAGCCAATGGAAGTGAAGTGACATTTTACCATTATTGGAGTCACGCCATGGTAAAAGGATTAAGCTCCATGCAGACCACAGGGGCCTATGGTCCCCCTAACAGAGTTGCCACATACCAGGTGAAGCAAGCAATGCCTATGGGCACTGCCAAACAGACAAAGAAATGTGTGGAGAGGGAAAAAGAAAGTGAGGAATAAGGATGCAGCCGACAGTATGACTGGGAAGCCACGCTGCAGAGGGGGAAGATGATCAAAGGCAAGCTCCATTTCCCTGGGTGCCCCAAGGTTGCATTTGAAGCCCAAAGAAGGCTAAAGGGCACTGGATATGCAGGTGGGTCAGGCCACCCTCCCTGGCCCACCAATGCAGCCCTTCGGTGTTGGAAAGAGAAGAAAAGCCTCCATCTTGGGCCCTGTGGAGCAGCCACGCTCAAACTGATGGCCCCAGCTCACGTGACAGACAGCGTCCCCCCACAAGGAGGGGTCCAGTGATGTCAGCACCCCAGCCTGGAGCTGCACAAAGCCTGGTCTGTTTCCTCCCTGAAAACAGGGTCTTTGAGAAGCTCTGAGTGACTCTATTATAAATCCAGTATGCCGTGTGGGATTCATGCAGTTCCAGAGTTCCCAATGCACCCGCGCCCCCCCACCGCCCGGCCACCTACATCTAACCTCACTGCTATTTGGGCTGCTGTTTTACTGGACACTGCAACTTTGTTTGAAGACAGTGCAGAAGTGGGAATACGCCACATGAACCACCCTGTTAAGCCTGTCCTCCTGCAACTCAGAGGAGAAAACTGCCACTTGACTGGCCCCTGTCAAGAGAGCCACACAATAGTCTTGGAACCAAAATGGGACAGCATCCAGGACCTGCCACCTACAGGAAGTTCAGAAGACAGCAAAGATGGCCATGTCAGGAGCGAAATCATTGCGGGTTAATTGTTGATTGCAGAAAACAGCAGTTTTGATCTGCTGGGGACACACTTTATTTGCCTTGAGGTCCAGGATCCTTAATTATCTTGCCCCACTCTTCCACGGCTTGCATCTCCAAAGTGCTAACTCTTGTCTTTAAGAAATACTGAAGTTGTCTCTTGGGCTCTGTCTGACTTATCTAATGAAGGCAGGGCTATAAAAAAGGAAACATGACCTTGGCAGAGAGAAAGGTGTTAACAGAGTGCTAGCAGGGCAGGACAACACTTATCATCATGCAGGCAGGGCTCCCAAATGGGCTGTCTAACCAGATCTGGCATGAGAAATGCCTCAGGAGCTGAGTGGACCAGCTACTCCCCGATTTCACTGACTAAGAGGAGATACCAGATTCCATCCTTGAACAAGAGGGATAGAAAGAGGCAGTATAGAGAAGTGCAGCGACTAACTACACAGCTTAATGTGTATGACTTTCATCTTAGTAGAATCTCAGAAGTGAATGACTCTAAGCTTAACCGTGATAAGCAGTAAACTTAGATATCTACAAAGCCAAAGAGAGGATACACACTTTATATGATTGTTGT
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Task1_train_23824
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Mutation context: Chromosome 17, Gene PMP22 (peripheral myelin protein 22). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Charcot-Marie-Tooth disease, type I
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GGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAGACACAACTCAGAAACCCTGAGCTGGGTGACAATGGTGGCCTTTTCTCTCCTTCAGGATGGCATTAGGAGCTTAGTTGGTGCCAACCAATGTTTTATCTGCAAGTGTGGCCTCAAGTCACCATCATTCAGACCTTTCACCATATCATACCTCAGGGTGAGGGATCTGAGATGCTTCTGCCAACATTCCCAGTATATCAGGGCAGCTCATGACATGCCTCCATGTTTTCCATGTGGGTCATCAAACAACAGAGCACCAGAGAGGGTTGAACTAAATGAATACTCAAGTGCCTTCCAGTCCATTTACAGCCTCCATTTCAGCTGCAATTCCCAACTGTCTCCAATTAGCAAACCTTTGCACAGACATCATGAAGGCATCATGTGCTCCCTGTAGCTTGTAAAACAGCTATGATTTTGGTGCCTTAGCACCATCTTGTAACCCAAATCTCCAGCTCAACTTTGCTTTCCACTGAAGCTCTTCATCCTGCTCCAACAGGCACCTTGTACCCACACCCAAGTTCCCACAAAAACTCAAGAGAGACCAGTGAGTTACTCTGATGTTTATTTTAATGCATCTTAGTCCACACAGTTGGTATAAAATCAGAAAATGCAAAGCAAAAACAAAAGGTCTGGAGTCTTAGCATCAGAAGGGCACCATATATACATCTACAGTTGGTGGCCAATACAAGTCATTGCCAGACAGTCCTTGGAGGCACAGAACAGCCTAGACCCAGCCAAGCTCTAGGAACTCACGGTCCCAAGGAGTCTAGACGCTTGTTCTGATGCTCCGACCGTAAGAAAAATGTGGGAGTGATGAAGGCTTTATGATTTACTCATTATAGTAATAATAGCAGCCTAGCTAGGTACAAAAGCAGTTATAAACCATTTATATTACACAGAATTATTCAGGTCTCCATTCTATCTTATGTTGTAAAATTGTTAATTGGATTTCCAGTGAGTTGTTTAGATGATTAGTGATAATAAGGAATGGTAAATCCATAGCACCATTTCAAAGACTTGTTGTCACTGATTTCTCATTTAGATGTGTGACGAAGATACTCCACCTGTAAGGGCAAGTATGCCAATGCCACAAGCCGTGTTTTTGCAAGGGCTCCAGTTTGGGCATTTTGTCCGTGTGCGCGTAAAGCTTCACACAGAGGTTCGGGCAGCGGCTGTTTCTGTTGGATGCACTGGGTCACCCACCAGAAAAGGGCTTTTGGACATTTGGGGTTTCTACCCACACTTTGGTTTTCTAAATGAGGTGGACTGGGAGGGAGGTATCTTCTTTCAGATGAAAGGGAAGGGGCGAGATGGAGTTATCTTATTTCTGGGTAAAACAAAACAAACAAACAAAAAACAAAACAAAAATACTGAGCTGGATTATACTGTTAGGATGTAAAGTTCCTTAGCTACTTCTTTAAGGCTCAACACGAGGCTGATGGTCAACATAAAAAGCAAACAATACTATGTACATATATGTAAAAAGTGTTATAAATAGGTTTTATAAACCGGAGATATTATATACATCTTCAATCAACAGCAACCCCCACCTCCACTGCTTTCTGTTTGGTTTGGTTTGAGTTTGGGATTTTGGGCTAGCTCTTTTTTCTTTGTCTGCTTTCTGTTTTCCCTTCCTCCCTTCCCTATGTACGCTCAGAGCCTCAGACAGACCGTCTGGGCGCCTCATTCGCGTTTCCGCAAGATCACATAGATGACACCGCTGAGAAGGGCCAGGGGGAAGGCCACCCAGGCCAGGATGTAGGCGAAACCGTAGGAGTAATCCGAGTTGAGATGCCACTCCGGGTGCCTCACCGTGTAGATGGCCGCAGCACTCATCACGCACAGACCTGGGGAAGGAGAGGGACAAGCTGGGTGACGGAGAGTCCATGGCAGAGCGGCCCCCTCTCCGCCACCCCGGATGCTGACAATTGCTGGGTAGGAAGAACATTTCTACCTCTGGAAGGAAATCTGCTTCCAGGTCCAGAATTGAAAGGAGGTAGCACAAAAATATGGGAACAAGGAAAACAACTTGCTCTCTATTTCCAATCTTGGCCACCTAGGCCTTAATACCTGAGGGTTTTCTTTACATTTTCTGCCCTATTTCTCTTTCTTTCACTGTCACCAATTCCCAGGCCACACTACATGGCCAGCAGGCATTCAGGCTGCAAGAAAAACCTACCTGTCTCTTTCCAAGGGTGGTTGGGTATGGAAACCCCTGGAAATCTATATGCCACTCTACAAGTGAGTGGTGGCATTACCTAAAGCCAATGGAAGTGAAGTGACATTTTACCATTATTGGAGTCACGCCATGGTAAAAGGATTAAGCTCCATGCAGACCACAGGGGCCTATGGTCCCCCTAACAGAGTTGCCACATACCAGGTGAAGCAAGCAATGCCTATGGGCACTGCCAAACAGACAAAGAAATGTGTGGAGAGGGAAAAAGAAAGTGAGGAATAAGGATGCAGCCGACAGTATGACTGGGAAGCCACGCTGCAGAGGGGGAAGATGATCAAAGGCAAGCTCCATTTCCCTGGGTGCCCCAAGGTTGCATTTGAAGCCCAAAGAAGGCTAAAGGGCACTGGATATGCAGGTGGGTCAGGCCACCCTCCCTGGCCCACCAATGCAGCCCTTCGGTGTTGGAAAGAGAAGAAAAGCCTCCATCTTGGGCCCTGTGGAGCAGCCACGCTCAAACTGATGGCCCCAGCTCACGTGACAGACAGCGTCCCCCCACAAGGAGGGGTCCAGTGATGTCAGCACCCCAGCCTGGAGCTGCACAAAGCCTGGTCTGTTTCCTCCCTGAAAACAGGGTCTTTGAGAAGCTCTGAGTGACTCTATTATAAATCCAGTATGCCGTGTGGGATTCATGCAGTTCCAGAGTTCCCAATGCACCCGCGCCCCCCCACCGCCCGGCCACCTACATCTAACCTCACTGCTATTTGGGCTGCTGTTTTACTGGACACTGCAACTTTGTTTGAAGACAGTGCAGAAGTGGGAATACGCCACATGAACCACCCTGTTAAGCCTGTCCTCCTGCAACTCAGAGGAGAAAACTGCCACTTGACTGGCCCCTGTCAAGAGAGCCACACAATAGTCTTGGAACCAAAATGGGACAGCATCCAGGACCTGCCACCTACAGGAAGTTCAGAAGACAGCAAAGATGGCCATGTCAGGAGCGAAATCATTGCGGGTTAATTGTTGATTGCAGAAAACAGCAGTTTTGATCTGCTGGGGACACACTTTATTTGCCTTGAGGTCCAGGATCCTTAATTATCTTGCCCCACTCTTCCACGGCTTGCATCTCCAAAGTGCTAACTCTTGTCTTTAAGAAATACTGAAGTTGTCTCTTGGGCTCTGTCTGACTTATCTAATGAAGGCAGGGCTATAAAAAAGGAAACATGACCTTGGCAGAGAGAAAGGTGTTAACAGAGTGCTAGCAGGGCAGGACAACACTTATCATCATGCAGGCAGGGCTCCCAAATGGGCTGTCTAACCAGATCTGGCATGAGAAATGCCTCAGGAGCTGAGTGGACCAGCTACTCCCCGATTTCACTGACTAAGAGGAGATACCAGATTCCATCCTTGAACAAGAGGGATAGAAAGAGGCAGTATAGAGAAGTGCAGCGACTAACTACACAGCTTAATGTGTATGACTTTCATCTTAGTAGAATCTCAGAAGTGAATGACTCTAAGCTTAACCGTGATAAGCAGTAAACTTAGATATCTACAAAGCCAAAGAGAGGATACACACTTTATATGATTGTTGTCA
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GGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAGACACAACTCAGAAACCCTGAGCTGGGTGACAATGGTGGCCTTTTCTCTCCTTCAGGATGGCATTAGGAGCTTAGTTGGTGCCAACCAATGTTTTATCTGCAAGTGTGGCCTCAAGTCACCATCATTCAGACCTTTCACCATATCATACCTCAGGGTGAGGGATCTGAGATGCTTCTGCCAACATTCCCAGTATATCAGGGCAGCTCATGACATGCCTCCATGTTTTCCATGTGGGTCATCAAACAACAGAGCACCAGAGAGGGTTGAACTAAATGAATACTCAAGTGCCTTCCAGTCCATTTACAGCCTCCATTTCAGCTGCAATTCCCAACTGTCTCCAATTAGCAAACCTTTGCACAGACATCATGAAGGCATCATGTGCTCCCTGTAGCTTGTAAAACAGCTATGATTTTGGTGCCTTAGCACCATCTTGTAACCCAAATCTCCAGCTCAACTTTGCTTTCCACTGAAGCTCTTCATCCTGCTCCAACAGGCACCTTGTACCCACACCCAAGTTCCCACAAAAACTCAAGAGAGACCAGTGAGTTACTCTGATGTTTATTTTAATGCATCTTAGTCCACACAGTTGGTATAAAATCAGAAAATGCAAAGCAAAAACAAAAGGTCTGGAGTCTTAGCATCAGAAGGGCACCATATATACATCTACAGTTGGTGGCCAATACAAGTCATTGCCAGACAGTCCTTGGAGGCACAGAACAGCCTAGACCCAGCCAAGCTCTAGGAACTCACGGTCCCAAGGAGTCTAGACGCTTGTTCTGATGCTCCGACCGTAAGAAAAATGTGGGAGTGATGAAGGCTTTATGATTTACTCATTATAGTAATAATAGCAGCCTAGCTAGGTACAAAAGCAGTTATAAACCATTTATATTACACAGAATTATTCAGGTCTCCATTCTATCTTATGTTGTAAAATTGTTAATTGGATTTCCAGTGAGTTGTTTAGATGATTAGTGATAATAAGGAATGGTAAATCCATAGCACCATTTCAAAGACTTGTTGTCACTGATTTCTCATTTAGATGTGTGACGAAGATACTCCACCTGTAAGGGCAAGTATGCCAATGCCACAAGCCGTGTTTTTGCAAGGGCTCCAGTTTGGGCATTTTGTCCGTGTGCGCGTAAAGCTTCACACAGAGGTTCGGGCAGCGGCTGTTTCTGTTGGATGCACTGGGTCACCCACCAGAAAAGGGCTTTTGGACATTTGGGGTTTCTACCCACACTTTGGTTTTCTAAATGAGGTGGACTGGGAGGGAGGTATCTTCTTTCAGATGAAAGGGAAGGGGCGAGATGGAGTTATCTTATTTCTGGGTAAAACAAAACAAACAAACAAAAAACAAAACAAAAATACTGAGCTGGATTATACTGTTAGGATGTAAAGTTCCTTAGCTACTTCTTTAAGGCTCAACACGAGGCTGATGGTCAACATAAAAAGCAAACAATACTATGTACATATATGTAAAAAGTGTTATAAATAGGTTTTATAAACCGGAGATATTATATACATCTTCAATCAACAGCAACCCCCACCTCCACTGCTTTCTGTTTGGTTTGGTTTGAGTTTGGGATTTTGGGCTAGCTCTTTTTTCTTTGTCTGCTTTCTGTTTTCCCTTCCTCCCTTCCCTATGTACGCTCAGAGCCTCAGACAGACCGTCTGGGCGCCTCATTCGCGTTTCCGCAAGATCACATAGATGACACCTCTGAGAAGGGCCAGGGGGAAGGCCACCCAGGCCAGGATGTAGGCGAAACCGTAGGAGTAATCCGAGTTGAGATGCCACTCCGGGTGCCTCACCGTGTAGATGGCCGCAGCACTCATCACGCACAGACCTGGGGAAGGAGAGGGACAAGCTGGGTGACGGAGAGTCCATGGCAGAGCGGCCCCCTCTCCGCCACCCCGGATGCTGACAATTGCTGGGTAGGAAGAACATTTCTACCTCTGGAAGGAAATCTGCTTCCAGGTCCAGAATTGAAAGGAGGTAGCACAAAAATATGGGAACAAGGAAAACAACTTGCTCTCTATTTCCAATCTTGGCCACCTAGGCCTTAATACCTGAGGGTTTTCTTTACATTTTCTGCCCTATTTCTCTTTCTTTCACTGTCACCAATTCCCAGGCCACACTACATGGCCAGCAGGCATTCAGGCTGCAAGAAAAACCTACCTGTCTCTTTCCAAGGGTGGTTGGGTATGGAAACCCCTGGAAATCTATATGCCACTCTACAAGTGAGTGGTGGCATTACCTAAAGCCAATGGAAGTGAAGTGACATTTTACCATTATTGGAGTCACGCCATGGTAAAAGGATTAAGCTCCATGCAGACCACAGGGGCCTATGGTCCCCCTAACAGAGTTGCCACATACCAGGTGAAGCAAGCAATGCCTATGGGCACTGCCAAACAGACAAAGAAATGTGTGGAGAGGGAAAAAGAAAGTGAGGAATAAGGATGCAGCCGACAGTATGACTGGGAAGCCACGCTGCAGAGGGGGAAGATGATCAAAGGCAAGCTCCATTTCCCTGGGTGCCCCAAGGTTGCATTTGAAGCCCAAAGAAGGCTAAAGGGCACTGGATATGCAGGTGGGTCAGGCCACCCTCCCTGGCCCACCAATGCAGCCCTTCGGTGTTGGAAAGAGAAGAAAAGCCTCCATCTTGGGCCCTGTGGAGCAGCCACGCTCAAACTGATGGCCCCAGCTCACGTGACAGACAGCGTCCCCCCACAAGGAGGGGTCCAGTGATGTCAGCACCCCAGCCTGGAGCTGCACAAAGCCTGGTCTGTTTCCTCCCTGAAAACAGGGTCTTTGAGAAGCTCTGAGTGACTCTATTATAAATCCAGTATGCCGTGTGGGATTCATGCAGTTCCAGAGTTCCCAATGCACCCGCGCCCCCCCACCGCCCGGCCACCTACATCTAACCTCACTGCTATTTGGGCTGCTGTTTTACTGGACACTGCAACTTTGTTTGAAGACAGTGCAGAAGTGGGAATACGCCACATGAACCACCCTGTTAAGCCTGTCCTCCTGCAACTCAGAGGAGAAAACTGCCACTTGACTGGCCCCTGTCAAGAGAGCCACACAATAGTCTTGGAACCAAAATGGGACAGCATCCAGGACCTGCCACCTACAGGAAGTTCAGAAGACAGCAAAGATGGCCATGTCAGGAGCGAAATCATTGCGGGTTAATTGTTGATTGCAGAAAACAGCAGTTTTGATCTGCTGGGGACACACTTTATTTGCCTTGAGGTCCAGGATCCTTAATTATCTTGCCCCACTCTTCCACGGCTTGCATCTCCAAAGTGCTAACTCTTGTCTTTAAGAAATACTGAAGTTGTCTCTTGGGCTCTGTCTGACTTATCTAATGAAGGCAGGGCTATAAAAAAGGAAACATGACCTTGGCAGAGAGAAAGGTGTTAACAGAGTGCTAGCAGGGCAGGACAACACTTATCATCATGCAGGCAGGGCTCCCAAATGGGCTGTCTAACCAGATCTGGCATGAGAAATGCCTCAGGAGCTGAGTGGACCAGCTACTCCCCGATTTCACTGACTAAGAGGAGATACCAGATTCCATCCTTGAACAAGAGGGATAGAAAGAGGCAGTATAGAGAAGTGCAGCGACTAACTACACAGCTTAATGTGTATGACTTTCATCTTAGTAGAATCTCAGAAGTGAATGACTCTAAGCTTAACCGTGATAAGCAGTAAACTTAGATATCTACAAAGCCAAAGAGAGGATACACACTTTATATGATTGTTGTCA
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Task1_train_23825
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Given this context: Chromosome 17, gene PMP22 (peripheral myelin protein 22) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Dejerine-Sottas disease
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TTCAATGTGACTGGGTCTTATAGTACAGGCTTGTATTCATCACAGATGTTTGGAACTTCAGAATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGT
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TTCAATGTGACTGGGTCTTATAGTACAGGCTTGTATTCATCACAGATGTTTGGAACTTCAGAATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCTAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGT
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Task1_train_23826
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A variant on Chromosome 17 in gene PMP22 (peripheral myelin protein 22) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Charcot-Marie-Tooth disease, type I
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ATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATAC
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ATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAAACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATAC
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Task1_train_23827
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A variant was discovered in gene PMP22 (peripheral myelin protein 22), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Charcot-Marie-Tooth disease, type I
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ATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATAC
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ATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGACACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATAC
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Task1_train_23828
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This variant lies on Chromosome 17 and affects the gene PMP22 (peripheral myelin protein 22). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Inborn genetic diseases
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CATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTA
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CATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCAACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTA
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Task1_train_23829
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This alteration in PMP22 (peripheral myelin protein 22) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Charcot-Marie-Tooth disease, type IA
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CATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTA
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CATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCAACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTA
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Task1_train_23830
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This variant affects the gene PMP22 (peripheral myelin protein 22) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Charcot-Marie-Tooth disease, type I
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CATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTA
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CATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCAACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTA
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Task1_train_23831
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The gene PMP22 (peripheral myelin protein 22) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Charcot-Marie-Tooth disease, type I
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ATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTAT
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ATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGGCAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTAT
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Task1_train_23832
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This variant affects the gene PMP22 (peripheral myelin protein 22) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Charcot-Marie-Tooth disease, type I
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TCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTATATGTTAAA
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TCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCTTGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTATATGTTAAA
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Task1_train_23833
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The gene PMP22 (peripheral myelin protein 22) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Charcot-Marie-Tooth disease, type IA
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TCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCATGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTATATGTTAAA
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TCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAACCCAATCATCGCTTATGAAACTAACATTTCAATAGAAATACATTATGAAAGTTCTGGTTCTAAATCCATATTATCTTGAGGGCATATCCACTGATGCAATGGATATGATCATTATTTGATTTGATATCAAACTAAAACGAGTGAGAAAAAAAAAAAGAAACCCCAGAATATGTTACAGTTGTTTTTATTCCAACTGAAAATTGAGTAAGGGTAACTCTTCACTTTAACGTACCTAGAAATGATATCTCCTTGCATAATTAGTCATTTAACAGAGCCAGCAACCATCCAGGAGCTTGGCTTGGTGTCATAAGACATGTGTAAGTAGCAAAGCACTGTCTGGTTTTGAAATCTCAAAACCATGAGTATTGAAATGTTGTATTTGAGTGTTTAATGAGAAGTGGTTAATCATTTACTTCCTTTTTTCAGGAAAGGGGAACTCTCTGTCTTCTAGACAAGGTCACCAACATCTAACCTTGGGCTGTGTCTTCCCATACAACCCTATTTACGTCAACCTTCCAATGACTGCTCCTGGGGACAGAGTGGTGAAATGGTACCATGGGCATTCTGACAACCAACTCAGAGAAGAGATGCTACATCCTTTGCCCTCTCAGAGGGTCAGAATTGAGAACATCTCCCAGTACCTAGACATACTCTGGTACATATGAAGTTTGTGATCTATGAATTTGGACCACAGAATCCACCACTACATCTAGCTCTTACTTCTCTCCAATGCCCTGCTGGTTCAGTCAACAGTAAGTCAACAGACAGACATGTAAGAGCTAATGTAAGATGCTAGGCAGAATGCAAGATGTAAGATGTAAGATGTAAGATGTAAGCATGTAAGATGCTAGGCAGAATCCAGAGACAAAGTTGGAAGATGTCACCCTGTGTAACAGAAGTTTCTAGGACTCTGCACACTATGCATATTAATAACGTATTTAAAGAGGGAACTTGAAGACAGTTTAGGCAGGAGATTAAGGAGACCTCTCATGTGTTTTCATGTGTTGTCATAGCCCCATGTTTGGAAATGACAATATGTGACACAAGAGTGTCAAAATGAAGACACCAGAGGATGACAACAGTCAATCAAAGCCCAGTAGAATCTAGGAACTGGAAGCAAGGAAGGTGAGAATTTGTCAGTGTGGCTTCATCACTACCTATTGGTGGAAGACACATACCTGATAACTACTTTGCTAGTTCTTAGCACATCAGGGCCATTTTCTGGAGGCATAATGTAATCTACAGAAACAGCTCTCAAGCCTGACCTTTGCTCTACAGATAGCCTCAGTATTCACCTCTGATTATGTGTCCAGATTGCAGTTTCATTCCTGTTGATACGCCTGGCTTGGGTGGGGACCTTCCTTCCAGATCCTCTAAGTTCTCTTTCATATGCATCTCATTCCAGGGAGAAGGGGAGAGTTCTAAGTCCCAAGTTCTAAGACACATACAGGTACACACCCACACATACAAGCACCCACCCTCACTTTATGGAAAGCATCCAGTGGGGAGACTCATGAACATCAGTCATTCTGAGGCCACATCCTTCTACTAAACTAATCATTCCGCAGACTTGGATGCACCCCGCTTCCACATGGACTTTACCATCCACAACTTACCAGCAAGAATTTGGAAGATTCCAGTGATGTAAAACCTGCCCCCCTTGGTGAGGGTGAAGAGTTGGCAGAAGAACAGGAACAGAGACAGAATGCTGAAGATGATCGACAGGATCTTGGTGGCCTGGACAGACTGCAGCCATTCTGGGGGAAAGAGACACTTGGTTAGGAGAGCTGGCCATGGCCGGGGGAGGGCTCTGCCTCGAGGTGCAGGGCCTGAAGGGCCATGACTGCTGACAGCACAGTCCTCACAGGCAGCAGAAGCAGAAGTCCTTTTTCCTTAGCAGAACTCAGACAATTCACTTTTGCAATCTAAGAAGACATTCTTTATTGTTTATTTTGGAGGAAAAAATATATACATATATACATACATCTATATGTACTGATATATACATATACAAACACACACATGTGCCAATATGTACACATTACATACATATATACCTATATGTACAAATATGCATACAAATATGTACGTGTTTCTATATATATGTGTATATACACATATACAAATACGTGACACACACATATATATAAAAAACACATGTGAACATTCAGGGAAGGGCTGTAAAAAAATATCTATAGTTCCATCACTAGGAGTTAAAGTCATTTTAAAATATATTGAATTTCCTTCCAGTGTTGGTGCAAATGTGTTACTTATGTACATGTGTCTGTGTTAAAGAGGGCCTGAGCCCTGCCTACTACCTTCCCTCTTCTTGCCCTCAGGGGTCTTTGAAGGGCTTATCAGAACTTCTGTATTCCAAGAAAAATAGCTTAAAACCACTATTCAAATTATCTGCATTCCCCAAGGAGAGGTAAAGATCACGGGAATGGCTGTTAGAGCCCAAAGTAATTTTTTGGAAGAATGGAAGAAAATACTGATGAAGAAAGGTATGCTCTCTATAGGTATGGAAATCAATTTGCTTGGACAACCCGTATTTTTTTTTTTTTTTTTTTTTGGTCAACTCTGATCATGGCCATTAGCCTCAGCACAGAGCGGTGTGTGATCGCCAACCACCAGACGGGATGAAGGCTTACACTTCCTTATCTCTGTTGAACCCCAAATCTCCAAGCTTCCAACTGAAATTCAGGCAAGAAGACAGAGCCTCCTATGGTTTCTTCAGTTCACCATCCGCTGCAAACTCATGTCATTTCAGGGAGGAAAGAAGAAACAACCTGAGTTCCACACTGTAGAGGGAAGCCCAGGGTAAAAATCTGCATTTGGCCTCTGTCTTGTCTTCCAAGTGCCACAGAATGCTGGGGGCAGGCACTGCTCTCATGGAGGAAGGGCAACTGGGGAAGCTGCAGCATTTAATCCTTTCAGCTCAGTAACTGCCATATGTAATGGCTTCAAAAGCATACCTTCAATGCTTCACCCAGTACTCACAGCTCTGAAATCTGGATGGTTTATAATTAGTAACTGAGTAAGATAAACTTGTTTTGAGTTGTAAGCAGCTCATGGCAGAATTTTAAGGGTGCAAATTAGGTTAACTGTTCCTAGATTTTCACCTAAGATGTTTCCAAGGCACAGACTGGAGATATTTTAGAGTTGGAAGAAACCTGAGAGATCAACTAGTCCAGCTCCTTTGCACTGAAAGAGATTTCCAGAGGTGTTTTCATGAGCCCAAATGACACAGCCAAATCTAAGAGGCCTTTGATTCTAGTCTAGCACTCTTCACATTCAAGCACAACATATGCTTCTTTCATTTTTTCAATTTCTTTGTCAATTAAAGTAAGAAAATGACGGCTAATGGGTTGTGAGCCATCCTGATTTCACTCTTACATAACCTTAATCAAATGTTTGTCTTTATCCAGCATAGAGGTTCTTCTGGAGGAGCACTTTGCAATAAAGATAATGTTCTCATAATATTGTTTGCTTAAAATAAAAAAATTATCTAGCACTTTGGTAGATGCAGCTGGAATTACAAAGAAATCTGAGACTCAAATCTGAAACTAAAACAAATAAAGGGATTCACTTTGGCTGGGAAATGTCCTTCCATGTGCATGTTCATGAGGAGTATGGCTGGTGGAGACAATATCTTAGATTTCCTTCTCCAATCCTGAGATACTGTCTTCACCCTTAACCCCGCGCCCCTGTCATTTTCAGCAGAAACTACTACGAGACCTCACATACACAGAAAACTTAAAATCTTTATATGTTAAA
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Task1_train_23834
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A variant was discovered on Chromosome 17, affecting PMP22 (peripheral myelin protein 22). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths
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GGAGGCATTGTAAATGAACTCAAGAACATGAGCTTGGCACAGAAGGAACAAGTTGAGAGATAAGAAGTTTCCTGATTAAAATAACCCTAGTGCCTCTTTGAGATCTGCTTCTAGCACCAACTGACAGCTATTTCCAACGGCAGAAGACACCAAATGTCAATCTGTAACATGCTACAGGTCAATATTGCTTTCTTTCCTGCAGATGGTTTAAGCACAACTTAGCAACTCCTCTGCCGCCTCGTTTCTGCTGAAACTTCGCCGGGTTTTAACACGCCTGCCAAAACTGCCCCCTTCCGGGCCCAAGAGTCCAGGATTCTGTGCCAAGCCGCGTGGCCAGATGCCACTTGGGGATGGCGCCTGTGAGCACCAAAGCCTGCCCTTTTCGGGCTGAGTCACTACTTGTAACCACCAGGTGTCAGTAGCGAGTACGGAGACTCCCATCCGGAGTGCTCCGGGAACTTCAGCCAGACCCTAAAGGGGGAGAAACCGGATGCTGTGGCTTTGGGGACAAGCAGTGCTACGGTCACATTCTCAGGCACTCATGAGTATTTCATTTACTCAGTTGCCAACTCACCATGCAAACCCACCACGTAATTTCTGGGATGGCTTTAATTCAATGCCTTTCACACACTCAGAGACAAGATTAAGCACTGTTCTCACTCCAATAGGACTGGGACCTTTTCTCTGCTCCCTCCCCAACCCAGAAGGTAAAAACATAAAGCAGGGTTTTCTACTCCTTGCGTATCTTCTCCATGTAAATTACCAAATTATTATTTTAGCAGTTTCTATTTGTACTGTGGTTCAAGGAATTTGGTTTATAATGCTTCAGCTGGGGACATGCTTGGGTATTACTGGGTACTGAGCTGTAAGAGGGAAAGTCCAGCAAAGCAACTGGATTATGCAAAGCCAGGACCAAAGGCCACTTCACTGCCTGTTTTACTGAACTGGATCTAAACTGGTTTCTCTCGTCTGGTGTAGCATCTTGAACATATATACTGGATCTATGAGTAGCTCCAGCAACATTTAAAGCTGTATTTCCGTGGCCTTTTAAACCCAGGATGTTAGGAAAGCTCTGCTGTATCTCTAGGTCCTTCCAGCCTGAGGACACATCTTCTGGAACAAAAGATCATGTGGATCCAGGTCCACGGGCTCTTAACATCAATCGCTATGGCCTACCCAGCCACCAAAACAGCTCATCCTGTTTACCTCCACCTGTCTGCATCCAAACACACAGGGCTCCTGGCTGGGTGTTCCTTTCCCTCTGGGTGCCTTGGGTACCTAGTTGGTGCTTCTGCTGCCAATTATCCCTTAATTTGACCCTCATGAAGCCTGGCTTCCATATCTCACAAGCAAAGATGCTGAGGACAGAGGAGAAATACGATCTTCTGGATTAAGGACCCCAAGGCTTAGCTTAGGGTTTTGCAAATAGCTTCAAGTCCCCATCTTGCAACAAGGAAACATTCAAAGGTTTTGATGCTAGGTGGCATCACTGAGGCCCAAGACCTGGAAAGGCAGCCAGTCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGATCAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGGAGACGAACAGCAGCACCAGCACCGCGACGTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGG
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GGAGGCATTGTAAATGAACTCAAGAACATGAGCTTGGCACAGAAGGAACAAGTTGAGAGATAAGAAGTTTCCTGATTAAAATAACCCTAGTGCCTCTTTGAGATCTGCTTCTAGCACCAACTGACAGCTATTTCCAACGGCAGAAGACACCAAATGTCAATCTGTAACATGCTACAGGTCAATATTGCTTTCTTTCCTGCAGATGGTTTAAGCACAACTTAGCAACTCCTCTGCCGCCTCGTTTCTGCTGAAACTTCGCCGGGTTTTAACACGCCTGCCAAAACTGCCCCCTTCCGGGCCCAAGAGTCCAGGATTCTGTGCCAAGCCGCGTGGCCAGATGCCACTTGGGGATGGCGCCTGTGAGCACCAAAGCCTGCCCTTTTCGGGCTGAGTCACTACTTGTAACCACCAGGTGTCAGTAGCGAGTACGGAGACTCCCATCCGGAGTGCTCCGGGAACTTCAGCCAGACCCTAAAGGGGGAGAAACCGGATGCTGTGGCTTTGGGGACAAGCAGTGCTACGGTCACATTCTCAGGCACTCATGAGTATTTCATTTACTCAGTTGCCAACTCACCATGCAAACCCACCACGTAATTTCTGGGATGGCTTTAATTCAATGCCTTTCACACACTCAGAGACAAGATTAAGCACTGTTCTCACTCCAATAGGACTGGGACCTTTTCTCTGCTCCCTCCCCAACCCAGAAGGTAAAAACATAAAGCAGGGTTTTCTACTCCTTGCGTATCTTCTCCATGTAAATTACCAAATTATTATTTTAGCAGTTTCTATTTGTACTGTGGTTCAAGGAATTTGGTTTATAATGCTTCAGCTGGGGACATGCTTGGGTATTACTGGGTACTGAGCTGTAAGAGGGAAAGTCCAGCAAAGCAACTGGATTATGCAAAGCCAGGACCAAAGGCCACTTCACTGCCTGTTTTACTGAACTGGATCTAAACTGGTTTCTCTCGTCTGGTGTAGCATCTTGAACATATATACTGGATCTATGAGTAGCTCCAGCAACATTTAAAGCTGTATTTCCGTGGCCTTTTAAACCCAGGATGTTAGGAAAGCTCTGCTGTATCTCTAGGTCCTTCCAGCCTGAGGACACATCTTCTGGAACAAAAGATCATGTGGATCCAGGTCCACGGGCTCTTAACATCAATCGCTATGGCCTACCCAGCCACCAAAACAGCTCATCCTGTTTACCTCCACCTGTCTGCATCCAAACACACAGGGCTCCTGGCTGGGTGTTCCTTTCCCTCTGGGTGCCTTGGGTACCTAGTTGGTGCTTCTGCTGCCAATTATCCCTTAATTTGACCCTCATGAAGCCTGGCTTCCATATCTCACAAGCAAAGATGCTGAGGACAGAGGAGAAATACGATCTTCTGGATTAAGGACCCCAAGGCTTAGCTTAGGGTTTTGCAAATAGCTTCAAGTCCCCATCTTGCAACAAGGAAACATTCAAAGGTTTTGATGCTAGGTGGCATCACTGAGGCCCAAGACCTGGAAAGGCAGCCAGTCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGAACAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGGAGACGAACAGCAGCACCAGCACCGCGACGTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGG
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Task1_train_23835
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This variant lies on Chromosome 17 and affects the gene PMP22 (peripheral myelin protein 22). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Hereditary liability to pressure palsies
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ACCTGGAAAGGCAGCCAGTCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGATCAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGGAGACGAACAGCAGCACCAGCACCGCGACGTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGGAGTAGGTGCCCAGATTTCCGTCTGAGACCTGGAGACAGCCGTGGCATGCGGTGGGGGAGACAGCGGCGAGGAGGCTGGTTTCCCAGACCCCAGTGCTCTCCGCATTCCGTTTGTCTCCAAGTTTCCACCCAACTCTGCCAGCGTAGAGGAACGGTCCTGGCCCCAGCTCAGCCTCGCGCAGACTCTGGCGGCTCCGGAGAGGTGGTGCAGAGCCAGAGTAGTGTGGAAAGAAAAGAATGGCTCGAGAGGGTTGCCCGGACCCTGCGCTTCCCGTCCACCGCGCGCTTCCCCAGGCAGCCCCTGGGGTCAGGGGGCATTCTGCTCTTGCGCTAGACCCACGTGCTCGCCTAGGGGTCCAGTCTGCACCCCAGGCACTCAAAGCCAGGACACGAACCCCAACAAGCCTGAGCTCCGGTCTGGGTGCGGTGGGACAGGAGCCCAGGAGCCTGGACCGAAGGGAGTAGATGTCCAGCGGACGGGAGAGAGAGACAGAGGGTAAAAGGCTGAGTCCGAGAATTTCAGCCGGTCAGAGCCGGCAGGACATTTATCCCAAGTAATGCGGTCCTCGCCCCTCATTTTAAACTTTGGGGGAACTGAAGGCTGGGATGACCTGTTAGAGGACATGCATGGCTGTGAAAGATCTGGCTGAGACTCTGGGGACCATTTTAGGCAGAGTCTTGGGCCAGGGAGACAACGTTTCAATAACCCAGTTTGGAAAGTACCCAATCCCAGGCCCCTCTGTTCCTCTCCACAAGCATCACATTCAAAGAAACTCTGGAATGCACTGGAAGAAATAAACAAGGATTTCTGATGACTCCCAGAGGGTTTGAATTAAGCCGATGGCAGGAGGCTGGGAACTGGGGAACCACAGGAGTCCAACACTCTCGGGATGTCCGCCACAGGGACTGTTTTGCCAGTGTGTCCCAGAGTCAACGCCTCTTCAGCAAGGCGAGAACTGGGCCGCCCTTATCCGCTATCCAGACACCAGCACCATCACCCTTGCCCTGTAAGGTCTTATAGACCATAAAGGCTCTCCTCGTTGTATTACTCCAAGACCCATTGGAGGGAAACAGGACACACAGGGGACCCTGTGCCCCTAAACAGAAGCCCCAGGGAGCTGGCCAAAGCCCCGCGCCTGCGCTGCGCTTTCTGGCACCCTCACTGGAAGATGCCCACATTTCTCCTCCATCTCCTTCACTCTCCCCACCAAATCACTTACAGCCCAAAGGAACAGCTGTCCCGATCCTCAGGGTGGCCTCAAACACAAACTCGGGTGCGTTGGCTCCGCTGCTGGCGCCGCCAAAGCTGCGCTGCGGGGCTGCGCGCGCGCGAAGCAAGGGGGCAGTGGGAGGCTCCTGGCGTTCCCCTTTAACGGGAACAACGCCCTGTTTGCGTCGCTGCAGTAGGGTGTGTCCCTGGGTCAGCGTGTGCGGGAGGGCGGGACTCAGGGAGGAGAGGGGGCAGGAGAGAGGGAGGGCAGGAGACAGTCACTTGGCCTTAA
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ACCTGGAAAGGCAGCCAGTCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGATCAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGAAGACGAACAGCAGCACCAGCACCGCGACGTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGGAGTAGGTGCCCAGATTTCCGTCTGAGACCTGGAGACAGCCGTGGCATGCGGTGGGGGAGACAGCGGCGAGGAGGCTGGTTTCCCAGACCCCAGTGCTCTCCGCATTCCGTTTGTCTCCAAGTTTCCACCCAACTCTGCCAGCGTAGAGGAACGGTCCTGGCCCCAGCTCAGCCTCGCGCAGACTCTGGCGGCTCCGGAGAGGTGGTGCAGAGCCAGAGTAGTGTGGAAAGAAAAGAATGGCTCGAGAGGGTTGCCCGGACCCTGCGCTTCCCGTCCACCGCGCGCTTCCCCAGGCAGCCCCTGGGGTCAGGGGGCATTCTGCTCTTGCGCTAGACCCACGTGCTCGCCTAGGGGTCCAGTCTGCACCCCAGGCACTCAAAGCCAGGACACGAACCCCAACAAGCCTGAGCTCCGGTCTGGGTGCGGTGGGACAGGAGCCCAGGAGCCTGGACCGAAGGGAGTAGATGTCCAGCGGACGGGAGAGAGAGACAGAGGGTAAAAGGCTGAGTCCGAGAATTTCAGCCGGTCAGAGCCGGCAGGACATTTATCCCAAGTAATGCGGTCCTCGCCCCTCATTTTAAACTTTGGGGGAACTGAAGGCTGGGATGACCTGTTAGAGGACATGCATGGCTGTGAAAGATCTGGCTGAGACTCTGGGGACCATTTTAGGCAGAGTCTTGGGCCAGGGAGACAACGTTTCAATAACCCAGTTTGGAAAGTACCCAATCCCAGGCCCCTCTGTTCCTCTCCACAAGCATCACATTCAAAGAAACTCTGGAATGCACTGGAAGAAATAAACAAGGATTTCTGATGACTCCCAGAGGGTTTGAATTAAGCCGATGGCAGGAGGCTGGGAACTGGGGAACCACAGGAGTCCAACACTCTCGGGATGTCCGCCACAGGGACTGTTTTGCCAGTGTGTCCCAGAGTCAACGCCTCTTCAGCAAGGCGAGAACTGGGCCGCCCTTATCCGCTATCCAGACACCAGCACCATCACCCTTGCCCTGTAAGGTCTTATAGACCATAAAGGCTCTCCTCGTTGTATTACTCCAAGACCCATTGGAGGGAAACAGGACACACAGGGGACCCTGTGCCCCTAAACAGAAGCCCCAGGGAGCTGGCCAAAGCCCCGCGCCTGCGCTGCGCTTTCTGGCACCCTCACTGGAAGATGCCCACATTTCTCCTCCATCTCCTTCACTCTCCCCACCAAATCACTTACAGCCCAAAGGAACAGCTGTCCCGATCCTCAGGGTGGCCTCAAACACAAACTCGGGTGCGTTGGCTCCGCTGCTGGCGCCGCCAAAGCTGCGCTGCGGGGCTGCGCGCGCGCGAAGCAAGGGGGCAGTGGGAGGCTCCTGGCGTTCCCCTTTAACGGGAACAACGCCCTGTTTGCGTCGCTGCAGTAGGGTGTGTCCCTGGGTCAGCGTGTGCGGGAGGGCGGGACTCAGGGAGGAGAGGGGGCAGGAGAGAGGGAGGGCAGGAGACAGTCACTTGGCCTTAA
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Task1_train_23836
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An alteration has been detected in PMP22 (peripheral myelin protein 22) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Charcot-Marie-Tooth disease, type IA
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ACCTGGAAAGGCAGCCAGTCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGATCAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGGAGACGAACAGCAGCACCAGCACCGCGACGTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGGAGTAGGTGCCCAGATTTCCGTCTGAGACCTGGAGACAGCCGTGGCATGCGGTGGGGGAGACAGCGGCGAGGAGGCTGGTTTCCCAGACCCCAGTGCTCTCCGCATTCCGTTTGTCTCCAAGTTTCCACCCAACTCTGCCAGCGTAGAGGAACGGTCCTGGCCCCAGCTCAGCCTCGCGCAGACTCTGGCGGCTCCGGAGAGGTGGTGCAGAGCCAGAGTAGTGTGGAAAGAAAAGAATGGCTCGAGAGGGTTGCCCGGACCCTGCGCTTCCCGTCCACCGCGCGCTTCCCCAGGCAGCCCCTGGGGTCAGGGGGCATTCTGCTCTTGCGCTAGACCCACGTGCTCGCCTAGGGGTCCAGTCTGCACCCCAGGCACTCAAAGCCAGGACACGAACCCCAACAAGCCTGAGCTCCGGTCTGGGTGCGGTGGGACAGGAGCCCAGGAGCCTGGACCGAAGGGAGTAGATGTCCAGCGGACGGGAGAGAGAGACAGAGGGTAAAAGGCTGAGTCCGAGAATTTCAGCCGGTCAGAGCCGGCAGGACATTTATCCCAAGTAATGCGGTCCTCGCCCCTCATTTTAAACTTTGGGGGAACTGAAGGCTGGGATGACCTGTTAGAGGACATGCATGGCTGTGAAAGATCTGGCTGAGACTCTGGGGACCATTTTAGGCAGAGTCTTGGGCCAGGGAGACAACGTTTCAATAACCCAGTTTGGAAAGTACCCAATCCCAGGCCCCTCTGTTCCTCTCCACAAGCATCACATTCAAAGAAACTCTGGAATGCACTGGAAGAAATAAACAAGGATTTCTGATGACTCCCAGAGGGTTTGAATTAAGCCGATGGCAGGAGGCTGGGAACTGGGGAACCACAGGAGTCCAACACTCTCGGGATGTCCGCCACAGGGACTGTTTTGCCAGTGTGTCCCAGAGTCAACGCCTCTTCAGCAAGGCGAGAACTGGGCCGCCCTTATCCGCTATCCAGACACCAGCACCATCACCCTTGCCCTGTAAGGTCTTATAGACCATAAAGGCTCTCCTCGTTGTATTACTCCAAGACCCATTGGAGGGAAACAGGACACACAGGGGACCCTGTGCCCCTAAACAGAAGCCCCAGGGAGCTGGCCAAAGCCCCGCGCCTGCGCTGCGCTTTCTGGCACCCTCACTGGAAGATGCCCACATTTCTCCTCCATCTCCTTCACTCTCCCCACCAAATCACTTACAGCCCAAAGGAACAGCTGTCCCGATCCTCAGGGTGGCCTCAAACACAAACTCGGGTGCGTTGGCTCCGCTGCTGGCGCCGCCAAAGCTGCGCTGCGGGGCTGCGCGCGCGCGAAGCAAGGGGGCAGTGGGAGGCTCCTGGCGTTCCCCTTTAACGGGAACAACGCCCTGTTTGCGTCGCTGCAGTAGGGTGTGTCCCTGGGTCAGCGTGTGCGGGAGGGCGGGACTCAGGGAGGAGAGGGGGCAGGAGAGAGGGAGGGCAGGAGACAGTCACTTGGCCTTAA
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ACCTGGAAAGGCAGCCAGTCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGATCAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGAAGACGAACAGCAGCACCAGCACCGCGACGTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGGAGTAGGTGCCCAGATTTCCGTCTGAGACCTGGAGACAGCCGTGGCATGCGGTGGGGGAGACAGCGGCGAGGAGGCTGGTTTCCCAGACCCCAGTGCTCTCCGCATTCCGTTTGTCTCCAAGTTTCCACCCAACTCTGCCAGCGTAGAGGAACGGTCCTGGCCCCAGCTCAGCCTCGCGCAGACTCTGGCGGCTCCGGAGAGGTGGTGCAGAGCCAGAGTAGTGTGGAAAGAAAAGAATGGCTCGAGAGGGTTGCCCGGACCCTGCGCTTCCCGTCCACCGCGCGCTTCCCCAGGCAGCCCCTGGGGTCAGGGGGCATTCTGCTCTTGCGCTAGACCCACGTGCTCGCCTAGGGGTCCAGTCTGCACCCCAGGCACTCAAAGCCAGGACACGAACCCCAACAAGCCTGAGCTCCGGTCTGGGTGCGGTGGGACAGGAGCCCAGGAGCCTGGACCGAAGGGAGTAGATGTCCAGCGGACGGGAGAGAGAGACAGAGGGTAAAAGGCTGAGTCCGAGAATTTCAGCCGGTCAGAGCCGGCAGGACATTTATCCCAAGTAATGCGGTCCTCGCCCCTCATTTTAAACTTTGGGGGAACTGAAGGCTGGGATGACCTGTTAGAGGACATGCATGGCTGTGAAAGATCTGGCTGAGACTCTGGGGACCATTTTAGGCAGAGTCTTGGGCCAGGGAGACAACGTTTCAATAACCCAGTTTGGAAAGTACCCAATCCCAGGCCCCTCTGTTCCTCTCCACAAGCATCACATTCAAAGAAACTCTGGAATGCACTGGAAGAAATAAACAAGGATTTCTGATGACTCCCAGAGGGTTTGAATTAAGCCGATGGCAGGAGGCTGGGAACTGGGGAACCACAGGAGTCCAACACTCTCGGGATGTCCGCCACAGGGACTGTTTTGCCAGTGTGTCCCAGAGTCAACGCCTCTTCAGCAAGGCGAGAACTGGGCCGCCCTTATCCGCTATCCAGACACCAGCACCATCACCCTTGCCCTGTAAGGTCTTATAGACCATAAAGGCTCTCCTCGTTGTATTACTCCAAGACCCATTGGAGGGAAACAGGACACACAGGGGACCCTGTGCCCCTAAACAGAAGCCCCAGGGAGCTGGCCAAAGCCCCGCGCCTGCGCTGCGCTTTCTGGCACCCTCACTGGAAGATGCCCACATTTCTCCTCCATCTCCTTCACTCTCCCCACCAAATCACTTACAGCCCAAAGGAACAGCTGTCCCGATCCTCAGGGTGGCCTCAAACACAAACTCGGGTGCGTTGGCTCCGCTGCTGGCGCCGCCAAAGCTGCGCTGCGGGGCTGCGCGCGCGCGAAGCAAGGGGGCAGTGGGAGGCTCCTGGCGTTCCCCTTTAACGGGAACAACGCCCTGTTTGCGTCGCTGCAGTAGGGTGTGTCCCTGGGTCAGCGTGTGCGGGAGGGCGGGACTCAGGGAGGAGAGGGGGCAGGAGAGAGGGAGGGCAGGAGACAGTCACTTGGCCTTAA
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Task1_train_23837
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Here is a genetic alteration in PMP22 (peripheral myelin protein 22) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Charcot-Marie-Tooth disease, type I
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TCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGATCAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGGAGACGAACAGCAGCACCAGCACCGCGACGTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGGAGTAGGTGCCCAGATTTCCGTCTGAGACCTGGAGACAGCCGTGGCATGCGGTGGGGGAGACAGCGGCGAGGAGGCTGGTTTCCCAGACCCCAGTGCTCTCCGCATTCCGTTTGTCTCCAAGTTTCCACCCAACTCTGCCAGCGTAGAGGAACGGTCCTGGCCCCAGCTCAGCCTCGCGCAGACTCTGGCGGCTCCGGAGAGGTGGTGCAGAGCCAGAGTAGTGTGGAAAGAAAAGAATGGCTCGAGAGGGTTGCCCGGACCCTGCGCTTCCCGTCCACCGCGCGCTTCCCCAGGCAGCCCCTGGGGTCAGGGGGCATTCTGCTCTTGCGCTAGACCCACGTGCTCGCCTAGGGGTCCAGTCTGCACCCCAGGCACTCAAAGCCAGGACACGAACCCCAACAAGCCTGAGCTCCGGTCTGGGTGCGGTGGGACAGGAGCCCAGGAGCCTGGACCGAAGGGAGTAGATGTCCAGCGGACGGGAGAGAGAGACAGAGGGTAAAAGGCTGAGTCCGAGAATTTCAGCCGGTCAGAGCCGGCAGGACATTTATCCCAAGTAATGCGGTCCTCGCCCCTCATTTTAAACTTTGGGGGAACTGAAGGCTGGGATGACCTGTTAGAGGACATGCATGGCTGTGAAAGATCTGGCTGAGACTCTGGGGACCATTTTAGGCAGAGTCTTGGGCCAGGGAGACAACGTTTCAATAACCCAGTTTGGAAAGTACCCAATCCCAGGCCCCTCTGTTCCTCTCCACAAGCATCACATTCAAAGAAACTCTGGAATGCACTGGAAGAAATAAACAAGGATTTCTGATGACTCCCAGAGGGTTTGAATTAAGCCGATGGCAGGAGGCTGGGAACTGGGGAACCACAGGAGTCCAACACTCTCGGGATGTCCGCCACAGGGACTGTTTTGCCAGTGTGTCCCAGAGTCAACGCCTCTTCAGCAAGGCGAGAACTGGGCCGCCCTTATCCGCTATCCAGACACCAGCACCATCACCCTTGCCCTGTAAGGTCTTATAGACCATAAAGGCTCTCCTCGTTGTATTACTCCAAGACCCATTGGAGGGAAACAGGACACACAGGGGACCCTGTGCCCCTAAACAGAAGCCCCAGGGAGCTGGCCAAAGCCCCGCGCCTGCGCTGCGCTTTCTGGCACCCTCACTGGAAGATGCCCACATTTCTCCTCCATCTCCTTCACTCTCCCCACCAAATCACTTACAGCCCAAAGGAACAGCTGTCCCGATCCTCAGGGTGGCCTCAAACACAAACTCGGGTGCGTTGGCTCCGCTGCTGGCGCCGCCAAAGCTGCGCTGCGGGGCTGCGCGCGCGCGAAGCAAGGGGGCAGTGGGAGGCTCCTGGCGTTCCCCTTTAACGGGAACAACGCCCTGTTTGCGTCGCTGCAGTAGGGTGTGTCCCTGGGTCAGCGTGTGCGGGAGGGCGGGACTCAGGGAGGAGAGGGGGCAGGAGAGAGGGAGGGCAGGAGACAGTCACTTGGCCTTAAATGCGCCTCAAGAAAAAG
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TCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGATCAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGGAGACGAACAGCAGCACCGGCACCGCGACGTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGGAGTAGGTGCCCAGATTTCCGTCTGAGACCTGGAGACAGCCGTGGCATGCGGTGGGGGAGACAGCGGCGAGGAGGCTGGTTTCCCAGACCCCAGTGCTCTCCGCATTCCGTTTGTCTCCAAGTTTCCACCCAACTCTGCCAGCGTAGAGGAACGGTCCTGGCCCCAGCTCAGCCTCGCGCAGACTCTGGCGGCTCCGGAGAGGTGGTGCAGAGCCAGAGTAGTGTGGAAAGAAAAGAATGGCTCGAGAGGGTTGCCCGGACCCTGCGCTTCCCGTCCACCGCGCGCTTCCCCAGGCAGCCCCTGGGGTCAGGGGGCATTCTGCTCTTGCGCTAGACCCACGTGCTCGCCTAGGGGTCCAGTCTGCACCCCAGGCACTCAAAGCCAGGACACGAACCCCAACAAGCCTGAGCTCCGGTCTGGGTGCGGTGGGACAGGAGCCCAGGAGCCTGGACCGAAGGGAGTAGATGTCCAGCGGACGGGAGAGAGAGACAGAGGGTAAAAGGCTGAGTCCGAGAATTTCAGCCGGTCAGAGCCGGCAGGACATTTATCCCAAGTAATGCGGTCCTCGCCCCTCATTTTAAACTTTGGGGGAACTGAAGGCTGGGATGACCTGTTAGAGGACATGCATGGCTGTGAAAGATCTGGCTGAGACTCTGGGGACCATTTTAGGCAGAGTCTTGGGCCAGGGAGACAACGTTTCAATAACCCAGTTTGGAAAGTACCCAATCCCAGGCCCCTCTGTTCCTCTCCACAAGCATCACATTCAAAGAAACTCTGGAATGCACTGGAAGAAATAAACAAGGATTTCTGATGACTCCCAGAGGGTTTGAATTAAGCCGATGGCAGGAGGCTGGGAACTGGGGAACCACAGGAGTCCAACACTCTCGGGATGTCCGCCACAGGGACTGTTTTGCCAGTGTGTCCCAGAGTCAACGCCTCTTCAGCAAGGCGAGAACTGGGCCGCCCTTATCCGCTATCCAGACACCAGCACCATCACCCTTGCCCTGTAAGGTCTTATAGACCATAAAGGCTCTCCTCGTTGTATTACTCCAAGACCCATTGGAGGGAAACAGGACACACAGGGGACCCTGTGCCCCTAAACAGAAGCCCCAGGGAGCTGGCCAAAGCCCCGCGCCTGCGCTGCGCTTTCTGGCACCCTCACTGGAAGATGCCCACATTTCTCCTCCATCTCCTTCACTCTCCCCACCAAATCACTTACAGCCCAAAGGAACAGCTGTCCCGATCCTCAGGGTGGCCTCAAACACAAACTCGGGTGCGTTGGCTCCGCTGCTGGCGCCGCCAAAGCTGCGCTGCGGGGCTGCGCGCGCGCGAAGCAAGGGGGCAGTGGGAGGCTCCTGGCGTTCCCCTTTAACGGGAACAACGCCCTGTTTGCGTCGCTGCAGTAGGGTGTGTCCCTGGGTCAGCGTGTGCGGGAGGGCGGGACTCAGGGAGGAGAGGGGGCAGGAGAGAGGGAGGGCAGGAGACAGTCACTTGGCCTTAAATGCGCCTCAAGAAAAAG
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Task1_train_23838
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A variant found in Chromosome 17 affects PMP22 (peripheral myelin protein 22). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Charcot-Marie-Tooth disease, type I
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TGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGATCAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGGAGACGAACAGCAGCACCAGCACCGCGACGTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGGAGTAGGTGCCCAGATTTCCGTCTGAGACCTGGAGACAGCCGTGGCATGCGGTGGGGGAGACAGCGGCGAGGAGGCTGGTTTCCCAGACCCCAGTGCTCTCCGCATTCCGTTTGTCTCCAAGTTTCCACCCAACTCTGCCAGCGTAGAGGAACGGTCCTGGCCCCAGCTCAGCCTCGCGCAGACTCTGGCGGCTCCGGAGAGGTGGTGCAGAGCCAGAGTAGTGTGGAAAGAAAAGAATGGCTCGAGAGGGTTGCCCGGACCCTGCGCTTCCCGTCCACCGCGCGCTTCCCCAGGCAGCCCCTGGGGTCAGGGGGCATTCTGCTCTTGCGCTAGACCCACGTGCTCGCCTAGGGGTCCAGTCTGCACCCCAGGCACTCAAAGCCAGGACACGAACCCCAACAAGCCTGAGCTCCGGTCTGGGTGCGGTGGGACAGGAGCCCAGGAGCCTGGACCGAAGGGAGTAGATGTCCAGCGGACGGGAGAGAGAGACAGAGGGTAAAAGGCTGAGTCCGAGAATTTCAGCCGGTCAGAGCCGGCAGGACATTTATCCCAAGTAATGCGGTCCTCGCCCCTCATTTTAAACTTTGGGGGAACTGAAGGCTGGGATGACCTGTTAGAGGACATGCATGGCTGTGAAAGATCTGGCTGAGACTCTGGGGACCATTTTAGGCAGAGTCTTGGGCCAGGGAGACAACGTTTCAATAACCCAGTTTGGAAAGTACCCAATCCCAGGCCCCTCTGTTCCTCTCCACAAGCATCACATTCAAAGAAACTCTGGAATGCACTGGAAGAAATAAACAAGGATTTCTGATGACTCCCAGAGGGTTTGAATTAAGCCGATGGCAGGAGGCTGGGAACTGGGGAACCACAGGAGTCCAACACTCTCGGGATGTCCGCCACAGGGACTGTTTTGCCAGTGTGTCCCAGAGTCAACGCCTCTTCAGCAAGGCGAGAACTGGGCCGCCCTTATCCGCTATCCAGACACCAGCACCATCACCCTTGCCCTGTAAGGTCTTATAGACCATAAAGGCTCTCCTCGTTGTATTACTCCAAGACCCATTGGAGGGAAACAGGACACACAGGGGACCCTGTGCCCCTAAACAGAAGCCCCAGGGAGCTGGCCAAAGCCCCGCGCCTGCGCTGCGCTTTCTGGCACCCTCACTGGAAGATGCCCACATTTCTCCTCCATCTCCTTCACTCTCCCCACCAAATCACTTACAGCCCAAAGGAACAGCTGTCCCGATCCTCAGGGTGGCCTCAAACACAAACTCGGGTGCGTTGGCTCCGCTGCTGGCGCCGCCAAAGCTGCGCTGCGGGGCTGCGCGCGCGCGAAGCAAGGGGGCAGTGGGAGGCTCCTGGCGTTCCCCTTTAACGGGAACAACGCCCTGTTTGCGTCGCTGCAGTAGGGTGTGTCCCTGGGTCAGCGTGTGCGGGAGGGCGGGACTCAGGGAGGAGAGGGGGCAGGAGAGAGGGAGGGCAGGAGACAGTCACTTGGCCTTAAATGCGCCTCAAGAAAAAGTCGGTCCCTGC
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TGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCCTGTCACATCCCACCCCACCCCAGCAACGACATTCTGGCTTGTGTCTTCCAATAAGCGTTTCCAGCTCTGGGCTGAGAAACGTGTTACAGGCGTCTGAGGACAAGCTCATGGAGCACAAAACCAGCCTCACCGTTTGGTGATGATGAGAAACAGTGGTGGACATTTCCTGAGGAAGAGGTGCTACAGTTCTGCCAGAGATCAGTTGCGTGTCCATTGCCCACGATCCATTGCTAGAGAGAATCAGATAGATATCCTGAGTCAGGGAGGGAGGGAGGAGTGAAGGAAAAGGGGAAGGAGAAAGGCCCAGGGATGGCGAAAAGCACCCGCATCCACCTAGCCACACCGCCCACCCCTGCATGGTAAGAGCCAACGTTTTATGACTTAAAAGCACCTTGTAAATGGAGAAGTTCCACATGCACACAGAAACGATTATGTGCAGAGATGTTTACTATAGTAGAAGGAGCCATGAACTCAACCTTAGACACCTGCATTCAAGCCTTCTCTCCTCCCAGCATCTCGGGATCATTCCCCAAGCCCGCCTCTCTCAGTCTATTTCCTTGTTTATAGCTCCTATCAGTCTGATATCATCATCACCAGGCACAATGGAGATACTGTGAAGATGCTTGTAAATGTTAAACTAAGTCACAAATCCCCAACATAATTATTTCTCACAGAGACTAGAAAATCATGCTTACAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGGCTGAGGCAGGAGAATGGCTTGAACCCGGAAGGCAGAGGTTGCAGTAAGCCAAGATCATGGCACTGCACTCCAGCCCGGGTGACAGGCTGGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAACGAAAAAGAAAATCATGCTTACAATGTGCCTTAAATTAAGAAGTGAAAGCCACCACTGGAAAACTGCCTGAATGTCTGCTCATCTTCATCGCCAAGAAAATAACTTTAAGATCTAATGGGCTGGACAGTTTTGTAACAGAAGTTACTCTGATGGCCTGTTCCTACCAGTGGAAGCTTTACTAACAATGTGTTGTGTTCATGCCATAAAGCCGACATGGGACCTGTGAACTCTTTTCCAGAAAAGCCCATTTTAACTTTCCAATTTCAAGTCCTAAAAGGGTGTTTTATAAATTAATTCACCCATCTGACTATGGTTTGGAGAAAAAAAAATCATAAATACTCCTCTTCTTCAACGAGGCTGCATCAAGAAAAAAAAAAGTTAAACAATCTTGTCAAATGAAGGTCGGGGACCCTAGATCGGCTCTGAAGTTACTTGGCTTAAATAGAGACCTGCGCAGCTAACCCAGCCCAGCGCTCGCTTGGTTCCTATCACTGAATCTGCTCTCGTTTTCTCAAAGCAACTGGAAGGGGGCAGATTGCCAGAAACTTCCCTGGGACGTCTGAGACTTCCAACTGTCTGCAAATAACACAGTCCTGAACCAGCAGGAGCACGGGCTGGGAACCCAGATGGGGAAGGGCGGGCCGCGCAGGGAGCCTCCCCGCCAGGCACTCACGCTGACGATCGTGGAGACGAACAGCAGCACCAGCACCGCGACCTGGAGGACGATGATACTCAGCAACAGGAGGAGCATTCTGGCGGCAAGTTCTGCTCAGCGGAGTTTCTGCCTGCGAGGAGAGCGCTGGGCGTGAGGCCGAACGCACTGGGCCGAGCGACGGAGGCGCGCGCAGAGGGAGGGTCCCGCGCACTAGCGGAAGGCCCGGCCTGGCCCAGCGCCCGCAGCCCGACCGCCCGCGCGGGTCAGGAGCCTTCGCGCCGCCTGCCGCCGAGAGGGGGCAGCAGCCGCCTGCAGGACCAGCGCCCAGTGCCCAGCGCCCAGCCGGGCCCGCCTGCAACGGAACATCTTTTGCTTTTGGAAACAAAACAAGCGGTTCGCACGTCTAAAACCACCCAGGGAACGGAGGGGTTTCCAGAAAATATGAGCAGAGGCCACTGCACGCTTCCACCCACCCCAAGCACCTCCCGGCGACCTCCCTGGAAGGTGAGAGGTCACGTTCTCCGAGACCCCGGTTCAGATGGTGAATTCCCCTATGGGGTGGAGGTAGGGGTGAGGGGAGTAGGTGCCCAGATTTCCGTCTGAGACCTGGAGACAGCCGTGGCATGCGGTGGGGGAGACAGCGGCGAGGAGGCTGGTTTCCCAGACCCCAGTGCTCTCCGCATTCCGTTTGTCTCCAAGTTTCCACCCAACTCTGCCAGCGTAGAGGAACGGTCCTGGCCCCAGCTCAGCCTCGCGCAGACTCTGGCGGCTCCGGAGAGGTGGTGCAGAGCCAGAGTAGTGTGGAAAGAAAAGAATGGCTCGAGAGGGTTGCCCGGACCCTGCGCTTCCCGTCCACCGCGCGCTTCCCCAGGCAGCCCCTGGGGTCAGGGGGCATTCTGCTCTTGCGCTAGACCCACGTGCTCGCCTAGGGGTCCAGTCTGCACCCCAGGCACTCAAAGCCAGGACACGAACCCCAACAAGCCTGAGCTCCGGTCTGGGTGCGGTGGGACAGGAGCCCAGGAGCCTGGACCGAAGGGAGTAGATGTCCAGCGGACGGGAGAGAGAGACAGAGGGTAAAAGGCTGAGTCCGAGAATTTCAGCCGGTCAGAGCCGGCAGGACATTTATCCCAAGTAATGCGGTCCTCGCCCCTCATTTTAAACTTTGGGGGAACTGAAGGCTGGGATGACCTGTTAGAGGACATGCATGGCTGTGAAAGATCTGGCTGAGACTCTGGGGACCATTTTAGGCAGAGTCTTGGGCCAGGGAGACAACGTTTCAATAACCCAGTTTGGAAAGTACCCAATCCCAGGCCCCTCTGTTCCTCTCCACAAGCATCACATTCAAAGAAACTCTGGAATGCACTGGAAGAAATAAACAAGGATTTCTGATGACTCCCAGAGGGTTTGAATTAAGCCGATGGCAGGAGGCTGGGAACTGGGGAACCACAGGAGTCCAACACTCTCGGGATGTCCGCCACAGGGACTGTTTTGCCAGTGTGTCCCAGAGTCAACGCCTCTTCAGCAAGGCGAGAACTGGGCCGCCCTTATCCGCTATCCAGACACCAGCACCATCACCCTTGCCCTGTAAGGTCTTATAGACCATAAAGGCTCTCCTCGTTGTATTACTCCAAGACCCATTGGAGGGAAACAGGACACACAGGGGACCCTGTGCCCCTAAACAGAAGCCCCAGGGAGCTGGCCAAAGCCCCGCGCCTGCGCTGCGCTTTCTGGCACCCTCACTGGAAGATGCCCACATTTCTCCTCCATCTCCTTCACTCTCCCCACCAAATCACTTACAGCCCAAAGGAACAGCTGTCCCGATCCTCAGGGTGGCCTCAAACACAAACTCGGGTGCGTTGGCTCCGCTGCTGGCGCCGCCAAAGCTGCGCTGCGGGGCTGCGCGCGCGCGAAGCAAGGGGGCAGTGGGAGGCTCCTGGCGTTCCCCTTTAACGGGAACAACGCCCTGTTTGCGTCGCTGCAGTAGGGTGTGTCCCTGGGTCAGCGTGTGCGGGAGGGCGGGACTCAGGGAGGAGAGGGGGCAGGAGAGAGGGAGGGCAGGAGACAGTCACTTGGCCTTAAATGCGCCTCAAGAAAAAGTCGGTCCCTGC
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Task1_train_23839
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This mutation is located in gene TEKT3 (tektin 3) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Spermatogenic failure 81
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ATGGTGCCTCTCTGGGAGTGGTGAGAGATTTGTAGTCCCAGAGCACACCGCTCTGTCCAGGTCAGCTAAGGGGTACCACTGGCGGTTGATTTACCTTTGCTAAGTGCGTCTGAATCTTATTCTTAGCATCTGCAGTCTCAGCAATGCGATTGGTGAAAGACAAGTTCACTTTGTTGAATTGATTCCACATCTCATTGGCAGTCACAACCAAGAGGTTTTCAATGTCGTCTCTTAGCTTAGCGGAAGCTGCCCGTTCACTCTGGGAGCGGAGAATATTGTCATCTGTAAATTTGGCCCAGGACTCAGGCACTGAGACACTGAAAAAGAGAAGCAGAAGCAGACAACAGTGAGAGTGATGAATCAGCCTACAGGATCGCTAGGCAATCATTTATCCTGAGAGAGAGAAACCCCCAGGTCGCTGATCCTAGCTTCATTATATAAATGTGAATATCAGAATGAGGCTTATTTTCAACTTTCCTTAATTATTCCTTATTTTACTGCTAATCAGTTTTCTATTTATCTAAAGCGTAAGCTGGTTCTTCTGCCAGTTTCAAGGGGCAAAAGGATTAATGAATGATGTGAACGTGTAGGTTCATTATAAATGTGTCACACATCACATCAATAAGCATATGACAAAATACTCAGCCTCAAGGGTAATCAAAGAAGCATTAATGAAAACAGCCTACTAAGGAAATATTAGCAGGAGTAGAGAGAATGATCATTTGCAGTGCTGGCGAGCATATTTAGAAAAAGTTTCTCTTGTATCCTACAGATGAGAATGTTGAATTGGTACAACCTTCCTGGAGGGTAAAGAGGCAACACAAACCAACAGCCTTTCATTCAAATGTGGAAAACCCAGAACTTCCACTTCTAGAAATGTATTATAAGGAAACAATGTACCCAAGGATATACGTGTGAGGATATTCATTTCAGCCATATTTATGCTGATCCCTGAAAAATGAGAAACTACCTAAATGCTCAAAAGTTTAAAACAAAAAGGTTGATTATGGTACATTCAAAAAAGTAATCCATATACCAGGCAAATTCATGTTAAAGTAGAATATTTATTTTACAGACAATGTTACTGAAAAATCAGACAGGCTATATTTCAACTGCGTGCATTGTATGGTATGTGAATTTCAATCAAGTTAACTTTTTTAAGAAAGTGGCTGGAAGAGACCATGGATCCTGCCCAAAATTGCATCCAGGGGCCTGGCAAAGAAACCACTGGTGGGGTAAGTTGAACAAGCTGTGGTAGGAAAGGCATCAAGCTGTTTTCAGCCTGTATCCCACAGCATCCAGGGCATGCTATACAATGGCAACTTGTGGCTTGTCTGTGTTTTTCTTTTTTTTTTCTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGTCAGGCTGGTCTCGAACTCCTGACCTCAACTGATCCTCCTATCTCAGCATCCCAAAGTGCAGGGATTAGGTGTGAGCCACCGCACCCGGCCTTGTCTGTGTTTTTCTAGGACTTCTGCATCAGGTAGGGTTATTTTCATAGTTAGAAAATATAAGTAACAAATATTACTTTACAAAAGAATTCAGGATGCAATTATCAAGGTCTGACCACAGAACGTGCTTGCTTACTGGAGACTTGTCCAAAGCTGGGTGTGTTTCTCACCTTCAGATATCTTACCTTGCTTTCCATTTTAACCTGTAAGCTGTGTCCTTTCGAAAGGAGAAAGAGTTAAATGACATCGAAATCACAGCCGTGGCGTGTGCCTGACTTACGTTGCATCGACCCTCTCCACTCCGCGGAAGTAGCCGACACCGTCTGATGTGTTGCGCAGGTGGTGGCATTTGTCGTCGATCCGGTAAGCCGTCTGTTTGTCACTCAGGTCCTTTTCCAGCTCATGCTGGGACGCTCTGTTGGCTCTGCAATACAGAGTCGGGAAGTGGAGCTTCACACTCAGGTGACAATGTCCTGCAAGGACACATGAGTGCCCTTCCATATTGGGACCTCTCTCACTGTTGCTCTCACCATCTCTCCCTCTTCACACAGCGTTCAATTTCTCAGTCAAAACGAGCACTCTCTGGATATGCCCATACCTCTACGTCACTGGGACCCTAACTCCCACCTTGTCTACACTTCTCCTTTCATAGGGTGGGATGGAAGTGGGTAGAGCAGGTGAAGATAAACAGGGGTCCAGGATCTGCAGCCCCAGCTGGGGCCCATCTCCCTAAAACACACAAACTCTTCCAGACAGGACACGGGTTCAAAGTAATCTGTCCACATCTGTGCCTTCCATTCCTTCCTTTTCCTTTTCCTTTTCCTCTTCTATATCTCAGCTCCCTTTTCCTCCATTATTTGAATATAAATCCCCAAGAAATCATGAGGCCTTTATAGCCGAGCCTCCTGCCATCCATTGGTAACCTTGGTTTGTGGTCATGCTGTGGCTAAGAAGTTTGCCAGGAGATAAAAACCAAGGATCAAAATTAACCTCCAGGGCAGGAGTGAGAGAGGGCTTCAGCAGAGATCGGGAACTAATGGTCCACCCAGGCTCACACACTCCAGCAGCCACCCTGCTGGAAGGAAGAGGCCTCAGTAAGCTCTGAGATGTATGGTCTTGCCTGCACTGCCAGGCAGACAGGGGACCCACAGCTTATTACCAAAGACAGACCCTGGGGGCAGGCATAGATGACAGGTGAGCCACATGGAATACTTCATTCGACAAATAATTATTGAGTGCCTCCTATGTGGCAGACACCATTCTGCAAGCCTGGGATGCGTCAGTGGACACCACCAACATCTCTTCTCTAAGGAGCCGACATGTTTCTGGGAGGAGACAGCACATTCAATGAATCGGCAATTTGTGTGGTTCGAAGAACAATGCTAAAAACAAAGCAGGAGAAAAGAGACCAGGACTGTGGTTATGATTTTAAAGAGGATGGCCAGAATAGGTTTCACCAGGTGACATTGAGCAAAGACATAAAAAAGGAGGAATCAGATCATGCAGGGCCCTAATGGACATGGGAATGAATCAGGTTTTCCTTCGAGTAAAATTGGAGGCCATTGACTTACAATTTAAAAGGATCATTCTGGTGCTGGGCTGAGAACAGACTGCCGGGGGCAGGAAGACCCATTAGGGGGCCACTGCAGTTACTCAGGTGAGAGATGAAGGCGGCTTGGACCAAGAGGATGAAAGTGAAGGAAGCAAGAAGAAGTATTCAGATTCTGGATATGGTTTGAAGATAGAACCAAGAGAATCTCCTATGAAATTGAACACCAGTGAGAAAAAAAAAAAAAAAAGAGCTTGAGTCGTTGGAATAATGGAATTCCATCAACTAAGATAGGGGGTTGGCTGGGGAGGGAGAAGCTAGGGGAGAAGATGGAAGTTCAGTTGACATAGTAAACTTGAGTGTTCACTGAACATCTACATGGGAGACATGAAGGAGGTTGTTGGAATTTGAAAGAGACATCTAGGCTAGAGATAAAAAGTAGGGAGACACTGACAGATAACCAGTATTTGAAAAAGTAGGATAGCTGAATGAGCTTGGGAATTTCTATATTCTCAGCACCTAAAAATGGTTTTGGTAGAGCAAAGCCGTTCACTCAGTAAAGGCTGTGTTGAATGGAATGAGTCAGTTCTAGCTGCAGGTTCCCTTCAACTTAGCCTGTGCTTTCAAGCAAATCACTTGACCTCTCAAAGCTGTTTTTCTTCTTTGTAAAGTGTAAATGAGAGTAGCGACATGCAAATGATCTGCACTTTGTGAATTCTAAGACAGTATACATGTGCGAAGGATGAAAAAGGAAAAAGCTCCCTTCCCTTGCTACTTCTGTGCTGAGGCTCTTGCCTTAGGTGATTATGCTGAAATTCTAGGACTAGAAGGCCTTTCTCCTTTGGTCTGGGACCAAGATGTCCCACAAGCTTCCTGTCTTAAGCTGAGACCCTGTTAGAGAAGGG
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ATGGTGCCTCTCTGGGAGTGGTGAGAGATTTGTAGTCCCAGAGCACACCGCTCTGTCCAGGTCAGCTAAGGGGTACCACTGGCGGTTGATTTACCTTTGCTAAGTGCGTCTGAATCTTATTCTTAGCATCTGCAGTCTCAGCAATGCGATTGGTGAAAGACAAGTTCACTTTGTTGAATTGATTCCACATCTCATTGGCAGTCACAACCAAGAGGTTTTCAATGTCGTCTCTTAGCTTAGCGGAAGCTGCCCGTTCACTCTGGGAGCGGAGAATATTGTCATCTGTAAATTTGGCCCAGGACTCAGGCACTGAGACACTGAAAAAGAGAAGCAGAAGCAGACAACAGTGAGAGTGATGAATCAGCCTACAGGATCGCTAGGCAATCATTTATCCTGAGAGAGAGAAACCCCCAGGTCGCTGATCCTAGCTTCATTATATAAATGTGAATATCAGAATGAGGCTTATTTTCAACTTTCCTTAATTATTCCTTATTTTACTGCTAATCAGTTTTCTATTTATCTAAAGCGTAAGCTGGTTCTTCTGCCAGTTTCAAGGGGCAAAAGGATTAATGAATGATGTGAACGTGTAGGTTCATTATAAATGTGTCACACATCACATCAATAAGCATATGACAAAATACTCAGCCTCAAGGGTAATCAAAGAAGCATTAATGAAAACAGCCTACTAAGGAAATATTAGCAGGAGTAGAGAGAATGATCATTTGCAGTGCTGGCGAGCATATTTAGAAAAAGTTTCTCTTGTATCCTACAGATGAGAATGTTGAATTGGTACAACCTTCCTGGAGGGTAAAGAGGCAACACAAACCAACAGCCTTTCATTCAAATGTGGAAAACCCAGAACTTCCACTTCTAGAAATGTATTATAAGGAAACAATGTACCCAAGGATATACGTGTGAGGATATTCATTTCAGCCATATTTATGCTGATCCCTGAAAAATGAGAAACTACCTAAATGCTCAAAAGTTTAAAACAAAAAGGTTGATTATGGTACATTCAAAAAAGTAATCCATATACCAGGCAAATTCATGTTAAAGTAGAATATTTATTTTACAGACAATGTTACTGAAAAATCAGACAGGCTATATTTCAACTGCGTGCATTGTATGGTATGTGAATTTCAATCAAGTTAACTTTTTTAAGAAAGTGGCTGGAAGAGACCATGGATCCTGCCCAAAATTGCATCCAGGGGCCTGGCAAAGAAACCACTGGTGGGGTAAGTTGAACAAGCTGTGGTAGGAAAGGCATCAAGCTGTTTTCAGCCTGTATCCCACAGCATCCAGGGCATGCTATACAATGGCAACTTGTGGCTTGTCTGTGTTTTTCTTTTTTTTTTCTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGTCAGGCTGGTCTCGAACTCCTGACCTCAACTGATCCTCCTATCTCAGCATCCCAAAGTGCAGGGATTAGGTGTGAGCCACCGCACCCGGCCTTGTCTGTGTTTTTCTAGGACTTCTGCATCAGGTAGGGTTATTTTCATAGTTAGAAAATATAAGTAACAAATATTACTTTACAAAAGAATTCAGGATGCAATTATCAAGGTCTGACCACAGAACGTGCTTGCTTACTGGAGACTTGTCCAAAGCTGGGTGTGTTTCTCACCTTCAGATATCTTACCTTGCTTTCCATTTTAACCTGTAAGCTGTGTCCTTTCGAAAGGAGAAAGAGTTAAATGACATCGAAATCACAGCCGTGGCGTGTGCCTGACTTACGTTGCATCGACCCTCTCCACTCCGCGGAAGTAGCCGACACCGTCTGATGTGTTGCGCAGGTGGTGGCATTTGTCGTCGATCCGGTAAGCCGTCTGTTTGTCACTCAGGTCCTTTTCCAGCTCATGCGGGGACGCTCTGTTGGCTCTGCAATACAGAGTCGGGAAGTGGAGCTTCACACTCAGGTGACAATGTCCTGCAAGGACACATGAGTGCCCTTCCATATTGGGACCTCTCTCACTGTTGCTCTCACCATCTCTCCCTCTTCACACAGCGTTCAATTTCTCAGTCAAAACGAGCACTCTCTGGATATGCCCATACCTCTACGTCACTGGGACCCTAACTCCCACCTTGTCTACACTTCTCCTTTCATAGGGTGGGATGGAAGTGGGTAGAGCAGGTGAAGATAAACAGGGGTCCAGGATCTGCAGCCCCAGCTGGGGCCCATCTCCCTAAAACACACAAACTCTTCCAGACAGGACACGGGTTCAAAGTAATCTGTCCACATCTGTGCCTTCCATTCCTTCCTTTTCCTTTTCCTTTTCCTCTTCTATATCTCAGCTCCCTTTTCCTCCATTATTTGAATATAAATCCCCAAGAAATCATGAGGCCTTTATAGCCGAGCCTCCTGCCATCCATTGGTAACCTTGGTTTGTGGTCATGCTGTGGCTAAGAAGTTTGCCAGGAGATAAAAACCAAGGATCAAAATTAACCTCCAGGGCAGGAGTGAGAGAGGGCTTCAGCAGAGATCGGGAACTAATGGTCCACCCAGGCTCACACACTCCAGCAGCCACCCTGCTGGAAGGAAGAGGCCTCAGTAAGCTCTGAGATGTATGGTCTTGCCTGCACTGCCAGGCAGACAGGGGACCCACAGCTTATTACCAAAGACAGACCCTGGGGGCAGGCATAGATGACAGGTGAGCCACATGGAATACTTCATTCGACAAATAATTATTGAGTGCCTCCTATGTGGCAGACACCATTCTGCAAGCCTGGGATGCGTCAGTGGACACCACCAACATCTCTTCTCTAAGGAGCCGACATGTTTCTGGGAGGAGACAGCACATTCAATGAATCGGCAATTTGTGTGGTTCGAAGAACAATGCTAAAAACAAAGCAGGAGAAAAGAGACCAGGACTGTGGTTATGATTTTAAAGAGGATGGCCAGAATAGGTTTCACCAGGTGACATTGAGCAAAGACATAAAAAAGGAGGAATCAGATCATGCAGGGCCCTAATGGACATGGGAATGAATCAGGTTTTCCTTCGAGTAAAATTGGAGGCCATTGACTTACAATTTAAAAGGATCATTCTGGTGCTGGGCTGAGAACAGACTGCCGGGGGCAGGAAGACCCATTAGGGGGCCACTGCAGTTACTCAGGTGAGAGATGAAGGCGGCTTGGACCAAGAGGATGAAAGTGAAGGAAGCAAGAAGAAGTATTCAGATTCTGGATATGGTTTGAAGATAGAACCAAGAGAATCTCCTATGAAATTGAACACCAGTGAGAAAAAAAAAAAAAAAAGAGCTTGAGTCGTTGGAATAATGGAATTCCATCAACTAAGATAGGGGGTTGGCTGGGGAGGGAGAAGCTAGGGGAGAAGATGGAAGTTCAGTTGACATAGTAAACTTGAGTGTTCACTGAACATCTACATGGGAGACATGAAGGAGGTTGTTGGAATTTGAAAGAGACATCTAGGCTAGAGATAAAAAGTAGGGAGACACTGACAGATAACCAGTATTTGAAAAAGTAGGATAGCTGAATGAGCTTGGGAATTTCTATATTCTCAGCACCTAAAAATGGTTTTGGTAGAGCAAAGCCGTTCACTCAGTAAAGGCTGTGTTGAATGGAATGAGTCAGTTCTAGCTGCAGGTTCCCTTCAACTTAGCCTGTGCTTTCAAGCAAATCACTTGACCTCTCAAAGCTGTTTTTCTTCTTTGTAAAGTGTAAATGAGAGTAGCGACATGCAAATGATCTGCACTTTGTGAATTCTAAGACAGTATACATGTGCGAAGGATGAAAAAGGAAAAAGCTCCCTTCCCTTGCTACTTCTGTGCTGAGGCTCTTGCCTTAGGTGATTATGCTGAAATTCTAGGACTAGAAGGCCTTTCTCCTTTGGTCTGGGACCAAGATGTCCCACAAGCTTCCTGTCTTAAGCTGAGACCCTGTTAGAGAAGGG
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Task1_train_23840
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This mutation is located in gene TEKT3 (tektin 3) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Spermatogenic failure 81
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TACCAGAAGAAGAATTAACGGGTAGAGGGGAACTCTGATTATTTTGATATGTATTACCAAACTGCTTCCCAGGAAATTTCTACCAATCCATAGCCCCACCAGTAATATATGAAAGTGCCCATTTGCTGCTCTTACGCCAGCTCTAAATGTCATGCATTTTCATTATTGCAAATTTGATAGGCCAAAGGTAGTTATTTCATTGATTTAATTTGTATTTTATCATTAAGCTTTAACATTTTTTCTTATATTTGTTGATCGCCTATATTTTCTCTTTGGAGGCTTATCTGTTCATGTGACTCAATTTAAAAAGGACCCTCTAATACTGTGTTGACAATAAATTTTCAAACACACAAGAACATCTGGACAAAAACTGCAGAAAAAATTCAAATTAGAACCATCTTTCTGAAAGTAGTCATCACTGAAAGGGTTACTAAGAGAAGAAACTGAATCTCCACTGGAAATTAAGAAAGTAGCTATCATTTTAAGGATATTTTCAATTCTTAAAGGCAGTCAAGGGTAGGAAGAACTGTAGAATAAACCAATACTTCAGAGTAATCTGATGCTCAGGGAAGGCGTAGAAGCCCTTCTGATTCTAAACAAAAATTTATGATGAATTAATTCAAAAAGATCATTAGTGAACTATCAGCCATTCTCAGGATTCCTGGGGATTGTGTGCCTCTGTATGTGTTTTTGTACAGCGGGGAGGGGTTGCAGTAGGAAGTGACAGTGCGCAGGGTGCCCCAAGAAACTCCTCCGCTCACCAGACTTTCAGCTCCTTGATTCTCTAAACTCTTCTACTACAGATGCTGTGGTAGAGAACTACAGCAAGTGCTCATCACATGGGAATAAGTCATGCAAACATGAGGAAAAATGGTGCTAGCTGTGCTCATCAAAATGTATACTTCTAAAATAATTTGTATAATTTGCACATCTTCAAACATGGAATGTCTTCTTTCAATGGAGGAGGGTGGAATGGGGTTGGAGGGCCCATCGCATAGCCTGAGGGTTAGAGGTGACCTGAGCCCATTCAGAAGCCTGGTCAGAGGCCAGTAACCAACTGAAATGCTCCCTACATTACTATGGCAACTGGCCAATCTCAGCACCATTTTTCTATTTAATCAAGCAAATTCCATGCCCTAAGATGGTCTCATTTGATGATGTCACTACATCCTAAAAGGGAATCATAACATATATACAGGAGGCGTTTCATGATACAGACTAAAAAAATAAAGGTTTTGGTCTCAAATATTGTTTATTTTAATTTAGTGACAGCAATGATGAAGCAGCCTATTTAAGAGATAAGATGGTCATATGGTTTGGATCTGTGTCCCTGCACAAATCTCAAGTCAAATTGTAATCCACAATGTTGGGGGTGGGGCCTGGTGGGAGGTGATTGGATCGTGGGGGTAGATCCTTCATGAATGGTTTAGCACCGTCCCTTCGGCGCTGTTCTCAGGATAGTGAATGAGTTCTCTGGAGATCTGGTTGTTTAAAAGTGTGTGGCACCCTCCCCCGTTCTCTCTTGCCCCTGGACCCTTCATTTAAGATACCTGCTCCTCCTTTGCCTTCTGCCATGATTGGAAGCTTCCTAAGGGCTCCCCAGAAGCAGAAGCCATTATGCTTCCTGTACAGCCTGTAGAACCAGGCGCCAATTAAACCTCTTTTCTTTATAAATTACTGAGTCTCAGGTATTTCTTTATAGCAATGTGAGAATGGCGGAATACAGATGGCGTGTTCACCTTAAAACATTGTGTGTCCTAATGGTGTCTATTTAATTGGTCTTCTTTGCTTTGCATTCAGAATTACCTCTTAAAGTGGTTGTTCTTAAAGTATATAATGCATTTAAAAAAAAAATAGGCAGTGGTTTTGCCATTGCTGAAAACAGTCACAGATTTATTGATAGGGGGTTGGCTTCAACAGATGAAGTAAAACATAAGTCAATAAATAAATAACCACAGTAACTCAACCAGTGGGTTATAATCATAAAAATTCAGTGTGTTCTATCATAAGGTCTTACCTGAAGAGGGGCTTCAGTCTCCATCAAAGCCCGCTCCAGTCTTTTCTTCACATCAGTAAGTGCATTTGTCTCTCCAATCATTTCATCCAACTCATGAATGATTTCAGATTTCCAAAACCCTATGTCATTGACACGTTCTCCCAGATTTTGGGTTGTGTCTGCCTGAGTTTTTCTTGTTTGTTGATATTTGTCTTGAATCAGGCGAGATGTATCCACTCTTAGTTTCTCCGAATTATGTCGGGAAGTGTTGGACTCTTGATAGTTGGTTAAATTGGACCTGTACCAGTCATCCGGTGTGTATCTTGTGAAGAAAGTGGTTCTGTTGGAAACAAAGGGAAGCATGGTATTCTCGGACACCCTCTGTGATCTGGTGCAGTACGGGGCCACGCTTGGGGAATTGGAGGCGACTTTGTAGTATGTGCTGGGTCTCCAAGGAAGGCTCAGGCTATGGGTCAAATTGGAGTGGGGAAAGCGGTCCCTGTAGCTTGAGGCCATGGTACTGATGGCTGGTAGAAAGTTGGTTGGTGTTGGTCTAGGGTGGGCGTAAGTTGTCGTTAAAGTACAACCTACACGTTCCATGATGCCAAAACACTATTTGTAAATCTCTCCTGTTAAAAAATAAAAAGTAAAATAAGACAGTCACATAAAATAATCTCTGGTGAAACATACAGATAAAAGGCCACATCTGACTTAGTATCAGTTGCAGAGGCCCCGAACACATTAGATGCTTGTTCTCATTTGTTATCCACATTCACCATTGATAATATATTCCAACAAAGTTTTTTTTTAATCTCTATGTCTCTAGAATGTATAAAGATCACATTTTTATTGGCCATTTGGACTTTTGAATTTTTGTGAAAATTATGAGAGTAATATTGTCTTGTTGTAACAAATTCAAATTAGGAGCCTAAACTATGCATCTTAACGGATAGGGATTCAAAATAGATTTCTCACTTGAAGTCAGGAGTTCGAGACCAGCCTAGCCAACAAGACGAAATGTCGTCTCTGTTAAAAATACAAAAATTAGCCAGCTGTTGTGGCAGGCACCTGTAATCCCATCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGTGGCGGGGGTGGGGGGCAGATAGATTGCAATGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCTACAGAGAGACTCCGTCTAAAAAATAAATAAATAAATAAATAGATTTCCGTCTCAAACCATGATAGACTAATAAAAACTAGACTTAGCCTCTTATATCTAAAAATCTAGACAAGAAACTACTGATTTCAGACATTGGACAATGGACAGCACAGGACTCTGAGCCATGAGAAAAGAGAAACAAGGTGAGCCCACCTATTTATTAGCTATGTGACACTGGGTAAATTACTTAACCTCTCTGTGCCTCGGTTGCTTCACTTAGAAATAATAGGGAATAATAATAGCACTTCCTTCTTTGGACTGTTGTGAGCAGTGGTAGCAGCAGGGAATTGCTTGGCAACTCCCCGCCCCTGCCCCCACAAGTCATCCTAAATAAACACTCCATCTGGATGACAATGGTGTGGTTGATATGCAAACGCAGCTCGAGGCAAGTACCTGGATCTCCTTTCCTGGCAACCTACAACCTGTAAGCACCTCGAATGTATAACAGAAATCCTAGGGAAGCCATGGGGTTATGAGGGCTAAGACAATGCTATGTATTTAGAAGGATTAGCAGAGTGTCGGACACATAGAAAGTGTGCAATAGATCTTAACTTTTTAAATTGCTACCTCAGAGAAGTAGATAAAGTAAAAGAAAAATATCCTTCCTCCCCGCAAAGGTGAACTCCTCAGAAGTAGCCACTAAATAGTTCATTAATAGTTGTATCTTTCCAGATTTTTCCTATTCATATACCAACATGTGTATTATTTATATTTTATATACCTCTACCTATATACCATCTATACCTATATACAAAGCTTTTTAATACAAAAACTGAATTATCCTAATCATTTGATATATCATTGTAGATCTTTTTTTTTTTTTTAACTTAAGTATATTTTCTGGGCCACTCCCCCTGTTAGAACATACAGATCT
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TACCAGAAGAAGAATTAACGGGTAGAGGGGAACTCTGATTATTTTGATATGTATTACCAAACTGCTTCCCAGGAAATTTCTACCAATCCATAGCCCCACCAGTAATATATGAAAGTGCCCATTTGCTGCTCTTACGCCAGCTCTAAATGTCATGCATTTTCATTATTGCAAATTTGATAGGCCAAAGGTAGTTATTTCATTGATTTAATTTGTATTTTATCATTAAGCTTTAACATTTTTTCTTATATTTGTTGATCGCCTATATTTTCTCTTTGGAGGCTTATCTGTTCATGTGACTCAATTTAAAAAGGACCCTCTAATACTGTGTTGACAATAAATTTTCAAACACACAAGAACATCTGGACAAAAACTGCAGAAAAAATTCAAATTAGAACCATCTTTCTGAAAGTAGTCATCACTGAAAGGGTTACTAAGAGAAGAAACTGAATCTCCACTGGAAATTAAGAAAGTAGCTATCATTTTAAGGATATTTTCAATTCTTAAAGGCAGTCAAGGGTAGGAAGAACTGTAGAATAAACCAATACTTCAGAGTAATCTGATGCTCAGGGAAGGCGTAGAAGCCCTTCTGATTCTAAACAAAAATTTATGATGAATTAATTCAAAAAGATCATTAGTGAACTATCAGCCATTCTCAGGATTCCTGGGGATTGTGTGCCTCTGTATGTGTTTTTGTACAGCGGGGAGGGGTTGCAGTAGGAAGTGACAGTGCGCAGGGTGCCCCAAGAAACTCCTCCGCTCACCAGACTTTCAGCTCCTTGATTCTCTAAACTCTTCTACTACAGATGCTGTGGTAGAGAACTACAGCAAGTGCTCATCACATGGGAATAAGTCATGCAAACATGAGGAAAAATGGTGCTAGCTGTGCTCATCAAAATGTATACTTCTAAAATAATTTGTATAATTTGCACATCTTCAAACATGGAATGTCTTCTTTCAATGGAGGAGGGTGGAATGGGGTTGGAGGGCCCATCGCATAGCCTGAGGGTTAGAGGTGACCTGAGCCCATTCAGAAGCCTGGTCAGAGGCCAGTAACCAACTGAAATGCTCCCTACATTACTATGGCAACTGGCCAATCTCAGCACCATTTTTCTATTTAATCAAGCAAATTCCATGCCCTAAGATGGTCTCATTTGATGATGTCACTACATCCTAAAAGGGAATCATAACATATATACAGGAGGCGTTTCATGATACAGACTAAAAAAATAAAGGTTTTGGTCTCAAATATTGTTTATTTTAATTTAGTGACAGCAATGATGAAGCAGCCTATTTAAGAGATAAGATGGTCATATGGTTTGGATCTGTGTCCCTGCACAAATCTCAAGTCAAATTGTAATCCACAATGTTGGGGGTGGGGCCTGGTGGGAGGTGATTGGATCGTGGGGGTAGATCCTTCATGAATGGTTTAGCACCGTCCCTTCGGCGCTGTTCTCAGGATAGTGAATGAGTTCTCTGGAGATCTGGTTGTTTAAAAGTGTGTGGCACCCTCCCCCGTTCTCTCTTGCCCCTGGACCCTTCATTTAAGATACCTGCTCCTCCTTTGCCTTCTGCCATGATTGGAAGCTTCCTAAGGGCTCCCCAGAAGCAGAAGCCATTATGCTTCCTGTACAGCCTGTAGAACCAGGCGCCAATTAAACCTCTTTTCTTTATAAATTACTGAGTCTCAGGTATTTCTTTATAGCAATGTGAGAATGGCGGAATACAGATGGCGTGTTCACCTTAAAACATTGTGTGTCCTAATGGTGTCTATTTAATTGGTCTTCTTTGCTTTGCATTCAGAATTACCTCTTAAAGTGGTTGTTCTTAAAGTATATAATGCATTTAAAAAAAAAATAGGCAGTGGTTTTGCCATTGCTGAAAACAGTCACAGATTTATTGATAGGGGGTTGGCTTCAACAGATGAAGTAAAACATAAGTCAATAAATAAATAACCACAGTAACTCAACCAGTGGGTTATAATCATAAAAATTCAGTGTGTTCTATCATAAGGTCTTACCTGAAGAGGGGCTTCAGTCTCCATCAAAGCCTGCTCCAGTCTTTTCTTCACATCAGTAAGTGCATTTGTCTCTCCAATCATTTCATCCAACTCATGAATGATTTCAGATTTCCAAAACCCTATGTCATTGACACGTTCTCCCAGATTTTGGGTTGTGTCTGCCTGAGTTTTTCTTGTTTGTTGATATTTGTCTTGAATCAGGCGAGATGTATCCACTCTTAGTTTCTCCGAATTATGTCGGGAAGTGTTGGACTCTTGATAGTTGGTTAAATTGGACCTGTACCAGTCATCCGGTGTGTATCTTGTGAAGAAAGTGGTTCTGTTGGAAACAAAGGGAAGCATGGTATTCTCGGACACCCTCTGTGATCTGGTGCAGTACGGGGCCACGCTTGGGGAATTGGAGGCGACTTTGTAGTATGTGCTGGGTCTCCAAGGAAGGCTCAGGCTATGGGTCAAATTGGAGTGGGGAAAGCGGTCCCTGTAGCTTGAGGCCATGGTACTGATGGCTGGTAGAAAGTTGGTTGGTGTTGGTCTAGGGTGGGCGTAAGTTGTCGTTAAAGTACAACCTACACGTTCCATGATGCCAAAACACTATTTGTAAATCTCTCCTGTTAAAAAATAAAAAGTAAAATAAGACAGTCACATAAAATAATCTCTGGTGAAACATACAGATAAAAGGCCACATCTGACTTAGTATCAGTTGCAGAGGCCCCGAACACATTAGATGCTTGTTCTCATTTGTTATCCACATTCACCATTGATAATATATTCCAACAAAGTTTTTTTTTAATCTCTATGTCTCTAGAATGTATAAAGATCACATTTTTATTGGCCATTTGGACTTTTGAATTTTTGTGAAAATTATGAGAGTAATATTGTCTTGTTGTAACAAATTCAAATTAGGAGCCTAAACTATGCATCTTAACGGATAGGGATTCAAAATAGATTTCTCACTTGAAGTCAGGAGTTCGAGACCAGCCTAGCCAACAAGACGAAATGTCGTCTCTGTTAAAAATACAAAAATTAGCCAGCTGTTGTGGCAGGCACCTGTAATCCCATCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGTGGCGGGGGTGGGGGGCAGATAGATTGCAATGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCTACAGAGAGACTCCGTCTAAAAAATAAATAAATAAATAAATAGATTTCCGTCTCAAACCATGATAGACTAATAAAAACTAGACTTAGCCTCTTATATCTAAAAATCTAGACAAGAAACTACTGATTTCAGACATTGGACAATGGACAGCACAGGACTCTGAGCCATGAGAAAAGAGAAACAAGGTGAGCCCACCTATTTATTAGCTATGTGACACTGGGTAAATTACTTAACCTCTCTGTGCCTCGGTTGCTTCACTTAGAAATAATAGGGAATAATAATAGCACTTCCTTCTTTGGACTGTTGTGAGCAGTGGTAGCAGCAGGGAATTGCTTGGCAACTCCCCGCCCCTGCCCCCACAAGTCATCCTAAATAAACACTCCATCTGGATGACAATGGTGTGGTTGATATGCAAACGCAGCTCGAGGCAAGTACCTGGATCTCCTTTCCTGGCAACCTACAACCTGTAAGCACCTCGAATGTATAACAGAAATCCTAGGGAAGCCATGGGGTTATGAGGGCTAAGACAATGCTATGTATTTAGAAGGATTAGCAGAGTGTCGGACACATAGAAAGTGTGCAATAGATCTTAACTTTTTAAATTGCTACCTCAGAGAAGTAGATAAAGTAAAAGAAAAATATCCTTCCTCCCCGCAAAGGTGAACTCCTCAGAAGTAGCCACTAAATAGTTCATTAATAGTTGTATCTTTCCAGATTTTTCCTATTCATATACCAACATGTGTATTATTTATATTTTATATACCTCTACCTATATACCATCTATACCTATATACAAAGCTTTTTAATACAAAAACTGAATTATCCTAATCATTTGATATATCATTGTAGATCTTTTTTTTTTTTTTAACTTAAGTATATTTTCTGGGCCACTCCCCCTGTTAGAACATACAGATCT
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Task1_train_23841
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This mutation is located in gene FLCN (folliculin) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; not provided
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GCTGCTCCGATGCCAATGCAGTCACTTGTGAGACAAAAGGTAAACTGCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTTCAGCACACTCAGGGGAAGAGGCCTACAGAACAAGGACTCCCAGCCCAGATCTGTGCTCACTGACAAGTGCCCACAGGCCAGTGCTCCTCACAGAGGCAGCAAGCAAACACGGCTAAGGACTGTTCTCCCAAATCCATGGACAAGCCAACCAATGTATCGTGACTGCTCTATCCTAACAGATATGCCAAAAGCAGAGACGCCCGTTACCAGGCAAAGGAGGTGTGCAGGCACGCCCACAGGTTGTCATCACTTGTCAGCGATGTCAGCGAGCGGGCGGCGTTGCCGTTCCTCTGGTGTAGGAATGGCGTGAAGGCTGTGTTCATCCTCTGAGCACGCTGTGGGCATCCAAACTGCTCTGCCTCAAACACCTGAAATGCAAAGGGAAGGGATGGCCTCTTTAAGCCAAAGCTGCCAGCAGCTCGGACCCCTACTCGTTCACAGCCAACTCCAGGACCTGACTCCTGGAGGATCAGTCCCACTATACTCTCTCCATGCAGAGCACACAAAGTGCCACCAGTCCAATCATTCCCAACAGCATAGCTCTGCCCCGGCTACATCAGGAGCTATCCGAGAACAGAAATCGGTTGAGCTTCTCCTGTCCCCTTCCTAATGAGTGACCCAAGGCACCCAGGGGGATTCTCGTGAGTGGCCATCTGCGCTGCTCCCCACCTGTCTCCACCTCCCCTTCTGGGTGCACTACTTGGCTAAGGCACACGTGACTGGCTCTGGTCAATGAGCTGAGACAAACAAGGCCCTCAGCACCATCTGTGCTTCTGGAGGGCAGAAGGAGCAACATTTTTTCCTTTCTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTACAACCTCTGCCTCATGGGTTCAAGCGTTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTCTGGAAGAGACGGGGTTTCTCCATGTTGGTCAAGCTGGTCTCAAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTAGGGGAAGCATTTTCATATGGCTGCCGCTCTGCCTGCCAGGACGACCACAGCAAGCAGAGCCCCACTCTCCTGCAATGCACACACCATGAGTAAGAAACAGGCCCTATGGCTTGAAGGTGCTGAGATCCGAGGCTGTTACCAGAGCACGACCTGGCCTGGCCTGGCCTGAGCTGCATCTCCACAGCTGGAGGCCTACATTCGGTGGTGCAACTCAATGGGATTAACAGACATCCCTGAGATGAAGGCCAGAGGAAACAAAGACACCAGGGGTCTGACTGCAGCAAAGAAACCAGAGCTGAGCGAGAACCAGGACAACGGGCACAAGAGAGACCAGCAAAGCAGGCGGGATGGCCTGGGAGGCTCCTCACGACCTCCAGCTCTGAAGCCAAGAGACTACAATTCACACAGTGCACTGGCTGTAAGCAGAGGGGAAGACGCCACGCGGTCTCCAGGCCTCAACCTCAGCACAGAGCGGCTCATGCAGTGCAGGGCCCCCTGCCGCCCCGGCACCTCATCTCTGAATTCACCTTGAGCGCCTTGCCCTGGAGCTCATCGATGATTCCCCGGACCTTCCCCAGCAGGAAGGGCCAGGAGTTGATGAGGTAGATCCGGTCCATCATGATGGTGATGATGCTGTACCAGCGCTGGAAGCCCCTGGCCAGGCTGTCCTTGATGAAGAAGGTGTGGCTGAACACAAAGCCGTGCTGCTCATCTCCGAAGAAGATGGGGCCTTCACGGCCAGGGCAGACCTGGAGGGACACCGGCGACTCAGACAGCCCTTTCCTCGCTTAGTGACACCAAATCAAAGCCTCTTCTTCAGACTTTTCAGAGTCAGCTGGCACAAATCAGCCAGCGTTAATAACGGGGAGAGTGGCACAGTGGGGGCCATGAGAGCCGAAGACTGTACTCTTCTGCTCCTGTGATCAAGCTTCCAACAACACTTGTCATTGTGGACTGCAAGGGCCGGTAACAAGGCTTATTGCTTTTCTTCCACCTTGAGCCATAAATAACTCCCATGCATATGTCACACCTCTCCCAGACTCAAATGTACCAGCTTACTCACCTGGAGCATGCAGAAGAACCAGCAGGTCAGAGCAGCCACTGCACTCTCCCTGCACTGAAATCCGCACATTTTATTCTTTCTTTCTTTCTTTATTTGAGATGGAGTCTCGCTCTTGTCACCCAGGCTGGAATGCAGTGGTGTGATCCTGGCCCACTGCAACCTCCGTCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGTAAGAGTGTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTTTTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCGGCCTTGGCCTCCCAAAGGGCTGGGATTACAGGAGTGGGCCACCATGCCCAGCCCCACGTACTTTATTCTTATAAGAGGATTTCAGTCCCTCCTCATTACATACTTACTCTTCCTTAACACACAATTCTAACAGACATGCCGAGCTGCCTGCTAGCAGACCAGCGGTAGGAAATTAAAAGGAGAGGACAGTTGAGGGCAGGCACACAGCCACACTGAATGAGAACAGTAAGGGAGCTTGGTGTGTCGAACTGGGTGGACACCAATGACAAGGAAGTTTAGTAACTGAACGACGAATTCTTTGTAACAAAGACCTGAGCTCAGAGTCAAGAGCAACAGCAGCAGCGACGTAGTTTAGGAAGAAATCATCCACACCTCAGCAGGCTGAGAGCAGCACGGGATCATCACTGAGACTTGGAATGAGGACTGAGATAATAAAAAAAGGTGATGTTGATGCAATGAACCACCTAACCTAGAAATGCTTCCTATCTTAGGAATACATCCATCAAGAATAGACACACATGGCTGGGCATGGCGGCTCACACCTGTAATCCTAGTGCTTTGGGAGGATGAGCCAGAGGATTGCTTGAGTTCGAGACCAACCTGGGCAACATACTGAGACCTCATCTCTACAAAAAAATTTTAAAAAGGTGGGGCACAGTGGCTCCCACCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCAAATCACAAGGTCAGGAGTTCAAGACCAGCTCGGCCAACATGGTGAAATCTCTTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCACACGCCTGTTGTCCCAGCTACTCAGGATAGCTGAGACAGAAGAATCACTTAAACCCAGGGTGGAGGTTGCAGTAAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAACCGAGTGAGACTCTGTCTTAACAACAACAAAAAACAAACCCCAGTTGAGCATGGTGGCACACACCAGTGGTCCCAGCCACCTGGGAGGCTAAGGCGGGAGGATCGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAACCATGACGGCACCACTGCACTCCAGTCTGGACGACAGAGCGAGACCCTGACACAAAAGAAGGAAAAAAGAAAACAATAATAATAAAGAAAGGACAAATAATAAAAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGC
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GCTGCTCCGATGCCAATGCAGTCACTTGTGAGACAAAAGGTAAACTGCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTTCAGCACACTCAGGGGAAGAGGCCTACAGAACAAGGACTCCCAGCCCAGATCTGTGCTCACTGACAAGTGCCCACAGGCCAGTGCTCCTCACAGAGGCAGCAAGCAAACACGGCTAAGGACTGTTCTCCCAAATCCATGGACAAGCCAACCAATGTATCGTGACTGCTCTATCCTAACAGATATGCCAAAAGCAGAGACGCCCGTTACCAGGCAAAGGAGGTGTGCAGGCACGCCCACAGGTTGTCATCACTTGTCAGCGATGTCAGCGAGCGGGCGGCGTTGCCGTTCCTCTGGTGTAGGAATGGCGTGAAGGCTGTGTTCATCCTCTGAGCACGCTGTGGGCATCCAAACTGCTCTGCCTCAAACACCTGAAATGCAAAGGGAAGGGATGGCCTCTTTAAGCCAAAGCTGCCAGCAGCTCGGACCCCTACTCGTTCACAGCCAACTCCAGGACCTGACTCCTGGAGGATCAGTCCCACTATACTCTCTCCATGCAGAGCACACAAAGTGCCACCAGTCCAATCATTCCCAACAGCATAGCTCTGCCCCGGCTACATCAGGAGCTATCCGAGAACAGAAATCGGTTGAGCTTCTCCTGTCCCCTTCCTAATGAGTGACCCAAGGCACCCAGGGGGATTCTCGTGAGTGGCCATCTGCGCTGCTCCCCACCTGTCTCCACCTCCCCTTCTGGGTGCACTACTTGGCTAAGGCACACGTGACTGGCTCTGGTCAATGAGCTGAGACAAACAAGGCCCTCAGCACCATCTGTGCTTCTGGAGGGCAGAAGGAGCAACATTTTTTCCTTTCTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTACAACCTCTGCCTCATGGGTTCAAGCGTTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTCTGGAAGAGACGGGGTTTCTCCATGTTGGTCAAGCTGGTCTCAAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTAGGGGAAGCATTTTCATATGGCTGCCGCTCTGCCTGCCAGGACGACCACAGCAAGCAGAGCCCCACTCTCCTGCAATGCACACACCATGAGTAAGAAACAGGCCCTATGGCTTGAAGGTGCTGAGATCCGAGGCTGTTACCAGAGCACGACCTGGCCTGGCCTGGCCTGAGCTGCATCTCCACAGCTGGAGGCCTACATTCGGTGGTGCAACTCAATGGGATTAACAGACATCCCTGAGATGAAGGCCAGAGGAAACAAAGACACCAGGGGTCTGACTGCAGCAAAGAAACCAGAGCTGAGCGAGAACCAGGACAACGGGCACAAGAGAGACCAGCAAAGCAGGCGGGATGGCCTGGGAGGCTCCTCACGACCTCCAGCTCTGAAGCCAAGAGACTACAATTCACACAGTGCACTGGCTGTAAGCAGAGGGGAAGACGCCACGCGGTCTCCAGGCCTCAACCTCAGCACAGAGCGGCTCATGCAGTGCAGGGCCCCCTGCCGCCCCGGCACCTCATCTCTGAATTCACCTTGAGCGACTTGCCCTGGAGCTCATCGATGATTCCCCGGACCTTCCCCAGCAGGAAGGGCCAGGAGTTGATGAGGTAGATCCGGTCCATCATGATGGTGATGATGCTGTACCAGCGCTGGAAGCCCCTGGCCAGGCTGTCCTTGATGAAGAAGGTGTGGCTGAACACAAAGCCGTGCTGCTCATCTCCGAAGAAGATGGGGCCTTCACGGCCAGGGCAGACCTGGAGGGACACCGGCGACTCAGACAGCCCTTTCCTCGCTTAGTGACACCAAATCAAAGCCTCTTCTTCAGACTTTTCAGAGTCAGCTGGCACAAATCAGCCAGCGTTAATAACGGGGAGAGTGGCACAGTGGGGGCCATGAGAGCCGAAGACTGTACTCTTCTGCTCCTGTGATCAAGCTTCCAACAACACTTGTCATTGTGGACTGCAAGGGCCGGTAACAAGGCTTATTGCTTTTCTTCCACCTTGAGCCATAAATAACTCCCATGCATATGTCACACCTCTCCCAGACTCAAATGTACCAGCTTACTCACCTGGAGCATGCAGAAGAACCAGCAGGTCAGAGCAGCCACTGCACTCTCCCTGCACTGAAATCCGCACATTTTATTCTTTCTTTCTTTCTTTATTTGAGATGGAGTCTCGCTCTTGTCACCCAGGCTGGAATGCAGTGGTGTGATCCTGGCCCACTGCAACCTCCGTCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGTAAGAGTGTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTTTTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCGGCCTTGGCCTCCCAAAGGGCTGGGATTACAGGAGTGGGCCACCATGCCCAGCCCCACGTACTTTATTCTTATAAGAGGATTTCAGTCCCTCCTCATTACATACTTACTCTTCCTTAACACACAATTCTAACAGACATGCCGAGCTGCCTGCTAGCAGACCAGCGGTAGGAAATTAAAAGGAGAGGACAGTTGAGGGCAGGCACACAGCCACACTGAATGAGAACAGTAAGGGAGCTTGGTGTGTCGAACTGGGTGGACACCAATGACAAGGAAGTTTAGTAACTGAACGACGAATTCTTTGTAACAAAGACCTGAGCTCAGAGTCAAGAGCAACAGCAGCAGCGACGTAGTTTAGGAAGAAATCATCCACACCTCAGCAGGCTGAGAGCAGCACGGGATCATCACTGAGACTTGGAATGAGGACTGAGATAATAAAAAAAGGTGATGTTGATGCAATGAACCACCTAACCTAGAAATGCTTCCTATCTTAGGAATACATCCATCAAGAATAGACACACATGGCTGGGCATGGCGGCTCACACCTGTAATCCTAGTGCTTTGGGAGGATGAGCCAGAGGATTGCTTGAGTTCGAGACCAACCTGGGCAACATACTGAGACCTCATCTCTACAAAAAAATTTTAAAAAGGTGGGGCACAGTGGCTCCCACCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCAAATCACAAGGTCAGGAGTTCAAGACCAGCTCGGCCAACATGGTGAAATCTCTTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCACACGCCTGTTGTCCCAGCTACTCAGGATAGCTGAGACAGAAGAATCACTTAAACCCAGGGTGGAGGTTGCAGTAAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAACCGAGTGAGACTCTGTCTTAACAACAACAAAAAACAAACCCCAGTTGAGCATGGTGGCACACACCAGTGGTCCCAGCCACCTGGGAGGCTAAGGCGGGAGGATCGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAACCATGACGGCACCACTGCACTCCAGTCTGGACGACAGAGCGAGACCCTGACACAAAAGAAGGAAAAAAGAAAACAATAATAATAAAGAAAGGACAAATAATAAAAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGC
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Task1_train_23842
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This genomic variant is located on Chromosome 17, within the RAI1 (retinoic acid induced 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Smith-Magenis syndrome
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CAGCCCCGAGCAGAGGCCTGGCATGCAGGACCCGCTGTCACCCAAGGCCCCACTCATCTGCACCAAGGAGGAGGTGGAGGAGGTGCTGGACTCCAAGGCCGGCTGGGGCTCTCCGTGCCACCTCTCAGGGGAGTCCGTCATCCTGCTGGGCCCTACAGTGGGCACCGAGTCAAAGGTCCAGAGCTGGTTTGAGTCCTCTCTGTCACACATGAAGCCAGGTGAAGAGGGGCCTGATGGGGAGCGAGCTCCAGGGGATTCCACCACCTCGGACGCCTCTCTGGCCCAGAAGCCCAACAAGCCTGCTGTGCCCGAGGCGCCCATCGCAAAGAAAGAGCCTGTGCCACGGGGCAAAAGCTTACGGAGCCGTCGGGTGCACCGGGGGCTGCCCGAGGCCGAGGACTCCCCATGCAGGGCACCAGTGCTGCCCAAAGACCTCTTGCTCCCTGAATCCTGCACAGGGCCCCCCCAGGGACAGATGGAAGGGGCTGGAGCCCCAGGCCGGGGGGCCTCGGAAGGGCTCCCCAGGATGTGTACTCGTTCTCTCACGGCCCTGAGTGAGCCCCGCACGCCCGGACCCCCAGGCCTGACCACCACCCCTGCACCCCCAGACAAACTGGGGGGCAAGCAGCGAGCCGCCTTCAAGTCGGGCAAGCGGGTGGGGAAGCCCTCACCCAAGGCTGCCTCCAGCCCCAGCAACCCGGCCGCCCTGCCTGTGGCCTCCGACAGCAGCCCGATGGGCTCCAAGACCAAGGAGACAGACTCACCCAGCACGCCTGGCAAGGACCAGCGCTCCATGATCCTTCGGTCACGCACCAAAACCCAGGAGATCTTCCACTCCAAGCGGCGGAGGCCCTCTGAGGGCCGGCTCCCCAACTGCCGTGCCACCAAGAAGCTCCTCGACAACAGCCACTTGCCCGCCACATTCAAGGTCTCCAGCAGCCCCCAGAAGGAGGGCAGGGTGAGCCAGCGGGCAAGGGTCCCCAAACCTGGTGCAGGCAGCAAGCTCTCTGACCGGCCCCTCCATGCGCTCAAAAGGAAGTCGGCCTTCATGGCGCCGGTCCCCACCAAGAAGCGGAACCTGGTCTTGCGGAGCCGCAGCAGCAGCAGCAGCAACGCCAGTGGCAATGGGGGAGATGGGAAGGAGGAGAGGCCTGAGGGTTCCCCCACCCTCTTCAAGAGGATGTCTTCTCCCAAGAAAGCCAAGCCCACCAAGGGCAATGGCGAGCCTGCCACAAAGCTCCCACCCCCGGAGACCCCCGATGCCTGCCTCAAGCTCGCCTCTCGGGCAGCCTTCCAGGGGGCCATGAAGACCAAGGTGCTGCCACCCCGGAAGGGCCGGGGCCTGAAGCTGGAAGCCATCGTGCAGAAGATCACCTCGCCCAGCCTCAAGAAGTTCGCATGTAAAGCGCCAGGGGCCTCTCCTGGTAATCCTCTGAGCCCATCCCTTTCCGACAAAGACCGTGGGCTCAAGGGTGCTGGGGGCAGCCCAGTGGGGGTGGAAGAAGGCCTGGTAAATGTGGGCACCGGGCAGAAGCTCCCAACTTCTGGGGCTGATCCGTTATGCAGAAATCCAACCAACAGATCCTTAAAAGGCAAACTCATGAACAGTAAGAAACTGTCTTCTACTGACTGTTTCAAAACCGAGGCCTTCACATCCCCGGAGGCCCTGCAGCCTGGGGGGACTGCCCTGGCGCCTAAGAAGAGGAGCCGGAAAGGCCGGGCAGGGGCCCATGGACTCTCCAAAGGCCCGCTGGAGAAGCGGCCCTATCTTGGCCCGGCTCTGCTCCTGACTCCCCGAGACAGGGCCAGTGGCACACAAGGGGCCAGTGAGGACAACTCTGGTGGAGGAGGCAAGAAGCCAAAGATGGAGGAGCTGGGCCTGGCCTCCCAGCCCCCGGAGGGCAGGCCCTGCCAGCCCCAGACAAGGGCACAGAAACAGCCAGGCCACACCAACTACAGCAGCTATTCCAAGCGGAAGCGCCTCACTCGGGGCCGGGCCAAGAACACCACCTCTTCACCCTGTAAGGGGCGTGCCAAGCGACGACGACAGCAGCAGGTGCTGCCCCTGGATCCCGCAGAGCCTGAAATCCGCCTCAAGTACATTTCCTCTTGCAAGCGGCTGAGGTCAGACAGCCGGACCCCCGCCTTCTCACCCTTCGTGCGGGTGGAGAAGCGAGACGCGTTCACCACCATATGCACTGTTGTCAACTCCCCTGGAGATGCGCCCAAGCCCCACAGGAAGCCTTCCTCCTCTGCCTCCTCTTCCTCATCCTCGTCCTCGTTCTCCTTGGATGCAGCCGGGGCCTCCCTGGCCACACTCCCTGGAGGCTCCATCCTGCAGCCGCGGCCCTCCTTGCCCCTCTCCTCCACGATGCACTTGGGGCCTGTGGTTTCCAAGGCCCTGAGTACCTCTTGCCTTGTTTGCTGCCTCTGCCAAAACCCGGCCAACTTCAAGGACCTTGGGGACCTCTGTGGGCCCTACTACCCTGAACACTGCCTCCCCAAAAAGAAGCCAAAACTCAAGGAGAAGGTGCGGCCAGAAGGCACCTGTGAGGAGGCCTCGCTGCCGCTTGAGAGAACACTCAAAGGTCCCGAGTGTGCAGCTGCCGCCACTGCCGGGAAGCCCCCCAGGCCTGACGGCCCAGCTGACCCGGCCAAGCAGGGCCCACTGCGCACCAGTGCCCGGGGCCTGTCCCGGAGGCTGCAGAGCTGCTACTGCTGTGATGGCCGGGAGGATGGGGGCGAGGAGGCAGCCCCAGCCGACAAGGGTCGCAAACATGAGTGCAGCAAGGAGGCTCCGGCAGAGCCCGGCGGGGAGGCCCAGGAGCACTGGGTGCATGAGGCCTGTGCCGTGTGGACCGGCGGCGTCTACCTGGTGGCCGGGAAGCTCTTTGGGCTGCAGGAGGCCATGAAGGTGGCCGTGGACATGGTAAGAGGCCAGCCCAGCCAGGGTGGGGAGTGTGGGGTTCCAAAGGACAGGCAGGCAGGCAGTCGGGGAGCCCCTTGTTTCTAGTGCTACAGTGTGGGCCAAATGTGTCTGCAGTCTCGGGACAATCTGCAGAGTCCTGAGCCTCTCTGGGGTGTGTGGGGGAAGTGGAGGCACCCATCTGGCTAAGGCAGGTCACACTCACCTACCCTGTCCCAGGAGACTTCCCGCCGGGGCCCGTATGCCCAGCCACCGCCACTCTCCCACTCACCTGGCATCTTCAGGCTCCAGCCCCACCCAGAATCCACTGGGCCCCTCCCCATGCTGTCACCGGAGATGCCAAGGCCCAGAGAACACGAGGACTCCCAAGATTGAACATCAGGGCTGCCCCGGGCGGTGCAAGAGCAAGTTGCCCACCCTCTGTTCCTGTCTCCATTGCCTCTGGGATGAAGCTAAGGGCTCAGGAAGACCCTCTCTGGCGACACAGGCTTGGTGCATGGACCCAGTCACAGGGTTCCTCCCTCTGCAGGACAGTCCATGGGGTCACACAGTCACAACAGGCAGGGCGGGGCAGATCCAGACCCTCTCACCATTGGCTCTGAGACCAGCTTTGGAAGCCATAGTCACTGAGCACCAACATGAGAGAGGGAACTCTGGGGCTGTGCCGCCATGCACCTTTGGGGCTGTGACCTGCCCTCTCTGTGCCTCCGTCCCCTCGCCCCTAACGTGGGTATGAGGGTGCCCATGGAGGAGGGGTCGGGAGGGTTAAAAGGTGGGCACCTCTGAGCCCACCGAGCACAGCAGCCCTGTGATAGTCAGTGCAGAGGGGCCTGGTGGCTCTGGTGACAGCAGGGTGACGTTCTTCGTGGTGTCACCACTTCCCCAGTACCATAGAGTACCTCTGTGCCCTTCTGAGGGAGGGGTCAGTGGGGGCGGTGGGGTGCACCTCTCCCCCGGGGCCATGCTTCTGCCCCCACATTCAACCCCGACTCCACTGCCTCATCCAGACTTCCGTGGAGTGACGCTCCCGGCTCTCAGCGCTGTGTGGTGGCTCTCAGTGGGGACGCCTGCAGCCTTCTCTGGCCCCTGCCCTGAGTCCCATCCCCTCCACTCCTTCCTTCAACCCACTATGTGCGGCTGAGGTCACAGGGGAGCCAGAGGGGCTTGGCA
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CAGCCCCGAGCAGAGGCCTGGCATGCAGGACCCGCTGTCACCCAAGGCCCCACTCATCTGCACCAAGGAGGAGGTGGAGGAGGTGCTGGACTCCAAGGCCGGCTGGGGCTCTCCGTGCCACCTCTCAGGGGAGTCCGTCATCCTGCTGGGCCCTACAGTGGGCACCGAGTCAAAGGTCCAGAGCTGGTTTGAGTCCTCTCTGTCACACATGAAGCCAGGTGAAGAGGGGCCTGATGGGGAGCGAGCTCCAGGGGATTCCACCACCTCGGACGCCTCTCTGGCCCAGAAGCCCAACAAGCCTGCTGTGCCCGAGGCGCCCATCGCAAAGAAAGAGCCTGTGCCACGGGGCAAAAGCTTACGGAGCCGTCGGGTGCACCGGGGGCTGCCCGAGGCCGAGGACTCCCCATGCAGGGCACCAGTGCTGCCCAAAGACCTCTTGCTCCCTGAATCCTGCACAGGGCCCCCCCAGGGACAGATGGAAGGGGCTGGAGCCCCAGGCCGGGGGGCCTCGGAAGGGCTCCCCAGGATGTGTACTCGTTCTCTCACGGCCCTGAGTGAGCCCCGCACGCCCGGACCCCCAGGCCTGACCACCACCCCTGCACCCCCAGACAAACTGGGGGGCAAGCAGCGAGCCGCCTTCAAGTCGGGCAAGCGGGTGGGGAAGCCCTCACCCAAGGCTGCCTCCAGCCCCAGCAACCCGGCCGCCCTGCCTGTGGCCTCCGACAGCAGCCCGATGGGCTCCAAGACCAAGGAGACAGACTCACCCAGCACGCCTGGCAAGGACCAGCGCTCCATGATCCTTCGGTCACGCACCAAAACCCAGGAGATCTTCCACTCCAAGCGGCGGAGGCCCTCTGAGGGCCGGCTCCCCAACTGCCGTGCCACCAAGAAGCTCCTCGACAACAGCCACTTGCCCGCCACATTCAAGGTCTCCAGCAGCCCCCAGAAGGAGGGCAGGGTGAGCCAGCGGGCAAGGGTCCCCAAACCTGGTGCAGGCAGCAAGCTCTCTGACCGGCCCCTCCATGCGCTCAAAAGGAAGTCGGCCTTCATGGCGCCGGTCCCCACCAAGAAGCGGAACCTGGTCTTGCGGAGCCGCAGCAGCAGCAGCAGCAACGCCAGTGGCAATGGGGGAGATGGGAAGGAGGAGAGGCCTGAGGGTTCCCCCACCCTCTTCAAGAGGATGTCTTCTCCCAAGAAAGCCAAGCCCACCAAGGGCAATGGCGAGCCTGCCACAAAGCTCCCACCCCCGGAGACCCCCGATGCCTGCCTCAAGCTCGCCTCTCGGGCAGCCTTCCAGGGGGCCATGAAGACCAAGGTGCTGCCACCCCGGAAGGGCCGGGGCCTGAAGCTGGAAGCCATCGTGCAGAAGATCACCTCGCCCAGCCTCAAGAAGTTCGCATGTAAAGCGCCAGGGGCCTCTCCTGGTAATCCTCTGAGCCCATCCCTTTCCGACAAAGACCGTGGGCTCAAGGGTGCTGGGGGCAGCCCAGTGGGGGTGGAAGAAGGCCTGGTAAATGTGGGCACCGGGCAGAAGCTCCCAACTTCTGGGGCTGATCCGTTATGCAGAAATCCAACCAACAGATCCTTAAAAGGCAAACTCATGAACAGTAAGAAACTGTCTTCTACTGACTGTTTCAAAACCGAGGCCTTCACATCCCCGGAGGCCCTGCAGCCTGGGGGGACTGCCCTGGCGCCTAAGAAGAGGAGCCGGAAAGGCCGGGCAGGGGCCCATGGACTCTCCAAAGGCCCGCTGGAGAAGCGGCCCTATCTTGGCCCGGCTCTGCTCCTGACTCCCCGAGACAGGGCCAGTGGCACACAAGGGGCCAGTGAGGACAACTCTGGTGGAGGAGGCAAGAAGCCAAAGATGGAGGAGCTGGGCCTGGCCTCCCAGCCCCCGGAGGGCAGGCCCTGCCAGCCCCAGACAAGGGCACAGAAACAGCCAGGCCACACCAACTACAGCAGCTATTCCAAGCGGAAGCGCCTCACTCGGGGCCGGGCCAAGAACACCACCTCTTCACCCTGTAAGGGGCGTGCCAAGCGACGACGACGGCAGCAGGTGCTGCCCCTGGATCCCGCAGAGCCTGAAATCCGCCTCAAGTACATTTCCTCTTGCAAGCGGCTGAGGTCAGACAGCCGGACCCCCGCCTTCTCACCCTTCGTGCGGGTGGAGAAGCGAGACGCGTTCACCACCATATGCACTGTTGTCAACTCCCCTGGAGATGCGCCCAAGCCCCACAGGAAGCCTTCCTCCTCTGCCTCCTCTTCCTCATCCTCGTCCTCGTTCTCCTTGGATGCAGCCGGGGCCTCCCTGGCCACACTCCCTGGAGGCTCCATCCTGCAGCCGCGGCCCTCCTTGCCCCTCTCCTCCACGATGCACTTGGGGCCTGTGGTTTCCAAGGCCCTGAGTACCTCTTGCCTTGTTTGCTGCCTCTGCCAAAACCCGGCCAACTTCAAGGACCTTGGGGACCTCTGTGGGCCCTACTACCCTGAACACTGCCTCCCCAAAAAGAAGCCAAAACTCAAGGAGAAGGTGCGGCCAGAAGGCACCTGTGAGGAGGCCTCGCTGCCGCTTGAGAGAACACTCAAAGGTCCCGAGTGTGCAGCTGCCGCCACTGCCGGGAAGCCCCCCAGGCCTGACGGCCCAGCTGACCCGGCCAAGCAGGGCCCACTGCGCACCAGTGCCCGGGGCCTGTCCCGGAGGCTGCAGAGCTGCTACTGCTGTGATGGCCGGGAGGATGGGGGCGAGGAGGCAGCCCCAGCCGACAAGGGTCGCAAACATGAGTGCAGCAAGGAGGCTCCGGCAGAGCCCGGCGGGGAGGCCCAGGAGCACTGGGTGCATGAGGCCTGTGCCGTGTGGACCGGCGGCGTCTACCTGGTGGCCGGGAAGCTCTTTGGGCTGCAGGAGGCCATGAAGGTGGCCGTGGACATGGTAAGAGGCCAGCCCAGCCAGGGTGGGGAGTGTGGGGTTCCAAAGGACAGGCAGGCAGGCAGTCGGGGAGCCCCTTGTTTCTAGTGCTACAGTGTGGGCCAAATGTGTCTGCAGTCTCGGGACAATCTGCAGAGTCCTGAGCCTCTCTGGGGTGTGTGGGGGAAGTGGAGGCACCCATCTGGCTAAGGCAGGTCACACTCACCTACCCTGTCCCAGGAGACTTCCCGCCGGGGCCCGTATGCCCAGCCACCGCCACTCTCCCACTCACCTGGCATCTTCAGGCTCCAGCCCCACCCAGAATCCACTGGGCCCCTCCCCATGCTGTCACCGGAGATGCCAAGGCCCAGAGAACACGAGGACTCCCAAGATTGAACATCAGGGCTGCCCCGGGCGGTGCAAGAGCAAGTTGCCCACCCTCTGTTCCTGTCTCCATTGCCTCTGGGATGAAGCTAAGGGCTCAGGAAGACCCTCTCTGGCGACACAGGCTTGGTGCATGGACCCAGTCACAGGGTTCCTCCCTCTGCAGGACAGTCCATGGGGTCACACAGTCACAACAGGCAGGGCGGGGCAGATCCAGACCCTCTCACCATTGGCTCTGAGACCAGCTTTGGAAGCCATAGTCACTGAGCACCAACATGAGAGAGGGAACTCTGGGGCTGTGCCGCCATGCACCTTTGGGGCTGTGACCTGCCCTCTCTGTGCCTCCGTCCCCTCGCCCCTAACGTGGGTATGAGGGTGCCCATGGAGGAGGGGTCGGGAGGGTTAAAAGGTGGGCACCTCTGAGCCCACCGAGCACAGCAGCCCTGTGATAGTCAGTGCAGAGGGGCCTGGTGGCTCTGGTGACAGCAGGGTGACGTTCTTCGTGGTGTCACCACTTCCCCAGTACCATAGAGTACCTCTGTGCCCTTCTGAGGGAGGGGTCAGTGGGGGCGGTGGGGTGCACCTCTCCCCCGGGGCCATGCTTCTGCCCCCACATTCAACCCCGACTCCACTGCCTCATCCAGACTTCCGTGGAGTGACGCTCCCGGCTCTCAGCGCTGTGTGGTGGCTCTCAGTGGGGACGCCTGCAGCCTTCTCTGGCCCCTGCCCTGAGTCCCATCCCCTCCACTCCTTCCTTCAACCCACTATGTGCGGCTGAGGTCACAGGGGAGCCAGAGGGGCTTGGCA
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Task1_train_23843
|
This variant lies on Chromosome 17 and affects the gene SREBF1 (sterol regulatory element binding transcription factor 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; IFAP syndrome 1, with or without BRESHECK syndrome
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CCCCATCAGCTGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCTTCCAAAGGAAAACCGACTTGAGAAGATGCCATTGTTGGCTCCGCTTCCTTACTCCACAGCGGCACTGCCTGGGGTCACTTCTCCAATTAGCCATCTGCCCATCAATCCCTGCATGTGCTTCTGAAAGCCCCAATGGGAACGAGAGGCACCCAGGCCTTTCCCTTCCTGCAACCCCCACAGCAACAACCCATGGCAGGGAGAAGGACTGGGGTGGCCAGAGACAGCCAGAGATTCAGGCGACAAGGGACAGGACAGGAATGAGGATGAGGGACAGGAGAGGGGACAGGGAAGGGGTAAGAGAGCACCTGGGTTCCCGGCCAAGCTGTACAGGCTCTCCCATGGGGTACTGAGCACGGACCAGTCCCCATCCACGAAGAAACGGTGGCCCACGGGGTGGCAGAGCCACTGCATGGCAGGAGGCACTGAGCCACTCTGTGCCAGGCAGGCCTGGCGGGCACTGCTCAGGAAGAAGCGCTGTAGGGGAGGGTACTGGGCTGTCACAGTGGACACAGCCTGGGGCCAGACCCCGGGCCGAGTCCCAGCTTGGCCTGGAGTCCCCCTGGTAACCACTGCCACATCCCGTGTAGCTCTTACCCAGGGAGCCTCTGGAGAGAGCTGCAGGGATAAGCCCCCAGCCCCCCAACCCACTCACTGTCAGAAAATGCAAGGCCCGTGGGAGACTGGTCTTCACTCTCAATGCAGCCGCCACATAGATCTCGGCCAGCGTCGCCACAGACACGGCATCCCCTGCACACTCTGCCAGGTTCAGGGCACTCAGCGCCAGGTTGGTGGCAGTGAGGTGCCCGCCTGTGTGCTTCCCTGGAAGGCAAGCAGGCATGAGGCTGTGGGTGGAGCACAGGCAGCAGGGAGCACCTCGGAGCCCGCCCCACGCTCAGTCCTACCCATGGTGTGCAGCTGGTGCAGCTTATGGTAGACCAGGGCTGCGTCTCGGGCGCTGGCGCTAGCATCCACTCGCAGAGCACAGTCCTGCTGCAGGCCCCCTGCCCGGCCTGCCAGCCAGCGGCCCACCCAGAGACGCTGCAGCAGGTGACGGATGAGGTTCCAGAGGAGGCTACAAGCCAGGTCCAGGTGGGAGGTGGGCAGGGGCCGGCCCAGTGCCCGCAGGGCCAGCCACAGCTGCTGGGCAGCCTGGGCAAAGTCTCCCTGTGGATGAGGGTTTTCCAGGTGAGAAAAGTGAGGTCAGAGCAGCTGCCCCAAAGCTCAGAAGAGCCGTCCACAGCAGGCTCTGGAGGGGTGGTGGGGGTCTGCGGATGCGTGGCTAGGCACAGGGAGGACGGGACAGATTCATGGTGTGCACAGGGAGCAGGAACAAGGGTTGACACCCAGCACCTTCACAGCCTGGGGTCCCTGCCCTGCCCACTCTGCCGGGGCCAGCCCCTTACCCGGGCCAGGTCCAGGTCAGCCTGCTTGCGATGCCTCCAGAAGTACACGGCGGGGCCTGAGTGGGGCCGTGTGACTGGCTCACCGTAGACAAAGAGAAGCACCAAGGAGACGAGCACCAACAGCCCATTGAGCAGCCAGACCACTGGGGGCAGCAGCCACTGGGCCCAGCCAGGGCCATCTATGGACAGAGGGAAAGCTGGGGACACAGCTCCCAGGAAATCCAGAGCCCCAAGTTCACAAGCCTGGGGGCTCACCCCGAGTGTCCCTCCCAAAGATGCCCAGGCTGGCCGGTCCCACCTCTGCTCTCGGTGCCCAGCACGTTGCGCCCAGGGCTATGGTAGACGCTGGTGGTATCTGAGGGGCTGGGAAGCCCCCGGGCCCCCAGCAAGGAGGCCAAGGGGTTGCAGGACAGGCAGAGGAAGACGAGCGTGCACAGGGCCAGGCGGGAGCGGTCCAGCATGCCCCGGCTGTGCAGAGACGGCCGCTGCTCTGGCTTTGCCTGGTGGGGTTGGGCAGGGTGGTGAGGGCAGAATCGGAGGGACCCCAGAGAGCATGGGGCTGGGAAGGGGGGGGTCAGGATTCTGCCCACCTTACTGTGGGACCCCACGTGGCTCCAGGCCTCAGTTATTCTGTCTATGAAATGGGAGGTAGGATCTGTTAGGGTCTTCCCGGCCCTGTCATGAGGCTCAGAGGATATGGCTGGGAGTGGGGAAGGGGGCACCGTGGCAGGGCCCAACCTTGCTGTCCTCAAAGACTGGGCTGTCAGGCTCCGAGTCACTGCCACTGCCACCGCTGCCACTGCCCCTGCTGCCAAGGGACAAGGGGCTGCTCTGGAAAGGTGAGCCAGCATCCGAGGGGGGTGGGGTCAGTGTGTCCTCCACCTCAGTCTTCACGCCCTCCATGAGCACGTCTGTGTTCCCTCCACTGCCACAGGCCGACACCAGATCCTTCAGAGATTCTGTGGGCCGAAAGGAACAGAGCCAGGAGTAAAGGCTGGATATGTGACCCCAAATCAGAGCCTAGGCCCTTGGAGGCCTAGGGACTACTGTAGCTCCTAAAGCTAGCCCAGGACGCTTTGATGGGGCTGGGTTAGGGCCAAAGGGAGGCACCAGGTCTCTTTCAGGACCAGAGGTAACCAAGGGACTAGAGCTGAATGCAGGGCTACAGCCAAGGGTGAGGTGGGCAGGGCAGAGGGTGGGCCAGAACCAAGGGTGGGGTGGGGCTAGGGATGGGGTGGGGCCGGGAGGTGGAGCAAGGCTAGAGAAGAGGCCAGACTGGAGCTCAATAAAGCCAGGACTCACTGCTTTTGTGGACAGCAGTGCGCAGACTTAGGTTCTCCTGCTTGAGTTTCTGGTTGCTGTGTTGCAGAAAGCGAATGTAGTCGATGGCCTTGCGCAAGACAGCAGATTTATTCAGCTGCACGGTGTGGGAGGGAGGGGGAGCGCACAGGTGGCCTGTCAGGTCGGGGGTTGTGGGGTTGGAGAGCCCTAGCAAGGGGGTGCGGAGCTGCTTTGCAACATTACTGCCTCAGGACCTTTGCACTTGTTCCTTCTACCTGAACCGTTCCTCGCCTAGTAGCACCCACCTCCCAGGCCGGGCATAGGGTTAGAATGTAAGATGCAGACAGCAGGGTCTGGCTAGCTGCTGCTGTGCCTGCCGCCATCTCAGGGAGGCCTTCCCTGGCTACCACCAGGGGACCCTCACCATCCTCTTCCTGCTTTCTCTGCAACGAGCCAAACGTGGTGGTCTCGAGCACTTATTCATCCTGCCTACTGTCCATCTCCCCCACCAGAAGGTCGGCTCTTCTTTGAGGGACAATTTTTGTCTGTCTTGTTCATTGCTGCATCCCCAATGCCTAGCACAGCCCCACCTTTATTGAAGAGGCCTGCAAACCAGTTTAACTAAATAAACGAGGCTGGCCAGGCCTGGGGAGGCTGAATTCCAATTCCCTGCTTGTCCAGGCTCAGTCTCACTCCCTCTCTTCCTTCCAGTTGCCCCTGATCTGTTCCTTCCTAGGGACACCCCGGTCTGTGCCCCTGCAGGCCTCTCCACACCTTTGCCTCAGTGCCCACCACCAGATCCTTGAGCTCAATGATTTTGTCATTGATGGAGGAGCGGTAGCGCTTCTCAATGGCGTTGTGGGCTGTGCGCTTCTCTCCACGGCTCTGGGCAGAGGCCGGGGCCTTGCTGCCAGCTGCGAGCCGGTTGATAGGCAGCTTCTCCGCATCTACGACCAGTGGGACTGTTGCCAAGATGGTTCCGCCACTCACCAGGGTCTGCAGGGCCAGGCACATGTTACCAGGTGGGCATGTGTGTGTGTGTGTAGACCCCACTCCCTTATGCCCTGCCCACGTCACCCACC
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CCCCATCAGCTGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCTTCCAAAGGAAAACCGACTTGAGAAGATGCCATTGTTGGCTCCGCTTCCTTACTCCACAGCGGCACTGCCTGGGGTCACTTCTCCAATTAGCCATCTGCCCATCAATCCCTGCATGTGCTTCTGAAAGCCCCAATGGGAACGAGAGGCACCCAGGCCTTTCCCTTCCTGCAACCCCCACAGCAACAACCCATGGCAGGGAGAAGGACTGGGGTGGCCAGAGACAGCCAGAGATTCAGGCGACAAGGGACAGGACAGGAATGAGGATGAGGGACAGGAGAGGGGACAGGGAAGGGGTAAGAGAGCACCTGGGTTCCCGGCCAAGCTGTACAGGCTCTCCCATGGGGTACTGAGCACGGACCAGTCCCCATCCACGAAGAAACGGTGGCCCACGGGGTGGCAGAGCCACTGCATGGCAGGAGGCACTGAGCCACTCTGTGCCAGGCAGGCCTGGCGGGCACTGCTCAGGAAGAAGCGCTGTAGGGGAGGGTACTGGGCTGTCACAGTGGACACAGCCTGGGGCCAGACCCCGGGCCGAGTCCCAGCTTGGCCTGGAGTCCCCCTGGTAACCACTGCCACATCCCGTGTAGCTCTTACCCAGGGAGCCTCTGGAGAGAGCTGCAGGGATAAGCCCCCAGCCCCCCAACCCACTCACTGTCAGAAAATGCAAGGCCCGTGGGAGACTGGTCTTCACTCTCAATGCAGCCGCCACATAGATCTCGGCCAGCGTCGCCACAGACACGGCATCCCCTGCACACTCTGCCAGGTTCAGGGCACTCAGCGCCAGGTTGGTGGCAGTGAGGTGCCCGCCTGTGTGCTTCCCTGGAAGGCAAGCAGGCATGAGGCTGTGGGTGGAGCACAGGCAGCAGGGAGCACCTCGGAGCCCGCCCCACGCTCAGTCCTACCCATGGTGTGCAGCTGGTGCAGCTTATGGTAGACCAGGGCTGCGTCTCGGGCGCTGGCGCTAGCATCCACTCGCAGAGCACAGTCCTGCTGCAGGCCCCCTGCCCGGCCTGCCAGCCAGCGGCCCACCCAGAGACGCTGCAGCAGGTGACGGATGAGGTTCCAGAGGAGGCTACAAGCCAGGTCCAGGTGGGAGGTGGGCAGGGGCCGGCCCAGTGCCCGCAGGGCCAGCCACAGCTGCTGGGCAGCCTGGGCAAAGTCTCCCTGTGGATGAGGGTTTTCCAGGTGAGAAAAGTGAGGTCAGAGCAGCTGCCCCAAAGCTCAGAAGAGCCGTCCACAGCAGGCTCTGGAGGGGTGGTGGGGGTCTGCGGATGCGTGGCTAGGCACAGGGAGGACGGGACAGATTCATGGTGTGCACAGGGAGCAGGAACAAGGGTTGACACCCAGCACCTTCACAGCCTGGGGTCCCTGCCCTGCCCACTCTGCCGGGGCCAGCCCCTTACCCGGGCCAGGTCCAGGTCAGCCTGCTTGCGATGCCTCCAGAAGTACACGGCGGGGCCTGAGTGGGGCCGTGTGACTGGCTCACCGTAGACAAAGAGAAGCACCAAGGAGACGAGCACCAACAGCCCATTGAGCAGCCAGACCACTGGGGGCAGCAGCCACTGGGCCCAGCCAGGGCCATCTATGGACAGAGGGAAAGCTGGGGACACAGCTCCCAGGAAATCCAGAGCCCCAAGTTCACAAGCCTGGGGGCTCACCCCGAGTGTCCCTCCCAAAGATGCCCAGGCTGGCCGGTCCCACCTCTGCTCTCGGTGCCCGGCACGTTGCGCCCAGGGCTATGGTAGACGCTGGTGGTATCTGAGGGGCTGGGAAGCCCCCGGGCCCCCAGCAAGGAGGCCAAGGGGTTGCAGGACAGGCAGAGGAAGACGAGCGTGCACAGGGCCAGGCGGGAGCGGTCCAGCATGCCCCGGCTGTGCAGAGACGGCCGCTGCTCTGGCTTTGCCTGGTGGGGTTGGGCAGGGTGGTGAGGGCAGAATCGGAGGGACCCCAGAGAGCATGGGGCTGGGAAGGGGGGGGTCAGGATTCTGCCCACCTTACTGTGGGACCCCACGTGGCTCCAGGCCTCAGTTATTCTGTCTATGAAATGGGAGGTAGGATCTGTTAGGGTCTTCCCGGCCCTGTCATGAGGCTCAGAGGATATGGCTGGGAGTGGGGAAGGGGGCACCGTGGCAGGGCCCAACCTTGCTGTCCTCAAAGACTGGGCTGTCAGGCTCCGAGTCACTGCCACTGCCACCGCTGCCACTGCCCCTGCTGCCAAGGGACAAGGGGCTGCTCTGGAAAGGTGAGCCAGCATCCGAGGGGGGTGGGGTCAGTGTGTCCTCCACCTCAGTCTTCACGCCCTCCATGAGCACGTCTGTGTTCCCTCCACTGCCACAGGCCGACACCAGATCCTTCAGAGATTCTGTGGGCCGAAAGGAACAGAGCCAGGAGTAAAGGCTGGATATGTGACCCCAAATCAGAGCCTAGGCCCTTGGAGGCCTAGGGACTACTGTAGCTCCTAAAGCTAGCCCAGGACGCTTTGATGGGGCTGGGTTAGGGCCAAAGGGAGGCACCAGGTCTCTTTCAGGACCAGAGGTAACCAAGGGACTAGAGCTGAATGCAGGGCTACAGCCAAGGGTGAGGTGGGCAGGGCAGAGGGTGGGCCAGAACCAAGGGTGGGGTGGGGCTAGGGATGGGGTGGGGCCGGGAGGTGGAGCAAGGCTAGAGAAGAGGCCAGACTGGAGCTCAATAAAGCCAGGACTCACTGCTTTTGTGGACAGCAGTGCGCAGACTTAGGTTCTCCTGCTTGAGTTTCTGGTTGCTGTGTTGCAGAAAGCGAATGTAGTCGATGGCCTTGCGCAAGACAGCAGATTTATTCAGCTGCACGGTGTGGGAGGGAGGGGGAGCGCACAGGTGGCCTGTCAGGTCGGGGGTTGTGGGGTTGGAGAGCCCTAGCAAGGGGGTGCGGAGCTGCTTTGCAACATTACTGCCTCAGGACCTTTGCACTTGTTCCTTCTACCTGAACCGTTCCTCGCCTAGTAGCACCCACCTCCCAGGCCGGGCATAGGGTTAGAATGTAAGATGCAGACAGCAGGGTCTGGCTAGCTGCTGCTGTGCCTGCCGCCATCTCAGGGAGGCCTTCCCTGGCTACCACCAGGGGACCCTCACCATCCTCTTCCTGCTTTCTCTGCAACGAGCCAAACGTGGTGGTCTCGAGCACTTATTCATCCTGCCTACTGTCCATCTCCCCCACCAGAAGGTCGGCTCTTCTTTGAGGGACAATTTTTGTCTGTCTTGTTCATTGCTGCATCCCCAATGCCTAGCACAGCCCCACCTTTATTGAAGAGGCCTGCAAACCAGTTTAACTAAATAAACGAGGCTGGCCAGGCCTGGGGAGGCTGAATTCCAATTCCCTGCTTGTCCAGGCTCAGTCTCACTCCCTCTCTTCCTTCCAGTTGCCCCTGATCTGTTCCTTCCTAGGGACACCCCGGTCTGTGCCCCTGCAGGCCTCTCCACACCTTTGCCTCAGTGCCCACCACCAGATCCTTGAGCTCAATGATTTTGTCATTGATGGAGGAGCGGTAGCGCTTCTCAATGGCGTTGTGGGCTGTGCGCTTCTCTCCACGGCTCTGGGCAGAGGCCGGGGCCTTGCTGCCAGCTGCGAGCCGGTTGATAGGCAGCTTCTCCGCATCTACGACCAGTGGGACTGTTGCCAAGATGGTTCCGCCACTCACCAGGGTCTGCAGGGCCAGGCACATGTTACCAGGTGGGCATGTGTGTGTGTGTGTAGACCCCACTCCCTTATGCCCTGCCCACGTCACCCACC
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Task1_train_23844
|
Given this context: Chromosome 17, gene SREBF1 (sterol regulatory element binding transcription factor 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; IFAP syndrome 2
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CCCCATCAGCTGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCTTCCAAAGGAAAACCGACTTGAGAAGATGCCATTGTTGGCTCCGCTTCCTTACTCCACAGCGGCACTGCCTGGGGTCACTTCTCCAATTAGCCATCTGCCCATCAATCCCTGCATGTGCTTCTGAAAGCCCCAATGGGAACGAGAGGCACCCAGGCCTTTCCCTTCCTGCAACCCCCACAGCAACAACCCATGGCAGGGAGAAGGACTGGGGTGGCCAGAGACAGCCAGAGATTCAGGCGACAAGGGACAGGACAGGAATGAGGATGAGGGACAGGAGAGGGGACAGGGAAGGGGTAAGAGAGCACCTGGGTTCCCGGCCAAGCTGTACAGGCTCTCCCATGGGGTACTGAGCACGGACCAGTCCCCATCCACGAAGAAACGGTGGCCCACGGGGTGGCAGAGCCACTGCATGGCAGGAGGCACTGAGCCACTCTGTGCCAGGCAGGCCTGGCGGGCACTGCTCAGGAAGAAGCGCTGTAGGGGAGGGTACTGGGCTGTCACAGTGGACACAGCCTGGGGCCAGACCCCGGGCCGAGTCCCAGCTTGGCCTGGAGTCCCCCTGGTAACCACTGCCACATCCCGTGTAGCTCTTACCCAGGGAGCCTCTGGAGAGAGCTGCAGGGATAAGCCCCCAGCCCCCCAACCCACTCACTGTCAGAAAATGCAAGGCCCGTGGGAGACTGGTCTTCACTCTCAATGCAGCCGCCACATAGATCTCGGCCAGCGTCGCCACAGACACGGCATCCCCTGCACACTCTGCCAGGTTCAGGGCACTCAGCGCCAGGTTGGTGGCAGTGAGGTGCCCGCCTGTGTGCTTCCCTGGAAGGCAAGCAGGCATGAGGCTGTGGGTGGAGCACAGGCAGCAGGGAGCACCTCGGAGCCCGCCCCACGCTCAGTCCTACCCATGGTGTGCAGCTGGTGCAGCTTATGGTAGACCAGGGCTGCGTCTCGGGCGCTGGCGCTAGCATCCACTCGCAGAGCACAGTCCTGCTGCAGGCCCCCTGCCCGGCCTGCCAGCCAGCGGCCCACCCAGAGACGCTGCAGCAGGTGACGGATGAGGTTCCAGAGGAGGCTACAAGCCAGGTCCAGGTGGGAGGTGGGCAGGGGCCGGCCCAGTGCCCGCAGGGCCAGCCACAGCTGCTGGGCAGCCTGGGCAAAGTCTCCCTGTGGATGAGGGTTTTCCAGGTGAGAAAAGTGAGGTCAGAGCAGCTGCCCCAAAGCTCAGAAGAGCCGTCCACAGCAGGCTCTGGAGGGGTGGTGGGGGTCTGCGGATGCGTGGCTAGGCACAGGGAGGACGGGACAGATTCATGGTGTGCACAGGGAGCAGGAACAAGGGTTGACACCCAGCACCTTCACAGCCTGGGGTCCCTGCCCTGCCCACTCTGCCGGGGCCAGCCCCTTACCCGGGCCAGGTCCAGGTCAGCCTGCTTGCGATGCCTCCAGAAGTACACGGCGGGGCCTGAGTGGGGCCGTGTGACTGGCTCACCGTAGACAAAGAGAAGCACCAAGGAGACGAGCACCAACAGCCCATTGAGCAGCCAGACCACTGGGGGCAGCAGCCACTGGGCCCAGCCAGGGCCATCTATGGACAGAGGGAAAGCTGGGGACACAGCTCCCAGGAAATCCAGAGCCCCAAGTTCACAAGCCTGGGGGCTCACCCCGAGTGTCCCTCCCAAAGATGCCCAGGCTGGCCGGTCCCACCTCTGCTCTCGGTGCCCAGCACGTTGCGCCCAGGGCTATGGTAGACGCTGGTGGTATCTGAGGGGCTGGGAAGCCCCCGGGCCCCCAGCAAGGAGGCCAAGGGGTTGCAGGACAGGCAGAGGAAGACGAGCGTGCACAGGGCCAGGCGGGAGCGGTCCAGCATGCCCCGGCTGTGCAGAGACGGCCGCTGCTCTGGCTTTGCCTGGTGGGGTTGGGCAGGGTGGTGAGGGCAGAATCGGAGGGACCCCAGAGAGCATGGGGCTGGGAAGGGGGGGGTCAGGATTCTGCCCACCTTACTGTGGGACCCCACGTGGCTCCAGGCCTCAGTTATTCTGTCTATGAAATGGGAGGTAGGATCTGTTAGGGTCTTCCCGGCCCTGTCATGAGGCTCAGAGGATATGGCTGGGAGTGGGGAAGGGGGCACCGTGGCAGGGCCCAACCTTGCTGTCCTCAAAGACTGGGCTGTCAGGCTCCGAGTCACTGCCACTGCCACCGCTGCCACTGCCCCTGCTGCCAAGGGACAAGGGGCTGCTCTGGAAAGGTGAGCCAGCATCCGAGGGGGGTGGGGTCAGTGTGTCCTCCACCTCAGTCTTCACGCCCTCCATGAGCACGTCTGTGTTCCCTCCACTGCCACAGGCCGACACCAGATCCTTCAGAGATTCTGTGGGCCGAAAGGAACAGAGCCAGGAGTAAAGGCTGGATATGTGACCCCAAATCAGAGCCTAGGCCCTTGGAGGCCTAGGGACTACTGTAGCTCCTAAAGCTAGCCCAGGACGCTTTGATGGGGCTGGGTTAGGGCCAAAGGGAGGCACCAGGTCTCTTTCAGGACCAGAGGTAACCAAGGGACTAGAGCTGAATGCAGGGCTACAGCCAAGGGTGAGGTGGGCAGGGCAGAGGGTGGGCCAGAACCAAGGGTGGGGTGGGGCTAGGGATGGGGTGGGGCCGGGAGGTGGAGCAAGGCTAGAGAAGAGGCCAGACTGGAGCTCAATAAAGCCAGGACTCACTGCTTTTGTGGACAGCAGTGCGCAGACTTAGGTTCTCCTGCTTGAGTTTCTGGTTGCTGTGTTGCAGAAAGCGAATGTAGTCGATGGCCTTGCGCAAGACAGCAGATTTATTCAGCTGCACGGTGTGGGAGGGAGGGGGAGCGCACAGGTGGCCTGTCAGGTCGGGGGTTGTGGGGTTGGAGAGCCCTAGCAAGGGGGTGCGGAGCTGCTTTGCAACATTACTGCCTCAGGACCTTTGCACTTGTTCCTTCTACCTGAACCGTTCCTCGCCTAGTAGCACCCACCTCCCAGGCCGGGCATAGGGTTAGAATGTAAGATGCAGACAGCAGGGTCTGGCTAGCTGCTGCTGTGCCTGCCGCCATCTCAGGGAGGCCTTCCCTGGCTACCACCAGGGGACCCTCACCATCCTCTTCCTGCTTTCTCTGCAACGAGCCAAACGTGGTGGTCTCGAGCACTTATTCATCCTGCCTACTGTCCATCTCCCCCACCAGAAGGTCGGCTCTTCTTTGAGGGACAATTTTTGTCTGTCTTGTTCATTGCTGCATCCCCAATGCCTAGCACAGCCCCACCTTTATTGAAGAGGCCTGCAAACCAGTTTAACTAAATAAACGAGGCTGGCCAGGCCTGGGGAGGCTGAATTCCAATTCCCTGCTTGTCCAGGCTCAGTCTCACTCCCTCTCTTCCTTCCAGTTGCCCCTGATCTGTTCCTTCCTAGGGACACCCCGGTCTGTGCCCCTGCAGGCCTCTCCACACCTTTGCCTCAGTGCCCACCACCAGATCCTTGAGCTCAATGATTTTGTCATTGATGGAGGAGCGGTAGCGCTTCTCAATGGCGTTGTGGGCTGTGCGCTTCTCTCCACGGCTCTGGGCAGAGGCCGGGGCCTTGCTGCCAGCTGCGAGCCGGTTGATAGGCAGCTTCTCCGCATCTACGACCAGTGGGACTGTTGCCAAGATGGTTCCGCCACTCACCAGGGTCTGCAGGGCCAGGCACATGTTACCAGGTGGGCATGTGTGTGTGTGTGTAGACCCCACTCCCTTATGCCCTGCCCACGTCACCCACC
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CCCCATCAGCTGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCTTCCAAAGGAAAACCGACTTGAGAAGATGCCATTGTTGGCTCCGCTTCCTTACTCCACAGCGGCACTGCCTGGGGTCACTTCTCCAATTAGCCATCTGCCCATCAATCCCTGCATGTGCTTCTGAAAGCCCCAATGGGAACGAGAGGCACCCAGGCCTTTCCCTTCCTGCAACCCCCACAGCAACAACCCATGGCAGGGAGAAGGACTGGGGTGGCCAGAGACAGCCAGAGATTCAGGCGACAAGGGACAGGACAGGAATGAGGATGAGGGACAGGAGAGGGGACAGGGAAGGGGTAAGAGAGCACCTGGGTTCCCGGCCAAGCTGTACAGGCTCTCCCATGGGGTACTGAGCACGGACCAGTCCCCATCCACGAAGAAACGGTGGCCCACGGGGTGGCAGAGCCACTGCATGGCAGGAGGCACTGAGCCACTCTGTGCCAGGCAGGCCTGGCGGGCACTGCTCAGGAAGAAGCGCTGTAGGGGAGGGTACTGGGCTGTCACAGTGGACACAGCCTGGGGCCAGACCCCGGGCCGAGTCCCAGCTTGGCCTGGAGTCCCCCTGGTAACCACTGCCACATCCCGTGTAGCTCTTACCCAGGGAGCCTCTGGAGAGAGCTGCAGGGATAAGCCCCCAGCCCCCCAACCCACTCACTGTCAGAAAATGCAAGGCCCGTGGGAGACTGGTCTTCACTCTCAATGCAGCCGCCACATAGATCTCGGCCAGCGTCGCCACAGACACGGCATCCCCTGCACACTCTGCCAGGTTCAGGGCACTCAGCGCCAGGTTGGTGGCAGTGAGGTGCCCGCCTGTGTGCTTCCCTGGAAGGCAAGCAGGCATGAGGCTGTGGGTGGAGCACAGGCAGCAGGGAGCACCTCGGAGCCCGCCCCACGCTCAGTCCTACCCATGGTGTGCAGCTGGTGCAGCTTATGGTAGACCAGGGCTGCGTCTCGGGCGCTGGCGCTAGCATCCACTCGCAGAGCACAGTCCTGCTGCAGGCCCCCTGCCCGGCCTGCCAGCCAGCGGCCCACCCAGAGACGCTGCAGCAGGTGACGGATGAGGTTCCAGAGGAGGCTACAAGCCAGGTCCAGGTGGGAGGTGGGCAGGGGCCGGCCCAGTGCCCGCAGGGCCAGCCACAGCTGCTGGGCAGCCTGGGCAAAGTCTCCCTGTGGATGAGGGTTTTCCAGGTGAGAAAAGTGAGGTCAGAGCAGCTGCCCCAAAGCTCAGAAGAGCCGTCCACAGCAGGCTCTGGAGGGGTGGTGGGGGTCTGCGGATGCGTGGCTAGGCACAGGGAGGACGGGACAGATTCATGGTGTGCACAGGGAGCAGGAACAAGGGTTGACACCCAGCACCTTCACAGCCTGGGGTCCCTGCCCTGCCCACTCTGCCGGGGCCAGCCCCTTACCCGGGCCAGGTCCAGGTCAGCCTGCTTGCGATGCCTCCAGAAGTACACGGCGGGGCCTGAGTGGGGCCGTGTGACTGGCTCACCGTAGACAAAGAGAAGCACCAAGGAGACGAGCACCAACAGCCCATTGAGCAGCCAGACCACTGGGGGCAGCAGCCACTGGGCCCAGCCAGGGCCATCTATGGACAGAGGGAAAGCTGGGGACACAGCTCCCAGGAAATCCAGAGCCCCAAGTTCACAAGCCTGGGGGCTCACCCCGAGTGTCCCTCCCAAAGATGCCCAGGCTGGCCGGTCCCACCTCTGCTCTCGGTGCCCGGCACGTTGCGCCCAGGGCTATGGTAGACGCTGGTGGTATCTGAGGGGCTGGGAAGCCCCCGGGCCCCCAGCAAGGAGGCCAAGGGGTTGCAGGACAGGCAGAGGAAGACGAGCGTGCACAGGGCCAGGCGGGAGCGGTCCAGCATGCCCCGGCTGTGCAGAGACGGCCGCTGCTCTGGCTTTGCCTGGTGGGGTTGGGCAGGGTGGTGAGGGCAGAATCGGAGGGACCCCAGAGAGCATGGGGCTGGGAAGGGGGGGGTCAGGATTCTGCCCACCTTACTGTGGGACCCCACGTGGCTCCAGGCCTCAGTTATTCTGTCTATGAAATGGGAGGTAGGATCTGTTAGGGTCTTCCCGGCCCTGTCATGAGGCTCAGAGGATATGGCTGGGAGTGGGGAAGGGGGCACCGTGGCAGGGCCCAACCTTGCTGTCCTCAAAGACTGGGCTGTCAGGCTCCGAGTCACTGCCACTGCCACCGCTGCCACTGCCCCTGCTGCCAAGGGACAAGGGGCTGCTCTGGAAAGGTGAGCCAGCATCCGAGGGGGGTGGGGTCAGTGTGTCCTCCACCTCAGTCTTCACGCCCTCCATGAGCACGTCTGTGTTCCCTCCACTGCCACAGGCCGACACCAGATCCTTCAGAGATTCTGTGGGCCGAAAGGAACAGAGCCAGGAGTAAAGGCTGGATATGTGACCCCAAATCAGAGCCTAGGCCCTTGGAGGCCTAGGGACTACTGTAGCTCCTAAAGCTAGCCCAGGACGCTTTGATGGGGCTGGGTTAGGGCCAAAGGGAGGCACCAGGTCTCTTTCAGGACCAGAGGTAACCAAGGGACTAGAGCTGAATGCAGGGCTACAGCCAAGGGTGAGGTGGGCAGGGCAGAGGGTGGGCCAGAACCAAGGGTGGGGTGGGGCTAGGGATGGGGTGGGGCCGGGAGGTGGAGCAAGGCTAGAGAAGAGGCCAGACTGGAGCTCAATAAAGCCAGGACTCACTGCTTTTGTGGACAGCAGTGCGCAGACTTAGGTTCTCCTGCTTGAGTTTCTGGTTGCTGTGTTGCAGAAAGCGAATGTAGTCGATGGCCTTGCGCAAGACAGCAGATTTATTCAGCTGCACGGTGTGGGAGGGAGGGGGAGCGCACAGGTGGCCTGTCAGGTCGGGGGTTGTGGGGTTGGAGAGCCCTAGCAAGGGGGTGCGGAGCTGCTTTGCAACATTACTGCCTCAGGACCTTTGCACTTGTTCCTTCTACCTGAACCGTTCCTCGCCTAGTAGCACCCACCTCCCAGGCCGGGCATAGGGTTAGAATGTAAGATGCAGACAGCAGGGTCTGGCTAGCTGCTGCTGTGCCTGCCGCCATCTCAGGGAGGCCTTCCCTGGCTACCACCAGGGGACCCTCACCATCCTCTTCCTGCTTTCTCTGCAACGAGCCAAACGTGGTGGTCTCGAGCACTTATTCATCCTGCCTACTGTCCATCTCCCCCACCAGAAGGTCGGCTCTTCTTTGAGGGACAATTTTTGTCTGTCTTGTTCATTGCTGCATCCCCAATGCCTAGCACAGCCCCACCTTTATTGAAGAGGCCTGCAAACCAGTTTAACTAAATAAACGAGGCTGGCCAGGCCTGGGGAGGCTGAATTCCAATTCCCTGCTTGTCCAGGCTCAGTCTCACTCCCTCTCTTCCTTCCAGTTGCCCCTGATCTGTTCCTTCCTAGGGACACCCCGGTCTGTGCCCCTGCAGGCCTCTCCACACCTTTGCCTCAGTGCCCACCACCAGATCCTTGAGCTCAATGATTTTGTCATTGATGGAGGAGCGGTAGCGCTTCTCAATGGCGTTGTGGGCTGTGCGCTTCTCTCCACGGCTCTGGGCAGAGGCCGGGGCCTTGCTGCCAGCTGCGAGCCGGTTGATAGGCAGCTTCTCCGCATCTACGACCAGTGGGACTGTTGCCAAGATGGTTCCGCCACTCACCAGGGTCTGCAGGGCCAGGCACATGTTACCAGGTGGGCATGTGTGTGTGTGTGTAGACCCCACTCCCTTATGCCCTGCCCACGTCACCCACC
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Task1_train_23845
|
This is a variant in SREBF1 (sterol regulatory element binding transcription factor 1), located on Chromosome 17. Is this mutation a likely cause of disease or not?
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Pathogenic; Hereditary mucoepithelial dysplasia
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TGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCTTCCAAAGGAAAACCGACTTGAGAAGATGCCATTGTTGGCTCCGCTTCCTTACTCCACAGCGGCACTGCCTGGGGTCACTTCTCCAATTAGCCATCTGCCCATCAATCCCTGCATGTGCTTCTGAAAGCCCCAATGGGAACGAGAGGCACCCAGGCCTTTCCCTTCCTGCAACCCCCACAGCAACAACCCATGGCAGGGAGAAGGACTGGGGTGGCCAGAGACAGCCAGAGATTCAGGCGACAAGGGACAGGACAGGAATGAGGATGAGGGACAGGAGAGGGGACAGGGAAGGGGTAAGAGAGCACCTGGGTTCCCGGCCAAGCTGTACAGGCTCTCCCATGGGGTACTGAGCACGGACCAGTCCCCATCCACGAAGAAACGGTGGCCCACGGGGTGGCAGAGCCACTGCATGGCAGGAGGCACTGAGCCACTCTGTGCCAGGCAGGCCTGGCGGGCACTGCTCAGGAAGAAGCGCTGTAGGGGAGGGTACTGGGCTGTCACAGTGGACACAGCCTGGGGCCAGACCCCGGGCCGAGTCCCAGCTTGGCCTGGAGTCCCCCTGGTAACCACTGCCACATCCCGTGTAGCTCTTACCCAGGGAGCCTCTGGAGAGAGCTGCAGGGATAAGCCCCCAGCCCCCCAACCCACTCACTGTCAGAAAATGCAAGGCCCGTGGGAGACTGGTCTTCACTCTCAATGCAGCCGCCACATAGATCTCGGCCAGCGTCGCCACAGACACGGCATCCCCTGCACACTCTGCCAGGTTCAGGGCACTCAGCGCCAGGTTGGTGGCAGTGAGGTGCCCGCCTGTGTGCTTCCCTGGAAGGCAAGCAGGCATGAGGCTGTGGGTGGAGCACAGGCAGCAGGGAGCACCTCGGAGCCCGCCCCACGCTCAGTCCTACCCATGGTGTGCAGCTGGTGCAGCTTATGGTAGACCAGGGCTGCGTCTCGGGCGCTGGCGCTAGCATCCACTCGCAGAGCACAGTCCTGCTGCAGGCCCCCTGCCCGGCCTGCCAGCCAGCGGCCCACCCAGAGACGCTGCAGCAGGTGACGGATGAGGTTCCAGAGGAGGCTACAAGCCAGGTCCAGGTGGGAGGTGGGCAGGGGCCGGCCCAGTGCCCGCAGGGCCAGCCACAGCTGCTGGGCAGCCTGGGCAAAGTCTCCCTGTGGATGAGGGTTTTCCAGGTGAGAAAAGTGAGGTCAGAGCAGCTGCCCCAAAGCTCAGAAGAGCCGTCCACAGCAGGCTCTGGAGGGGTGGTGGGGGTCTGCGGATGCGTGGCTAGGCACAGGGAGGACGGGACAGATTCATGGTGTGCACAGGGAGCAGGAACAAGGGTTGACACCCAGCACCTTCACAGCCTGGGGTCCCTGCCCTGCCCACTCTGCCGGGGCCAGCCCCTTACCCGGGCCAGGTCCAGGTCAGCCTGCTTGCGATGCCTCCAGAAGTACACGGCGGGGCCTGAGTGGGGCCGTGTGACTGGCTCACCGTAGACAAAGAGAAGCACCAAGGAGACGAGCACCAACAGCCCATTGAGCAGCCAGACCACTGGGGGCAGCAGCCACTGGGCCCAGCCAGGGCCATCTATGGACAGAGGGAAAGCTGGGGACACAGCTCCCAGGAAATCCAGAGCCCCAAGTTCACAAGCCTGGGGGCTCACCCCGAGTGTCCCTCCCAAAGATGCCCAGGCTGGCCGGTCCCACCTCTGCTCTCGGTGCCCAGCACGTTGCGCCCAGGGCTATGGTAGACGCTGGTGGTATCTGAGGGGCTGGGAAGCCCCCGGGCCCCCAGCAAGGAGGCCAAGGGGTTGCAGGACAGGCAGAGGAAGACGAGCGTGCACAGGGCCAGGCGGGAGCGGTCCAGCATGCCCCGGCTGTGCAGAGACGGCCGCTGCTCTGGCTTTGCCTGGTGGGGTTGGGCAGGGTGGTGAGGGCAGAATCGGAGGGACCCCAGAGAGCATGGGGCTGGGAAGGGGGGGGTCAGGATTCTGCCCACCTTACTGTGGGACCCCACGTGGCTCCAGGCCTCAGTTATTCTGTCTATGAAATGGGAGGTAGGATCTGTTAGGGTCTTCCCGGCCCTGTCATGAGGCTCAGAGGATATGGCTGGGAGTGGGGAAGGGGGCACCGTGGCAGGGCCCAACCTTGCTGTCCTCAAAGACTGGGCTGTCAGGCTCCGAGTCACTGCCACTGCCACCGCTGCCACTGCCCCTGCTGCCAAGGGACAAGGGGCTGCTCTGGAAAGGTGAGCCAGCATCCGAGGGGGGTGGGGTCAGTGTGTCCTCCACCTCAGTCTTCACGCCCTCCATGAGCACGTCTGTGTTCCCTCCACTGCCACAGGCCGACACCAGATCCTTCAGAGATTCTGTGGGCCGAAAGGAACAGAGCCAGGAGTAAAGGCTGGATATGTGACCCCAAATCAGAGCCTAGGCCCTTGGAGGCCTAGGGACTACTGTAGCTCCTAAAGCTAGCCCAGGACGCTTTGATGGGGCTGGGTTAGGGCCAAAGGGAGGCACCAGGTCTCTTTCAGGACCAGAGGTAACCAAGGGACTAGAGCTGAATGCAGGGCTACAGCCAAGGGTGAGGTGGGCAGGGCAGAGGGTGGGCCAGAACCAAGGGTGGGGTGGGGCTAGGGATGGGGTGGGGCCGGGAGGTGGAGCAAGGCTAGAGAAGAGGCCAGACTGGAGCTCAATAAAGCCAGGACTCACTGCTTTTGTGGACAGCAGTGCGCAGACTTAGGTTCTCCTGCTTGAGTTTCTGGTTGCTGTGTTGCAGAAAGCGAATGTAGTCGATGGCCTTGCGCAAGACAGCAGATTTATTCAGCTGCACGGTGTGGGAGGGAGGGGGAGCGCACAGGTGGCCTGTCAGGTCGGGGGTTGTGGGGTTGGAGAGCCCTAGCAAGGGGGTGCGGAGCTGCTTTGCAACATTACTGCCTCAGGACCTTTGCACTTGTTCCTTCTACCTGAACCGTTCCTCGCCTAGTAGCACCCACCTCCCAGGCCGGGCATAGGGTTAGAATGTAAGATGCAGACAGCAGGGTCTGGCTAGCTGCTGCTGTGCCTGCCGCCATCTCAGGGAGGCCTTCCCTGGCTACCACCAGGGGACCCTCACCATCCTCTTCCTGCTTTCTCTGCAACGAGCCAAACGTGGTGGTCTCGAGCACTTATTCATCCTGCCTACTGTCCATCTCCCCCACCAGAAGGTCGGCTCTTCTTTGAGGGACAATTTTTGTCTGTCTTGTTCATTGCTGCATCCCCAATGCCTAGCACAGCCCCACCTTTATTGAAGAGGCCTGCAAACCAGTTTAACTAAATAAACGAGGCTGGCCAGGCCTGGGGAGGCTGAATTCCAATTCCCTGCTTGTCCAGGCTCAGTCTCACTCCCTCTCTTCCTTCCAGTTGCCCCTGATCTGTTCCTTCCTAGGGACACCCCGGTCTGTGCCCCTGCAGGCCTCTCCACACCTTTGCCTCAGTGCCCACCACCAGATCCTTGAGCTCAATGATTTTGTCATTGATGGAGGAGCGGTAGCGCTTCTCAATGGCGTTGTGGGCTGTGCGCTTCTCTCCACGGCTCTGGGCAGAGGCCGGGGCCTTGCTGCCAGCTGCGAGCCGGTTGATAGGCAGCTTCTCCGCATCTACGACCAGTGGGACTGTTGCCAAGATGGTTCCGCCACTCACCAGGGTCTGCAGGGCCAGGCACATGTTACCAGGTGGGCATGTGTGTGTGTGTGTAGACCCCACTCCCTTATGCCCTGCCCACGTCACCCACCGGCAAAGGCC
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TGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCTTCCAAAGGAAAACCGACTTGAGAAGATGCCATTGTTGGCTCCGCTTCCTTACTCCACAGCGGCACTGCCTGGGGTCACTTCTCCAATTAGCCATCTGCCCATCAATCCCTGCATGTGCTTCTGAAAGCCCCAATGGGAACGAGAGGCACCCAGGCCTTTCCCTTCCTGCAACCCCCACAGCAACAACCCATGGCAGGGAGAAGGACTGGGGTGGCCAGAGACAGCCAGAGATTCAGGCGACAAGGGACAGGACAGGAATGAGGATGAGGGACAGGAGAGGGGACAGGGAAGGGGTAAGAGAGCACCTGGGTTCCCGGCCAAGCTGTACAGGCTCTCCCATGGGGTACTGAGCACGGACCAGTCCCCATCCACGAAGAAACGGTGGCCCACGGGGTGGCAGAGCCACTGCATGGCAGGAGGCACTGAGCCACTCTGTGCCAGGCAGGCCTGGCGGGCACTGCTCAGGAAGAAGCGCTGTAGGGGAGGGTACTGGGCTGTCACAGTGGACACAGCCTGGGGCCAGACCCCGGGCCGAGTCCCAGCTTGGCCTGGAGTCCCCCTGGTAACCACTGCCACATCCCGTGTAGCTCTTACCCAGGGAGCCTCTGGAGAGAGCTGCAGGGATAAGCCCCCAGCCCCCCAACCCACTCACTGTCAGAAAATGCAAGGCCCGTGGGAGACTGGTCTTCACTCTCAATGCAGCCGCCACATAGATCTCGGCCAGCGTCGCCACAGACACGGCATCCCCTGCACACTCTGCCAGGTTCAGGGCACTCAGCGCCAGGTTGGTGGCAGTGAGGTGCCCGCCTGTGTGCTTCCCTGGAAGGCAAGCAGGCATGAGGCTGTGGGTGGAGCACAGGCAGCAGGGAGCACCTCGGAGCCCGCCCCACGCTCAGTCCTACCCATGGTGTGCAGCTGGTGCAGCTTATGGTAGACCAGGGCTGCGTCTCGGGCGCTGGCGCTAGCATCCACTCGCAGAGCACAGTCCTGCTGCAGGCCCCCTGCCCGGCCTGCCAGCCAGCGGCCCACCCAGAGACGCTGCAGCAGGTGACGGATGAGGTTCCAGAGGAGGCTACAAGCCAGGTCCAGGTGGGAGGTGGGCAGGGGCCGGCCCAGTGCCCGCAGGGCCAGCCACAGCTGCTGGGCAGCCTGGGCAAAGTCTCCCTGTGGATGAGGGTTTTCCAGGTGAGAAAAGTGAGGTCAGAGCAGCTGCCCCAAAGCTCAGAAGAGCCGTCCACAGCAGGCTCTGGAGGGGTGGTGGGGGTCTGCGGATGCGTGGCTAGGCACAGGGAGGACGGGACAGATTCATGGTGTGCACAGGGAGCAGGAACAAGGGTTGACACCCAGCACCTTCACAGCCTGGGGTCCCTGCCCTGCCCACTCTGCCGGGGCCAGCCCCTTACCCGGGCCAGGTCCAGGTCAGCCTGCTTGCGATGCCTCCAGAAGTACACGGCGGGGCCTGAGTGGGGCCGTGTGACTGGCTCACCGTAGACAAAGAGAAGCACCAAGGAGACGAGCACCAACAGCCCATTGAGCAGCCAGACCACTGGGGGCAGCAGCCACTGGGCCCAGCCAGGGCCATCTATGGACAGAGGGAAAGCTGGGGACACAGCTCCCAGGAAATCCAGAGCCCCAAGTTCACAAGCCTGGGGGCTCACCCCGAGTGTCCCTCCCAAAGATGCCCAGGCTGGCCGGTCCCACCTCTGCTCTCGGTGCCCAGCACGTTGCACCCAGGGCTATGGTAGACGCTGGTGGTATCTGAGGGGCTGGGAAGCCCCCGGGCCCCCAGCAAGGAGGCCAAGGGGTTGCAGGACAGGCAGAGGAAGACGAGCGTGCACAGGGCCAGGCGGGAGCGGTCCAGCATGCCCCGGCTGTGCAGAGACGGCCGCTGCTCTGGCTTTGCCTGGTGGGGTTGGGCAGGGTGGTGAGGGCAGAATCGGAGGGACCCCAGAGAGCATGGGGCTGGGAAGGGGGGGGTCAGGATTCTGCCCACCTTACTGTGGGACCCCACGTGGCTCCAGGCCTCAGTTATTCTGTCTATGAAATGGGAGGTAGGATCTGTTAGGGTCTTCCCGGCCCTGTCATGAGGCTCAGAGGATATGGCTGGGAGTGGGGAAGGGGGCACCGTGGCAGGGCCCAACCTTGCTGTCCTCAAAGACTGGGCTGTCAGGCTCCGAGTCACTGCCACTGCCACCGCTGCCACTGCCCCTGCTGCCAAGGGACAAGGGGCTGCTCTGGAAAGGTGAGCCAGCATCCGAGGGGGGTGGGGTCAGTGTGTCCTCCACCTCAGTCTTCACGCCCTCCATGAGCACGTCTGTGTTCCCTCCACTGCCACAGGCCGACACCAGATCCTTCAGAGATTCTGTGGGCCGAAAGGAACAGAGCCAGGAGTAAAGGCTGGATATGTGACCCCAAATCAGAGCCTAGGCCCTTGGAGGCCTAGGGACTACTGTAGCTCCTAAAGCTAGCCCAGGACGCTTTGATGGGGCTGGGTTAGGGCCAAAGGGAGGCACCAGGTCTCTTTCAGGACCAGAGGTAACCAAGGGACTAGAGCTGAATGCAGGGCTACAGCCAAGGGTGAGGTGGGCAGGGCAGAGGGTGGGCCAGAACCAAGGGTGGGGTGGGGCTAGGGATGGGGTGGGGCCGGGAGGTGGAGCAAGGCTAGAGAAGAGGCCAGACTGGAGCTCAATAAAGCCAGGACTCACTGCTTTTGTGGACAGCAGTGCGCAGACTTAGGTTCTCCTGCTTGAGTTTCTGGTTGCTGTGTTGCAGAAAGCGAATGTAGTCGATGGCCTTGCGCAAGACAGCAGATTTATTCAGCTGCACGGTGTGGGAGGGAGGGGGAGCGCACAGGTGGCCTGTCAGGTCGGGGGTTGTGGGGTTGGAGAGCCCTAGCAAGGGGGTGCGGAGCTGCTTTGCAACATTACTGCCTCAGGACCTTTGCACTTGTTCCTTCTACCTGAACCGTTCCTCGCCTAGTAGCACCCACCTCCCAGGCCGGGCATAGGGTTAGAATGTAAGATGCAGACAGCAGGGTCTGGCTAGCTGCTGCTGTGCCTGCCGCCATCTCAGGGAGGCCTTCCCTGGCTACCACCAGGGGACCCTCACCATCCTCTTCCTGCTTTCTCTGCAACGAGCCAAACGTGGTGGTCTCGAGCACTTATTCATCCTGCCTACTGTCCATCTCCCCCACCAGAAGGTCGGCTCTTCTTTGAGGGACAATTTTTGTCTGTCTTGTTCATTGCTGCATCCCCAATGCCTAGCACAGCCCCACCTTTATTGAAGAGGCCTGCAAACCAGTTTAACTAAATAAACGAGGCTGGCCAGGCCTGGGGAGGCTGAATTCCAATTCCCTGCTTGTCCAGGCTCAGTCTCACTCCCTCTCTTCCTTCCAGTTGCCCCTGATCTGTTCCTTCCTAGGGACACCCCGGTCTGTGCCCCTGCAGGCCTCTCCACACCTTTGCCTCAGTGCCCACCACCAGATCCTTGAGCTCAATGATTTTGTCATTGATGGAGGAGCGGTAGCGCTTCTCAATGGCGTTGTGGGCTGTGCGCTTCTCTCCACGGCTCTGGGCAGAGGCCGGGGCCTTGCTGCCAGCTGCGAGCCGGTTGATAGGCAGCTTCTCCGCATCTACGACCAGTGGGACTGTTGCCAAGATGGTTCCGCCACTCACCAGGGTCTGCAGGGCCAGGCACATGTTACCAGGTGGGCATGTGTGTGTGTGTGTAGACCCCACTCCCTTATGCCCTGCCCACGTCACCCACCGGCAAAGGCC
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Task1_train_23846
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Here is a mutation in SREBF1 (sterol regulatory element binding transcription factor 1) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; IFAP syndrome 2
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TGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCTTCCAAAGGAAAACCGACTTGAGAAGATGCCATTGTTGGCTCCGCTTCCTTACTCCACAGCGGCACTGCCTGGGGTCACTTCTCCAATTAGCCATCTGCCCATCAATCCCTGCATGTGCTTCTGAAAGCCCCAATGGGAACGAGAGGCACCCAGGCCTTTCCCTTCCTGCAACCCCCACAGCAACAACCCATGGCAGGGAGAAGGACTGGGGTGGCCAGAGACAGCCAGAGATTCAGGCGACAAGGGACAGGACAGGAATGAGGATGAGGGACAGGAGAGGGGACAGGGAAGGGGTAAGAGAGCACCTGGGTTCCCGGCCAAGCTGTACAGGCTCTCCCATGGGGTACTGAGCACGGACCAGTCCCCATCCACGAAGAAACGGTGGCCCACGGGGTGGCAGAGCCACTGCATGGCAGGAGGCACTGAGCCACTCTGTGCCAGGCAGGCCTGGCGGGCACTGCTCAGGAAGAAGCGCTGTAGGGGAGGGTACTGGGCTGTCACAGTGGACACAGCCTGGGGCCAGACCCCGGGCCGAGTCCCAGCTTGGCCTGGAGTCCCCCTGGTAACCACTGCCACATCCCGTGTAGCTCTTACCCAGGGAGCCTCTGGAGAGAGCTGCAGGGATAAGCCCCCAGCCCCCCAACCCACTCACTGTCAGAAAATGCAAGGCCCGTGGGAGACTGGTCTTCACTCTCAATGCAGCCGCCACATAGATCTCGGCCAGCGTCGCCACAGACACGGCATCCCCTGCACACTCTGCCAGGTTCAGGGCACTCAGCGCCAGGTTGGTGGCAGTGAGGTGCCCGCCTGTGTGCTTCCCTGGAAGGCAAGCAGGCATGAGGCTGTGGGTGGAGCACAGGCAGCAGGGAGCACCTCGGAGCCCGCCCCACGCTCAGTCCTACCCATGGTGTGCAGCTGGTGCAGCTTATGGTAGACCAGGGCTGCGTCTCGGGCGCTGGCGCTAGCATCCACTCGCAGAGCACAGTCCTGCTGCAGGCCCCCTGCCCGGCCTGCCAGCCAGCGGCCCACCCAGAGACGCTGCAGCAGGTGACGGATGAGGTTCCAGAGGAGGCTACAAGCCAGGTCCAGGTGGGAGGTGGGCAGGGGCCGGCCCAGTGCCCGCAGGGCCAGCCACAGCTGCTGGGCAGCCTGGGCAAAGTCTCCCTGTGGATGAGGGTTTTCCAGGTGAGAAAAGTGAGGTCAGAGCAGCTGCCCCAAAGCTCAGAAGAGCCGTCCACAGCAGGCTCTGGAGGGGTGGTGGGGGTCTGCGGATGCGTGGCTAGGCACAGGGAGGACGGGACAGATTCATGGTGTGCACAGGGAGCAGGAACAAGGGTTGACACCCAGCACCTTCACAGCCTGGGGTCCCTGCCCTGCCCACTCTGCCGGGGCCAGCCCCTTACCCGGGCCAGGTCCAGGTCAGCCTGCTTGCGATGCCTCCAGAAGTACACGGCGGGGCCTGAGTGGGGCCGTGTGACTGGCTCACCGTAGACAAAGAGAAGCACCAAGGAGACGAGCACCAACAGCCCATTGAGCAGCCAGACCACTGGGGGCAGCAGCCACTGGGCCCAGCCAGGGCCATCTATGGACAGAGGGAAAGCTGGGGACACAGCTCCCAGGAAATCCAGAGCCCCAAGTTCACAAGCCTGGGGGCTCACCCCGAGTGTCCCTCCCAAAGATGCCCAGGCTGGCCGGTCCCACCTCTGCTCTCGGTGCCCAGCACGTTGCGCCCAGGGCTATGGTAGACGCTGGTGGTATCTGAGGGGCTGGGAAGCCCCCGGGCCCCCAGCAAGGAGGCCAAGGGGTTGCAGGACAGGCAGAGGAAGACGAGCGTGCACAGGGCCAGGCGGGAGCGGTCCAGCATGCCCCGGCTGTGCAGAGACGGCCGCTGCTCTGGCTTTGCCTGGTGGGGTTGGGCAGGGTGGTGAGGGCAGAATCGGAGGGACCCCAGAGAGCATGGGGCTGGGAAGGGGGGGGTCAGGATTCTGCCCACCTTACTGTGGGACCCCACGTGGCTCCAGGCCTCAGTTATTCTGTCTATGAAATGGGAGGTAGGATCTGTTAGGGTCTTCCCGGCCCTGTCATGAGGCTCAGAGGATATGGCTGGGAGTGGGGAAGGGGGCACCGTGGCAGGGCCCAACCTTGCTGTCCTCAAAGACTGGGCTGTCAGGCTCCGAGTCACTGCCACTGCCACCGCTGCCACTGCCCCTGCTGCCAAGGGACAAGGGGCTGCTCTGGAAAGGTGAGCCAGCATCCGAGGGGGGTGGGGTCAGTGTGTCCTCCACCTCAGTCTTCACGCCCTCCATGAGCACGTCTGTGTTCCCTCCACTGCCACAGGCCGACACCAGATCCTTCAGAGATTCTGTGGGCCGAAAGGAACAGAGCCAGGAGTAAAGGCTGGATATGTGACCCCAAATCAGAGCCTAGGCCCTTGGAGGCCTAGGGACTACTGTAGCTCCTAAAGCTAGCCCAGGACGCTTTGATGGGGCTGGGTTAGGGCCAAAGGGAGGCACCAGGTCTCTTTCAGGACCAGAGGTAACCAAGGGACTAGAGCTGAATGCAGGGCTACAGCCAAGGGTGAGGTGGGCAGGGCAGAGGGTGGGCCAGAACCAAGGGTGGGGTGGGGCTAGGGATGGGGTGGGGCCGGGAGGTGGAGCAAGGCTAGAGAAGAGGCCAGACTGGAGCTCAATAAAGCCAGGACTCACTGCTTTTGTGGACAGCAGTGCGCAGACTTAGGTTCTCCTGCTTGAGTTTCTGGTTGCTGTGTTGCAGAAAGCGAATGTAGTCGATGGCCTTGCGCAAGACAGCAGATTTATTCAGCTGCACGGTGTGGGAGGGAGGGGGAGCGCACAGGTGGCCTGTCAGGTCGGGGGTTGTGGGGTTGGAGAGCCCTAGCAAGGGGGTGCGGAGCTGCTTTGCAACATTACTGCCTCAGGACCTTTGCACTTGTTCCTTCTACCTGAACCGTTCCTCGCCTAGTAGCACCCACCTCCCAGGCCGGGCATAGGGTTAGAATGTAAGATGCAGACAGCAGGGTCTGGCTAGCTGCTGCTGTGCCTGCCGCCATCTCAGGGAGGCCTTCCCTGGCTACCACCAGGGGACCCTCACCATCCTCTTCCTGCTTTCTCTGCAACGAGCCAAACGTGGTGGTCTCGAGCACTTATTCATCCTGCCTACTGTCCATCTCCCCCACCAGAAGGTCGGCTCTTCTTTGAGGGACAATTTTTGTCTGTCTTGTTCATTGCTGCATCCCCAATGCCTAGCACAGCCCCACCTTTATTGAAGAGGCCTGCAAACCAGTTTAACTAAATAAACGAGGCTGGCCAGGCCTGGGGAGGCTGAATTCCAATTCCCTGCTTGTCCAGGCTCAGTCTCACTCCCTCTCTTCCTTCCAGTTGCCCCTGATCTGTTCCTTCCTAGGGACACCCCGGTCTGTGCCCCTGCAGGCCTCTCCACACCTTTGCCTCAGTGCCCACCACCAGATCCTTGAGCTCAATGATTTTGTCATTGATGGAGGAGCGGTAGCGCTTCTCAATGGCGTTGTGGGCTGTGCGCTTCTCTCCACGGCTCTGGGCAGAGGCCGGGGCCTTGCTGCCAGCTGCGAGCCGGTTGATAGGCAGCTTCTCCGCATCTACGACCAGTGGGACTGTTGCCAAGATGGTTCCGCCACTCACCAGGGTCTGCAGGGCCAGGCACATGTTACCAGGTGGGCATGTGTGTGTGTGTGTAGACCCCACTCCCTTATGCCCTGCCCACGTCACCCACCGGCAAAGGCC
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TGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCTTCCAAAGGAAAACCGACTTGAGAAGATGCCATTGTTGGCTCCGCTTCCTTACTCCACAGCGGCACTGCCTGGGGTCACTTCTCCAATTAGCCATCTGCCCATCAATCCCTGCATGTGCTTCTGAAAGCCCCAATGGGAACGAGAGGCACCCAGGCCTTTCCCTTCCTGCAACCCCCACAGCAACAACCCATGGCAGGGAGAAGGACTGGGGTGGCCAGAGACAGCCAGAGATTCAGGCGACAAGGGACAGGACAGGAATGAGGATGAGGGACAGGAGAGGGGACAGGGAAGGGGTAAGAGAGCACCTGGGTTCCCGGCCAAGCTGTACAGGCTCTCCCATGGGGTACTGAGCACGGACCAGTCCCCATCCACGAAGAAACGGTGGCCCACGGGGTGGCAGAGCCACTGCATGGCAGGAGGCACTGAGCCACTCTGTGCCAGGCAGGCCTGGCGGGCACTGCTCAGGAAGAAGCGCTGTAGGGGAGGGTACTGGGCTGTCACAGTGGACACAGCCTGGGGCCAGACCCCGGGCCGAGTCCCAGCTTGGCCTGGAGTCCCCCTGGTAACCACTGCCACATCCCGTGTAGCTCTTACCCAGGGAGCCTCTGGAGAGAGCTGCAGGGATAAGCCCCCAGCCCCCCAACCCACTCACTGTCAGAAAATGCAAGGCCCGTGGGAGACTGGTCTTCACTCTCAATGCAGCCGCCACATAGATCTCGGCCAGCGTCGCCACAGACACGGCATCCCCTGCACACTCTGCCAGGTTCAGGGCACTCAGCGCCAGGTTGGTGGCAGTGAGGTGCCCGCCTGTGTGCTTCCCTGGAAGGCAAGCAGGCATGAGGCTGTGGGTGGAGCACAGGCAGCAGGGAGCACCTCGGAGCCCGCCCCACGCTCAGTCCTACCCATGGTGTGCAGCTGGTGCAGCTTATGGTAGACCAGGGCTGCGTCTCGGGCGCTGGCGCTAGCATCCACTCGCAGAGCACAGTCCTGCTGCAGGCCCCCTGCCCGGCCTGCCAGCCAGCGGCCCACCCAGAGACGCTGCAGCAGGTGACGGATGAGGTTCCAGAGGAGGCTACAAGCCAGGTCCAGGTGGGAGGTGGGCAGGGGCCGGCCCAGTGCCCGCAGGGCCAGCCACAGCTGCTGGGCAGCCTGGGCAAAGTCTCCCTGTGGATGAGGGTTTTCCAGGTGAGAAAAGTGAGGTCAGAGCAGCTGCCCCAAAGCTCAGAAGAGCCGTCCACAGCAGGCTCTGGAGGGGTGGTGGGGGTCTGCGGATGCGTGGCTAGGCACAGGGAGGACGGGACAGATTCATGGTGTGCACAGGGAGCAGGAACAAGGGTTGACACCCAGCACCTTCACAGCCTGGGGTCCCTGCCCTGCCCACTCTGCCGGGGCCAGCCCCTTACCCGGGCCAGGTCCAGGTCAGCCTGCTTGCGATGCCTCCAGAAGTACACGGCGGGGCCTGAGTGGGGCCGTGTGACTGGCTCACCGTAGACAAAGAGAAGCACCAAGGAGACGAGCACCAACAGCCCATTGAGCAGCCAGACCACTGGGGGCAGCAGCCACTGGGCCCAGCCAGGGCCATCTATGGACAGAGGGAAAGCTGGGGACACAGCTCCCAGGAAATCCAGAGCCCCAAGTTCACAAGCCTGGGGGCTCACCCCGAGTGTCCCTCCCAAAGATGCCCAGGCTGGCCGGTCCCACCTCTGCTCTCGGTGCCCAGCACGTTGCACCCAGGGCTATGGTAGACGCTGGTGGTATCTGAGGGGCTGGGAAGCCCCCGGGCCCCCAGCAAGGAGGCCAAGGGGTTGCAGGACAGGCAGAGGAAGACGAGCGTGCACAGGGCCAGGCGGGAGCGGTCCAGCATGCCCCGGCTGTGCAGAGACGGCCGCTGCTCTGGCTTTGCCTGGTGGGGTTGGGCAGGGTGGTGAGGGCAGAATCGGAGGGACCCCAGAGAGCATGGGGCTGGGAAGGGGGGGGTCAGGATTCTGCCCACCTTACTGTGGGACCCCACGTGGCTCCAGGCCTCAGTTATTCTGTCTATGAAATGGGAGGTAGGATCTGTTAGGGTCTTCCCGGCCCTGTCATGAGGCTCAGAGGATATGGCTGGGAGTGGGGAAGGGGGCACCGTGGCAGGGCCCAACCTTGCTGTCCTCAAAGACTGGGCTGTCAGGCTCCGAGTCACTGCCACTGCCACCGCTGCCACTGCCCCTGCTGCCAAGGGACAAGGGGCTGCTCTGGAAAGGTGAGCCAGCATCCGAGGGGGGTGGGGTCAGTGTGTCCTCCACCTCAGTCTTCACGCCCTCCATGAGCACGTCTGTGTTCCCTCCACTGCCACAGGCCGACACCAGATCCTTCAGAGATTCTGTGGGCCGAAAGGAACAGAGCCAGGAGTAAAGGCTGGATATGTGACCCCAAATCAGAGCCTAGGCCCTTGGAGGCCTAGGGACTACTGTAGCTCCTAAAGCTAGCCCAGGACGCTTTGATGGGGCTGGGTTAGGGCCAAAGGGAGGCACCAGGTCTCTTTCAGGACCAGAGGTAACCAAGGGACTAGAGCTGAATGCAGGGCTACAGCCAAGGGTGAGGTGGGCAGGGCAGAGGGTGGGCCAGAACCAAGGGTGGGGTGGGGCTAGGGATGGGGTGGGGCCGGGAGGTGGAGCAAGGCTAGAGAAGAGGCCAGACTGGAGCTCAATAAAGCCAGGACTCACTGCTTTTGTGGACAGCAGTGCGCAGACTTAGGTTCTCCTGCTTGAGTTTCTGGTTGCTGTGTTGCAGAAAGCGAATGTAGTCGATGGCCTTGCGCAAGACAGCAGATTTATTCAGCTGCACGGTGTGGGAGGGAGGGGGAGCGCACAGGTGGCCTGTCAGGTCGGGGGTTGTGGGGTTGGAGAGCCCTAGCAAGGGGGTGCGGAGCTGCTTTGCAACATTACTGCCTCAGGACCTTTGCACTTGTTCCTTCTACCTGAACCGTTCCTCGCCTAGTAGCACCCACCTCCCAGGCCGGGCATAGGGTTAGAATGTAAGATGCAGACAGCAGGGTCTGGCTAGCTGCTGCTGTGCCTGCCGCCATCTCAGGGAGGCCTTCCCTGGCTACCACCAGGGGACCCTCACCATCCTCTTCCTGCTTTCTCTGCAACGAGCCAAACGTGGTGGTCTCGAGCACTTATTCATCCTGCCTACTGTCCATCTCCCCCACCAGAAGGTCGGCTCTTCTTTGAGGGACAATTTTTGTCTGTCTTGTTCATTGCTGCATCCCCAATGCCTAGCACAGCCCCACCTTTATTGAAGAGGCCTGCAAACCAGTTTAACTAAATAAACGAGGCTGGCCAGGCCTGGGGAGGCTGAATTCCAATTCCCTGCTTGTCCAGGCTCAGTCTCACTCCCTCTCTTCCTTCCAGTTGCCCCTGATCTGTTCCTTCCTAGGGACACCCCGGTCTGTGCCCCTGCAGGCCTCTCCACACCTTTGCCTCAGTGCCCACCACCAGATCCTTGAGCTCAATGATTTTGTCATTGATGGAGGAGCGGTAGCGCTTCTCAATGGCGTTGTGGGCTGTGCGCTTCTCTCCACGGCTCTGGGCAGAGGCCGGGGCCTTGCTGCCAGCTGCGAGCCGGTTGATAGGCAGCTTCTCCGCATCTACGACCAGTGGGACTGTTGCCAAGATGGTTCCGCCACTCACCAGGGTCTGCAGGGCCAGGCACATGTTACCAGGTGGGCATGTGTGTGTGTGTGTAGACCCCACTCCCTTATGCCCTGCCCACGTCACCCACCGGCAAAGGCC
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Task1_train_23847
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A change on Chromosome 17 affects gene ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
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GAGAGGGTTTCTTCTTCCACTGATAACCATCTGGGCAAATCAGGAAAAATAGCCTCAATCCAAGGGGAATGCCCATCTAAATGTCCATTACCAGATGGTGTCGGTGTCCAGAAACTTCACGGCTGCCCGGATCAGCTGATCCTTGTTTCTCTGGGTTGGGTTGTCCAATGATGTGTTGCACAATGTGGTCTGAATCAAAGGCAAAAACCACCCTGTCACTGCCTGCGGGGCTCAGGCAAAAGCCCTGCTTTCCTGAGGACACCACATCTGACACATAGCAGACAGCACCACAGCACAGCCCTCCACCAGAGGCGTCTGCATTACCGGAGCAGCAGCACAGCTACTGAGAGTGTGCCACAACCAGGCTCCATGCCAAATGCTTTGTGTTGACGCTCACAGGACTCGAGGGAAGCTTGCAGCAGCCCCAGGATTAGTGAACCTCCCCCATGGTCACATGCCTTTTATTACCAGGCTCTAGTGTATTTAATTTAATCCTCACAACAACCTTTTGGAGTAGGTACTATTATTATGTCCATCTGGGATGTGAAAACTGAGGCCCAGACAGGTTAAGTACATTGTCAAATACAGTTAATAAGACATGTATTAGTGATGGAGCTCAAATCTGACTGGAAACCTTTACCAGCTGCCTCCCTTACACCTTAGAAAGTAGGGAAATAGCCCATGCAAATCGGGATCAAGATTATTTTTTTCGGCCAAGTGTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCTGGCATGGTGGTGGACGTCTGTAATCCCAGCTGCTTGGGAGGCTGAGACGGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTGCAGCCTGGGCAACAGAGTTAGACTGTTTAAAAAAAAAAAAAAGATCTTTTTTTTTCCAGACTTACCTTGTCAATAATAGGCTGCTTAGGTTACCCTATTCGTTTGTAGCCCTAATCACCCTAATTTCACTAGGTTGTCAAGGACCAGGCCAACCACCTCAGCAGGCTGTGATGTTGGGAGGAGGCCCACCTGGGTTTGCAAAGGTTGAGCACAGCAGCGGCTGGGATGATAGCAGCTGACTCCTGTATTGACTGAGTGCCCAGTCAGTGCTGGGGACCATGCCAAGGGCTTTCTTGCATCATCTCATCTCATCCTGACCACAGCTCCGTGAGGTGGGTACTATTATCACTCATCTTTAATCGGTGGGGAATATGGGGCTGCGAAAGGGGTAGCAACCTGCCCAAGGTTACAGTTTAGAAGCTGCAGAGGCTGGACCTAAGAGTGTAGCTGGGCCCTTCCTTCCCCAGGCAGCCTTGGTGCCTAGGCGAGCCACTTTGGTGTGGACGAGGGGGCTGGTTCTATAGGGAGTCTTCCTCACCTCACCCATCTGCCTCCAGTGGATCTTATATTCAACTAATATTTACTGAGTACCAACTAAATTACCTGCTAGTGGCTGTCCAGACACTGATGAGTAAAACAGACATGGCTCCTGCCCTTCTGTTGCTTACCAGGCAGTGGAAGAGACAGACAATAAATGTGCAAACATAAAACAATTATAAATTGCCTAAGTGCTGACAAAACAAATGGCCAGCTGCTGTCATAGAAAATAAGAGAGCTGGGCAGTCAATGAAGGTGACATCTGTCCTGAAACCAAAGGAGAAACCAGCCATCCAGCACAGTGTTCCTAGGAGAGAGAGCTGCAAGTAGCCGGGCCAGACAAGGAAAGAGTTTAGCACGTTAGTGACTTGAGAGGAGGTGAATCCCTGGGGGCCAGACAGGCAAAGGACCAGCCCCCAGGGCCTTGTCGGAATTTGGTAAAGGGTCTACCCTACGAAGCCCTGGGTGGGTCTCAGGGTCCAGGTTCACACTGTGAACTTGTTACCAGGTGCATGGTGTAGTACTTGATGGTATCCTGCTGGGAATCCCACTCAGTAGCCACTGCAATGGCCAGGGCCTCGCTGGGGACGGTAAAGAGCTTGGCTTGGGGAGTTTTCAGCTTCCTGTGGTCCAGGTTTATCTCAAAGCCACCTTGAAAGATCAAATGAAAAACTCTCAGGGATTTGTTAAGTGGAATCAAGTGACCATTCCTATATTTAGCCACTTGAATTGGTGCAGACAAAGCCAACTCTGAGTCCCTTACAGAAATATATCTCACAAAAAGCAGGAAGGATAATCGCACCATGAAACCAGCTGAAGATGAAAAATGTTCCCAACCATTCACAAAAAAAAAAAAAAAAAGAGGCAGTCAAAATTTCAGACACTCACCTTCACCCTGTGTGATGCTGACATTCTGATAAAACCTCTTCCTTTCTGTAAGAAAGATTTTTCAAAGAGGCAGTTTAAAATAACGTTGAGACAACTCAGGAAGCGACAGGACCAGCTTGTATCATTACTGCTAATGTTGATTGATTGGCTTGATTTTCATATCCCCATTCAAGGTCTGCCCTACTCAACACGGTATAATCAACCGCTTCTGATTAAAGCTGGGGGAAGGGAACATCTGATCTCCAGGGAGAAGGGAGGAACAGAACATGCTGGTCATACCTCTGCCAGCCCCGCAGCCTGGGGACAAGTCTGATCAGGAGCATCTCGGCATGCTCTCCCACCCTCCCCACCACCAGTGCCACCTCATGCCAGCACAACGAGTTCAAACCTAAAGTCGGTGTCTGAGTGGGACAAAGCTAGAGACCCATTTCAGGCAAGACTCTGATGCCTCTAAGGAGTGAGTGGAAAGCCAGTGTGCGTGCGCAGGGTGTGCGTGTGTGATACATCGGCAGGATACAGAGCTCCCAAGGGCATTTCCCATCCCCTCTCTCCAATTAATTAACCTAATTAACCAGCTTGCTTGTGTATCCAACAGGAACTCCAAACATTTCCTTCAAGAATGGGAAAATCTATGTCCTTTGTTTTCTTTTGAAAATAACTTGAATAAAATCTTACATGAAACAGTCTCCTTCTTTTACCCTGGAGGGATTAACAACCAAGAGCACTTCTAAGGAATTATGCAGATTCCCTCAACTGATAACAAAGAAGTCACATTTTGGAAGCTATAAGCTATAACTCAGTCTCTCACATCTGTGACAAACACAAAACTTTCATTCATTCATTCGTTTGTTCACTCGTTCATGTGTTCACTGAGTTCTCAAAGTCTTTGGAGACCCTAACTGAAGTTATTTATTGGAAATAATGATGCAGCATGTGGAAGAAAAAAGAGTAAATCATTTGCTTTATTTATTTATTTTATTATTATTTTTTTTTTGAAATGGCGTCTCACTCTCTTGCCCAGGCTGGAGTGTAGTGGTGCAATCTCAGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCGACTCTCCTGCCTCAGTCCCCTGAGTAGCTGGGATTACAGGCATGCGCCAACACACCAGGCTAATTTTTGAATTTTTAGTAGAGGCAGAGTTTTGCCATGCCAGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTGATCCAACCCGTGAGCCACCATGCCCGGCCAAATAGTTTGCCTTTAACGCTAAAAAAAAAAAAAAAAAAAAAAAAAGGCTGGTCGCAGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGTGGGAAGACTGCTTGAGGCCAGGAGTTCAAGACCCAAGCTGGGCAACATGAGACCCCATCTCTACAAAAAATACAAAAATGAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGCAAGACTCCATCTCAAA
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GAGAGGGTTTCTTCTTCCACTGATAACCATCTGGGCAAATCAGGAAAAATAGCCTCAATCCAAGGGGAATGCCCATCTAAATGTCCATTACCAGATGGTGTCGGTGTCCAGAAACTTCACGGCTGCCCGGATCAGCTGATCCTTGTTTCTCTGGGTTGGGTTGTCCAATGATGTGTTGCACAATGTGGTCTGAATCAAAGGCAAAAACCACCCTGTCACTGCCTGCGGGGCTCAGGCAAAAGCCCTGCTTTCCTGAGGACACCACATCTGACACATAGCAGACAGCACCACAGCACAGCCCTCCACCAGAGGCGTCTGCATTACCGGAGCAGCAGCACAGCTACTGAGAGTGTGCCACAACCAGGCTCCATGCCAAATGCTTTGTGTTGACGCTCACAGGACTCGAGGGAAGCTTGCAGCAGCCCCAGGATTAGTGAACCTCCCCCATGGTCACATGCCTTTTATTACCAGGCTCTAGTGTATTTAATTTAATCCTCACAACAACCTTTTGGAGTAGGTACTATTATTATGTCCATCTGGGATGTGAAAACTGAGGCCCAGACAGGTTAAGTACATTGTCAAATACAGTTAATAAGACATGTATTAGTGATGGAGCTCAAATCTGACTGGAAACCTTTACCAGCTGCCTCCCTTACACCTTAGAAAGTAGGGAAATAGCCCATGCAAATCGGGATCAAGATTATTTTTTTCGGCCAAGTGTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCTGGCATGGTGGTGGACGTCTGTAATCCCAGCTGCTTGGGAGGCTGAGACGGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTATGCCATTGCACTGCAGCCTGGGCAACAGAGTTAGACTGTTTAAAAAAAAAAAAAAGATCTTTTTTTTTCCAGACTTACCTTGTCAATAATAGGCTGCTTAGGTTACCCTATTCGTTTGTAGCCCTAATCACCCTAATTTCACTAGGTTGTCAAGGACCAGGCCAACCACCTCAGCAGGCTGTGATGTTGGGAGGAGGCCCACCTGGGTTTGCAAAGGTTGAGCACAGCAGCGGCTGGGATGATAGCAGCTGACTCCTGTATTGACTGAGTGCCCAGTCAGTGCTGGGGACCATGCCAAGGGCTTTCTTGCATCATCTCATCTCATCCTGACCACAGCTCCGTGAGGTGGGTACTATTATCACTCATCTTTAATCGGTGGGGAATATGGGGCTGCGAAAGGGGTAGCAACCTGCCCAAGGTTACAGTTTAGAAGCTGCAGAGGCTGGACCTAAGAGTGTAGCTGGGCCCTTCCTTCCCCAGGCAGCCTTGGTGCCTAGGCGAGCCACTTTGGTGTGGACGAGGGGGCTGGTTCTATAGGGAGTCTTCCTCACCTCACCCATCTGCCTCCAGTGGATCTTATATTCAACTAATATTTACTGAGTACCAACTAAATTACCTGCTAGTGGCTGTCCAGACACTGATGAGTAAAACAGACATGGCTCCTGCCCTTCTGTTGCTTACCAGGCAGTGGAAGAGACAGACAATAAATGTGCAAACATAAAACAATTATAAATTGCCTAAGTGCTGACAAAACAAATGGCCAGCTGCTGTCATAGAAAATAAGAGAGCTGGGCAGTCAATGAAGGTGACATCTGTCCTGAAACCAAAGGAGAAACCAGCCATCCAGCACAGTGTTCCTAGGAGAGAGAGCTGCAAGTAGCCGGGCCAGACAAGGAAAGAGTTTAGCACGTTAGTGACTTGAGAGGAGGTGAATCCCTGGGGGCCAGACAGGCAAAGGACCAGCCCCCAGGGCCTTGTCGGAATTTGGTAAAGGGTCTACCCTACGAAGCCCTGGGTGGGTCTCAGGGTCCAGGTTCACACTGTGAACTTGTTACCAGGTGCATGGTGTAGTACTTGATGGTATCCTGCTGGGAATCCCTCTCAGTAGCCACTGCAATGGCCAGGGCCTCGCTGGGGACGGTAAAGAGCTTGGCTTGGGGAGTTTTCAGCTTCCTGTGGTCCAGGTTTATCTCAAAGCCACCTTGAAAGATCAAATGAAAAACTCTCAGGGATTTGTTAAGTGGAATCAAGTGACCATTCCTATATTTAGCCACTTGAATTGGTGCAGACAAAGCCAACTCTGAGTCCCTTACAGAAATATATCTCACAAAAAGCAGGAAGGATAATCGCACCATGAAACCAGCTGAAGATGAAAAATGTTCCCAACCATTCACAAAAAAAAAAAAAAAAAGAGGCAGTCAAAATTTCAGACACTCACCTTCACCCTGTGTGATGCTGACATTCTGATAAAACCTCTTCCTTTCTGTAAGAAAGATTTTTCAAAGAGGCAGTTTAAAATAACGTTGAGACAACTCAGGAAGCGACAGGACCAGCTTGTATCATTACTGCTAATGTTGATTGATTGGCTTGATTTTCATATCCCCATTCAAGGTCTGCCCTACTCAACACGGTATAATCAACCGCTTCTGATTAAAGCTGGGGGAAGGGAACATCTGATCTCCAGGGAGAAGGGAGGAACAGAACATGCTGGTCATACCTCTGCCAGCCCCGCAGCCTGGGGACAAGTCTGATCAGGAGCATCTCGGCATGCTCTCCCACCCTCCCCACCACCAGTGCCACCTCATGCCAGCACAACGAGTTCAAACCTAAAGTCGGTGTCTGAGTGGGACAAAGCTAGAGACCCATTTCAGGCAAGACTCTGATGCCTCTAAGGAGTGAGTGGAAAGCCAGTGTGCGTGCGCAGGGTGTGCGTGTGTGATACATCGGCAGGATACAGAGCTCCCAAGGGCATTTCCCATCCCCTCTCTCCAATTAATTAACCTAATTAACCAGCTTGCTTGTGTATCCAACAGGAACTCCAAACATTTCCTTCAAGAATGGGAAAATCTATGTCCTTTGTTTTCTTTTGAAAATAACTTGAATAAAATCTTACATGAAACAGTCTCCTTCTTTTACCCTGGAGGGATTAACAACCAAGAGCACTTCTAAGGAATTATGCAGATTCCCTCAACTGATAACAAAGAAGTCACATTTTGGAAGCTATAAGCTATAACTCAGTCTCTCACATCTGTGACAAACACAAAACTTTCATTCATTCATTCGTTTGTTCACTCGTTCATGTGTTCACTGAGTTCTCAAAGTCTTTGGAGACCCTAACTGAAGTTATTTATTGGAAATAATGATGCAGCATGTGGAAGAAAAAAGAGTAAATCATTTGCTTTATTTATTTATTTTATTATTATTTTTTTTTTGAAATGGCGTCTCACTCTCTTGCCCAGGCTGGAGTGTAGTGGTGCAATCTCAGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCGACTCTCCTGCCTCAGTCCCCTGAGTAGCTGGGATTACAGGCATGCGCCAACACACCAGGCTAATTTTTGAATTTTTAGTAGAGGCAGAGTTTTGCCATGCCAGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTGATCCAACCCGTGAGCCACCATGCCCGGCCAAATAGTTTGCCTTTAACGCTAAAAAAAAAAAAAAAAAAAAAAAAAGGCTGGTCGCAGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGTGGGAAGACTGCTTGAGGCCAGGAGTTCAAGACCCAAGCTGGGCAACATGAGACCCCATCTCTACAAAAAATACAAAAATGAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGCAAGACTCCATCTCAAA
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Task1_train_23848
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This alteration in MYO15A (myosin XVA) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 3
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CCTGTCCCTGTTTCACAGCTGAGCACGTTGAGGCTCTGAAGCCACTGATCTGAGGGCGTGGAGCTGGCAAGTGGCAGAACCAGGGCCAGAACCTTGCTGCTTTGGGGTCTCCTATGCTAAACCTTAAACAACCAAAGAATTAGCTCTGGGACCAAAAGAGTGAACCAGAGTTCAGTGAGTTGAGGTCCATCTTGAGGAGGAAGAGGAGGAGGAGAGCTGGTTCTGAGGCTTCAGGTCTCAGAGCTGCCACTCCCCACCTCCGCTGGCCTGCCCAGTTTTTCCCACCCCCTACCTCTTTTAGTGCAGGTTCTCAAAAGTGAGTTAGACTGGCCACCAACCAGACTTTGGACATGCAGCCTTAGGTCAGGCCATATGAAGCAATCAGCTATGCCCAGAGAAGGCAGTAACCACATGGCCACAGCCTACTCAGCCAGGGCAGAAAGTAAGAGGAGAGGACAGGGCTAGGCAGGGACCCCAGAAAGGAGCCAGCAGGAGGCATCTCCAGTTACCCAGCAGCTCCATCAGGTCTTGCTTCCTTTTGGTGAAGGAGATGGGGCATAGCTTATCACTCCCATTCTTCAGAGGAAACTGAGGCCCAGAGAGGACAAGGACTTTCCTGGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCCTAGGACCTAGAGGGTTCAAAGTTCTCCTCCAAGATGACTTGGTGGGCTTTGGCCATCCCACCCTAGGCCCCACTTCTGGCCCAGTGCAGGTGTGCTGGTGATTTAGGGCAGGTGGCATTCCATCTCTGTGGCTCAATGTCTTCCTCTGTGAAGCCGAAGTGACCCAAGGGCTCCCTTCATGGGGTTGAGCCAGCTGTGGCCCAGGGAGGGCCTAACCAGGATGAGCACTGATGTTGCCATGACGACTCCGAGGCCAGAATGTCTCCCCCAGCACAGGCCTCATAGGCAGGCTTCCCCATCCTGGTAAACAACACCCACACACTTTCTACTACTGCTCTAGGGTGAAACCCAAGGCGCTCTAGAGGAGATGAATTATGGATCCGCCCTCCCGGAATCCTGGCTCGGCCCTCCCCACGCCACCCAGGGCCAGTCGGGTCTGCTCACAGCCCGAGGAGGCCGCGTGTCCAGCCGCGGGCAAGAGACAGAGCAGGTCCCTGTGTCTCCAAGTCCCTGAGCCCGTGACACCGGCCCCAGGCCCTGTAGAGAGCAGGCAGCCACCATGGCGAAGGAGGAAGATGAGGAGAAGAAAGCCAAGAAAGGGAAGAAGGGGAAGAAGGCACCGGAGCCGGAGAAGCCCAAACGGAGCCTGAAGGGGACGTCGCGGCTGTTCATGGGCTTCCGCGACCGTACACCCAAGATCTCCAAGAAGGGCCAGTTCCGCAGCGCCTCGGCCTTCTTCTGGGGCCTCCACACCGGCCCCCAGAAGACCAAGCGCAAGAGGAAGGCCCGCACCGTGCTCAAGTCCACGTCAAAGCTCATGACGCAGATGCGCATGGGCAAGAAGAAGCGGGCGATGAAGGGCAAGAAGCCGTCCTTCATGGTGATCCGCTTCCCAGGCCGCCGTGGCTACGGCCGCCTGCGGCCGCGCGCCCGGTCACTCAGCAAAGCGTCCACGGCCATCAACTGGCTCACAAAAAAGTTCCTCCTCAAGAAGGCCGAGGAGTCGGGCAGCGAACAGGCCACAGTGGACGCCTGGCTGCAGCGCTCGAGCTCCCGCATGGGCTCCCGCAAACTCCCCTTCCCGTCGGGTGCCGAGATCCTGCGGCCTGGGGGCCGGCTCCGGAGGTTCCCCCGCAGCCGCAGCATCTACGCGTCAGGCGAGCCCCTGGGCTTCCTGCCCTTCGAGGACGAGGCCCCATTCCATCACTCGGGCTCCCGCAAGTCGCTGTACGGGCTTGAGGGCTTCCAGGACCTGGGCGAGTATTATGACTATCACCGCGACGGCGACGACTACTACGACCGGCAGTCACTCCACCGCTACGAGGAGCAGGAACCCTACCTGGCGGGCCTCGGCCCCTACAGCCCGGCCTGGCCACCCTACGGCGACCACTACTACGGGTACCCGCCCGAGGATCCCTACGACTACTACCACCCCGACTATTACGGTGGCCCCTTTGATCCGGGGTACACCTACGGCTACGGCTACGACGATTACGAACCCCCATATGCGCCCCCGTCGGGGTACTCGTCTCCTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATGGCTACTACCTGGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATGACCTCCCATACCACACTCCCTACGATGTACCCTACTTTGATCCCTACGGAGTCCACTACACCGTCCCCTATGCCGAAGGCGTCTATGGCGGTGGGGACGAGGCCATCTACCCCCCCGAGGTGCCCTATTTTTACCCGGAGGAGTCGGCTTCGGCCTTTGTGTACCCCTGGGTACCACCGCCCATCCCGTCGCCCCACAACCCGTATGCCCACGCCATGGATGACATCGCCGAGCTGGAGGAACCAGAGGACGCGGGCGTAGAGCGTCAGGGGACCTCCTTCCGCCTGCCCAGCGCCGCCTTCTTCGAGCAGCAAGGCATGGATAAGCCCGCCAGGTCCAAGCTGTCCCTCATCCGCAAGTTCCGCCTCTTCCCGCGACCCCAGGTGAAGCTGTTTGGGAAGGAGAAGCTGGAGGTGCCCCTGCCACCCTCTCTGGACATTCCTCTCCCCTTGGGGGATGCGGACGAAGAAGAGGACGAGGAGGAGCTGCCCCCGGTTTCCGCTGTGCCCTACGGCCACCCTTTCTGGGGCTTCCTCACGCCGCGCCAGCGCAACCTCCAGCGCGCGCTGTCGGCCTTCGGCGCCCACCGGGGCCTGGGCTTCGGCCCTGAGTTTGGCCGCCCCGTGCCTCGCCCTGCCACCTCGCTTGCGCGGTTCCTCAAGAAGACGCTGTCGGAGAAGAAGCCCATCGCGCGGCTCAGGGGCAGCCAGAAGGCCCGGGCGGGCGGCCCTGCTGTCAGGGAGGCGGCCTACAAACGCTTCGGCTACAAGCTGGCTGGCATGGACCCCGAGAAGCCCGGCACGCCCATCGTGCTGAGGAGGGCCCAGCCACGCGCTCGCAGCAGCAACGACGCGCGCCGCCCGCCCGCGCCACAGCCCGCGCCCAGGACCCTCTCCCACTGGAGCGCGCTCCTGTCTCCGCCCGTGCCCCCGCGGCCCCCAAGCTCCGGGCCCCCGCCCGCGCCGCCGCTCTCCCCGGCGCTCTCGGGCCTGCCCCGGCCGGCCTCGCCCTACGGCTCCCTCCGCCGCCACCCGCCGCCCTGGGCCGCCCCAGCGCACGTGCCACCGGCGCCGCAGGCCAGCTGGTGGGCCTTCGTGGAGCCCCCTGCCGTGAGCCCGGAGGTGCCCCCCGACCTACTAGCCTTCCCAGGGCCCCGACCCTCGTTCAGGGGCTCCCGCCGGAGAGGGGCGGCTTTCGGCTTCCCCGGGGCCTCTCCACGGGCGTCGCGGAGGCGAGCTTGGTCACCGCTGGCCTCGCCCCAGCCCTCGCTGAGGAGCTCGCCGGGCCTCGGCTACTGCTCACCCTTGGCGCCCCCGTCGCCTCAGCTGTCCTTGCGCACGGGCCCCTTCCAGCCGCCCTTCCTGCCCCCGGCCCGCCGGCCCCGCTCGCTGCAGGAGTCCCCAGCCCCACGCCGAGCCGCTGGGCGCCTGGGCCCACCCGGCTCGCCGCTGCCGGGCTCACCCAGGCCGCCCTCGCCGCCCCTGGGGCTCTGCCACAGCCCGCGGCGCAGCTCCCTGAATCTGCCCTCGCGCCTCCCGCACACGTGGCGGCGCCTCAGCGAGCCACCCACTCGGGCTGTGAAG
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CCTGTCCCTGTTTCACAGCTGAGCACGTTGAGGCTCTGAAGCCACTGATCTGAGGGCGTGGAGCTGGCAAGTGGCAGAACCAGGGCCAGAACCTTGCTGCTTTGGGGTCTCCTATGCTAAACCTTAAACAACCAAAGAATTAGCTCTGGGACCAAAAGAGTGAACCAGAGTTCAGTGAGTTGAGGTCCATCTTGAGGAGGAAGAGGAGGAGGAGAGCTGGTTCTGAGGCTTCAGGTCTCAGAGCTGCCACTCCCCACCTCCGCTGGCCTGCCCAGTTTTTCCCACCCCCTACCTCTTTTAGTGCAGGTTCTCAAAAGTGAGTTAGACTGGCCACCAACCAGACTTTGGACATGCAGCCTTAGGTCAGGCCATATGAAGCAATCAGCTATGCCCAGAGAAGGCAGTAACCACATGGCCACAGCCTACTCAGCCAGGGCAGAAAGTAAGAGGAGAGGACAGGGCTAGGCAGGGACCCCAGAAAGGAGCCAGCAGGAGGCATCTCCAGTTACCCAGCAGCTCCATCAGGTCTTGCTTCCTTTTGGTGAAGGAGATGGGGCATAGCTTATCACTCCCATTCTTCAGAGGAAACTGAGGCCCAGAGAGGACAAGGACTTTCCTGGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCCTAGGACCTAGAGGGTTCAAAGTTCTCCTCCAAGATGACTTGGTGGGCTTTGGCCATCCCACCCTAGGCCCCACTTCTGGCCCAGTGCAGGTGTGCTGGTGATTTAGGGCAGGTGGCATTCCATCTCTGTGGCTCAATGTCTTCCTCTGTGAAGCCGAAGTGACCCAAGGGCTCCCTTCATGGGGTTGAGCCAGCTGTGGCCCAGGGAGGGCCTAACCAGGATGAGCACTGATGTTGCCATGACGACTCCGAGGCCAGAATGTCTCCCCCAGCACAGGCCTCATAGGCAGGCTTCCCCATCCTGGTAAACAACACCCACACACTTTCTACTACTGCTCTAGGGTGAAACCCAAGGCGCTCTAGAGGAGATGAATTATGGATCCGCCCTCCCGGAATCCTGGCTCGGCCCTCCCCACGCCACCCAGGGCCAGTCGGGTCTGCTCACAGCCCGAGGAGGCCGCGTGTCCAGCCGCGGGCAAGAGACAGAGCAGGTCCCTGTGTCTCCAAGTCCCTGAGCCCGTGACACCGGCCCCAGGCCCTGTAGAGAGCAGGCAGCCACCATGGCGAAGGAGGAAGATGAGGAGAAGAAAGCCAAGAAAGGGAAGAAGGGGAAGAAGGCACCGGAGCCGGAGAAGCCCAAACGGAGCCTGAAGGGGACGTCGCGGCTGTTCATGGGCTTCCGCGACCGTACACCCAAGATCTCCAAGAAGGGCCAGTTCCGCAGCGCCTCGGCCTTCTTCTGGGGCCTCCACACCGGCCCCCAGAAGACCAAGCGCAAGAGGAAGGCCCGCACCGTGCTCAAGTCCACGTCAAAGCTCATGACGCAGATGCGCATGGGCAAGAAGAAGCGGGCGATGAAGGGCAAGAAGCCGTCCTTCATGGTGATCCGCTTCCCAGGCCGCCGTGGCTACGGCCGCCTGCGGCCGCGCGCCCGGTCACTCAGCAAAGCGTCCACGGCCATCAACTGGCTCACAAAAAAGTTCCTCCTCAAGAAGGCCGAGGAGTCGGGCAGCGAACAGGCCACAGTGGACGCCTGGCTGCAGCGCTCGAGCTCCCGCATGGGCTCCCGCAAACTCCCCTTCCCGTCGGGTGCCGAGATCCTGCGGCCTGGGGGCCGGCTCCGGAGGTTCCCCCGCAGCCGCAGCATCTACGCGTCAGGCGAGCACCTGGGCTTCCTGCCCTTCGAGGACGAGGCCCCATTCCATCACTCGGGCTCCCGCAAGTCGCTGTACGGGCTTGAGGGCTTCCAGGACCTGGGCGAGTATTATGACTATCACCGCGACGGCGACGACTACTACGACCGGCAGTCACTCCACCGCTACGAGGAGCAGGAACCCTACCTGGCGGGCCTCGGCCCCTACAGCCCGGCCTGGCCACCCTACGGCGACCACTACTACGGGTACCCGCCCGAGGATCCCTACGACTACTACCACCCCGACTATTACGGTGGCCCCTTTGATCCGGGGTACACCTACGGCTACGGCTACGACGATTACGAACCCCCATATGCGCCCCCGTCGGGGTACTCGTCTCCTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATGGCTACTACCTGGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATGACCTCCCATACCACACTCCCTACGATGTACCCTACTTTGATCCCTACGGAGTCCACTACACCGTCCCCTATGCCGAAGGCGTCTATGGCGGTGGGGACGAGGCCATCTACCCCCCCGAGGTGCCCTATTTTTACCCGGAGGAGTCGGCTTCGGCCTTTGTGTACCCCTGGGTACCACCGCCCATCCCGTCGCCCCACAACCCGTATGCCCACGCCATGGATGACATCGCCGAGCTGGAGGAACCAGAGGACGCGGGCGTAGAGCGTCAGGGGACCTCCTTCCGCCTGCCCAGCGCCGCCTTCTTCGAGCAGCAAGGCATGGATAAGCCCGCCAGGTCCAAGCTGTCCCTCATCCGCAAGTTCCGCCTCTTCCCGCGACCCCAGGTGAAGCTGTTTGGGAAGGAGAAGCTGGAGGTGCCCCTGCCACCCTCTCTGGACATTCCTCTCCCCTTGGGGGATGCGGACGAAGAAGAGGACGAGGAGGAGCTGCCCCCGGTTTCCGCTGTGCCCTACGGCCACCCTTTCTGGGGCTTCCTCACGCCGCGCCAGCGCAACCTCCAGCGCGCGCTGTCGGCCTTCGGCGCCCACCGGGGCCTGGGCTTCGGCCCTGAGTTTGGCCGCCCCGTGCCTCGCCCTGCCACCTCGCTTGCGCGGTTCCTCAAGAAGACGCTGTCGGAGAAGAAGCCCATCGCGCGGCTCAGGGGCAGCCAGAAGGCCCGGGCGGGCGGCCCTGCTGTCAGGGAGGCGGCCTACAAACGCTTCGGCTACAAGCTGGCTGGCATGGACCCCGAGAAGCCCGGCACGCCCATCGTGCTGAGGAGGGCCCAGCCACGCGCTCGCAGCAGCAACGACGCGCGCCGCCCGCCCGCGCCACAGCCCGCGCCCAGGACCCTCTCCCACTGGAGCGCGCTCCTGTCTCCGCCCGTGCCCCCGCGGCCCCCAAGCTCCGGGCCCCCGCCCGCGCCGCCGCTCTCCCCGGCGCTCTCGGGCCTGCCCCGGCCGGCCTCGCCCTACGGCTCCCTCCGCCGCCACCCGCCGCCCTGGGCCGCCCCAGCGCACGTGCCACCGGCGCCGCAGGCCAGCTGGTGGGCCTTCGTGGAGCCCCCTGCCGTGAGCCCGGAGGTGCCCCCCGACCTACTAGCCTTCCCAGGGCCCCGACCCTCGTTCAGGGGCTCCCGCCGGAGAGGGGCGGCTTTCGGCTTCCCCGGGGCCTCTCCACGGGCGTCGCGGAGGCGAGCTTGGTCACCGCTGGCCTCGCCCCAGCCCTCGCTGAGGAGCTCGCCGGGCCTCGGCTACTGCTCACCCTTGGCGCCCCCGTCGCCTCAGCTGTCCTTGCGCACGGGCCCCTTCCAGCCGCCCTTCCTGCCCCCGGCCCGCCGGCCCCGCTCGCTGCAGGAGTCCCCAGCCCCACGCCGAGCCGCTGGGCGCCTGGGCCCACCCGGCTCGCCGCTGCCGGGCTCACCCAGGCCGCCCTCGCCGCCCCTGGGGCTCTGCCACAGCCCGCGGCGCAGCTCCCTGAATCTGCCCTCGCGCCTCCCGCACACGTGGCGGCGCCTCAGCGAGCCACCCACTCGGGCTGTGAAG
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Task1_train_23849
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An alteration has been detected in MYO15A (myosin XVA) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 3
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AATTAGCTCTGGGACCAAAAGAGTGAACCAGAGTTCAGTGAGTTGAGGTCCATCTTGAGGAGGAAGAGGAGGAGGAGAGCTGGTTCTGAGGCTTCAGGTCTCAGAGCTGCCACTCCCCACCTCCGCTGGCCTGCCCAGTTTTTCCCACCCCCTACCTCTTTTAGTGCAGGTTCTCAAAAGTGAGTTAGACTGGCCACCAACCAGACTTTGGACATGCAGCCTTAGGTCAGGCCATATGAAGCAATCAGCTATGCCCAGAGAAGGCAGTAACCACATGGCCACAGCCTACTCAGCCAGGGCAGAAAGTAAGAGGAGAGGACAGGGCTAGGCAGGGACCCCAGAAAGGAGCCAGCAGGAGGCATCTCCAGTTACCCAGCAGCTCCATCAGGTCTTGCTTCCTTTTGGTGAAGGAGATGGGGCATAGCTTATCACTCCCATTCTTCAGAGGAAACTGAGGCCCAGAGAGGACAAGGACTTTCCTGGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCCTAGGACCTAGAGGGTTCAAAGTTCTCCTCCAAGATGACTTGGTGGGCTTTGGCCATCCCACCCTAGGCCCCACTTCTGGCCCAGTGCAGGTGTGCTGGTGATTTAGGGCAGGTGGCATTCCATCTCTGTGGCTCAATGTCTTCCTCTGTGAAGCCGAAGTGACCCAAGGGCTCCCTTCATGGGGTTGAGCCAGCTGTGGCCCAGGGAGGGCCTAACCAGGATGAGCACTGATGTTGCCATGACGACTCCGAGGCCAGAATGTCTCCCCCAGCACAGGCCTCATAGGCAGGCTTCCCCATCCTGGTAAACAACACCCACACACTTTCTACTACTGCTCTAGGGTGAAACCCAAGGCGCTCTAGAGGAGATGAATTATGGATCCGCCCTCCCGGAATCCTGGCTCGGCCCTCCCCACGCCACCCAGGGCCAGTCGGGTCTGCTCACAGCCCGAGGAGGCCGCGTGTCCAGCCGCGGGCAAGAGACAGAGCAGGTCCCTGTGTCTCCAAGTCCCTGAGCCCGTGACACCGGCCCCAGGCCCTGTAGAGAGCAGGCAGCCACCATGGCGAAGGAGGAAGATGAGGAGAAGAAAGCCAAGAAAGGGAAGAAGGGGAAGAAGGCACCGGAGCCGGAGAAGCCCAAACGGAGCCTGAAGGGGACGTCGCGGCTGTTCATGGGCTTCCGCGACCGTACACCCAAGATCTCCAAGAAGGGCCAGTTCCGCAGCGCCTCGGCCTTCTTCTGGGGCCTCCACACCGGCCCCCAGAAGACCAAGCGCAAGAGGAAGGCCCGCACCGTGCTCAAGTCCACGTCAAAGCTCATGACGCAGATGCGCATGGGCAAGAAGAAGCGGGCGATGAAGGGCAAGAAGCCGTCCTTCATGGTGATCCGCTTCCCAGGCCGCCGTGGCTACGGCCGCCTGCGGCCGCGCGCCCGGTCACTCAGCAAAGCGTCCACGGCCATCAACTGGCTCACAAAAAAGTTCCTCCTCAAGAAGGCCGAGGAGTCGGGCAGCGAACAGGCCACAGTGGACGCCTGGCTGCAGCGCTCGAGCTCCCGCATGGGCTCCCGCAAACTCCCCTTCCCGTCGGGTGCCGAGATCCTGCGGCCTGGGGGCCGGCTCCGGAGGTTCCCCCGCAGCCGCAGCATCTACGCGTCAGGCGAGCCCCTGGGCTTCCTGCCCTTCGAGGACGAGGCCCCATTCCATCACTCGGGCTCCCGCAAGTCGCTGTACGGGCTTGAGGGCTTCCAGGACCTGGGCGAGTATTATGACTATCACCGCGACGGCGACGACTACTACGACCGGCAGTCACTCCACCGCTACGAGGAGCAGGAACCCTACCTGGCGGGCCTCGGCCCCTACAGCCCGGCCTGGCCACCCTACGGCGACCACTACTACGGGTACCCGCCCGAGGATCCCTACGACTACTACCACCCCGACTATTACGGTGGCCCCTTTGATCCGGGGTACACCTACGGCTACGGCTACGACGATTACGAACCCCCATATGCGCCCCCGTCGGGGTACTCGTCTCCTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATGGCTACTACCTGGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATGACCTCCCATACCACACTCCCTACGATGTACCCTACTTTGATCCCTACGGAGTCCACTACACCGTCCCCTATGCCGAAGGCGTCTATGGCGGTGGGGACGAGGCCATCTACCCCCCCGAGGTGCCCTATTTTTACCCGGAGGAGTCGGCTTCGGCCTTTGTGTACCCCTGGGTACCACCGCCCATCCCGTCGCCCCACAACCCGTATGCCCACGCCATGGATGACATCGCCGAGCTGGAGGAACCAGAGGACGCGGGCGTAGAGCGTCAGGGGACCTCCTTCCGCCTGCCCAGCGCCGCCTTCTTCGAGCAGCAAGGCATGGATAAGCCCGCCAGGTCCAAGCTGTCCCTCATCCGCAAGTTCCGCCTCTTCCCGCGACCCCAGGTGAAGCTGTTTGGGAAGGAGAAGCTGGAGGTGCCCCTGCCACCCTCTCTGGACATTCCTCTCCCCTTGGGGGATGCGGACGAAGAAGAGGACGAGGAGGAGCTGCCCCCGGTTTCCGCTGTGCCCTACGGCCACCCTTTCTGGGGCTTCCTCACGCCGCGCCAGCGCAACCTCCAGCGCGCGCTGTCGGCCTTCGGCGCCCACCGGGGCCTGGGCTTCGGCCCTGAGTTTGGCCGCCCCGTGCCTCGCCCTGCCACCTCGCTTGCGCGGTTCCTCAAGAAGACGCTGTCGGAGAAGAAGCCCATCGCGCGGCTCAGGGGCAGCCAGAAGGCCCGGGCGGGCGGCCCTGCTGTCAGGGAGGCGGCCTACAAACGCTTCGGCTACAAGCTGGCTGGCATGGACCCCGAGAAGCCCGGCACGCCCATCGTGCTGAGGAGGGCCCAGCCACGCGCTCGCAGCAGCAACGACGCGCGCCGCCCGCCCGCGCCACAGCCCGCGCCCAGGACCCTCTCCCACTGGAGCGCGCTCCTGTCTCCGCCCGTGCCCCCGCGGCCCCCAAGCTCCGGGCCCCCGCCCGCGCCGCCGCTCTCCCCGGCGCTCTCGGGCCTGCCCCGGCCGGCCTCGCCCTACGGCTCCCTCCGCCGCCACCCGCCGCCCTGGGCCGCCCCAGCGCACGTGCCACCGGCGCCGCAGGCCAGCTGGTGGGCCTTCGTGGAGCCCCCTGCCGTGAGCCCGGAGGTGCCCCCCGACCTACTAGCCTTCCCAGGGCCCCGACCCTCGTTCAGGGGCTCCCGCCGGAGAGGGGCGGCTTTCGGCTTCCCCGGGGCCTCTCCACGGGCGTCGCGGAGGCGAGCTTGGTCACCGCTGGCCTCGCCCCAGCCCTCGCTGAGGAGCTCGCCGGGCCTCGGCTACTGCTCACCCTTGGCGCCCCCGTCGCCTCAGCTGTCCTTGCGCACGGGCCCCTTCCAGCCGCCCTTCCTGCCCCCGGCCCGCCGGCCCCGCTCGCTGCAGGAGTCCCCAGCCCCACGCCGAGCCGCTGGGCGCCTGGGCCCACCCGGCTCGCCGCTGCCGGGCTCACCCAGGCCGCCCTCGCCGCCCCTGGGGCTCTGCCACAGCCCGCGGCGCAGCTCCCTGAATCTGCCCTCGCGCCTCCCGCACACGTGGCGGCGCCTCAGCGAGCCACCCACTCGGGCTGTGAAGCCGCAAGTGCGCCTGCCCTTCCACCGACCGCCCAGGGCCGGGGCCTGGCGGGCGCCCCTGGAACACCGGGAGAGCCCGCGAGAACCCGAGGACTCAGAGACGCCCTGGACTGTGCCCCCACTGGCCCCCAGCTGGGA
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AATTAGCTCTGGGACCAAAAGAGTGAACCAGAGTTCAGTGAGTTGAGGTCCATCTTGAGGAGGAAGAGGAGGAGGAGAGCTGGTTCTGAGGCTTCAGGTCTCAGAGCTGCCACTCCCCACCTCCGCTGGCCTGCCCAGTTTTTCCCACCCCCTACCTCTTTTAGTGCAGGTTCTCAAAAGTGAGTTAGACTGGCCACCAACCAGACTTTGGACATGCAGCCTTAGGTCAGGCCATATGAAGCAATCAGCTATGCCCAGAGAAGGCAGTAACCACATGGCCACAGCCTACTCAGCCAGGGCAGAAAGTAAGAGGAGAGGACAGGGCTAGGCAGGGACCCCAGAAAGGAGCCAGCAGGAGGCATCTCCAGTTACCCAGCAGCTCCATCAGGTCTTGCTTCCTTTTGGTGAAGGAGATGGGGCATAGCTTATCACTCCCATTCTTCAGAGGAAACTGAGGCCCAGAGAGGACAAGGACTTTCCTGGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCCTAGGACCTAGAGGGTTCAAAGTTCTCCTCCAAGATGACTTGGTGGGCTTTGGCCATCCCACCCTAGGCCCCACTTCTGGCCCAGTGCAGGTGTGCTGGTGATTTAGGGCAGGTGGCATTCCATCTCTGTGGCTCAATGTCTTCCTCTGTGAAGCCGAAGTGACCCAAGGGCTCCCTTCATGGGGTTGAGCCAGCTGTGGCCCAGGGAGGGCCTAACCAGGATGAGCACTGATGTTGCCATGACGACTCCGAGGCCAGAATGTCTCCCCCAGCACAGGCCTCATAGGCAGGCTTCCCCATCCTGGTAAACAACACCCACACACTTTCTACTACTGCTCTAGGGTGAAACCCAAGGCGCTCTAGAGGAGATGAATTATGGATCCGCCCTCCCGGAATCCTGGCTCGGCCCTCCCCACGCCACCCAGGGCCAGTCGGGTCTGCTCACAGCCCGAGGAGGCCGCGTGTCCAGCCGCGGGCAAGAGACAGAGCAGGTCCCTGTGTCTCCAAGTCCCTGAGCCCGTGACACCGGCCCCAGGCCCTGTAGAGAGCAGGCAGCCACCATGGCGAAGGAGGAAGATGAGGAGAAGAAAGCCAAGAAAGGGAAGAAGGGGAAGAAGGCACCGGAGCCGGAGAAGCCCAAACGGAGCCTGAAGGGGACGTCGCGGCTGTTCATGGGCTTCCGCGACCGTACACCCAAGATCTCCAAGAAGGGCCAGTTCCGCAGCGCCTCGGCCTTCTTCTGGGGCCTCCACACCGGCCCCCAGAAGACCAAGCGCAAGAGGAAGGCCCGCACCGTGCTCAAGTCCACGTCAAAGCTCATGACGCAGATGCGCATGGGCAAGAAGAAGCGGGCGATGAAGGGCAAGAAGCCGTCCTTCATGGTGATCCGCTTCCCAGGCCGCCGTGGCTACGGCCGCCTGCGGCCGCGCGCCCGGTCACTCAGCAAAGCGTCCACGGCCATCAACTGGCTCACAAAAAAGTTCCTCCTCAAGAAGGCCGAGGAGTCGGGCAGCGAACAGGCCACAGTGGACGCCTGGCTGCAGCGCTCGAGCTCCCGCATGGGCTCCCGCAAACTCCCCTTCCCGTCGGGTGCCGAGATCCTGCGGCCTGGGGGCCGGCTCCGGAGGTTCCCCCGCAGCCGCAGCATCTACGCGTCAGGCGAGCCCCTGGGCTTCCTGCCCTTCGAGGACGAGGCCCCATTCCATCACTCGGGCTCCCGCAAGTCGCTGTACGGGCTTGAGGGCTTCCAGGACCTGGGCGAGTATTATGACTATCACCGCGACGGCGACGACTACTACGACGGGCAGTCACTCCACCGCTACGAGGAGCAGGAACCCTACCTGGCGGGCCTCGGCCCCTACAGCCCGGCCTGGCCACCCTACGGCGACCACTACTACGGGTACCCGCCCGAGGATCCCTACGACTACTACCACCCCGACTATTACGGTGGCCCCTTTGATCCGGGGTACACCTACGGCTACGGCTACGACGATTACGAACCCCCATATGCGCCCCCGTCGGGGTACTCGTCTCCTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATGGCTACTACCTGGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATGACCTCCCATACCACACTCCCTACGATGTACCCTACTTTGATCCCTACGGAGTCCACTACACCGTCCCCTATGCCGAAGGCGTCTATGGCGGTGGGGACGAGGCCATCTACCCCCCCGAGGTGCCCTATTTTTACCCGGAGGAGTCGGCTTCGGCCTTTGTGTACCCCTGGGTACCACCGCCCATCCCGTCGCCCCACAACCCGTATGCCCACGCCATGGATGACATCGCCGAGCTGGAGGAACCAGAGGACGCGGGCGTAGAGCGTCAGGGGACCTCCTTCCGCCTGCCCAGCGCCGCCTTCTTCGAGCAGCAAGGCATGGATAAGCCCGCCAGGTCCAAGCTGTCCCTCATCCGCAAGTTCCGCCTCTTCCCGCGACCCCAGGTGAAGCTGTTTGGGAAGGAGAAGCTGGAGGTGCCCCTGCCACCCTCTCTGGACATTCCTCTCCCCTTGGGGGATGCGGACGAAGAAGAGGACGAGGAGGAGCTGCCCCCGGTTTCCGCTGTGCCCTACGGCCACCCTTTCTGGGGCTTCCTCACGCCGCGCCAGCGCAACCTCCAGCGCGCGCTGTCGGCCTTCGGCGCCCACCGGGGCCTGGGCTTCGGCCCTGAGTTTGGCCGCCCCGTGCCTCGCCCTGCCACCTCGCTTGCGCGGTTCCTCAAGAAGACGCTGTCGGAGAAGAAGCCCATCGCGCGGCTCAGGGGCAGCCAGAAGGCCCGGGCGGGCGGCCCTGCTGTCAGGGAGGCGGCCTACAAACGCTTCGGCTACAAGCTGGCTGGCATGGACCCCGAGAAGCCCGGCACGCCCATCGTGCTGAGGAGGGCCCAGCCACGCGCTCGCAGCAGCAACGACGCGCGCCGCCCGCCCGCGCCACAGCCCGCGCCCAGGACCCTCTCCCACTGGAGCGCGCTCCTGTCTCCGCCCGTGCCCCCGCGGCCCCCAAGCTCCGGGCCCCCGCCCGCGCCGCCGCTCTCCCCGGCGCTCTCGGGCCTGCCCCGGCCGGCCTCGCCCTACGGCTCCCTCCGCCGCCACCCGCCGCCCTGGGCCGCCCCAGCGCACGTGCCACCGGCGCCGCAGGCCAGCTGGTGGGCCTTCGTGGAGCCCCCTGCCGTGAGCCCGGAGGTGCCCCCCGACCTACTAGCCTTCCCAGGGCCCCGACCCTCGTTCAGGGGCTCCCGCCGGAGAGGGGCGGCTTTCGGCTTCCCCGGGGCCTCTCCACGGGCGTCGCGGAGGCGAGCTTGGTCACCGCTGGCCTCGCCCCAGCCCTCGCTGAGGAGCTCGCCGGGCCTCGGCTACTGCTCACCCTTGGCGCCCCCGTCGCCTCAGCTGTCCTTGCGCACGGGCCCCTTCCAGCCGCCCTTCCTGCCCCCGGCCCGCCGGCCCCGCTCGCTGCAGGAGTCCCCAGCCCCACGCCGAGCCGCTGGGCGCCTGGGCCCACCCGGCTCGCCGCTGCCGGGCTCACCCAGGCCGCCCTCGCCGCCCCTGGGGCTCTGCCACAGCCCGCGGCGCAGCTCCCTGAATCTGCCCTCGCGCCTCCCGCACACGTGGCGGCGCCTCAGCGAGCCACCCACTCGGGCTGTGAAGCCGCAAGTGCGCCTGCCCTTCCACCGACCGCCCAGGGCCGGGGCCTGGCGGGCGCCCCTGGAACACCGGGAGAGCCCGCGAGAACCCGAGGACTCAGAGACGCCCTGGACTGTGCCCCCACTGGCCCCCAGCTGGGA
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Task1_train_23850
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This sequence variant lies in MYO15A (myosin XVA) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 3
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GGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCCTAGGACCTAGAGGGTTCAAAGTTCTCCTCCAAGATGACTTGGTGGGCTTTGGCCATCCCACCCTAGGCCCCACTTCTGGCCCAGTGCAGGTGTGCTGGTGATTTAGGGCAGGTGGCATTCCATCTCTGTGGCTCAATGTCTTCCTCTGTGAAGCCGAAGTGACCCAAGGGCTCCCTTCATGGGGTTGAGCCAGCTGTGGCCCAGGGAGGGCCTAACCAGGATGAGCACTGATGTTGCCATGACGACTCCGAGGCCAGAATGTCTCCCCCAGCACAGGCCTCATAGGCAGGCTTCCCCATCCTGGTAAACAACACCCACACACTTTCTACTACTGCTCTAGGGTGAAACCCAAGGCGCTCTAGAGGAGATGAATTATGGATCCGCCCTCCCGGAATCCTGGCTCGGCCCTCCCCACGCCACCCAGGGCCAGTCGGGTCTGCTCACAGCCCGAGGAGGCCGCGTGTCCAGCCGCGGGCAAGAGACAGAGCAGGTCCCTGTGTCTCCAAGTCCCTGAGCCCGTGACACCGGCCCCAGGCCCTGTAGAGAGCAGGCAGCCACCATGGCGAAGGAGGAAGATGAGGAGAAGAAAGCCAAGAAAGGGAAGAAGGGGAAGAAGGCACCGGAGCCGGAGAAGCCCAAACGGAGCCTGAAGGGGACGTCGCGGCTGTTCATGGGCTTCCGCGACCGTACACCCAAGATCTCCAAGAAGGGCCAGTTCCGCAGCGCCTCGGCCTTCTTCTGGGGCCTCCACACCGGCCCCCAGAAGACCAAGCGCAAGAGGAAGGCCCGCACCGTGCTCAAGTCCACGTCAAAGCTCATGACGCAGATGCGCATGGGCAAGAAGAAGCGGGCGATGAAGGGCAAGAAGCCGTCCTTCATGGTGATCCGCTTCCCAGGCCGCCGTGGCTACGGCCGCCTGCGGCCGCGCGCCCGGTCACTCAGCAAAGCGTCCACGGCCATCAACTGGCTCACAAAAAAGTTCCTCCTCAAGAAGGCCGAGGAGTCGGGCAGCGAACAGGCCACAGTGGACGCCTGGCTGCAGCGCTCGAGCTCCCGCATGGGCTCCCGCAAACTCCCCTTCCCGTCGGGTGCCGAGATCCTGCGGCCTGGGGGCCGGCTCCGGAGGTTCCCCCGCAGCCGCAGCATCTACGCGTCAGGCGAGCCCCTGGGCTTCCTGCCCTTCGAGGACGAGGCCCCATTCCATCACTCGGGCTCCCGCAAGTCGCTGTACGGGCTTGAGGGCTTCCAGGACCTGGGCGAGTATTATGACTATCACCGCGACGGCGACGACTACTACGACCGGCAGTCACTCCACCGCTACGAGGAGCAGGAACCCTACCTGGCGGGCCTCGGCCCCTACAGCCCGGCCTGGCCACCCTACGGCGACCACTACTACGGGTACCCGCCCGAGGATCCCTACGACTACTACCACCCCGACTATTACGGTGGCCCCTTTGATCCGGGGTACACCTACGGCTACGGCTACGACGATTACGAACCCCCATATGCGCCCCCGTCGGGGTACTCGTCTCCTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATGGCTACTACCTGGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATGACCTCCCATACCACACTCCCTACGATGTACCCTACTTTGATCCCTACGGAGTCCACTACACCGTCCCCTATGCCGAAGGCGTCTATGGCGGTGGGGACGAGGCCATCTACCCCCCCGAGGTGCCCTATTTTTACCCGGAGGAGTCGGCTTCGGCCTTTGTGTACCCCTGGGTACCACCGCCCATCCCGTCGCCCCACAACCCGTATGCCCACGCCATGGATGACATCGCCGAGCTGGAGGAACCAGAGGACGCGGGCGTAGAGCGTCAGGGGACCTCCTTCCGCCTGCCCAGCGCCGCCTTCTTCGAGCAGCAAGGCATGGATAAGCCCGCCAGGTCCAAGCTGTCCCTCATCCGCAAGTTCCGCCTCTTCCCGCGACCCCAGGTGAAGCTGTTTGGGAAGGAGAAGCTGGAGGTGCCCCTGCCACCCTCTCTGGACATTCCTCTCCCCTTGGGGGATGCGGACGAAGAAGAGGACGAGGAGGAGCTGCCCCCGGTTTCCGCTGTGCCCTACGGCCACCCTTTCTGGGGCTTCCTCACGCCGCGCCAGCGCAACCTCCAGCGCGCGCTGTCGGCCTTCGGCGCCCACCGGGGCCTGGGCTTCGGCCCTGAGTTTGGCCGCCCCGTGCCTCGCCCTGCCACCTCGCTTGCGCGGTTCCTCAAGAAGACGCTGTCGGAGAAGAAGCCCATCGCGCGGCTCAGGGGCAGCCAGAAGGCCCGGGCGGGCGGCCCTGCTGTCAGGGAGGCGGCCTACAAACGCTTCGGCTACAAGCTGGCTGGCATGGACCCCGAGAAGCCCGGCACGCCCATCGTGCTGAGGAGGGCCCAGCCACGCGCTCGCAGCAGCAACGACGCGCGCCGCCCGCCCGCGCCACAGCCCGCGCCCAGGACCCTCTCCCACTGGAGCGCGCTCCTGTCTCCGCCCGTGCCCCCGCGGCCCCCAAGCTCCGGGCCCCCGCCCGCGCCGCCGCTCTCCCCGGCGCTCTCGGGCCTGCCCCGGCCGGCCTCGCCCTACGGCTCCCTCCGCCGCCACCCGCCGCCCTGGGCCGCCCCAGCGCACGTGCCACCGGCGCCGCAGGCCAGCTGGTGGGCCTTCGTGGAGCCCCCTGCCGTGAGCCCGGAGGTGCCCCCCGACCTACTAGCCTTCCCAGGGCCCCGACCCTCGTTCAGGGGCTCCCGCCGGAGAGGGGCGGCTTTCGGCTTCCCCGGGGCCTCTCCACGGGCGTCGCGGAGGCGAGCTTGGTCACCGCTGGCCTCGCCCCAGCCCTCGCTGAGGAGCTCGCCGGGCCTCGGCTACTGCTCACCCTTGGCGCCCCCGTCGCCTCAGCTGTCCTTGCGCACGGGCCCCTTCCAGCCGCCCTTCCTGCCCCCGGCCCGCCGGCCCCGCTCGCTGCAGGAGTCCCCAGCCCCACGCCGAGCCGCTGGGCGCCTGGGCCCACCCGGCTCGCCGCTGCCGGGCTCACCCAGGCCGCCCTCGCCGCCCCTGGGGCTCTGCCACAGCCCGCGGCGCAGCTCCCTGAATCTGCCCTCGCGCCTCCCGCACACGTGGCGGCGCCTCAGCGAGCCACCCACTCGGGCTGTGAAGCCGCAAGTGCGCCTGCCCTTCCACCGACCGCCCAGGGCCGGGGCCTGGCGGGCGCCCCTGGAACACCGGGAGAGCCCGCGAGAACCCGAGGACTCAGAGACGCCCTGGACTGTGCCCCCACTGGCCCCCAGCTGGGACGTGGACATGCCTCCCACCCAACGCCCACCCTCCCCCTGGCCAGGAGGTGCAGGCAGCCGCCGAGGCTTTTCCAGGCCACCCCCTGTGCCGGAAAACCCCTTTCTCCAGCTCCTGGGCCCTGTGCCATCCCCCACCCTCCAGCCTGAGGATCCAGCTGCTGATATGACCAGGGTCTTCCTGGGCAGACACCATGAGCCGGGGCCTGGACAGCTCACCAAATCAGCTGGCCCAACCCCTGAGAAGCCTGAAGAAGAGGCCACCCTGGGGGACCCCCAGCTGCCAGCAGAGACCAAGCCTCCAACCCCAGCACCTCCCAAGGATGTCACTCCCCCCAAGGATATCACTCCCCCCAAGGATGTCCTCCCAGAGCAAAAGACATTAAGGCCCAGCCTCTCATACCCACTGGCTGCGTGTGACCAGACCAGGGCCACATGGCCACCATGGCACCGCTGGGGAACACTGCCCCAAGCCGCAGCCCCC
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GGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCCTAGGACCTAGAGGGTTCAAAGTTCTCCTCCAAGATGACTTGGTGGGCTTTGGCCATCCCACCCTAGGCCCCACTTCTGGCCCAGTGCAGGTGTGCTGGTGATTTAGGGCAGGTGGCATTCCATCTCTGTGGCTCAATGTCTTCCTCTGTGAAGCCGAAGTGACCCAAGGGCTCCCTTCATGGGGTTGAGCCAGCTGTGGCCCAGGGAGGGCCTAACCAGGATGAGCACTGATGTTGCCATGACGACTCCGAGGCCAGAATGTCTCCCCCAGCACAGGCCTCATAGGCAGGCTTCCCCATCCTGGTAAACAACACCCACACACTTTCTACTACTGCTCTAGGGTGAAACCCAAGGCGCTCTAGAGGAGATGAATTATGGATCCGCCCTCCCGGAATCCTGGCTCGGCCCTCCCCACGCCACCCAGGGCCAGTCGGGTCTGCTCACAGCCCGAGGAGGCCGCGTGTCCAGCCGCGGGCAAGAGACAGAGCAGGTCCCTGTGTCTCCAAGTCCCTGAGCCCGTGACACCGGCCCCAGGCCCTGTAGAGAGCAGGCAGCCACCATGGCGAAGGAGGAAGATGAGGAGAAGAAAGCCAAGAAAGGGAAGAAGGGGAAGAAGGCACCGGAGCCGGAGAAGCCCAAACGGAGCCTGAAGGGGACGTCGCGGCTGTTCATGGGCTTCCGCGACCGTACACCCAAGATCTCCAAGAAGGGCCAGTTCCGCAGCGCCTCGGCCTTCTTCTGGGGCCTCCACACCGGCCCCCAGAAGACCAAGCGCAAGAGGAAGGCCCGCACCGTGCTCAAGTCCACGTCAAAGCTCATGACGCAGATGCGCATGGGCAAGAAGAAGCGGGCGATGAAGGGCAAGAAGCCGTCCTTCATGGTGATCCGCTTCCCAGGCCGCCGTGGCTACGGCCGCCTGCGGCCGCGCGCCCGGTCACTCAGCAAAGCGTCCACGGCCATCAACTGGCTCACAAAAAAGTTCCTCCTCAAGAAGGCCGAGGAGTCGGGCAGCGAACAGGCCACAGTGGACGCCTGGCTGCAGCGCTCGAGCTCCCGCATGGGCTCCCGCAAACTCCCCTTCCCGTCGGGTGCCGAGATCCTGCGGCCTGGGGGCCGGCTCCGGAGGTTCCCCCGCAGCCGCAGCATCTACGCGTCAGGCGAGCCCCTGGGCTTCCTGCCCTTCGAGGACGAGGCCCCATTCCATCACTCGGGCTCCCGCAAGTCGCTGTACGGGCTTGAGGGCTTCCAGGACCTGGGCGAGTATTATGACTATCACCGCGACGGCGACGACTACTACGACCGGCAGTCACTCCACCGCTACGAGGAGCAGGAACCCTACCTGGCGGGCCTCGGCCCCTACAGCCCGGCCTGGCCACCCTACGGCGACCACTACTACGGGTACCCGCCCGAGGATCCCTACGACTACTACCACCCCGACTATTACGGTGGCCCCTTTGATCCGGGGTACACCTACGGCTACGGCTACGACGATTACGAACCCCCATATGCGCCCCCGTCGGGGTACTCGTCTCCTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATGGCTACTACCTGGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATGACCTCCCATACCACACTCCCTACGATGTACCCTACTTTGATCCCTACGGAGTCCACTACACCGTCCCCTATGCCGAAGGCGTCTATGGCGGTGGGGACGAGGCCATCTACCCCCCCGAGGTGCCCTATTTTTACCCGGAGGAGTCGGCTTCGGTCTTTGTGTACCCCTGGGTACCACCGCCCATCCCGTCGCCCCACAACCCGTATGCCCACGCCATGGATGACATCGCCGAGCTGGAGGAACCAGAGGACGCGGGCGTAGAGCGTCAGGGGACCTCCTTCCGCCTGCCCAGCGCCGCCTTCTTCGAGCAGCAAGGCATGGATAAGCCCGCCAGGTCCAAGCTGTCCCTCATCCGCAAGTTCCGCCTCTTCCCGCGACCCCAGGTGAAGCTGTTTGGGAAGGAGAAGCTGGAGGTGCCCCTGCCACCCTCTCTGGACATTCCTCTCCCCTTGGGGGATGCGGACGAAGAAGAGGACGAGGAGGAGCTGCCCCCGGTTTCCGCTGTGCCCTACGGCCACCCTTTCTGGGGCTTCCTCACGCCGCGCCAGCGCAACCTCCAGCGCGCGCTGTCGGCCTTCGGCGCCCACCGGGGCCTGGGCTTCGGCCCTGAGTTTGGCCGCCCCGTGCCTCGCCCTGCCACCTCGCTTGCGCGGTTCCTCAAGAAGACGCTGTCGGAGAAGAAGCCCATCGCGCGGCTCAGGGGCAGCCAGAAGGCCCGGGCGGGCGGCCCTGCTGTCAGGGAGGCGGCCTACAAACGCTTCGGCTACAAGCTGGCTGGCATGGACCCCGAGAAGCCCGGCACGCCCATCGTGCTGAGGAGGGCCCAGCCACGCGCTCGCAGCAGCAACGACGCGCGCCGCCCGCCCGCGCCACAGCCCGCGCCCAGGACCCTCTCCCACTGGAGCGCGCTCCTGTCTCCGCCCGTGCCCCCGCGGCCCCCAAGCTCCGGGCCCCCGCCCGCGCCGCCGCTCTCCCCGGCGCTCTCGGGCCTGCCCCGGCCGGCCTCGCCCTACGGCTCCCTCCGCCGCCACCCGCCGCCCTGGGCCGCCCCAGCGCACGTGCCACCGGCGCCGCAGGCCAGCTGGTGGGCCTTCGTGGAGCCCCCTGCCGTGAGCCCGGAGGTGCCCCCCGACCTACTAGCCTTCCCAGGGCCCCGACCCTCGTTCAGGGGCTCCCGCCGGAGAGGGGCGGCTTTCGGCTTCCCCGGGGCCTCTCCACGGGCGTCGCGGAGGCGAGCTTGGTCACCGCTGGCCTCGCCCCAGCCCTCGCTGAGGAGCTCGCCGGGCCTCGGCTACTGCTCACCCTTGGCGCCCCCGTCGCCTCAGCTGTCCTTGCGCACGGGCCCCTTCCAGCCGCCCTTCCTGCCCCCGGCCCGCCGGCCCCGCTCGCTGCAGGAGTCCCCAGCCCCACGCCGAGCCGCTGGGCGCCTGGGCCCACCCGGCTCGCCGCTGCCGGGCTCACCCAGGCCGCCCTCGCCGCCCCTGGGGCTCTGCCACAGCCCGCGGCGCAGCTCCCTGAATCTGCCCTCGCGCCTCCCGCACACGTGGCGGCGCCTCAGCGAGCCACCCACTCGGGCTGTGAAGCCGCAAGTGCGCCTGCCCTTCCACCGACCGCCCAGGGCCGGGGCCTGGCGGGCGCCCCTGGAACACCGGGAGAGCCCGCGAGAACCCGAGGACTCAGAGACGCCCTGGACTGTGCCCCCACTGGCCCCCAGCTGGGACGTGGACATGCCTCCCACCCAACGCCCACCCTCCCCCTGGCCAGGAGGTGCAGGCAGCCGCCGAGGCTTTTCCAGGCCACCCCCTGTGCCGGAAAACCCCTTTCTCCAGCTCCTGGGCCCTGTGCCATCCCCCACCCTCCAGCCTGAGGATCCAGCTGCTGATATGACCAGGGTCTTCCTGGGCAGACACCATGAGCCGGGGCCTGGACAGCTCACCAAATCAGCTGGCCCAACCCCTGAGAAGCCTGAAGAAGAGGCCACCCTGGGGGACCCCCAGCTGCCAGCAGAGACCAAGCCTCCAACCCCAGCACCTCCCAAGGATGTCACTCCCCCCAAGGATATCACTCCCCCCAAGGATGTCCTCCCAGAGCAAAAGACATTAAGGCCCAGCCTCTCATACCCACTGGCTGCGTGTGACCAGACCAGGGCCACATGGCCACCATGGCACCGCTGGGGAACACTGCCCCAAGCCGCAGCCCCC
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Task1_train_23851
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A genetic alteration is present in MYO15A (myosin XVA) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 3
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GGTCTCCTAGCTGGTTGGTGTCAGAAACAGGACTTGAATTCAGGCCTATCTGATCAAGGCACTGCACTGAGTTGGGGAGGGAGACCCATGCCAGAACCAGCCCTGGGGGCACTGACGGCTTCTCTCTGTGTCCTTCTAGAGACCTCCAGGAAACCACTGTGCTGTCCAACCTCAAGATTAGATTTGAACGGAACCTCATCTACGTAAGGCCTGGGGCTGGCCCTGCCCTGGGCCTAGGTCAGGAAGGCAGCTGCCTCCTGGGGCCGGGTGGGACGCACAGATTTCTCTTGTGGGCCCTAGCCCCTGTGGCCTCTGCCTAGAATGCCAGAGCCTAGAACTAAAATCTGAAGTCTTAAAACACAGTCTTAGAATGGTGGATGCCAGAGGCCGGGCACAGTGGCTCACCCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCACGAGGTCAAGAGATCGAGACCATCCTGGTTAACACGGTGAAACCCCCTCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGTGTAGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGAGGCAGAGCTTGCAGTGAGCGGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATGGTGGATGCCAGAGGCAGAAAGCTGGAGACAGAGAATCCAGAAATATGTGACACCCCCACCATCTGGGACCTGACAGATAGAACTTCCAGAGTCCTAGAATCCATAGACCTGGACCCCAGAGTGGGGATGGCCAGAGGGGTCAGAGGGGAGCCTCTGACCTGAGAATGACAGAACAGAGGGCCAGGGGCTCAGTGCCAGTGTGGAAGACAAGGACACCCAGAAGGGCTCTGGCCACATCAGGATCCCCTGAGTTCCCCAACTCCTCACTCTAGGCAGTGGAGGTTTGCCCTCAACAGGAGCCAGAAGTTCCTGGAGCCTGGGCCCAACCTTGAACAAATGAAGTAGGCAGGAGCCCACCCAGGATCGTGGCTGTGGGGTTTGCTCACTCCAGACTCCTCTCAGCTCAGCCTGGTGCAGTGCCTGAGATTCCACTGTTAGAGCACGTAGCCCAGCTAGCTGGTAGAGGGCTCTAGATGGGAATCCCGAGTCCAGGCAGCCAGATATCTGTCCGGATGGAAACAGGGAGCCAGGCTCCCAGCATAGGGGAGGGAGGGACATAGAGGTCTGCAAGGAGCCACGACGCTGAGGCCACCGTCTGCCCAGCAGACATACATTGGGAGCATCCTGGTGTCGGTGAACCCATACCAAATGTTTGGAATCTATGGGCCGGAGCAGGTGCAGCAGTACAACGGACGGGCCCTGGGAGAGAATCCCCCGTGAGTGTCTCGGGGGCGCTGCCCTGGGGTCTCTTGGGCCCCTCTTTCCCCTGCTCTGGGAGCCTGGATCCCGGCTGCACCTGAGCCATGAGTCAGAGGTAATGGGGAAAGGCAGCCCACCTACTCAATCTGACAGTCTCTCCCCAGGCAGGGCCGAAGCTACAGGTTGGAGGCCACTGTCGTTCAGACCAGGATGGGGGTGGGAGCATTCCCCCAACAGGGTGAGGGGTGGGCAGGATTGGCTGTTTGGCTGGATACGGATGCTCCCTGCCCAATCCCTGGGAGGTGTGGGAGCTTAGAGGCAGGGGCCAGCTCTAATGACCTGTCTCCCCAGGCACCTCTTTGCTGTTGCAAATCTCGCCTTCGCCAAAATGCTCGATGCCAAACAGAACCAGTGCATAATCATTAGGTGAGTGGGCTGCCTTTATGTGGGGGATAAATGGGGGACCTTAGGTAGCAGGCCTGCATCTGGCCAGAACTGCTGTGGGACCTTGGAAGATTGCCTGGTACCTCTGGGTTGGCCCACCGTACATATCCTCTTGCTTCATGATGGGAGTCAGGGTGCCCCAGAAGAGGCAGCGAAAGGTTGGAGCTCACTCTGCCCCTTTGCTCGGTCAGTGGAGAGAGCGGCTCTGGCAAAACTGAGGCCACCAAGCTGATTCTGCGCTACCTGGCCGCCATGAACCAGAAACGGGAGGTCATGCAGCAGGTGAGTCTACCTGTCTCCCCAGGACCCTAGGCTGAACACCCTTTGATAAGCACACCTCATGTACTCCCGAAGAGGCAAGGCTCCTTGGCCCACCAGGAAGATGAGGAGGCTGAGTTCCAGAAGGGGGCCTTGCCCAGGGCTGCTTTTTCTGCCACCCTTCCCAGGGGTGTGCCTGAGGGGTGAGAGTTCCTGCCTGTCTGTGTTTCTGTGGCAGCTCCTGCTTCCAGCCCTCCGGGTCCAGTTCAGAGTGGAGACCACATAGGGAAGGGGAGTCCACATAGGGAAGGGGAGTCATCCCATCTCTCCCACCTGGCCTCACCTTCCTGGTCATGGCCCTGGGGCCACCATATTCTCACACCCAGAAGCTATGCAGCCCCCAGCGGTCAAGAGGCAGGGCAGGCCTGAGTGTGGGTTAGGGGTGGGGTGGGGGAGGCAGTAGATGCCAGGCCAGAGTCTGAAGGATTGGAGCTTTGCTGACAAAGACAGTGCTAAGCCCTCTGAGCCTGAGAATGGTAGAACTGCATCCGTTCCCTCAGTAAAGATCTACTGAAGACCTACTGTGTGCCAGTCCCAGGCTAGGCACTGGGGAGGGGTAGCGGCAACTCAGGCAAATGTTCACACCCTTATGGGAACTTCATTCTAGTGGTGGAGGTGGGAAGAAAAAAAAAGATATATATATATATATATATATATATACACTTATATAAGTAAATTATGTGTATGTGAAAGGGTAGGTGGTGAGTTGTGGAGGAAAAAAGTGAAGAGAAGGGTGGCGAGTGTTGGGGGTTGCAATCGTAAGTGTGGTGGTCAGGGTAGGCTGTACTGAGAAGACAAGAGAGTGGGCTCTAGGAAAGTCTAGGGGAACAGTGAAGAGGCAGAGGGAGGAGCGCCTGCACTTTGAGGTGCAAGCAGATTGGGTCCAGGTGCAGGTCAAAGCCAGCCAGCAACCTACAGAGAAGACAGACTGGGGTGTGAGAGGGAGAACTGTCGGAGGGTGACCCCAGACATTCGGTCTGAGCCACAGGCAGCATGGAGGCAGGCTGGGCAGTGGAGGAGGAGCAGGTTTGTTGAGAAGAGGTGTCTGCTAGGCATCTACACAGAGATGGCAGGGAGGTGATGGATGCACCACCAGCCTGGAGCTCAGGAGAAGGTGGGACTGGCCTGCCAGCTCAGACTCCAGAACCACAGACCCAGACTTCCCCAACCCTGGGGCCCACAAAGGTTTGCACATGGCACAATGTCCTAGCCAGGGGCGAGCCCAGCAAGGTGATCCTGGGGGCGTAGGTGGAGGCTGCTCAGGCTTTGCAGTCAGGTTCCAGCCTGGCCTGGCCCCCTCTGATGCCTGCCTTGGCCTGCCAGGGTCTCCCATCCCAGCCCAGGCCTCCTGATGACCAAACAGATCATCCCTTGCTCCAGAGTTTTCAAAACCTTTCAGGTCAGACTTGTGGAATGACTAGGTAGGTAGGCAGGGAAAGAAGTAAGTGTACCTCGTGCACCTCCTGTGGCCAGGCACAGTGCTGGGTTCCTTCAGTTATCGTCACACCGGAGCTTTACGGCAACCCTGGGAGGTAGGTACACTTGTATCCATTTATAGATGGGAACACTGAGGCCTAAGAAGGGAGGAGTGAGGTGGTGCAGGAGCTGAGATTTGCAGTCCATGGCAGAGAGCTGTCAGGGAGGACGGATGGAGCTGTGGATGTGGCTGAGTCTGGGAGTTTGTGTGTGCCAGGCACACAGAATGTGTGAGGATGTGCCTGCCAGCTGTGATGACCATGGGGCTCCTTTCCTAGACATGGCTCTTCCCTCCTCAGATAATCAAACAGTCCAGTTCAGTTTTAGGCATGGCTGGATCCAGAATCTTAAACAATGTTTCTTGTCTTGGCTCCACCCTCCCCCATGTATAGGCATCATCCTCAATCTGTCTCCTATTGGTCAGCAAGCTGGCACCATAATGATCAA
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GGTCTCCTAGCTGGTTGGTGTCAGAAACAGGACTTGAATTCAGGCCTATCTGATCAAGGCACTGCACTGAGTTGGGGAGGGAGACCCATGCCAGAACCAGCCCTGGGGGCACTGACGGCTTCTCTCTGTGTCCTTCTAGAGACCTCCAGGAAACCACTGTGCTGTCCAACCTCAAGATTAGATTTGAACGGAACCTCATCTACGTAAGGCCTGGGGCTGGCCCTGCCCTGGGCCTAGGTCAGGAAGGCAGCTGCCTCCTGGGGCCGGGTGGGACGCACAGATTTCTCTTGTGGGCCCTAGCCCCTGTGGCCTCTGCCTAGAATGCCAGAGCCTAGAACTAAAATCTGAAGTCTTAAAACACAGTCTTAGAATGGTGGATGCCAGAGGCCGGGCACAGTGGCTCACCCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCACGAGGTCAAGAGATCGAGACCATCCTGGTTAACACGGTGAAACCCCCTCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGTGTAGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGAGGCAGAGCTTGCAGTGAGCGGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATGGTGGATGCCAGAGGCAGAAAGCTGGAGACAGAGAATCCAGAAATATGTGACACCCCCACCATCTGGGACCTGACAGATAGAACTTCCAGAGTCCTAGAATCCATAGACCTGGACCCCAGAGTGGGGATGGCCAGAGGGGTCAGAGGGGAGCCTCTGACCTGAGAATGACAGAACAGAGGGCCAGGGGCTCAGTGCCAGTGTGGAAGACAAGGACACCCAGAAGGGCTCTGGCCACATCAGGATCCCCTGAGTTCCCCAACTCCTCACTCTAGGCAGTGGAGGTTTGCCCTCAACAGGAGCCAGAAGTTCCTGGAGCCTGGGCCCAACCTTGAACAAATGAAGTAGGCAGGAGCCCACCCAGGATCGTGGCTGTGGGGTTTGCTCACTCCAGACTCCTCTCAGCTCAGCCTGGTGCAGTGCCTGAGATTCCACTGTTAGAGCACGTAGCCCAGCTAGCTGGTAGAGGGCTCTAGATGGGAATCCCGAGTCCAGGCAGCCAGATATCTGTCCGGATGGAAACAGGGAGCCAGGCTCCCAGCATAGGGGAGGGAGGGACATAGAGGTCTGCAAGGAGCCACGACGCTGAGGCCACCGTCTGCCCAGCAGACATACATTGGGAGCATCCTGGTGTCGGTGAACCCATACCAAATGTTTGGAATCTATGGGCCGGAGCAGGTGCAGCAGTACAACGGACGGGCCCTGGGAGAGAATCCCCCGTGAGTGTCTCGGGGGCGCTGCCCTGGGGTCTCTTGGGCCCCTCTTTCCCCTGCTCTGGGAGCCTGGATCCCGGCTGCACCTGAGCCATGAGTCAGAGGTAATGGGGAAAGGCAGCCCACCTACTCAATCTGACAGTCTCTCCCCAGGCAGGGCCGAAGCTACAGGTTGGAGGCCACTGTCGTTCAGACCAGGATGGGGGTGGGAGCATTCCCCCAACAGGGTGAGGGGTGGGCAGGATTGGCTGTTTGGCTGGATACGGATGCTCCCTGCCCAATCCCTGGGAGGTGTGGGAGCTTAGAGGCAGGGGCCAGCTCTAATGACCTGTCTCCCCAGGCACCTCTTTGCTGTTGCAAATCTCGCCTTCGCCAAAATGCTCGATGCCAAACAGAACCAGTGCATAATCATTAGGTGAGTGGGCTGCCTTTATGTGGGGGATAAATGGGGGACCTTAGGTAGCAGGCCTGCATCTGGCCAGAACTGCTGTGGGACCTTGGAAGATTGCCTGGTACCTCTGGGTTGGCCCACCGTACATATCCTCTTGCTTCATGATGGGAGTCAGGGTGCCCCAGAAGAGGCAGCGAAAGGTTGGAGCTCACTCTGCCCCTTTGCTCGGTCAGTGAAGAGAGCGGCTCTGGCAAAACTGAGGCCACCAAGCTGATTCTGCGCTACCTGGCCGCCATGAACCAGAAACGGGAGGTCATGCAGCAGGTGAGTCTACCTGTCTCCCCAGGACCCTAGGCTGAACACCCTTTGATAAGCACACCTCATGTACTCCCGAAGAGGCAAGGCTCCTTGGCCCACCAGGAAGATGAGGAGGCTGAGTTCCAGAAGGGGGCCTTGCCCAGGGCTGCTTTTTCTGCCACCCTTCCCAGGGGTGTGCCTGAGGGGTGAGAGTTCCTGCCTGTCTGTGTTTCTGTGGCAGCTCCTGCTTCCAGCCCTCCGGGTCCAGTTCAGAGTGGAGACCACATAGGGAAGGGGAGTCCACATAGGGAAGGGGAGTCATCCCATCTCTCCCACCTGGCCTCACCTTCCTGGTCATGGCCCTGGGGCCACCATATTCTCACACCCAGAAGCTATGCAGCCCCCAGCGGTCAAGAGGCAGGGCAGGCCTGAGTGTGGGTTAGGGGTGGGGTGGGGGAGGCAGTAGATGCCAGGCCAGAGTCTGAAGGATTGGAGCTTTGCTGACAAAGACAGTGCTAAGCCCTCTGAGCCTGAGAATGGTAGAACTGCATCCGTTCCCTCAGTAAAGATCTACTGAAGACCTACTGTGTGCCAGTCCCAGGCTAGGCACTGGGGAGGGGTAGCGGCAACTCAGGCAAATGTTCACACCCTTATGGGAACTTCATTCTAGTGGTGGAGGTGGGAAGAAAAAAAAAGATATATATATATATATATATATATATACACTTATATAAGTAAATTATGTGTATGTGAAAGGGTAGGTGGTGAGTTGTGGAGGAAAAAAGTGAAGAGAAGGGTGGCGAGTGTTGGGGGTTGCAATCGTAAGTGTGGTGGTCAGGGTAGGCTGTACTGAGAAGACAAGAGAGTGGGCTCTAGGAAAGTCTAGGGGAACAGTGAAGAGGCAGAGGGAGGAGCGCCTGCACTTTGAGGTGCAAGCAGATTGGGTCCAGGTGCAGGTCAAAGCCAGCCAGCAACCTACAGAGAAGACAGACTGGGGTGTGAGAGGGAGAACTGTCGGAGGGTGACCCCAGACATTCGGTCTGAGCCACAGGCAGCATGGAGGCAGGCTGGGCAGTGGAGGAGGAGCAGGTTTGTTGAGAAGAGGTGTCTGCTAGGCATCTACACAGAGATGGCAGGGAGGTGATGGATGCACCACCAGCCTGGAGCTCAGGAGAAGGTGGGACTGGCCTGCCAGCTCAGACTCCAGAACCACAGACCCAGACTTCCCCAACCCTGGGGCCCACAAAGGTTTGCACATGGCACAATGTCCTAGCCAGGGGCGAGCCCAGCAAGGTGATCCTGGGGGCGTAGGTGGAGGCTGCTCAGGCTTTGCAGTCAGGTTCCAGCCTGGCCTGGCCCCCTCTGATGCCTGCCTTGGCCTGCCAGGGTCTCCCATCCCAGCCCAGGCCTCCTGATGACCAAACAGATCATCCCTTGCTCCAGAGTTTTCAAAACCTTTCAGGTCAGACTTGTGGAATGACTAGGTAGGTAGGCAGGGAAAGAAGTAAGTGTACCTCGTGCACCTCCTGTGGCCAGGCACAGTGCTGGGTTCCTTCAGTTATCGTCACACCGGAGCTTTACGGCAACCCTGGGAGGTAGGTACACTTGTATCCATTTATAGATGGGAACACTGAGGCCTAAGAAGGGAGGAGTGAGGTGGTGCAGGAGCTGAGATTTGCAGTCCATGGCAGAGAGCTGTCAGGGAGGACGGATGGAGCTGTGGATGTGGCTGAGTCTGGGAGTTTGTGTGTGCCAGGCACACAGAATGTGTGAGGATGTGCCTGCCAGCTGTGATGACCATGGGGCTCCTTTCCTAGACATGGCTCTTCCCTCCTCAGATAATCAAACAGTCCAGTTCAGTTTTAGGCATGGCTGGATCCAGAATCTTAAACAATGTTTCTTGTCTTGGCTCCACCCTCCCCCATGTATAGGCATCATCCTCAATCTGTCTCCTATTGGTCAGCAAGCTGGCACCATAATGATCAA
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Task1_train_23852
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Chromosome 17 houses a mutation in gene MYO15A (myosin XVA). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Nonsyndromic genetic hearing loss
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GCAGTATTTCCTGGACTAAATGGGACAGATGGAGGGAACTGGCCCCATCCCCAAAATTACAGGTATTGTTTCTGTGGTGACTGGACCTCCTTTGCTTCTTCCCTAAAAGATTATCCTGAGGAAGTGCCTCAGCTGAAGAAAGTGCCACGTACACACTAGGCCCATGCTCATCACTCGAGTGGACTCTGGAGTCCCTGGGCATGTCATTTCACCTCTCTAAGCTTCAGTTTCCTAATCTGCAAAACAGGGGTGATATTAGTACCTACCTCATGGGATTGTTAACAACGGCATTATCAGGGCAATGTGTCTGGCACACAGTAGGTGCTTAAATAGGTGGGAGCTTGTGATCAGCCATGGTCACCCCTGGGCAGCTCTGCCCGTGAGATGGTATTCCTTTTGTTTTTTGTTTTTGTTTTTGTTTTTTTTTAGACAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGTGCCATCTTGGCTCACTGCAATGTCTGCCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACGACCACGCCCGGCTAATTTTTTGTATTTTTAGTACAGACAGTGTTTCACCATGTTGGTCAGGATAGTCTGGATCTCCGGGCCTCGTGATCTGCCCACCTCGGCCTCCCAAACTCCTGAAATTACAGGCGTGAGCCACCATGCCCAGCCGATGCTATTCCTTTTTCCATCCCTTTAGCAGATATTTTTGAGAGCCTATTAAGCACCAGGTCTGTGTAGACGCTGGGGACTCAGAGATGTGCAAACAGTAGATCCGTGCCTGTAGGATTTGACATTCTAGTGGGGAGACAGACAATAATACCCAAGAAAATAGAGAGTTTGCCAATGGGGCTGAGGGCTACTGGAGAGAGAATTCTGGTGGCCTTCCTGTGAGAGGTAAGGGGTTGGGGGGTGGGGCATGCAGGTGCGTGGGAGCAGTGACTTCCAAGCAGAGGGAACAGGAGATGCCAATGGTCAGAGGCAGGAGTGGGCCTGGGTGTCAGGGAACAGTGAGGAAGGCCAGGGAGGATCCTTGGCTGGTGGTAGCCATGGGGGTGGGGAGAAGAGGACATCCCCAGAGCTGTTTGGAAGGCAAACTCAGCATATTTTCATACCTTGGAGACCCCATGGCAGTCCCCAAGCCTGGACCCCTGGGGTCTCTGAGCCTCACAGGTTTTTACTAGTCCCTCCCTGGTCTGAGGCTCCTAGTCTCCTGGAGAGAGTGGTGGTCGGTCCTGCTAGTGACTCCATTCTGTTCTTGTCTGTCTCTTTGTCCTCCCTCCTGGACGCTCTTGAAGATAAAGGTACTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCAGGAAAATGCGTGTGGATGTGCCTGCTCCTGTGTGGGTGGAGGGACAGGCAGGAAAGGACATCCAAAGGCCTGTCCTAGGCAGGGCTGGGGCTTGTGGTCAGGGGCTGCTGTGGGGGGCCATGGAGGCTGGAATGGGGAAGCATGGGGCTTGCTGTGTGGGAGTTGGGCAGCATGGGGTGGGAAACACTGGGGGGCACTGGAGAGACCTCAGGATTCTCTAGGGAGCCCACCTCTGGTCATCTCTCATAAAGGGAGGTCCTTGGGAAGGCTCATGTCTGGGTGTCCCCAGCTATGCCCCCCACCCAGGCCCCCAGAACAGTGCCTAGCCCCTCAATTCCCACATCTCCTTCTGGAGTCCAGATCCTGGAGGCAACACCCCTCTTGGAGTCCTTCGGTAATGCCAAAACCGTCAGGAACGACAACTCCAGCCGCTTTGGGAAGTTTGTGGAAATCTTTCTGGAAGGGTGAGTTGGGACAGTGGAGGGCCTCCCAAAAGCCTTGCAGTGTCTTCCATGTCCTGCCACAGCCCCTCGGAGCCAACACCAGCCCTCCTACCCTCACTGAGAGCTGACTGTGCTCCCCACCCCAGGGGCGTGATCTCTGGTGCCATAACCTCCCAGTACCTGCTTGAGAAATCCAGGATCGTGTTTCAGGTGGGCCACCCCCTCCCAGGCCTCTGTGTTGGGCAGGGTCGGGGTGGGAGGTACAGATACTCAGAGCCTGGCCCCTGGTAGGGCTAGGTAGACGTCAAATTAATGAACGAATACATGCGTACATGTGTACATGTGAGCCCAGGACCTCCCCTCCCCGACCCTCCTCCAGCCACGGTGGCTCCTCCCTGCCCCGCAGCACACAGGCACGCTCCTGCCAGGGCCTTTGCACCTTCTGTTCCTTCCCTCAGGAGCACTTATCCTTCAGGCACCTGCTTGGCCAAACCCCTCACCTCCTCCAAGTCTCCCCTACAATTTCACCCACTCAGGAAGCTCCCCATTTAAAAACGCAGCCCCTCTCCATCCCATCAGAGCCCCTACCCCGTCCACTGCTTTATTTCTCTCCAGTGTACTTTTCCCTGTCTCATATATTTTATGTTTTAAGCAGTTATTTGCTGAGTGTCTGTCTCCCTAGCTAGCAGGTGGGCTCCATCAGGTCAGGGGCTTCTCTCTACGTTGTTCCCCACTATGTCCCAAGGGCCTAGGACAGGGCTTGGTGCACAGGAAGTGCTCAGCCATCAAGAAGCTCTGTGTGTGCACATGTGGGCTATGGACACACATGTATGCAGGTGTGTGTGGCCGGTACACATAAGAGAAGACGGGTCCCTTTTCTCTTATTTCTCCTAACCAAATAAAATCCCACCAGAACCCTCTCAAACTTCAATCATACCAGGGCACCTCTGCTTCTGCCCTCACCCGCAGCTGGCACCAGGCTGGGAGCCTCACCCATCACAGAGGCGCGTGTTCTCATCTGCAGCCCACTGTGTGCATGTGCACTTGTGGGCAGGCTTGGGCTTGTATGTGTGCCTGGGGGTCACCTAGGTAGGTGGCTCCCTTCTCTGTGCCCACCTACCCACTCTACAGGCCAAAAACGAGAGGAATTACCACATCTTCTACGAGTTGCTGGCCGGGTTGCCTGCCCAGCTCAGGCAGGCCTTTAGCCTGCAAGAGGCTGAGACCTACTACTATCTGAACCAGGTGAGTGCCAGCAGGCATCTGAAGGCCCCTGGCCCTGGTCCTCCCACCCCGACGCCCCTGGCTGGGCCTTGGGAGCCGAGTTGTGAGTGATGGAGTGTGAAGGTGAAGGAGATTTGGGGAGGGTGAGTTTGGATTTAAGACATCTCATGGCAGTGAGGGGGACCAGGAGTCTTCTGGGTCCAAAGCGGAAGCAGGAAAGGCCTACCTGACTTCATTTCTCTGGAACCTGGAACAGAACCAACCAGTCTAGAGTTTCTACACTTCCCCTCTCTGTGCCTCAGTTTCCTCACCTGTAAAATGGGGACAACATAGTACCACTTTGCAGGGATGTAGTGAGGCTTAGATGAGGAAACGCATGTAAAGAGCTTAGCACAGGGCCTGGCATGCAGTACATGCTCAGTAAACACTTGCTACTCTTTTCATTACTATCACTGGGCAGCTGCAAAGGTCAACAGGTGACAACCCCTGCCACACATTGCACTTAGAATCTATGAACTCCGTCCTCAGCCGTGCTCAGAGCCTCCGTGCCCATGAGAGTGAAATGACAGCTTGAGTGACCAACTCAGGCCACCACACTACTGGTCAGGGCAGAGCAGGACCTGGAGGGCTCCCCAGCCCCACCCAAGCTCCCTGACCCTCAGCCTCTGCCCTCATGCAGGGTGGGAACTGTGAGATAGCAGGAAAGAGCGATGCAGATGACTTTCGCCGGCTCCTGGCTGCCATGGAGGTGTTGGGCTTCAGCAGTGAGGACCAGGACAGCATCTTCCGCATCCTGGCCTCCATCCTGCACCTGGGCAACGTCTACTTTGAGAAGTATGAGGTGAGGGGACGCCACAGCCTGCCATGGGGCCCGCACCCTCTGGACTTGGCCGTCTTTTCCAAGGCCTTCTCTGTTTCCCTTTCAGATTACACTATGCACATATCACTTGTTCCTGTTTTTTTCTTTTTTCCTTTGGGGTTGTTCATCTTTTTCCTCCTTATATATATTAAGGAAATCAGCCCTT
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GCAGTATTTCCTGGACTAAATGGGACAGATGGAGGGAACTGGCCCCATCCCCAAAATTACAGGTATTGTTTCTGTGGTGACTGGACCTCCTTTGCTTCTTCCCTAAAAGATTATCCTGAGGAAGTGCCTCAGCTGAAGAAAGTGCCACGTACACACTAGGCCCATGCTCATCACTCGAGTGGACTCTGGAGTCCCTGGGCATGTCATTTCACCTCTCTAAGCTTCAGTTTCCTAATCTGCAAAACAGGGGTGATATTAGTACCTACCTCATGGGATTGTTAACAACGGCATTATCAGGGCAATGTGTCTGGCACACAGTAGGTGCTTAAATAGGTGGGAGCTTGTGATCAGCCATGGTCACCCCTGGGCAGCTCTGCCCGTGAGATGGTATTCCTTTTGTTTTTTGTTTTTGTTTTTGTTTTTTTTTAGACAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGTGCCATCTTGGCTCACTGCAATGTCTGCCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACGACCACGCCCGGCTAATTTTTTGTATTTTTAGTACAGACAGTGTTTCACCATGTTGGTCAGGATAGTCTGGATCTCCGGGCCTCGTGATCTGCCCACCTCGGCCTCCCAAACTCCTGAAATTACAGGCGTGAGCCACCATGCCCAGCCGATGCTATTCCTTTTTCCATCCCTTTAGCAGATATTTTTGAGAGCCTATTAAGCACCAGGTCTGTGTAGACGCTGGGGACTCAGAGATGTGCAAACAGTAGATCCGTGCCTGTAGGATTTGACATTCTAGTGGGGAGACAGACAATAATACCCAAGAAAATAGAGAGTTTGCCAATGGGGCTGAGGGCTACTGGAGAGAGAATTCTGGTGGCCTTCCTGTGAGAGGTAAGGGGTTGGGGGGTGGGGCATGCAGGTGCGTGGGAGCAGTGACTTCCAAGCAGAGGGAACAGGAGATGCCAATGGTCAGAGGCAGGAGTGGGCCTGGGTGTCAGGGAACAGTGAGGAAGGCCAGGGAGGATCCTTGGCTGGTGGTAGCCATGGGGGTGGGGAGAAGAGGACATCCCCAGAGCTGTTTGGAAGGCAAACTCAGCATATTTTCATACCTTGGAGACCCCATGGCAGTCCCCAAGCCTGGACCCCTGGGGTCTCTGAGCCTCACAGGTTTTTACTAGTCCCTCCCTGGTCTGAGGCTCCTAGTCTCCTGGAGAGAGTGGTGGTCGGTCCTGCTAGTGACTCCATTCTGTTCTTGTCTGTCTCTTTGTCCTCCCTCCTGGACGCTCTTGAAGATAAAGGTACTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCAGGAAAATGCGTGTGGATGTGCCTGCTCCTGTGTGGGTGGAGGGACAGGCAGGAAAGGACATCCAAAGGCCTGTCCTAGGCAGGGCTGGGGCTTGTGGTCAGGGGCTGCTGTGGGGGGCCATGGAGGCTGGAATGGGGAAGCATGGGGCTTGCTGTGTGGGAGTTGGGCAGCATGGGGTGGGAAACACTGGGGGGCACTGGAGAGACCTCAGGATTCTCTAGGGAGCCCACCTCTGGTCATCTCTCATAAAGGGAGGTCCTTGGGAAGGCTCATGTCTGGGTGTCCCCAGCTATGCCCCCCACCCAGGCCCCCAGAACAGTGCCTAGCCCCTCAATTCCCACATCTCCTTCTGGAGTCCAGATCCTGGAGGCAACACCCCTCTTGGAGTCCTTCGGTAATGCCAAAACCGTCAGGAACGACAACTCCAGCCGCTTTGGGAAGTTTGTGGAAATCTTTCTGGAAGGGTGAGTTGGGACAGTGGAGGGCCTCCCAAAAGCCTTGCAGTGTCTTCCATGTCCTGCCACAGCCCCTCGGAGCCAACACCAGCCCTCCTACCCTCACTGAGAGCTGACTGTGCTCCCCACCCCAGGGGCGTGATCTCTGGTGCCATAACCTCCCAGTACCTGCTTGAGAAATCCAGGATCATGTTTCAGGTGGGCCACCCCCTCCCAGGCCTCTGTGTTGGGCAGGGTCGGGGTGGGAGGTACAGATACTCAGAGCCTGGCCCCTGGTAGGGCTAGGTAGACGTCAAATTAATGAACGAATACATGCGTACATGTGTACATGTGAGCCCAGGACCTCCCCTCCCCGACCCTCCTCCAGCCACGGTGGCTCCTCCCTGCCCCGCAGCACACAGGCACGCTCCTGCCAGGGCCTTTGCACCTTCTGTTCCTTCCCTCAGGAGCACTTATCCTTCAGGCACCTGCTTGGCCAAACCCCTCACCTCCTCCAAGTCTCCCCTACAATTTCACCCACTCAGGAAGCTCCCCATTTAAAAACGCAGCCCCTCTCCATCCCATCAGAGCCCCTACCCCGTCCACTGCTTTATTTCTCTCCAGTGTACTTTTCCCTGTCTCATATATTTTATGTTTTAAGCAGTTATTTGCTGAGTGTCTGTCTCCCTAGCTAGCAGGTGGGCTCCATCAGGTCAGGGGCTTCTCTCTACGTTGTTCCCCACTATGTCCCAAGGGCCTAGGACAGGGCTTGGTGCACAGGAAGTGCTCAGCCATCAAGAAGCTCTGTGTGTGCACATGTGGGCTATGGACACACATGTATGCAGGTGTGTGTGGCCGGTACACATAAGAGAAGACGGGTCCCTTTTCTCTTATTTCTCCTAACCAAATAAAATCCCACCAGAACCCTCTCAAACTTCAATCATACCAGGGCACCTCTGCTTCTGCCCTCACCCGCAGCTGGCACCAGGCTGGGAGCCTCACCCATCACAGAGGCGCGTGTTCTCATCTGCAGCCCACTGTGTGCATGTGCACTTGTGGGCAGGCTTGGGCTTGTATGTGTGCCTGGGGGTCACCTAGGTAGGTGGCTCCCTTCTCTGTGCCCACCTACCCACTCTACAGGCCAAAAACGAGAGGAATTACCACATCTTCTACGAGTTGCTGGCCGGGTTGCCTGCCCAGCTCAGGCAGGCCTTTAGCCTGCAAGAGGCTGAGACCTACTACTATCTGAACCAGGTGAGTGCCAGCAGGCATCTGAAGGCCCCTGGCCCTGGTCCTCCCACCCCGACGCCCCTGGCTGGGCCTTGGGAGCCGAGTTGTGAGTGATGGAGTGTGAAGGTGAAGGAGATTTGGGGAGGGTGAGTTTGGATTTAAGACATCTCATGGCAGTGAGGGGGACCAGGAGTCTTCTGGGTCCAAAGCGGAAGCAGGAAAGGCCTACCTGACTTCATTTCTCTGGAACCTGGAACAGAACCAACCAGTCTAGAGTTTCTACACTTCCCCTCTCTGTGCCTCAGTTTCCTCACCTGTAAAATGGGGACAACATAGTACCACTTTGCAGGGATGTAGTGAGGCTTAGATGAGGAAACGCATGTAAAGAGCTTAGCACAGGGCCTGGCATGCAGTACATGCTCAGTAAACACTTGCTACTCTTTTCATTACTATCACTGGGCAGCTGCAAAGGTCAACAGGTGACAACCCCTGCCACACATTGCACTTAGAATCTATGAACTCCGTCCTCAGCCGTGCTCAGAGCCTCCGTGCCCATGAGAGTGAAATGACAGCTTGAGTGACCAACTCAGGCCACCACACTACTGGTCAGGGCAGAGCAGGACCTGGAGGGCTCCCCAGCCCCACCCAAGCTCCCTGACCCTCAGCCTCTGCCCTCATGCAGGGTGGGAACTGTGAGATAGCAGGAAAGAGCGATGCAGATGACTTTCGCCGGCTCCTGGCTGCCATGGAGGTGTTGGGCTTCAGCAGTGAGGACCAGGACAGCATCTTCCGCATCCTGGCCTCCATCCTGCACCTGGGCAACGTCTACTTTGAGAAGTATGAGGTGAGGGGACGCCACAGCCTGCCATGGGGCCCGCACCCTCTGGACTTGGCCGTCTTTTCCAAGGCCTTCTCTGTTTCCCTTTCAGATTACACTATGCACATATCACTTGTTCCTGTTTTTTTCTTTTTTCCTTTGGGGTTGTTCATCTTTTTCCTCCTTATATATATTAAGGAAATCAGCCCTT
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Task1_train_23853
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The gene MYO15A (myosin XVA) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 3
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CACCCAGGCCCCCAGAACAGTGCCTAGCCCCTCAATTCCCACATCTCCTTCTGGAGTCCAGATCCTGGAGGCAACACCCCTCTTGGAGTCCTTCGGTAATGCCAAAACCGTCAGGAACGACAACTCCAGCCGCTTTGGGAAGTTTGTGGAAATCTTTCTGGAAGGGTGAGTTGGGACAGTGGAGGGCCTCCCAAAAGCCTTGCAGTGTCTTCCATGTCCTGCCACAGCCCCTCGGAGCCAACACCAGCCCTCCTACCCTCACTGAGAGCTGACTGTGCTCCCCACCCCAGGGGCGTGATCTCTGGTGCCATAACCTCCCAGTACCTGCTTGAGAAATCCAGGATCGTGTTTCAGGTGGGCCACCCCCTCCCAGGCCTCTGTGTTGGGCAGGGTCGGGGTGGGAGGTACAGATACTCAGAGCCTGGCCCCTGGTAGGGCTAGGTAGACGTCAAATTAATGAACGAATACATGCGTACATGTGTACATGTGAGCCCAGGACCTCCCCTCCCCGACCCTCCTCCAGCCACGGTGGCTCCTCCCTGCCCCGCAGCACACAGGCACGCTCCTGCCAGGGCCTTTGCACCTTCTGTTCCTTCCCTCAGGAGCACTTATCCTTCAGGCACCTGCTTGGCCAAACCCCTCACCTCCTCCAAGTCTCCCCTACAATTTCACCCACTCAGGAAGCTCCCCATTTAAAAACGCAGCCCCTCTCCATCCCATCAGAGCCCCTACCCCGTCCACTGCTTTATTTCTCTCCAGTGTACTTTTCCCTGTCTCATATATTTTATGTTTTAAGCAGTTATTTGCTGAGTGTCTGTCTCCCTAGCTAGCAGGTGGGCTCCATCAGGTCAGGGGCTTCTCTCTACGTTGTTCCCCACTATGTCCCAAGGGCCTAGGACAGGGCTTGGTGCACAGGAAGTGCTCAGCCATCAAGAAGCTCTGTGTGTGCACATGTGGGCTATGGACACACATGTATGCAGGTGTGTGTGGCCGGTACACATAAGAGAAGACGGGTCCCTTTTCTCTTATTTCTCCTAACCAAATAAAATCCCACCAGAACCCTCTCAAACTTCAATCATACCAGGGCACCTCTGCTTCTGCCCTCACCCGCAGCTGGCACCAGGCTGGGAGCCTCACCCATCACAGAGGCGCGTGTTCTCATCTGCAGCCCACTGTGTGCATGTGCACTTGTGGGCAGGCTTGGGCTTGTATGTGTGCCTGGGGGTCACCTAGGTAGGTGGCTCCCTTCTCTGTGCCCACCTACCCACTCTACAGGCCAAAAACGAGAGGAATTACCACATCTTCTACGAGTTGCTGGCCGGGTTGCCTGCCCAGCTCAGGCAGGCCTTTAGCCTGCAAGAGGCTGAGACCTACTACTATCTGAACCAGGTGAGTGCCAGCAGGCATCTGAAGGCCCCTGGCCCTGGTCCTCCCACCCCGACGCCCCTGGCTGGGCCTTGGGAGCCGAGTTGTGAGTGATGGAGTGTGAAGGTGAAGGAGATTTGGGGAGGGTGAGTTTGGATTTAAGACATCTCATGGCAGTGAGGGGGACCAGGAGTCTTCTGGGTCCAAAGCGGAAGCAGGAAAGGCCTACCTGACTTCATTTCTCTGGAACCTGGAACAGAACCAACCAGTCTAGAGTTTCTACACTTCCCCTCTCTGTGCCTCAGTTTCCTCACCTGTAAAATGGGGACAACATAGTACCACTTTGCAGGGATGTAGTGAGGCTTAGATGAGGAAACGCATGTAAAGAGCTTAGCACAGGGCCTGGCATGCAGTACATGCTCAGTAAACACTTGCTACTCTTTTCATTACTATCACTGGGCAGCTGCAAAGGTCAACAGGTGACAACCCCTGCCACACATTGCACTTAGAATCTATGAACTCCGTCCTCAGCCGTGCTCAGAGCCTCCGTGCCCATGAGAGTGAAATGACAGCTTGAGTGACCAACTCAGGCCACCACACTACTGGTCAGGGCAGAGCAGGACCTGGAGGGCTCCCCAGCCCCACCCAAGCTCCCTGACCCTCAGCCTCTGCCCTCATGCAGGGTGGGAACTGTGAGATAGCAGGAAAGAGCGATGCAGATGACTTTCGCCGGCTCCTGGCTGCCATGGAGGTGTTGGGCTTCAGCAGTGAGGACCAGGACAGCATCTTCCGCATCCTGGCCTCCATCCTGCACCTGGGCAACGTCTACTTTGAGAAGTATGAGGTGAGGGGACGCCACAGCCTGCCATGGGGCCCGCACCCTCTGGACTTGGCCGTCTTTTCCAAGGCCTTCTCTGTTTCCCTTTCAGATTACACTATGCACATATCACTTGTTCCTGTTTTTTTCTTTTTTCCTTTGGGGTTGTTCATCTTTTTCCTCCTTATATATATTAAGGAAATCAGCCCTTTGTGTCTGATATGAATTGCAAATATATATTCCAGTTTGTCATTTATGTTTTAACTTTGTTTACAATGTTTTTTGGTGGGTTTTTATTGGCGGGGAGGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGCAGTCTTGGCTCACTCCTGTTGGCTCACTGCAACCACCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCGACTGCCTGGGATTACAGGCACACACCACTACCGCCCCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCGGCCTCGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCGCGCCCAGCCCTTTGGTGTTTATTTTATTTTATTTTATTTTTATTTATTTATTTTTTCTTTGAGATGGAGTCTCGCCCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCCCCTGCCTCAACCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTGGCCAGGATGGTCTCGCTCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGCCGTGAGCCACCGTGCCCCGGCCTGTTGGGTTTTTTATGCAAATTGTTTTAAAATTATTTTTAGATAGTTCATTTATCAATATTTTCTAGTACATTTAAATTTTATATTTGAAATTTTAAACTTTTTCATTTTTGGAGAAACTTCCTAAAATTGTAACAGCCTTCTTCCATAACTTTTTCTAAGACCTTTTATGGATTTTGTGAGTTTTAAAAAACACTTAAATCTTTGATCCATCCAAATTTATCCCAGTAAGGTGTGACGTAGGAATCCAACTTTTTTCCCAGGTGGTTACTCAATTGTCCTAATCTCTTGATTTGAAAAATACATCTTTATTAGCTGGGTATGGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGGCAGGTGGATTGCTCGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGCAAGACCTCATCTCTACAAAAAAAAATTATTTTTAAAAAAGAAAGAAAAATACATCTTTGTCATGTGCTAAGTTTATATATACATTTATGTCTAATTCCAGACGTTCTATTGTGCTTTGTTAATCTATTTATGTACTGTGTCTATGACTACACTGGTTTTTTTCTTTTAATCGGCTTTTTTTTCTTTTTATTTTTTGAGACAGGGTCTCACTTTATGGCTCAGGCTGGAGTACAGTGGCACTTTCATAGCTCACTGCAGCCTCAACCTCCTAGGCCCAAGCAATCCTCCTGCCTCAGCTCCTGAGTAGCTGGGACTACAGGTCTAGGTCCCATGCCCAGCACATTTTTTAGACAGGGTCTCACTATGTTGCCAGGCTGGTCTTGAACTCCCTGCCTCATTCGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGTGCCCAGCCTGTTTCTGTTTTTTATTTTTTCGAGACGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGTAATGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAAC
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CACCCAGGCCCCCAGAACAGTGCCTAGCCCCTCAATTCCCACATCTCCTTCTGGAGTCCAGATCCTGGAGGCAACACCCCTCTTGGAGTCCTTCGGTAATGCCAAAACCGTCAGGAACGACAACTCCAGCCGCTTTGGGAAGTTTGTGGAAATCTTTCTGGAAGGGTGAGTTGGGACAGTGGAGGGCCTCCCAAAAGCCTTGCAGTGTCTTCCATGTCCTGCCACAGCCCCTCGGAGCCAACACCAGCCCTCCTACCCTCACTGAGAGCTGACTGTGCTCCCCACCCCAGGGGCGTGATCTCTGGTGCCATAACCTCCCAGTACCTGCTTGAGAAATCCAGGATCGTGTTTCAGGTGGGCCACCCCCTCCCAGGCCTCTGTGTTGGGCAGGGTCGGGGTGGGAGGTACAGATACTCAGAGCCTGGCCCCTGGTAGGGCTAGGTAGACGTCAAATTAATGAACGAATACATGCGTACATGTGTACATGTGAGCCCAGGACCTCCCCTCCCCGACCCTCCTCCAGCCACGGTGGCTCCTCCCTGCCCCGCAGCACACAGGCACGCTCCTGCCAGGGCCTTTGCACCTTCTGTTCCTTCCCTCAGGAGCACTTATCCTTCAGGCACCTGCTTGGCCAAACCCCTCACCTCCTCCAAGTCTCCCCTACAATTTCACCCACTCAGGAAGCTCCCCATTTAAAAACGCAGCCCCTCTCCATCCCATCAGAGCCCCTACCCCGTCCACTGCTTTATTTCTCTCCAGTGTACTTTTCCCTGTCTCATATATTTTATGTTTTAAGCAGTTATTTGCTGAGTGTCTGTCTCCCTAGCTAGCAGGTGGGCTCCATCAGGTCAGGGGCTTCTCTCTACGTTGTTCCCCACTATGTCCCAAGGGCCTAGGACAGGGCTTGGTGCACAGGAAGTGCTCAGCCATCAAGAAGCTCTGTGTGTGCACATGTGGGCTATGGACACACATGTATGCAGGTGTGTGTGGCCGGTACACATAAGAGAAGACGGGTCCCTTTTCTCTTATTTCTCCTAACCAAATAAAATCCCACCAGAACCCTCTCAAACTTCAATCATACCAGGGCACCTCTGCTTCTGCCCTCACCCGCAGCTGGCACCAGGCTGGGAGCCTCACCCATCACAGAGGCGCGTGTTCTCATCTGCAGCCCACTGTGTGCATGTGCACTTGTGGGCAGGCTTGGGCTTGTATGTGTGCCTGGGGGTCACCTAGGTAGGTGGCTCCCTTCTCTGTGCCCACCTACCCACTCTACAGGCCAAAAACGAGAGGAATTACCACATCTTCTACGAGTTGCTGGCCGGGTTGCCTGCCCAGCTCAGGCAGGCCTTTAGCCTGCAAGAGGCTGAGACCTACTACTATCTGAACCAGGTGAGTGCCAGCAGGCATCTGAAGGCCCCTGGCCCTGGTCCTCCCACCCCGACGCCCCTGGCTGGGCCTTGGGAGCCGAGTTGTGAGTGATGGAGTGTGAAGGTGAAGGAGATTTGGGGAGGGTGAGTTTGGATTTAAGACATCTCATGGCAGTGAGGGGGACCAGGAGTCTTCTGGGTCCAAAGCGGAAGCAGGAAAGGCCTACCTGACTTCATTTCTCTGGAACCTGGAACAGAACCAACCAGTCTAGAGTTTCTACACTTCCCCTCTCTGTGCCTCAGTTTCCTCACCTGTAAAATGGGGACAACATAGTACCACTTTGCAGGGATGTAGTGAGGCTTAGATGAGGAAACGCATGTAAAGAGCTTAGCACAGGGCCTGGCATGCAGTACATGCTCAGTAAACACTTGCTACTCTTTTCATTACTATCACTGGGCAGCTGCAAAGGTCAACAGGTGACAACCCCTGCCACACATTGCACTTAGAATCTATGAACTCCGTCCTCAGCCGTGCTCAGAGCCTCCGTGCCCATGAGAGTGAAATGACAGCTTGAGTGACCAACTCAGGCCACCACACTACTGGTCAGGGCAGAGCAGGACCTGGAGGGCTCCCCAGCCCCACCCAAGCTCCCTGACCCTCAGCCTCTGCCCTCATGCAGGTTGGGAACTGTGAGATAGCAGGAAAGAGCGATGCAGATGACTTTCGCCGGCTCCTGGCTGCCATGGAGGTGTTGGGCTTCAGCAGTGAGGACCAGGACAGCATCTTCCGCATCCTGGCCTCCATCCTGCACCTGGGCAACGTCTACTTTGAGAAGTATGAGGTGAGGGGACGCCACAGCCTGCCATGGGGCCCGCACCCTCTGGACTTGGCCGTCTTTTCCAAGGCCTTCTCTGTTTCCCTTTCAGATTACACTATGCACATATCACTTGTTCCTGTTTTTTTCTTTTTTCCTTTGGGGTTGTTCATCTTTTTCCTCCTTATATATATTAAGGAAATCAGCCCTTTGTGTCTGATATGAATTGCAAATATATATTCCAGTTTGTCATTTATGTTTTAACTTTGTTTACAATGTTTTTTGGTGGGTTTTTATTGGCGGGGAGGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGCAGTCTTGGCTCACTCCTGTTGGCTCACTGCAACCACCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCGACTGCCTGGGATTACAGGCACACACCACTACCGCCCCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCGGCCTCGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCGCGCCCAGCCCTTTGGTGTTTATTTTATTTTATTTTATTTTTATTTATTTATTTTTTCTTTGAGATGGAGTCTCGCCCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCCCCTGCCTCAACCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTGGCCAGGATGGTCTCGCTCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGCCGTGAGCCACCGTGCCCCGGCCTGTTGGGTTTTTTATGCAAATTGTTTTAAAATTATTTTTAGATAGTTCATTTATCAATATTTTCTAGTACATTTAAATTTTATATTTGAAATTTTAAACTTTTTCATTTTTGGAGAAACTTCCTAAAATTGTAACAGCCTTCTTCCATAACTTTTTCTAAGACCTTTTATGGATTTTGTGAGTTTTAAAAAACACTTAAATCTTTGATCCATCCAAATTTATCCCAGTAAGGTGTGACGTAGGAATCCAACTTTTTTCCCAGGTGGTTACTCAATTGTCCTAATCTCTTGATTTGAAAAATACATCTTTATTAGCTGGGTATGGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGGCAGGTGGATTGCTCGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGCAAGACCTCATCTCTACAAAAAAAAATTATTTTTAAAAAAGAAAGAAAAATACATCTTTGTCATGTGCTAAGTTTATATATACATTTATGTCTAATTCCAGACGTTCTATTGTGCTTTGTTAATCTATTTATGTACTGTGTCTATGACTACACTGGTTTTTTTCTTTTAATCGGCTTTTTTTTCTTTTTATTTTTTGAGACAGGGTCTCACTTTATGGCTCAGGCTGGAGTACAGTGGCACTTTCATAGCTCACTGCAGCCTCAACCTCCTAGGCCCAAGCAATCCTCCTGCCTCAGCTCCTGAGTAGCTGGGACTACAGGTCTAGGTCCCATGCCCAGCACATTTTTTAGACAGGGTCTCACTATGTTGCCAGGCTGGTCTTGAACTCCCTGCCTCATTCGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGTGCCCAGCCTGTTTCTGTTTTTTATTTTTTCGAGACGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGTAATGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAAC
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Task1_train_23854
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This genomic variant is located on Chromosome 17, within the MYO15A (myosin XVA) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 3
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ACAACTCCAGCCGCTTTGGGAAGTTTGTGGAAATCTTTCTGGAAGGGTGAGTTGGGACAGTGGAGGGCCTCCCAAAAGCCTTGCAGTGTCTTCCATGTCCTGCCACAGCCCCTCGGAGCCAACACCAGCCCTCCTACCCTCACTGAGAGCTGACTGTGCTCCCCACCCCAGGGGCGTGATCTCTGGTGCCATAACCTCCCAGTACCTGCTTGAGAAATCCAGGATCGTGTTTCAGGTGGGCCACCCCCTCCCAGGCCTCTGTGTTGGGCAGGGTCGGGGTGGGAGGTACAGATACTCAGAGCCTGGCCCCTGGTAGGGCTAGGTAGACGTCAAATTAATGAACGAATACATGCGTACATGTGTACATGTGAGCCCAGGACCTCCCCTCCCCGACCCTCCTCCAGCCACGGTGGCTCCTCCCTGCCCCGCAGCACACAGGCACGCTCCTGCCAGGGCCTTTGCACCTTCTGTTCCTTCCCTCAGGAGCACTTATCCTTCAGGCACCTGCTTGGCCAAACCCCTCACCTCCTCCAAGTCTCCCCTACAATTTCACCCACTCAGGAAGCTCCCCATTTAAAAACGCAGCCCCTCTCCATCCCATCAGAGCCCCTACCCCGTCCACTGCTTTATTTCTCTCCAGTGTACTTTTCCCTGTCTCATATATTTTATGTTTTAAGCAGTTATTTGCTGAGTGTCTGTCTCCCTAGCTAGCAGGTGGGCTCCATCAGGTCAGGGGCTTCTCTCTACGTTGTTCCCCACTATGTCCCAAGGGCCTAGGACAGGGCTTGGTGCACAGGAAGTGCTCAGCCATCAAGAAGCTCTGTGTGTGCACATGTGGGCTATGGACACACATGTATGCAGGTGTGTGTGGCCGGTACACATAAGAGAAGACGGGTCCCTTTTCTCTTATTTCTCCTAACCAAATAAAATCCCACCAGAACCCTCTCAAACTTCAATCATACCAGGGCACCTCTGCTTCTGCCCTCACCCGCAGCTGGCACCAGGCTGGGAGCCTCACCCATCACAGAGGCGCGTGTTCTCATCTGCAGCCCACTGTGTGCATGTGCACTTGTGGGCAGGCTTGGGCTTGTATGTGTGCCTGGGGGTCACCTAGGTAGGTGGCTCCCTTCTCTGTGCCCACCTACCCACTCTACAGGCCAAAAACGAGAGGAATTACCACATCTTCTACGAGTTGCTGGCCGGGTTGCCTGCCCAGCTCAGGCAGGCCTTTAGCCTGCAAGAGGCTGAGACCTACTACTATCTGAACCAGGTGAGTGCCAGCAGGCATCTGAAGGCCCCTGGCCCTGGTCCTCCCACCCCGACGCCCCTGGCTGGGCCTTGGGAGCCGAGTTGTGAGTGATGGAGTGTGAAGGTGAAGGAGATTTGGGGAGGGTGAGTTTGGATTTAAGACATCTCATGGCAGTGAGGGGGACCAGGAGTCTTCTGGGTCCAAAGCGGAAGCAGGAAAGGCCTACCTGACTTCATTTCTCTGGAACCTGGAACAGAACCAACCAGTCTAGAGTTTCTACACTTCCCCTCTCTGTGCCTCAGTTTCCTCACCTGTAAAATGGGGACAACATAGTACCACTTTGCAGGGATGTAGTGAGGCTTAGATGAGGAAACGCATGTAAAGAGCTTAGCACAGGGCCTGGCATGCAGTACATGCTCAGTAAACACTTGCTACTCTTTTCATTACTATCACTGGGCAGCTGCAAAGGTCAACAGGTGACAACCCCTGCCACACATTGCACTTAGAATCTATGAACTCCGTCCTCAGCCGTGCTCAGAGCCTCCGTGCCCATGAGAGTGAAATGACAGCTTGAGTGACCAACTCAGGCCACCACACTACTGGTCAGGGCAGAGCAGGACCTGGAGGGCTCCCCAGCCCCACCCAAGCTCCCTGACCCTCAGCCTCTGCCCTCATGCAGGGTGGGAACTGTGAGATAGCAGGAAAGAGCGATGCAGATGACTTTCGCCGGCTCCTGGCTGCCATGGAGGTGTTGGGCTTCAGCAGTGAGGACCAGGACAGCATCTTCCGCATCCTGGCCTCCATCCTGCACCTGGGCAACGTCTACTTTGAGAAGTATGAGGTGAGGGGACGCCACAGCCTGCCATGGGGCCCGCACCCTCTGGACTTGGCCGTCTTTTCCAAGGCCTTCTCTGTTTCCCTTTCAGATTACACTATGCACATATCACTTGTTCCTGTTTTTTTCTTTTTTCCTTTGGGGTTGTTCATCTTTTTCCTCCTTATATATATTAAGGAAATCAGCCCTTTGTGTCTGATATGAATTGCAAATATATATTCCAGTTTGTCATTTATGTTTTAACTTTGTTTACAATGTTTTTTGGTGGGTTTTTATTGGCGGGGAGGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGCAGTCTTGGCTCACTCCTGTTGGCTCACTGCAACCACCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCGACTGCCTGGGATTACAGGCACACACCACTACCGCCCCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCGGCCTCGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCGCGCCCAGCCCTTTGGTGTTTATTTTATTTTATTTTATTTTTATTTATTTATTTTTTCTTTGAGATGGAGTCTCGCCCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCCCCTGCCTCAACCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTGGCCAGGATGGTCTCGCTCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGCCGTGAGCCACCGTGCCCCGGCCTGTTGGGTTTTTTATGCAAATTGTTTTAAAATTATTTTTAGATAGTTCATTTATCAATATTTTCTAGTACATTTAAATTTTATATTTGAAATTTTAAACTTTTTCATTTTTGGAGAAACTTCCTAAAATTGTAACAGCCTTCTTCCATAACTTTTTCTAAGACCTTTTATGGATTTTGTGAGTTTTAAAAAACACTTAAATCTTTGATCCATCCAAATTTATCCCAGTAAGGTGTGACGTAGGAATCCAACTTTTTTCCCAGGTGGTTACTCAATTGTCCTAATCTCTTGATTTGAAAAATACATCTTTATTAGCTGGGTATGGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGGCAGGTGGATTGCTCGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGCAAGACCTCATCTCTACAAAAAAAAATTATTTTTAAAAAAGAAAGAAAAATACATCTTTGTCATGTGCTAAGTTTATATATACATTTATGTCTAATTCCAGACGTTCTATTGTGCTTTGTTAATCTATTTATGTACTGTGTCTATGACTACACTGGTTTTTTTCTTTTAATCGGCTTTTTTTTCTTTTTATTTTTTGAGACAGGGTCTCACTTTATGGCTCAGGCTGGAGTACAGTGGCACTTTCATAGCTCACTGCAGCCTCAACCTCCTAGGCCCAAGCAATCCTCCTGCCTCAGCTCCTGAGTAGCTGGGACTACAGGTCTAGGTCCCATGCCCAGCACATTTTTTAGACAGGGTCTCACTATGTTGCCAGGCTGGTCTTGAACTCCCTGCCTCATTCGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGTGCCCAGCCTGTTTCTGTTTTTTATTTTTTCGAGACGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGTAATGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCGTGGCTATTTTTGTTTTTTTAAGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGA
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ACAACTCCAGCCGCTTTGGGAAGTTTGTGGAAATCTTTCTGGAAGGGTGAGTTGGGACAGTGGAGGGCCTCCCAAAAGCCTTGCAGTGTCTTCCATGTCCTGCCACAGCCCCTCGGAGCCAACACCAGCCCTCCTACCCTCACTGAGAGCTGACTGTGCTCCCCACCCCAGGGGCGTGATCTCTGGTGCCATAACCTCCCAGTACCTGCTTGAGAAATCCAGGATCGTGTTTCAGGTGGGCCACCCCCTCCCAGGCCTCTGTGTTGGGCAGGGTCGGGGTGGGAGGTACAGATACTCAGAGCCTGGCCCCTGGTAGGGCTAGGTAGACGTCAAATTAATGAACGAATACATGCGTACATGTGTACATGTGAGCCCAGGACCTCCCCTCCCCGACCCTCCTCCAGCCACGGTGGCTCCTCCCTGCCCCGCAGCACACAGGCACGCTCCTGCCAGGGCCTTTGCACCTTCTGTTCCTTCCCTCAGGAGCACTTATCCTTCAGGCACCTGCTTGGCCAAACCCCTCACCTCCTCCAAGTCTCCCCTACAATTTCACCCACTCAGGAAGCTCCCCATTTAAAAACGCAGCCCCTCTCCATCCCATCAGAGCCCCTACCCCGTCCACTGCTTTATTTCTCTCCAGTGTACTTTTCCCTGTCTCATATATTTTATGTTTTAAGCAGTTATTTGCTGAGTGTCTGTCTCCCTAGCTAGCAGGTGGGCTCCATCAGGTCAGGGGCTTCTCTCTACGTTGTTCCCCACTATGTCCCAAGGGCCTAGGACAGGGCTTGGTGCACAGGAAGTGCTCAGCCATCAAGAAGCTCTGTGTGTGCACATGTGGGCTATGGACACACATGTATGCAGGTGTGTGTGGCCGGTACACATAAGAGAAGACGGGTCCCTTTTCTCTTATTTCTCCTAACCAAATAAAATCCCACCAGAACCCTCTCAAACTTCAATCATACCAGGGCACCTCTGCTTCTGCCCTCACCCGCAGCTGGCACCAGGCTGGGAGCCTCACCCATCACAGAGGCGCGTGTTCTCATCTGCAGCCCACTGTGTGCATGTGCACTTGTGGGCAGGCTTGGGCTTGTATGTGTGCCTGGGGGTCACCTAGGTAGGTGGCTCCCTTCTCTGTGCCCACCTACCCACTCTACAGGCCAAAAACGAGAGGAATTACCACATCTTCTACGAGTTGCTGGCCGGGTTGCCTGCCCAGCTCAGGCAGGCCTTTAGCCTGCAAGAGGCTGAGACCTACTACTATCTGAACCAGGTGAGTGCCAGCAGGCATCTGAAGGCCCCTGGCCCTGGTCCTCCCACCCCGACGCCCCTGGCTGGGCCTTGGGAGCCGAGTTGTGAGTGATGGAGTGTGAAGGTGAAGGAGATTTGGGGAGGGTGAGTTTGGATTTAAGACATCTCATGGCAGTGAGGGGGACCAGGAGTCTTCTGGGTCCAAAGCGGAAGCAGGAAAGGCCTACCTGACTTCATTTCTCTGGAACCTGGAACAGAACCAACCAGTCTAGAGTTTCTACACTTCCCCTCTCTGTGCCTCAGTTTCCTCACCTGTAAAATGGGGACAACATAGTACCACTTTGCAGGGATGTAGTGAGGCTTAGATGAGGAAACGCATGTAAAGAGCTTAGCACAGGGCCTGGCATGCAGTACATGCTCAGTAAACACTTGCTACTCTTTTCATTACTATCACTGGGCAGCTGCAAAGGTCAACAGGTGACAACCCCTGCCACACATTGCACTTAGAATCTATGAACTCCGTCCTCAGCCGTGCTCAGAGCCTCCGTGCCCATGAGAGTGAAATGACAGCTTGAGTGACCAACTCAGGCCACCACACTACTGGTCAGGGCAGAGCAGGACCTGGAGGGCTCCCCAGCCCCACCCAAGCTCCCTGACCCTCAGCCTCTGCCCTCATGCAGGGTGGGAACTGTGAGATAGCAGGAAAGAGCGATGCAGATGACTTTCGCCGGCTCCTGGCTGCCATGGAGGTGTTGGGCTTCAGCAGTGAGGACCAGGACAGCATCTTCCGCATCCTGGCCCCCATCCTGCACCTGGGCAACGTCTACTTTGAGAAGTATGAGGTGAGGGGACGCCACAGCCTGCCATGGGGCCCGCACCCTCTGGACTTGGCCGTCTTTTCCAAGGCCTTCTCTGTTTCCCTTTCAGATTACACTATGCACATATCACTTGTTCCTGTTTTTTTCTTTTTTCCTTTGGGGTTGTTCATCTTTTTCCTCCTTATATATATTAAGGAAATCAGCCCTTTGTGTCTGATATGAATTGCAAATATATATTCCAGTTTGTCATTTATGTTTTAACTTTGTTTACAATGTTTTTTGGTGGGTTTTTATTGGCGGGGAGGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGCAGTCTTGGCTCACTCCTGTTGGCTCACTGCAACCACCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCGACTGCCTGGGATTACAGGCACACACCACTACCGCCCCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCGGCCTCGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCGCGCCCAGCCCTTTGGTGTTTATTTTATTTTATTTTATTTTTATTTATTTATTTTTTCTTTGAGATGGAGTCTCGCCCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCCCCTGCCTCAACCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTGGCCAGGATGGTCTCGCTCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGCCGTGAGCCACCGTGCCCCGGCCTGTTGGGTTTTTTATGCAAATTGTTTTAAAATTATTTTTAGATAGTTCATTTATCAATATTTTCTAGTACATTTAAATTTTATATTTGAAATTTTAAACTTTTTCATTTTTGGAGAAACTTCCTAAAATTGTAACAGCCTTCTTCCATAACTTTTTCTAAGACCTTTTATGGATTTTGTGAGTTTTAAAAAACACTTAAATCTTTGATCCATCCAAATTTATCCCAGTAAGGTGTGACGTAGGAATCCAACTTTTTTCCCAGGTGGTTACTCAATTGTCCTAATCTCTTGATTTGAAAAATACATCTTTATTAGCTGGGTATGGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGGCAGGTGGATTGCTCGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGCAAGACCTCATCTCTACAAAAAAAAATTATTTTTAAAAAAGAAAGAAAAATACATCTTTGTCATGTGCTAAGTTTATATATACATTTATGTCTAATTCCAGACGTTCTATTGTGCTTTGTTAATCTATTTATGTACTGTGTCTATGACTACACTGGTTTTTTTCTTTTAATCGGCTTTTTTTTCTTTTTATTTTTTGAGACAGGGTCTCACTTTATGGCTCAGGCTGGAGTACAGTGGCACTTTCATAGCTCACTGCAGCCTCAACCTCCTAGGCCCAAGCAATCCTCCTGCCTCAGCTCCTGAGTAGCTGGGACTACAGGTCTAGGTCCCATGCCCAGCACATTTTTTAGACAGGGTCTCACTATGTTGCCAGGCTGGTCTTGAACTCCCTGCCTCATTCGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGTGCCCAGCCTGTTTCTGTTTTTTATTTTTTCGAGACGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGTAATGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCGTGGCTATTTTTGTTTTTTTAAGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGA
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Task1_train_23855
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This gene mutation involves MYO15A (myosin XVA) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 3
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TCTCCATGTTGGTCAGGTTGGTCTCGAACTCCTGGCCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGACTACTGGCATGAGCCACAGTGCCCGGCCCTGTTTTTCATATGAACTTTAAATTTAGCCTATCTAGTTCAAAGCACATTCCTGTTGGTATTTTGCATAGACGGATGCACAGGAGGTGGCCTCAGTGGTGAGTGCCCGAGAGATCCAGGCCGTGGCAGAGCTGCTGCAGATCTCCCCTGAGGGCCTGCAGAAGGCCATCACCTTCAAAGTGACCGTGAGTCTGTGGGCATCTGGCCTTCGAACAAAGCTTTCTACCAGGGCCTGGACAGAGCTGCTTGTGCCGATCCTTTGTGGGCAGCCTCTCCCTCTCTCCTGCTCTCTCTGTCCCTGGGTCAGGCATGGAGGGGAGTAATTTCAGACCCCAGAGACATTTCAGATTCCAGTCTCAGACTGTTGCATAGGCTGTTTCCTCTACCCGGAATGCTCTTCCTCTTTTCACACCTACTCATCCTTTAAGACCCTATCCAGGTATCCCCTCCTCTAAGAAGCCTTCCCTAATCTTTGGACGGGTCAGTGCCTCCTCTGGTCTTTCACAGTCCTAGGCCCATTCTCCCTTCCCAGGGTTGATCTCATTGTATCTGCTGATGCCTCTGTCTCCCCCATTAGACCTGCAGTCCCCACTACTACCAGCATTTCCAGGCAGAGTCAGAGTGGGGGCAGGGGTGGTCCTGCCTAGTCTCTGTGTGCACAGTCACAACATCCCTCCAGCCTCCCTTCTCCATGATCCCACTCCCTTAGTCCCCTGGGGGCTTTCCGGAGGCAGAGTGGCCAGCCTGATGTCACTCAAGGGCTGTGCCCGTCCCTAGGAGACAATGCGAGAGAAGATCTTCACGCCCCTAACTGTGGAGAGCGCTGTGGATGCCAGGTGAGGCCACGCCCTCCCCTGCCTGAGCCCCGAGGCCCAGCACCCCACCACGGTGTCCTGCTCACACCAGCACCACCTCTGCTCCAGGGACGCCATCGCCAAGGTCTTGTATGCACTGCTGTTCAGCTGGCTCATCACCAGGGTCAACGCGCTGGTGTCCCCAAGGCAGGACACACTGTCCATCGCCATCCTGGACATCTATGGTTTCGAGGTGGGGCCGTGTAGGAGGCTGAGGGGCGGGGGACATAGGCAAGGTCTCGCCTCCCTCAGGCGTCTCGGGCTGCCCTTCCCATCCCTTTCTGTGCCTGCAGCAGGTGCCATCCTCCCTTCATGGACCCCTCCCTGTCACCATCTCCCTTGTCTCCTTCCATTTTCTTTACTCACCACAAGTACTCCCAAGGCCTCTGGGCCAGGCCCTGTGCTGGGCAATACCAGCTGCCCAGAAAGGACCAGCCAGGGCCCTGCCCTTGGGGAGCTTCCAGGTGAGGCTGGGTGGGGAAGGCTTCCTGGATGAGGATGAGACACTCCTGAGACCCAGCAAAGGCACTGTAGGTGCAGGGAACAGAATATGCAAGGGCTGGGAGGGGTGGCGGGTCATGAGGTCTGGGACTGGACTTCGTGTGTTGGGGGGTGACTGTTTTGTGAGTGCACAGCAAAGGAAGTGGTGAGGGACAGGGCAAGATCACCATGCAGCCATCACAGGCACTCACGTGGCACCTGTTATGTGCCAGGTGCTGTTTAAAGCACTTTGTTAATTCACTTCATCCTTACAGCAACCCTATGAGGCAGGTACTGTCAGTATCCTCATTTTACAGATGGGGAAACTGAGGCATGGGGCTGTTATTCAAGGTTATGTAGCTAGAAAATGGCAGAGCCAGCATTTGAACCCAGGCAGAAGGCCCCAGAGCCTTGGCCTTCAGGCACTGCCTGTGCTGTCAGGACAGAGCCTGTCAGATTCTGTCCTGGGTGCAGCAGGAGCTGTGGAGGGTTGTGAGCTGAGGGCCTGTGGCTGAGCTCCAGCTTTTTGAAGTTGCCACCAGGGAAGGTAGGGGCAAACAGGCTGGTGGCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTGTCTTGACTGGCCAGTGGACCTCCTTGGAGACAGATGAGGATATACTGGTTGTTTAAGGGCAATTCTGACATCAGTAGACAGTAGAGGGAAAGGCATTCTAAGCTGGGGACCAGCCCATGGGAAGGCCTCTGTTCTGGAGGGAAAGGTGCTGAGGTGCTGTGCTCAGAGAGGAGTCCCCTTGGTGGGGGTCCTTCTTCTCCTCTACTGGGCTGTCCCAGGCAGAGGGAGCAGCAGGACCCTGAGTTGGCTCATGCTGCCTTATTAGGGGGTGAGCTCCCTGTTCTGGGAGGTATGCAAGCAGAGGTGCTGCTGGCCAGGCTCCTTCAGATTCAACATGGGAGGGAGGGTGGGTGGGCCCTGGACAGGGATGGGAGGTTGAGCTCCTGCTGCCCACTGCCTGCAGGAGGAGTACATCCGTGAGCAGATAGACTGGCAGGAGATCACCTTTGCTGACAACCAGCCCTGCATCAACCTCATCTCACTGAAGCCTTATGGCATCCTGCGGATCCTTGACGACCAGTGTTGCTTTCCCCAGGTGAGCCGCAGGCACTGTGTGAGCCTAGTCAGGTCACAGATCTCTCAGCCTCATGTCCTCATCCCACCCTGACTCCTTCATTCCTCTCTGCTCTGGCCTGAGTCAGGCAGTGGGGGGTTGGGACACCCGACCTACTATTCACAACCTGGGGTGATTGAGGCCAGATGGGCCGCTGTGGGTGTTCAGAAGAGAGGCTACACCAGTCTGGAAAGCCACAGAAGGTTTCCTGGAGTAGGTAACCTTGGAATTGGGCCTCAAATCCTGATTGCAAAACACAAGGGTGGAATGGCAGTGAGATCAATAGAGTGCAAAGGCAGTTGGCCTGGAGGGGAGGCAGTTAGGAGCTCACCCAGCTACACCTATCTTCAAGGGACCACTCAGGCCTCCAGTGCCTAGCTAAGGCACTCGCCTTCTGACCCAGGGAGATGGGCAGCCATGGGAAGCTGTGAGTTGTTCCTCTCTGGTGCTCAGTTGGGAGCAGTCGGGGATAGTGAGGTTGCCACCAGGCCAGGAACAGGGTGTCCAGGCCTCCTGCCCACCCACTGATCCCTAAATTGCCCCCAGGCTACAGACCACACCTTCCTACAGAAGTGCCACTACCATCATGGCGCCAACCCGCTCTATTCCAAACCCAAGATGCCGCTGCCTGAGTTCACCATCAAGCACTATGCAGGCAAGGTCACCTACCAGGTGAGCCCTAAGACAGTCGGCCTGGACGCTGGTGCTGCAGTGCTGCTAGCTGTTGGAGACACAGAAGCACAACACTGGCCCCAGACATTCACAGCCAGGTCCAATTCTGGCTCTGCTGTGCCCCAGCTCTGTGACCTTGAGCAAATTGCTTAGCCAGTCTGAGCCTCAGTTCTCTCACTTGGAAAATGGGGTAATAATAGTGCCCAACTCATGGGGCAGGTGTGAAAAATGTAGGGTGGGTTTGATAAAGAGTAGCTCATCAATAGTGACATCACTATGGTCACCCTCATCACTATTATCTGAGGCACATTCCTGCCCTGGAGGTGTCTCAGGCTAGGATTCCATGCCTCTGTCCCCATCCGGGCCTTACTTTTCTCATCTGTAGAATGGGCACAGGACAATGTCCTTCACTGAGGGTGAGGCCAAGACCCAGGTTGGTCATGAGAAGCCATGGCGAATGCTCCCCTCCCCCAGGAGTAGGGAGAATGGTGGGGGCTGGAGGGGTGGGGACCATAGAAGTGAGGAGGATCCAGTCCCTCCTAGGATAGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCG
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TCTCCATGTTGGTCAGGTTGGTCTCGAACTCCTGGCCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGACTACTGGCATGAGCCACAGTGCCCGGCCCTGTTTTTCATATGAACTTTAAATTTAGCCTATCTAGTTCAAAGCACATTCCTGTTGGTATTTTGCATAGACGGATGCACAGGAGGTGGCCTCAGTGGTGAGTGCCCGAGAGATCCAGGCCGTGGCAGAGCTGCTGCAGATCTCCCCTGAGGGCCTGCAGAAGGCCATCACCTTCAAAGTGACCGTGAGTCTGTGGGCATCTGGCCTTCGAACAAAGCTTTCTACCAGGGCCTGGACAGAGCTGCTTGTGCCGATCCTTTGTGGGCAGCCTCTCCCTCTCTCCTGCTCTCTCTGTCCCTGGGTCAGGCATGGAGGGGAGTAATTTCAGACCCCAGAGACATTTCAGATTCCAGTCTCAGACTGTTGCATAGGCTGTTTCCTCTACCCGGAATGCTCTTCCTCTTTTCACACCTACTCATCCTTTAAGACCCTATCCAGGTATCCCCTCCTCTAAGAAGCCTTCCCTAATCTTTGGACGGGTCAGTGCCTCCTCTGGTCTTTCACAGTCCTAGGCCCATTCTCCCTTCCCAGGGTTGATCTCATTGTATCTGCTGATGCCTCTGTCTCCCCCATTAGACCTGCAGTCCCCACTACTACCAGCATTTCCAGGCAGAGTCAGAGTGGGGGCAGGGGTGGTCCTGCCTAGTCTCTGTGTGCACAGTCACAACATCCCTCCAGCCTCCCTTCTCCATGATCCCACTCCCTTAGTCCCCTGGGGGCTTTCCGGAGGCAGAGTGGCCAGCCTGATGTCACTCAAGGGCTGTGCCCGTCCCTAGGAGACAATGCGAGAGAAGATCTTCACGCCCCTAACTGTGGAGAGCGCTGTGGATGCCAGGTGAGGCCACGCCCTCCCCTGCCTGAGCCCCGAGGCCCAGCACCCCACCACGGTGTCCTGCTCACACCAGCACCACCTCTGCTCCAGGGACGCCATCGCCAAGGTCTTGTATGCACTGCTGTTCAGCTGGCTCATCACCAGGGTCAACGCGCTGGTGTCCCCAAGGCAGGACACACTGTCCATCGCCATCCTGGACATCTATGGTTTCGAGGTGGGGCCGTGTAGGAGGCTGAGGGGCGGGGGACATAGGCAAGGTCTCGCCTCCCTCAGGCGTCTCGGGCTGCCCTTCCCATCCCTTTCTGTGCCTGCAGCAGGTGCCATCCTCCCTTCATGGACCCCTCCCTGTCACCATCTCCCTTGTCTCCTTCCATTTTCTTTACTCACCACAAGTACTCCCAAGGCCTCTGGGCCAGGCCCTGTGCTGGGCAATACCAGCTGCCCAGAAAGGACCAGCCAGGGCCCTGCCCTTGGGGAGCTTCCAGGTGAGGCTGGGTGGGGAAGGCTTCCTGGATGAGGATGAGACACTCCTGAGACCCAGCAAAGGCACTGTAGGTGCAGGGAACAGAATATGCAAGGGCTGGGAGGGGTGGCGGGTCATGAGGTCTGGGACTGGACTTCGTGTGTTGGGGGGTGACTGTTTTGTGAGTGCACAGCAAAGGAAGTGGTGAGGGACAGGGCAAGATCACCATGCAGCCATCACAGGCACTCACGTGGCACCTGTTATGTGCCAGGTGCTGTTTAAAGCACTTTGTTAATTCACTTCATCCTTACAGCAACCCTATGAGGCAGGTACTGTCAGTATCCTCATTTTACAGATGGGGAAACTGAGGCATGGGGCTGTTATTCAAGGTTATGTAGCTAGAAAATGGCAGAGCCAGCATTTGAACCCAGGCAGAAGGCCCCAGAGCCTTGGCCTTCAGGCACTGCCTGTGCTGTCAGGACAGAGCCTGTCAGATTCTGTCCTGGGTGCAGCAGGAGCTGTGGAGGGTTGTGAGCTGAGGGCCTGTGGCTGAGCTCCAGCTTTTTGAAGTTGCCACCAGGGAAGGTAGGGGCAAACAGGCTGGTGGCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGCACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTGTCTTGACTGGCCAGTGGACCTCCTTGGAGACAGATGAGGATATACTGGTTGTTTAAGGGCAATTCTGACATCAGTAGACAGTAGAGGGAAAGGCATTCTAAGCTGGGGACCAGCCCATGGGAAGGCCTCTGTTCTGGAGGGAAAGGTGCTGAGGTGCTGTGCTCAGAGAGGAGTCCCCTTGGTGGGGGTCCTTCTTCTCCTCTACTGGGCTGTCCCAGGCAGAGGGAGCAGCAGGACCCTGAGTTGGCTCATGCTGCCTTATTAGGGGGTGAGCTCCCTGTTCTGGGAGGTATGCAAGCAGAGGTGCTGCTGGCCAGGCTCCTTCAGATTCAACATGGGAGGGAGGGTGGGTGGGCCCTGGACAGGGATGGGAGGTTGAGCTCCTGCTGCCCACTGCCTGCAGGAGGAGTACATCCGTGAGCAGATAGACTGGCAGGAGATCACCTTTGCTGACAACCAGCCCTGCATCAACCTCATCTCACTGAAGCCTTATGGCATCCTGCGGATCCTTGACGACCAGTGTTGCTTTCCCCAGGTGAGCCGCAGGCACTGTGTGAGCCTAGTCAGGTCACAGATCTCTCAGCCTCATGTCCTCATCCCACCCTGACTCCTTCATTCCTCTCTGCTCTGGCCTGAGTCAGGCAGTGGGGGGTTGGGACACCCGACCTACTATTCACAACCTGGGGTGATTGAGGCCAGATGGGCCGCTGTGGGTGTTCAGAAGAGAGGCTACACCAGTCTGGAAAGCCACAGAAGGTTTCCTGGAGTAGGTAACCTTGGAATTGGGCCTCAAATCCTGATTGCAAAACACAAGGGTGGAATGGCAGTGAGATCAATAGAGTGCAAAGGCAGTTGGCCTGGAGGGGAGGCAGTTAGGAGCTCACCCAGCTACACCTATCTTCAAGGGACCACTCAGGCCTCCAGTGCCTAGCTAAGGCACTCGCCTTCTGACCCAGGGAGATGGGCAGCCATGGGAAGCTGTGAGTTGTTCCTCTCTGGTGCTCAGTTGGGAGCAGTCGGGGATAGTGAGGTTGCCACCAGGCCAGGAACAGGGTGTCCAGGCCTCCTGCCCACCCACTGATCCCTAAATTGCCCCCAGGCTACAGACCACACCTTCCTACAGAAGTGCCACTACCATCATGGCGCCAACCCGCTCTATTCCAAACCCAAGATGCCGCTGCCTGAGTTCACCATCAAGCACTATGCAGGCAAGGTCACCTACCAGGTGAGCCCTAAGACAGTCGGCCTGGACGCTGGTGCTGCAGTGCTGCTAGCTGTTGGAGACACAGAAGCACAACACTGGCCCCAGACATTCACAGCCAGGTCCAATTCTGGCTCTGCTGTGCCCCAGCTCTGTGACCTTGAGCAAATTGCTTAGCCAGTCTGAGCCTCAGTTCTCTCACTTGGAAAATGGGGTAATAATAGTGCCCAACTCATGGGGCAGGTGTGAAAAATGTAGGGTGGGTTTGATAAAGAGTAGCTCATCAATAGTGACATCACTATGGTCACCCTCATCACTATTATCTGAGGCACATTCCTGCCCTGGAGGTGTCTCAGGCTAGGATTCCATGCCTCTGTCCCCATCCGGGCCTTACTTTTCTCATCTGTAGAATGGGCACAGGACAATGTCCTTCACTGAGGGTGAGGCCAAGACCCAGGTTGGTCATGAGAAGCCATGGCGAATGCTCCCCTCCCCCAGGAGTAGGGAGAATGGTGGGGGCTGGAGGGGTGGGGACCATAGAAGTGAGGAGGATCCAGTCCCTCCTAGGATAGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCG
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Task1_train_23856
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This genomic variant is located on Chromosome 17, within the MYO15A (myosin XVA) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 3
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GCCCCAGCTCTGTGACCTTGAGCAAATTGCTTAGCCAGTCTGAGCCTCAGTTCTCTCACTTGGAAAATGGGGTAATAATAGTGCCCAACTCATGGGGCAGGTGTGAAAAATGTAGGGTGGGTTTGATAAAGAGTAGCTCATCAATAGTGACATCACTATGGTCACCCTCATCACTATTATCTGAGGCACATTCCTGCCCTGGAGGTGTCTCAGGCTAGGATTCCATGCCTCTGTCCCCATCCGGGCCTTACTTTTCTCATCTGTAGAATGGGCACAGGACAATGTCCTTCACTGAGGGTGAGGCCAAGACCCAGGTTGGTCATGAGAAGCCATGGCGAATGCTCCCCTCCCCCAGGAGTAGGGAGAATGGTGGGGGCTGGAGGGGTGGGGACCATAGAAGTGAGGAGGATCCAGTCCCTCCTAGGATAGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCATGTCCCCACCCCCACACCCAGCCTGCCTTCAGGCCTGGGACCGTGTTGCCACGTCCTGGCTCCGCTTAGCTTTGGCCAGACAAAGACAAGGGTGGCCTGGACACCCTGTTCCTGGCCTGTTCCCACCTAGCTTGGCTCCGCCCTAAACCTAGCGCCTCATCCTGATCCTGTCCTCTGGCTCCCCACAGCCCCAGTGGCTAGACTCTGGCCCCGCTCCCAGTTCTAACCCTGTACCCCACCAGCTGTGGCCTTGCCCTGTACTTACCCCACTCTGGGCCCCACCCCATTCCCTGGCCCATTCTTTCCTGGCTTCTTGCCAGACCTGTTCCCCCAGTCCCACCTCCTGGTGTTCTCAGTTTCTCCCACCCCACCCATAAGGCCCCGGGGAAGAGCTTGGGGGACCAACTTTGGGTTCCTTGAAGGCTTGGGGAGGCCCTGCATCCCAGCTACACTACGGCCAGCAGATGGCCCTATGACAGAGCACAGGCCTGGTAACATCACCTCCCCTATCTGGCCCTCCGCTTCCTCCTGTCAACTGGGCAACCTCCTCATGAGGTCATAGCCAGAGTTCACAACCATGTATCTAACAGGCCACCCTGGGGCCAGGCACACAGTCAGTAACTGTGTGTTCCTTAGACTGAAGGGGAAAAAGCCAGTTATGGGATGGATCCCTTGGAAGATGCTGAGCCCCACCTGTTTTGAGAAGCATGCAAGCCAGGATGACAGAGGCCTTGCAGAGAGAACAGGGGTCCAGTTAGTCTTCAGATCCCCCTGGTCCGGAGATTTACTCCTGCTCTCTCTTCCTCCTCATTTCGGTCTCCCGGACCCTGCCTGTCTGTTTTCCCTGCCCCGACCCCTGCCCAGGTGGTGGCACACCTCTTCTCCAGCCATGCCCCACAGGCTGCCCCTCAGCGCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACAAGGCGCACACTGTGGCCGCCAAGTTCCAGCAGTCACTCCTGGATCTGGTGGAAAAGATGGAGAGGTGGGGTGGGGGGCAGGTGGGCGGAGCACCCAGCCTCATCCTTAACCCACCTCATGACCCTCAGAGGTTGAGCGCCTTCTTTTTCTGAGGCCTCATGCTGTCCTCTTCCTGCCACTGCCAGGTGCAACCCCTTGTTCATGCGTTGCCTGAAGCCCAACCACAAGAAGGTGAGTGAGAGCTGAGGCCTCTGAGAGAGCCAAATCCTCCTGCCCATGCTGTGTGACCTTGGGCAAGTGGCTTGGCCTCTCAGGACCTGCATCTGCCCAGCCTAGCACTGGGAATATTCACCATGATAATGCCTTTTGCACATGGCTGAGCCAATGTGCAGACTCCCTCTCTGGGCATCCCTACAGGAGCCAGGTCTCTTTGAGCCAGATGTGGTAATGGCACAATTACGCTATTCAGGGGTGCTGGAGACCGTGAGGATCCGCAAGGAGGGATTTCCAGTGCGCCTGCCTTTCCAGGGGTTCATCGACAGGTATCTTGGTTACGGTAGTTCCTGAGCTCTACAAATCCCTGCCCAACTCCCCATGGCCCCAGGAATACACAACCCAGGCAGTACAGGGCTTGCCATGCACAGTTGCTCAGGTTGTACACTTCACAAGGCTACCACATGCTAACTGTTAATGTGGTAGATACATTTATTGTTTTGCCTTTTTTTGTAGTTATATGTTGTATAACGTATAATATGTCTAATCAACGCTCCGCGTTATTAGAATGGTTTTAGTAGTTATAATGACAAGTTTCCAGCAGGTGGCAGTCAAGTGTCCTGTTGTACTGAAATCATCTATTATAACAATTGTCTGACACCCAGAAGTAAAGAGTCTTGAGGATGGAGTGCCTTTTTTCAGATTAGAATAAACTATTTGTGGAGCCACCACTGGGACCAGGCTTTTTGGACACCTGGCTGGGGGCAGTAACCCCATGGTCTAGCAGACACCTCGGGTAGGTCTCATAGCCCCAGACTAACTTTGGGCCCCCTACCAGGTACTGCTGTCTAGTGGCCCTCAAGCATGACCTGCCGGCTAATGGGGACATGTGTGTGTCAGTGCTGAGTCGCCTGTGCAAAGTCATGCCAAACATGTACCGTGTTGGGGTCAGCAAGGTGAGTCCTGCCCGACAGTCAGCCCTTGGAGACCCCAAGTTTGGGGGGGTCCACAACTACTGAGTCAGAAATGTCCAAGCTAGAGACTGCCATCCCAGGAGCAACCCAGATGAGCTTGGGATATGGAATGCTAACTACCTGATTCACCAGCATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTCCACGGACTTCTAGAGAGGGAGGGGCCCTTAGTCCAGCCTCCTGGCTCCTATCTGCCTCAGTGCCTTCCTCCTGTCCTTAGCTGTTCCTTAAGGAACACCTATACCAGCTGCTGGAGAGTATGCGAGAGCATGTCCTGAATCTGGCAGCCCTCACTCTGCAGCGCTGCCTCCGTGGCTTCTTCATTAAGCGGCGATTCCGCTCTCTGCGCCACAAGATCATCCTGCTGCAAAGCCGGGCCCGTGGCTACCTTGCCAGGTGAGGCACAGAAAAGGCAGGATTCCTAGGAGACCTATGGTCAGGCTCGGGAGAGGTCACGCCTGAACTTAGGTGGTGAGCTCCCTATCCCTGGAGGCATGCAAGCTGAGGGTGGAGGCCTCTGCAGGAGAATGATCAGATTCTCTGTGTCTCTGCTTTTGAATGCCCTTCCCAGCCAACCCCAGGCCCTTGTGACTGGTGGGTGGGAATCCATTCAGCCAAGAGGGGCCTTACCCTGCATTTCAGGGACCTGAGATTATAAGCTGTTGGGAAATAAATTATTCAGGCAGGTTTAATCCAGGCCTTGCTACTTAATATGCTGTGTGACCTTGGCAAAGTCACTGCCCCTCTCTGAGCTCCAGTTTCCCTTTGAGCCAAAGGACCCCAAAAGTGAGATGTGGGCACTGGCTCCCAGGCCAGGCTGGCAAGGGCCTCTCTACCTTTTGGTCACCCTGTCACCCTGTGGCCCCAATCCCTGACCTCCCCACTACCCCAACCCAGGCAACGCTATCAGCAGATGAGGAGGAGTCTGGTGAAGTTCCGGTCCCTGGTACACGCATACGTGAGCCGCCGACGCTATCTCAAGGTATAGGCCCTACCCTATCTGGGTCCAAGGGGACAGCAGAGAAGGGGAAAGGGCACTTAGCACCCAAGAGGAGACTACTGGCCTCAGGCAGTCTTGGGTTCAAATTCTGCCTCTGCCACCCACTAGCTCTTTAACTTTGGCCATTGTCTATCCTCGATTTTCCCATCTACCCCTTGGGATTGTGGAGAGGGTTAAATGAGATGTTGCATTGAAGGATTTGGCCTGGTGCTGGGTTCACAGTGGGGTCTTCGGGAATTGAGGGCCATTAGAATTTGGTGACCTGAATGTCACTGGGTATGGTTTTGCTCTTA
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GCCCCAGCTCTGTGACCTTGAGCAAATTGCTTAGCCAGTCTGAGCCTCAGTTCTCTCACTTGGAAAATGGGGTAATAATAGTGCCCAACTCATGGGGCAGGTGTGAAAAATGTAGGGTGGGTTTGATAAAGAGTAGCTCATCAATAGTGACATCACTATGGTCACCCTCATCACTATTATCTGAGGCACATTCCTGCCCTGGAGGTGTCTCAGGCTAGGATTCCATGCCTCTGTCCCCATCCGGGCCTTACTTTTCTCATCTGTAGAATGGGCACAGGACAATGTCCTTCACTGAGGGTGAGGCCAAGACCCAGGTTGGTCATGAGAAGCCATGGCGAATGCTCCCCTCCCCCAGGAGTAGGGAGAATGGTGGGGGCTGGAGGGGTGGGGACCATAGAAGTGAGGAGGATCCAGTCCCTCCTAGGATAGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCATGTCCCCACCCCCACACCCAGCCTGCCTTCAGGCCTGGGACCGTGTTGCCACGTCCTGGCTCCGCTTAGCTTTGGCCAGACAAAGACAAGGGTGGCCTGGACACCCTGTTCCTGGCCTGTTCCCACCTAGCTTGGCTCCGCCCTAAACCTAGCGCCTCATCCTGATCCTGTCCTCTGGCTCCCCACAGCCCCAGTGGCTAGACTCTGGCCCCGCTCCCAGTTCTAACCCTGTACCCCACCAGCTGTGGCCTTGCCCTGTACTTACCCCACTCTGGGCCCCACCCCATTCCCTGGCCCATTCTTTCCTGGCTTCTTGCCAGACCTGTTCCCCCAGTCCCACCTCCTGGTGTTCTCAGTTTCTCCCACCCCACCCATAAGGCCCCGGGGAAGAGCTTGGGGGACCAACTTTGGGTTCCTTGAAGGCTTGGGGAGGCCCTGCATCCCAGCTACACTACGGCCAGCAGATGGCCCTATGACAGAGCACAGGCCTGGTAACATCACCTCCCCTATCTGGCCCTCCGCTTCCTCCTGTCAACTGGGCAACCTCCTCATGAGGTCATAGCCAGAGTTCACAACCATGTATCTAACAGGCCACCCTGGGGCCAGGCACACAGTCAGTAACTGTGTGTTCCTTAGACTGAAGGGGAAAAAGCCAGTTATGGGATGGATCCCTTGGAAGATGCTGAGCCCCACCTGTTTTGAGAAGCATGCAAGCCAGGATGACAGAGGCCTTGCAGAGAGAACAGGGGTCCAGTTAGTCTTCAGATCCCCCTGGTCCGGAGATTTACTCCTGCTCTCTCTTCCTCCTCATTTCGGTCTCCCGGACCCTGCCTGTCTGTTTTCCCTGCCCCGACCCCTGCCCAGGTGGTGGCACACCTCTTCTCCAGCCATGCCCCACAGGCTGCCCCTCAGCGCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACAAGGCGCACACTGTGGCCGCCAAGTTCCAGCAGTCACTCCTGGATCTGGTGGAAAAGATGGAGAGGTGGGGTGGGGGGCAGGTGGGCGGAGCACCCAGCCTCATCCTTAACCCACCTCATGACCCTCAGAGGTTGAGCGCCTTCTTTTTCTGAGGCCTCATGCTGTCCTCTTCCTGCCACTGCCAGGTGCAACCCCTTGTTCATGCGTTGCCTGAAGCCCAACCACAAGAAGGTGAGTGAGAGCTGAGGCCTCTGAGAGAGCCAAATCCTCCTGCCCATGCTGTGTGACCTTGGGCAAGTGGCTTGGCCTCTCAGGACCTGCATCTGCCCAGCCTAGCACTGGGAATATTCACCATGATAATGCCTTTTGCACATGGCTGAGCCAATGTGCAGACTCCCTCTCTGGGCATCCCTACAGGAGCCAGGTCTCTTTGAGCCAGATGTGGTAATGGCACAATTACGCTATTCAGGGGTGCTGGAGACCGTGAGGATCCGCAAGGAGGTATTTCCAGTGCGCCTGCCTTTCCAGGGGTTCATCGACAGGTATCTTGGTTACGGTAGTTCCTGAGCTCTACAAATCCCTGCCCAACTCCCCATGGCCCCAGGAATACACAACCCAGGCAGTACAGGGCTTGCCATGCACAGTTGCTCAGGTTGTACACTTCACAAGGCTACCACATGCTAACTGTTAATGTGGTAGATACATTTATTGTTTTGCCTTTTTTTGTAGTTATATGTTGTATAACGTATAATATGTCTAATCAACGCTCCGCGTTATTAGAATGGTTTTAGTAGTTATAATGACAAGTTTCCAGCAGGTGGCAGTCAAGTGTCCTGTTGTACTGAAATCATCTATTATAACAATTGTCTGACACCCAGAAGTAAAGAGTCTTGAGGATGGAGTGCCTTTTTTCAGATTAGAATAAACTATTTGTGGAGCCACCACTGGGACCAGGCTTTTTGGACACCTGGCTGGGGGCAGTAACCCCATGGTCTAGCAGACACCTCGGGTAGGTCTCATAGCCCCAGACTAACTTTGGGCCCCCTACCAGGTACTGCTGTCTAGTGGCCCTCAAGCATGACCTGCCGGCTAATGGGGACATGTGTGTGTCAGTGCTGAGTCGCCTGTGCAAAGTCATGCCAAACATGTACCGTGTTGGGGTCAGCAAGGTGAGTCCTGCCCGACAGTCAGCCCTTGGAGACCCCAAGTTTGGGGGGGTCCACAACTACTGAGTCAGAAATGTCCAAGCTAGAGACTGCCATCCCAGGAGCAACCCAGATGAGCTTGGGATATGGAATGCTAACTACCTGATTCACCAGCATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTCCACGGACTTCTAGAGAGGGAGGGGCCCTTAGTCCAGCCTCCTGGCTCCTATCTGCCTCAGTGCCTTCCTCCTGTCCTTAGCTGTTCCTTAAGGAACACCTATACCAGCTGCTGGAGAGTATGCGAGAGCATGTCCTGAATCTGGCAGCCCTCACTCTGCAGCGCTGCCTCCGTGGCTTCTTCATTAAGCGGCGATTCCGCTCTCTGCGCCACAAGATCATCCTGCTGCAAAGCCGGGCCCGTGGCTACCTTGCCAGGTGAGGCACAGAAAAGGCAGGATTCCTAGGAGACCTATGGTCAGGCTCGGGAGAGGTCACGCCTGAACTTAGGTGGTGAGCTCCCTATCCCTGGAGGCATGCAAGCTGAGGGTGGAGGCCTCTGCAGGAGAATGATCAGATTCTCTGTGTCTCTGCTTTTGAATGCCCTTCCCAGCCAACCCCAGGCCCTTGTGACTGGTGGGTGGGAATCCATTCAGCCAAGAGGGGCCTTACCCTGCATTTCAGGGACCTGAGATTATAAGCTGTTGGGAAATAAATTATTCAGGCAGGTTTAATCCAGGCCTTGCTACTTAATATGCTGTGTGACCTTGGCAAAGTCACTGCCCCTCTCTGAGCTCCAGTTTCCCTTTGAGCCAAAGGACCCCAAAAGTGAGATGTGGGCACTGGCTCCCAGGCCAGGCTGGCAAGGGCCTCTCTACCTTTTGGTCACCCTGTCACCCTGTGGCCCCAATCCCTGACCTCCCCACTACCCCAACCCAGGCAACGCTATCAGCAGATGAGGAGGAGTCTGGTGAAGTTCCGGTCCCTGGTACACGCATACGTGAGCCGCCGACGCTATCTCAAGGTATAGGCCCTACCCTATCTGGGTCCAAGGGGACAGCAGAGAAGGGGAAAGGGCACTTAGCACCCAAGAGGAGACTACTGGCCTCAGGCAGTCTTGGGTTCAAATTCTGCCTCTGCCACCCACTAGCTCTTTAACTTTGGCCATTGTCTATCCTCGATTTTCCCATCTACCCCTTGGGATTGTGGAGAGGGTTAAATGAGATGTTGCATTGAAGGATTTGGCCTGGTGCTGGGTTCACAGTGGGGTCTTCGGGAATTGAGGGCCATTAGAATTTGGTGACCTGAATGTCACTGGGTATGGTTTTGCTCTTA
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Task1_train_23857
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This sequence variant lies in MYO15A (myosin XVA) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 3
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GGGCAACCTCCTCATGAGGTCATAGCCAGAGTTCACAACCATGTATCTAACAGGCCACCCTGGGGCCAGGCACACAGTCAGTAACTGTGTGTTCCTTAGACTGAAGGGGAAAAAGCCAGTTATGGGATGGATCCCTTGGAAGATGCTGAGCCCCACCTGTTTTGAGAAGCATGCAAGCCAGGATGACAGAGGCCTTGCAGAGAGAACAGGGGTCCAGTTAGTCTTCAGATCCCCCTGGTCCGGAGATTTACTCCTGCTCTCTCTTCCTCCTCATTTCGGTCTCCCGGACCCTGCCTGTCTGTTTTCCCTGCCCCGACCCCTGCCCAGGTGGTGGCACACCTCTTCTCCAGCCATGCCCCACAGGCTGCCCCTCAGCGCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACAAGGCGCACACTGTGGCCGCCAAGTTCCAGCAGTCACTCCTGGATCTGGTGGAAAAGATGGAGAGGTGGGGTGGGGGGCAGGTGGGCGGAGCACCCAGCCTCATCCTTAACCCACCTCATGACCCTCAGAGGTTGAGCGCCTTCTTTTTCTGAGGCCTCATGCTGTCCTCTTCCTGCCACTGCCAGGTGCAACCCCTTGTTCATGCGTTGCCTGAAGCCCAACCACAAGAAGGTGAGTGAGAGCTGAGGCCTCTGAGAGAGCCAAATCCTCCTGCCCATGCTGTGTGACCTTGGGCAAGTGGCTTGGCCTCTCAGGACCTGCATCTGCCCAGCCTAGCACTGGGAATATTCACCATGATAATGCCTTTTGCACATGGCTGAGCCAATGTGCAGACTCCCTCTCTGGGCATCCCTACAGGAGCCAGGTCTCTTTGAGCCAGATGTGGTAATGGCACAATTACGCTATTCAGGGGTGCTGGAGACCGTGAGGATCCGCAAGGAGGGATTTCCAGTGCGCCTGCCTTTCCAGGGGTTCATCGACAGGTATCTTGGTTACGGTAGTTCCTGAGCTCTACAAATCCCTGCCCAACTCCCCATGGCCCCAGGAATACACAACCCAGGCAGTACAGGGCTTGCCATGCACAGTTGCTCAGGTTGTACACTTCACAAGGCTACCACATGCTAACTGTTAATGTGGTAGATACATTTATTGTTTTGCCTTTTTTTGTAGTTATATGTTGTATAACGTATAATATGTCTAATCAACGCTCCGCGTTATTAGAATGGTTTTAGTAGTTATAATGACAAGTTTCCAGCAGGTGGCAGTCAAGTGTCCTGTTGTACTGAAATCATCTATTATAACAATTGTCTGACACCCAGAAGTAAAGAGTCTTGAGGATGGAGTGCCTTTTTTCAGATTAGAATAAACTATTTGTGGAGCCACCACTGGGACCAGGCTTTTTGGACACCTGGCTGGGGGCAGTAACCCCATGGTCTAGCAGACACCTCGGGTAGGTCTCATAGCCCCAGACTAACTTTGGGCCCCCTACCAGGTACTGCTGTCTAGTGGCCCTCAAGCATGACCTGCCGGCTAATGGGGACATGTGTGTGTCAGTGCTGAGTCGCCTGTGCAAAGTCATGCCAAACATGTACCGTGTTGGGGTCAGCAAGGTGAGTCCTGCCCGACAGTCAGCCCTTGGAGACCCCAAGTTTGGGGGGGTCCACAACTACTGAGTCAGAAATGTCCAAGCTAGAGACTGCCATCCCAGGAGCAACCCAGATGAGCTTGGGATATGGAATGCTAACTACCTGATTCACCAGCATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTCCACGGACTTCTAGAGAGGGAGGGGCCCTTAGTCCAGCCTCCTGGCTCCTATCTGCCTCAGTGCCTTCCTCCTGTCCTTAGCTGTTCCTTAAGGAACACCTATACCAGCTGCTGGAGAGTATGCGAGAGCATGTCCTGAATCTGGCAGCCCTCACTCTGCAGCGCTGCCTCCGTGGCTTCTTCATTAAGCGGCGATTCCGCTCTCTGCGCCACAAGATCATCCTGCTGCAAAGCCGGGCCCGTGGCTACCTTGCCAGGTGAGGCACAGAAAAGGCAGGATTCCTAGGAGACCTATGGTCAGGCTCGGGAGAGGTCACGCCTGAACTTAGGTGGTGAGCTCCCTATCCCTGGAGGCATGCAAGCTGAGGGTGGAGGCCTCTGCAGGAGAATGATCAGATTCTCTGTGTCTCTGCTTTTGAATGCCCTTCCCAGCCAACCCCAGGCCCTTGTGACTGGTGGGTGGGAATCCATTCAGCCAAGAGGGGCCTTACCCTGCATTTCAGGGACCTGAGATTATAAGCTGTTGGGAAATAAATTATTCAGGCAGGTTTAATCCAGGCCTTGCTACTTAATATGCTGTGTGACCTTGGCAAAGTCACTGCCCCTCTCTGAGCTCCAGTTTCCCTTTGAGCCAAAGGACCCCAAAAGTGAGATGTGGGCACTGGCTCCCAGGCCAGGCTGGCAAGGGCCTCTCTACCTTTTGGTCACCCTGTCACCCTGTGGCCCCAATCCCTGACCTCCCCACTACCCCAACCCAGGCAACGCTATCAGCAGATGAGGAGGAGTCTGGTGAAGTTCCGGTCCCTGGTACACGCATACGTGAGCCGCCGACGCTATCTCAAGGTATAGGCCCTACCCTATCTGGGTCCAAGGGGACAGCAGAGAAGGGGAAAGGGCACTTAGCACCCAAGAGGAGACTACTGGCCTCAGGCAGTCTTGGGTTCAAATTCTGCCTCTGCCACCCACTAGCTCTTTAACTTTGGCCATTGTCTATCCTCGATTTTCCCATCTACCCCTTGGGATTGTGGAGAGGGTTAAATGAGATGTTGCATTGAAGGATTTGGCCTGGTGCTGGGTTCACAGTGGGGTCTTCGGGAATTGAGGGCCATTAGAATTTGGTGACCTGAATGTCACTGGGTATGGTTTTGCTCTTACCTTCATGTCTTGACCCACTGTCATGCAAACTAGCCACCAGAAAGACAAATGCAGTTCCCAAAGCAATGAAGCAGTAGGTAGCCTTTACTGAAGGTGGCGCTACAGAGGAGGGCTTCCCATGACACAGTGCTCAGCCACCTCCCAGAAATCCTCCTTGTGTGTCTCTTTCCCCAGCGTTTTTCTCCCTCCGCTTGCCTCTGTTTCTCTCTTGCTCTCTCCTTTTCCCTCCCCTTTTCTCTGGCCAACCTCAGCCTCCCGCCCCACCTGTGGAGTGGGGCAGTCACCTCCACACAACAGGCAAGCTGCCCCCCTTGCTTGAGTGTGGCCGCCTTGCGTAAGCTGGCCTGGCCTGCCTGGGTGCCGGTCGTCACCTCTGCCTGCCACTCCCCAACCTGACATCTTCTCTTCTGAAGCTGAGGGCAGAGTGGAGGTGCCAGGTGGAGGGGGCGCTGCTGTGGGAGCAGGAGGTGGGTGTGGGTCTGGGTGGCAGCAGGGCCAAGGAGGGAGGCTGGCAGGTGGGGATGTGGCAGGCCTGTCCCTGTCCCATGCACTGTCCCTCTAGGAGCTGAGCAAGCGGGAGGTAGTCGCTGTGGGGCACCTGGAGGTACCGGCTGAGCTGGCTGGGCTCTTGCAAGCAGTGGCAGGTGGGTCAGCACCAGGCGGGGGGAGGGCCCAGGCAGATCAGAGCAGGCACCGCATTCCCTCCTCTTTCCACAGGCCTCGGGCTGGCCCAGGTGCCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCT
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GGGCAACCTCCTCATGAGGTCATAGCCAGAGTTCACAACCATGTATCTAACAGGCCACCCTGGGGCCAGGCACACAGTCAGTAACTGTGTGTTCCTTAGACTGAAGGGGAAAAAGCCAGTTATGGGATGGATCCCTTGGAAGATGCTGAGCCCCACCTGTTTTGAGAAGCATGCAAGCCAGGATGACAGAGGCCTTGCAGAGAGAACAGGGGTCCAGTTAGTCTTCAGATCCCCCTGGTCCGGAGATTTACTCCTGCTCTCTCTTCCTCCTCATTTCGGTCTCCCGGACCCTGCCTGTCTGTTTTCCCTGCCCCGACCCCTGCCCAGGTGGTGGCACACCTCTTCTCCAGCCATGCCCCACAGGCTGCCCCTCAGCGCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACAAGGCGCACACTGTGGCCGCCAAGTTCCAGCAGTCACTCCTGGATCTGGTGGAAAAGATGGAGAGGTGGGGTGGGGGGCAGGTGGGCGGAGCACCCAGCCTCATCCTTAACCCACCTCATGACCCTCAGAGGTTGAGCGCCTTCTTTTTCTGAGGCCTCATGCTGTCCTCTTCCTGCCACTGCCAGGTGCAACCCCTTGTTCATGCGTTGCCTGAAGCCCAACCACAAGAAGGTGAGTGAGAGCTGAGGCCTCTGAGAGAGCCAAATCCTCCTGCCCATGCTGTGTGACCTTGGGCAAGTGGCTTGGCCTCTCAGGACCTGCATCTGCCCAGCCTAGCACTGGGAATATTCACCATGATAATGCCTTTTGCACATGGCTGAGCCAATGTGCAGACTCCCTCTCTGGGCATCCCTACAGGAGCCAGGTCTCTTTGAGCCAGATGTGGTAATGGCACAATTACGCTATTCAGGGGTGCTGGAGACCGTGAGGATCCGCAAGGAGGGATTTCCAGTGCGCCTGCCTTTCCAGGGGTTCATCGACAGGTATCTTGGTTACGGTAGTTCCTGAGCTCTACAAATCCCTGCCCAACTCCCCATGGCCCCAGGAATACACAACCCAGGCAGTACAGGGCTTGCCATGCACAGTTGCTCAGGTTGTACACTTCACAAGGCTACCACATGCTAACTGTTAATGTGGTAGATACATTTATTGTTTTGCCTTTTTTTGTAGTTATATGTTGTATAACGTATAATATGTCTAATCAACGCTCCGCGTTATTAGAATGGTTTTAGTAGTTATAATGACAAGTTTCCAGCAGGTGGCAGTCAAGTGTCCTGTTGTACTGAAATCATCTATTATAACAATTGTCTGACACCCAGAAGTAAAGAGTCTTGAGGATGGAGTGCCTTTTTTCAGATTAGAATAAACTATTTGTGGAGCCACCACTGGGACCAGGCTTTTTGGACACCTGGCTGGGGGCAGTAACCCCATGGTCTAGCAGACACCTCGGGTAGGTCTCATAGCCCCAGACTAACTTTGGGCCCCCTACCAGGTACTGCTGTCTAGTGGCCCTCAAGCATGACCTGCCGGCTAATGGGGACATGTGTGTGTCAGTGCTGAGTCGCCTGTGCAAAGTCATGCCAAACATGTACCGTGTTGGGGTCAGCAAGGTGAGTCCTGCCCGACAGTCAGCCCTTGGAGACCCCAAGTTTGGGGGGGTCCACAACTACTGAGTCAGAAATGTCCAAGCTAGAGACTGCCATCCCAGGAGCAACCCAGATGAGCTTGGGATATGGAATGCTAACTACCTGATTCACCAGCATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTCCACGGACTTCTAGAGAGGGAGGGGCCCTTAGTCCAGCCTCCTGGCTCCTATCTGCCTCAGTGCCTTCCTCCTGTCCTTAGCTGTTCCTTAAGGAACACCTATACCAGCTGCTGGAGAGTATGCGAGAGCATGTCCTGAATCTGGCAGCCCTCACTCTGCAGCGCTGCCTCCGTGGCTTCTTCATTAAGCGGCGATTCCGCTCTCTGCGCCACAAGATCATCCTGCTGCAAAGCCGGGCCGGTGGCTACCTTGCCAGGTGAGGCACAGAAAAGGCAGGATTCCTAGGAGACCTATGGTCAGGCTCGGGAGAGGTCACGCCTGAACTTAGGTGGTGAGCTCCCTATCCCTGGAGGCATGCAAGCTGAGGGTGGAGGCCTCTGCAGGAGAATGATCAGATTCTCTGTGTCTCTGCTTTTGAATGCCCTTCCCAGCCAACCCCAGGCCCTTGTGACTGGTGGGTGGGAATCCATTCAGCCAAGAGGGGCCTTACCCTGCATTTCAGGGACCTGAGATTATAAGCTGTTGGGAAATAAATTATTCAGGCAGGTTTAATCCAGGCCTTGCTACTTAATATGCTGTGTGACCTTGGCAAAGTCACTGCCCCTCTCTGAGCTCCAGTTTCCCTTTGAGCCAAAGGACCCCAAAAGTGAGATGTGGGCACTGGCTCCCAGGCCAGGCTGGCAAGGGCCTCTCTACCTTTTGGTCACCCTGTCACCCTGTGGCCCCAATCCCTGACCTCCCCACTACCCCAACCCAGGCAACGCTATCAGCAGATGAGGAGGAGTCTGGTGAAGTTCCGGTCCCTGGTACACGCATACGTGAGCCGCCGACGCTATCTCAAGGTATAGGCCCTACCCTATCTGGGTCCAAGGGGACAGCAGAGAAGGGGAAAGGGCACTTAGCACCCAAGAGGAGACTACTGGCCTCAGGCAGTCTTGGGTTCAAATTCTGCCTCTGCCACCCACTAGCTCTTTAACTTTGGCCATTGTCTATCCTCGATTTTCCCATCTACCCCTTGGGATTGTGGAGAGGGTTAAATGAGATGTTGCATTGAAGGATTTGGCCTGGTGCTGGGTTCACAGTGGGGTCTTCGGGAATTGAGGGCCATTAGAATTTGGTGACCTGAATGTCACTGGGTATGGTTTTGCTCTTACCTTCATGTCTTGACCCACTGTCATGCAAACTAGCCACCAGAAAGACAAATGCAGTTCCCAAAGCAATGAAGCAGTAGGTAGCCTTTACTGAAGGTGGCGCTACAGAGGAGGGCTTCCCATGACACAGTGCTCAGCCACCTCCCAGAAATCCTCCTTGTGTGTCTCTTTCCCCAGCGTTTTTCTCCCTCCGCTTGCCTCTGTTTCTCTCTTGCTCTCTCCTTTTCCCTCCCCTTTTCTCTGGCCAACCTCAGCCTCCCGCCCCACCTGTGGAGTGGGGCAGTCACCTCCACACAACAGGCAAGCTGCCCCCCTTGCTTGAGTGTGGCCGCCTTGCGTAAGCTGGCCTGGCCTGCCTGGGTGCCGGTCGTCACCTCTGCCTGCCACTCCCCAACCTGACATCTTCTCTTCTGAAGCTGAGGGCAGAGTGGAGGTGCCAGGTGGAGGGGGCGCTGCTGTGGGAGCAGGAGGTGGGTGTGGGTCTGGGTGGCAGCAGGGCCAAGGAGGGAGGCTGGCAGGTGGGGATGTGGCAGGCCTGTCCCTGTCCCATGCACTGTCCCTCTAGGAGCTGAGCAAGCGGGAGGTAGTCGCTGTGGGGCACCTGGAGGTACCGGCTGAGCTGGCTGGGCTCTTGCAAGCAGTGGCAGGTGGGTCAGCACCAGGCGGGGGGAGGGCCCAGGCAGATCAGAGCAGGCACCGCATTCCCTCCTCTTTCCACAGGCCTCGGGCTGGCCCAGGTGCCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCT
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Task1_train_23858
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Here is a mutation in MYO15A (myosin XVA) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 3
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ATGACCTGCCGGCTAATGGGGACATGTGTGTGTCAGTGCTGAGTCGCCTGTGCAAAGTCATGCCAAACATGTACCGTGTTGGGGTCAGCAAGGTGAGTCCTGCCCGACAGTCAGCCCTTGGAGACCCCAAGTTTGGGGGGGTCCACAACTACTGAGTCAGAAATGTCCAAGCTAGAGACTGCCATCCCAGGAGCAACCCAGATGAGCTTGGGATATGGAATGCTAACTACCTGATTCACCAGCATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTCCACGGACTTCTAGAGAGGGAGGGGCCCTTAGTCCAGCCTCCTGGCTCCTATCTGCCTCAGTGCCTTCCTCCTGTCCTTAGCTGTTCCTTAAGGAACACCTATACCAGCTGCTGGAGAGTATGCGAGAGCATGTCCTGAATCTGGCAGCCCTCACTCTGCAGCGCTGCCTCCGTGGCTTCTTCATTAAGCGGCGATTCCGCTCTCTGCGCCACAAGATCATCCTGCTGCAAAGCCGGGCCCGTGGCTACCTTGCCAGGTGAGGCACAGAAAAGGCAGGATTCCTAGGAGACCTATGGTCAGGCTCGGGAGAGGTCACGCCTGAACTTAGGTGGTGAGCTCCCTATCCCTGGAGGCATGCAAGCTGAGGGTGGAGGCCTCTGCAGGAGAATGATCAGATTCTCTGTGTCTCTGCTTTTGAATGCCCTTCCCAGCCAACCCCAGGCCCTTGTGACTGGTGGGTGGGAATCCATTCAGCCAAGAGGGGCCTTACCCTGCATTTCAGGGACCTGAGATTATAAGCTGTTGGGAAATAAATTATTCAGGCAGGTTTAATCCAGGCCTTGCTACTTAATATGCTGTGTGACCTTGGCAAAGTCACTGCCCCTCTCTGAGCTCCAGTTTCCCTTTGAGCCAAAGGACCCCAAAAGTGAGATGTGGGCACTGGCTCCCAGGCCAGGCTGGCAAGGGCCTCTCTACCTTTTGGTCACCCTGTCACCCTGTGGCCCCAATCCCTGACCTCCCCACTACCCCAACCCAGGCAACGCTATCAGCAGATGAGGAGGAGTCTGGTGAAGTTCCGGTCCCTGGTACACGCATACGTGAGCCGCCGACGCTATCTCAAGGTATAGGCCCTACCCTATCTGGGTCCAAGGGGACAGCAGAGAAGGGGAAAGGGCACTTAGCACCCAAGAGGAGACTACTGGCCTCAGGCAGTCTTGGGTTCAAATTCTGCCTCTGCCACCCACTAGCTCTTTAACTTTGGCCATTGTCTATCCTCGATTTTCCCATCTACCCCTTGGGATTGTGGAGAGGGTTAAATGAGATGTTGCATTGAAGGATTTGGCCTGGTGCTGGGTTCACAGTGGGGTCTTCGGGAATTGAGGGCCATTAGAATTTGGTGACCTGAATGTCACTGGGTATGGTTTTGCTCTTACCTTCATGTCTTGACCCACTGTCATGCAAACTAGCCACCAGAAAGACAAATGCAGTTCCCAAAGCAATGAAGCAGTAGGTAGCCTTTACTGAAGGTGGCGCTACAGAGGAGGGCTTCCCATGACACAGTGCTCAGCCACCTCCCAGAAATCCTCCTTGTGTGTCTCTTTCCCCAGCGTTTTTCTCCCTCCGCTTGCCTCTGTTTCTCTCTTGCTCTCTCCTTTTCCCTCCCCTTTTCTCTGGCCAACCTCAGCCTCCCGCCCCACCTGTGGAGTGGGGCAGTCACCTCCACACAACAGGCAAGCTGCCCCCCTTGCTTGAGTGTGGCCGCCTTGCGTAAGCTGGCCTGGCCTGCCTGGGTGCCGGTCGTCACCTCTGCCTGCCACTCCCCAACCTGACATCTTCTCTTCTGAAGCTGAGGGCAGAGTGGAGGTGCCAGGTGGAGGGGGCGCTGCTGTGGGAGCAGGAGGTGGGTGTGGGTCTGGGTGGCAGCAGGGCCAAGGAGGGAGGCTGGCAGGTGGGGATGTGGCAGGCCTGTCCCTGTCCCATGCACTGTCCCTCTAGGAGCTGAGCAAGCGGGAGGTAGTCGCTGTGGGGCACCTGGAGGTACCGGCTGAGCTGGCTGGGCTCTTGCAAGCAGTGGCAGGTGGGTCAGCACCAGGCGGGGGGAGGGCCCAGGCAGATCAGAGCAGGCACCGCATTCCCTCCTCTTTCCACAGGCCTCGGGCTGGCCCAGGTGCCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCTCCCCTTGAGATGAAGGTTTATCCTGTCCCTACCACCGACTTGCTGAGGGCCACTGTGGTGGCCCCTCACCAGCCTCAGTTTCCCCATCCATACACTGAGGACCAAAGCCCCTGCCTCATAGGCCTTGGAGCCCCATGTGGCACAGAGCAGTGGGTCCAGATGTGCCTGTCAGTCCAGCTCTGTCTGCTCATGTGCCTGCCCTGTGTCTTAGGAACCTGCCTTTGGGATGCTGACAGTGCCCCTGAGGACACCCCTCACGCAGCTGCCAGCCGAGCACCATGCAGAAGCCGTGAGCATCTTCAAGCTGGTATGGGGTCTGCCCCAGCCCACCTTCTAATTCTTAGCCCCTGGCCCTGAAACTGGGCCATGAGGCTCCCAGTCTTCCCAGCCCTCCCCAAGCCCAACCCATGAGCCCCACACCTCTTCCCCAAAGGACAGACTTTTATGTCAGAGGGGGAAATCTGGCTTCCTCTCTGAGGACTGGTGGCTTTTCTTCTCCCAGCCATCTTCCTGGCAAAAAAAAAAAAAAAAAAATTCTGCCTTGGAGCCTCTCAAGGACACCAAGAAGAGACCCAGATCTCCTTAAGGACTTCTCAGTCTGAAGGGGGAGGCAGAGTTGACCCAGCCAGTGACCACCAGTATGGACAGAGGGAAGCACCAAGTCTGGGGAGTCTGATGGGGCCACTAATTCAGCCCTGGGCAGGGCCAGAGAGGGCTTCCTGGAGGAGAAGGCATTTGAGCTGGAGGGGAATTTGCCAGGCAGGGAGAGTGGAGAAAGTACACAGAGAAGAGGAAATTGGTGTGGTCAGAACAGAGTCAAGAGGGCAAGGGTGAGACTGGCCAGTGAGGCCTTGATTACAGTACCCAGAGCTTAGATTTCATCCCAAGGCACCTAGGGAGCCAAGGCAGGTGCTTCCATGGGAGGGTTGTGGTCATATCTGAATGTTAAAAAGAACCCTCTGCGGCCTAGATAGAGCAGGAGGTGGGGGCTGGCTGGAGGGCCAGGGGTGCAGGGAGGGGGCTAGGGCTGCATGGGGAGCTCTAGAAGGTTCATGAACAGGAAAGATGACACATACTTTGGATCTTTAGTTTTCCCATAGTTGAGGTAAACTGCCTGGTCATTCGGCATAGAATATGGCAGTTGTAGGCCAAGCACGGTGGCGCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCCCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCTGCATGTGCCTGTAATCCTAGCTACCTGAGGGGCTGAGGTGGGAGGATCACTTAGGCCCGGGGAAGTTGAGGCTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGTCTGGGTGACAGAGACTCCATCTCAAAAAAATATTCTATATATATAGCAGTTATATTGTAATATAAGGGACATTTATATGGGCAGGGG
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ATGACCTGCCGGCTAATGGGGACATGTGTGTGTCAGTGCTGAGTCGCCTGTGCAAAGTCATGCCAAACATGTACCGTGTTGGGGTCAGCAAGGTGAGTCCTGCCCGACAGTCAGCCCTTGGAGACCCCAAGTTTGGGGGGGTCCACAACTACTGAGTCAGAAATGTCCAAGCTAGAGACTGCCATCCCAGGAGCAACCCAGATGAGCTTGGGATATGGAATGCTAACTACCTGATTCACCAGCATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTCCACGGACTTCTAGAGAGGGAGGGGCCCTTAGTCCAGCCTCCTGGCTCCTATCTGCCTCAGTGCCTTCCTCCTGTCCTTAGCTGTTCCTTAAGGAACACCTATACCAGCTGCTGGAGAGTATGCGAGAGCATGTCCTGAATCTGGCAGCCCTCACTCTGCAGCGCTGCCTCCGTGGCTTCTTCATTAAGCGGCGATTCCGCTCTCTGCGCCACAAGATCATCCTGCTGCAAAGCCGGGCCCGTGGCTACCTTGCCAGGTGAGGCACAGAAAAGGCAGGATTCCTAGGAGACCTATGGTCAGGCTCGGGAGAGGTCACGCCTGAACTTAGGTGGTGAGCTCCCTATCCCTGGAGGCATGCAAGCTGAGGGTGGAGGCCTCTGCAGGAGAATGATCAGATTCTCTGTGTCTCTGCTTTTGAATGCCCTTCCCAGCCAACCCCAGGCCCTTGTGACTGGTGGGTGGGAATCCATTCAGCCAAGAGGGGCCTTACCCTGCATTTCAGGGACCTGAGATTATAAGCTGTTGGGAAATAAATTATTCAGGCAGGTTTAATCCAGGCCTTGCTACTTAATATGCTGTGTGACCTTGGCAAAGTCACTGCCCCTCTCTGAGCTCCAGTTTCCCTTTGAGCCAAAGGACCCCAAAAGTGAGATGTGGGCACTGGCTCCCAGGCCAGGCTGGCAAGGGCCTCTCTACCTTTTGGTCACCCTGTCACCCTGTGGCCCCAATCCCTGACCTCCCCACTACCCCAACCCAGGCAACGCTATCAGCAGATGAGGAGGAGTCTGGTGAAGTTCCGGTCCCTGGTACACGCATACGTGAGCCGCCGACGCTATCTCAAGGTATAGGCCCTACCCTATCTGGGTCCAAGGGGACAGCAGAGAAGGGGAAAGGGCACTTAGCACCCAAGAGGAGACTACTGGCCTCAGGCAGTCTTGGGTTCAAATTCTGCCTCTGCCACCCACTAGCTCTTTAACTTTGGCCATTGTCTATCCTCGATTTTCCCATCTACCCCTTGGGATTGTGGAGAGGGTTAAATGAGATGTTGCATTGAAGGATTTGGCCTGGTGCTGGGTTCACAGTGGGGTCTTCGGGAATTGAGGGCCATTAGAATTTGGTGACCTGAATGTCACTGGGTATGGTTTTGCTCTTACCTTCATGTCTTGACCCACTGTCATGCAAACTAGCCACCAGAAAGACAAATGCAGTTCCCAAAGCAATGAAGCAGTAGGTAGCCTTTACTGAAGGTGGCGCTACAGAGGAGGGCTTCCCATGACACAGTGCTCAGCCACCTCCCAGAAATCCTCCTTGTGTGTCTCTTTCCCCAGCGTTTTTCTCCCTCCGCTTGCCTCTGTTTCTCTCTTGCTCTCTCCTTTTCCCTCCCCTTTTCTCTGGCCAACCTCAGCCTCCCGCCCCACCTGTGGAGTGGGGCAGTCACCTCCACACAACAGGCAAGCTGCCCCCCTTGCTTGAGTGTGGCCGCCTTGCGTAAGCTGGCCTGGCCTGCCTGGGTGCCGGTCGTCACCTCTGCCTGCCACTCCCCAACCTGACATCTTCTCTTCTGAAGCTGAGGGCAGAGTGGAGGTGCCAGGTGGAGGGGGCGCTGCTGTGGGAGCAGGAGGTGGGTGTGGGTCTGGGTGGCAGCAGGGCCAAGGAGGGAGGCTGGCAGGTGGGGATGTGGCAGGCCTGTCCCTGTCCCATGCACTGTCCCTCTAGGAGCTGAGCAAGTGGGAGGTAGTCGCTGTGGGGCACCTGGAGGTACCGGCTGAGCTGGCTGGGCTCTTGCAAGCAGTGGCAGGTGGGTCAGCACCAGGCGGGGGGAGGGCCCAGGCAGATCAGAGCAGGCACCGCATTCCCTCCTCTTTCCACAGGCCTCGGGCTGGCCCAGGTGCCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCTCCCCTTGAGATGAAGGTTTATCCTGTCCCTACCACCGACTTGCTGAGGGCCACTGTGGTGGCCCCTCACCAGCCTCAGTTTCCCCATCCATACACTGAGGACCAAAGCCCCTGCCTCATAGGCCTTGGAGCCCCATGTGGCACAGAGCAGTGGGTCCAGATGTGCCTGTCAGTCCAGCTCTGTCTGCTCATGTGCCTGCCCTGTGTCTTAGGAACCTGCCTTTGGGATGCTGACAGTGCCCCTGAGGACACCCCTCACGCAGCTGCCAGCCGAGCACCATGCAGAAGCCGTGAGCATCTTCAAGCTGGTATGGGGTCTGCCCCAGCCCACCTTCTAATTCTTAGCCCCTGGCCCTGAAACTGGGCCATGAGGCTCCCAGTCTTCCCAGCCCTCCCCAAGCCCAACCCATGAGCCCCACACCTCTTCCCCAAAGGACAGACTTTTATGTCAGAGGGGGAAATCTGGCTTCCTCTCTGAGGACTGGTGGCTTTTCTTCTCCCAGCCATCTTCCTGGCAAAAAAAAAAAAAAAAAAATTCTGCCTTGGAGCCTCTCAAGGACACCAAGAAGAGACCCAGATCTCCTTAAGGACTTCTCAGTCTGAAGGGGGAGGCAGAGTTGACCCAGCCAGTGACCACCAGTATGGACAGAGGGAAGCACCAAGTCTGGGGAGTCTGATGGGGCCACTAATTCAGCCCTGGGCAGGGCCAGAGAGGGCTTCCTGGAGGAGAAGGCATTTGAGCTGGAGGGGAATTTGCCAGGCAGGGAGAGTGGAGAAAGTACACAGAGAAGAGGAAATTGGTGTGGTCAGAACAGAGTCAAGAGGGCAAGGGTGAGACTGGCCAGTGAGGCCTTGATTACAGTACCCAGAGCTTAGATTTCATCCCAAGGCACCTAGGGAGCCAAGGCAGGTGCTTCCATGGGAGGGTTGTGGTCATATCTGAATGTTAAAAAGAACCCTCTGCGGCCTAGATAGAGCAGGAGGTGGGGGCTGGCTGGAGGGCCAGGGGTGCAGGGAGGGGGCTAGGGCTGCATGGGGAGCTCTAGAAGGTTCATGAACAGGAAAGATGACACATACTTTGGATCTTTAGTTTTCCCATAGTTGAGGTAAACTGCCTGGTCATTCGGCATAGAATATGGCAGTTGTAGGCCAAGCACGGTGGCGCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCCCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCTGCATGTGCCTGTAATCCTAGCTACCTGAGGGGCTGAGGTGGGAGGATCACTTAGGCCCGGGGAAGTTGAGGCTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGTCTGGGTGACAGAGACTCCATCTCAAAAAAATATTCTATATATATAGCAGTTATATTGTAATATAAGGGACATTTATATGGGCAGGGG
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Task1_train_23859
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The gene MYO15A (myosin XVA) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 3
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CATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTCCACGGACTTCTAGAGAGGGAGGGGCCCTTAGTCCAGCCTCCTGGCTCCTATCTGCCTCAGTGCCTTCCTCCTGTCCTTAGCTGTTCCTTAAGGAACACCTATACCAGCTGCTGGAGAGTATGCGAGAGCATGTCCTGAATCTGGCAGCCCTCACTCTGCAGCGCTGCCTCCGTGGCTTCTTCATTAAGCGGCGATTCCGCTCTCTGCGCCACAAGATCATCCTGCTGCAAAGCCGGGCCCGTGGCTACCTTGCCAGGTGAGGCACAGAAAAGGCAGGATTCCTAGGAGACCTATGGTCAGGCTCGGGAGAGGTCACGCCTGAACTTAGGTGGTGAGCTCCCTATCCCTGGAGGCATGCAAGCTGAGGGTGGAGGCCTCTGCAGGAGAATGATCAGATTCTCTGTGTCTCTGCTTTTGAATGCCCTTCCCAGCCAACCCCAGGCCCTTGTGACTGGTGGGTGGGAATCCATTCAGCCAAGAGGGGCCTTACCCTGCATTTCAGGGACCTGAGATTATAAGCTGTTGGGAAATAAATTATTCAGGCAGGTTTAATCCAGGCCTTGCTACTTAATATGCTGTGTGACCTTGGCAAAGTCACTGCCCCTCTCTGAGCTCCAGTTTCCCTTTGAGCCAAAGGACCCCAAAAGTGAGATGTGGGCACTGGCTCCCAGGCCAGGCTGGCAAGGGCCTCTCTACCTTTTGGTCACCCTGTCACCCTGTGGCCCCAATCCCTGACCTCCCCACTACCCCAACCCAGGCAACGCTATCAGCAGATGAGGAGGAGTCTGGTGAAGTTCCGGTCCCTGGTACACGCATACGTGAGCCGCCGACGCTATCTCAAGGTATAGGCCCTACCCTATCTGGGTCCAAGGGGACAGCAGAGAAGGGGAAAGGGCACTTAGCACCCAAGAGGAGACTACTGGCCTCAGGCAGTCTTGGGTTCAAATTCTGCCTCTGCCACCCACTAGCTCTTTAACTTTGGCCATTGTCTATCCTCGATTTTCCCATCTACCCCTTGGGATTGTGGAGAGGGTTAAATGAGATGTTGCATTGAAGGATTTGGCCTGGTGCTGGGTTCACAGTGGGGTCTTCGGGAATTGAGGGCCATTAGAATTTGGTGACCTGAATGTCACTGGGTATGGTTTTGCTCTTACCTTCATGTCTTGACCCACTGTCATGCAAACTAGCCACCAGAAAGACAAATGCAGTTCCCAAAGCAATGAAGCAGTAGGTAGCCTTTACTGAAGGTGGCGCTACAGAGGAGGGCTTCCCATGACACAGTGCTCAGCCACCTCCCAGAAATCCTCCTTGTGTGTCTCTTTCCCCAGCGTTTTTCTCCCTCCGCTTGCCTCTGTTTCTCTCTTGCTCTCTCCTTTTCCCTCCCCTTTTCTCTGGCCAACCTCAGCCTCCCGCCCCACCTGTGGAGTGGGGCAGTCACCTCCACACAACAGGCAAGCTGCCCCCCTTGCTTGAGTGTGGCCGCCTTGCGTAAGCTGGCCTGGCCTGCCTGGGTGCCGGTCGTCACCTCTGCCTGCCACTCCCCAACCTGACATCTTCTCTTCTGAAGCTGAGGGCAGAGTGGAGGTGCCAGGTGGAGGGGGCGCTGCTGTGGGAGCAGGAGGTGGGTGTGGGTCTGGGTGGCAGCAGGGCCAAGGAGGGAGGCTGGCAGGTGGGGATGTGGCAGGCCTGTCCCTGTCCCATGCACTGTCCCTCTAGGAGCTGAGCAAGCGGGAGGTAGTCGCTGTGGGGCACCTGGAGGTACCGGCTGAGCTGGCTGGGCTCTTGCAAGCAGTGGCAGGTGGGTCAGCACCAGGCGGGGGGAGGGCCCAGGCAGATCAGAGCAGGCACCGCATTCCCTCCTCTTTCCACAGGCCTCGGGCTGGCCCAGGTGCCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCTCCCCTTGAGATGAAGGTTTATCCTGTCCCTACCACCGACTTGCTGAGGGCCACTGTGGTGGCCCCTCACCAGCCTCAGTTTCCCCATCCATACACTGAGGACCAAAGCCCCTGCCTCATAGGCCTTGGAGCCCCATGTGGCACAGAGCAGTGGGTCCAGATGTGCCTGTCAGTCCAGCTCTGTCTGCTCATGTGCCTGCCCTGTGTCTTAGGAACCTGCCTTTGGGATGCTGACAGTGCCCCTGAGGACACCCCTCACGCAGCTGCCAGCCGAGCACCATGCAGAAGCCGTGAGCATCTTCAAGCTGGTATGGGGTCTGCCCCAGCCCACCTTCTAATTCTTAGCCCCTGGCCCTGAAACTGGGCCATGAGGCTCCCAGTCTTCCCAGCCCTCCCCAAGCCCAACCCATGAGCCCCACACCTCTTCCCCAAAGGACAGACTTTTATGTCAGAGGGGGAAATCTGGCTTCCTCTCTGAGGACTGGTGGCTTTTCTTCTCCCAGCCATCTTCCTGGCAAAAAAAAAAAAAAAAAAATTCTGCCTTGGAGCCTCTCAAGGACACCAAGAAGAGACCCAGATCTCCTTAAGGACTTCTCAGTCTGAAGGGGGAGGCAGAGTTGACCCAGCCAGTGACCACCAGTATGGACAGAGGGAAGCACCAAGTCTGGGGAGTCTGATGGGGCCACTAATTCAGCCCTGGGCAGGGCCAGAGAGGGCTTCCTGGAGGAGAAGGCATTTGAGCTGGAGGGGAATTTGCCAGGCAGGGAGAGTGGAGAAAGTACACAGAGAAGAGGAAATTGGTGTGGTCAGAACAGAGTCAAGAGGGCAAGGGTGAGACTGGCCAGTGAGGCCTTGATTACAGTACCCAGAGCTTAGATTTCATCCCAAGGCACCTAGGGAGCCAAGGCAGGTGCTTCCATGGGAGGGTTGTGGTCATATCTGAATGTTAAAAAGAACCCTCTGCGGCCTAGATAGAGCAGGAGGTGGGGGCTGGCTGGAGGGCCAGGGGTGCAGGGAGGGGGCTAGGGCTGCATGGGGAGCTCTAGAAGGTTCATGAACAGGAAAGATGACACATACTTTGGATCTTTAGTTTTCCCATAGTTGAGGTAAACTGCCTGGTCATTCGGCATAGAATATGGCAGTTGTAGGCCAAGCACGGTGGCGCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCCCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCTGCATGTGCCTGTAATCCTAGCTACCTGAGGGGCTGAGGTGGGAGGATCACTTAGGCCCGGGGAAGTTGAGGCTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGTCTGGGTGACAGAGACTCCATCTCAAAAAAATATTCTATATATATAGCAGTTATATTGTAATATAAGGGACATTTATATGGGCAGGGGCACACATGGGAGGGACATGAGAGGGATGCATGTTGTGGGGTGGGGACTGGAAGGAACAACTTTCTGAGATGCCCAGGAGACTCTGTTCGTGGCCCAGATCCTGCGCTTCATGGGCGACCCCCACCTGCATGGTGCCCGGGAGAACATCTTCGGGAACTACATCGTGCAGAAGGGGCTGGCGGTGCCTGAGCTGCGGGATGAGATCCTGGCACAGCTGGCCAATCAGGTGTGGCACAATCACA
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CATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTCCACGGACTTCTAGAGAGGGAGGGGCCCTTAGTCCAGCCTCCTGGCTCCTATCTGCCTCAGTGCCTTCCTCCTGTCCTTAGCTGTTCCTTAAGGAACACCTATACCAGCTGCTGGAGAGTATGCGAGAGCATGTCCTGAATCTGGCAGCCCTCACTCTGCAGCGCTGCCTCCGTGGCTTCTTCATTAAGCGGCGATTCCGCTCTCTGCGCCACAAGATCATCCTGCTGCAAAGCCGGGCCCGTGGCTACCTTGCCAGGTGAGGCACAGAAAAGGCAGGATTCCTAGGAGACCTATGGTCAGGCTCGGGAGAGGTCACGCCTGAACTTAGGTGGTGAGCTCCCTATCCCTGGAGGCATGCAAGCTGAGGGTGGAGGCCTCTGCAGGAGAATGATCAGATTCTCTGTGTCTCTGCTTTTGAATGCCCTTCCCAGCCAACCCCAGGCCCTTGTGACTGGTGGGTGGGAATCCATTCAGCCAAGAGGGGCCTTACCCTGCATTTCAGGGACCTGAGATTATAAGCTGTTGGGAAATAAATTATTCAGGCAGGTTTAATCCAGGCCTTGCTACTTAATATGCTGTGTGACCTTGGCAAAGTCACTGCCCCTCTCTGAGCTCCAGTTTCCCTTTGAGCCAAAGGACCCCAAAAGTGAGATGTGGGCACTGGCTCCCAGGCCAGGCTGGCAAGGGCCTCTCTACCTTTTGGTCACCCTGTCACCCTGTGGCCCCAATCCCTGACCTCCCCACTACCCCAACCCAGGCAACGCTATCAGCAGATGAGGAGGAGTCTGGTGAAGTTCCGGTCCCTGGTACACGCATACGTGAGCCGCCGACGCTATCTCAAGGTATAGGCCCTACCCTATCTGGGTCCAAGGGGACAGCAGAGAAGGGGAAAGGGCACTTAGCACCCAAGAGGAGACTACTGGCCTCAGGCAGTCTTGGGTTCAAATTCTGCCTCTGCCACCCACTAGCTCTTTAACTTTGGCCATTGTCTATCCTCGATTTTCCCATCTACCCCTTGGGATTGTGGAGAGGGTTAAATGAGATGTTGCATTGAAGGATTTGGCCTGGTGCTGGGTTCACAGTGGGGTCTTCGGGAATTGAGGGCCATTAGAATTTGGTGACCTGAATGTCACTGGGTATGGTTTTGCTCTTACCTTCATGTCTTGACCCACTGTCATGCAAACTAGCCACCAGAAAGACAAATGCAGTTCCCAAAGCAATGAAGCAGTAGGTAGCCTTTACTGAAGGTGGCGCTACAGAGGAGGGCTTCCCATGACACAGTGCTCAGCCACCTCCCAGAAATCCTCCTTGTGTGTCTCTTTCCCCAGCGTTTTTCTCCCTCCGCTTGCCTCTGTTTCTCTCTTGCTCTCTCCTTTTCCCTCCCCTTTTCTCTGGCCAACCTCAGCCTCCCGCCCCACCTGTGGAGTGGGGCAGTCACCTCCACACAACAGGCAAGCTGCCCCCCTTGCTTGAGTGTGGCCGCCTTGCGTAAGCTGGCCTGGCCTGCCTGGGTGCCGGTCGTCACCTCTGCCTGCCACTCCCCAACCTGACATCTTCTCTTCTGAAGCTGAGGGCAGAGTGGAGGTGCCAGGTGGAGGGGGCGCTGCTGTGGGAGCAGGAGGTGGGTGTGGGTCTGGGTGGCAGCAGGGCCAAGGAGGGAGGCTGGCAGGTGGGGATGTGGCAGGCCTGTCCCTGTCCCATGCACTGTCCCTCTAGGAGCTGAGCAAGCGGGAGGTAGTCGCTGTGGGGCACCTGGAGGTACCGGCTGAGCTGGCTGGGCTCTTGCAAGCAGTGGCAGGTGGGTCAGCACCAGGCGGGGGGAGGGCCCAGGCAGATCAGAGCAGGCACCGCATTCCCTCCTCTTTCCACAGGCCTCGGGCTGGCCCAGGTGCCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCATATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCTCCCCTTGAGATGAAGGTTTATCCTGTCCCTACCACCGACTTGCTGAGGGCCACTGTGGTGGCCCCTCACCAGCCTCAGTTTCCCCATCCATACACTGAGGACCAAAGCCCCTGCCTCATAGGCCTTGGAGCCCCATGTGGCACAGAGCAGTGGGTCCAGATGTGCCTGTCAGTCCAGCTCTGTCTGCTCATGTGCCTGCCCTGTGTCTTAGGAACCTGCCTTTGGGATGCTGACAGTGCCCCTGAGGACACCCCTCACGCAGCTGCCAGCCGAGCACCATGCAGAAGCCGTGAGCATCTTCAAGCTGGTATGGGGTCTGCCCCAGCCCACCTTCTAATTCTTAGCCCCTGGCCCTGAAACTGGGCCATGAGGCTCCCAGTCTTCCCAGCCCTCCCCAAGCCCAACCCATGAGCCCCACACCTCTTCCCCAAAGGACAGACTTTTATGTCAGAGGGGGAAATCTGGCTTCCTCTCTGAGGACTGGTGGCTTTTCTTCTCCCAGCCATCTTCCTGGCAAAAAAAAAAAAAAAAAAATTCTGCCTTGGAGCCTCTCAAGGACACCAAGAAGAGACCCAGATCTCCTTAAGGACTTCTCAGTCTGAAGGGGGAGGCAGAGTTGACCCAGCCAGTGACCACCAGTATGGACAGAGGGAAGCACCAAGTCTGGGGAGTCTGATGGGGCCACTAATTCAGCCCTGGGCAGGGCCAGAGAGGGCTTCCTGGAGGAGAAGGCATTTGAGCTGGAGGGGAATTTGCCAGGCAGGGAGAGTGGAGAAAGTACACAGAGAAGAGGAAATTGGTGTGGTCAGAACAGAGTCAAGAGGGCAAGGGTGAGACTGGCCAGTGAGGCCTTGATTACAGTACCCAGAGCTTAGATTTCATCCCAAGGCACCTAGGGAGCCAAGGCAGGTGCTTCCATGGGAGGGTTGTGGTCATATCTGAATGTTAAAAAGAACCCTCTGCGGCCTAGATAGAGCAGGAGGTGGGGGCTGGCTGGAGGGCCAGGGGTGCAGGGAGGGGGCTAGGGCTGCATGGGGAGCTCTAGAAGGTTCATGAACAGGAAAGATGACACATACTTTGGATCTTTAGTTTTCCCATAGTTGAGGTAAACTGCCTGGTCATTCGGCATAGAATATGGCAGTTGTAGGCCAAGCACGGTGGCGCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCCCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCTGCATGTGCCTGTAATCCTAGCTACCTGAGGGGCTGAGGTGGGAGGATCACTTAGGCCCGGGGAAGTTGAGGCTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGTCTGGGTGACAGAGACTCCATCTCAAAAAAATATTCTATATATATAGCAGTTATATTGTAATATAAGGGACATTTATATGGGCAGGGGCACACATGGGAGGGACATGAGAGGGATGCATGTTGTGGGGTGGGGACTGGAAGGAACAACTTTCTGAGATGCCCAGGAGACTCTGTTCGTGGCCCAGATCCTGCGCTTCATGGGCGACCCCCACCTGCATGGTGCCCGGGAGAACATCTTCGGGAACTACATCGTGCAGAAGGGGCTGGCGGTGCCTGAGCTGCGGGATGAGATCCTGGCACAGCTGGCCAATCAGGTGTGGCACAATCACA
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Task1_train_23860
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Consider this mutation in MYO15A (myosin XVA) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 3
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GCCCAGGTGCCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCTCCCCTTGAGATGAAGGTTTATCCTGTCCCTACCACCGACTTGCTGAGGGCCACTGTGGTGGCCCCTCACCAGCCTCAGTTTCCCCATCCATACACTGAGGACCAAAGCCCCTGCCTCATAGGCCTTGGAGCCCCATGTGGCACAGAGCAGTGGGTCCAGATGTGCCTGTCAGTCCAGCTCTGTCTGCTCATGTGCCTGCCCTGTGTCTTAGGAACCTGCCTTTGGGATGCTGACAGTGCCCCTGAGGACACCCCTCACGCAGCTGCCAGCCGAGCACCATGCAGAAGCCGTGAGCATCTTCAAGCTGGTATGGGGTCTGCCCCAGCCCACCTTCTAATTCTTAGCCCCTGGCCCTGAAACTGGGCCATGAGGCTCCCAGTCTTCCCAGCCCTCCCCAAGCCCAACCCATGAGCCCCACACCTCTTCCCCAAAGGACAGACTTTTATGTCAGAGGGGGAAATCTGGCTTCCTCTCTGAGGACTGGTGGCTTTTCTTCTCCCAGCCATCTTCCTGGCAAAAAAAAAAAAAAAAAAATTCTGCCTTGGAGCCTCTCAAGGACACCAAGAAGAGACCCAGATCTCCTTAAGGACTTCTCAGTCTGAAGGGGGAGGCAGAGTTGACCCAGCCAGTGACCACCAGTATGGACAGAGGGAAGCACCAAGTCTGGGGAGTCTGATGGGGCCACTAATTCAGCCCTGGGCAGGGCCAGAGAGGGCTTCCTGGAGGAGAAGGCATTTGAGCTGGAGGGGAATTTGCCAGGCAGGGAGAGTGGAGAAAGTACACAGAGAAGAGGAAATTGGTGTGGTCAGAACAGAGTCAAGAGGGCAAGGGTGAGACTGGCCAGTGAGGCCTTGATTACAGTACCCAGAGCTTAGATTTCATCCCAAGGCACCTAGGGAGCCAAGGCAGGTGCTTCCATGGGAGGGTTGTGGTCATATCTGAATGTTAAAAAGAACCCTCTGCGGCCTAGATAGAGCAGGAGGTGGGGGCTGGCTGGAGGGCCAGGGGTGCAGGGAGGGGGCTAGGGCTGCATGGGGAGCTCTAGAAGGTTCATGAACAGGAAAGATGACACATACTTTGGATCTTTAGTTTTCCCATAGTTGAGGTAAACTGCCTGGTCATTCGGCATAGAATATGGCAGTTGTAGGCCAAGCACGGTGGCGCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCCCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCTGCATGTGCCTGTAATCCTAGCTACCTGAGGGGCTGAGGTGGGAGGATCACTTAGGCCCGGGGAAGTTGAGGCTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGTCTGGGTGACAGAGACTCCATCTCAAAAAAATATTCTATATATATAGCAGTTATATTGTAATATAAGGGACATTTATATGGGCAGGGGCACACATGGGAGGGACATGAGAGGGATGCATGTTGTGGGGTGGGGACTGGAAGGAACAACTTTCTGAGATGCCCAGGAGACTCTGTTCGTGGCCCAGATCCTGCGCTTCATGGGCGACCCCCACCTGCATGGTGCCCGGGAGAACATCTTCGGGAACTACATCGTGCAGAAGGGGCTGGCGGTGCCTGAGCTGCGGGATGAGATCCTGGCACAGCTGGCCAATCAGGTGTGGCACAATCACAATGCCCACAATGCTGAGCGGGGCTGGCTGCTGCTGGCCGCCTGCCTCAGTGGCTTTGCACCTTCCCCGTGCTTCAACAAGTACCTTCTCAAGTGAGTGGGACTGGATAGGGGCTGGGACACGAGGGACGGTGGCACCAGCAGTGGAGCCCAAGGCAGGGTCTTAAAGGTCAGGCCAGGAGTCAGATCTCTATGCTGGGAAGCTCAGGCATGGAGGCTGGCCAGGGCTGCTCTGCATTTCTACTGGGCTCAGAGCAAGAAAGGAGGGCAGGCCTTCACTGCAGGGGCTAGGAGTTAGGTCAGACTGGATGAGGGACTTCCAGAACTCAGAGTGGGACAAGACCAGCATGTGGAGAATTTGGAAAAGAGCATTGACCTCTCACAGCATGAGAGTTTAATGGGGTGGTTAGGAGCATGGATACGGGACTCAGACAATCAGGGTTCAAATCCCAGCTCAGCCATATATGAGCTGTGTGACCTTGGGTAAGTTACTTAACCTCTCTGGGCTTTAGTTTCCTTACATATCAAATGGGGGTTATTCTTTTATAGTTTATAAGTGTGATGATTGAGTTTTCATGCTCAGGCATGAGATGTGTCACCCTCAAACCTTGCTAAAACATCAGCACAAGACCAGACGCAGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCGCTTGAGCCCAGGAGTTGAAGACCAGCCTGGACAATGTATTGAGACCTTGTCTCTGCAAAAAATTTAAAAATTAGCTAGGCATAGTGGCACACGCATGTAGTCCCAGCTACTCAAGAGGTTGAGGCAAGAGCATTGCTTGAACCCAGGAGGTTGAGGATGCAGTGAGCCAAGATCATGCCACTTACACTTCAGCCTGGGCAACAGAGCAAGACCCTGTCTGATGTTAAAAAAAAATGGCATAATGATAATACCTACTTCATAGGCTCTTGTGTGGATAAAATATATAAACACACGTAAAGTGCTTAGAACAGAGAGGGGCACATGGTAGGTGCTATGTGGGTATAACCATCACAATGATGTCACCCTGCTGGGTGAGAAGGATGATTTGCAAGGAAATCGCTCAGGCAGGCCCTGGGTGTGAATCTCAGCTCTGATACTTACCTGCTGTGTGGCCTGAGACAAGTCACTGTCCCTCTCTGAACCTGTTTCTTCCCTATAATTTGGGGATGGCAACAGAACCCACCTAACAGGGTGGCTGTGAGTTAGAGTATACAGAATCTTGCTTAGGCCAGCATGCAGCAAATGGACATCACCTGGCCAGTCTTGTGACTCTGTGGCAGCTGACAGCAGGGTAAGGCCGTTGCTGGTCTGCCTGCCTGGGGCTTTCCTGAGGGCATGGTGCTAGGTTCCCTCTCTAGCTACTGTGGGCCTGCACCAGTGCTGCTCTTGGCCAGGCTTAGCTGCAGGAGATGTAGGATGTGGGGGTGAGGGAAGCATGAGGAATGGCTGGTAGGGATTGGGCTCATTGGGCCTGGGTTGAGTTGAACCCTCAGCTGTCCCTTTTATAGGTGAAAACTTGGAGGAGAGGCTCAGAGAGGGCAGATAATCATCCAAGGTTGCCCTGTGAGAGAATGGAGACAGAGTTCTGGTTGTTGCCCACACCCAGCTGCAGACCCCAGCCTGTCAATGACATTTTGTTCCAACAAGCTGGTACCTCTTTGGCCTATCCTTGGACCTCTGGGCTGGCCTGAGATACTTCTGGACTAGCCTGGGACCCTTTCAGTTTAGCCGTGGGACTCTAAACTACCCTGAGATCTTTTGTAGGCTAGCCTGGGACCCCTTAAGTGCAGTCCCAGAGCACTGGACTCTAGCCTGGGACCCTTGTGAACCAGCCTGGAGCCTTTTTAGCCTCACCTTGGAGCTCTGGAGTAGCCTGGGCCTTTCTCAGACTAGCCTCAGAATTTCCTACCCCCACCCCGCAGCCCTCAGCC
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GCCCAGGTGCCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCTCCCCTTGAGATGAAGGTTTATCCTGTCCCTACCACCGACTTGCTGAGGGCCACTGTGGTGGCCCCTCACCAGCCTCAGTTTCCCCATCCATACACTGAGGACCAAAGCCCCTGCCTCATAGGCCTTGGAGCCCCATGTGGCACAGAGCAGTGGGTCCAGATGTGCCTGTCAGTCCAGCTCTGTCTGCTCATGTGCCTGCCCTGTGTCTTAGGAACCTGCCTTTGGGATGCTGACAGTGCCCCTGAGGACACCCCTCACGCAGCTGCCAGCCGAGCACCATGCAGAAGCCGTGAGCATCTTCAAGCTGGTATGGGGTCTGCCCCAGCCCACCTTCTAATTCTTAGCCCCTGGCCCTGAAACTGGGCCATGAGGCTCCCAGTCTTCCCAGCCCTCCCCAAGCCCAACCCATGAGCCCCACACCTCTTCCCCAAAGGACAGACTTTTATGTCAGAGGGGGAAATCTGGCTTCCTCTCTGAGGACTGGTGGCTTTTCTTCTCCCAGCCATCTTCCTGGCAAAAAAAAAAAAAAAAAAATTCTGCCTTGGAGCCTCTCAAGGACACCAAGAAGAGACCCAGATCTCCTTAAGGACTTCTCAGTCTGAAGGGGGAGGCAGAGTTGACCCAGCCAGTGACCACCAGTATGGACAGAGGGAAGCACCAAGTCTGGGGAGTCTGATGGGGCCACTAATTCAGCCCTGGGCAGGGCCAGAGAGGGCTTCCTGGAGGAGAAGGCATTTGAGCTGGAGGGGAATTTGCCAGGCAGGGAGAGTGGAGAAAGTACACAGAGAAGAGGAAATTGGTGTGGTCAGAACAGAGTCAAGAGGGCAAGGGTGAGACTGGCCAGTGAGGCCTTGATTACAGTACCCAGAGCTTAGATTTCATCCCAAGGCACCTAGGGAGCCAAGGCAGGTGCTTCCATGGGAGGGTTGTGGTCATATCTGAATGTTAAAAAGAACCCTCTGCGGCCTAGATAGAGCAGGAGGTGGGGGCTGGCTGGAGGGCCAGGGGTGCAGGGAGGGGGCTAGGGCTGCATGGGGAGCTCTAGAAGGTTCATGAACAGGAAAGATGACACATACTTTGGATCTTTAGTTTTCCCATAGTTGAGGTAAACTGCCTGGTCATTCGGCATAGAATATGGCAGTTGTAGGCCAAGCACGGTGGCGCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCCCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCTGCATGTGCCTGTAATCCTAGCTACCTGAGGGGCTGAGGTGGGAGGATCACTTAGGCCCGGGGAAGTTGAGGCTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGTCTGGGTGACAGAGACTCCATCTCAAAAAAATATTCTATATATATAGCAGTTATATTGTAATATAAGGGACATTTATATGGGCAGGGGCACACATGGGAGGGACATGAGAGGGATGCATGTTGTGGGGTGGGGACTGGAAGGAACAACTTTCTGAGATGCCCAGGAGACTCTGTTCGTGGCCCAGATCCTGCGCTTCATGGGCGACCCCCACCTGCATGGTGCCCGGGAGAACATCTTCGGGTACTACATCGTGCAGAAGGGGCTGGCGGTGCCTGAGCTGCGGGATGAGATCCTGGCACAGCTGGCCAATCAGGTGTGGCACAATCACAATGCCCACAATGCTGAGCGGGGCTGGCTGCTGCTGGCCGCCTGCCTCAGTGGCTTTGCACCTTCCCCGTGCTTCAACAAGTACCTTCTCAAGTGAGTGGGACTGGATAGGGGCTGGGACACGAGGGACGGTGGCACCAGCAGTGGAGCCCAAGGCAGGGTCTTAAAGGTCAGGCCAGGAGTCAGATCTCTATGCTGGGAAGCTCAGGCATGGAGGCTGGCCAGGGCTGCTCTGCATTTCTACTGGGCTCAGAGCAAGAAAGGAGGGCAGGCCTTCACTGCAGGGGCTAGGAGTTAGGTCAGACTGGATGAGGGACTTCCAGAACTCAGAGTGGGACAAGACCAGCATGTGGAGAATTTGGAAAAGAGCATTGACCTCTCACAGCATGAGAGTTTAATGGGGTGGTTAGGAGCATGGATACGGGACTCAGACAATCAGGGTTCAAATCCCAGCTCAGCCATATATGAGCTGTGTGACCTTGGGTAAGTTACTTAACCTCTCTGGGCTTTAGTTTCCTTACATATCAAATGGGGGTTATTCTTTTATAGTTTATAAGTGTGATGATTGAGTTTTCATGCTCAGGCATGAGATGTGTCACCCTCAAACCTTGCTAAAACATCAGCACAAGACCAGACGCAGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCGCTTGAGCCCAGGAGTTGAAGACCAGCCTGGACAATGTATTGAGACCTTGTCTCTGCAAAAAATTTAAAAATTAGCTAGGCATAGTGGCACACGCATGTAGTCCCAGCTACTCAAGAGGTTGAGGCAAGAGCATTGCTTGAACCCAGGAGGTTGAGGATGCAGTGAGCCAAGATCATGCCACTTACACTTCAGCCTGGGCAACAGAGCAAGACCCTGTCTGATGTTAAAAAAAAATGGCATAATGATAATACCTACTTCATAGGCTCTTGTGTGGATAAAATATATAAACACACGTAAAGTGCTTAGAACAGAGAGGGGCACATGGTAGGTGCTATGTGGGTATAACCATCACAATGATGTCACCCTGCTGGGTGAGAAGGATGATTTGCAAGGAAATCGCTCAGGCAGGCCCTGGGTGTGAATCTCAGCTCTGATACTTACCTGCTGTGTGGCCTGAGACAAGTCACTGTCCCTCTCTGAACCTGTTTCTTCCCTATAATTTGGGGATGGCAACAGAACCCACCTAACAGGGTGGCTGTGAGTTAGAGTATACAGAATCTTGCTTAGGCCAGCATGCAGCAAATGGACATCACCTGGCCAGTCTTGTGACTCTGTGGCAGCTGACAGCAGGGTAAGGCCGTTGCTGGTCTGCCTGCCTGGGGCTTTCCTGAGGGCATGGTGCTAGGTTCCCTCTCTAGCTACTGTGGGCCTGCACCAGTGCTGCTCTTGGCCAGGCTTAGCTGCAGGAGATGTAGGATGTGGGGGTGAGGGAAGCATGAGGAATGGCTGGTAGGGATTGGGCTCATTGGGCCTGGGTTGAGTTGAACCCTCAGCTGTCCCTTTTATAGGTGAAAACTTGGAGGAGAGGCTCAGAGAGGGCAGATAATCATCCAAGGTTGCCCTGTGAGAGAATGGAGACAGAGTTCTGGTTGTTGCCCACACCCAGCTGCAGACCCCAGCCTGTCAATGACATTTTGTTCCAACAAGCTGGTACCTCTTTGGCCTATCCTTGGACCTCTGGGCTGGCCTGAGATACTTCTGGACTAGCCTGGGACCCTTTCAGTTTAGCCGTGGGACTCTAAACTACCCTGAGATCTTTTGTAGGCTAGCCTGGGACCCCTTAAGTGCAGTCCCAGAGCACTGGACTCTAGCCTGGGACCCTTGTGAACCAGCCTGGAGCCTTTTTAGCCTCACCTTGGAGCTCTGGAGTAGCCTGGGCCTTTCTCAGACTAGCCTCAGAATTTCCTACCCCCACCCCGCAGCCCTCAGCC
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Task1_train_23861
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An alteration has been detected in MYO15A (myosin XVA) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 3
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CCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCTCCCCTTGAGATGAAGGTTTATCCTGTCCCTACCACCGACTTGCTGAGGGCCACTGTGGTGGCCCCTCACCAGCCTCAGTTTCCCCATCCATACACTGAGGACCAAAGCCCCTGCCTCATAGGCCTTGGAGCCCCATGTGGCACAGAGCAGTGGGTCCAGATGTGCCTGTCAGTCCAGCTCTGTCTGCTCATGTGCCTGCCCTGTGTCTTAGGAACCTGCCTTTGGGATGCTGACAGTGCCCCTGAGGACACCCCTCACGCAGCTGCCAGCCGAGCACCATGCAGAAGCCGTGAGCATCTTCAAGCTGGTATGGGGTCTGCCCCAGCCCACCTTCTAATTCTTAGCCCCTGGCCCTGAAACTGGGCCATGAGGCTCCCAGTCTTCCCAGCCCTCCCCAAGCCCAACCCATGAGCCCCACACCTCTTCCCCAAAGGACAGACTTTTATGTCAGAGGGGGAAATCTGGCTTCCTCTCTGAGGACTGGTGGCTTTTCTTCTCCCAGCCATCTTCCTGGCAAAAAAAAAAAAAAAAAAATTCTGCCTTGGAGCCTCTCAAGGACACCAAGAAGAGACCCAGATCTCCTTAAGGACTTCTCAGTCTGAAGGGGGAGGCAGAGTTGACCCAGCCAGTGACCACCAGTATGGACAGAGGGAAGCACCAAGTCTGGGGAGTCTGATGGGGCCACTAATTCAGCCCTGGGCAGGGCCAGAGAGGGCTTCCTGGAGGAGAAGGCATTTGAGCTGGAGGGGAATTTGCCAGGCAGGGAGAGTGGAGAAAGTACACAGAGAAGAGGAAATTGGTGTGGTCAGAACAGAGTCAAGAGGGCAAGGGTGAGACTGGCCAGTGAGGCCTTGATTACAGTACCCAGAGCTTAGATTTCATCCCAAGGCACCTAGGGAGCCAAGGCAGGTGCTTCCATGGGAGGGTTGTGGTCATATCTGAATGTTAAAAAGAACCCTCTGCGGCCTAGATAGAGCAGGAGGTGGGGGCTGGCTGGAGGGCCAGGGGTGCAGGGAGGGGGCTAGGGCTGCATGGGGAGCTCTAGAAGGTTCATGAACAGGAAAGATGACACATACTTTGGATCTTTAGTTTTCCCATAGTTGAGGTAAACTGCCTGGTCATTCGGCATAGAATATGGCAGTTGTAGGCCAAGCACGGTGGCGCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCCCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCTGCATGTGCCTGTAATCCTAGCTACCTGAGGGGCTGAGGTGGGAGGATCACTTAGGCCCGGGGAAGTTGAGGCTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGTCTGGGTGACAGAGACTCCATCTCAAAAAAATATTCTATATATATAGCAGTTATATTGTAATATAAGGGACATTTATATGGGCAGGGGCACACATGGGAGGGACATGAGAGGGATGCATGTTGTGGGGTGGGGACTGGAAGGAACAACTTTCTGAGATGCCCAGGAGACTCTGTTCGTGGCCCAGATCCTGCGCTTCATGGGCGACCCCCACCTGCATGGTGCCCGGGAGAACATCTTCGGGAACTACATCGTGCAGAAGGGGCTGGCGGTGCCTGAGCTGCGGGATGAGATCCTGGCACAGCTGGCCAATCAGGTGTGGCACAATCACAATGCCCACAATGCTGAGCGGGGCTGGCTGCTGCTGGCCGCCTGCCTCAGTGGCTTTGCACCTTCCCCGTGCTTCAACAAGTACCTTCTCAAGTGAGTGGGACTGGATAGGGGCTGGGACACGAGGGACGGTGGCACCAGCAGTGGAGCCCAAGGCAGGGTCTTAAAGGTCAGGCCAGGAGTCAGATCTCTATGCTGGGAAGCTCAGGCATGGAGGCTGGCCAGGGCTGCTCTGCATTTCTACTGGGCTCAGAGCAAGAAAGGAGGGCAGGCCTTCACTGCAGGGGCTAGGAGTTAGGTCAGACTGGATGAGGGACTTCCAGAACTCAGAGTGGGACAAGACCAGCATGTGGAGAATTTGGAAAAGAGCATTGACCTCTCACAGCATGAGAGTTTAATGGGGTGGTTAGGAGCATGGATACGGGACTCAGACAATCAGGGTTCAAATCCCAGCTCAGCCATATATGAGCTGTGTGACCTTGGGTAAGTTACTTAACCTCTCTGGGCTTTAGTTTCCTTACATATCAAATGGGGGTTATTCTTTTATAGTTTATAAGTGTGATGATTGAGTTTTCATGCTCAGGCATGAGATGTGTCACCCTCAAACCTTGCTAAAACATCAGCACAAGACCAGACGCAGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCGCTTGAGCCCAGGAGTTGAAGACCAGCCTGGACAATGTATTGAGACCTTGTCTCTGCAAAAAATTTAAAAATTAGCTAGGCATAGTGGCACACGCATGTAGTCCCAGCTACTCAAGAGGTTGAGGCAAGAGCATTGCTTGAACCCAGGAGGTTGAGGATGCAGTGAGCCAAGATCATGCCACTTACACTTCAGCCTGGGCAACAGAGCAAGACCCTGTCTGATGTTAAAAAAAAATGGCATAATGATAATACCTACTTCATAGGCTCTTGTGTGGATAAAATATATAAACACACGTAAAGTGCTTAGAACAGAGAGGGGCACATGGTAGGTGCTATGTGGGTATAACCATCACAATGATGTCACCCTGCTGGGTGAGAAGGATGATTTGCAAGGAAATCGCTCAGGCAGGCCCTGGGTGTGAATCTCAGCTCTGATACTTACCTGCTGTGTGGCCTGAGACAAGTCACTGTCCCTCTCTGAACCTGTTTCTTCCCTATAATTTGGGGATGGCAACAGAACCCACCTAACAGGGTGGCTGTGAGTTAGAGTATACAGAATCTTGCTTAGGCCAGCATGCAGCAAATGGACATCACCTGGCCAGTCTTGTGACTCTGTGGCAGCTGACAGCAGGGTAAGGCCGTTGCTGGTCTGCCTGCCTGGGGCTTTCCTGAGGGCATGGTGCTAGGTTCCCTCTCTAGCTACTGTGGGCCTGCACCAGTGCTGCTCTTGGCCAGGCTTAGCTGCAGGAGATGTAGGATGTGGGGGTGAGGGAAGCATGAGGAATGGCTGGTAGGGATTGGGCTCATTGGGCCTGGGTTGAGTTGAACCCTCAGCTGTCCCTTTTATAGGTGAAAACTTGGAGGAGAGGCTCAGAGAGGGCAGATAATCATCCAAGGTTGCCCTGTGAGAGAATGGAGACAGAGTTCTGGTTGTTGCCCACACCCAGCTGCAGACCCCAGCCTGTCAATGACATTTTGTTCCAACAAGCTGGTACCTCTTTGGCCTATCCTTGGACCTCTGGGCTGGCCTGAGATACTTCTGGACTAGCCTGGGACCCTTTCAGTTTAGCCGTGGGACTCTAAACTACCCTGAGATCTTTTGTAGGCTAGCCTGGGACCCCTTAAGTGCAGTCCCAGAGCACTGGACTCTAGCCTGGGACCCTTGTGAACCAGCCTGGAGCCTTTTTAGCCTCACCTTGGAGCTCTGGAGTAGCCTGGGCCTTTCTCAGACTAGCCTCAGAATTTCCTACCCCCACCCCGCAGCCCTCAGCCCCAAGCTAG
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CCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACCACCAACCAGTCTGGAAATATTTCAGAAATTGAACAACTGGTGGAGCCATAGCATGTCAGCCCAGCTCTGATTTCCTCCCCTTGAGATGAAGGTTTATCCTGTCCCTACCACCGACTTGCTGAGGGCCACTGTGGTGGCCCCTCACCAGCCTCAGTTTCCCCATCCATACACTGAGGACCAAAGCCCCTGCCTCATAGGCCTTGGAGCCCCATGTGGCACAGAGCAGTGGGTCCAGATGTGCCTGTCAGTCCAGCTCTGTCTGCTCATGTGCCTGCCCTGTGTCTTAGGAACCTGCCTTTGGGATGCTGACAGTGCCCCTGAGGACACCCCTCACGCAGCTGCCAGCCGAGCACCATGCAGAAGCCGTGAGCATCTTCAAGCTGGTATGGGGTCTGCCCCAGCCCACCTTCTAATTCTTAGCCCCTGGCCCTGAAACTGGGCCATGAGGCTCCCAGTCTTCCCAGCCCTCCCCAAGCCCAACCCATGAGCCCCACACCTCTTCCCCAAAGGACAGACTTTTATGTCAGAGGGGGAAATCTGGCTTCCTCTCTGAGGACTGGTGGCTTTTCTTCTCCCAGCCATCTTCCTGGCAAAAAAAAAAAAAAAAAAATTCTGCCTTGGAGCCTCTCAAGGACACCAAGAAGAGACCCAGATCTCCTTAAGGACTTCTCAGTCTGAAGGGGGAGGCAGAGTTGACCCAGCCAGTGACCACCAGTATGGACAGAGGGAAGCACCAAGTCTGGGGAGTCTGATGGGGCCACTAATTCAGCCCTGGGCAGGGCCAGAGAGGGCTTCCTGGAGGAGAAGGCATTTGAGCTGGAGGGGAATTTGCCAGGCAGGGAGAGTGGAGAAAGTACACAGAGAAGAGGAAATTGGTGTGGTCAGAACAGAGTCAAGAGGGCAAGGGTGAGACTGGCCAGTGAGGCCTTGATTACAGTACCCAGAGCTTAGATTTCATCCCAAGGCACCTAGGGAGCCAAGGCAGGTGCTTCCATGGGAGGGTTGTGGTCATATCTGAATGTTAAAAAGAACCCTCTGCGGCCTAGATAGAGCAGGAGGTGGGGGCTGGCTGGAGGGCCAGGGGTGCAGGGAGGGGGCTAGGGCTGCATGGGGAGCTCTAGAAGGTTCATGAACAGGAAAGATGACACATACTTTGGATCTTTAGTTTTCCCATAGTTGAGGTAAACTGCCTGGTCATTCGGCATAGAATATGGCAGTTGTAGGCCAAGCACGGTGGCGCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCCCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCTGCATGTGCCTGTAATCCTAGCTACCTGAGGGGCTGAGGTGGGAGGATCACTTAGGCCCGGGGAAGTTGAGGCTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGTCTGGGTGACAGAGACTCCATCTCAAAAAAATATTCTATATATATAGCAGTTATATTGTAATATAAGGGACATTTATATGGGCAGGGGCACACATGGGAGGGACATGAGAGGGATGCATGTTGTGGGGTGGGGACTGGAAGGAACAACTTTCTGAGATGCCCAGGAGACTCTGTTCGTGGCCCAGATCCTGCGCTTCATGGGCGACCCCCACCTGCATGGTGCCCGGGAGAACATCTTCGGGAACTACATCATGCAGAAGGGGCTGGCGGTGCCTGAGCTGCGGGATGAGATCCTGGCACAGCTGGCCAATCAGGTGTGGCACAATCACAATGCCCACAATGCTGAGCGGGGCTGGCTGCTGCTGGCCGCCTGCCTCAGTGGCTTTGCACCTTCCCCGTGCTTCAACAAGTACCTTCTCAAGTGAGTGGGACTGGATAGGGGCTGGGACACGAGGGACGGTGGCACCAGCAGTGGAGCCCAAGGCAGGGTCTTAAAGGTCAGGCCAGGAGTCAGATCTCTATGCTGGGAAGCTCAGGCATGGAGGCTGGCCAGGGCTGCTCTGCATTTCTACTGGGCTCAGAGCAAGAAAGGAGGGCAGGCCTTCACTGCAGGGGCTAGGAGTTAGGTCAGACTGGATGAGGGACTTCCAGAACTCAGAGTGGGACAAGACCAGCATGTGGAGAATTTGGAAAAGAGCATTGACCTCTCACAGCATGAGAGTTTAATGGGGTGGTTAGGAGCATGGATACGGGACTCAGACAATCAGGGTTCAAATCCCAGCTCAGCCATATATGAGCTGTGTGACCTTGGGTAAGTTACTTAACCTCTCTGGGCTTTAGTTTCCTTACATATCAAATGGGGGTTATTCTTTTATAGTTTATAAGTGTGATGATTGAGTTTTCATGCTCAGGCATGAGATGTGTCACCCTCAAACCTTGCTAAAACATCAGCACAAGACCAGACGCAGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCGCTTGAGCCCAGGAGTTGAAGACCAGCCTGGACAATGTATTGAGACCTTGTCTCTGCAAAAAATTTAAAAATTAGCTAGGCATAGTGGCACACGCATGTAGTCCCAGCTACTCAAGAGGTTGAGGCAAGAGCATTGCTTGAACCCAGGAGGTTGAGGATGCAGTGAGCCAAGATCATGCCACTTACACTTCAGCCTGGGCAACAGAGCAAGACCCTGTCTGATGTTAAAAAAAAATGGCATAATGATAATACCTACTTCATAGGCTCTTGTGTGGATAAAATATATAAACACACGTAAAGTGCTTAGAACAGAGAGGGGCACATGGTAGGTGCTATGTGGGTATAACCATCACAATGATGTCACCCTGCTGGGTGAGAAGGATGATTTGCAAGGAAATCGCTCAGGCAGGCCCTGGGTGTGAATCTCAGCTCTGATACTTACCTGCTGTGTGGCCTGAGACAAGTCACTGTCCCTCTCTGAACCTGTTTCTTCCCTATAATTTGGGGATGGCAACAGAACCCACCTAACAGGGTGGCTGTGAGTTAGAGTATACAGAATCTTGCTTAGGCCAGCATGCAGCAAATGGACATCACCTGGCCAGTCTTGTGACTCTGTGGCAGCTGACAGCAGGGTAAGGCCGTTGCTGGTCTGCCTGCCTGGGGCTTTCCTGAGGGCATGGTGCTAGGTTCCCTCTCTAGCTACTGTGGGCCTGCACCAGTGCTGCTCTTGGCCAGGCTTAGCTGCAGGAGATGTAGGATGTGGGGGTGAGGGAAGCATGAGGAATGGCTGGTAGGGATTGGGCTCATTGGGCCTGGGTTGAGTTGAACCCTCAGCTGTCCCTTTTATAGGTGAAAACTTGGAGGAGAGGCTCAGAGAGGGCAGATAATCATCCAAGGTTGCCCTGTGAGAGAATGGAGACAGAGTTCTGGTTGTTGCCCACACCCAGCTGCAGACCCCAGCCTGTCAATGACATTTTGTTCCAACAAGCTGGTACCTCTTTGGCCTATCCTTGGACCTCTGGGCTGGCCTGAGATACTTCTGGACTAGCCTGGGACCCTTTCAGTTTAGCCGTGGGACTCTAAACTACCCTGAGATCTTTTGTAGGCTAGCCTGGGACCCCTTAAGTGCAGTCCCAGAGCACTGGACTCTAGCCTGGGACCCTTGTGAACCAGCCTGGAGCCTTTTTAGCCTCACCTTGGAGCTCTGGAGTAGCCTGGGCCTTTCTCAGACTAGCCTCAGAATTTCCTACCCCCACCCCGCAGCCCTCAGCCCCAAGCTAG
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Task1_train_23862
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This sequence change occurs on Chromosome 17, altering MYO15A (myosin XVA). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 3
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CCGGTGACCAGTGCACCAAGGCCATCCATGGCACCCACTTCAGGTGAGAGGGCCAGGAGGGAGGGAGGGGAGGGTGTCCAAGTATATGAGGAAGTCTGTGGGCACAGGTGAGTGTGTCGGTGGAGTGTGTGTGTCTATGTCCCTGAGCCCCTGTGTACATCTTGTGAGCACATTGGTGTAATTATAATGTCAATACTTAAGTAGCACAGATCTCAGGCCAGGCCCATCCTGGCCTCATGTAATCCTACCAGAACCCTTCAAGGTAGCACTGTTGTTCCTACATGTTGCAGATGGGGAAATGGAGGCACAGATAGGTTAACTGGCTTGCCTAAGGTCACACAGCTCAAAAGTGTCAGACCAGGGATATCAGCTCAGGCCTCCTGGCATCACAGTTGAAGCCCTAACCTCTACACCCTTTGTCTCTCAGCAGCTGCAGTGATCTTAACAGCTATAAAGCAGTTCCCATCCTGCCCCTGATAAAAAACCCTCTGATGGCTCCTACAATAAGCTCCAAACTCCTCACCGTGGCCTATGAGACGCGACATGATGTGCCCACCTCCCCAGCCTCATCTCCTCTCTTCCTCCCCTTGGCACATTCTGTTCCTCTCTGTTCTCGGAACACTCCAAGCCCACTCCTGCCTTGCATGTTCCCTGTGCCTAGAATGCTCTTCCCCAAGACCTTTGCATGCCTGGCTCCTTCTCACCATTCATGTCACAGCTCAAATGTCACCTCTGTCACCTCGGCAAGGTCTGCCTAGATTGCTAGGAGTGAAGGACCTCACAGACCAGCTCTCCAGGATCCATCCTAAACCACCCTGCTTTACTGCCACCCCAGCCTCGGGCAGTGAGAGCTTTGTTTCTGAATGATCTGTGCCACCCACACCTGCCATGGGCACTAAACTCCAGGGCAGGGGCATTGTTTACCTTATTTGCGGGGCCATCTCAGCCTTTAGCCCAGGCCTGTATACAATAGGTGTTTTGGCTGGGTGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATCCTGGCCAATATGGTGAAACCCCTTCTCTGCTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGCACATCCAATAGGTGTTTTTATGTGTTGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTGGGCCGAGATTGCGCCACTGCACTCTAGCCTGGGGGACAACAGCGAAACTCCGTCTCAAAAATATATATATATATTAATTAAATAAAAAAACGAGGTGCCTTCTCCTGACTCCCTGATCCCCGCGCTCTCCAGCTCTGCCCTCGCGATCGCTGGAGCCCCCTGAGGAACTCACGCAGACGCGGCTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGACGCCCCCTGGAAGATCTTCCTGCGCAAAGAGGTGCCGAGCACAGCCGTAGCCAGGGGAGGGGCTGAAGCGGGGCAGGGGAGGGGCTGAAGCGAGCAGAGGAGGGTCTAGGACTTGGGGAGGGAGCCCAGGAGGACAGAAAAAGGCCGGGCTGAAACCAGGGGTGGGGTTACAGCCGGGGCGGAACTGCATTTAGGGGGCGGGGCCGGGTGTGAAGCAAGGCCAGGGGGCAGTCGGACAGTACCCACTGAAGCCCCGCCCCTGCAGGTGTTTTACCCCAAGGACAGCTACAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGTGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGAACATG
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CCGGTGACCAGTGCACCAAGGCCATCCATGGCACCCACTTCAGGTGAGAGGGCCAGGAGGGAGGGAGGGGAGGGTGTCCAAGTATATGAGGAAGTCTGTGGGCACAGGTGAGTGTGTCGGTGGAGTGTGTGTGTCTATGTCCCTGAGCCCCTGTGTACATCTTGTGAGCACATTGGTGTAATTATAATGTCAATACTTAAGTAGCACAGATCTCAGGCCAGGCCCATCCTGGCCTCATGTAATCCTACCAGAACCCTTCAAGGTAGCACTGTTGTTCCTACATGTTGCAGATGGGGAAATGGAGGCACAGATAGGTTAACTGGCTTGCCTAAGGTCACACAGCTCAAAAGTGTCAGACCAGGGATATCAGCTCAGGCCTCCTGGCATCACAGTTGAAGCCCTAACCTCTACACCCTTTGTCTCTCAGCAGCTGCAGTGATCTTAACAGCTATAAAGCAGTTCCCATCCTGCCCCTGATAAAAAACCCTCTGATGGCTCCTACAATAAGCTCCAAACTCCTCACCGTGGCCTATGAGACGCGACATGATGTGCCCACCTCCCCAGCCTCATCTCCTCTCTTCCTCCCCTTGGCACATTCTGTTCCTCTCTGTTCTCGGAACACTCCAAGCCCACTCCTGCCTTGCATGTTCCCTGTGCCTAGAATGCTCTTCCCCAAGACCTTTGCATGCCTGGCTCCTTCTCACCATTCATGTCACAGCTCAAATGTCACCTCTGTCACCTCGGCAAGGTCTGCCTAGATTGCTAGGAGTGAAGGACCTCACAGACCAGCTCTCCAGGATCCATCCTAAACCACCCTGCTTTACTGCCACCCCAGCCTCGGGCAGTGAGAGCTTTGTTTCTGAATGATCTGTGCCACCCACACCTGCCATGGGCACTAAACTCCAGGGCAGGGGCATTGTTTACCTTATTTGCGGGGCCATCTCAGCCTTTAGCCCAGGCCTGTATACAATAGGTGTTTTGGCTGGGTGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATCCTGGCCAATATGGTGAAACCCCTTCTCTGCTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGCACATCCAATAGGTGTTTTTATGTGTTGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTGGGCCGAGATTGCGCCACTGCACTCTAGCCTGGGGGACAACAGCGAAACTCCGTCTCAAAAATATATATATATATTAATTAAATAAAAAAACGAGGTGCCTTCTCCTGACTCCCTGATCCCCGCGCTCTCCAGCTCTGCCCTCGCGATCGCTGGAGCCCCCTGAGGAACTCACGCAGACGCGGCTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGACGCCCCCTGGAAGATCTTCCTGCGCAAAGAGGTGCCGAGCACAGCCGTAGCCAGGGGAGGGGCTGAAGCGGGGCAGGGGAGGGGCTGAAGCGAGCAGAGGAGGGTCTAGGACTTGGGGAGGGAGCCCAGGAGGACAGAAAAAGGCCGGGCTGAAACCAGGGGTGGGGTTACAGCCGGGGCGGAACTGCATTTAGGGGGCGGGGCCGGGTGTGAAGCAAGGCCAGGGGGCAGTCGGACAGTACCCACTGAAGCCCCGCCCCTGCAGGTGTTTTACCCCAAGGACAGCTACAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCATGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGTGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGAACATG
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Task1_train_23863
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A variant affecting Chromosome 17, within the gene MYO15A (myosin XVA), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 3
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TGGGAGTCCGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATCCTGGCCAATATGGTGAAACCCCTTCTCTGCTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGCACATCCAATAGGTGTTTTTATGTGTTGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTGGGCCGAGATTGCGCCACTGCACTCTAGCCTGGGGGACAACAGCGAAACTCCGTCTCAAAAATATATATATATATTAATTAAATAAAAAAACGAGGTGCCTTCTCCTGACTCCCTGATCCCCGCGCTCTCCAGCTCTGCCCTCGCGATCGCTGGAGCCCCCTGAGGAACTCACGCAGACGCGGCTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGACGCCCCCTGGAAGATCTTCCTGCGCAAAGAGGTGCCGAGCACAGCCGTAGCCAGGGGAGGGGCTGAAGCGGGGCAGGGGAGGGGCTGAAGCGAGCAGAGGAGGGTCTAGGACTTGGGGAGGGAGCCCAGGAGGACAGAAAAAGGCCGGGCTGAAACCAGGGGTGGGGTTACAGCCGGGGCGGAACTGCATTTAGGGGGCGGGGCCGGGTGTGAAGCAAGGCCAGGGGGCAGTCGGACAGTACCCACTGAAGCCCCGCCCCTGCAGGTGTTTTACCCCAAGGACAGCTACAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGTGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGAACATGCTGGAGTTCAACCTGGCCAGTGAGAAGGTCATCCTCTTCTCAGCCCGAGCGCACCAGGTCAAGACCCTGGTAGATGACTTCATCTTGGAGCTGAAGAAGGTCAGGATCTTCTCACAGATCTTCCCTCCACCCAGGCTGAGGGCCAGCAACAGGGATCTCCCTGTTCCAGGGAAATATGACTGTGTCCATAGATTTCTGTCTACCTTAAGGCCTTTGCACTGGCTGTGCCTTCCACTTGGAATACCCTTTCTCCCTTTTGCCTGCTCCTTCAGAAAACCTTTGCCAGTGCCCCCTGCCGGGTGGCACAGCACCTCCTCTGAGGTCTGCAGCAATTGTACTCCTTACCCTCCTGCCTTGGCTGCATGGCCCGCCCACTGCATCACAATCTCTTTCCATCCCCTCTGCCCACTCCTGACTGGCAGCCCCCAGGCCTAGGGCAGGTCATCTCTGTGCCCCAGGCCCGAGGAAGACTTCAGCAGGAAAGTCTGTGAGGGATTGAGTGGGGAAGGCCTATGTGTGTGCCCTAAAGTCCATCTGTGTCCCTCAGACTCACCCTCCAGCCCTTTCTTCCACCCAGAATGCCCTTCCCTCTTCTCACCTAATGAAGGCTCCCTTCCCTGATGAGTCAGGAAGGATGTGAGGAGCAGGGGTGGCCCTAGGCCTCTGGGAGTGGGGTGATAGGGCTGTTGCCCTCACCCTGCCTCTGGCTGACCCAGGACTCTGACTACGTGGTCGCTGTGAGGAACTTCCTGCCTGAGGACCCTGCGCTGCTGGCTTTCCACAAGGGTGACATCATACACCTGCAGCCCCTAGAGCCACCTCGAGTGGGTCAGTGCCACTGGGGTGGGCTGGGGGCAGGAGGGGGAGGCTGGCCAAGGGGGCCTCCCTGGCAGATGCTGACCCGAGCCTGGCCCATAGGCTACAGTGCTGGCTGCGTGGTTCGCAGGAAGGTGGTGTACCTGGAGGAGCTGCGACGTAGAGGCCCCGACTTTGGTGTGTGCCCCAGAACCTGGAACCCC
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TGGGAGTCCGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATCCTGGCCAATATGGTGAAACCCCTTCTCTGCTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGCACATCCAATAGGTGTTTTTATGTGTTGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTGGGCCGAGATTGCGCCACTGCACTCTAGCCTGGGGGACAACAGCGAAACTCCGTCTCAAAAATATATATATATATTAATTAAATAAAAAAACGAGGTGCCTTCTCCTGACTCCCTGATCCCCGCGCTCTCCAGCTCTGCCCTCGCGATCGCTGGAGCCCCCTGAGGAACTCACGCAGACGCGGCTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGACGCCCCCTGGAAGATCTTCCTGCGCAAAGAGGTGCCGAGCACAGCCGTAGCCAGGGGAGGGGCTGAAGCGGGGCAGGGGAGGGGCTGAAGCGAGCAGAGGAGGGTCTAGGACTTGGGGAGGGAGCCCAGGAGGACAGAAAAAGGCCGGGCTGAAACCAGGGGTGGGGTTACAGCCGGGGCGGAACTGCATTTAGGGGGCGGGGCCGGGTGTGAAGCAAGGCCAGGGGGCAGTCGGACAGTACCCACTGAAGCCCCGCCCCTGCAGGTGTTTTACCCCAAGGACAGCTACAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCTCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGTGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGAACATGCTGGAGTTCAACCTGGCCAGTGAGAAGGTCATCCTCTTCTCAGCCCGAGCGCACCAGGTCAAGACCCTGGTAGATGACTTCATCTTGGAGCTGAAGAAGGTCAGGATCTTCTCACAGATCTTCCCTCCACCCAGGCTGAGGGCCAGCAACAGGGATCTCCCTGTTCCAGGGAAATATGACTGTGTCCATAGATTTCTGTCTACCTTAAGGCCTTTGCACTGGCTGTGCCTTCCACTTGGAATACCCTTTCTCCCTTTTGCCTGCTCCTTCAGAAAACCTTTGCCAGTGCCCCCTGCCGGGTGGCACAGCACCTCCTCTGAGGTCTGCAGCAATTGTACTCCTTACCCTCCTGCCTTGGCTGCATGGCCCGCCCACTGCATCACAATCTCTTTCCATCCCCTCTGCCCACTCCTGACTGGCAGCCCCCAGGCCTAGGGCAGGTCATCTCTGTGCCCCAGGCCCGAGGAAGACTTCAGCAGGAAAGTCTGTGAGGGATTGAGTGGGGAAGGCCTATGTGTGTGCCCTAAAGTCCATCTGTGTCCCTCAGACTCACCCTCCAGCCCTTTCTTCCACCCAGAATGCCCTTCCCTCTTCTCACCTAATGAAGGCTCCCTTCCCTGATGAGTCAGGAAGGATGTGAGGAGCAGGGGTGGCCCTAGGCCTCTGGGAGTGGGGTGATAGGGCTGTTGCCCTCACCCTGCCTCTGGCTGACCCAGGACTCTGACTACGTGGTCGCTGTGAGGAACTTCCTGCCTGAGGACCCTGCGCTGCTGGCTTTCCACAAGGGTGACATCATACACCTGCAGCCCCTAGAGCCACCTCGAGTGGGTCAGTGCCACTGGGGTGGGCTGGGGGCAGGAGGGGGAGGCTGGCCAAGGGGGCCTCCCTGGCAGATGCTGACCCGAGCCTGGCCCATAGGCTACAGTGCTGGCTGCGTGGTTCGCAGGAAGGTGGTGTACCTGGAGGAGCTGCGACGTAGAGGCCCCGACTTTGGTGTGTGCCCCAGAACCTGGAACCCC
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Task1_train_23864
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Located on Chromosome 17, this mutation impacts MYO15A (myosin XVA). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; not specified
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TGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTGGGCCGAGATTGCGCCACTGCACTCTAGCCTGGGGGACAACAGCGAAACTCCGTCTCAAAAATATATATATATATTAATTAAATAAAAAAACGAGGTGCCTTCTCCTGACTCCCTGATCCCCGCGCTCTCCAGCTCTGCCCTCGCGATCGCTGGAGCCCCCTGAGGAACTCACGCAGACGCGGCTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGACGCCCCCTGGAAGATCTTCCTGCGCAAAGAGGTGCCGAGCACAGCCGTAGCCAGGGGAGGGGCTGAAGCGGGGCAGGGGAGGGGCTGAAGCGAGCAGAGGAGGGTCTAGGACTTGGGGAGGGAGCCCAGGAGGACAGAAAAAGGCCGGGCTGAAACCAGGGGTGGGGTTACAGCCGGGGCGGAACTGCATTTAGGGGGCGGGGCCGGGTGTGAAGCAAGGCCAGGGGGCAGTCGGACAGTACCCACTGAAGCCCCGCCCCTGCAGGTGTTTTACCCCAAGGACAGCTACAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGTGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGAACATGCTGGAGTTCAACCTGGCCAGTGAGAAGGTCATCCTCTTCTCAGCCCGAGCGCACCAGGTCAAGACCCTGGTAGATGACTTCATCTTGGAGCTGAAGAAGGTCAGGATCTTCTCACAGATCTTCCCTCCACCCAGGCTGAGGGCCAGCAACAGGGATCTCCCTGTTCCAGGGAAATATGACTGTGTCCATAGATTTCTGTCTACCTTAAGGCCTTTGCACTGGCTGTGCCTTCCACTTGGAATACCCTTTCTCCCTTTTGCCTGCTCCTTCAGAAAACCTTTGCCAGTGCCCCCTGCCGGGTGGCACAGCACCTCCTCTGAGGTCTGCAGCAATTGTACTCCTTACCCTCCTGCCTTGGCTGCATGGCCCGCCCACTGCATCACAATCTCTTTCCATCCCCTCTGCCCACTCCTGACTGGCAGCCCCCAGGCCTAGGGCAGGTCATCTCTGTGCCCCAGGCCCGAGGAAGACTTCAGCAGGAAAGTCTGTGAGGGATTGAGTGGGGAAGGCCTATGTGTGTGCCCTAAAGTCCATCTGTGTCCCTCAGACTCACCCTCCAGCCCTTTCTTCCACCCAGAATGCCCTTCCCTCTTCTCACCTAATGAAGGCTCCCTTCCCTGATGAGTCAGGAAGGATGTGAGGAGCAGGGGTGGCCCTAGGCCTCTGGGAGTGGGGTGATAGGGCTGTTGCCCTCACCCTGCCTCTGGCTGACCCAGGACTCTGACTACGTGGTCGCTGTGAGGAACTTCCTGCCTGAGGACCCTGCGCTGCTGGCTTTCCACAAGGGTGACATCATACACCTGCAGCCCCTAGAGCCACCTCGAGTGGGTCAGTGCCACTGGGGTGGGCTGGGGGCAGGAGGGGGAGGCTGGCCAAGGGGGCCTCCCTGGCAGATGCTGACCCGAGCCTGGCCCATAGGCTACAGTGCTGGCTGCGTGGTTCGCAGGAAGGTGGTGTACCTGGAGGAGCTGCGACGTAGAGGCCCCGACTTTGGTGTGTGCCCCAGAACCTGGAACCCCATACGGGGCGCATCCTAGTTTCACCCACTCGTGGTGCAGATGCACAGTGAGGGTTTCTTGGTGCCCGAAAGTGGCCTGGGCTGGTCAGGTCTCCTAAGGTCCAGCCGTGGCCTGTCAGTATCTGTTGGTGGCCAGACAG
|
TGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTGGGCCGAGATTGCGCCACTGCACTCTAGCCTGGGGGACAACAGCGAAACTCCGTCTCAAAAATATATATATATATTAATTAAATAAAAAAACGAGGTGCCTTCTCCTGACTCCCTGATCCCCGCGCTCTCCAGCTCTGCCCTCGCGATCGCTGGAGCCCCCTGAGGAACTCACGCAGACGCGGCTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGACGCCCCCTGGAAGATCTTCCTGCGCAAAGAGGTGCCGAGCACAGCCGTAGCCAGGGGAGGGGCTGAAGCGGGGCAGGGGAGGGGCTGAAGCGAGCAGAGGAGGGTCTAGGACTTGGGGAGGGAGCCCAGGAGGACAGAAAAAGGCCGGGCTGAAACCAGGGGTGGGGTTACAGCCGGGGCGGAACTGCATTTAGGGGGCGGGGCCGGGTGTGAAGCAAGGCCAGGGGGCAGTCGGACAGTACCCACTGAAGCCCCGCCCCTGCAGGTGTTTTACCCCAAGGACAGCTACAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGCGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGAACATGCTGGAGTTCAACCTGGCCAGTGAGAAGGTCATCCTCTTCTCAGCCCGAGCGCACCAGGTCAAGACCCTGGTAGATGACTTCATCTTGGAGCTGAAGAAGGTCAGGATCTTCTCACAGATCTTCCCTCCACCCAGGCTGAGGGCCAGCAACAGGGATCTCCCTGTTCCAGGGAAATATGACTGTGTCCATAGATTTCTGTCTACCTTAAGGCCTTTGCACTGGCTGTGCCTTCCACTTGGAATACCCTTTCTCCCTTTTGCCTGCTCCTTCAGAAAACCTTTGCCAGTGCCCCCTGCCGGGTGGCACAGCACCTCCTCTGAGGTCTGCAGCAATTGTACTCCTTACCCTCCTGCCTTGGCTGCATGGCCCGCCCACTGCATCACAATCTCTTTCCATCCCCTCTGCCCACTCCTGACTGGCAGCCCCCAGGCCTAGGGCAGGTCATCTCTGTGCCCCAGGCCCGAGGAAGACTTCAGCAGGAAAGTCTGTGAGGGATTGAGTGGGGAAGGCCTATGTGTGTGCCCTAAAGTCCATCTGTGTCCCTCAGACTCACCCTCCAGCCCTTTCTTCCACCCAGAATGCCCTTCCCTCTTCTCACCTAATGAAGGCTCCCTTCCCTGATGAGTCAGGAAGGATGTGAGGAGCAGGGGTGGCCCTAGGCCTCTGGGAGTGGGGTGATAGGGCTGTTGCCCTCACCCTGCCTCTGGCTGACCCAGGACTCTGACTACGTGGTCGCTGTGAGGAACTTCCTGCCTGAGGACCCTGCGCTGCTGGCTTTCCACAAGGGTGACATCATACACCTGCAGCCCCTAGAGCCACCTCGAGTGGGTCAGTGCCACTGGGGTGGGCTGGGGGCAGGAGGGGGAGGCTGGCCAAGGGGGCCTCCCTGGCAGATGCTGACCCGAGCCTGGCCCATAGGCTACAGTGCTGGCTGCGTGGTTCGCAGGAAGGTGGTGTACCTGGAGGAGCTGCGACGTAGAGGCCCCGACTTTGGTGTGTGCCCCAGAACCTGGAACCCCATACGGGGCGCATCCTAGTTTCACCCACTCGTGGTGCAGATGCACAGTGAGGGTTTCTTGGTGCCCGAAAGTGGCCTGGGCTGGTCAGGTCTCCTAAGGTCCAGCCGTGGCCTGTCAGTATCTGTTGGTGGCCAGACAG
|
Task1_train_23865
|
An alteration has been detected in MYO15A (myosin XVA) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 3
|
TGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTGGGCCGAGATTGCGCCACTGCACTCTAGCCTGGGGGACAACAGCGAAACTCCGTCTCAAAAATATATATATATATTAATTAAATAAAAAAACGAGGTGCCTTCTCCTGACTCCCTGATCCCCGCGCTCTCCAGCTCTGCCCTCGCGATCGCTGGAGCCCCCTGAGGAACTCACGCAGACGCGGCTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGACGCCCCCTGGAAGATCTTCCTGCGCAAAGAGGTGCCGAGCACAGCCGTAGCCAGGGGAGGGGCTGAAGCGGGGCAGGGGAGGGGCTGAAGCGAGCAGAGGAGGGTCTAGGACTTGGGGAGGGAGCCCAGGAGGACAGAAAAAGGCCGGGCTGAAACCAGGGGTGGGGTTACAGCCGGGGCGGAACTGCATTTAGGGGGCGGGGCCGGGTGTGAAGCAAGGCCAGGGGGCAGTCGGACAGTACCCACTGAAGCCCCGCCCCTGCAGGTGTTTTACCCCAAGGACAGCTACAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGTGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGAACATGCTGGAGTTCAACCTGGCCAGTGAGAAGGTCATCCTCTTCTCAGCCCGAGCGCACCAGGTCAAGACCCTGGTAGATGACTTCATCTTGGAGCTGAAGAAGGTCAGGATCTTCTCACAGATCTTCCCTCCACCCAGGCTGAGGGCCAGCAACAGGGATCTCCCTGTTCCAGGGAAATATGACTGTGTCCATAGATTTCTGTCTACCTTAAGGCCTTTGCACTGGCTGTGCCTTCCACTTGGAATACCCTTTCTCCCTTTTGCCTGCTCCTTCAGAAAACCTTTGCCAGTGCCCCCTGCCGGGTGGCACAGCACCTCCTCTGAGGTCTGCAGCAATTGTACTCCTTACCCTCCTGCCTTGGCTGCATGGCCCGCCCACTGCATCACAATCTCTTTCCATCCCCTCTGCCCACTCCTGACTGGCAGCCCCCAGGCCTAGGGCAGGTCATCTCTGTGCCCCAGGCCCGAGGAAGACTTCAGCAGGAAAGTCTGTGAGGGATTGAGTGGGGAAGGCCTATGTGTGTGCCCTAAAGTCCATCTGTGTCCCTCAGACTCACCCTCCAGCCCTTTCTTCCACCCAGAATGCCCTTCCCTCTTCTCACCTAATGAAGGCTCCCTTCCCTGATGAGTCAGGAAGGATGTGAGGAGCAGGGGTGGCCCTAGGCCTCTGGGAGTGGGGTGATAGGGCTGTTGCCCTCACCCTGCCTCTGGCTGACCCAGGACTCTGACTACGTGGTCGCTGTGAGGAACTTCCTGCCTGAGGACCCTGCGCTGCTGGCTTTCCACAAGGGTGACATCATACACCTGCAGCCCCTAGAGCCACCTCGAGTGGGTCAGTGCCACTGGGGTGGGCTGGGGGCAGGAGGGGGAGGCTGGCCAAGGGGGCCTCCCTGGCAGATGCTGACCCGAGCCTGGCCCATAGGCTACAGTGCTGGCTGCGTGGTTCGCAGGAAGGTGGTGTACCTGGAGGAGCTGCGACGTAGAGGCCCCGACTTTGGTGTGTGCCCCAGAACCTGGAACCCCATACGGGGCGCATCCTAGTTTCACCCACTCGTGGTGCAGATGCACAGTGAGGGTTTCTTGGTGCCCGAAAGTGGCCTGGGCTGGTCAGGTCTCCTAAGGTCCAGCCGTGGCCTGTCAGTATCTGTTGGTGGCCAGACAG
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TGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTGGGCCGAGATTGCGCCACTGCACTCTAGCCTGGGGGACAACAGCGAAACTCCGTCTCAAAAATATATATATATATTAATTAAATAAAAAAACGAGGTGCCTTCTCCTGACTCCCTGATCCCCGCGCTCTCCAGCTCTGCCCTCGCGATCGCTGGAGCCCCCTGAGGAACTCACGCAGACGCGGCTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGACGCCCCCTGGAAGATCTTCCTGCGCAAAGAGGTGCCGAGCACAGCCGTAGCCAGGGGAGGGGCTGAAGCGGGGCAGGGGAGGGGCTGAAGCGAGCAGAGGAGGGTCTAGGACTTGGGGAGGGAGCCCAGGAGGACAGAAAAAGGCCGGGCTGAAACCAGGGGTGGGGTTACAGCCGGGGCGGAACTGCATTTAGGGGGCGGGGCCGGGTGTGAAGCAAGGCCAGGGGGCAGTCGGACAGTACCCACTGAAGCCCCGCCCCTGCAGGTGTTTTACCCCAAGGACAGCTACAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGCGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGAACATGCTGGAGTTCAACCTGGCCAGTGAGAAGGTCATCCTCTTCTCAGCCCGAGCGCACCAGGTCAAGACCCTGGTAGATGACTTCATCTTGGAGCTGAAGAAGGTCAGGATCTTCTCACAGATCTTCCCTCCACCCAGGCTGAGGGCCAGCAACAGGGATCTCCCTGTTCCAGGGAAATATGACTGTGTCCATAGATTTCTGTCTACCTTAAGGCCTTTGCACTGGCTGTGCCTTCCACTTGGAATACCCTTTCTCCCTTTTGCCTGCTCCTTCAGAAAACCTTTGCCAGTGCCCCCTGCCGGGTGGCACAGCACCTCCTCTGAGGTCTGCAGCAATTGTACTCCTTACCCTCCTGCCTTGGCTGCATGGCCCGCCCACTGCATCACAATCTCTTTCCATCCCCTCTGCCCACTCCTGACTGGCAGCCCCCAGGCCTAGGGCAGGTCATCTCTGTGCCCCAGGCCCGAGGAAGACTTCAGCAGGAAAGTCTGTGAGGGATTGAGTGGGGAAGGCCTATGTGTGTGCCCTAAAGTCCATCTGTGTCCCTCAGACTCACCCTCCAGCCCTTTCTTCCACCCAGAATGCCCTTCCCTCTTCTCACCTAATGAAGGCTCCCTTCCCTGATGAGTCAGGAAGGATGTGAGGAGCAGGGGTGGCCCTAGGCCTCTGGGAGTGGGGTGATAGGGCTGTTGCCCTCACCCTGCCTCTGGCTGACCCAGGACTCTGACTACGTGGTCGCTGTGAGGAACTTCCTGCCTGAGGACCCTGCGCTGCTGGCTTTCCACAAGGGTGACATCATACACCTGCAGCCCCTAGAGCCACCTCGAGTGGGTCAGTGCCACTGGGGTGGGCTGGGGGCAGGAGGGGGAGGCTGGCCAAGGGGGCCTCCCTGGCAGATGCTGACCCGAGCCTGGCCCATAGGCTACAGTGCTGGCTGCGTGGTTCGCAGGAAGGTGGTGTACCTGGAGGAGCTGCGACGTAGAGGCCCCGACTTTGGTGTGTGCCCCAGAACCTGGAACCCCATACGGGGCGCATCCTAGTTTCACCCACTCGTGGTGCAGATGCACAGTGAGGGTTTCTTGGTGCCCGAAAGTGGCCTGGGCTGGTCAGGTCTCCTAAGGTCCAGCCGTGGCCTGTCAGTATCTGTTGGTGGCCAGACAG
|
Task1_train_23866
|
A variant affecting Chromosome 17, within the gene MYO15A (myosin XVA), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 3
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CAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGTGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGAACATGCTGGAGTTCAACCTGGCCAGTGAGAAGGTCATCCTCTTCTCAGCCCGAGCGCACCAGGTCAAGACCCTGGTAGATGACTTCATCTTGGAGCTGAAGAAGGTCAGGATCTTCTCACAGATCTTCCCTCCACCCAGGCTGAGGGCCAGCAACAGGGATCTCCCTGTTCCAGGGAAATATGACTGTGTCCATAGATTTCTGTCTACCTTAAGGCCTTTGCACTGGCTGTGCCTTCCACTTGGAATACCCTTTCTCCCTTTTGCCTGCTCCTTCAGAAAACCTTTGCCAGTGCCCCCTGCCGGGTGGCACAGCACCTCCTCTGAGGTCTGCAGCAATTGTACTCCTTACCCTCCTGCCTTGGCTGCATGGCCCGCCCACTGCATCACAATCTCTTTCCATCCCCTCTGCCCACTCCTGACTGGCAGCCCCCAGGCCTAGGGCAGGTCATCTCTGTGCCCCAGGCCCGAGGAAGACTTCAGCAGGAAAGTCTGTGAGGGATTGAGTGGGGAAGGCCTATGTGTGTGCCCTAAAGTCCATCTGTGTCCCTCAGACTCACCCTCCAGCCCTTTCTTCCACCCAGAATGCCCTTCCCTCTTCTCACCTAATGAAGGCTCCCTTCCCTGATGAGTCAGGAAGGATGTGAGGAGCAGGGGTGGCCCTAGGCCTCTGGGAGTGGGGTGATAGGGCTGTTGCCCTCACCCTGCCTCTGGCTGACCCAGGACTCTGACTACGTGGTCGCTGTGAGGAACTTCCTGCCTGAGGACCCTGCGCTGCTGGCTTTCCACAAGGGTGACATCATACACCTGCAGCCCCTAGAGCCACCTCGAGTGGGTCAGTGCCACTGGGGTGGGCTGGGGGCAGGAGGGGGAGGCTGGCCAAGGGGGCCTCCCTGGCAGATGCTGACCCGAGCCTGGCCCATAGGCTACAGTGCTGGCTGCGTGGTTCGCAGGAAGGTGGTGTACCTGGAGGAGCTGCGACGTAGAGGCCCCGACTTTGGTGTGTGCCCCAGAACCTGGAACCCCATACGGGGCGCATCCTAGTTTCACCCACTCGTGGTGCAGATGCACAGTGAGGGTTTCTTGGTGCCCGAAAGTGGCCTGGGCTGGTCAGGTCTCCTAAGGTCCAGCCGTGGCCTGTCAGTATCTGTTGGTGGCCAGACAGCCCAGCCCTCTGCTTTGCCTGAGGGGTCTCCGTGGGCATTTCCATGTTTGTGGCCTGAATCTCTCTTTATGTCTCCACATGACCTGAGAGTCCACAAACCCTGCTTTGCCTTTTTGCTTCACTTCCCCTTTATGGTCCTGTGGCCCTGAGAAAATCCCTTTCTTTCCCTGAGCCTGTTTCCTCATCTGTAAAATGGGTTTGATGGCCTGGCCTGCCTCATAGAGTTCCAGAGAAGGGTTAAGAATGTTCCCAAATCTCCCTAAAGGACCCCCTTAGTCACAAGACAAGACCCTCCTGTTTGCCTCAGACCTTTTACCCACCCCTAGGCTGGAGGTTCGGGACCATCCACGGGCGCGTGGGCCGCTTCCCTTCGGAGCTGGTGCAGCCCGCTGCTGCCCCCGACTTCCTGCAGCTGCCAACGGAGCCAGGCCGCGGCCGAGCAGCCGCCGTGGCCGCTGCTGTGGCCTCTGCAGCCGCTGCACAGGAGGTGGGCCGCAGGAGAGAGGTGAGACCAGTGTGGGTGGGGTGGGGCGGGGTAGACCAGGGGGAAGGGGCCGCTGCAGAAGGGGTGAGGCGAGTGGGGATAAGGTGGGCCAAGGGCCTGGCCAGGCTCTTGGGGCGTGGCTGATCTTGGACTAGTGTGAGGGTGAACCAGGTAGAGTGAGCCGCAGGTGAGACCCGGGAGATGGGACCAGAGATGGTTGGAGGTGTGGCCAAATGGGGTAGGGAAGGATGAAGATCAGCTGGTTGTAATCAGGACAATGGGGTCAGACCAGCCGGGGCCCGCCAGTTGGTGAAGTCTACTGGGTTTGGGGCGGTGCCAGGTGAGTGGGCGGCTTGTGGAGCTAGCGAGG
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CAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAATGCCTGACACACTGTGTGTCCTGGCCATCTCATCCATTTCTGGGTTTCAGTTTTCTAGTATAGACACTGGTCAGATACCTTCTTGCTGGGTATCAGCCACCTCCCTCCCTGACATCCCCGAGATGGGGGTTGCCAGGGGAGTGGGGAGAGGGTCCTGACCAGACCTGGCCTCCCATAGCCCAGAACCAGCTGGACACACAGAAGCCTCTGGTAACGGAAAGCGTGAAGCGGGCCGTGGTCAGCACTGCACGAGACACCTGGGAGGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGTCCAGAGGATTCAGGGATGAGACAAGAGGATCCTCACACGCCCTTCATCTCTGCCCCAGGGCAGCGTGGGCACTGGTGTGCAGCTCCTAGCTGTGTCCCACGTGGGCATCAAACTCCTGAGGATGGTCAAGGGTGGCCAGGAGGCCGGCGGGCAGCTGCGGGTCCTGCGTGCATACAGGTGACCAGCAGGGGTGAAGTGGGGCTGGCTGGAGACTGGGATACAGACTGGCATCGGCATTTCCTTCCCCTCCACAGCCACTTACCAAGTACCCATGATGCGCCAGGCTCTGTGCCAAGCCATTGAAGCAAACCCATTTTAGAGCTGGGGAAACTGAGGCTCAGAGAGAGAAGTTGTTTGTCTCAGGTCACACAGCCAGGAAGGGATTGAGCTAGGCACCCACTCCCCTGCCCTCCCCCCAACCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGGGCTTCAAATGGGGCAGGACAGGATCAGAAGCAGCACAATAGGTGGAAGGAGGGCATCCCTCTGGCAGGGGAGTCATGCCACCGGCCCATCCTCCAGCTTTGCAAATATCCTGTTTGTGACCATGCCCTCCCAGAACATGCTGGAGTTCAACCTGGCCAGTGAGAAGGTCATCCTCTTCTCAGCCCGAGCGCACCAGGTCAAGACCCTGGTAGATGACTTCATCTTGGAGCTGAAGAAGGTCAGGATCTTCTCACAGATCTTCCCTCCACCCAGGCTGAGGGCCAGCAACAGGGATCTCCCTGTTCCAGGGAAATATGACTGTGTCCATAGATTTCTGTCTACCTTAAGGCCTTTGCACTGGCTGTGCCTTCCACTTGGAATACCCTTTCTCCCTTTTGCCTGCTCCTTCAGAAAACCTTTGCCAGTGCCCCCTGCCGGGTGGCACAGCACCTCCTCTGAGGTCTGCAGCAATTGTACTCCTTACCCTCCTGCCTTGGCTGCATGGCCCGCCCACTGCATCACAATCTCTTTCCATCCCCTCTGCCCACTCCTGACTGGCAGCCCCCAGGCCTAGGGCAGGTCATCTCTGTGCCCCAGGCCCGAGGAAGACTTCAGCAGGAAAGTCTGTGAGGGATTGAGTGGGGAAGGCCTATGTGTGTGCCCTAAAGTCCATCTGTGTCCCTCAGACTCACCCTCCAGCCCTTTCTTCCACCCAGAATGCCCTTCCCTCTTCTCACCTAATGAAGGCTCCCTTCCCTGATGAGTCAGGAAGGATGTGAGGAGCAGGGGTGGCCCTAGGCCTCTGGGAGTGGGGTGATAGGGCTGTTGCCCTCACCCTGCCTCTGGCTGACCCAGGACTCTGACTACGTGGTCGCTGTGAGGAACTTCCTGCCTGAGGACCCTGCGCTGCTGGCTTTCCACAAGGGTGACATCATACACCTGCAGCCCCTAGAGCCACCTCGAGTGGGTCAGTGCCACTGGGGTGGGCTGGGGGCAGGAGGGGGAGGCTGGCCAAGGGGGCCTCCCTGGCAGATGCTGACCCGAGCCTGGCCCATAGGCTACAGTGCTGGCTGCGTGGTTCGCAGGAAGGTGGTGTACCTGGAGGAGCTGCGACGTAGAGGCCCCGACTTTGGTGTGTGCCCCAGAACCTGGAACCCCATACGGGGCGCATCCTAGTTTCACCCACTCGTGGTGCAGATGCACAGTGAGGGTTTCTTGGTGCCCGAAAGTGGCCTGGGCTGGTCAGGTCTCCTAAGGTCCAGCCGTGGCCTGTCAGTATCTGTTGGTGGCCAGACAGCCCAGCCCTCTGCTTTGCCTGAGGGGTCTCCGTGGGCATTTCCATGTTTGTGGCCTGAATCTCTCTTTATGTCTCCACATGACCTGAGAGTCCACAAACCCTGCTTTGCCTTTTTGCTTCACTTCCCCTTTATGGTCCTGTGGCCCTGAGAAAATCCCTTTCTTTCCCTGAGCCTGTTTCCTCATCTGTAAAATGGGTTTGATGGCCTGGCCTGCCTCATAGAGTTCCAGAGAAGGGTTAAGAATGTTCCCAAATCTCCCTAAAGGACCCCCTTAGTCACAAGACAAGACCCTCCTGTTTGCCTCAGACCTTTTACCCACCCCTAGGCTGGAGGTTCGGGACCATCCACGGGCGCGTGGGCCGCTTCCCTTCGGAGCTGGTGCAGCCCGCTGCTGCCCCCGACTTCCTGCAGCTGCCAACGGAGCCAGGCCGCGGCCGAGCAGCCGCCGTGGCCGCTGCTGTGGCCTCTGCAGCCGCTGCACAGGAGGTGGGCCGCAGGAGAGAGGTGAGACCAGTGTGGGTGGGGTGGGGCGGGGTAGACCAGGGGGAAGGGGCCGCTGCAGAAGGGGTGAGGCGAGTGGGGATAAGGTGGGCCAAGGGCCTGGCCAGGCTCTTGGGGCGTGGCTGATCTTGGACTAGTGTGAGGGTGAACCAGGTAGAGTGAGCCGCAGGTGAGACCCGGGAGATGGGACCAGAGATGGTTGGAGGTGTGGCCAAATGGGGTAGGGAAGGATGAAGATCAGCTGGTTGTAATCAGGACAATGGGGTCAGACCAGCCGGGGCCCGCCAGTTGGTGAAGTCTACTGGGTTTGGGGCGGTGCCAGGTGAGTGGGCGGCTTGTGGAGCTAGCGAGG
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Task1_train_23867
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A variant on Chromosome 17 in gene LOC130060418, MYO15A (ATAC-STARR-seq lymphoblastoid active region 11828| myosin XVA) 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 recessive nonsyndromic hearing loss 3
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TCCCTCATCGAACTCAGCGACAGCAGCCTCAGCAAGATGGCCACCGACATGTTCCTAGGTGTGGGAGTGGGACTGCAGCCAGGGCTCTGGGCTAGGTGGGATCCAGCACTGTGTGATCTCTACTGGTTGCCACTCCTCCCTGATCTTCAGATTCTTTCCCTCCCGCCAGCTCAGACATGGAACACATTTAAGAGAATAGAAGCTCCCAGCTGCCTGTGGCCAAGGCTCCCAGGGAGGGGCTCAGCCCTGGGGCTTCCTGGGGTGGGTGGGCAACTGGGGGTTTGGTGGGTCTGAGTGGGATAGGTCTTTCCTACAGCTGTAATGAGGTTCATGGGGGATGCCCCACTGAAGGGCCAGAGTGACCTGGACGTGCTTTGTAACCTCCTGAAGGTCAGTCCAGCCAACTTTGCCAGATGCCCCCTTTCCTGCTCTGTGGTTCAGTTTCCCCATCTATCAATGAGTCACAGGACATTAGGGTGGGAAACCTCTCCCATGGTCCAAAGAGGAATGCATCATGCTGGTGGGGAGGGGGCTGGGAAAGGGACACCAGGCCTGTCTTCAGGTGCCCACCCTGTTCTTATGTACCTGGTATATGACATAGCCCCTCACATGTCTTTGGTGTGTAACCTCCCTGCCCCCCTTCAGCTGTGCGGGGACCATGAGGTCATGCGGGATGAATGTTACTGCCAAGTTGTGAAGCAGATCACAGACAATACCAGCTCCAAGCAGTGAGTGAACTGGACTTTACCCCACCATCCCCTCACTGTGTCCATGCTCCAGGAGGGACCAGTTCAGCCTCCCACCTCCTCAGGCCTGACCCCTCCTGGATTATCTTCCTCTCACCCTCATCCTCACTCAATAGAGCACGTTTTTTGGAATTACTTGGTCTGGAACACACCATTTCTGCTCTCTGAACTTTAGTGCCCTCATCTGTAAAATGACAGTGATAATGTGTAAGTCCAGATTCTTAGTTGCAAGTGACAGAAACCCAACTCAATCTGGTTTAGCCAAAAGGGAACTTGTTGATTCAGAGAAGTGAAAAGTCAGTGAGTATGTGGCCTCAGGCATAGCTGGATCCAGGTGTCATCAGGAAGCAGGCTTTCTCCATCTTCTGGCTCTGCTTTCCTCTGTGTTGATCATTCCCAAACAGCCTCTCGCACAGAGTAGCAAGGTGGCAGGTCTGGGGCAACAGCTCAGCAATCCCAGAGAAAGCAAGACTGACCCAATATTTGCTGTAGAAATTCTTAAATCCAGCCTTACAGGCCTGAGTTGGTCACATGCTCAACCCTGAACCAACTATGCCTATCCCTGGGCCAATCACTGTGGCCAGGGGCTGCGGTGTTCACATTGACCAAACCTGACTTCCATGCCCATCTCCAAACCACAGGGATCCAGAGCGGGGTGGGTGGTTTCCCAAAGGAAGCCCAAGTGTTGTTCCCAGACACCAGATATCCCTACAAATGAAACCCTCACACCCAGGACCATGTGAAGATGAATTACTGTGTTCCACTCATGCAGGGCCAGCACACAGTACGTGCCCAATGTGTGCATGCTCTTGTTACCATCAGGTCCACCCTCCTGTCTCCATCTGTACTACCTCCTCACTTGCTCTCCATCTCCTCAGGATTTTTAGAACCACTCAGCTTGTCCTCCTGCTCCTCCCAGCCCTGGGCCTTACCTGGCATGACCTCTACACAGTCTCAGCAGCTTCCCCTTTTCCCAGAAGCCTCCCTAGAGAGATCCCCTACCTGTTGTGAGGCAGAGAAGAGAAGAATAGGAGAGGAAAGAGTCGCAGTGCTTCCCCTACCTGGGGAAGATGTCTGGGGCCCCATCCCCTTCTGTCCCTATCCCCAATCCTGACTTCCCAAGCAGAATATGCCTTTTGCATATCACTGCGCAGGGAGGGGCATCCTCAGGGGACAGGAGCTGCCTGAGAGTTGGAATCTGTCTCAGCTCAATCCCAGGAGGCTCTTGGCACACTCTAGTGCTGTGGCCACCTCTGCTGTAGCCCCCATGTGTCCTTGCAGGGACAGCTGCCAGCGAGGCTGGAGGCTGCTGTATATCGTGACCGCCTACCACAGCTGCTCTGAGGTCCTCCACCCACACCTCACTCGCTTCCTCCAAGACGTGAGCCGGACCCCAGGCCTGCCCTTTCAGGGTGAGAGGTCAATGAGTGGGAACCCAGGGCTGCATGCTTCTCCCTTGGGGACTGGGTGGACAGCTGGTGGGAGGGGAAACCCAGAGGGCCTCGCTCTTCACAGGTGCTGAGCAATGTTTACCAATATTAATATACTCCCCAAACATTTGTTAAGGTTTCACAGGGGCTGGCGTGGTGGTTTGTCTGATCTAATGGAGGGGGTGGTCAGGGATGACTCCTTGGAGGAAGTATTGCCCTGGGTAGGAGGGATTTCCAGGTGGAGTGAGTGACAGGAGCAAAGACAGGAGTGGGAATATGTGGTACGTGGGAGAAGAGAAGGAGGTGGGCAAGAATCCAGAGTACTGGGGTGCGGCCCTGCCTCTCTGACTGTTGGGACTCAGCAAGGGTCTTGAGGGATCTGGGCAGAGGTGGGCCCAAGCTGGTATCATCCCCCTTAGAATATGGAGAAAGGGGGGGCCACTCTTCAGCGTTGTTTCCATAGCAACCCCTGGGGCTCCCTAAGAAGGAGGCTGGGGCCCCTGTAGTCACCATGGCAGCCGTGGAGGAGATAGGAGACCTTACCCTTCCTGCCTCTGAATGCTTCTCTCTGATTCAATTAACAAACATTCAACCCACAGATGAATAGACCCAGCTCCCTATGGAAGAGCTCCCAGATGCATAAAAGCAGCAGAATGTGCCCTAGAACTCTTGACTCAAGAGAAATGGAGCACTGATGCTGGGGTCTCCTGCACTGGGAGGCCTGGGTGAGGGAGGGCAGCTGGCAGGGTATCCCAGCTGGCATGAGCAGAGCTGCATCACCCTAGCCACAGAGCCTGTGAGATACAAGCTCCCCAGTCAGCAGCTCAGGGTGACAGCGGTTTCCAGGCGTATAGGTTGCCAAGGGGACTATGGGCTAGATAAAAGGTCCTTAGCCACATGGGATGTGGGTTCAAATCCAGCTCTTAACCTCTAGCTCTTGACCTTGGGCAAGTCACTGTCCCTGTCTGAACTGTTTCCTCAACTGTCAAATGGGGGAGTAAATGCCTTCCCCACAGCTTGTGGAGAGAATGCAGTGGGCTCATGGTTGGTGGCAAGAGGAGCGAGCCCCTTTCTCCCACAGTCCACCTTGGGCGAGGCCTGAACTCCCTGCTTCTGCAGGGATCGCCAAGGCCTGCGAGCAGAACCTGCAGAAAACCTTGCGCTTCGGAGGTCGTCTGGAGCTCCCCAGCAGCATAGAGCTTCGGGCCATGTTGGTGAGCATAGGGTGGGAGTGGGTTCAAAATGAATGGGAGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCATGTCAAAAAACAAAAACAAACACACACAAAAAAATGAATGGGAGACACAAGCCCTGCCCAGAGACCTCTCTGTCAGGTGCATTGCACTCAGGGGCTTGCAGACAGGCCCTGCGCGGTCCAGGTGCTCAAGTGTTCCTACACGTGCCAGCCCAGGATCCTTTGGCTTGGGAACTCCCAGGGCAGGAGACAAGGGCTGTCCCAGATCCTAGGACCCAACCTGTCATCCCTCTCCCACCTATCTACCCCAGGCAGGCCGCAGTTCCAAGAGGCAACTCTTTCTTCTTCCTGGAGGCCTTGAACGCCATCTCAAAATCAAAACATGCACTGTAAGTGAAGAAATGTCTCCTGCAGCCAGGTACTGGAGGGGCAGGGACAAGGACAGCCCAGGCT
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TCCCTCATCGAACTCAGCGACAGCAGCCTCAGCAAGATGGCCACCGACATGTTCCTAGGTGTGGGAGTGGGACTGCAGCCAGGGCTCTGGGCTAGGTGGGATCCAGCACTGTGTGATCTCTACTGGTTGCCACTCCTCCCTGATCTTCAGATTCTTTCCCTCCCGCCAGCTCAGACATGGAACACATTTAAGAGAATAGAAGCTCCCAGCTGCCTGTGGCCAAGGCTCCCAGGGAGGGGCTCAGCCCTGGGGCTTCCTGGGGTGGGTGGGCAACTGGGGGTTTGGTGGGTCTGAGTGGGATAGGTCTTTCCTACAGCTGTAATGAGGTTCATGGGGGATGCCCCACTGAAGGGCCAGAGTGACCTGGACGTGCTTTGTAACCTCCTGAAGGTCAGTCCAGCCAACTTTGCCAGATGCCCCCTTTCCTGCTCTGTGGTTCAGTTTCCCCATCTATCAATGAGTCACAGGACATTAGGGTGGGAAACCTCTCCCATGGTCCAAAGAGGAATGCATCATGCTGGTGGGGAGGGGGCTGGGAAAGGGACACCAGGCCTGTCTTCAGGTGCCCACCCTGTTCTTATGTACCTGGTATATGACATAGCCCCTCACATGTCTTTGGTGTGTAACCTCCCTGCCCCCCTTCAGCTGTGCGGGGACCATGAGGTCATGCGGGATGAATGTTACTGCCAAGTTGTGAAGCAGATCACAGACAATACCAGCTCCAAGCAGTGAGTGAACTGGACTTTACCCCACCATCCCCTCACTGTGTCCATGCTCCAGGAGGGACCAGTTCAGCCTCCCACCTCCTCAGGCCTGACCCCTCCTGGATTATCTTCCTCTCACCCTCATCCTCACTCAATAGAGCACGTTTTTTGGAATTACTTGGTCTGGAACACACCATTTCTGCTCTCTGAACTTTAGTGCCCTCATCTGTAAAATGACAGTGATAATGTGTAAGTCCAGATTCTTAGTTGCAAGTGACAGAAACCCAACTCAATCTGGTTTAGCCAAAAGGGAACTTGTTGATTCAGAGAAGTGAAAAGTCAGTGAGTATGTGGCCTCAGGCATAGCTGGATCCAGGTGTCATCAGGAAGCAGGCTTTCTCCATCTTCTGGCTCTGCTTTCCTCTGTGTTGATCATTCCCAAACAGCCTCTCGCACAGAGTAGCAAGGTGGCAGGTCTGGGGCAACAGCTCAGCAATCCCAGAGAAAGCAAGACTGACCCAATATTTGCTGTAGAAATTCTTAAATCCAGCCTTACAGGCCTGAGTTGGTCACATGCTCAACCCTGAACCAACTATGCCTATCCCTGGGCCAATCACTGTGGCCAGGGGCTGCGGTGTTCACATTGACCAAACCTGACTTCCATGCCCATCTCCAAACCACAGGGATCCAGAGCGGGGTGGGTGGTTTCCCAAAGGAAGCCCAAGTGTTGTTCCCAGACACCAGATATCCCTACAAATGAAACCCTCACACCCAGGACCATGTGAAGATGAATTACTGTGTTCCACTCATGCAGGGCCAGCACACAGTACGTGCCCAATGTGTGCATGCTCTTGTTACCATCAGGTCCACCCTCCTGTCTCCATCTGTACTACCTCCTCACTTGCTCTCCATCTCCTCAGGATTTTTAGAACCACTCAGCTTGTCCTCCTGCTCCTCCCAGCCCTGGGCCTTACCTGGCATGACCTCTACACAGTCTCAGCAGCTTCCCCTTTTCCCAGAAGCCTCCCTAGAGAGATCCCCTACCTGTTGTGAGGCAGAGAAGAGAAGAATAGGAGAGGAAAGAGTCGCAGTGCTTCCCCTACCTGGGGAAGATGTCTGGGGCCCCATCCCCTTCTGTCCCTATCCCCAATCCTGACTTCCCAAGCAGAATATGCCTTTTGCATATCACTGCGCAGGGAGGGGCATCCTCAGGGGACAGGAGCTGCCTGAGAGTTGGAATCTGTCTCAGCTCAATCCCAGGAGGCTCTTGGCACACTCTAGTGCTGTGGCCACCTCTGCTGTAGCCCCCATGTGTCCTTGCAGGGACAGCTGCCAGCGAGGCTGCAGGCTGCTGTATATCGTGACCGCCTACCACAGCTGCTCTGAGGTCCTCCACCCACACCTCACTCGCTTCCTCCAAGACGTGAGCCGGACCCCAGGCCTGCCCTTTCAGGGTGAGAGGTCAATGAGTGGGAACCCAGGGCTGCATGCTTCTCCCTTGGGGACTGGGTGGACAGCTGGTGGGAGGGGAAACCCAGAGGGCCTCGCTCTTCACAGGTGCTGAGCAATGTTTACCAATATTAATATACTCCCCAAACATTTGTTAAGGTTTCACAGGGGCTGGCGTGGTGGTTTGTCTGATCTAATGGAGGGGGTGGTCAGGGATGACTCCTTGGAGGAAGTATTGCCCTGGGTAGGAGGGATTTCCAGGTGGAGTGAGTGACAGGAGCAAAGACAGGAGTGGGAATATGTGGTACGTGGGAGAAGAGAAGGAGGTGGGCAAGAATCCAGAGTACTGGGGTGCGGCCCTGCCTCTCTGACTGTTGGGACTCAGCAAGGGTCTTGAGGGATCTGGGCAGAGGTGGGCCCAAGCTGGTATCATCCCCCTTAGAATATGGAGAAAGGGGGGGCCACTCTTCAGCGTTGTTTCCATAGCAACCCCTGGGGCTCCCTAAGAAGGAGGCTGGGGCCCCTGTAGTCACCATGGCAGCCGTGGAGGAGATAGGAGACCTTACCCTTCCTGCCTCTGAATGCTTCTCTCTGATTCAATTAACAAACATTCAACCCACAGATGAATAGACCCAGCTCCCTATGGAAGAGCTCCCAGATGCATAAAAGCAGCAGAATGTGCCCTAGAACTCTTGACTCAAGAGAAATGGAGCACTGATGCTGGGGTCTCCTGCACTGGGAGGCCTGGGTGAGGGAGGGCAGCTGGCAGGGTATCCCAGCTGGCATGAGCAGAGCTGCATCACCCTAGCCACAGAGCCTGTGAGATACAAGCTCCCCAGTCAGCAGCTCAGGGTGACAGCGGTTTCCAGGCGTATAGGTTGCCAAGGGGACTATGGGCTAGATAAAAGGTCCTTAGCCACATGGGATGTGGGTTCAAATCCAGCTCTTAACCTCTAGCTCTTGACCTTGGGCAAGTCACTGTCCCTGTCTGAACTGTTTCCTCAACTGTCAAATGGGGGAGTAAATGCCTTCCCCACAGCTTGTGGAGAGAATGCAGTGGGCTCATGGTTGGTGGCAAGAGGAGCGAGCCCCTTTCTCCCACAGTCCACCTTGGGCGAGGCCTGAACTCCCTGCTTCTGCAGGGATCGCCAAGGCCTGCGAGCAGAACCTGCAGAAAACCTTGCGCTTCGGAGGTCGTCTGGAGCTCCCCAGCAGCATAGAGCTTCGGGCCATGTTGGTGAGCATAGGGTGGGAGTGGGTTCAAAATGAATGGGAGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCATGTCAAAAAACAAAAACAAACACACACAAAAAAATGAATGGGAGACACAAGCCCTGCCCAGAGACCTCTCTGTCAGGTGCATTGCACTCAGGGGCTTGCAGACAGGCCCTGCGCGGTCCAGGTGCTCAAGTGTTCCTACACGTGCCAGCCCAGGATCCTTTGGCTTGGGAACTCCCAGGGCAGGAGACAAGGGCTGTCCCAGATCCTAGGACCCAACCTGTCATCCCTCTCCCACCTATCTACCCCAGGCAGGCCGCAGTTCCAAGAGGCAACTCTTTCTTCTTCCTGGAGGCCTTGAACGCCATCTCAAAATCAAAACATGCACTGTAAGTGAAGAAATGTCTCCTGCAGCCAGGTACTGGAGGGGCAGGGACAAGGACAGCCCAGGCT
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Task1_train_23868
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A sequence alteration has been identified in MYO15A (myosin XVA) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 3
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CCTATCCCTGGGCCAATCACTGTGGCCAGGGGCTGCGGTGTTCACATTGACCAAACCTGACTTCCATGCCCATCTCCAAACCACAGGGATCCAGAGCGGGGTGGGTGGTTTCCCAAAGGAAGCCCAAGTGTTGTTCCCAGACACCAGATATCCCTACAAATGAAACCCTCACACCCAGGACCATGTGAAGATGAATTACTGTGTTCCACTCATGCAGGGCCAGCACACAGTACGTGCCCAATGTGTGCATGCTCTTGTTACCATCAGGTCCACCCTCCTGTCTCCATCTGTACTACCTCCTCACTTGCTCTCCATCTCCTCAGGATTTTTAGAACCACTCAGCTTGTCCTCCTGCTCCTCCCAGCCCTGGGCCTTACCTGGCATGACCTCTACACAGTCTCAGCAGCTTCCCCTTTTCCCAGAAGCCTCCCTAGAGAGATCCCCTACCTGTTGTGAGGCAGAGAAGAGAAGAATAGGAGAGGAAAGAGTCGCAGTGCTTCCCCTACCTGGGGAAGATGTCTGGGGCCCCATCCCCTTCTGTCCCTATCCCCAATCCTGACTTCCCAAGCAGAATATGCCTTTTGCATATCACTGCGCAGGGAGGGGCATCCTCAGGGGACAGGAGCTGCCTGAGAGTTGGAATCTGTCTCAGCTCAATCCCAGGAGGCTCTTGGCACACTCTAGTGCTGTGGCCACCTCTGCTGTAGCCCCCATGTGTCCTTGCAGGGACAGCTGCCAGCGAGGCTGGAGGCTGCTGTATATCGTGACCGCCTACCACAGCTGCTCTGAGGTCCTCCACCCACACCTCACTCGCTTCCTCCAAGACGTGAGCCGGACCCCAGGCCTGCCCTTTCAGGGTGAGAGGTCAATGAGTGGGAACCCAGGGCTGCATGCTTCTCCCTTGGGGACTGGGTGGACAGCTGGTGGGAGGGGAAACCCAGAGGGCCTCGCTCTTCACAGGTGCTGAGCAATGTTTACCAATATTAATATACTCCCCAAACATTTGTTAAGGTTTCACAGGGGCTGGCGTGGTGGTTTGTCTGATCTAATGGAGGGGGTGGTCAGGGATGACTCCTTGGAGGAAGTATTGCCCTGGGTAGGAGGGATTTCCAGGTGGAGTGAGTGACAGGAGCAAAGACAGGAGTGGGAATATGTGGTACGTGGGAGAAGAGAAGGAGGTGGGCAAGAATCCAGAGTACTGGGGTGCGGCCCTGCCTCTCTGACTGTTGGGACTCAGCAAGGGTCTTGAGGGATCTGGGCAGAGGTGGGCCCAAGCTGGTATCATCCCCCTTAGAATATGGAGAAAGGGGGGGCCACTCTTCAGCGTTGTTTCCATAGCAACCCCTGGGGCTCCCTAAGAAGGAGGCTGGGGCCCCTGTAGTCACCATGGCAGCCGTGGAGGAGATAGGAGACCTTACCCTTCCTGCCTCTGAATGCTTCTCTCTGATTCAATTAACAAACATTCAACCCACAGATGAATAGACCCAGCTCCCTATGGAAGAGCTCCCAGATGCATAAAAGCAGCAGAATGTGCCCTAGAACTCTTGACTCAAGAGAAATGGAGCACTGATGCTGGGGTCTCCTGCACTGGGAGGCCTGGGTGAGGGAGGGCAGCTGGCAGGGTATCCCAGCTGGCATGAGCAGAGCTGCATCACCCTAGCCACAGAGCCTGTGAGATACAAGCTCCCCAGTCAGCAGCTCAGGGTGACAGCGGTTTCCAGGCGTATAGGTTGCCAAGGGGACTATGGGCTAGATAAAAGGTCCTTAGCCACATGGGATGTGGGTTCAAATCCAGCTCTTAACCTCTAGCTCTTGACCTTGGGCAAGTCACTGTCCCTGTCTGAACTGTTTCCTCAACTGTCAAATGGGGGAGTAAATGCCTTCCCCACAGCTTGTGGAGAGAATGCAGTGGGCTCATGGTTGGTGGCAAGAGGAGCGAGCCCCTTTCTCCCACAGTCCACCTTGGGCGAGGCCTGAACTCCCTGCTTCTGCAGGGATCGCCAAGGCCTGCGAGCAGAACCTGCAGAAAACCTTGCGCTTCGGAGGTCGTCTGGAGCTCCCCAGCAGCATAGAGCTTCGGGCCATGTTGGTGAGCATAGGGTGGGAGTGGGTTCAAAATGAATGGGAGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCATGTCAAAAAACAAAAACAAACACACACAAAAAAATGAATGGGAGACACAAGCCCTGCCCAGAGACCTCTCTGTCAGGTGCATTGCACTCAGGGGCTTGCAGACAGGCCCTGCGCGGTCCAGGTGCTCAAGTGTTCCTACACGTGCCAGCCCAGGATCCTTTGGCTTGGGAACTCCCAGGGCAGGAGACAAGGGCTGTCCCAGATCCTAGGACCCAACCTGTCATCCCTCTCCCACCTATCTACCCCAGGCAGGCCGCAGTTCCAAGAGGCAACTCTTTCTTCTTCCTGGAGGCCTTGAACGCCATCTCAAAATCAAAACATGCACTGTAAGTGAAGAAATGTCTCCTGCAGCCAGGTACTGGAGGGGCAGGGACAAGGACAGCCCAGGCTCCAGGATGGGGGTGGAGTAAGCCCCCAATGATGCTGAGCCCTCCCAGGCTCTCCCACAGCCCCACAAGGCAGGACTTATTTCTCAGAAGAGCAAACTGCACCTCAGAGAGGTTAAGCCTCTGGCTCAGGGTCATCCTGCAAAAAAGGGACAGAAGCAGATTTTAAACCTAAGTCTCAGACCACAAGCTGTGTTCTTTCCCTGCCTGAGGCTGATTCTCAGAGACCTCAGAGGATTGTGCGCCTTTGTGAAGAGGGCTGAGGAACTCCACACATGGCCTCTGGGGGCCTGAGTGGGGCCAGAAGGACAGAGGTCAAGCCCAACTGGCATGGCCTCATCTCTTCCGCCCCACCCCCAGGTGGCCCTGGACGTGGTGGAAGAGATATGTGCTGAGATGGCTCTGACACGCCCTGAGGCCTTCAATGAATATGTTATCTTCGTTGTCACCAACCGTGGTGAGTGCCAGGAAGACTGAGCATGCTGGGCCCATTCCCATCCCCGGGCCTTGTGCCATGTGGGGCCCTCCACCCAGATTTTAGGGCCCAAGTCAGGTGCCACTTCCTCCAGGAAGCCCCTTGACCCCCATGTGGAAGGATCTCTGTGTGTACCAAGCACGCCCAGCCCTTTATCTGTCCCTTTCTGCTTTGCTTAGTTTGCCTCACCTTATGATGAGAGCCCTCTCTCATCCCTCCCTTTGTCCCTCAGGACATGCTCAATGTGAGGACACAGGCCGTGCCCTCAAGGAGATTACATCCTGGAAAGGTTTCCATTAATAGCGCCGCATATTATGGAACCTATAGGAACCTATAGGTGCAAGCCTTCTTTCCTGCCTTTCATGCCTTAATAATGGCCAGAGAAGCCCCTCCCGAGGTGTCACTAGCCCCTCTCGAGGGCTCCTGGGACCCTAGGTGACCGTCATGCATCCCAAAGCCCCTTCCATCTGCTGACTGCCCACTCTAGATCATGGTCTTCCCTCCTGTCACCAGCTGGTCAGCTCCAGCAACCCCCAGCCAGCTCTCCCTACTGCTGCCTCAGTCCTCAGCCATGTGCCATCAGCCCTGCCTGCCCAAGTCCAGCTAAGACATTAGGGGAGAATGGCAGGTAACAAAACGGTCCTAATAACTGATATTTATTGAACGGATGCTGTGCCCCAGGTATAATTCAAAGCATTTCAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCTCTTGAGGCCAGGAGTTTCAGGGCAGCCTGGCCAACATGGCGAAGCCCCATCTCTACTAAAAATTAG
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CCTATCCCTGGGCCAATCACTGTGGCCAGGGGCTGCGGTGTTCACATTGACCAAACCTGACTTCCATGCCCATCTCCAAACCACAGGGATCCAGAGCGGGGTGGGTGGTTTCCCAAAGGAAGCCCAAGTGTTGTTCCCAGACACCAGATATCCCTACAAATGAAACCCTCACACCCAGGACCATGTGAAGATGAATTACTGTGTTCCACTCATGCAGGGCCAGCACACAGTACGTGCCCAATGTGTGCATGCTCTTGTTACCATCAGGTCCACCCTCCTGTCTCCATCTGTACTACCTCCTCACTTGCTCTCCATCTCCTCAGGATTTTTAGAACCACTCAGCTTGTCCTCCTGCTCCTCCCAGCCCTGGGCCTTACCTGGCATGACCTCTACACAGTCTCAGCAGCTTCCCCTTTTCCCAGAAGCCTCCCTAGAGAGATCCCCTACCTGTTGTGAGGCAGAGAAGAGAAGAATAGGAGAGGAAAGAGTCGCAGTGCTTCCCCTACCTGGGGAAGATGTCTGGGGCCCCATCCCCTTCTGTCCCTATCCCCAATCCTGACTTCCCAAGCAGAATATGCCTTTTGCATATCACTGCGCAGGGAGGGGCATCCTCAGGGGACAGGAGCTGCCTGAGAGTTGGAATCTGTCTCAGCTCAATCCCAGGAGGCTCTTGGCACACTCTAGTGCTGTGGCCACCTCTGCTGTAGCCCCCATGTGTCCTTGCAGGGACAGCTGCCAGCGAGGCTGGAGGCTGCTGTATATCGTGACCGCCTACCACAGCTGCTCTGAGGTCCTCCACCCACACCTCACTCGCTTCCTCCAAGACGTGAGCCGGACCCCAGGCCTGCCCTTTCAGGGTGAGAGGTCAATGAGTGGGAACCCAGGGCTGCATGCTTCTCCCTTGGGGACTGGGTGGACAGCTGGTGGGAGGGGAAACCCAGAGGGCCTCGCTCTTCACAGGTGCTGAGCAATGTTTACCAATATTAATATACTCCCCAAACATTTGTTAAGGTTTCACAGGGGCTGGCGTGGTGGTTTGTCTGATCTAATGGAGGGGGTGGTCAGGGATGACTCCTTGGAGGAAGTATTGCCCTGGGTAGGAGGGATTTCCAGGTGGAGTGAGTGACAGGAGCAAAGACAGGAGTGGGAATATGTGGTACGTGGGAGAAGAGAAGGAGGTGGGCAAGAATCCAGAGTACTGGGGTGCGGCCCTGCCTCTCTGACTGTTGGGACTCAGCAAGGGTCTTGAGGGATCTGGGCAGAGGTGGGCCCAAGCTGGTATCATCCCCCTTAGAATATGGAGAAAGGGGGGGCCACTCTTCAGCGTTGTTTCCATAGCAACCCCTGGGGCTCCCTAAGAAGGAGGCTGGGGCCCCTGTAGTCACCATGGCAGCCGTGGAGGAGATAGGAGACCTTACCCTTCCTGCCTCTGAATGCTTCTCTCTGATTCAATTAACAAACATTCAACCCACAGATGAATAGACCCAGCTCCCTATGGAAGAGCTCCCAGATGCATAAAAGCAGCAGAATGTGCCCTAGAACTCTTGACTCAAGAGAAATGGAGCACTGATGCTGGGGTCTCCTGCACTGGGAGGCCTGGGTGAGGGAGGGCAGCTGGCAGGGTATCCCAGCTGGCATGAGCAGAGCTGCATCACCCTAGCCACAGAGCCTGTGAGATACAAGCTCCCCAGTCAGCAGCTCAGGGTGACAGCGGTTTCCAGGCGTATAGGTTGCCAAGGGGACTATGGGCTAGATAAAAGGTCCTTAGCCACATGGGATGTGGGTTCAAATCCAGCTCTTAACCTCTAGCTCTTGACCTTGGGCAAGTCACTGTCCCTGTCTGAACTGTTTCCTCAACTGTCAAATGGGGGAGTAAATGCCTTCCCCACAGCTTGTGGAGAGAATGCAGTGGGCTCATGGTTGGTGGCAAGAGGAGCGAGCCCCTTTCTCCCACAGTCCACCTTGGGCGAGGCCTGAACTCCCTGCTTCTGCAGGGATCGCCAAGGCCTGCGAGCAGAACCTGCAGAAAACCTTGCGCTTCGGAGGTCATCTGGAGCTCCCCAGCAGCATAGAGCTTCGGGCCATGTTGGTGAGCATAGGGTGGGAGTGGGTTCAAAATGAATGGGAGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCATGTCAAAAAACAAAAACAAACACACACAAAAAAATGAATGGGAGACACAAGCCCTGCCCAGAGACCTCTCTGTCAGGTGCATTGCACTCAGGGGCTTGCAGACAGGCCCTGCGCGGTCCAGGTGCTCAAGTGTTCCTACACGTGCCAGCCCAGGATCCTTTGGCTTGGGAACTCCCAGGGCAGGAGACAAGGGCTGTCCCAGATCCTAGGACCCAACCTGTCATCCCTCTCCCACCTATCTACCCCAGGCAGGCCGCAGTTCCAAGAGGCAACTCTTTCTTCTTCCTGGAGGCCTTGAACGCCATCTCAAAATCAAAACATGCACTGTAAGTGAAGAAATGTCTCCTGCAGCCAGGTACTGGAGGGGCAGGGACAAGGACAGCCCAGGCTCCAGGATGGGGGTGGAGTAAGCCCCCAATGATGCTGAGCCCTCCCAGGCTCTCCCACAGCCCCACAAGGCAGGACTTATTTCTCAGAAGAGCAAACTGCACCTCAGAGAGGTTAAGCCTCTGGCTCAGGGTCATCCTGCAAAAAAGGGACAGAAGCAGATTTTAAACCTAAGTCTCAGACCACAAGCTGTGTTCTTTCCCTGCCTGAGGCTGATTCTCAGAGACCTCAGAGGATTGTGCGCCTTTGTGAAGAGGGCTGAGGAACTCCACACATGGCCTCTGGGGGCCTGAGTGGGGCCAGAAGGACAGAGGTCAAGCCCAACTGGCATGGCCTCATCTCTTCCGCCCCACCCCCAGGTGGCCCTGGACGTGGTGGAAGAGATATGTGCTGAGATGGCTCTGACACGCCCTGAGGCCTTCAATGAATATGTTATCTTCGTTGTCACCAACCGTGGTGAGTGCCAGGAAGACTGAGCATGCTGGGCCCATTCCCATCCCCGGGCCTTGTGCCATGTGGGGCCCTCCACCCAGATTTTAGGGCCCAAGTCAGGTGCCACTTCCTCCAGGAAGCCCCTTGACCCCCATGTGGAAGGATCTCTGTGTGTACCAAGCACGCCCAGCCCTTTATCTGTCCCTTTCTGCTTTGCTTAGTTTGCCTCACCTTATGATGAGAGCCCTCTCTCATCCCTCCCTTTGTCCCTCAGGACATGCTCAATGTGAGGACACAGGCCGTGCCCTCAAGGAGATTACATCCTGGAAAGGTTTCCATTAATAGCGCCGCATATTATGGAACCTATAGGAACCTATAGGTGCAAGCCTTCTTTCCTGCCTTTCATGCCTTAATAATGGCCAGAGAAGCCCCTCCCGAGGTGTCACTAGCCCCTCTCGAGGGCTCCTGGGACCCTAGGTGACCGTCATGCATCCCAAAGCCCCTTCCATCTGCTGACTGCCCACTCTAGATCATGGTCTTCCCTCCTGTCACCAGCTGGTCAGCTCCAGCAACCCCCAGCCAGCTCTCCCTACTGCTGCCTCAGTCCTCAGCCATGTGCCATCAGCCCTGCCTGCCCAAGTCCAGCTAAGACATTAGGGGAGAATGGCAGGTAACAAAACGGTCCTAATAACTGATATTTATTGAACGGATGCTGTGCCCCAGGTATAATTCAAAGCATTTCAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCTCTTGAGGCCAGGAGTTTCAGGGCAGCCTGGCCAACATGGCGAAGCCCCATCTCTACTAAAAATTAG
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Task1_train_23869
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This sequence variant lies in TOP3A (DNA topoisomerase III alpha) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; not provided
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TCTAACAAGGGGTGAGATGGGGGCTACGCGCTAATAATTTACAATACTTAGGATTATTTTTTGATAGGGTCTCACTTTCTCACCAGGCTGGAGTGTGGTGGTGTGATTACGGCTCACTGCAGCCTCAACCTCCTGCCTCCTGGGATCAAGTAATCCTCCTTCCTCAGCCTTACTAGTAGCTGGGACTATAGGCATACATCACCATGCCTGGTTAAATTTTTTTTTTTTTTTGAGAGATAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAATTCCTGGAGTTCATGTGATCCTGCCTTGGCCCCACAAATTGCTGGGATTACAGGCATAAACCACCATGTCCAGCCTTTATTCCTAGGATTTAAACAACTACCATTCATAAAAAAAGTTTACTTCAGTCCCTTGGCCACTTAGCCACATTTATACAATGGGTGGGAACCAGCTTTTTAAATCATGGTAGTGACTTTGGTGGAAAACCTTATCTCCAAATGCCAATGCATTAAAAACAAAGAAATCACTCTGTTTGACTCTGTGGTTTGACTCAGTGCCATATGTCTTCCAAAAGACCCTACCTTGATGTCTACAAAATTCTCTGGGCAGTACTTTTCAATTTCTGCTTCAAAGAGGACAAGAGGGTTGCAGCTCTGCCTAGAAAAGAAATGAAAACAGAGTCCCAACTCAGTACATGACAGAGAGCCCTCCAATCTAATGACAGCAAACTGTTCCAATGGGTTCATGGTGTATCCCCAAAAGAAAAGGTCCCGGTGAATTGAAAGTAAGGCTATGACCCTCTGCATGACACACTGTCCACTTCTCCAAGAGTGTGAACAGGACTGATAAGATGGCATTCTGGAGCCCTTTCACAGGTAAATGCAATCCAATGGCTGCATGAAAAAGGTCTGGCAATTTTGAGGAACACCAAAAGTGACTGTTTAAAGATTTAATAAAAATTCACAATGGATCAGATAATCCTAGGTCATCTTAGTATTATAAATTACTGCTGGGCGTGGTAGCTCACGCCTGTAATCCCAGCACGTTGGGAGGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACTAGCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACGAAAAATTAGCCAAGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACAATGAGTCAAGATTGTGCCACTGCACTCCAGCCTAGGCGACAGAATAAAACTCCGTCTCAAAAAATAAATAAAATAAATAAATAAATAAATAAATTACCAAGGCACAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCAAAAGAAGGCAAACCCTGCTTTGTTTAAGACCAGCCTGGGCAACAGGGTGAAACTCCATCTCTACTAAAATAGAAAAAATTAGCTGGGTGTAGTGGCACATGGCTGTAAGGCCAGTTACTTGGGAAACTGAGGCATGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGACGAGATTGCGCCACTGCACTCCAGCCTGGGTAACGCAGCGAGACCCTGACTCAAAAAAAAAAAAAAAAAAAAACCGGGCATGGTGGCTCACGGTCTGTAATCCCAGCACTTCAGGAGGCTGAGGTGGGCAGACCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGTGTGGTGGCACGTGCCTATAGTCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCACTCGAACCCAGGAGGCAGAGGTTGCTGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGAGACAGAGTCTCACTCTGAAACTTTGTCTCCAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTACCCAGTAAGATCAACATGCCTCAAAATTCCTGTGAAATTTCACAACTTACTATAATCTGAAAGTCCTTCCCTTGAGAATTGTACTGACCATTTTCGAAACTGCATCTGGAAATCATGAGCCAGTAAATGTCCAGAAACTGAAGTCATTACCATGGTAACATTCTGAATGATGACAAAATTCAAAATTCAGTTAGTCTTTTTGCAGTTATTATTCTGCCAAATCATTAAAATGAGAGGGAGGAGCTTCTATTAAAGACATTTTTAAAAACCTGATTGGGAAGAAATAAACATAAATATAAGCTCTTCAAAGCCAAAAGTCACAGGAATACAATCACCATTCTAATGATATGGTGTATAACTGACGCCTCTTGCATCAGTTAAATTTTCCTCAAACTATTGTATATTAGCTTTTTTTTTTTGTAATGAAGAGCTGAGATGGGACCATATTTTATTAAAAAGAGAACTCCTCATAAATTATAAAGTGATCACCCCATATCCAGGAACCTTTAGGTTGTTAACAGTTGTTATTCTTAAGACAGCGACATATTCTACATATGACGAGGCTGACTACTTTCTCTTGCTTATGATTGAAATATTTTAGAAATATTTTAGCACCTACCTGGCCATACAGATGATAATCAAATTCATAGATCTTGTTGAATTTTGAAAGTCCTTCTCTCTATAAAACAAAAATAAGTAAAAAATATAAATTACGTTTAAAACAATGGATTCCTTTGTATAATTCTTTCTGATCCTGAATTTGGCAATGATTTCTTGGTTATGATACCAAAAATATAACCAACATTGCTCCAAAGAAGATAAGAAATGGCCAACAAGCATATGAAAAGATGCTCAATGTTATTAATCATTAGGAAAACACAAATCAAAACCATGATGAGGTACCACTCCATACCCATTAGGATAATAATTAAATAGAATAATAAAAAAAACAAGTAAAATAACAAGTGTTGTTGAGGATGTGGAGAAATTGGACATTGTCAGTGGAAATGTAAAATGCTTTGGCCACTCTGGAAAATGTTGGTGTTTCCTCAAAAAGTTACAGAGTTATCACATGTCACAGCAATTCCACTCCTACAAATTTACCCAAAAGAATTAAAAACGCATTCAAATACACTTTGGGAGGCTGAGACAGTTGGATCACTTTAGGTCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAACAATTGGCCAGGTGTGGTGGTGTGTGCCTGTAATCCCAGTTACTTGGGGAGGCTGAGGCAGGAGAATCACTTGAGCCCAGGAGGTGGACGTTGCAGTGAGTGGAGATGGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAACAAAAAACAAACAAAAAAACACATTCAAACAAAAACTTGTACATGAAAGTCTATAGAAGTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTCCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGAATGTTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCGAATGTCTATAGAAGTTCTATTCACAATAGTCAAAAGATGAAAACAACCCAAATGTCCATCAACTGATGTATGGTAAAATGAAATATGATCTATCCATATGATAGAATATTATTCAGCCATAAAAAGGAATGAAGAGGCCAGGTGCAATGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGTGGTTACAATGAGCCGAGATCTCATCACTGCACTCCAGCCTGAGCGACAGTGAGA
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TCTAACAAGGGGTGAGATGGGGGCTACGCGCTAATAATTTACAATACTTAGGATTATTTTTTGATAGGGTCTCACTTTCTCACCAGGCTGGAGTGTGGTGGTGTGATTACGGCTCACTGCAGCCTCAACCTCCTGCCTCCTGGGATCAAGTAATCCTCCTTCCTCAGCCTTACTAGTAGCTGGGACTATAGGCATACATCACCATGCCTGGTTAAATTTTTTTTTTTTTTTGAGAGATAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAATTCCTGGAGTTCATGTGATCCTGCCTTGGCCCCACAAATTGCTGGGATTACAGGCATAAACCACCATGTCCAGCCTTTATTCCTAGGATTTAAACAACTACCATTCATAAAAAAAGTTTACTTCAGTCCCTTGGCCACTTAGCCACATTTATACAATGGGTGGGAACCAGCTTTTTAAATCATGGTAGTGACTTTGGTGGAAAACCTTATCTCCAAATGCCAATGCATTAAAAACAAAGAAATCACTCTGTTTGACTCTGTGGTTTGACTCAGTGCCATATGTCTTCCAAAAGACCCTACCTTGATGTCTACAAAATTCTCTGGGCAGTACTTTTCAATTTCTGCTTCAAAGAGGACAAGAGGGTTGCAGCTCTGCCTAGAAAAGAAATGAAAACAGAGTCCCAACTCAGTACATGACAGAGAGCCCTCCAATCTAATGACAGCAAACTGTTCCAATGGGTTCATGGTGTATCCCCAAAAGAAAAGGTCCCGGTGAATTGAAAGTAAGGCTATGACCCTCTGCATGACACACTGTCCACTTCTCCAAGAGTGTGAACAGGACTGATAAGATGGCATTCTGGAGCCCTTTCACAGGTAAATGCAATCCAATGGCTGCATGAAAAAGGTCTGGCAATTTTGAGGAACACCAAAAGTGACTGTTTAAAGATTTAATAAAAATTCACAATGGATCAGATAATCCTAGGTCATCTTAGTATTATAAATTACTGCTGGGCGTGGTAGCTCACGCCTGTAATCCCAGCACGTTGGGAGGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACTAGCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACGAAAAATTAGCCAAGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACAATGAGTCAAGATTGTGCCACTGCACTCCAGCCTAGGCGACAGAATAAAACTCCGTCTCAAAAAATAAATAAAATAAATAAATAAATAAATAAATTACCAAGGCACAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCAAAAGAAGGCAAACCCTGCTTTGTTTAAGACCAGCCTGGGCAACAGGGTGAAACTCCATCTCTACTAAAATAGAAAAAATTAGCTGGGTGTAGTGGCACATGGCTGTAAGGCCAGTTACTTGGGAAACTGAGGCATGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGACGAGATTGCGCCACTGCACTCCAGCCTGGGTAACGCAGCGAGACCCTGACTCAAAAAAAAAAAAAAAAAAAAACCGGGCATGGTGGCTCACGGTCTGTAATCCCAGCACTTCAGGAGGCTGAGGTGGGCAGACCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGTGTGGTGGCACGTGCCTATAGTCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCACTCGAACCCAGGAGGCAGAGGTTGCTGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGAGACAGAGTCTCACTCTGAAACTTTGTCTCCAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTACCCAGTAAGATCAACATGCCTCAAAATTCCTGTGAAATTTCACAACTTACTATAATCTGAAAGTCCTTCCCTTGAGAATTGTACTGACCATTTTCGAAACTGCACCTGGAAATCATGAGCCAGTAAATGTCCAGAAACTGAAGTCATTACCATGGTAACATTCTGAATGATGACAAAATTCAAAATTCAGTTAGTCTTTTTGCAGTTATTATTCTGCCAAATCATTAAAATGAGAGGGAGGAGCTTCTATTAAAGACATTTTTAAAAACCTGATTGGGAAGAAATAAACATAAATATAAGCTCTTCAAAGCCAAAAGTCACAGGAATACAATCACCATTCTAATGATATGGTGTATAACTGACGCCTCTTGCATCAGTTAAATTTTCCTCAAACTATTGTATATTAGCTTTTTTTTTTTGTAATGAAGAGCTGAGATGGGACCATATTTTATTAAAAAGAGAACTCCTCATAAATTATAAAGTGATCACCCCATATCCAGGAACCTTTAGGTTGTTAACAGTTGTTATTCTTAAGACAGCGACATATTCTACATATGACGAGGCTGACTACTTTCTCTTGCTTATGATTGAAATATTTTAGAAATATTTTAGCACCTACCTGGCCATACAGATGATAATCAAATTCATAGATCTTGTTGAATTTTGAAAGTCCTTCTCTCTATAAAACAAAAATAAGTAAAAAATATAAATTACGTTTAAAACAATGGATTCCTTTGTATAATTCTTTCTGATCCTGAATTTGGCAATGATTTCTTGGTTATGATACCAAAAATATAACCAACATTGCTCCAAAGAAGATAAGAAATGGCCAACAAGCATATGAAAAGATGCTCAATGTTATTAATCATTAGGAAAACACAAATCAAAACCATGATGAGGTACCACTCCATACCCATTAGGATAATAATTAAATAGAATAATAAAAAAAACAAGTAAAATAACAAGTGTTGTTGAGGATGTGGAGAAATTGGACATTGTCAGTGGAAATGTAAAATGCTTTGGCCACTCTGGAAAATGTTGGTGTTTCCTCAAAAAGTTACAGAGTTATCACATGTCACAGCAATTCCACTCCTACAAATTTACCCAAAAGAATTAAAAACGCATTCAAATACACTTTGGGAGGCTGAGACAGTTGGATCACTTTAGGTCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAACAATTGGCCAGGTGTGGTGGTGTGTGCCTGTAATCCCAGTTACTTGGGGAGGCTGAGGCAGGAGAATCACTTGAGCCCAGGAGGTGGACGTTGCAGTGAGTGGAGATGGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAACAAAAAACAAACAAAAAAACACATTCAAACAAAAACTTGTACATGAAAGTCTATAGAAGTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTCCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGAATGTTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCGAATGTCTATAGAAGTTCTATTCACAATAGTCAAAAGATGAAAACAACCCAAATGTCCATCAACTGATGTATGGTAAAATGAAATATGATCTATCCATATGATAGAATATTATTCAGCCATAAAAAGGAATGAAGAGGCCAGGTGCAATGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGTGGTTACAATGAGCCGAGATCTCATCACTGCACTCCAGCCTGAGCGACAGTGAGA
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Task1_train_23870
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This variant impacts the gene B9D1 (B9 domain containing 1) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Familial aplasia of the vermis
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ACAGCTGGCTGTCACCAGGGTGGAGACCTTGCCAGGTGAGCATAAACGAAGGATGGAGGGCACTATGGGAAGTGCATGCAGATGACCAAGAGTTCTAAACTGGGCTGGGAGGAAAGCAAGGAAAGAGGGGCTGATGGTTGGCGAAAAGGGGCTGGGCCAGGAGCTTGGAGGGCCTGGTGGTTTGAAGAGCACAGGGAAGCGCCACATGAGGGAGGGCCTGGCCTGAGGGAGGGATGCCTCAATCCAGACTTTGGAGGCAGTGCCTTCACCAGTAACAAGAGATATGCCTGCCTGGCTGTGAGGGGTAGAGGTGAAGACAGACTGTTCCAAGTGAGGAGGTTGAGGAAGAGGCAAGGACACACCCCTGCTCTAGGCTCACCGCACATGGGGAGTGGGAGGAAAAAGATTCCACTTAAGAGGGCTGCAGGGTACTGAGTGGGCTTCAGTAAGGCCAGAAGGCAGAGGGAACTTCCTATTCCGAGAAGATGGAATCACAGGAATTTTGCTGACAACAGACGATGAGTTTCAGAACGCACAGTGAGTTGGGGGGAGGGCACGGGAGTGCTCGTGAGATAAAAGGCAGAAGAGGGTCGGCCCAGATGGTCTCAGGGCAAGTGCCATGACGACAGTCCAGGGCAACATGGGCGAGGCTGGGAGGTGGGGGTTTGCCAGGAGCCTGTGGTTTCTCTTGGATCCCGCTGAGGGCAGTATCTAGGCTGGGGCACCATGTCTGCCGAAAGCTCAGTGGCAGGGCAGAGAGGGCCTGGGGCTGCCTCGTGAGGTGCGAGGGGTTCTTGTGAAGGTGGGGAGGCCCAGGGTCAGGGCCTCCCAAAGTAATGCTGAAGGGGCTCTGCTTCCAGAAGGGCCTGGACAACCTCAGAGGTCAGGGTGTTGAGCCAGGGGGCTCACCTTCCTCTCCTGCCAAGGGGCTGCCAGAAAGCTGGACCCCAGCCAGCGGCCTCCCACCTCTGAGAGGTTTCCAGCCCCCATCCTTGGACTGTGGGTAGGGGGGCAGAGAGGGGAGTGGGCAGGCTGAGGGTCTGCCATCCCCCGGGGTACCTCACCATTCCAGCTCCCAATAACAGGGTTCTGTCCTTGCCAAGGGAGGCTGGTGGCCAGAAGCATGGCTGAACGGGTGATTCTACTTAACCCCAAGCCTCTAAGGAGGGTGCCATGCCCAGTTAGTTCAAGGAACAATGTGTTGCGGTATAGAAAAGGCCACACAGCTTTGAGTGGCAGAACCTGGTTATGTCAAAGCTCCCATCCCACATGCCATCCTGCTGCACGGTCTGGTCTCCTGGCAGCTTCCACGGCACAAGGGGTAGGGACAGGGAGAGCCCTGGAGGTGGGGCCAGGAAAGGCCCAAGAGCCCCCAGCTCCTGTGGGGGAGGGGCTAAACAGGAGAGAAGGCAGCCCCAGGCCTAGGCTCTCTGAAAATGAGACTTTATTATACAAAACTATTCTGTGTGCCCCCAGCTCTGGCCACCAGGCTGCCCCTCAGGCCGATGGGCAGCGGCTGACTTCGGGAAGGCAGCCCTTCATTATCAGAGACTGTGCAGCCTGTGGAGCCTTCACTGGGGGAAGCTCTGGGGTGGGCTGGGCCCCAACACACCCTGTGTATCAGAAGGCCCAGTGTCATAGCCCAGTTTCCTCATGTCCTTGGTCACCACGTTGAAGAGGAGGGTGACAAAGCCCTGAGAACGGACACGGGTCACTGGGGACAGAAGGGCAGCATCAGCCAGGCTGGGCTGGGGCAGAGAGAGACCCAGGTTGATCTGGGAATCTCAGCCTCAGCGTTCTCATCTGTAAAATGGGGACAACAGTGCCTGACCCAAGCCCCTCACTGGGAGGTAAAGGGGCTGCCGGGACAGGCAGACATGACAAACCCTCTGTGCTCCAACCAGGCCCTCATCTGGGAACATTTGTGGGCTAGCTCCTATGTGCCTGGCAGGTCCCCGGCATTCACCCCAACCCTGGGCCCACCCACTCCCAGGCTGTAACCTGTATGGGGGATGGGGGTAAGAGAGGGGAGGGAGCTTTACCTTCCCGGCCTTCACCCTGAGCCACCACCTTGGGGTCTGTGTACTCGGGCCGCCGCCCCATGAACCAGCTGGGAACACAGAAGAACACAGGTGAGCAGGGCCCCACCTGGGCATTCCTGGTCTTGGACGACACTGGATGTGGGCTCTCCTCGGTTCAGAAACCAGCACTCTTGTTCCAACCGCACCCCACCCCCACCAGGAGTCAGGCCCTAAGCAGAGCCTTCCCAGTGGCTGGGCTCCAGCGTGGGGTGTCCCTTGCCGAGGTCACACAGCCTAGCCAGGCCTCATGTGCTCTGCAGCCACGCTGCCTCCGCTGGCCGGTTAGGCTTTTCCATCTCTGGCTTCCATGGGTTTGGTTCACTGGGAATGAGAGCTCAGGAAGATTCTGGGGTGGGGGTGCTACCTGAACCCCCAGAAATCCCAGAAAAGTGACAGCAGCTGAGGTGGGGGAGGGGAGGGGACAGTGTGACCCTCCAGCCTCCCTGGAAGGGGGTCCCACCCCAGAGAGTCTGTGGGGTGGGCAGAAGGGCCAGAACGGCTCCTCAGCCTTACCTCCCACTAGTGTGGGGTCCAGGACATGTCACTTCCCATCTTGGCACCCACCGCAGGCCCTGCCAGGGGCGGCACACAGCCACCAGGCTGAGCATGCGCCCTCCCCAGCCCCAGACCCCAGTTGGGCCAGGCGGGAGGCCAGGAGGCCGGGGGTGTCAGGCCCCGCCGCCGACACACCCACGCGAGCCGGAAACAACCAGGAGCACTATTCCCGGCCGGGTGGGTCCAGCAGCCGCGGGCTTCGCCCCGCCGGGACTCGCGGCCGCGCCTCCTCTGTACCACAGCTCCCAAGGTCCCCCCACGGACACACCCGGCCCCGAGGGTCGCTGGCAACCATGCCGACCCAAAAGCCCACGCACCGCCCTCCCCGCGGCCTCTCCGTCTCTGAGGTGGGCACCAGCGCTCACCTGGGGCGGCTGCAGAGGGGCCCAGGCCAGGGAGGGGCTCTCAGCTGCCGCAGAGTTGGCCTGTGGAGACCACAGCCAGGGAGCACTGCCCACCAGCCCCCAACCCCAAGGAGGGAGCCAGAGAGTGAAAGCCAGCAGGCGCTCCCCAAGGGGAAGGGATGGGCAGCCACAACCCCTGCGCCTCAGTTTCTCCTTTGGGAGAGCAAGACTCTCACAGCACCCACCTCACAAGAGGCTATGTATGAGGACTGGGGCCTGGGAGCATCCCCACTGTGCCCAGCAGATCCCATCCCGGAGCTCACATGGAGCTCCCGTTCCCACTGAATTTCTTTCCTGGGGTCCACCCGGGTGGTCTGCTTAGCTGGCTGGGGTTGGGGAGACAAGACAGGCTGTTCTGGGAGAGCATTCCAGGCAAGGACCTGAGGCAAGGAAGGACCCCTCAGACTGCAGGAACTGAGGTAGATGGGAAGCAAGTGGGCAGAGGCCATGAGGTAGGCAGGGCCCGACCACCGGCCTGGCAGCATTCTGGTTGAAGTTCATTCTGACAGAGACAGGTTCTAGCAGGGGAGGGGTGCAGCCCCAGTTGTGTTTTAGGAACACCGTTTTTCTTGCTATGTGAAGACTAGACTGGAGGGGTGGCAGCAGGCTGAATGACGGCCCCTCAAAGATAGCAGATCCTAGTCCTGGGAAACCGTGCACGTGACCTTATTGAGAAACAGGGTCACGTGCACTTTGCACAGATATGATTAGGCTAAGGATCTTGAGGCGACTATCCAGGTGGACCCTAAAGGCCAGGACTCGAGTGATGAGGCCACAAGCCAAGGAAGGCTGGGGCCACCAGAAACTGAAAGGGCAATAAACAGAGTCTCCCCTAGAGCCTTGGGAGGGAGCACAGCCCTGTGGTGCCTTTTCTGGGCCCAGTGACCTGGATTTTGAACTCTGGCCTTCAGCATACATTTCTGCTGTTTTCAGCTATCACATTTGTGTGTTTTGTTGCAGCAGCCACCGTGGGAAACGAATACAGTGGCCAAGAGTGTTTGGGGCAGGCCCTAGGCCAGCGCTGGAGGATGTGGGGAGAGGCTGGGAGAGGGGTGG
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ACAGCTGGCTGTCACCAGGGTGGAGACCTTGCCAGGTGAGCATAAACGAAGGATGGAGGGCACTATGGGAAGTGCATGCAGATGACCAAGAGTTCTAAACTGGGCTGGGAGGAAAGCAAGGAAAGAGGGGCTGATGGTTGGCGAAAAGGGGCTGGGCCAGGAGCTTGGAGGGCCTGGTGGTTTGAAGAGCACAGGGAAGCGCCACATGAGGGAGGGCCTGGCCTGAGGGAGGGATGCCTCAATCCAGACTTTGGAGGCAGTGCCTTCACCAGTAACAAGAGATATGCCTGCCTGGCTGTGAGGGGTAGAGGTGAAGACAGACTGTTCCAAGTGAGGAGGTTGAGGAAGAGGCAAGGACACACCCCTGCTCTAGGCTCACCGCACATGGGGAGTGGGAGGAAAAAGATTCCACTTAAGAGGGCTGCAGGGTACTGAGTGGGCTTCAGTAAGGCCAGAAGGCAGAGGGAACTTCCTATTCCGAGAAGATGGAATCACAGGAATTTTGCTGACAACAGACGATGAGTTTCAGAACGCACAGTGAGTTGGGGGGAGGGCACGGGAGTGCTCGTGAGATAAAAGGCAGAAGAGGGTCGGCCCAGATGGTCTCAGGGCAAGTGCCATGACGACAGTCCAGGGCAACATGGGCGAGGCTGGGAGGTGGGGGTTTGCCAGGAGCCTGTGGTTTCTCTTGGATCCCGCTGAGGGCAGTATCTAGGCTGGGGCACCATGTCTGCCGAAAGCTCAGTGGCAGGGCAGAGAGGGCCTGGGGCTGCCTCGTGAGGTGCGAGGGGTTCTTGTGAAGGTGGGGAGGCCCAGGGTCAGGGCCTCCCAAAGTAATGCTGAAGGGGCTCTGCTTCCAGAAGGGCCTGGACAACCTCAGAGGTCAGGGTGTTGAGCCAGGGGGCTCACCTTCCTCTCCTGCCAAGGGGCTGCCAGAAAGCTGGACCCCAGCCAGCGGCCTCCCACCTCTGAGAGGTTTCCAGCCCCCATCCTTGGACTGTGGGTAGGGGGGCAGAGAGGGGAGTGGGCAGGCTGAGGGTCTGCCATCCCCCGGGGTACCTCACCATTCCAGCTCCCAATAACAGGGTTCTGTCCTTGCCAAGGGAGGCTGGTGGCCAGAAGCATGGCTGAACGGGTGATTCTACTTAACCCCAAGCCTCTAAGGAGGGTGCCATGCCCAGTTAGTTCAAGGAACAATGTGTTGCGGTATAGAAAAGGCCACACAGCTTTGAGTGGCAGAACCTGGTTATGTCAAAGCTCCCATCCCACATGCCATCCTGCTGCACGGTCTGGTCTCCTGGCAGCTTCCACGGCACAAGGGGTAGGGACAGGGAGAGCCCTGGAGGTGGGGCCAGGAAAGGCCCAAGAGCCCCCAGCTCCTGTGGGGGAGGGGCTAAACAGGAGAGAAGGCAGCCCCAGGCCTAGGCTCTCTGAAAATGAGACTTTATTATACAAAACTATTCTGTGTGCCCCCAGCTCTGGCCACCAGGCTGCCCCTCAGGCCGATGGGCAGCGGCTGACTTCGGGAAGGCAGCCCTTCATTATCAGAGACTGTGCAGCCTGTGGAGCCTTCACTGGGGGAAGCTCTGGGGTGGGCTGGGCCCCAACACACCCTGTGTATCAGAAGGCCCAGTGTCATAGCCCAGTTTCCTCATGTCCTTGGTCACCACGTTGAAGAGGAGGGTGACAAAGCCCTGAGAACGGACACGGGTCACTGGGGACAGAAGGGCAGCATCAGCCAGGCTGGGCTGGGGCAGAGAGAGACCCAGGTTGATCTGGGAATCTCAGCCTCAGCGTTCTCATCTGTAAAATGGGGACAACAGTGCCTGACCCAAGCCCCTCACTGGGAGGTAAAGGGGCTGCCGGGACAGGCAGACATGACAAACCCTCTGTGCTCCAACCAGGCCCTCATCTGGGAACATTTGTGGGCTAGCTCCTATGTGCCTGGCAGGTCCCCGGCATTCACCCCAACCCTGGGCCCACCCACTCCCAGGCTGTAACCTGTATGGGGGATGGGGGTAAGAGAGGGGAGGGAGCTTTACCTTCCCAGCCTTCACCCTGAGCCACCACCTTGGGGTCTGTGTACTCGGGCCGCCGCCCCATGAACCAGCTGGGAACACAGAAGAACACAGGTGAGCAGGGCCCCACCTGGGCATTCCTGGTCTTGGACGACACTGGATGTGGGCTCTCCTCGGTTCAGAAACCAGCACTCTTGTTCCAACCGCACCCCACCCCCACCAGGAGTCAGGCCCTAAGCAGAGCCTTCCCAGTGGCTGGGCTCCAGCGTGGGGTGTCCCTTGCCGAGGTCACACAGCCTAGCCAGGCCTCATGTGCTCTGCAGCCACGCTGCCTCCGCTGGCCGGTTAGGCTTTTCCATCTCTGGCTTCCATGGGTTTGGTTCACTGGGAATGAGAGCTCAGGAAGATTCTGGGGTGGGGGTGCTACCTGAACCCCCAGAAATCCCAGAAAAGTGACAGCAGCTGAGGTGGGGGAGGGGAGGGGACAGTGTGACCCTCCAGCCTCCCTGGAAGGGGGTCCCACCCCAGAGAGTCTGTGGGGTGGGCAGAAGGGCCAGAACGGCTCCTCAGCCTTACCTCCCACTAGTGTGGGGTCCAGGACATGTCACTTCCCATCTTGGCACCCACCGCAGGCCCTGCCAGGGGCGGCACACAGCCACCAGGCTGAGCATGCGCCCTCCCCAGCCCCAGACCCCAGTTGGGCCAGGCGGGAGGCCAGGAGGCCGGGGGTGTCAGGCCCCGCCGCCGACACACCCACGCGAGCCGGAAACAACCAGGAGCACTATTCCCGGCCGGGTGGGTCCAGCAGCCGCGGGCTTCGCCCCGCCGGGACTCGCGGCCGCGCCTCCTCTGTACCACAGCTCCCAAGGTCCCCCCACGGACACACCCGGCCCCGAGGGTCGCTGGCAACCATGCCGACCCAAAAGCCCACGCACCGCCCTCCCCGCGGCCTCTCCGTCTCTGAGGTGGGCACCAGCGCTCACCTGGGGCGGCTGCAGAGGGGCCCAGGCCAGGGAGGGGCTCTCAGCTGCCGCAGAGTTGGCCTGTGGAGACCACAGCCAGGGAGCACTGCCCACCAGCCCCCAACCCCAAGGAGGGAGCCAGAGAGTGAAAGCCAGCAGGCGCTCCCCAAGGGGAAGGGATGGGCAGCCACAACCCCTGCGCCTCAGTTTCTCCTTTGGGAGAGCAAGACTCTCACAGCACCCACCTCACAAGAGGCTATGTATGAGGACTGGGGCCTGGGAGCATCCCCACTGTGCCCAGCAGATCCCATCCCGGAGCTCACATGGAGCTCCCGTTCCCACTGAATTTCTTTCCTGGGGTCCACCCGGGTGGTCTGCTTAGCTGGCTGGGGTTGGGGAGACAAGACAGGCTGTTCTGGGAGAGCATTCCAGGCAAGGACCTGAGGCAAGGAAGGACCCCTCAGACTGCAGGAACTGAGGTAGATGGGAAGCAAGTGGGCAGAGGCCATGAGGTAGGCAGGGCCCGACCACCGGCCTGGCAGCATTCTGGTTGAAGTTCATTCTGACAGAGACAGGTTCTAGCAGGGGAGGGGTGCAGCCCCAGTTGTGTTTTAGGAACACCGTTTTTCTTGCTATGTGAAGACTAGACTGGAGGGGTGGCAGCAGGCTGAATGACGGCCCCTCAAAGATAGCAGATCCTAGTCCTGGGAAACCGTGCACGTGACCTTATTGAGAAACAGGGTCACGTGCACTTTGCACAGATATGATTAGGCTAAGGATCTTGAGGCGACTATCCAGGTGGACCCTAAAGGCCAGGACTCGAGTGATGAGGCCACAAGCCAAGGAAGGCTGGGGCCACCAGAAACTGAAAGGGCAATAAACAGAGTCTCCCCTAGAGCCTTGGGAGGGAGCACAGCCCTGTGGTGCCTTTTCTGGGCCCAGTGACCTGGATTTTGAACTCTGGCCTTCAGCATACATTTCTGCTGTTTTCAGCTATCACATTTGTGTGTTTTGTTGCAGCAGCCACCGTGGGAAACGAATACAGTGGCCAAGAGTGTTTGGGGCAGGCCCTAGGCCAGCGCTGGAGGATGTGGGGAGAGGCTGGGAGAGGGGTGG
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Task1_train_23871
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A genetic alteration is present in B9D1 (B9 domain containing 1) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Joubert syndrome 27
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ACAGCTGGCTGTCACCAGGGTGGAGACCTTGCCAGGTGAGCATAAACGAAGGATGGAGGGCACTATGGGAAGTGCATGCAGATGACCAAGAGTTCTAAACTGGGCTGGGAGGAAAGCAAGGAAAGAGGGGCTGATGGTTGGCGAAAAGGGGCTGGGCCAGGAGCTTGGAGGGCCTGGTGGTTTGAAGAGCACAGGGAAGCGCCACATGAGGGAGGGCCTGGCCTGAGGGAGGGATGCCTCAATCCAGACTTTGGAGGCAGTGCCTTCACCAGTAACAAGAGATATGCCTGCCTGGCTGTGAGGGGTAGAGGTGAAGACAGACTGTTCCAAGTGAGGAGGTTGAGGAAGAGGCAAGGACACACCCCTGCTCTAGGCTCACCGCACATGGGGAGTGGGAGGAAAAAGATTCCACTTAAGAGGGCTGCAGGGTACTGAGTGGGCTTCAGTAAGGCCAGAAGGCAGAGGGAACTTCCTATTCCGAGAAGATGGAATCACAGGAATTTTGCTGACAACAGACGATGAGTTTCAGAACGCACAGTGAGTTGGGGGGAGGGCACGGGAGTGCTCGTGAGATAAAAGGCAGAAGAGGGTCGGCCCAGATGGTCTCAGGGCAAGTGCCATGACGACAGTCCAGGGCAACATGGGCGAGGCTGGGAGGTGGGGGTTTGCCAGGAGCCTGTGGTTTCTCTTGGATCCCGCTGAGGGCAGTATCTAGGCTGGGGCACCATGTCTGCCGAAAGCTCAGTGGCAGGGCAGAGAGGGCCTGGGGCTGCCTCGTGAGGTGCGAGGGGTTCTTGTGAAGGTGGGGAGGCCCAGGGTCAGGGCCTCCCAAAGTAATGCTGAAGGGGCTCTGCTTCCAGAAGGGCCTGGACAACCTCAGAGGTCAGGGTGTTGAGCCAGGGGGCTCACCTTCCTCTCCTGCCAAGGGGCTGCCAGAAAGCTGGACCCCAGCCAGCGGCCTCCCACCTCTGAGAGGTTTCCAGCCCCCATCCTTGGACTGTGGGTAGGGGGGCAGAGAGGGGAGTGGGCAGGCTGAGGGTCTGCCATCCCCCGGGGTACCTCACCATTCCAGCTCCCAATAACAGGGTTCTGTCCTTGCCAAGGGAGGCTGGTGGCCAGAAGCATGGCTGAACGGGTGATTCTACTTAACCCCAAGCCTCTAAGGAGGGTGCCATGCCCAGTTAGTTCAAGGAACAATGTGTTGCGGTATAGAAAAGGCCACACAGCTTTGAGTGGCAGAACCTGGTTATGTCAAAGCTCCCATCCCACATGCCATCCTGCTGCACGGTCTGGTCTCCTGGCAGCTTCCACGGCACAAGGGGTAGGGACAGGGAGAGCCCTGGAGGTGGGGCCAGGAAAGGCCCAAGAGCCCCCAGCTCCTGTGGGGGAGGGGCTAAACAGGAGAGAAGGCAGCCCCAGGCCTAGGCTCTCTGAAAATGAGACTTTATTATACAAAACTATTCTGTGTGCCCCCAGCTCTGGCCACCAGGCTGCCCCTCAGGCCGATGGGCAGCGGCTGACTTCGGGAAGGCAGCCCTTCATTATCAGAGACTGTGCAGCCTGTGGAGCCTTCACTGGGGGAAGCTCTGGGGTGGGCTGGGCCCCAACACACCCTGTGTATCAGAAGGCCCAGTGTCATAGCCCAGTTTCCTCATGTCCTTGGTCACCACGTTGAAGAGGAGGGTGACAAAGCCCTGAGAACGGACACGGGTCACTGGGGACAGAAGGGCAGCATCAGCCAGGCTGGGCTGGGGCAGAGAGAGACCCAGGTTGATCTGGGAATCTCAGCCTCAGCGTTCTCATCTGTAAAATGGGGACAACAGTGCCTGACCCAAGCCCCTCACTGGGAGGTAAAGGGGCTGCCGGGACAGGCAGACATGACAAACCCTCTGTGCTCCAACCAGGCCCTCATCTGGGAACATTTGTGGGCTAGCTCCTATGTGCCTGGCAGGTCCCCGGCATTCACCCCAACCCTGGGCCCACCCACTCCCAGGCTGTAACCTGTATGGGGGATGGGGGTAAGAGAGGGGAGGGAGCTTTACCTTCCCGGCCTTCACCCTGAGCCACCACCTTGGGGTCTGTGTACTCGGGCCGCCGCCCCATGAACCAGCTGGGAACACAGAAGAACACAGGTGAGCAGGGCCCCACCTGGGCATTCCTGGTCTTGGACGACACTGGATGTGGGCTCTCCTCGGTTCAGAAACCAGCACTCTTGTTCCAACCGCACCCCACCCCCACCAGGAGTCAGGCCCTAAGCAGAGCCTTCCCAGTGGCTGGGCTCCAGCGTGGGGTGTCCCTTGCCGAGGTCACACAGCCTAGCCAGGCCTCATGTGCTCTGCAGCCACGCTGCCTCCGCTGGCCGGTTAGGCTTTTCCATCTCTGGCTTCCATGGGTTTGGTTCACTGGGAATGAGAGCTCAGGAAGATTCTGGGGTGGGGGTGCTACCTGAACCCCCAGAAATCCCAGAAAAGTGACAGCAGCTGAGGTGGGGGAGGGGAGGGGACAGTGTGACCCTCCAGCCTCCCTGGAAGGGGGTCCCACCCCAGAGAGTCTGTGGGGTGGGCAGAAGGGCCAGAACGGCTCCTCAGCCTTACCTCCCACTAGTGTGGGGTCCAGGACATGTCACTTCCCATCTTGGCACCCACCGCAGGCCCTGCCAGGGGCGGCACACAGCCACCAGGCTGAGCATGCGCCCTCCCCAGCCCCAGACCCCAGTTGGGCCAGGCGGGAGGCCAGGAGGCCGGGGGTGTCAGGCCCCGCCGCCGACACACCCACGCGAGCCGGAAACAACCAGGAGCACTATTCCCGGCCGGGTGGGTCCAGCAGCCGCGGGCTTCGCCCCGCCGGGACTCGCGGCCGCGCCTCCTCTGTACCACAGCTCCCAAGGTCCCCCCACGGACACACCCGGCCCCGAGGGTCGCTGGCAACCATGCCGACCCAAAAGCCCACGCACCGCCCTCCCCGCGGCCTCTCCGTCTCTGAGGTGGGCACCAGCGCTCACCTGGGGCGGCTGCAGAGGGGCCCAGGCCAGGGAGGGGCTCTCAGCTGCCGCAGAGTTGGCCTGTGGAGACCACAGCCAGGGAGCACTGCCCACCAGCCCCCAACCCCAAGGAGGGAGCCAGAGAGTGAAAGCCAGCAGGCGCTCCCCAAGGGGAAGGGATGGGCAGCCACAACCCCTGCGCCTCAGTTTCTCCTTTGGGAGAGCAAGACTCTCACAGCACCCACCTCACAAGAGGCTATGTATGAGGACTGGGGCCTGGGAGCATCCCCACTGTGCCCAGCAGATCCCATCCCGGAGCTCACATGGAGCTCCCGTTCCCACTGAATTTCTTTCCTGGGGTCCACCCGGGTGGTCTGCTTAGCTGGCTGGGGTTGGGGAGACAAGACAGGCTGTTCTGGGAGAGCATTCCAGGCAAGGACCTGAGGCAAGGAAGGACCCCTCAGACTGCAGGAACTGAGGTAGATGGGAAGCAAGTGGGCAGAGGCCATGAGGTAGGCAGGGCCCGACCACCGGCCTGGCAGCATTCTGGTTGAAGTTCATTCTGACAGAGACAGGTTCTAGCAGGGGAGGGGTGCAGCCCCAGTTGTGTTTTAGGAACACCGTTTTTCTTGCTATGTGAAGACTAGACTGGAGGGGTGGCAGCAGGCTGAATGACGGCCCCTCAAAGATAGCAGATCCTAGTCCTGGGAAACCGTGCACGTGACCTTATTGAGAAACAGGGTCACGTGCACTTTGCACAGATATGATTAGGCTAAGGATCTTGAGGCGACTATCCAGGTGGACCCTAAAGGCCAGGACTCGAGTGATGAGGCCACAAGCCAAGGAAGGCTGGGGCCACCAGAAACTGAAAGGGCAATAAACAGAGTCTCCCCTAGAGCCTTGGGAGGGAGCACAGCCCTGTGGTGCCTTTTCTGGGCCCAGTGACCTGGATTTTGAACTCTGGCCTTCAGCATACATTTCTGCTGTTTTCAGCTATCACATTTGTGTGTTTTGTTGCAGCAGCCACCGTGGGAAACGAATACAGTGGCCAAGAGTGTTTGGGGCAGGCCCTAGGCCAGCGCTGGAGGATGTGGGGAGAGGCTGGGAGAGGGGTGG
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ACAGCTGGCTGTCACCAGGGTGGAGACCTTGCCAGGTGAGCATAAACGAAGGATGGAGGGCACTATGGGAAGTGCATGCAGATGACCAAGAGTTCTAAACTGGGCTGGGAGGAAAGCAAGGAAAGAGGGGCTGATGGTTGGCGAAAAGGGGCTGGGCCAGGAGCTTGGAGGGCCTGGTGGTTTGAAGAGCACAGGGAAGCGCCACATGAGGGAGGGCCTGGCCTGAGGGAGGGATGCCTCAATCCAGACTTTGGAGGCAGTGCCTTCACCAGTAACAAGAGATATGCCTGCCTGGCTGTGAGGGGTAGAGGTGAAGACAGACTGTTCCAAGTGAGGAGGTTGAGGAAGAGGCAAGGACACACCCCTGCTCTAGGCTCACCGCACATGGGGAGTGGGAGGAAAAAGATTCCACTTAAGAGGGCTGCAGGGTACTGAGTGGGCTTCAGTAAGGCCAGAAGGCAGAGGGAACTTCCTATTCCGAGAAGATGGAATCACAGGAATTTTGCTGACAACAGACGATGAGTTTCAGAACGCACAGTGAGTTGGGGGGAGGGCACGGGAGTGCTCGTGAGATAAAAGGCAGAAGAGGGTCGGCCCAGATGGTCTCAGGGCAAGTGCCATGACGACAGTCCAGGGCAACATGGGCGAGGCTGGGAGGTGGGGGTTTGCCAGGAGCCTGTGGTTTCTCTTGGATCCCGCTGAGGGCAGTATCTAGGCTGGGGCACCATGTCTGCCGAAAGCTCAGTGGCAGGGCAGAGAGGGCCTGGGGCTGCCTCGTGAGGTGCGAGGGGTTCTTGTGAAGGTGGGGAGGCCCAGGGTCAGGGCCTCCCAAAGTAATGCTGAAGGGGCTCTGCTTCCAGAAGGGCCTGGACAACCTCAGAGGTCAGGGTGTTGAGCCAGGGGGCTCACCTTCCTCTCCTGCCAAGGGGCTGCCAGAAAGCTGGACCCCAGCCAGCGGCCTCCCACCTCTGAGAGGTTTCCAGCCCCCATCCTTGGACTGTGGGTAGGGGGGCAGAGAGGGGAGTGGGCAGGCTGAGGGTCTGCCATCCCCCGGGGTACCTCACCATTCCAGCTCCCAATAACAGGGTTCTGTCCTTGCCAAGGGAGGCTGGTGGCCAGAAGCATGGCTGAACGGGTGATTCTACTTAACCCCAAGCCTCTAAGGAGGGTGCCATGCCCAGTTAGTTCAAGGAACAATGTGTTGCGGTATAGAAAAGGCCACACAGCTTTGAGTGGCAGAACCTGGTTATGTCAAAGCTCCCATCCCACATGCCATCCTGCTGCACGGTCTGGTCTCCTGGCAGCTTCCACGGCACAAGGGGTAGGGACAGGGAGAGCCCTGGAGGTGGGGCCAGGAAAGGCCCAAGAGCCCCCAGCTCCTGTGGGGGAGGGGCTAAACAGGAGAGAAGGCAGCCCCAGGCCTAGGCTCTCTGAAAATGAGACTTTATTATACAAAACTATTCTGTGTGCCCCCAGCTCTGGCCACCAGGCTGCCCCTCAGGCCGATGGGCAGCGGCTGACTTCGGGAAGGCAGCCCTTCATTATCAGAGACTGTGCAGCCTGTGGAGCCTTCACTGGGGGAAGCTCTGGGGTGGGCTGGGCCCCAACACACCCTGTGTATCAGAAGGCCCAGTGTCATAGCCCAGTTTCCTCATGTCCTTGGTCACCACGTTGAAGAGGAGGGTGACAAAGCCCTGAGAACGGACACGGGTCACTGGGGACAGAAGGGCAGCATCAGCCAGGCTGGGCTGGGGCAGAGAGAGACCCAGGTTGATCTGGGAATCTCAGCCTCAGCGTTCTCATCTGTAAAATGGGGACAACAGTGCCTGACCCAAGCCCCTCACTGGGAGGTAAAGGGGCTGCCGGGACAGGCAGACATGACAAACCCTCTGTGCTCCAACCAGGCCCTCATCTGGGAACATTTGTGGGCTAGCTCCTATGTGCCTGGCAGGTCCCCGGCATTCACCCCAACCCTGGGCCCACCCACTCCCAGGCTGTAACCTGTATGGGGGATGGGGGTAAGAGAGGGGAGGGAGCTTTACCTTCCCAGCCTTCACCCTGAGCCACCACCTTGGGGTCTGTGTACTCGGGCCGCCGCCCCATGAACCAGCTGGGAACACAGAAGAACACAGGTGAGCAGGGCCCCACCTGGGCATTCCTGGTCTTGGACGACACTGGATGTGGGCTCTCCTCGGTTCAGAAACCAGCACTCTTGTTCCAACCGCACCCCACCCCCACCAGGAGTCAGGCCCTAAGCAGAGCCTTCCCAGTGGCTGGGCTCCAGCGTGGGGTGTCCCTTGCCGAGGTCACACAGCCTAGCCAGGCCTCATGTGCTCTGCAGCCACGCTGCCTCCGCTGGCCGGTTAGGCTTTTCCATCTCTGGCTTCCATGGGTTTGGTTCACTGGGAATGAGAGCTCAGGAAGATTCTGGGGTGGGGGTGCTACCTGAACCCCCAGAAATCCCAGAAAAGTGACAGCAGCTGAGGTGGGGGAGGGGAGGGGACAGTGTGACCCTCCAGCCTCCCTGGAAGGGGGTCCCACCCCAGAGAGTCTGTGGGGTGGGCAGAAGGGCCAGAACGGCTCCTCAGCCTTACCTCCCACTAGTGTGGGGTCCAGGACATGTCACTTCCCATCTTGGCACCCACCGCAGGCCCTGCCAGGGGCGGCACACAGCCACCAGGCTGAGCATGCGCCCTCCCCAGCCCCAGACCCCAGTTGGGCCAGGCGGGAGGCCAGGAGGCCGGGGGTGTCAGGCCCCGCCGCCGACACACCCACGCGAGCCGGAAACAACCAGGAGCACTATTCCCGGCCGGGTGGGTCCAGCAGCCGCGGGCTTCGCCCCGCCGGGACTCGCGGCCGCGCCTCCTCTGTACCACAGCTCCCAAGGTCCCCCCACGGACACACCCGGCCCCGAGGGTCGCTGGCAACCATGCCGACCCAAAAGCCCACGCACCGCCCTCCCCGCGGCCTCTCCGTCTCTGAGGTGGGCACCAGCGCTCACCTGGGGCGGCTGCAGAGGGGCCCAGGCCAGGGAGGGGCTCTCAGCTGCCGCAGAGTTGGCCTGTGGAGACCACAGCCAGGGAGCACTGCCCACCAGCCCCCAACCCCAAGGAGGGAGCCAGAGAGTGAAAGCCAGCAGGCGCTCCCCAAGGGGAAGGGATGGGCAGCCACAACCCCTGCGCCTCAGTTTCTCCTTTGGGAGAGCAAGACTCTCACAGCACCCACCTCACAAGAGGCTATGTATGAGGACTGGGGCCTGGGAGCATCCCCACTGTGCCCAGCAGATCCCATCCCGGAGCTCACATGGAGCTCCCGTTCCCACTGAATTTCTTTCCTGGGGTCCACCCGGGTGGTCTGCTTAGCTGGCTGGGGTTGGGGAGACAAGACAGGCTGTTCTGGGAGAGCATTCCAGGCAAGGACCTGAGGCAAGGAAGGACCCCTCAGACTGCAGGAACTGAGGTAGATGGGAAGCAAGTGGGCAGAGGCCATGAGGTAGGCAGGGCCCGACCACCGGCCTGGCAGCATTCTGGTTGAAGTTCATTCTGACAGAGACAGGTTCTAGCAGGGGAGGGGTGCAGCCCCAGTTGTGTTTTAGGAACACCGTTTTTCTTGCTATGTGAAGACTAGACTGGAGGGGTGGCAGCAGGCTGAATGACGGCCCCTCAAAGATAGCAGATCCTAGTCCTGGGAAACCGTGCACGTGACCTTATTGAGAAACAGGGTCACGTGCACTTTGCACAGATATGATTAGGCTAAGGATCTTGAGGCGACTATCCAGGTGGACCCTAAAGGCCAGGACTCGAGTGATGAGGCCACAAGCCAAGGAAGGCTGGGGCCACCAGAAACTGAAAGGGCAATAAACAGAGTCTCCCCTAGAGCCTTGGGAGGGAGCACAGCCCTGTGGTGCCTTTTCTGGGCCCAGTGACCTGGATTTTGAACTCTGGCCTTCAGCATACATTTCTGCTGTTTTCAGCTATCACATTTGTGTGTTTTGTTGCAGCAGCCACCGTGGGAAACGAATACAGTGGCCAAGAGTGTTTGGGGCAGGCCCTAGGCCAGCGCTGGAGGATGTGGGGAGAGGCTGGGAGAGGGGTGG
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Task1_train_23872
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Here is a variant affecting MAPK7 (mitogen-activated protein kinase 7) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Scoliosis, isolated, susceptibility to, 1
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TGACGTGGGCGACGAGTACGAGATCATCGAGACCATAGGCAACGGGGCCTATGGAGTGGTGTCCTCCGCCCGCCGCCGCCTCACCGGTGAGCTTCCTGAGCCGTCGCCTCCCAGATGTGGCAGCGTCGCAGGGAGTGGGAAACCGGCCTGTCCCAGACAGCCGGGAAGGAAAGCGGGGTGCGAGTTCTGGCTCCAGTCAACACACACTGACCAGGGCCTTCTGCCTGCCAGGCTCCGGGGAGGCTCGGTTCTCTGAAACTCCGGCCTGGTGGTTTTGCCATCCTGCCTGCCTACTTCCTCCTTAGGAAAATGATAGTCCCAGTTAGACCAGAATGGAGAGCCAGTCCTTCGTGTCTAAGAGAGAAATGTGTTCTGGAGCCAGACACTGGCATAAGGAACTGGTGGTGGGATGGGTGAGGTCTGAGATGGAGAGGGTGTAGGCATAAGAGGCTGAGCTACACCACTGGGCATCCGTGCAACCTCCAACAAGTTACTAAGCCATATTTCCTTCTCTTTAACGTTGACCTATTGGGACCTGCCCCGCAGGGGAGTTGTGAAGGTAACATTTAATAATGTAGGTAACATGCTTAGCACAGGGCTTGGCACATAGTAGGTACCCAATACTTGGTAGCTGTTGTCATTTGCATCCTAGAAGGGAGGTGTTGATAGGGGCTGAGTCGACTCTGCAGTTTCTCCAAGGTATCCTCTGGTATGTCCCTTTTCCCTGCTCCTCAGGCCAGCAGGTGGCCATCAAGAAGATCCCTAATGCTTTCGATGTGGTGACCAATGCCAAGCGGACCCTCAGGGAGCTGAAGATCCTCAAGCACTTTAAACACGACAACATCATCGCCATCAAGGACATCCTGAGGCCCACCGTGCCCTATGGCGAATTCAAATCTGTGTAAGAAGCGGGATGGGAGAGGGAGCCAGACTTGGGACTTTTCTGAAGGCTGCAACCATGTTGCCGAAGTTCTGGAAAGGCAGCTGAATCTAATCTGAAGCAGGCTGGGAAAATTCCCGCAGTTCTAGGACCAGTTCTTTAGAGTTTTGCCAGGGACAACTGTTATTCCTCAAGAAGTGTACAGATGATTTTACAGTTTTATAGAATCTTAGTATATAGGATGTCAAATGTAGGACATTCCTACTATGACCACACCCTCCTATTCCCATAGCAGACTTCACTAATCAATCACAGAACACTTTCCTACAGACAGTGGACAAGCCTGGTCAATTTTCATCATAGTTCTTCAAGCTGCCACTACCAAACAATGGAGATAGCCCCAAAAGGAAACCTATTGGCCAGCCCTGGTGTAGTCCAACCCCATCTTTTATCTGATGGGGAAACTAGGTCTGGAGACAAAAGTGATTTAACCAAGTTCATGGAAAAGTCGTAGAGAATCTAAAACGTGATGCTCTTCTTCCATACCATGCCGTCAGCCCCTATGGGGTCCCAGGGTAAGGCTGTTACCTGTCTGGAATCGGAAGGGTGTGGTGAGGATGGGGCTTGTCCCTGGAGTGTGATCAGGCCAACCCATGCTTCTCTCCTTCCTTCCCCTTCCAGCTACGTGGTCCTGGACCTGATGGAAAGCGACCTGCACCAGATCATCCACTCCTCACAGCCCCTCACACTGGAACACGTGCGCTACTTCCTGTACCAACTGCTGCGGGGCCTGAAGTACATGCACTCGGCTCAGGTCATCCACCGTGACCTGAAGCCCTCCAACCTATTGGTGAATGAGAACTGTGAGCTCAAGATTGGTGACTTTGGTATGGCTCGTGGCCTGTGCACCTCGCCCGCTGAACATCAGTACTTCATGACTGAGTATGTGGCCACGCGCTGGTACCGTGCGCCCGAGCTCATGCTCTCTTTGCATGAGTATACACAGGCTATTGACCTCTGGTCTGTGGGCTGCATCTTTGGTGAGATGCTGGCCCGGCGCCAGCTCTTCCCAGGCAAAAACTATGTACACCAGCTACAGCTCATCATGATGGTGCTGGGTACCCCATCACCAGCCGTGATTCAGGCTGTGGGGGCTGAGAGGGTGCGGGCCTATATCCAGAGCTTGCCACCACGCCAGCCTGTGCCCTGGGAGACAGTGTACCCAGGTGCCGACCGCCAGGCCCTATCACTGCTGGGTCGCATGCTGCGTTTTGAGCCCAGCGCTCGCATCTCAGCAGCTGCTGCCCTTCGCCACCCTTTCCTGGCCAAGTACCATGATCCTGATGATGAGCCTGACTGTGCCCCGCCCTTTGACTTTGCCTTTGACCGCGAAGCCCTCACTCGGGAGCGCATTAAGGAGGCCATTGTGGCTGAAATTGAGGACTTCCATGCAAGGCGTGAGGGCATCCGCCAACAGATCCGCTTCCAGCCTTCTCTACAGCCTGTGGCTAGTGAGCCTGGCTGTCCAGATGTTGAAATGCCCAGTCCCTGGGCTCCCAGTGGGGACTGTGCCATGGAGTCTCCACCACCAGCCCCGCCACCATGCCCCGGCCCTGCACCTGACACCATTGATCTGACCCTGCAGCCACCTCCACCAGTCAGTGAGCCTGCCCCACCAAAGAAAGATGGTGCCATCTCAGACAATACTAAGGCTGCCCTTAAAGCTGCCCTGCTCAAGTCTTTGAGGAGCCGGCTCAGAGGTGCCTTGTGGGCAGGTCGGGTGGGCAGAGGGGAGACTTGGACTTGGACAAGGCTTCAGGCTTTTACCTTCTCCCCTGCCCAACTTCCCCGCAGATGGCCCCAGCGCACCCCTGGAGGCTCCTGAGCCTCGGAAGCCGGTGACAGCCCAGGAGCGCCAGCGGGAGCGGGAGGAGAAGCGGCGGAGGCGGCAAGAACGAGCCAAGGAGCGGGAGAAACGGCGGCAGGAGCGGGAGCGAAAGGAACGGGGGGCTGGGGCCTCTGGGGGCCCCTCCACTGACCCCTTGGCTGGACTAGTGCTCAGTGACAATGACAGAAGCCTGTTGGAACGCTGGACTCGAATGGCCCGGCCCGCAGCCCCAGCCCTCACCTCTGTGCCGGCCCCTGCCCCAGCGCCAACGCCAACCCCAACCCCAGTCCAACCTACCAGTCCTCCTCCTGGCCCTGTAGCCCAGCCCACTGGCCCGCAACCACAATCTGCGGGCTCTACCTCTGGCCCTGTACCCCAGCCTGCCTGCCCACCCCCTGGCCCTGCACCCCACCCCACTGGCCCTCCTGGGCCCATCCCTGTCCCCGCGCCACCCCAGATTGCCACCTCCACCAGCCTCCTGGCTGCCCAGTCACTTGTGCCACCCCCTGGGCTGCCTGGCTCCAGCACCCCAGGAGTTTTGCCTTACTTCCCACCTGGCCTGCCGCCCCCAGACGCCGGGGGAGCCCCTCAGTCTTCCATGTCAGAGTCACCTGATGTCAACCTTGTGACCCAGCAGCTATCTAAGTCACAGGTGAGAGGGAGGCCCAGGCCATGGGGACACCTGGGTCTGGGCCAAAGGAAAATGGGTTCAGGAAGCGGTCAGTGTTCCACAAAAACTGAGCAGCAGATGGGGCTTTATCTCTGAACGTGTCCTCTTGCTCACAGAAGGAGCATAATGGCAATGAAGAGGTTGTTAGGAGACAAGTTAAATATGGCCTGCAAAGTGCCTAGCCCAGAGATGGGGCCAGCCAGCACTCACTGACTGCCGAGACTGGTGTTAGCACTCCCAGATATCCAGGCGGAGTAGTCAGCAGCATTGGGACAGGGTGGCCTACAGACCTCAGTCTGTCTGCATTGTAACCTGTCATTCCCTGCAGGTGGAGGACCCCCTGCCCCCTGTGTTCTCAGGCACACCAAAGGGCAGTGGGGCTGGCTACGGTGTTGGCTTTGACCTGGAGGAATTCTTAAACCAGTCTTTCGACATGGGCGTGGCTGATGGGCCACAGGATGGGTAAGGTGGCTGGACTGAGCTCCTAGACTGGGACTGTGGGGAGAGGTTCCTGGTGCAGGAGACATGCACCTGTGGGATGGGTGAGGGTCCAGCCTAGGCTAATAGCACCCCTCCCTTTCCTTCCCCTGCAGCCAGGCAGATTCAGCCTCTCTCTCAGCCTCCCTGCTTGCTGACTGGCTCGAAGGCCATGGCATGA
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TGACGTGGGCGACGAGTACGAGATCATCGAGACCATAGGCAACGGGGCCTATGGAGTGGTGTCCTCCGCCCGCCGCCGCCTCACCGGTGAGCTTCCTGAGCCGTCGCCTCCCAGATGTGGCAGCGTCGCAGGGAGTGGGAAACCGGCCTGTCCCAGACAGCCGGGAAGGAAAGCGGGGTGCGAGTTCTGGCTCCAGTCAACACACACTGACCAGGGCCTTCTGCCTGCCAGGCTCCGGGGAGGCTCGGTTCTCTGAAACTCCGGCCTGGTGGTTTTGCCATCCTGCCTGCCTACTTCCTCCTTAGGAAAATGATAGTCCCAGTTAGACCAGAATGGAGAGCCAGTCCTTCGTGTCTAAGAGAGAAATGTGTTCTGGAGCCAGACACTGGCATAAGGAACTGGTGGTGGGATGGGTGAGGTCTGAGATGGAGAGGGTGTAGGCATAAGAGGCTGAGCTACACCACTGGGCATCCGTGCAACCTCCAACAAGTTACTAAGCCATATTTCCTTCTCTTTAACGTTGACCTATTGGGACCTGCCCCGCAGGGGAGTTGTGAAGGTAACATTTAATAATGTAGGTAACATGCTTAGCACAGGGCTTGGCACATAGTAGGTACCCAATACTTGGTAGCTGTTGTCATTTGCATCCTAGAAGGGAGGTGTTGATAGGGGCTGAGTCGACTCTGCAGTTTCTCCAAGGTATCCTCTGGTATGTCCCTTTTCCCTGCTCCTCAGGCCAGCAGGTGGCCATCAAGAAGATCCCTAATGCTTTCGATGTGGTGACCAATGCCAAGCGGACCCTCAGGGAGCTGAAGATCCTCAAGCACTTTAAACACGACAACATCATCGCCATCAAGGACATCCTGAGGCCCACCGTGCCCTATGGCGAATTCAAATCTGTGTAAGAAGCGGGATGGGAGAGGGAGCCAGACTTGGGACTTTTCTGAAGGCTGCAACCATGTTGCCGAAGTTCTGGAAAGGCAGCTGAATCTAATCTGAAGCAGGCTGGGAAAATTCCCGCAGTTCTAGGACCAGTTCTTTAGAGTTTTGCCAGGGACAACTGTTATTCCTCAAGAAGTGTACAGATGATTTTACAGTTTTATAGAATCTTAGTATATAGGATGTCAAATGTAGGACATTCCTACTATGACCACACCCTCCTATTCCCATAGCAGACTTCACTAATCAATCACAGAACACTTTCCTACAGACAGTGGACAAGCCTGGTCAATTTTCATCATAGTTCTTCAAGCTGCCACTACCAAACAATGGAGATAGCCCCAAAAGGAAACCTATTGGCCAGCCCTGGTGTAGTCCAACCCCATCTTTTATCTGATGGGGAAACTAGGTCTGGAGACAAAAGTGATTTAACCAAGTTCATGGAAAAGTCGTAGAGAATCTAAAACGTGATGCTCTTCTTCCATACCATGCCGTCAGCCCCTATGGGGTCCCAGGGTAAGGCTGTTACCTGTCTGGAATCGGAAGGGTGTGGTGAGGATGGGGCTTGTCCCTGGAGTGTGATCAGGCCAACCCATGCTTCTCTCCTTCCTTCCCCTTCCAGCTACGTGGTCCTGGACCTGATGGAAAGCGACCTGCACCAGATCATCCACTCCTCACAGCCCCTCACACTGGAACACGTGCGCTACTTCCTGTACCAACTGCTGCGGGGCCTGAAGTACATGCACTCGGCTCAGGTCATCCACCGTGACCTGAAGCCCTCCAACCTATTGGTGAATGAGAACTGTGAGCTCAAGATTGGTGACTTTGGTATGGCTCGTGGCCTGTGCACCTCGCCCGCTGAACATCAGTACTTCATGACTGAGTATGTGGCCACGCGCTGGTACCGTGCGCCCGAGCTCATGCTCTCTTTGCATGAGTATACACAGGCTATTGACCTCTGGTCTGTGGGCTGCATCTTTGGTGAGATGCTGGCCCGGCGCCAGCTCTTCCCAGGCAAAAACTATGTACACCAGCTACAGCTCATCATGATGGTGCTGGGTACCCCATCACCAGCCGTGATTCAGGCTGTGGGGGCTGAGAGGGTGCGGACCTATATCCAGAGCTTGCCACCACGCCAGCCTGTGCCCTGGGAGACAGTGTACCCAGGTGCCGACCGCCAGGCCCTATCACTGCTGGGTCGCATGCTGCGTTTTGAGCCCAGCGCTCGCATCTCAGCAGCTGCTGCCCTTCGCCACCCTTTCCTGGCCAAGTACCATGATCCTGATGATGAGCCTGACTGTGCCCCGCCCTTTGACTTTGCCTTTGACCGCGAAGCCCTCACTCGGGAGCGCATTAAGGAGGCCATTGTGGCTGAAATTGAGGACTTCCATGCAAGGCGTGAGGGCATCCGCCAACAGATCCGCTTCCAGCCTTCTCTACAGCCTGTGGCTAGTGAGCCTGGCTGTCCAGATGTTGAAATGCCCAGTCCCTGGGCTCCCAGTGGGGACTGTGCCATGGAGTCTCCACCACCAGCCCCGCCACCATGCCCCGGCCCTGCACCTGACACCATTGATCTGACCCTGCAGCCACCTCCACCAGTCAGTGAGCCTGCCCCACCAAAGAAAGATGGTGCCATCTCAGACAATACTAAGGCTGCCCTTAAAGCTGCCCTGCTCAAGTCTTTGAGGAGCCGGCTCAGAGGTGCCTTGTGGGCAGGTCGGGTGGGCAGAGGGGAGACTTGGACTTGGACAAGGCTTCAGGCTTTTACCTTCTCCCCTGCCCAACTTCCCCGCAGATGGCCCCAGCGCACCCCTGGAGGCTCCTGAGCCTCGGAAGCCGGTGACAGCCCAGGAGCGCCAGCGGGAGCGGGAGGAGAAGCGGCGGAGGCGGCAAGAACGAGCCAAGGAGCGGGAGAAACGGCGGCAGGAGCGGGAGCGAAAGGAACGGGGGGCTGGGGCCTCTGGGGGCCCCTCCACTGACCCCTTGGCTGGACTAGTGCTCAGTGACAATGACAGAAGCCTGTTGGAACGCTGGACTCGAATGGCCCGGCCCGCAGCCCCAGCCCTCACCTCTGTGCCGGCCCCTGCCCCAGCGCCAACGCCAACCCCAACCCCAGTCCAACCTACCAGTCCTCCTCCTGGCCCTGTAGCCCAGCCCACTGGCCCGCAACCACAATCTGCGGGCTCTACCTCTGGCCCTGTACCCCAGCCTGCCTGCCCACCCCCTGGCCCTGCACCCCACCCCACTGGCCCTCCTGGGCCCATCCCTGTCCCCGCGCCACCCCAGATTGCCACCTCCACCAGCCTCCTGGCTGCCCAGTCACTTGTGCCACCCCCTGGGCTGCCTGGCTCCAGCACCCCAGGAGTTTTGCCTTACTTCCCACCTGGCCTGCCGCCCCCAGACGCCGGGGGAGCCCCTCAGTCTTCCATGTCAGAGTCACCTGATGTCAACCTTGTGACCCAGCAGCTATCTAAGTCACAGGTGAGAGGGAGGCCCAGGCCATGGGGACACCTGGGTCTGGGCCAAAGGAAAATGGGTTCAGGAAGCGGTCAGTGTTCCACAAAAACTGAGCAGCAGATGGGGCTTTATCTCTGAACGTGTCCTCTTGCTCACAGAAGGAGCATAATGGCAATGAAGAGGTTGTTAGGAGACAAGTTAAATATGGCCTGCAAAGTGCCTAGCCCAGAGATGGGGCCAGCCAGCACTCACTGACTGCCGAGACTGGTGTTAGCACTCCCAGATATCCAGGCGGAGTAGTCAGCAGCATTGGGACAGGGTGGCCTACAGACCTCAGTCTGTCTGCATTGTAACCTGTCATTCCCTGCAGGTGGAGGACCCCCTGCCCCCTGTGTTCTCAGGCACACCAAAGGGCAGTGGGGCTGGCTACGGTGTTGGCTTTGACCTGGAGGAATTCTTAAACCAGTCTTTCGACATGGGCGTGGCTGATGGGCCACAGGATGGGTAAGGTGGCTGGACTGAGCTCCTAGACTGGGACTGTGGGGAGAGGTTCCTGGTGCAGGAGACATGCACCTGTGGGATGGGTGAGGGTCCAGCCTAGGCTAATAGCACCCCTCCCTTTCCTTCCCCTGCAGCCAGGCAGATTCAGCCTCTCTCTCAGCCTCCCTGCTTGCTGACTGGCTCGAAGGCCATGGCATGA
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Task1_train_23873
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A genetic alteration is present in MAPK7 (mitogen-activated protein kinase 7) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Scoliosis, isolated, susceptibility to, 1
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AGTTCTGGAAAGGCAGCTGAATCTAATCTGAAGCAGGCTGGGAAAATTCCCGCAGTTCTAGGACCAGTTCTTTAGAGTTTTGCCAGGGACAACTGTTATTCCTCAAGAAGTGTACAGATGATTTTACAGTTTTATAGAATCTTAGTATATAGGATGTCAAATGTAGGACATTCCTACTATGACCACACCCTCCTATTCCCATAGCAGACTTCACTAATCAATCACAGAACACTTTCCTACAGACAGTGGACAAGCCTGGTCAATTTTCATCATAGTTCTTCAAGCTGCCACTACCAAACAATGGAGATAGCCCCAAAAGGAAACCTATTGGCCAGCCCTGGTGTAGTCCAACCCCATCTTTTATCTGATGGGGAAACTAGGTCTGGAGACAAAAGTGATTTAACCAAGTTCATGGAAAAGTCGTAGAGAATCTAAAACGTGATGCTCTTCTTCCATACCATGCCGTCAGCCCCTATGGGGTCCCAGGGTAAGGCTGTTACCTGTCTGGAATCGGAAGGGTGTGGTGAGGATGGGGCTTGTCCCTGGAGTGTGATCAGGCCAACCCATGCTTCTCTCCTTCCTTCCCCTTCCAGCTACGTGGTCCTGGACCTGATGGAAAGCGACCTGCACCAGATCATCCACTCCTCACAGCCCCTCACACTGGAACACGTGCGCTACTTCCTGTACCAACTGCTGCGGGGCCTGAAGTACATGCACTCGGCTCAGGTCATCCACCGTGACCTGAAGCCCTCCAACCTATTGGTGAATGAGAACTGTGAGCTCAAGATTGGTGACTTTGGTATGGCTCGTGGCCTGTGCACCTCGCCCGCTGAACATCAGTACTTCATGACTGAGTATGTGGCCACGCGCTGGTACCGTGCGCCCGAGCTCATGCTCTCTTTGCATGAGTATACACAGGCTATTGACCTCTGGTCTGTGGGCTGCATCTTTGGTGAGATGCTGGCCCGGCGCCAGCTCTTCCCAGGCAAAAACTATGTACACCAGCTACAGCTCATCATGATGGTGCTGGGTACCCCATCACCAGCCGTGATTCAGGCTGTGGGGGCTGAGAGGGTGCGGGCCTATATCCAGAGCTTGCCACCACGCCAGCCTGTGCCCTGGGAGACAGTGTACCCAGGTGCCGACCGCCAGGCCCTATCACTGCTGGGTCGCATGCTGCGTTTTGAGCCCAGCGCTCGCATCTCAGCAGCTGCTGCCCTTCGCCACCCTTTCCTGGCCAAGTACCATGATCCTGATGATGAGCCTGACTGTGCCCCGCCCTTTGACTTTGCCTTTGACCGCGAAGCCCTCACTCGGGAGCGCATTAAGGAGGCCATTGTGGCTGAAATTGAGGACTTCCATGCAAGGCGTGAGGGCATCCGCCAACAGATCCGCTTCCAGCCTTCTCTACAGCCTGTGGCTAGTGAGCCTGGCTGTCCAGATGTTGAAATGCCCAGTCCCTGGGCTCCCAGTGGGGACTGTGCCATGGAGTCTCCACCACCAGCCCCGCCACCATGCCCCGGCCCTGCACCTGACACCATTGATCTGACCCTGCAGCCACCTCCACCAGTCAGTGAGCCTGCCCCACCAAAGAAAGATGGTGCCATCTCAGACAATACTAAGGCTGCCCTTAAAGCTGCCCTGCTCAAGTCTTTGAGGAGCCGGCTCAGAGGTGCCTTGTGGGCAGGTCGGGTGGGCAGAGGGGAGACTTGGACTTGGACAAGGCTTCAGGCTTTTACCTTCTCCCCTGCCCAACTTCCCCGCAGATGGCCCCAGCGCACCCCTGGAGGCTCCTGAGCCTCGGAAGCCGGTGACAGCCCAGGAGCGCCAGCGGGAGCGGGAGGAGAAGCGGCGGAGGCGGCAAGAACGAGCCAAGGAGCGGGAGAAACGGCGGCAGGAGCGGGAGCGAAAGGAACGGGGGGCTGGGGCCTCTGGGGGCCCCTCCACTGACCCCTTGGCTGGACTAGTGCTCAGTGACAATGACAGAAGCCTGTTGGAACGCTGGACTCGAATGGCCCGGCCCGCAGCCCCAGCCCTCACCTCTGTGCCGGCCCCTGCCCCAGCGCCAACGCCAACCCCAACCCCAGTCCAACCTACCAGTCCTCCTCCTGGCCCTGTAGCCCAGCCCACTGGCCCGCAACCACAATCTGCGGGCTCTACCTCTGGCCCTGTACCCCAGCCTGCCTGCCCACCCCCTGGCCCTGCACCCCACCCCACTGGCCCTCCTGGGCCCATCCCTGTCCCCGCGCCACCCCAGATTGCCACCTCCACCAGCCTCCTGGCTGCCCAGTCACTTGTGCCACCCCCTGGGCTGCCTGGCTCCAGCACCCCAGGAGTTTTGCCTTACTTCCCACCTGGCCTGCCGCCCCCAGACGCCGGGGGAGCCCCTCAGTCTTCCATGTCAGAGTCACCTGATGTCAACCTTGTGACCCAGCAGCTATCTAAGTCACAGGTGAGAGGGAGGCCCAGGCCATGGGGACACCTGGGTCTGGGCCAAAGGAAAATGGGTTCAGGAAGCGGTCAGTGTTCCACAAAAACTGAGCAGCAGATGGGGCTTTATCTCTGAACGTGTCCTCTTGCTCACAGAAGGAGCATAATGGCAATGAAGAGGTTGTTAGGAGACAAGTTAAATATGGCCTGCAAAGTGCCTAGCCCAGAGATGGGGCCAGCCAGCACTCACTGACTGCCGAGACTGGTGTTAGCACTCCCAGATATCCAGGCGGAGTAGTCAGCAGCATTGGGACAGGGTGGCCTACAGACCTCAGTCTGTCTGCATTGTAACCTGTCATTCCCTGCAGGTGGAGGACCCCCTGCCCCCTGTGTTCTCAGGCACACCAAAGGGCAGTGGGGCTGGCTACGGTGTTGGCTTTGACCTGGAGGAATTCTTAAACCAGTCTTTCGACATGGGCGTGGCTGATGGGCCACAGGATGGGTAAGGTGGCTGGACTGAGCTCCTAGACTGGGACTGTGGGGAGAGGTTCCTGGTGCAGGAGACATGCACCTGTGGGATGGGTGAGGGTCCAGCCTAGGCTAATAGCACCCCTCCCTTTCCTTCCCCTGCAGCCAGGCAGATTCAGCCTCTCTCTCAGCCTCCCTGCTTGCTGACTGGCTCGAAGGCCATGGCATGAACCCTGCCGATATTGAGTCCCTGCAGCGTGAGATCCAGATGGACTCCCCAATGCTGCTGGCTGACCTGCCTGACCTCCAGGACCCCTGAGGCCCCCAGCCTGTGCCTTGCTGCCACAGTAGACCTAGTTCCAGGATCCATGGGAGCATTCTCAAAGGCTTTAGCCCTGGACCCAGCAGGTGAGGCTCGGCTTGGATTATTCTGCAGGTTCATCTCAGACCCACCTTTCAGCCTTAAGCAGCCACCTGAGCCACCACCGAGCCATGGCAGGATCGGGAGACCCCAACTCCCCCTGAACAATCCTTTTCAGTATTATATTTTTATTATTATTATGTTATTATTACACTGTCTTTTTGCCATCAAAATGAGGCCTGTGAAATACAAGGTTCCCTTCTGCACCTGACTCCAGGTGTAATTTTTGGAGTTCGGGGTAGGACACCATCAGCAGGGGAGCAAGGAGGAGCCAGGTGCCTACATTTGGGGGATAAACAAATATGTTTGTGTGTATGAAGCCAGTTCATTCAGGTTCTGAAGGTTTATTGAGACCTTCAGTCCCTACCCACTCCCAGCCCTGCAGAGATTGTCCTCTGCTCCCTCATGTGGCTAAACCTCTCAACACCCAGAGGGTATGGGGAAGACCTCATATGCATGCCTACCTTGGCTGTGGCTGTTTCAGGGTGGTGTGCGGTAGCTGTGTTCTTGGCATAGAGCTTCAGGGGCTGGGATGGGCCATCAGGGGAAGCTGAGTATGATAGTGAGGTGGGCTGGGGTTCCACGGTACTCACCACAGGGGAGTAAGTTGGTGGGAGGGATGCTGAAGATGGGACATGGTTTGAGAGCAGCCCAGAGGAGTGCTGGGCTGTGGCCTAGAATACACCATGGGCCCTGTTCACACTGCACTGCTCAGCTTAGCACACTAGGGTGGCCCAGACAGGGGTCCACAGTGAGGAAGCAGGACAAGATGGACCA
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AGTTCTGGAAAGGCAGCTGAATCTAATCTGAAGCAGGCTGGGAAAATTCCCGCAGTTCTAGGACCAGTTCTTTAGAGTTTTGCCAGGGACAACTGTTATTCCTCAAGAAGTGTACAGATGATTTTACAGTTTTATAGAATCTTAGTATATAGGATGTCAAATGTAGGACATTCCTACTATGACCACACCCTCCTATTCCCATAGCAGACTTCACTAATCAATCACAGAACACTTTCCTACAGACAGTGGACAAGCCTGGTCAATTTTCATCATAGTTCTTCAAGCTGCCACTACCAAACAATGGAGATAGCCCCAAAAGGAAACCTATTGGCCAGCCCTGGTGTAGTCCAACCCCATCTTTTATCTGATGGGGAAACTAGGTCTGGAGACAAAAGTGATTTAACCAAGTTCATGGAAAAGTCGTAGAGAATCTAAAACGTGATGCTCTTCTTCCATACCATGCCGTCAGCCCCTATGGGGTCCCAGGGTAAGGCTGTTACCTGTCTGGAATCGGAAGGGTGTGGTGAGGATGGGGCTTGTCCCTGGAGTGTGATCAGGCCAACCCATGCTTCTCTCCTTCCTTCCCCTTCCAGCTACGTGGTCCTGGACCTGATGGAAAGCGACCTGCACCAGATCATCCACTCCTCACAGCCCCTCACACTGGAACACGTGCGCTACTTCCTGTACCAACTGCTGCGGGGCCTGAAGTACATGCACTCGGCTCAGGTCATCCACCGTGACCTGAAGCCCTCCAACCTATTGGTGAATGAGAACTGTGAGCTCAAGATTGGTGACTTTGGTATGGCTCGTGGCCTGTGCACCTCGCCCGCTGAACATCAGTACTTCATGACTGAGTATGTGGCCACGCGCTGGTACCGTGCGCCCGAGCTCATGCTCTCTTTGCATGAGTATACACAGGCTATTGACCTCTGGTCTGTGGGCTGCATCTTTGGTGAGATGCTGGCCCGGCGCCAGCTCTTCCCAGGCAAAAACTATGTACACCAGCTACAGCTCATCATGATGGTGCTGGGTACCCCATCACCAGCCGTGATTCAGGCTGTGGGGGCTGAGAGGGTGCGGGCCTATATCCAGAGCTTGCCACCACGCCAGCCTGTGCCCTGGGAGACAGTGTACCCAGGTGCCGACCGCCAGGCCCTATCACTGCTGGGTCGCATGCTGCGTTTTGAGCCCAGCGCTCGCATCTCAGCAGCTGCTGCCCTTCGCCACCCTTTCCTGGCCAAGTACCATGATCCTGATGATGAGCCTGACTGTGCCCCGCCCTTTGACTTTGCCTTTGACCGCGAAGCCCTCACTCGGGAGCGCATTAAGGAGGCCATTGTGGCTGAAATTGAGGACTTCCATGCAAGGCGTGAGGGCATCCGCCAACAGATCCGCTTCCAGCCTTCTCTACAGCCTGTGGCTAGTGAGCCTGGCTGTCCAGATGTTGAAATGCCCAGTCCCTGGGCTCCCAGTGGGGACTGTGCCATGGAGTCTCCACCACCAGCCCCGCCACCATGCCCCGGCCCTGCACCTGACACCATTGATCTGACCCTGCAGCCACCTCCACCAGTCAGTGAGCCTGCCCCACCAAAGAAAGATGGTGCCATCTCAGACAATACTAAGGCTGCCCTTAAAGCTGCCCTGCTCAAGTCTTTGAGGAGCCGGCTCAGAGGTGCCTTGTGGGCAGGTCGGGTGGGCAGAGGGGAGACTTGGACTTGGACAAGGCTTCAGGCTTTTACCTTCTCCCCTGCCCAACTTCCCCGCAGATGGCCCCAGCGCACCCCTGGAGGCTCCTGAGCCTCGGAAGCCGGTGACAGCCCAGGAGCGCCAGCGGGAGCGGGAGGAGAAGCGGCGGAGGCGGCAAGAACGAGCCAAGGAGCGGGAGAAACGGCGGCAGGAGCGGGAGCGAAAGGAACGGGGGGCTGGGGCCTCTGGGGGCCCCTCCACTGACCCCTTGGCTGGACTAGTGCTCAGTGACAATGACAGAAGCCTGTTGGAACGCTGGACTCGAATGGCCCGGCCCGCAGCCCCAGCCCTCACCTCTGTGCTGGCCCCTGCCCCAGCGCCAACGCCAACCCCAACCCCAGTCCAACCTACCAGTCCTCCTCCTGGCCCTGTAGCCCAGCCCACTGGCCCGCAACCACAATCTGCGGGCTCTACCTCTGGCCCTGTACCCCAGCCTGCCTGCCCACCCCCTGGCCCTGCACCCCACCCCACTGGCCCTCCTGGGCCCATCCCTGTCCCCGCGCCACCCCAGATTGCCACCTCCACCAGCCTCCTGGCTGCCCAGTCACTTGTGCCACCCCCTGGGCTGCCTGGCTCCAGCACCCCAGGAGTTTTGCCTTACTTCCCACCTGGCCTGCCGCCCCCAGACGCCGGGGGAGCCCCTCAGTCTTCCATGTCAGAGTCACCTGATGTCAACCTTGTGACCCAGCAGCTATCTAAGTCACAGGTGAGAGGGAGGCCCAGGCCATGGGGACACCTGGGTCTGGGCCAAAGGAAAATGGGTTCAGGAAGCGGTCAGTGTTCCACAAAAACTGAGCAGCAGATGGGGCTTTATCTCTGAACGTGTCCTCTTGCTCACAGAAGGAGCATAATGGCAATGAAGAGGTTGTTAGGAGACAAGTTAAATATGGCCTGCAAAGTGCCTAGCCCAGAGATGGGGCCAGCCAGCACTCACTGACTGCCGAGACTGGTGTTAGCACTCCCAGATATCCAGGCGGAGTAGTCAGCAGCATTGGGACAGGGTGGCCTACAGACCTCAGTCTGTCTGCATTGTAACCTGTCATTCCCTGCAGGTGGAGGACCCCCTGCCCCCTGTGTTCTCAGGCACACCAAAGGGCAGTGGGGCTGGCTACGGTGTTGGCTTTGACCTGGAGGAATTCTTAAACCAGTCTTTCGACATGGGCGTGGCTGATGGGCCACAGGATGGGTAAGGTGGCTGGACTGAGCTCCTAGACTGGGACTGTGGGGAGAGGTTCCTGGTGCAGGAGACATGCACCTGTGGGATGGGTGAGGGTCCAGCCTAGGCTAATAGCACCCCTCCCTTTCCTTCCCCTGCAGCCAGGCAGATTCAGCCTCTCTCTCAGCCTCCCTGCTTGCTGACTGGCTCGAAGGCCATGGCATGAACCCTGCCGATATTGAGTCCCTGCAGCGTGAGATCCAGATGGACTCCCCAATGCTGCTGGCTGACCTGCCTGACCTCCAGGACCCCTGAGGCCCCCAGCCTGTGCCTTGCTGCCACAGTAGACCTAGTTCCAGGATCCATGGGAGCATTCTCAAAGGCTTTAGCCCTGGACCCAGCAGGTGAGGCTCGGCTTGGATTATTCTGCAGGTTCATCTCAGACCCACCTTTCAGCCTTAAGCAGCCACCTGAGCCACCACCGAGCCATGGCAGGATCGGGAGACCCCAACTCCCCCTGAACAATCCTTTTCAGTATTATATTTTTATTATTATTATGTTATTATTACACTGTCTTTTTGCCATCAAAATGAGGCCTGTGAAATACAAGGTTCCCTTCTGCACCTGACTCCAGGTGTAATTTTTGGAGTTCGGGGTAGGACACCATCAGCAGGGGAGCAAGGAGGAGCCAGGTGCCTACATTTGGGGGATAAACAAATATGTTTGTGTGTATGAAGCCAGTTCATTCAGGTTCTGAAGGTTTATTGAGACCTTCAGTCCCTACCCACTCCCAGCCCTGCAGAGATTGTCCTCTGCTCCCTCATGTGGCTAAACCTCTCAACACCCAGAGGGTATGGGGAAGACCTCATATGCATGCCTACCTTGGCTGTGGCTGTTTCAGGGTGGTGTGCGGTAGCTGTGTTCTTGGCATAGAGCTTCAGGGGCTGGGATGGGCCATCAGGGGAAGCTGAGTATGATAGTGAGGTGGGCTGGGGTTCCACGGTACTCACCACAGGGGAGTAAGTTGGTGGGAGGGATGCTGAAGATGGGACATGGTTTGAGAGCAGCCCAGAGGAGTGCTGGGCTGTGGCCTAGAATACACCATGGGCCCTGTTCACACTGCACTGCTCAGCTTAGCACACTAGGGTGGCCCAGACAGGGGTCCACAGTGAGGAAGCAGGACAAGATGGACCA
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Task1_train_23874
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A mutation in MAPK7 (mitogen-activated protein kinase 7), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Scoliosis, isolated, susceptibility to, 1
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CACACCCTCCTATTCCCATAGCAGACTTCACTAATCAATCACAGAACACTTTCCTACAGACAGTGGACAAGCCTGGTCAATTTTCATCATAGTTCTTCAAGCTGCCACTACCAAACAATGGAGATAGCCCCAAAAGGAAACCTATTGGCCAGCCCTGGTGTAGTCCAACCCCATCTTTTATCTGATGGGGAAACTAGGTCTGGAGACAAAAGTGATTTAACCAAGTTCATGGAAAAGTCGTAGAGAATCTAAAACGTGATGCTCTTCTTCCATACCATGCCGTCAGCCCCTATGGGGTCCCAGGGTAAGGCTGTTACCTGTCTGGAATCGGAAGGGTGTGGTGAGGATGGGGCTTGTCCCTGGAGTGTGATCAGGCCAACCCATGCTTCTCTCCTTCCTTCCCCTTCCAGCTACGTGGTCCTGGACCTGATGGAAAGCGACCTGCACCAGATCATCCACTCCTCACAGCCCCTCACACTGGAACACGTGCGCTACTTCCTGTACCAACTGCTGCGGGGCCTGAAGTACATGCACTCGGCTCAGGTCATCCACCGTGACCTGAAGCCCTCCAACCTATTGGTGAATGAGAACTGTGAGCTCAAGATTGGTGACTTTGGTATGGCTCGTGGCCTGTGCACCTCGCCCGCTGAACATCAGTACTTCATGACTGAGTATGTGGCCACGCGCTGGTACCGTGCGCCCGAGCTCATGCTCTCTTTGCATGAGTATACACAGGCTATTGACCTCTGGTCTGTGGGCTGCATCTTTGGTGAGATGCTGGCCCGGCGCCAGCTCTTCCCAGGCAAAAACTATGTACACCAGCTACAGCTCATCATGATGGTGCTGGGTACCCCATCACCAGCCGTGATTCAGGCTGTGGGGGCTGAGAGGGTGCGGGCCTATATCCAGAGCTTGCCACCACGCCAGCCTGTGCCCTGGGAGACAGTGTACCCAGGTGCCGACCGCCAGGCCCTATCACTGCTGGGTCGCATGCTGCGTTTTGAGCCCAGCGCTCGCATCTCAGCAGCTGCTGCCCTTCGCCACCCTTTCCTGGCCAAGTACCATGATCCTGATGATGAGCCTGACTGTGCCCCGCCCTTTGACTTTGCCTTTGACCGCGAAGCCCTCACTCGGGAGCGCATTAAGGAGGCCATTGTGGCTGAAATTGAGGACTTCCATGCAAGGCGTGAGGGCATCCGCCAACAGATCCGCTTCCAGCCTTCTCTACAGCCTGTGGCTAGTGAGCCTGGCTGTCCAGATGTTGAAATGCCCAGTCCCTGGGCTCCCAGTGGGGACTGTGCCATGGAGTCTCCACCACCAGCCCCGCCACCATGCCCCGGCCCTGCACCTGACACCATTGATCTGACCCTGCAGCCACCTCCACCAGTCAGTGAGCCTGCCCCACCAAAGAAAGATGGTGCCATCTCAGACAATACTAAGGCTGCCCTTAAAGCTGCCCTGCTCAAGTCTTTGAGGAGCCGGCTCAGAGGTGCCTTGTGGGCAGGTCGGGTGGGCAGAGGGGAGACTTGGACTTGGACAAGGCTTCAGGCTTTTACCTTCTCCCCTGCCCAACTTCCCCGCAGATGGCCCCAGCGCACCCCTGGAGGCTCCTGAGCCTCGGAAGCCGGTGACAGCCCAGGAGCGCCAGCGGGAGCGGGAGGAGAAGCGGCGGAGGCGGCAAGAACGAGCCAAGGAGCGGGAGAAACGGCGGCAGGAGCGGGAGCGAAAGGAACGGGGGGCTGGGGCCTCTGGGGGCCCCTCCACTGACCCCTTGGCTGGACTAGTGCTCAGTGACAATGACAGAAGCCTGTTGGAACGCTGGACTCGAATGGCCCGGCCCGCAGCCCCAGCCCTCACCTCTGTGCCGGCCCCTGCCCCAGCGCCAACGCCAACCCCAACCCCAGTCCAACCTACCAGTCCTCCTCCTGGCCCTGTAGCCCAGCCCACTGGCCCGCAACCACAATCTGCGGGCTCTACCTCTGGCCCTGTACCCCAGCCTGCCTGCCCACCCCCTGGCCCTGCACCCCACCCCACTGGCCCTCCTGGGCCCATCCCTGTCCCCGCGCCACCCCAGATTGCCACCTCCACCAGCCTCCTGGCTGCCCAGTCACTTGTGCCACCCCCTGGGCTGCCTGGCTCCAGCACCCCAGGAGTTTTGCCTTACTTCCCACCTGGCCTGCCGCCCCCAGACGCCGGGGGAGCCCCTCAGTCTTCCATGTCAGAGTCACCTGATGTCAACCTTGTGACCCAGCAGCTATCTAAGTCACAGGTGAGAGGGAGGCCCAGGCCATGGGGACACCTGGGTCTGGGCCAAAGGAAAATGGGTTCAGGAAGCGGTCAGTGTTCCACAAAAACTGAGCAGCAGATGGGGCTTTATCTCTGAACGTGTCCTCTTGCTCACAGAAGGAGCATAATGGCAATGAAGAGGTTGTTAGGAGACAAGTTAAATATGGCCTGCAAAGTGCCTAGCCCAGAGATGGGGCCAGCCAGCACTCACTGACTGCCGAGACTGGTGTTAGCACTCCCAGATATCCAGGCGGAGTAGTCAGCAGCATTGGGACAGGGTGGCCTACAGACCTCAGTCTGTCTGCATTGTAACCTGTCATTCCCTGCAGGTGGAGGACCCCCTGCCCCCTGTGTTCTCAGGCACACCAAAGGGCAGTGGGGCTGGCTACGGTGTTGGCTTTGACCTGGAGGAATTCTTAAACCAGTCTTTCGACATGGGCGTGGCTGATGGGCCACAGGATGGGTAAGGTGGCTGGACTGAGCTCCTAGACTGGGACTGTGGGGAGAGGTTCCTGGTGCAGGAGACATGCACCTGTGGGATGGGTGAGGGTCCAGCCTAGGCTAATAGCACCCCTCCCTTTCCTTCCCCTGCAGCCAGGCAGATTCAGCCTCTCTCTCAGCCTCCCTGCTTGCTGACTGGCTCGAAGGCCATGGCATGAACCCTGCCGATATTGAGTCCCTGCAGCGTGAGATCCAGATGGACTCCCCAATGCTGCTGGCTGACCTGCCTGACCTCCAGGACCCCTGAGGCCCCCAGCCTGTGCCTTGCTGCCACAGTAGACCTAGTTCCAGGATCCATGGGAGCATTCTCAAAGGCTTTAGCCCTGGACCCAGCAGGTGAGGCTCGGCTTGGATTATTCTGCAGGTTCATCTCAGACCCACCTTTCAGCCTTAAGCAGCCACCTGAGCCACCACCGAGCCATGGCAGGATCGGGAGACCCCAACTCCCCCTGAACAATCCTTTTCAGTATTATATTTTTATTATTATTATGTTATTATTACACTGTCTTTTTGCCATCAAAATGAGGCCTGTGAAATACAAGGTTCCCTTCTGCACCTGACTCCAGGTGTAATTTTTGGAGTTCGGGGTAGGACACCATCAGCAGGGGAGCAAGGAGGAGCCAGGTGCCTACATTTGGGGGATAAACAAATATGTTTGTGTGTATGAAGCCAGTTCATTCAGGTTCTGAAGGTTTATTGAGACCTTCAGTCCCTACCCACTCCCAGCCCTGCAGAGATTGTCCTCTGCTCCCTCATGTGGCTAAACCTCTCAACACCCAGAGGGTATGGGGAAGACCTCATATGCATGCCTACCTTGGCTGTGGCTGTTTCAGGGTGGTGTGCGGTAGCTGTGTTCTTGGCATAGAGCTTCAGGGGCTGGGATGGGCCATCAGGGGAAGCTGAGTATGATAGTGAGGTGGGCTGGGGTTCCACGGTACTCACCACAGGGGAGTAAGTTGGTGGGAGGGATGCTGAAGATGGGACATGGTTTGAGAGCAGCCCAGAGGAGTGCTGGGCTGTGGCCTAGAATACACCATGGGCCCTGTTCACACTGCACTGCTCAGCTTAGCACACTAGGGTGGCCCAGACAGGGGTCCACAGTGAGGAAGCAGGACAAGATGGACCACAAAGGCCTGCAGCTGGGAGAGTGGCTCCTGGCTGTCAGCTGTTGGGACAGGTTGGAGGCAACTCATTCTCATGGAGCCCAGCCAGGTCCAGGCTAGAACCATGTGCCTCTCGGAAGAGGCCTGGGGAACTGCTGGCAGTGTAACTTCAGGTGTAGGGGAGCCGGGTCTGGCTTAGGAATGGA
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CACACCCTCCTATTCCCATAGCAGACTTCACTAATCAATCACAGAACACTTTCCTACAGACAGTGGACAAGCCTGGTCAATTTTCATCATAGTTCTTCAAGCTGCCACTACCAAACAATGGAGATAGCCCCAAAAGGAAACCTATTGGCCAGCCCTGGTGTAGTCCAACCCCATCTTTTATCTGATGGGGAAACTAGGTCTGGAGACAAAAGTGATTTAACCAAGTTCATGGAAAAGTCGTAGAGAATCTAAAACGTGATGCTCTTCTTCCATACCATGCCGTCAGCCCCTATGGGGTCCCAGGGTAAGGCTGTTACCTGTCTGGAATCGGAAGGGTGTGGTGAGGATGGGGCTTGTCCCTGGAGTGTGATCAGGCCAACCCATGCTTCTCTCCTTCCTTCCCCTTCCAGCTACGTGGTCCTGGACCTGATGGAAAGCGACCTGCACCAGATCATCCACTCCTCACAGCCCCTCACACTGGAACACGTGCGCTACTTCCTGTACCAACTGCTGCGGGGCCTGAAGTACATGCACTCGGCTCAGGTCATCCACCGTGACCTGAAGCCCTCCAACCTATTGGTGAATGAGAACTGTGAGCTCAAGATTGGTGACTTTGGTATGGCTCGTGGCCTGTGCACCTCGCCCGCTGAACATCAGTACTTCATGACTGAGTATGTGGCCACGCGCTGGTACCGTGCGCCCGAGCTCATGCTCTCTTTGCATGAGTATACACAGGCTATTGACCTCTGGTCTGTGGGCTGCATCTTTGGTGAGATGCTGGCCCGGCGCCAGCTCTTCCCAGGCAAAAACTATGTACACCAGCTACAGCTCATCATGATGGTGCTGGGTACCCCATCACCAGCCGTGATTCAGGCTGTGGGGGCTGAGAGGGTGCGGGCCTATATCCAGAGCTTGCCACCACGCCAGCCTGTGCCCTGGGAGACAGTGTACCCAGGTGCCGACCGCCAGGCCCTATCACTGCTGGGTCGCATGCTGCGTTTTGAGCCCAGCGCTCGCATCTCAGCAGCTGCTGCCCTTCGCCACCCTTTCCTGGCCAAGTACCATGATCCTGATGATGAGCCTGACTGTGCCCCGCCCTTTGACTTTGCCTTTGACCGCGAAGCCCTCACTCGGGAGCGCATTAAGGAGGCCATTGTGGCTGAAATTGAGGACTTCCATGCAAGGCGTGAGGGCATCCGCCAACAGATCCGCTTCCAGCCTTCTCTACAGCCTGTGGCTAGTGAGCCTGGCTGTCCAGATGTTGAAATGCCCAGTCCCTGGGCTCCCAGTGGGGACTGTGCCATGGAGTCTCCACCACCAGCCCCGCCACCATGCCCCGGCCCTGCACCTGACACCATTGATCTGACCCTGCAGCCACCTCCACCAGTCAGTGAGCCTGCCCCACCAAAGAAAGATGGTGCCATCTCAGACAATACTAAGGCTGCCCTTAAAGCTGCCCTGCTCAAGTCTTTGAGGAGCCGGCTCAGAGGTGCCTTGTGGGCAGGTCGGGTGGGCAGAGGGGAGACTTGGACTTGGACAAGGCTTCAGGCTTTTACCTTCTCCCCTGCCCAACTTCCCCGCAGATGGCCCCAGCGCACCCCTGGAGGCTCCTGAGCCTCGGAAGCCGGTGACAGCCCAGGAGCGCCAGCGGGAGCGGGAGGAGAAGCGGCGGAGGCGGCAAGAACGAGCCAAGGAGCGGGAGAAACGGCGGCAGGAGCGGGAGCGAAAGGAACGGGGGGCTGGGGCCTCTGGGGGCCCCTCCACTGACCCCTTGGCTGGACTAGTGCTCAGTGACAATGACAGAAGCCTGTTGGAACGCTGGACTCGAATGGCCCGGCCCGCAGCCCCAGCCCTCACCTCTGTGCCGGCCCCTGCCCCAGCGCCAACGCCAACCCCAACCCCAGTCCAACCTACCAGTCCTCCTCCTGGCCCTGTAGCCCAGCCCACTGGCCCGCAACCACAATCTGCGGGCTCTACCTCTGGCCCTGTACCCCAGCCTGCCTGCCCACCCCCTGGCCCTGCACCCCACCCCACTGGCCCTCCTGGGCTCATCCCTGTCCCCGCGCCACCCCAGATTGCCACCTCCACCAGCCTCCTGGCTGCCCAGTCACTTGTGCCACCCCCTGGGCTGCCTGGCTCCAGCACCCCAGGAGTTTTGCCTTACTTCCCACCTGGCCTGCCGCCCCCAGACGCCGGGGGAGCCCCTCAGTCTTCCATGTCAGAGTCACCTGATGTCAACCTTGTGACCCAGCAGCTATCTAAGTCACAGGTGAGAGGGAGGCCCAGGCCATGGGGACACCTGGGTCTGGGCCAAAGGAAAATGGGTTCAGGAAGCGGTCAGTGTTCCACAAAAACTGAGCAGCAGATGGGGCTTTATCTCTGAACGTGTCCTCTTGCTCACAGAAGGAGCATAATGGCAATGAAGAGGTTGTTAGGAGACAAGTTAAATATGGCCTGCAAAGTGCCTAGCCCAGAGATGGGGCCAGCCAGCACTCACTGACTGCCGAGACTGGTGTTAGCACTCCCAGATATCCAGGCGGAGTAGTCAGCAGCATTGGGACAGGGTGGCCTACAGACCTCAGTCTGTCTGCATTGTAACCTGTCATTCCCTGCAGGTGGAGGACCCCCTGCCCCCTGTGTTCTCAGGCACACCAAAGGGCAGTGGGGCTGGCTACGGTGTTGGCTTTGACCTGGAGGAATTCTTAAACCAGTCTTTCGACATGGGCGTGGCTGATGGGCCACAGGATGGGTAAGGTGGCTGGACTGAGCTCCTAGACTGGGACTGTGGGGAGAGGTTCCTGGTGCAGGAGACATGCACCTGTGGGATGGGTGAGGGTCCAGCCTAGGCTAATAGCACCCCTCCCTTTCCTTCCCCTGCAGCCAGGCAGATTCAGCCTCTCTCTCAGCCTCCCTGCTTGCTGACTGGCTCGAAGGCCATGGCATGAACCCTGCCGATATTGAGTCCCTGCAGCGTGAGATCCAGATGGACTCCCCAATGCTGCTGGCTGACCTGCCTGACCTCCAGGACCCCTGAGGCCCCCAGCCTGTGCCTTGCTGCCACAGTAGACCTAGTTCCAGGATCCATGGGAGCATTCTCAAAGGCTTTAGCCCTGGACCCAGCAGGTGAGGCTCGGCTTGGATTATTCTGCAGGTTCATCTCAGACCCACCTTTCAGCCTTAAGCAGCCACCTGAGCCACCACCGAGCCATGGCAGGATCGGGAGACCCCAACTCCCCCTGAACAATCCTTTTCAGTATTATATTTTTATTATTATTATGTTATTATTACACTGTCTTTTTGCCATCAAAATGAGGCCTGTGAAATACAAGGTTCCCTTCTGCACCTGACTCCAGGTGTAATTTTTGGAGTTCGGGGTAGGACACCATCAGCAGGGGAGCAAGGAGGAGCCAGGTGCCTACATTTGGGGGATAAACAAATATGTTTGTGTGTATGAAGCCAGTTCATTCAGGTTCTGAAGGTTTATTGAGACCTTCAGTCCCTACCCACTCCCAGCCCTGCAGAGATTGTCCTCTGCTCCCTCATGTGGCTAAACCTCTCAACACCCAGAGGGTATGGGGAAGACCTCATATGCATGCCTACCTTGGCTGTGGCTGTTTCAGGGTGGTGTGCGGTAGCTGTGTTCTTGGCATAGAGCTTCAGGGGCTGGGATGGGCCATCAGGGGAAGCTGAGTATGATAGTGAGGTGGGCTGGGGTTCCACGGTACTCACCACAGGGGAGTAAGTTGGTGGGAGGGATGCTGAAGATGGGACATGGTTTGAGAGCAGCCCAGAGGAGTGCTGGGCTGTGGCCTAGAATACACCATGGGCCCTGTTCACACTGCACTGCTCAGCTTAGCACACTAGGGTGGCCCAGACAGGGGTCCACAGTGAGGAAGCAGGACAAGATGGACCACAAAGGCCTGCAGCTGGGAGAGTGGCTCCTGGCTGTCAGCTGTTGGGACAGGTTGGAGGCAACTCATTCTCATGGAGCCCAGCCAGGTCCAGGCTAGAACCATGTGCCTCTCGGAAGAGGCCTGGGGAACTGCTGGCAGTGTAACTTCAGGTGTAGGGGAGCCGGGTCTGGCTTAGGAATGGA
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Task1_train_23875
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Given this variant in gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Sjögren-Larsson syndrome
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GGCCCGGCGAGAATTCGAGTGTGGCGCTGGTGGGCTGGCATTGCTGGGGGACCCGGGGCACCCTCCTCAGCAGCTGGCCCAGGTGCTAAGCCCCTCATTGCCCAGGGCTGGCGGCGCCGGCCAGCTGCTCCGAGTGTGGGGCCCATTGAGCCTGCGCCCACCCAGAACTCGCTCTGGCTTGTGAGCGCCACGCGCAGCCCCGGTTCCTGCCTGCGCCTCTCCCTCCACACCTTCCCACAAGCAGAAGGAGCCGGCTCCAGCCTTGGCCAGCCCAGAGAGGGGCTCCCACAGTGCAGCTGTGGGCTGAAGGGCTCCTCAAGCGTGGCGAGAGTGGGTGCCAAGGCCAAGGAGGTGCTGAGAGCGAGCAAGGGTTGCCCGCACGCTCTCACCTCTCACCCAGCCTATAAGAGTACTTCTGCTTTCAAAAAAGACATGTCTGTGGCATGAAAACATGCCACACATACACAAAAAGTGCCCTCCTGAACTAGAGGGCAGATCCTCACACTGACTTAACATGCTGGCATTTAAGAATATCAAGAACTGAATAAAGAAAATGATCTGCCCAACTGCGGGTAGTTCATCTGTCTGAGTCAGAGGTTCTTATGCCTTCCTGGGGAGGAAGTTATGATGCCGCGAAGAAATTGGCACTGCTGAGTTCTACATGCAGTTGCTACAGGGAGGAGTCTTCATTTAGCTTTAAGCGAAATACAGCTTAAAAATATCTTACCTGTATTCTGTACATCAACTTGTGATGGATTGAGGCCAGTTCTGGTTCTTGGAATGATATTTTTCTCTTTGTTAGAGCCATTTTGTTCTAATAGCTGTGATGATCCAATCAAGAAAGATGAAATGGAAGACAGTGAGATGTCAAGGATTGAATAGGACGTAGAACCAGAAGATAGAGGTTGAAGGTACCGCTTTGCCCCTGACCAGGGGTAAATTCTTCAATAACTGACTCTGTCCGGATAAGGAGGATAATAATGCTCTACCAGCTTCAGTTACCGTGTTAGGGGATCAATAATATATGCTATGTAGATTAAGCCATAGAAAAGTTAAAGCTTGAAACATTTGTTGGGCAGCTGAACCATGAAGTGAATGAAATTAATTCGCCTTCAAGTGGAAACATGAGATCCACAAGCCAGCTTTTACTTCACACTTCCACCTTGGAGTCTTGAATACCTCTCTGTCTTCCTTGCTTGCCATCTGTTCTCTTACTTTTGATGCTGTTATTGTCCAAGATGTTCTCTCTTAGAATAGCTGGTAATGATAGCACAATGCATAGATGGGCTCAGTCCACAGAAGCTACGTGAATTCTCCCAGTAACAGATGAGGAAATTGAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGTGTTGTGAGACAGAGAACATTCAGACTAAGACATGCATGACCTGTCCTGTGGGAGCCACTCTTCACCAGAGGCACTTCTGCACACACCCGCGTCTCATGCATTTTCCCTGGTCAAATTCAACCATTTGTTCTCCTTAGTGTCTTTGTTGCTGAGCTCATGTAAAAAAACACTGGAGTCTCCAGATTAGTTCTATGTGGGTTCATGCTTCCCAGATGCCATCGGACTGTGTGTTCTCCTCTTGTCCTTGGTCAGTTCCCTCTCCCATCCCTCACAGGGACTGGTCTTGACACTCTCTGGGTTTTACTGAATGTTACATGTTTATGTTGAAGAGATTGCTGATGTTAGACGTTAGGATTTATTTGGCAGTGCAAGAGTTTGTGTTTCTCTTTCTTTGAGGATCTCTATATTGTTATTAATGGTGGTGTTGAGGAAACCACGGAGCTCCTGAAGCAGCGATTTGACCACATTTTCTATACGGGAAACACTGCGGTTGGCAAAATTGTCATGGAAGCTGCTGCCAAGCATCTGACCCCTGTGACTCTTGAACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTGACCTGGACATTGTTTGCAGGTGAGTCTGGCTCTCTGATTTTCTGAGGTTTTCCCAGCACAATGGAGACTTTTCCTGACAATGTTACTCTTTGTACTTGAACCCCATACCTTATGGCTCCAAGATACATTATTAAGCTTTGGTGGTTGATGTCCTCAAGAGTAACAGGAGTCTTTCACTGTCTCTTGGCGCCACTGTCAAAAATGGTGAGCTGTAAGTCCTGACATCATGTGGTTGTCCTTAGGAATTTTAAAAAAGTTATATCTGTTCTCAAGATTACAGCTAGATCTAGCAAGAAATTTTAACGTTCTTCTGGCCAGTGATCTGTGAAGTACATAATCCAAAGTATTGTGTGTGCCTAATAAAATCTTTAAATGCCCATTTGAGAGGGTATTATGCTGATATCTTAACTGAGATCCTTTGTGGGCAAAACAAGTGTTCCTCATTTTTTAACTGTGAATAACATCTTGCATCTGAAAATTAGAAAATAAGAGGTTTCAGGTTCTCTCTGCTAAATCCGGTTTAGCTACTAAGAAGTGCCAAATCATAGAACTGACTCTGTGCTCTGGGTGGTGTGGCTTTCTCTGCCCTTCAGAGATTCCAGGTCAGGGTTCCAGGTTGGCTTCCTAAGTAGAAATCCATTTGTCAAAACCAGACACCCTCAGTTAGTGAATGTTTAGGGCATGGGTTTCTGCCCATGCATAGGAAAGGTCTTCCCAAGTGGGGCAGGGCTCCACAAAGAGGAGGATGGCCTTGGAGGCTGGCTGACATCCTGCTTTATACCTGAACATCTTGCAGGCAGAGCCAAAAGCCACAACCAGGAGAGTCTGTACCGAACTCTGGTCATCCAGGACTTTCCTTTGGCTGGACTGGAAGAGGGGAAAGGACATTGGGAGGCTGTTTCTCCTCTTTTCCTGCAGCAGGCAATGGCTTCACTGTTTACCAAGTACTGTTTGCCGTGAGCTGGCCTGAGAACTTCCCTGCTATGTAAAATATTCCACCTCATTTGGAAAATACTTTCTAAGTTCCAAACAACTGATTTAGAAATGAGTTTTTAACTTTTTTATAAAAATTGCCAGATAAATATATGAATCTATTTTAGTTGCAAGACATTCAAACAACACAATGTAACAAATGAATATTTGACTGAATTACTGAATTATATAGCTGTTCTGGATGTTTTCCCCTCAGACGCATAACCTGGGGAAAATACATGAATTGTGGCCAAACCTGCATTGCACCCGACTATATTCTCTGTGAAGCATCCCTCCAAAATCAAATTGTATGGAAGATTAAGGAAACAGTGAAGGTTTGTATTAAAAACATCTGATTCCACTGATTTTAATAAGATAAGGAGTCAAATTAACTATTCGCAGGCAGCATCCCCATTTGTTTCTCCCTTCAGGAAAATTTCAAAATCATATGTGACTCAGTGAACTTATTGACTAATATGAAAATGCTATGTGTACCATAGAATATATGCTGGGAGCAAGGTTGCATTGGTGTTAAATCTACTTAAACTGTCTAGTTGATTTGTTGATGATTAGTTGTGGCATATACTTTTTTTAAAAAAGTTAAATAATCGTGTGTCCGTGGTTTTGAGGGAATGTTGCCAACCCTTTAGGTATAATCAGAGAGACTCTTTGGCATATTGGCCATTGCTGCTGAAGGTTATCAGTTTTTGTGTATGTAGAGGGCCTAGGGTGGCCAGTAGTTTGGAGGAGTGACTTAATTAAATAACTACTTACAGTATACCCTTTATATAATTAACAATCTTTCAGCGTGTTTAAAGTAAATATTTGCAGTGAGGGAACCAAGGAAGACTGCATGTAGAGTCCTAAGCCAAGACTTGAAGAAATATAGGATTTAAGTTGGTAGAAAGGAATGGGGGCTGGGCACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGGGGCCTAGGGGGGCAGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAA
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GGCCCGGCGAGAATTCGAGTGTGGCGCTGGTGGGCTGGCATTGCTGGGGGACCCGGGGCACCCTCCTCAGCAGCTGGCCCAGGTGCTAAGCCCCTCATTGCCCAGGGCTGGCGGCGCCGGCCAGCTGCTCCGAGTGTGGGGCCCATTGAGCCTGCGCCCACCCAGAACTCGCTCTGGCTTGTGAGCGCCACGCGCAGCCCCGGTTCCTGCCTGCGCCTCTCCCTCCACACCTTCCCACAAGCAGAAGGAGCCGGCTCCAGCCTTGGCCAGCCCAGAGAGGGGCTCCCACAGTGCAGCTGTGGGCTGAAGGGCTCCTCAAGCGTGGCGAGAGTGGGTGCCAAGGCCAAGGAGGTGCTGAGAGCGAGCAAGGGTTGCCCGCACGCTCTCACCTCTCACCCAGCCTATAAGAGTACTTCTGCTTTCAAAAAAGACATGTCTGTGGCATGAAAACATGCCACACATACACAAAAAGTGCCCTCCTGAACTAGAGGGCAGATCCTCACACTGACTTAACATGCTGGCATTTAAGAATATCAAGAACTGAATAAAGAAAATGATCTGCCCAACTGCGGGTAGTTCATCTGTCTGAGTCAGAGGTTCTTATGCCTTCCTGGGGAGGAAGTTATGATGCCGCGAAGAAATTGGCACTGCTGAGTTCTACATGCAGTTGCTACAGGGAGGAGTCTTCATTTAGCTTTAAGCGAAATACAGCTTAAAAATATCTTACCTGTATTCTGTACATCAACTTGTGATGGATTGAGGCCAGTTCTGGTTCTTGGAATGATATTTTTCTCTTTGTTAGAGCCATTTTGTTCTAATAGCTGTGATGATCCAATCAAGAAAGATGAAATGGAAGACAGTGAGATGTCAAGGATTGAATAGGACGTAGAACCAGAAGATAGAGGTTGAAGGTACCGCTTTGCCCCTGACCAGGGGTAAATTCTTCAATAACTGACTCTGTCCGGATAAGGAGGATAATAATGCTCTACCAGCTTCAGTTACCGTGTTAGGGGATCAATAATATATGCTATGTAGATTAAGCCATAGAAAAGTTAAAGCTTGAAACATTTGTTGGGCAGCTGAACCATGAAGTGAATGAAATTAATTCGCCTTCAAGTGGAAACATGAGATCCACAAGCCAGCTTTTACTTCACACTTCCACCTTGGAGTCTTGAATACCTCTCTGTCTTCCTTGCTTGCCATCTGTTCTCTTACTTTTGATGCTGTTATTGTCCAAGATGTTCTCTCTTAGAATAGCTGGTAATGATAGCACAATGCATAGATGGGCTCAGTCCACAGAAGCTACGTGAATTCTCCCAGTAACAGATGAGGAAATTGAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGTGTTGTGAGACAGAGAACATTCAGACTAAGACATGCATGACCTGTCCTGTGGGAGCCACTCTTCACCAGAGGCACTTCTGCACACACCCGCGTCTCATGCATTTTCCCTGGTCAAATTCAACCATTTGTTCTCCTTAGTGTCTTTGTTGCTGAGCTCATGTAAAAAAACACTGGAGTCTCCAGATTAGTTCTATGTGGGTTCATGCTTCCCAGATGCCATCGGACTGTGTGTTCTCCTCTTGTCCTTGGTCAGTTCCCTCTCCCATCCCTCACAGGGACTGGTCTTGACACTCTCTGGGTTTTACTGAATGTTACATGTTTATGTTGAAGAGATTGCTGATGTTAGACGTTAGGATTTATTTGGCAGTGCAAGAGTTTGTGTTTCTCTTTCTTTGAGGATCTCTATATTGTTATTAATGGTGGTGTTGAGGAAACCACGGAGCTCCTGAAGCAGCGATTTGACCACATTTTCTATACGGGAAACACTGCGGTTGGCAAAATTGTCATGGAAGCTGCTGCCAAGCATCTGACCCCTGTGACTCTTGAACTGGGAGGGGAAAGTCCATGTTATATTGATAAAGATTGTGACCTGGACATTGTTTGCAGGTGAGTCTGGCTCTCTGATTTTCTGAGGTTTTCCCAGCACAATGGAGACTTTTCCTGACAATGTTACTCTTTGTACTTGAACCCCATACCTTATGGCTCCAAGATACATTATTAAGCTTTGGTGGTTGATGTCCTCAAGAGTAACAGGAGTCTTTCACTGTCTCTTGGCGCCACTGTCAAAAATGGTGAGCTGTAAGTCCTGACATCATGTGGTTGTCCTTAGGAATTTTAAAAAAGTTATATCTGTTCTCAAGATTACAGCTAGATCTAGCAAGAAATTTTAACGTTCTTCTGGCCAGTGATCTGTGAAGTACATAATCCAAAGTATTGTGTGTGCCTAATAAAATCTTTAAATGCCCATTTGAGAGGGTATTATGCTGATATCTTAACTGAGATCCTTTGTGGGCAAAACAAGTGTTCCTCATTTTTTAACTGTGAATAACATCTTGCATCTGAAAATTAGAAAATAAGAGGTTTCAGGTTCTCTCTGCTAAATCCGGTTTAGCTACTAAGAAGTGCCAAATCATAGAACTGACTCTGTGCTCTGGGTGGTGTGGCTTTCTCTGCCCTTCAGAGATTCCAGGTCAGGGTTCCAGGTTGGCTTCCTAAGTAGAAATCCATTTGTCAAAACCAGACACCCTCAGTTAGTGAATGTTTAGGGCATGGGTTTCTGCCCATGCATAGGAAAGGTCTTCCCAAGTGGGGCAGGGCTCCACAAAGAGGAGGATGGCCTTGGAGGCTGGCTGACATCCTGCTTTATACCTGAACATCTTGCAGGCAGAGCCAAAAGCCACAACCAGGAGAGTCTGTACCGAACTCTGGTCATCCAGGACTTTCCTTTGGCTGGACTGGAAGAGGGGAAAGGACATTGGGAGGCTGTTTCTCCTCTTTTCCTGCAGCAGGCAATGGCTTCACTGTTTACCAAGTACTGTTTGCCGTGAGCTGGCCTGAGAACTTCCCTGCTATGTAAAATATTCCACCTCATTTGGAAAATACTTTCTAAGTTCCAAACAACTGATTTAGAAATGAGTTTTTAACTTTTTTATAAAAATTGCCAGATAAATATATGAATCTATTTTAGTTGCAAGACATTCAAACAACACAATGTAACAAATGAATATTTGACTGAATTACTGAATTATATAGCTGTTCTGGATGTTTTCCCCTCAGACGCATAACCTGGGGAAAATACATGAATTGTGGCCAAACCTGCATTGCACCCGACTATATTCTCTGTGAAGCATCCCTCCAAAATCAAATTGTATGGAAGATTAAGGAAACAGTGAAGGTTTGTATTAAAAACATCTGATTCCACTGATTTTAATAAGATAAGGAGTCAAATTAACTATTCGCAGGCAGCATCCCCATTTGTTTCTCCCTTCAGGAAAATTTCAAAATCATATGTGACTCAGTGAACTTATTGACTAATATGAAAATGCTATGTGTACCATAGAATATATGCTGGGAGCAAGGTTGCATTGGTGTTAAATCTACTTAAACTGTCTAGTTGATTTGTTGATGATTAGTTGTGGCATATACTTTTTTTAAAAAAGTTAAATAATCGTGTGTCCGTGGTTTTGAGGGAATGTTGCCAACCCTTTAGGTATAATCAGAGAGACTCTTTGGCATATTGGCCATTGCTGCTGAAGGTTATCAGTTTTTGTGTATGTAGAGGGCCTAGGGTGGCCAGTAGTTTGGAGGAGTGACTTAATTAAATAACTACTTACAGTATACCCTTTATATAATTAACAATCTTTCAGCGTGTTTAAAGTAAATATTTGCAGTGAGGGAACCAAGGAAGACTGCATGTAGAGTCCTAAGCCAAGACTTGAAGAAATATAGGATTTAAGTTGGTAGAAAGGAATGGGGGCTGGGCACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGGGGCCTAGGGGGGCAGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAA
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Task1_train_23876
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The gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Sjögren-Larsson syndrome
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GAATTCGAGTGTGGCGCTGGTGGGCTGGCATTGCTGGGGGACCCGGGGCACCCTCCTCAGCAGCTGGCCCAGGTGCTAAGCCCCTCATTGCCCAGGGCTGGCGGCGCCGGCCAGCTGCTCCGAGTGTGGGGCCCATTGAGCCTGCGCCCACCCAGAACTCGCTCTGGCTTGTGAGCGCCACGCGCAGCCCCGGTTCCTGCCTGCGCCTCTCCCTCCACACCTTCCCACAAGCAGAAGGAGCCGGCTCCAGCCTTGGCCAGCCCAGAGAGGGGCTCCCACAGTGCAGCTGTGGGCTGAAGGGCTCCTCAAGCGTGGCGAGAGTGGGTGCCAAGGCCAAGGAGGTGCTGAGAGCGAGCAAGGGTTGCCCGCACGCTCTCACCTCTCACCCAGCCTATAAGAGTACTTCTGCTTTCAAAAAAGACATGTCTGTGGCATGAAAACATGCCACACATACACAAAAAGTGCCCTCCTGAACTAGAGGGCAGATCCTCACACTGACTTAACATGCTGGCATTTAAGAATATCAAGAACTGAATAAAGAAAATGATCTGCCCAACTGCGGGTAGTTCATCTGTCTGAGTCAGAGGTTCTTATGCCTTCCTGGGGAGGAAGTTATGATGCCGCGAAGAAATTGGCACTGCTGAGTTCTACATGCAGTTGCTACAGGGAGGAGTCTTCATTTAGCTTTAAGCGAAATACAGCTTAAAAATATCTTACCTGTATTCTGTACATCAACTTGTGATGGATTGAGGCCAGTTCTGGTTCTTGGAATGATATTTTTCTCTTTGTTAGAGCCATTTTGTTCTAATAGCTGTGATGATCCAATCAAGAAAGATGAAATGGAAGACAGTGAGATGTCAAGGATTGAATAGGACGTAGAACCAGAAGATAGAGGTTGAAGGTACCGCTTTGCCCCTGACCAGGGGTAAATTCTTCAATAACTGACTCTGTCCGGATAAGGAGGATAATAATGCTCTACCAGCTTCAGTTACCGTGTTAGGGGATCAATAATATATGCTATGTAGATTAAGCCATAGAAAAGTTAAAGCTTGAAACATTTGTTGGGCAGCTGAACCATGAAGTGAATGAAATTAATTCGCCTTCAAGTGGAAACATGAGATCCACAAGCCAGCTTTTACTTCACACTTCCACCTTGGAGTCTTGAATACCTCTCTGTCTTCCTTGCTTGCCATCTGTTCTCTTACTTTTGATGCTGTTATTGTCCAAGATGTTCTCTCTTAGAATAGCTGGTAATGATAGCACAATGCATAGATGGGCTCAGTCCACAGAAGCTACGTGAATTCTCCCAGTAACAGATGAGGAAATTGAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGTGTTGTGAGACAGAGAACATTCAGACTAAGACATGCATGACCTGTCCTGTGGGAGCCACTCTTCACCAGAGGCACTTCTGCACACACCCGCGTCTCATGCATTTTCCCTGGTCAAATTCAACCATTTGTTCTCCTTAGTGTCTTTGTTGCTGAGCTCATGTAAAAAAACACTGGAGTCTCCAGATTAGTTCTATGTGGGTTCATGCTTCCCAGATGCCATCGGACTGTGTGTTCTCCTCTTGTCCTTGGTCAGTTCCCTCTCCCATCCCTCACAGGGACTGGTCTTGACACTCTCTGGGTTTTACTGAATGTTACATGTTTATGTTGAAGAGATTGCTGATGTTAGACGTTAGGATTTATTTGGCAGTGCAAGAGTTTGTGTTTCTCTTTCTTTGAGGATCTCTATATTGTTATTAATGGTGGTGTTGAGGAAACCACGGAGCTCCTGAAGCAGCGATTTGACCACATTTTCTATACGGGAAACACTGCGGTTGGCAAAATTGTCATGGAAGCTGCTGCCAAGCATCTGACCCCTGTGACTCTTGAACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTGACCTGGACATTGTTTGCAGGTGAGTCTGGCTCTCTGATTTTCTGAGGTTTTCCCAGCACAATGGAGACTTTTCCTGACAATGTTACTCTTTGTACTTGAACCCCATACCTTATGGCTCCAAGATACATTATTAAGCTTTGGTGGTTGATGTCCTCAAGAGTAACAGGAGTCTTTCACTGTCTCTTGGCGCCACTGTCAAAAATGGTGAGCTGTAAGTCCTGACATCATGTGGTTGTCCTTAGGAATTTTAAAAAAGTTATATCTGTTCTCAAGATTACAGCTAGATCTAGCAAGAAATTTTAACGTTCTTCTGGCCAGTGATCTGTGAAGTACATAATCCAAAGTATTGTGTGTGCCTAATAAAATCTTTAAATGCCCATTTGAGAGGGTATTATGCTGATATCTTAACTGAGATCCTTTGTGGGCAAAACAAGTGTTCCTCATTTTTTAACTGTGAATAACATCTTGCATCTGAAAATTAGAAAATAAGAGGTTTCAGGTTCTCTCTGCTAAATCCGGTTTAGCTACTAAGAAGTGCCAAATCATAGAACTGACTCTGTGCTCTGGGTGGTGTGGCTTTCTCTGCCCTTCAGAGATTCCAGGTCAGGGTTCCAGGTTGGCTTCCTAAGTAGAAATCCATTTGTCAAAACCAGACACCCTCAGTTAGTGAATGTTTAGGGCATGGGTTTCTGCCCATGCATAGGAAAGGTCTTCCCAAGTGGGGCAGGGCTCCACAAAGAGGAGGATGGCCTTGGAGGCTGGCTGACATCCTGCTTTATACCTGAACATCTTGCAGGCAGAGCCAAAAGCCACAACCAGGAGAGTCTGTACCGAACTCTGGTCATCCAGGACTTTCCTTTGGCTGGACTGGAAGAGGGGAAAGGACATTGGGAGGCTGTTTCTCCTCTTTTCCTGCAGCAGGCAATGGCTTCACTGTTTACCAAGTACTGTTTGCCGTGAGCTGGCCTGAGAACTTCCCTGCTATGTAAAATATTCCACCTCATTTGGAAAATACTTTCTAAGTTCCAAACAACTGATTTAGAAATGAGTTTTTAACTTTTTTATAAAAATTGCCAGATAAATATATGAATCTATTTTAGTTGCAAGACATTCAAACAACACAATGTAACAAATGAATATTTGACTGAATTACTGAATTATATAGCTGTTCTGGATGTTTTCCCCTCAGACGCATAACCTGGGGAAAATACATGAATTGTGGCCAAACCTGCATTGCACCCGACTATATTCTCTGTGAAGCATCCCTCCAAAATCAAATTGTATGGAAGATTAAGGAAACAGTGAAGGTTTGTATTAAAAACATCTGATTCCACTGATTTTAATAAGATAAGGAGTCAAATTAACTATTCGCAGGCAGCATCCCCATTTGTTTCTCCCTTCAGGAAAATTTCAAAATCATATGTGACTCAGTGAACTTATTGACTAATATGAAAATGCTATGTGTACCATAGAATATATGCTGGGAGCAAGGTTGCATTGGTGTTAAATCTACTTAAACTGTCTAGTTGATTTGTTGATGATTAGTTGTGGCATATACTTTTTTTAAAAAAGTTAAATAATCGTGTGTCCGTGGTTTTGAGGGAATGTTGCCAACCCTTTAGGTATAATCAGAGAGACTCTTTGGCATATTGGCCATTGCTGCTGAAGGTTATCAGTTTTTGTGTATGTAGAGGGCCTAGGGTGGCCAGTAGTTTGGAGGAGTGACTTAATTAAATAACTACTTACAGTATACCCTTTATATAATTAACAATCTTTCAGCGTGTTTAAAGTAAATATTTGCAGTGAGGGAACCAAGGAAGACTGCATGTAGAGTCCTAAGCCAAGACTTGAAGAAATATAGGATTTAAGTTGGTAGAAAGGAATGGGGGCTGGGCACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGGGGCCTAGGGGGGCAGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATCAGC
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GAATTCGAGTGTGGCGCTGGTGGGCTGGCATTGCTGGGGGACCCGGGGCACCCTCCTCAGCAGCTGGCCCAGGTGCTAAGCCCCTCATTGCCCAGGGCTGGCGGCGCCGGCCAGCTGCTCCGAGTGTGGGGCCCATTGAGCCTGCGCCCACCCAGAACTCGCTCTGGCTTGTGAGCGCCACGCGCAGCCCCGGTTCCTGCCTGCGCCTCTCCCTCCACACCTTCCCACAAGCAGAAGGAGCCGGCTCCAGCCTTGGCCAGCCCAGAGAGGGGCTCCCACAGTGCAGCTGTGGGCTGAAGGGCTCCTCAAGCGTGGCGAGAGTGGGTGCCAAGGCCAAGGAGGTGCTGAGAGCGAGCAAGGGTTGCCCGCACGCTCTCACCTCTCACCCAGCCTATAAGAGTACTTCTGCTTTCAAAAAAGACATGTCTGTGGCATGAAAACATGCCACACATACACAAAAAGTGCCCTCCTGAACTAGAGGGCAGATCCTCACACTGACTTAACATGCTGGCATTTAAGAATATCAAGAACTGAATAAAGAAAATGATCTGCCCAACTGCGGGTAGTTCATCTGTCTGAGTCAGAGGTTCTTATGCCTTCCTGGGGAGGAAGTTATGATGCCGCGAAGAAATTGGCACTGCTGAGTTCTACATGCAGTTGCTACAGGGAGGAGTCTTCATTTAGCTTTAAGCGAAATACAGCTTAAAAATATCTTACCTGTATTCTGTACATCAACTTGTGATGGATTGAGGCCAGTTCTGGTTCTTGGAATGATATTTTTCTCTTTGTTAGAGCCATTTTGTTCTAATAGCTGTGATGATCCAATCAAGAAAGATGAAATGGAAGACAGTGAGATGTCAAGGATTGAATAGGACGTAGAACCAGAAGATAGAGGTTGAAGGTACCGCTTTGCCCCTGACCAGGGGTAAATTCTTCAATAACTGACTCTGTCCGGATAAGGAGGATAATAATGCTCTACCAGCTTCAGTTACCGTGTTAGGGGATCAATAATATATGCTATGTAGATTAAGCCATAGAAAAGTTAAAGCTTGAAACATTTGTTGGGCAGCTGAACCATGAAGTGAATGAAATTAATTCGCCTTCAAGTGGAAACATGAGATCCACAAGCCAGCTTTTACTTCACACTTCCACCTTGGAGTCTTGAATACCTCTCTGTCTTCCTTGCTTGCCATCTGTTCTCTTACTTTTGATGCTGTTATTGTCCAAGATGTTCTCTCTTAGAATAGCTGGTAATGATAGCACAATGCATAGATGGGCTCAGTCCACAGAAGCTACGTGAATTCTCCCAGTAACAGATGAGGAAATTGAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGTGTTGTGAGACAGAGAACATTCAGACTAAGACATGCATGACCTGTCCTGTGGGAGCCACTCTTCACCAGAGGCACTTCTGCACACACCCGCGTCTCATGCATTTTCCCTGGTCAAATTCAACCATTTGTTCTCCTTAGTGTCTTTGTTGCTGAGCTCATGTAAAAAAACACTGGAGTCTCCAGATTAGTTCTATGTGGGTTCATGCTTCCCAGATGCCATCGGACTGTGTGTTCTCCTCTTGTCCTTGGTCAGTTCCCTCTCCCATCCCTCACAGGGACTGGTCTTGACACTCTCTGGGTTTTACTGAATGTTACATGTTTATGTTGAAGAGATTGCTGATGTTAGACGTTAGGATTTATTTGGCAGTGCAAGAGTTTGTGTTTCTCTTTCTTTGAGGATCTCTATATTGTTATTAATGGTGGTGTTGAGGAAACCACGGAGCTCCTGAAGCAGCGATTTGACCACATTTTCTATACGGGAAACACTGCGGTTGGCAAAATTGTCATGGAAGCTGCTGCCAAGCATCTGACCCCTGTGACTCTTGAACTGGGAGGGAAAAGTCCATATTATATTGATAAAGATTGTGACCTGGACATTGTTTGCAGGTGAGTCTGGCTCTCTGATTTTCTGAGGTTTTCCCAGCACAATGGAGACTTTTCCTGACAATGTTACTCTTTGTACTTGAACCCCATACCTTATGGCTCCAAGATACATTATTAAGCTTTGGTGGTTGATGTCCTCAAGAGTAACAGGAGTCTTTCACTGTCTCTTGGCGCCACTGTCAAAAATGGTGAGCTGTAAGTCCTGACATCATGTGGTTGTCCTTAGGAATTTTAAAAAAGTTATATCTGTTCTCAAGATTACAGCTAGATCTAGCAAGAAATTTTAACGTTCTTCTGGCCAGTGATCTGTGAAGTACATAATCCAAAGTATTGTGTGTGCCTAATAAAATCTTTAAATGCCCATTTGAGAGGGTATTATGCTGATATCTTAACTGAGATCCTTTGTGGGCAAAACAAGTGTTCCTCATTTTTTAACTGTGAATAACATCTTGCATCTGAAAATTAGAAAATAAGAGGTTTCAGGTTCTCTCTGCTAAATCCGGTTTAGCTACTAAGAAGTGCCAAATCATAGAACTGACTCTGTGCTCTGGGTGGTGTGGCTTTCTCTGCCCTTCAGAGATTCCAGGTCAGGGTTCCAGGTTGGCTTCCTAAGTAGAAATCCATTTGTCAAAACCAGACACCCTCAGTTAGTGAATGTTTAGGGCATGGGTTTCTGCCCATGCATAGGAAAGGTCTTCCCAAGTGGGGCAGGGCTCCACAAAGAGGAGGATGGCCTTGGAGGCTGGCTGACATCCTGCTTTATACCTGAACATCTTGCAGGCAGAGCCAAAAGCCACAACCAGGAGAGTCTGTACCGAACTCTGGTCATCCAGGACTTTCCTTTGGCTGGACTGGAAGAGGGGAAAGGACATTGGGAGGCTGTTTCTCCTCTTTTCCTGCAGCAGGCAATGGCTTCACTGTTTACCAAGTACTGTTTGCCGTGAGCTGGCCTGAGAACTTCCCTGCTATGTAAAATATTCCACCTCATTTGGAAAATACTTTCTAAGTTCCAAACAACTGATTTAGAAATGAGTTTTTAACTTTTTTATAAAAATTGCCAGATAAATATATGAATCTATTTTAGTTGCAAGACATTCAAACAACACAATGTAACAAATGAATATTTGACTGAATTACTGAATTATATAGCTGTTCTGGATGTTTTCCCCTCAGACGCATAACCTGGGGAAAATACATGAATTGTGGCCAAACCTGCATTGCACCCGACTATATTCTCTGTGAAGCATCCCTCCAAAATCAAATTGTATGGAAGATTAAGGAAACAGTGAAGGTTTGTATTAAAAACATCTGATTCCACTGATTTTAATAAGATAAGGAGTCAAATTAACTATTCGCAGGCAGCATCCCCATTTGTTTCTCCCTTCAGGAAAATTTCAAAATCATATGTGACTCAGTGAACTTATTGACTAATATGAAAATGCTATGTGTACCATAGAATATATGCTGGGAGCAAGGTTGCATTGGTGTTAAATCTACTTAAACTGTCTAGTTGATTTGTTGATGATTAGTTGTGGCATATACTTTTTTTAAAAAAGTTAAATAATCGTGTGTCCGTGGTTTTGAGGGAATGTTGCCAACCCTTTAGGTATAATCAGAGAGACTCTTTGGCATATTGGCCATTGCTGCTGAAGGTTATCAGTTTTTGTGTATGTAGAGGGCCTAGGGTGGCCAGTAGTTTGGAGGAGTGACTTAATTAAATAACTACTTACAGTATACCCTTTATATAATTAACAATCTTTCAGCGTGTTTAAAGTAAATATTTGCAGTGAGGGAACCAAGGAAGACTGCATGTAGAGTCCTAAGCCAAGACTTGAAGAAATATAGGATTTAAGTTGGTAGAAAGGAATGGGGGCTGGGCACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGGGGCCTAGGGGGGCAGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATCAGC
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Task1_train_23877
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Here is a genetic alteration in ALDH3A2 (aldehyde dehydrogenase 3 family member A2) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Sjögren-Larsson syndrome
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GCTGTTATTGTCCAAGATGTTCTCTCTTAGAATAGCTGGTAATGATAGCACAATGCATAGATGGGCTCAGTCCACAGAAGCTACGTGAATTCTCCCAGTAACAGATGAGGAAATTGAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGTGTTGTGAGACAGAGAACATTCAGACTAAGACATGCATGACCTGTCCTGTGGGAGCCACTCTTCACCAGAGGCACTTCTGCACACACCCGCGTCTCATGCATTTTCCCTGGTCAAATTCAACCATTTGTTCTCCTTAGTGTCTTTGTTGCTGAGCTCATGTAAAAAAACACTGGAGTCTCCAGATTAGTTCTATGTGGGTTCATGCTTCCCAGATGCCATCGGACTGTGTGTTCTCCTCTTGTCCTTGGTCAGTTCCCTCTCCCATCCCTCACAGGGACTGGTCTTGACACTCTCTGGGTTTTACTGAATGTTACATGTTTATGTTGAAGAGATTGCTGATGTTAGACGTTAGGATTTATTTGGCAGTGCAAGAGTTTGTGTTTCTCTTTCTTTGAGGATCTCTATATTGTTATTAATGGTGGTGTTGAGGAAACCACGGAGCTCCTGAAGCAGCGATTTGACCACATTTTCTATACGGGAAACACTGCGGTTGGCAAAATTGTCATGGAAGCTGCTGCCAAGCATCTGACCCCTGTGACTCTTGAACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTGACCTGGACATTGTTTGCAGGTGAGTCTGGCTCTCTGATTTTCTGAGGTTTTCCCAGCACAATGGAGACTTTTCCTGACAATGTTACTCTTTGTACTTGAACCCCATACCTTATGGCTCCAAGATACATTATTAAGCTTTGGTGGTTGATGTCCTCAAGAGTAACAGGAGTCTTTCACTGTCTCTTGGCGCCACTGTCAAAAATGGTGAGCTGTAAGTCCTGACATCATGTGGTTGTCCTTAGGAATTTTAAAAAAGTTATATCTGTTCTCAAGATTACAGCTAGATCTAGCAAGAAATTTTAACGTTCTTCTGGCCAGTGATCTGTGAAGTACATAATCCAAAGTATTGTGTGTGCCTAATAAAATCTTTAAATGCCCATTTGAGAGGGTATTATGCTGATATCTTAACTGAGATCCTTTGTGGGCAAAACAAGTGTTCCTCATTTTTTAACTGTGAATAACATCTTGCATCTGAAAATTAGAAAATAAGAGGTTTCAGGTTCTCTCTGCTAAATCCGGTTTAGCTACTAAGAAGTGCCAAATCATAGAACTGACTCTGTGCTCTGGGTGGTGTGGCTTTCTCTGCCCTTCAGAGATTCCAGGTCAGGGTTCCAGGTTGGCTTCCTAAGTAGAAATCCATTTGTCAAAACCAGACACCCTCAGTTAGTGAATGTTTAGGGCATGGGTTTCTGCCCATGCATAGGAAAGGTCTTCCCAAGTGGGGCAGGGCTCCACAAAGAGGAGGATGGCCTTGGAGGCTGGCTGACATCCTGCTTTATACCTGAACATCTTGCAGGCAGAGCCAAAAGCCACAACCAGGAGAGTCTGTACCGAACTCTGGTCATCCAGGACTTTCCTTTGGCTGGACTGGAAGAGGGGAAAGGACATTGGGAGGCTGTTTCTCCTCTTTTCCTGCAGCAGGCAATGGCTTCACTGTTTACCAAGTACTGTTTGCCGTGAGCTGGCCTGAGAACTTCCCTGCTATGTAAAATATTCCACCTCATTTGGAAAATACTTTCTAAGTTCCAAACAACTGATTTAGAAATGAGTTTTTAACTTTTTTATAAAAATTGCCAGATAAATATATGAATCTATTTTAGTTGCAAGACATTCAAACAACACAATGTAACAAATGAATATTTGACTGAATTACTGAATTATATAGCTGTTCTGGATGTTTTCCCCTCAGACGCATAACCTGGGGAAAATACATGAATTGTGGCCAAACCTGCATTGCACCCGACTATATTCTCTGTGAAGCATCCCTCCAAAATCAAATTGTATGGAAGATTAAGGAAACAGTGAAGGTTTGTATTAAAAACATCTGATTCCACTGATTTTAATAAGATAAGGAGTCAAATTAACTATTCGCAGGCAGCATCCCCATTTGTTTCTCCCTTCAGGAAAATTTCAAAATCATATGTGACTCAGTGAACTTATTGACTAATATGAAAATGCTATGTGTACCATAGAATATATGCTGGGAGCAAGGTTGCATTGGTGTTAAATCTACTTAAACTGTCTAGTTGATTTGTTGATGATTAGTTGTGGCATATACTTTTTTTAAAAAAGTTAAATAATCGTGTGTCCGTGGTTTTGAGGGAATGTTGCCAACCCTTTAGGTATAATCAGAGAGACTCTTTGGCATATTGGCCATTGCTGCTGAAGGTTATCAGTTTTTGTGTATGTAGAGGGCCTAGGGTGGCCAGTAGTTTGGAGGAGTGACTTAATTAAATAACTACTTACAGTATACCCTTTATATAATTAACAATCTTTCAGCGTGTTTAAAGTAAATATTTGCAGTGAGGGAACCAAGGAAGACTGCATGTAGAGTCCTAAGCCAAGACTTGAAGAAATATAGGATTTAAGTTGGTAGAAAGGAATGGGGGCTGGGCACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGGGGCCTAGGGGGGCAGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATCAGCCGGGGATGGTGGTGCATGTCTGTAATTCCAGCTACTCAGGAGGCTAAGGCACGAGATTTGCTTGAACCCTGGCAAGAATCGCTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTTTAAAAAAAAAAAAAAAAAGAAGAATGGGATGACCAAATGACCAGTGTGACTGAGTTCAGCAGTGGGTGAGGATCATTAACCCCTCAGATGAAAGAAATTATTGGAGCAGTCACTGTTTACTCGACAGATGTTAATTGAGCACTAAAAGGAAGGATCAAAAACACCAAAGAGTAATGCATGTGATCTGAAAATGAAAATTGTTGGCCAGACATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTTGATCACTTGAGGTGAGGAGTTAGAGACCAGTTTGGCCAACATGGCAAAACCCATCTCTACTAAAATTACAAAAATTAGCCGGGCATGGTGGCACGCACCTATAATTCTAGCTACTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCATGCTACTGCACTCCAGCCTGGGTAACGGAATGAGATTTTATCTCAAAAGAAAAAAAGATATGAAAATTGTCGCCGTTGTGGTGGTTCACTCCTGTAATCCGAGCACTTTGGGAGGCTAAGGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGGTCAACATAATGAGACCCTGTGTCTACAAAAGAAAAAAAGGTTAGCTGGGTATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCCAGAAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCCATTATTGCATCACTGTGCTCCAGCCTGAGTGACAGCATAAGACTCTGTCTCAAAAAAACAAAAAAAGAGAAAATTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGACAGATCACTTGAGGCCAGGAATTCAAGACCAGCTGGGCAACGTAGCAAAATCTTGTCGCTACAAGAAATACAAAAATTCAGGTGTACCGGCGTGTACGTGTGGTCCCAGCTACTTGGCAGGCTGAGGTAGGAGGATCGCTTGATCCTCCTGGGAGGCGGAGGCTGCAGTGAGCCAA
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GCTGTTATTGTCCAAGATGTTCTCTCTTAGAATAGCTGGTAATGATAGCACAATGCATAGATGGGCTCAGTCCACAGAAGCTACGTGAATTCTCCCAGTAACAGATGAGGAAATTGAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGTGTTGTGAGACAGAGAACATTCAGACTAAGACATGCATGACCTGTCCTGTGGGAGCCACTCTTCACCAGAGGCACTTCTGCACACACCCGCGTCTCATGCATTTTCCCTGGTCAAATTCAACCATTTGTTCTCCTTAGTGTCTTTGTTGCTGAGCTCATGTAAAAAAACACTGGAGTCTCCAGATTAGTTCTATGTGGGTTCATGCTTCCCAGATGCCATCGGACTGTGTGTTCTCCTCTTGTCCTTGGTCAGTTCCCTCTCCCATCCCTCACAGGGACTGGTCTTGACACTCTCTGGGTTTTACTGAATGTTACATGTTTATGTTGAAGAGATTGCTGATGTTAGACGTTAGGATTTATTTGGCAGTGCAAGAGTTTGTGTTTCTCTTTCTTTGAGGATCTCTATATTGTTATTAATGGTGGTGTTGAGGAAACCACGGAGCTCCTGAAGCAGCGATTTGACCACATTTTCTATACGGGAAACACTGCGGTTGGCAAAATTGTCATGGAAGCTGCTGCCAAGCATCTGACCCCTGTGACTCTTGAACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTGACCTGGACATTGTTTGCAGGTGAGTCTGGCTCTCTGATTTTCTGAGGTTTTCCCAGCACAATGGAGACTTTTCCTGACAATGTTACTCTTTGTACTTGAACCCCATACCTTATGGCTCCAAGATACATTATTAAGCTTTGGTGGTTGATGTCCTCAAGAGTAACAGGAGTCTTTCACTGTCTCTTGGCGCCACTGTCAAAAATGGTGAGCTGTAAGTCCTGACATCATGTGGTTGTCCTTAGGAATTTTAAAAAAGTTATATCTGTTCTCAAGATTACAGCTAGATCTAGCAAGAAATTTTAACGTTCTTCTGGCCAGTGATCTGTGAAGTACATAATCCAAAGTATTGTGTGTGCCTAATAAAATCTTTAAATGCCCATTTGAGAGGGTATTATGCTGATATCTTAACTGAGATCCTTTGTGGGCAAAACAAGTGTTCCTCATTTTTTAACTGTGAATAACATCTTGCATCTGAAAATTAGAAAATAAGAGGTTTCAGGTTCTCTCTGCTAAATCCGGTTTAGCTACTAAGAAGTGCCAAATCATAGAACTGACTCTGTGCTCTGGGTGGTGTGGCTTTCTCTGCCCTTCAGAGATTCCAGGTCAGGGTTCCAGGTTGGCTTCCTAAGTAGAAATCCATTTGTCAAAACCAGACACCCTCAGTTAGTGAATGTTTAGGGCATGGGTTTCTGCCCATGCATAGGAAAGGTCTTCCCAAGTGGGGCAGGGCTCCACAAAGAGGAGGATGGCCTTGGAGGCTGGCTGACATCCTGCTTTATACCTGAACATCTTGCAGGCAGAGCCAAAAGCCACAACCAGGAGAGTCTGTACCGAACTCTGGTCATCCAGGACTTTCCTTTGGCTGGACTGGAAGAGGGGAAAGGACATTGGGAGGCTGTTTCTCCTCTTTTCCTGCAGCAGGCAATGGCTTCACTGTTTACCAAGTACTGTTTGCCGTGAGCTGGCCTGAGAACTTCCCTGCTATGTAAAATATTCCACCTCATTTGGAAAATACTTTCTAAGTTCCAAACAACTGATTTAGAAATGAGTTTTTAACTTTTTTATAAAAATTGCCAGATAAATATATGAATCTATTTTAGTTGCAAGACATTCAAACAACACAATGTAACAAATGAATATTTGACTGAATTACTGAATTATATAGCTGTTCTGGATGTTTTCCCCTCAGACACATAACCTGGGGAAAATACATGAATTGTGGCCAAACCTGCATTGCACCCGACTATATTCTCTGTGAAGCATCCCTCCAAAATCAAATTGTATGGAAGATTAAGGAAACAGTGAAGGTTTGTATTAAAAACATCTGATTCCACTGATTTTAATAAGATAAGGAGTCAAATTAACTATTCGCAGGCAGCATCCCCATTTGTTTCTCCCTTCAGGAAAATTTCAAAATCATATGTGACTCAGTGAACTTATTGACTAATATGAAAATGCTATGTGTACCATAGAATATATGCTGGGAGCAAGGTTGCATTGGTGTTAAATCTACTTAAACTGTCTAGTTGATTTGTTGATGATTAGTTGTGGCATATACTTTTTTTAAAAAAGTTAAATAATCGTGTGTCCGTGGTTTTGAGGGAATGTTGCCAACCCTTTAGGTATAATCAGAGAGACTCTTTGGCATATTGGCCATTGCTGCTGAAGGTTATCAGTTTTTGTGTATGTAGAGGGCCTAGGGTGGCCAGTAGTTTGGAGGAGTGACTTAATTAAATAACTACTTACAGTATACCCTTTATATAATTAACAATCTTTCAGCGTGTTTAAAGTAAATATTTGCAGTGAGGGAACCAAGGAAGACTGCATGTAGAGTCCTAAGCCAAGACTTGAAGAAATATAGGATTTAAGTTGGTAGAAAGGAATGGGGGCTGGGCACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGGGGCCTAGGGGGGCAGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATCAGCCGGGGATGGTGGTGCATGTCTGTAATTCCAGCTACTCAGGAGGCTAAGGCACGAGATTTGCTTGAACCCTGGCAAGAATCGCTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTTTAAAAAAAAAAAAAAAAAGAAGAATGGGATGACCAAATGACCAGTGTGACTGAGTTCAGCAGTGGGTGAGGATCATTAACCCCTCAGATGAAAGAAATTATTGGAGCAGTCACTGTTTACTCGACAGATGTTAATTGAGCACTAAAAGGAAGGATCAAAAACACCAAAGAGTAATGCATGTGATCTGAAAATGAAAATTGTTGGCCAGACATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTTGATCACTTGAGGTGAGGAGTTAGAGACCAGTTTGGCCAACATGGCAAAACCCATCTCTACTAAAATTACAAAAATTAGCCGGGCATGGTGGCACGCACCTATAATTCTAGCTACTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCATGCTACTGCACTCCAGCCTGGGTAACGGAATGAGATTTTATCTCAAAAGAAAAAAAGATATGAAAATTGTCGCCGTTGTGGTGGTTCACTCCTGTAATCCGAGCACTTTGGGAGGCTAAGGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGGTCAACATAATGAGACCCTGTGTCTACAAAAGAAAAAAAGGTTAGCTGGGTATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCCAGAAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCCATTATTGCATCACTGTGCTCCAGCCTGAGTGACAGCATAAGACTCTGTCTCAAAAAAACAAAAAAAGAGAAAATTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGACAGATCACTTGAGGCCAGGAATTCAAGACCAGCTGGGCAACGTAGCAAAATCTTGTCGCTACAAGAAATACAAAAATTCAGGTGTACCGGCGTGTACGTGTGGTCCCAGCTACTTGGCAGGCTGAGGTAGGAGGATCGCTTGATCCTCCTGGGAGGCGGAGGCTGCAGTGAGCCAA
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Task1_train_23878
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A mutation in ALDH3A2 (aldehyde dehydrogenase 3 family member A2), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; not provided
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TAGCTACTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCATGCTACTGCACTCCAGCCTGGGTAACGGAATGAGATTTTATCTCAAAAGAAAAAAAGATATGAAAATTGTCGCCGTTGTGGTGGTTCACTCCTGTAATCCGAGCACTTTGGGAGGCTAAGGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGGTCAACATAATGAGACCCTGTGTCTACAAAAGAAAAAAAGGTTAGCTGGGTATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCCAGAAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCCATTATTGCATCACTGTGCTCCAGCCTGAGTGACAGCATAAGACTCTGTCTCAAAAAAACAAAAAAAGAGAAAATTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGACAGATCACTTGAGGCCAGGAATTCAAGACCAGCTGGGCAACGTAGCAAAATCTTGTCGCTACAAGAAATACAAAAATTCAGGTGTACCGGCGTGTACGTGTGGTCCCAGCTACTTGGCAGGCTGAGGTAGGAGGATCGCTTGATCCTCCTGGGAGGCGGAGGCTGCAGTGAGCCAAGAATGTGCCACTGGACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAGAGAAAATTATGTACCAGGAAGTTCAGGACAATAGTTCACTATGTGTTCCAGGCAGAGTAACTTGGGGGATGAGGTGCTAGGGTCTTGACATGGAAATTGGACTATCATTTTTAGTCATAGGACTAAAAATGGATCCAGATGAGCACATGAAGGGAGAGTTGCCCAGATTCAGGGTATGTGGGAAGAGAGAGTGGTTAAAGATACTTGTGAGATTGAAAATATTTGGGAATTGGAGAATGCTTAGTTGAGTGTGGTGATGAATTCAATTTCAAAGGAATAAGGGCCTCTGCCTCCCTTTGAGGCATTTATACTCTTAACACAGTGGTTCTCAAGCTACATGTTACCCTAGTGAGCCATTTAAAAACAAGTTTGCAAGCCTTACCCTCCAAAGATTCAGCTCGTCTGAGGCCTCCAGGTGATTCTATGATGCATTCAGCATTGAAAACTACTGTTGGTGACTCTCGAGTCAGAGCCCAGGCACATGCATTTTAGCAAGCTGCACCAGTGATTCCGACCACCCAGACTTGAGAATTGCTCTTGGTAGAGGTTGGATGAACAATGTTCATTTTGATTTGGGATGAAATTGGGAACTCTCACAAGGCTTTGAAGTGATGCAGCAATTCAGTAATTTTGTTTGTTTTACTAAGTAAATATTGATTGTATGATTATTGACGTTCTTTTACCTTGGTAATTTACCAAAGCTGTATTTTGATCCTTCGGGTGGTTTCACCATCATGTGTAAGTGGTGGAAATACCAGTTCAAAGAAGACCAAAACAACAAAGTGGAGCAAAGATTGGCAAATGGTTTCTGTAAAGGGCTAGATGGTAAATATTTCAGGCTTTGCAGATGTTAGGGTCTCTGCTGTAACTACCGAACTTACTGTAGGGGGAAAGCAGGCACAGCCAATGTGCTAACAAATAGGCAACTCTGATGCAGAGCAAGACTTCTTTCCCCAGCCTGCTCCCACTGTCAGCCCCAGGAGGTGAAGGCCTGTGGGTGGACTCTAAGAGATCCATAAGAACCTTTGGAACTATGGACAATGACAGATCTCTGTGTGTGTGCATGCTTTATTTTCTGGTCCTCGACCTGCCAAAAAGCTGAAACTTGCTACTATCATACTACTGTTAAATTACTTGAGGGGTGGGGTGTTAGATTCTGTGAGGATATAAAACCAGATTGATTTTGGGGCATGGCTGGATTTTGTACTTACTGAAATTGAATTGTGGGTCTTTGTGACATTTATATACTCCTGTTGTTTTAAATAGGAATTTTATGGAGAAAATATAAAAGAGTCTCCTGATTATGAAAGGATCATCAATCTTCGTCATTTTAAGAGGATACTAAGTTTGCTTGAAGGACAAAAGATAGCTTTTGGTGGGGAGACTGATGAGGCCACACGCTACATAGGTAATGGAAATTCTCCTTTTCCTATGGGAAGATGGCAATTTGGCAGTTTTTGCTGACACTACTTATTAACACTAGATAAACTATTAAATATATAGCATTTAATTGTTAAAGTACTAAATCCTGCTTTCTGGTATACTGTACCTGTAGCTTTTGTTATAAACTATTTAAAATGTCTGTGTTTCTGTGTATTGAATGATGCCACCAGCGTTGCTCCAGTTGTTCATATTTACACATAACTCCTTTTTTCCTCCTAACAATCCTGAGAAGCAGAATAGAACTTGATGTAATTATCTGTAGTTTGTGGATGGGAAAACAGCACAAAGAAGGAAATAGCTTGGCCACTATTCCACAATTAACCAGTGACGGTACCATTCCAGAAATAATGTTTTGGTCCATCATGCTTGACCTTATTATTTGTGTACCTTCTTTGTGCTTTTTCTTCTTTGCCTTGAATATGTATTACTTTGAATGTTAAGCACATTTTTCTACAGTAACATATAAGGTGACAGAAAAATTAGACACATTTTGCTGGCAAAGAAGCTGCACCACCTAGCTTTACTTATCCCCTTTATCAGATAAGATGCTATAAGTCACCAAAAAAAAAAAAATCAACTTTAAAAAAAAAAACTTAAAAATGAAATAATAAGCAGAATTGATTCTCTTATAATTAGCAGTCCCGAGGTTCTCCTGAGCTAGATAATTCAGTGGCCCCGTGGTACCATCAAAAAACCCTGATTCTTTGTACTAGGATGCAAAAGAAAACAATCCTTGTGCCTTCTATCTCTCTTGGTGGCAGCCCAGATTGAATTGGGGAATACATCTGTAGAAAAAAGAGAAAACAGACTCTACTTGTTTCACCTCTCTGTTCTCCCATCCTCAGCATGTCCACATTGCCTATTTCTAGGCTAATGAATGGTAAGAGGAAGGGGCTATCCTGATTAGCTTATAGACTAATTAGGACTTTCCCCTGACTTCGAGCTGGGATCATCTTACCTGAGCATGGCTATGCAGAGGAAGTAGACACTCAGCCCAAATTGTTTCTCTGACCTGAGGAAGATGTGGGCAATGGATTTGGAGTGGCAGTTTATATACCCCCTGGAAGTGGTGCTGCAAGAAGCTGTCCCCAGCCACATTGCCAAGATAACCTATTAGAAACTGGGGGTAAAGGAAAAGTGCCAACTTGTTATTGTCAGATGACTTCTCTTTTGGTTGACGAGCCAGTTTCTTACTTACAGCATCTTTTGGAGTACTGCTAGTTGGTGACTTACATTGGCAGCAGATGCTGGGACACTTTGTCTAGCCTCCCCAGCATCTGTTTCACCCTCCTTTCTTGTGCCTCTTCCCCATGGTAGATGGAACAGTGGACTAAGGTTTAGGGAATTTTGACCATTTAAGTCTGTTTTCTTAATCTGTCTAACAGAGTTATAATAAAGGTTAATGAGATCATATATATGAAAGCACTCGAGTTAAGAAAAATAGTATTGATTTGATTCACAGAGGAGCTGTCTTTGCTCCTAGAAAGACCTGTCCATTCGAGACCAGCCTGACCCAACATGGAGAAACCTCATCTCTACTAAAAATACAAAACTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACTCCAGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGCAACAAGGGCGAAACTCCATCTCAAAAAAAAAACCTGTCCACAGAAAAATGTTAAGTATAATCTACAGTTAAATACATGCATGGCTGTGAACAGGGTTCAATGTGAAAAAGATATATTTGAGTGTGTATCGTTCCCTTGGTTTGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCA
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TAGCTACTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCATGCTACTGCACTCCAGCCTGGGTAACGGAATGAGATTTTATCTCAAAAGAAAAAAAGATATGAAAATTGTCGCCGTTGTGGTGGTTCACTCCTGTAATCCGAGCACTTTGGGAGGCTAAGGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGGTCAACATAATGAGACCCTGTGTCTACAAAAGAAAAAAAGGTTAGCTGGGTATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCCAGAAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCCATTATTGCATCACTGTGCTCCAGCCTGAGTGACAGCATAAGACTCTGTCTCAAAAAAACAAAAAAAGAGAAAATTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGACAGATCACTTGAGGCCAGGAATTCAAGACCAGCTGGGCAACGTAGCAAAATCTTGTCGCTACAAGAAATACAAAAATTCAGGTGTACCGGCGTGTACGTGTGGTCCCAGCTACTTGGCAGGCTGAGGTAGGAGGATCGCTTGATCCTCCTGGGAGGCGGAGGCTGCAGTGAGCCAAGAATGTGCCACTGGACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAGAGAAAATTATGTACCAGGAAGTTCAGGACAATAGTTCACTATGTGTTCCAGGCAGAGTAACTTGGGGGATGAGGTGCTAGGGTCTTGACATGGAAATTGGACTATCATTTTTAGTCATAGGACTAAAAATGGATCCAGATGAGCACATGAAGGGAGAGTTGCCCAGATTCAGGGTATGTGGGAAGAGAGAGTGGTTAAAGATACTTGTGAGATTGAAAATATTTGGGAATTGGAGAATGCTTAGTTGAGTGTGGTGATGAATTCAATTTCAAAGGAATAAGGGCCTCTGCCTCCCTTTGAGGCATTTATACTCTTAACACAGTGGTTCTCAAGCTACATGTTACCCTAGTGAGCCATTTAAAAACAAGTTTGCAAGCCTTACCCTCCAAAGATTCAGCTCGTCTGAGGCCTCCAGGTGATTCTATGATGCATTCAGCATTGAAAACTACTGTTGGTGACTCTCGAGTCAGAGCCCAGGCACATGCATTTTAGCAAGCTGCACCAGTGATTCCGACCACCCAGACTTGAGAATTGCTCTTGGTAGAGGTTGGATGAACAATGTTCATTTTGATTTGGGATGAAATTGGGAACTCTCACAAGGCTTTGAAGTGATGCAGCAATTCAGTAATTTTGTTTGTTTTACTAAGTAAATATTGATTGTATGATTATTGACGTTCTTTTACCTTGGTAATTTACCAAAGCTGTATTTTGATCCTTCGGGTGGTTTCACCATCATGTGTAAGTGGTGGAAATACCAGTTCAAAGAAGACCAAAACAACAAAGTGGAGCAAAGATTGGCAAATGGTTTCTGTAAAGGGCTAGATGGTAAATATTTCAGGCTTTGCAGATGTTAGGGTCTCTGCTGTAACTACCGAACTTACTGTAGGGGGAAAGCAGGCACAGCCAATGTGCTAACAAATAGGCAACTCTGATGCAGAGCAAGACTTCTTTCCCCAGCCTGCTCCCACTGTCAGCCCCAGGAGGTGAAGGCCTGTGGGTGGACTCTAAGAGATCCATAAGAACCTTTGGAACTATGGACAATGACAGATCTCTGTGTGTGTGCATGCTTTATTTTCTGGTCCTCGACCTGCCAAAAAGCTGAAACTTGCTACTATCATACTACTGTTAAATTACTTGAGGGGTGGGGTGTTAGATTCTGTGAGGATATAAAACCAGATTGATTTTGGGGCATGGCTGGATTTTGTACTTACTGAAATTGAATTGTGGGTCTTTGTGACATTTATATACTCCTGTTGTTTTAAATAGGAATTTTATGGAGAAAATATAAAAGAGTCTCCTGATAATGAAAGGATCATCAATCTTCGTCATTTTAAGAGGATACTAAGTTTGCTTGAAGGACAAAAGATAGCTTTTGGTGGGGAGACTGATGAGGCCACACGCTACATAGGTAATGGAAATTCTCCTTTTCCTATGGGAAGATGGCAATTTGGCAGTTTTTGCTGACACTACTTATTAACACTAGATAAACTATTAAATATATAGCATTTAATTGTTAAAGTACTAAATCCTGCTTTCTGGTATACTGTACCTGTAGCTTTTGTTATAAACTATTTAAAATGTCTGTGTTTCTGTGTATTGAATGATGCCACCAGCGTTGCTCCAGTTGTTCATATTTACACATAACTCCTTTTTTCCTCCTAACAATCCTGAGAAGCAGAATAGAACTTGATGTAATTATCTGTAGTTTGTGGATGGGAAAACAGCACAAAGAAGGAAATAGCTTGGCCACTATTCCACAATTAACCAGTGACGGTACCATTCCAGAAATAATGTTTTGGTCCATCATGCTTGACCTTATTATTTGTGTACCTTCTTTGTGCTTTTTCTTCTTTGCCTTGAATATGTATTACTTTGAATGTTAAGCACATTTTTCTACAGTAACATATAAGGTGACAGAAAAATTAGACACATTTTGCTGGCAAAGAAGCTGCACCACCTAGCTTTACTTATCCCCTTTATCAGATAAGATGCTATAAGTCACCAAAAAAAAAAAAATCAACTTTAAAAAAAAAAACTTAAAAATGAAATAATAAGCAGAATTGATTCTCTTATAATTAGCAGTCCCGAGGTTCTCCTGAGCTAGATAATTCAGTGGCCCCGTGGTACCATCAAAAAACCCTGATTCTTTGTACTAGGATGCAAAAGAAAACAATCCTTGTGCCTTCTATCTCTCTTGGTGGCAGCCCAGATTGAATTGGGGAATACATCTGTAGAAAAAAGAGAAAACAGACTCTACTTGTTTCACCTCTCTGTTCTCCCATCCTCAGCATGTCCACATTGCCTATTTCTAGGCTAATGAATGGTAAGAGGAAGGGGCTATCCTGATTAGCTTATAGACTAATTAGGACTTTCCCCTGACTTCGAGCTGGGATCATCTTACCTGAGCATGGCTATGCAGAGGAAGTAGACACTCAGCCCAAATTGTTTCTCTGACCTGAGGAAGATGTGGGCAATGGATTTGGAGTGGCAGTTTATATACCCCCTGGAAGTGGTGCTGCAAGAAGCTGTCCCCAGCCACATTGCCAAGATAACCTATTAGAAACTGGGGGTAAAGGAAAAGTGCCAACTTGTTATTGTCAGATGACTTCTCTTTTGGTTGACGAGCCAGTTTCTTACTTACAGCATCTTTTGGAGTACTGCTAGTTGGTGACTTACATTGGCAGCAGATGCTGGGACACTTTGTCTAGCCTCCCCAGCATCTGTTTCACCCTCCTTTCTTGTGCCTCTTCCCCATGGTAGATGGAACAGTGGACTAAGGTTTAGGGAATTTTGACCATTTAAGTCTGTTTTCTTAATCTGTCTAACAGAGTTATAATAAAGGTTAATGAGATCATATATATGAAAGCACTCGAGTTAAGAAAAATAGTATTGATTTGATTCACAGAGGAGCTGTCTTTGCTCCTAGAAAGACCTGTCCATTCGAGACCAGCCTGACCCAACATGGAGAAACCTCATCTCTACTAAAAATACAAAACTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACTCCAGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGCAACAAGGGCGAAACTCCATCTCAAAAAAAAAACCTGTCCACAGAAAAATGTTAAGTATAATCTACAGTTAAATACATGCATGGCTGTGAACAGGGTTCAATGTGAAAAAGATATATTTGAGTGTGTATCGTTCCCTTGGTTTGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCA
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Task1_train_23879
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This variant affects gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Sjögren-Larsson syndrome
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AACTATTAAATATATAGCATTTAATTGTTAAAGTACTAAATCCTGCTTTCTGGTATACTGTACCTGTAGCTTTTGTTATAAACTATTTAAAATGTCTGTGTTTCTGTGTATTGAATGATGCCACCAGCGTTGCTCCAGTTGTTCATATTTACACATAACTCCTTTTTTCCTCCTAACAATCCTGAGAAGCAGAATAGAACTTGATGTAATTATCTGTAGTTTGTGGATGGGAAAACAGCACAAAGAAGGAAATAGCTTGGCCACTATTCCACAATTAACCAGTGACGGTACCATTCCAGAAATAATGTTTTGGTCCATCATGCTTGACCTTATTATTTGTGTACCTTCTTTGTGCTTTTTCTTCTTTGCCTTGAATATGTATTACTTTGAATGTTAAGCACATTTTTCTACAGTAACATATAAGGTGACAGAAAAATTAGACACATTTTGCTGGCAAAGAAGCTGCACCACCTAGCTTTACTTATCCCCTTTATCAGATAAGATGCTATAAGTCACCAAAAAAAAAAAAATCAACTTTAAAAAAAAAAACTTAAAAATGAAATAATAAGCAGAATTGATTCTCTTATAATTAGCAGTCCCGAGGTTCTCCTGAGCTAGATAATTCAGTGGCCCCGTGGTACCATCAAAAAACCCTGATTCTTTGTACTAGGATGCAAAAGAAAACAATCCTTGTGCCTTCTATCTCTCTTGGTGGCAGCCCAGATTGAATTGGGGAATACATCTGTAGAAAAAAGAGAAAACAGACTCTACTTGTTTCACCTCTCTGTTCTCCCATCCTCAGCATGTCCACATTGCCTATTTCTAGGCTAATGAATGGTAAGAGGAAGGGGCTATCCTGATTAGCTTATAGACTAATTAGGACTTTCCCCTGACTTCGAGCTGGGATCATCTTACCTGAGCATGGCTATGCAGAGGAAGTAGACACTCAGCCCAAATTGTTTCTCTGACCTGAGGAAGATGTGGGCAATGGATTTGGAGTGGCAGTTTATATACCCCCTGGAAGTGGTGCTGCAAGAAGCTGTCCCCAGCCACATTGCCAAGATAACCTATTAGAAACTGGGGGTAAAGGAAAAGTGCCAACTTGTTATTGTCAGATGACTTCTCTTTTGGTTGACGAGCCAGTTTCTTACTTACAGCATCTTTTGGAGTACTGCTAGTTGGTGACTTACATTGGCAGCAGATGCTGGGACACTTTGTCTAGCCTCCCCAGCATCTGTTTCACCCTCCTTTCTTGTGCCTCTTCCCCATGGTAGATGGAACAGTGGACTAAGGTTTAGGGAATTTTGACCATTTAAGTCTGTTTTCTTAATCTGTCTAACAGAGTTATAATAAAGGTTAATGAGATCATATATATGAAAGCACTCGAGTTAAGAAAAATAGTATTGATTTGATTCACAGAGGAGCTGTCTTTGCTCCTAGAAAGACCTGTCCATTCGAGACCAGCCTGACCCAACATGGAGAAACCTCATCTCTACTAAAAATACAAAACTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACTCCAGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGCAACAAGGGCGAAACTCCATCTCAAAAAAAAAACCTGTCCACAGAAAAATGTTAAGTATAATCTACAGTTAAATACATGCATGGCTGTGAACAGGGTTCAATGTGAAAAAGATATATTTGAGTGTGTATCGTTCCCTTGGTTTGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCAATAGATATGACTTGGGTGGGAGAGGGAAAGGCATGGATAAGTGACCCAATGAAAGAGATGTAATATGAGAGTTGTGCATTTTTGTCTAATAAGCATTTTCATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGATCCTAAAACCAAGGTGATGCAAGAAGAAATTTTTGGACCAATTCTTCCAATAGTGCCTGTGAAAAATGTAGATGAGGCCATAAATTTCATAAATGAACGTGAAAAGCCTCTGGCTCTTTATGTATTTTCGCATAACCATAAGGTAAGCTTTAGAGAGAACAGCTAGTTAGCATAAGCAACTGTCAAGAGTCATGTTCCTTCTTTGCTGTAAAACAATGCAAAAAACAATGTGAAACAATGATGGTTTCTTTTGTGTCATGTCAGAGTCCATCCACTAAGTGAGGTTGTGTTCCGAGGTTGCTGTCTTGGTTAATGAGACTCTGGGGTTATCACAGCATCCATTCCCCTCCTCCCTCGGGTTAGATCTGAGTCTGCAGGGTTGAGTGTCACAAGGTTTTTGATTCACAAACATCTCCTGTATAATTGGAAGACTTATATGTGCCAGCATTAAATGCTTTTCTGATGTTAATCCACAGGGCATTGCTGAATAACAGCCTGCACAAAATGGCATTCACACCCACTGTGTGGGACAAAGACCCCGACACTGTCACATAAATGGTTGTGATATGATGGATTTTAGTTTCTAACATGACGCTAGCTTCTTGTTAGAGTGGTGGAACTGCATCACCTGGTTGAGCAGTTCTGCCACTTTCTGCATGGCTCACTCATTCATGTCACTAGGTGACCAGCCGCTACTAAGAGACCATGGCCCAAATGTTTTCTGGAGAGCTTCTGATGGTAATGTATAGATAGTCATGTGACAGCTTTTGGAGCTTGTGAGACTATTGAGATACAGATAGCTACAGGTATTTGAAGTGAGACCAAATGTGTGGGGCTCAGTAAAGACTGGGTTATTAACAAAACAATGGTTTGACATTTAAAACCATGGATAATGTGGGCAGGAAGGAACCCTGAAGCCGAAAGTAGGCTGGCCAGGGTATAAGTCAGGTGTGGAGCACTTCCCAGCAGTGGGTCACCCGAGGTCACTATAGTCCAGACTTGACGTTTGCCATGAACAATTGTCAAGGGCTTGCTGGCACCCAAGGGTAAATGACGTTTACTAGTCAAGTGTTCTTGTGCTTTTCTGAGCCTTAGGCCAAACAACCATTTATTTCTTAAAAAATAGGATGCTAAATCTAAAGTCTTAAATATTTTTACATTTCATAAAGACTAAATAATACCTATTAATCATGTGTTATAATTTAAAGCAGAGATAAGAAAGAAATAATAACAGTTTTTAAAGCTGGAATATAGTCTAAGCTGTCCCCTTTTAAAGAGTCTTTTGCTGCTGTGTTGGGGAGTACAACTCCAGGTTGTGGCTGAGTAGGCCCAGAGGTTTGGAGCTGCCTCCTTTTGTGCACTAGATGTGTGTCTGAGAAGTTGGGTATCAGTCACTTTGCTAAATTAACCAGTTGAGATTGTTTGTCTATCTGGCATGGTGTCCCCAAACTCGAGAATTTTCACTGACACAAAGCCAGAATGTGCATGCTTTGAGCACATAACTGAGCACACAGCCCTCTGTGTGGTGGGGCCATGAGTGTTCCCTAAGGGGCAACTTCACTGACCTGGACACCTTTGGTCTGTCCTCAGCTCATCAAACGGATGATTGATGAGACATCCAGTGGAGGTGTCACAGGCAATGACGTCATTATGCACTTCACGCTCAACTCTTTCCCATTTGGAGGAGTGGGTGAGTCTTATTTTCTCCTGCTTGTAGTAGATATTTCAAAAGCACCACCATTTCATGAGTGGATTGTATGGGCTGCTGAAATAGCCAGCTGTTGCGTACCCTGATTGTCCTCTCCTGAGGGAGACCTTTTCCTGGTCACCCAGTTGACTGGTTTTCCTGCTTCCCCACCCACCCCTCCAGCATAGGGCAAATGTCTTGTCACTCTCTTTCTGTCAGCAGCACTGACTGACCACAGCTTTGTTCACTTCGTTGATTTTGTTATCCTGCCACATTTAGGAGATTTGGGAACCAAGAATCAGGTCTCAAATTAATTAAGAAGATCTCTCTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTTTAATGAAGTAGCAAATGAAAGG
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AACTATTAAATATATAGCATTTAATTGTTAAAGTACTAAATCCTGCTTTCTGGTATACTGTACCTGTAGCTTTTGTTATAAACTATTTAAAATGTCTGTGTTTCTGTGTATTGAATGATGCCACCAGCGTTGCTCCAGTTGTTCATATTTACACATAACTCCTTTTTTCCTCCTAACAATCCTGAGAAGCAGAATAGAACTTGATGTAATTATCTGTAGTTTGTGGATGGGAAAACAGCACAAAGAAGGAAATAGCTTGGCCACTATTCCACAATTAACCAGTGACGGTACCATTCCAGAAATAATGTTTTGGTCCATCATGCTTGACCTTATTATTTGTGTACCTTCTTTGTGCTTTTTCTTCTTTGCCTTGAATATGTATTACTTTGAATGTTAAGCACATTTTTCTACAGTAACATATAAGGTGACAGAAAAATTAGACACATTTTGCTGGCAAAGAAGCTGCACCACCTAGCTTTACTTATCCCCTTTATCAGATAAGATGCTATAAGTCACCAAAAAAAAAAAAATCAACTTTAAAAAAAAAAACTTAAAAATGAAATAATAAGCAGAATTGATTCTCTTATAATTAGCAGTCCCGAGGTTCTCCTGAGCTAGATAATTCAGTGGCCCCGTGGTACCATCAAAAAACCCTGATTCTTTGTACTAGGATGCAAAAGAAAACAATCCTTGTGCCTTCTATCTCTCTTGGTGGCAGCCCAGATTGAATTGGGGAATACATCTGTAGAAAAAAGAGAAAACAGACTCTACTTGTTTCACCTCTCTGTTCTCCCATCCTCAGCATGTCCACATTGCCTATTTCTAGGCTAATGAATGGTAAGAGGAAGGGGCTATCCTGATTAGCTTATAGACTAATTAGGACTTTCCCCTGACTTCGAGCTGGGATCATCTTACCTGAGCATGGCTATGCAGAGGAAGTAGACACTCAGCCCAAATTGTTTCTCTGACCTGAGGAAGATGTGGGCAATGGATTTGGAGTGGCAGTTTATATACCCCCTGGAAGTGGTGCTGCAAGAAGCTGTCCCCAGCCACATTGCCAAGATAACCTATTAGAAACTGGGGGTAAAGGAAAAGTGCCAACTTGTTATTGTCAGATGACTTCTCTTTTGGTTGACGAGCCAGTTTCTTACTTACAGCATCTTTTGGAGTACTGCTAGTTGGTGACTTACATTGGCAGCAGATGCTGGGACACTTTGTCTAGCCTCCCCAGCATCTGTTTCACCCTCCTTTCTTGTGCCTCTTCCCCATGGTAGATGGAACAGTGGACTAAGGTTTAGGGAATTTTGACCATTTAAGTCTGTTTTCTTAATCTGTCTAACAGAGTTATAATAAAGGTTAATGAGATCATATATATGAAAGCACTCGAGTTAAGAAAAATAGTATTGATTTGATTCACAGAGGAGCTGTCTTTGCTCCTAGAAAGACCTGTCCATTCGAGACCAGCCTGACCCAACATGGAGAAACCTCATCTCTACTAAAAATACAAAACTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACTCCAGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGCAACAAGGGCGAAACTCCATCTCAAAAAAAAAACCTGTCCACAGAAAAATGTTAAGTATAATCTACAGTTAAATACATGCATGGCTGTGAACAGGGTTCAATGTGAAAAAGATATATTTGAGTGTGTATCGTTCCCTTGGTTTGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCAATAGATATGACTTGGGTGGGAGAGGGAAAGGCATGGATAAGTGACCCAATGAAAGAGATGTAATATGAGAGTTGTGCATTTTTGTCTAATAAGCATTTTCATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGATCCTAAAACCAAGGTGATGCAAGAAGAAATTTTTGGATCAATTCTTCCAATAGTGCCTGTGAAAAATGTAGATGAGGCCATAAATTTCATAAATGAACGTGAAAAGCCTCTGGCTCTTTATGTATTTTCGCATAACCATAAGGTAAGCTTTAGAGAGAACAGCTAGTTAGCATAAGCAACTGTCAAGAGTCATGTTCCTTCTTTGCTGTAAAACAATGCAAAAAACAATGTGAAACAATGATGGTTTCTTTTGTGTCATGTCAGAGTCCATCCACTAAGTGAGGTTGTGTTCCGAGGTTGCTGTCTTGGTTAATGAGACTCTGGGGTTATCACAGCATCCATTCCCCTCCTCCCTCGGGTTAGATCTGAGTCTGCAGGGTTGAGTGTCACAAGGTTTTTGATTCACAAACATCTCCTGTATAATTGGAAGACTTATATGTGCCAGCATTAAATGCTTTTCTGATGTTAATCCACAGGGCATTGCTGAATAACAGCCTGCACAAAATGGCATTCACACCCACTGTGTGGGACAAAGACCCCGACACTGTCACATAAATGGTTGTGATATGATGGATTTTAGTTTCTAACATGACGCTAGCTTCTTGTTAGAGTGGTGGAACTGCATCACCTGGTTGAGCAGTTCTGCCACTTTCTGCATGGCTCACTCATTCATGTCACTAGGTGACCAGCCGCTACTAAGAGACCATGGCCCAAATGTTTTCTGGAGAGCTTCTGATGGTAATGTATAGATAGTCATGTGACAGCTTTTGGAGCTTGTGAGACTATTGAGATACAGATAGCTACAGGTATTTGAAGTGAGACCAAATGTGTGGGGCTCAGTAAAGACTGGGTTATTAACAAAACAATGGTTTGACATTTAAAACCATGGATAATGTGGGCAGGAAGGAACCCTGAAGCCGAAAGTAGGCTGGCCAGGGTATAAGTCAGGTGTGGAGCACTTCCCAGCAGTGGGTCACCCGAGGTCACTATAGTCCAGACTTGACGTTTGCCATGAACAATTGTCAAGGGCTTGCTGGCACCCAAGGGTAAATGACGTTTACTAGTCAAGTGTTCTTGTGCTTTTCTGAGCCTTAGGCCAAACAACCATTTATTTCTTAAAAAATAGGATGCTAAATCTAAAGTCTTAAATATTTTTACATTTCATAAAGACTAAATAATACCTATTAATCATGTGTTATAATTTAAAGCAGAGATAAGAAAGAAATAATAACAGTTTTTAAAGCTGGAATATAGTCTAAGCTGTCCCCTTTTAAAGAGTCTTTTGCTGCTGTGTTGGGGAGTACAACTCCAGGTTGTGGCTGAGTAGGCCCAGAGGTTTGGAGCTGCCTCCTTTTGTGCACTAGATGTGTGTCTGAGAAGTTGGGTATCAGTCACTTTGCTAAATTAACCAGTTGAGATTGTTTGTCTATCTGGCATGGTGTCCCCAAACTCGAGAATTTTCACTGACACAAAGCCAGAATGTGCATGCTTTGAGCACATAACTGAGCACACAGCCCTCTGTGTGGTGGGGCCATGAGTGTTCCCTAAGGGGCAACTTCACTGACCTGGACACCTTTGGTCTGTCCTCAGCTCATCAAACGGATGATTGATGAGACATCCAGTGGAGGTGTCACAGGCAATGACGTCATTATGCACTTCACGCTCAACTCTTTCCCATTTGGAGGAGTGGGTGAGTCTTATTTTCTCCTGCTTGTAGTAGATATTTCAAAAGCACCACCATTTCATGAGTGGATTGTATGGGCTGCTGAAATAGCCAGCTGTTGCGTACCCTGATTGTCCTCTCCTGAGGGAGACCTTTTCCTGGTCACCCAGTTGACTGGTTTTCCTGCTTCCCCACCCACCCCTCCAGCATAGGGCAAATGTCTTGTCACTCTCTTTCTGTCAGCAGCACTGACTGACCACAGCTTTGTTCACTTCGTTGATTTTGTTATCCTGCCACATTTAGGAGATTTGGGAACCAAGAATCAGGTCTCAAATTAATTAAGAAGATCTCTCTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTTTAATGAAGTAGCAAATGAAAGG
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Task1_train_23880
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Located on Chromosome 17, this mutation impacts ALDH3A2 (aldehyde dehydrogenase 3 family member A2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; not specified
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AAACTCCATCTCAAAAAAAAAACCTGTCCACAGAAAAATGTTAAGTATAATCTACAGTTAAATACATGCATGGCTGTGAACAGGGTTCAATGTGAAAAAGATATATTTGAGTGTGTATCGTTCCCTTGGTTTGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCAATAGATATGACTTGGGTGGGAGAGGGAAAGGCATGGATAAGTGACCCAATGAAAGAGATGTAATATGAGAGTTGTGCATTTTTGTCTAATAAGCATTTTCATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGATCCTAAAACCAAGGTGATGCAAGAAGAAATTTTTGGACCAATTCTTCCAATAGTGCCTGTGAAAAATGTAGATGAGGCCATAAATTTCATAAATGAACGTGAAAAGCCTCTGGCTCTTTATGTATTTTCGCATAACCATAAGGTAAGCTTTAGAGAGAACAGCTAGTTAGCATAAGCAACTGTCAAGAGTCATGTTCCTTCTTTGCTGTAAAACAATGCAAAAAACAATGTGAAACAATGATGGTTTCTTTTGTGTCATGTCAGAGTCCATCCACTAAGTGAGGTTGTGTTCCGAGGTTGCTGTCTTGGTTAATGAGACTCTGGGGTTATCACAGCATCCATTCCCCTCCTCCCTCGGGTTAGATCTGAGTCTGCAGGGTTGAGTGTCACAAGGTTTTTGATTCACAAACATCTCCTGTATAATTGGAAGACTTATATGTGCCAGCATTAAATGCTTTTCTGATGTTAATCCACAGGGCATTGCTGAATAACAGCCTGCACAAAATGGCATTCACACCCACTGTGTGGGACAAAGACCCCGACACTGTCACATAAATGGTTGTGATATGATGGATTTTAGTTTCTAACATGACGCTAGCTTCTTGTTAGAGTGGTGGAACTGCATCACCTGGTTGAGCAGTTCTGCCACTTTCTGCATGGCTCACTCATTCATGTCACTAGGTGACCAGCCGCTACTAAGAGACCATGGCCCAAATGTTTTCTGGAGAGCTTCTGATGGTAATGTATAGATAGTCATGTGACAGCTTTTGGAGCTTGTGAGACTATTGAGATACAGATAGCTACAGGTATTTGAAGTGAGACCAAATGTGTGGGGCTCAGTAAAGACTGGGTTATTAACAAAACAATGGTTTGACATTTAAAACCATGGATAATGTGGGCAGGAAGGAACCCTGAAGCCGAAAGTAGGCTGGCCAGGGTATAAGTCAGGTGTGGAGCACTTCCCAGCAGTGGGTCACCCGAGGTCACTATAGTCCAGACTTGACGTTTGCCATGAACAATTGTCAAGGGCTTGCTGGCACCCAAGGGTAAATGACGTTTACTAGTCAAGTGTTCTTGTGCTTTTCTGAGCCTTAGGCCAAACAACCATTTATTTCTTAAAAAATAGGATGCTAAATCTAAAGTCTTAAATATTTTTACATTTCATAAAGACTAAATAATACCTATTAATCATGTGTTATAATTTAAAGCAGAGATAAGAAAGAAATAATAACAGTTTTTAAAGCTGGAATATAGTCTAAGCTGTCCCCTTTTAAAGAGTCTTTTGCTGCTGTGTTGGGGAGTACAACTCCAGGTTGTGGCTGAGTAGGCCCAGAGGTTTGGAGCTGCCTCCTTTTGTGCACTAGATGTGTGTCTGAGAAGTTGGGTATCAGTCACTTTGCTAAATTAACCAGTTGAGATTGTTTGTCTATCTGGCATGGTGTCCCCAAACTCGAGAATTTTCACTGACACAAAGCCAGAATGTGCATGCTTTGAGCACATAACTGAGCACACAGCCCTCTGTGTGGTGGGGCCATGAGTGTTCCCTAAGGGGCAACTTCACTGACCTGGACACCTTTGGTCTGTCCTCAGCTCATCAAACGGATGATTGATGAGACATCCAGTGGAGGTGTCACAGGCAATGACGTCATTATGCACTTCACGCTCAACTCTTTCCCATTTGGAGGAGTGGGTGAGTCTTATTTTCTCCTGCTTGTAGTAGATATTTCAAAAGCACCACCATTTCATGAGTGGATTGTATGGGCTGCTGAAATAGCCAGCTGTTGCGTACCCTGATTGTCCTCTCCTGAGGGAGACCTTTTCCTGGTCACCCAGTTGACTGGTTTTCCTGCTTCCCCACCCACCCCTCCAGCATAGGGCAAATGTCTTGTCACTCTCTTTCTGTCAGCAGCACTGACTGACCACAGCTTTGTTCACTTCGTTGATTTTGTTATCCTGCCACATTTAGGAGATTTGGGAACCAAGAATCAGGTCTCAAATTAATTAAGAAGATCTCTCTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTTTAATGAAGTAGCAAATGAAAGGTTCGGAATACCAGGGACAGAAGGTAGAGGGGTTTTCTAATGTGCCTTTGTTTTCTGCTCAGTTCTTACCTGCATTGTTCCCCAGCCCTTTGTTGGGAGGAGCAGCCTCTCCTTGAATTGTTTTGTGATTTGAGTAAAACGGGACTCCCCCTGTTCTAGAGAGGATGGGCAGAAAGAAATTCATTCCAAGTGAAGCTTTGTGGACATAGCCTGATCCTTGCTTTTCCCTTTAGAACATGACCTGCCTGCCTCTCCCACATGTGAGATGACTGACTCAGCTTTTTATTTCTCCTTTGGGACCTAGGCTAGGTGGGCTTTTCTACTCTCTACTAGAGCTATTACAAAATAGCCGATATGTAAACATTCTCATAACAAAAACCCAACCAGAAAAGCCACTGTCTTAAAGCCCTGTTCTATCCTCTCCCTTTGTAATACCGTCCTAAGTCAGTTGCTCCATGGGATGCGATGGCCCAGTTTGGCAGGACCATCTGTTCCTGGTTAAGGAAACCTTGTCCTATGACCAAGGAGCCTTGACCTATATAGCCACAGGTCCTTGTCTAGGAGGTAAACATATTGCCAGCACCCAGCACAGTGACTGACATGAGTGAGGGACAGGCGGGAAGAGGCCAATTGGTAGGTATTGCCAGATCCAAATTGGAAATGGTGGTGGCTTGTAGAGGGTGGTAGCAGGGGAGATAGTGGAAAGGGAAGGGGGTATTTTTGGGATCAAGCAGCAGGATTGGCTGATGGAGTGAATGTTGGAGGAGGGGGTGAATGAGAGAGGATGACTCCTGGGATTTTGGCTGGAGTAAGTAATAGTTTTGTAGCCCAAATGCTTAAAAGATTGGACTCTGTTGTCTCTGTTCCTCAGCTCACCACATAGGATCCTGGCATCCACTGTGCTAGTGCAGTAATCAACTCGGTAATTGTTCCATATGGTGTCTCCACTGCCCTCTAATTGCAAATCTAAGTGACTTGGGTTCAGTCCCTGTCCTACTTGACAAGATAGCCTGTGGCATCATTGACTATACCATCTTATTTAAAACAAAACAAGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAATGTTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCAAACCTGGCAAACAGAGCGAGACTCCGATCTCAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAAATAATAAAATAAAACAAGCAACCTATTATATACCCACAAAAATTAAAAATACAAAAAGAAGATGCAAAAGAAAAAAACAGGTTTACTCTCTTAGCAAATTTCAGGCATATAATACATTATTATAGTGGCCATGCTGTAAAAAAATAAAAATAAAAAATAAAAACAAGCCTTGACCCCCAAATGTAAAAAGAATACAGGCTTTTTAAGAAAACTTGGAAAAGATAGAAGAGCCCAAAGAATAAACATTTATATTACCCATAACCCCACTATG
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AAACTCCATCTCAAAAAAAAAACCTGTCCACAGAAAAATGTTAAGTATAATCTACAGTTAAATACATGCATGGCTGTGAACAGGGTTCAATGTGAAAAAGATATATTTGAGTGTGTATCGTTCCCTTGGTTTGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCAATAGATATGACTTGGGTGGGAGAGGGAAAGGCATGGATAAGTGACCCAATGAAAGAGATGTAATATGAGAGTTGTGCATTTTTGTCTAATAAGCATTTTCATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGATCCTAAAACCAAGGTGATGCAAGAAGAAATTTTTGGACCAATTCTTCCAATAGTGCCTGTGAAAAATGTAGATGAGGCCATAAATTTCATAAATGAACGTGAAAAGCCTCTGGCTCTTTATGTATTTTCGCATAACCATAAGGTAAGCTTTAGAGAGAACAGCTAGTTAGCATAAGCAACTGTCAAGAGTCATGTTCCTTCTTTGCTGTAAAACAATGCAAAAAACAATGTGAAACAATGATGGTTTCTTTTGTGTCATGTCAGAGTCCATCCACTAAGTGAGGTTGTGTTCCGAGGTTGCTGTCTTGGTTAATGAGACTCTGGGGTTATCACAGCATCCATTCCCCTCCTCCCTCGGGTTAGATCTGAGTCTGCAGGGTTGAGTGTCACAAGGTTTTTGATTCACAAACATCTCCTGTATAATTGGAAGACTTATATGTGCCAGCATTAAATGCTTTTCTGATGTTAATCCACAGGGCATTGCTGAATAACAGCCTGCACAAAATGGCATTCACACCCACTGTGTGGGACAAAGACCCCGACACTGTCACATAAATGGTTGTGATATGATGGATTTTAGTTTCTAACATGACGCTAGCTTCTTGTTAGAGTGGTGGAACTGCATCACCTGGTTGAGCAGTTCTGCCACTTTCTGCATGGCTCACTCATTCATGTCACTAGGTGACCAGCCGCTACTAAGAGACCATGGCCCAAATGTTTTCTGGAGAGCTTCTGATGGTAATGTATAGATAGTCATGTGACAGCTTTTGGAGCTTGTGAGACTATTGAGATACAGATAGCTACAGGTATTTGAAGTGAGACCAAATGTGTGGGGCTCAGTAAAGACTGGGTTATTAACAAAACAATGGTTTGACATTTAAAACCATGGATAATGTGGGCAGGAAGGAACCCTGAAGCCGAAAGTAGGCTGGCCAGGGTATAAGTCAGGTGTGGAGCACTTCCCAGCAGTGGGTCACCCGAGGTCACTATAGTCCAGACTTGACGTTTGCCATGAACAATTGTCAAGGGCTTGCTGGCACCCAAGGGTAAATGACGTTTACTAGTCAAGTGTTCTTGTGCTTTTCTGAGCCTTAGGCCAAACAACCATTTATTTCTTAAAAAATAGGATGCTAAATCTAAAGTCTTAAATATTTTTACATTTCATAAAGACTAAATAATACCTATTAATCATGTGTTATAATTTAAAGCAGAGATAAGAAAGAAATAATAACAGTTTTTAAAGCTGGAATATAGTCTAAGCTGTCCCCTTTTAAAGAGTCTTTTGCTGCTGTGTTGGGGAGTACAACTCCAGGTTGTGGCTGAGTAGGCCCAGAGGTTTGGAGCTGCCTCCTTTTGTGCACTAGATGTGTGTCTGAGAAGTTGGGTATCAGTCACTTTGCTAAATTAACCAGTTGAGATTGTTTGTCTATCTGGCATGGTGTCCCCAAACTCGAGAATTTTCACTGACACAAAGCCAGAATGTGCATGCTTTGAGCACATAACTGAGCACACAGCCCTCTGTGTGGTGGGGCCATGAGTGTTCCCTAAGGGGCAACTTCACTGACCTGGACACCTTTGGTCTGTCCTCAGCTCATCAAACGGATGATTGATGAGACATCCAGTGGAGGTGTCACAGGCAATGACGTCATTATGCACTTCACGCTCAACTCTTTCCCATTTGGAGAAGTGGGTGAGTCTTATTTTCTCCTGCTTGTAGTAGATATTTCAAAAGCACCACCATTTCATGAGTGGATTGTATGGGCTGCTGAAATAGCCAGCTGTTGCGTACCCTGATTGTCCTCTCCTGAGGGAGACCTTTTCCTGGTCACCCAGTTGACTGGTTTTCCTGCTTCCCCACCCACCCCTCCAGCATAGGGCAAATGTCTTGTCACTCTCTTTCTGTCAGCAGCACTGACTGACCACAGCTTTGTTCACTTCGTTGATTTTGTTATCCTGCCACATTTAGGAGATTTGGGAACCAAGAATCAGGTCTCAAATTAATTAAGAAGATCTCTCTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTTTAATGAAGTAGCAAATGAAAGGTTCGGAATACCAGGGACAGAAGGTAGAGGGGTTTTCTAATGTGCCTTTGTTTTCTGCTCAGTTCTTACCTGCATTGTTCCCCAGCCCTTTGTTGGGAGGAGCAGCCTCTCCTTGAATTGTTTTGTGATTTGAGTAAAACGGGACTCCCCCTGTTCTAGAGAGGATGGGCAGAAAGAAATTCATTCCAAGTGAAGCTTTGTGGACATAGCCTGATCCTTGCTTTTCCCTTTAGAACATGACCTGCCTGCCTCTCCCACATGTGAGATGACTGACTCAGCTTTTTATTTCTCCTTTGGGACCTAGGCTAGGTGGGCTTTTCTACTCTCTACTAGAGCTATTACAAAATAGCCGATATGTAAACATTCTCATAACAAAAACCCAACCAGAAAAGCCACTGTCTTAAAGCCCTGTTCTATCCTCTCCCTTTGTAATACCGTCCTAAGTCAGTTGCTCCATGGGATGCGATGGCCCAGTTTGGCAGGACCATCTGTTCCTGGTTAAGGAAACCTTGTCCTATGACCAAGGAGCCTTGACCTATATAGCCACAGGTCCTTGTCTAGGAGGTAAACATATTGCCAGCACCCAGCACAGTGACTGACATGAGTGAGGGACAGGCGGGAAGAGGCCAATTGGTAGGTATTGCCAGATCCAAATTGGAAATGGTGGTGGCTTGTAGAGGGTGGTAGCAGGGGAGATAGTGGAAAGGGAAGGGGGTATTTTTGGGATCAAGCAGCAGGATTGGCTGATGGAGTGAATGTTGGAGGAGGGGGTGAATGAGAGAGGATGACTCCTGGGATTTTGGCTGGAGTAAGTAATAGTTTTGTAGCCCAAATGCTTAAAAGATTGGACTCTGTTGTCTCTGTTCCTCAGCTCACCACATAGGATCCTGGCATCCACTGTGCTAGTGCAGTAATCAACTCGGTAATTGTTCCATATGGTGTCTCCACTGCCCTCTAATTGCAAATCTAAGTGACTTGGGTTCAGTCCCTGTCCTACTTGACAAGATAGCCTGTGGCATCATTGACTATACCATCTTATTTAAAACAAAACAAGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAATGTTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCAAACCTGGCAAACAGAGCGAGACTCCGATCTCAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAAATAATAAAATAAAACAAGCAACCTATTATATACCCACAAAAATTAAAAATACAAAAAGAAGATGCAAAAGAAAAAAACAGGTTTACTCTCTTAGCAAATTTCAGGCATATAATACATTATTATAGTGGCCATGCTGTAAAAAAATAAAAATAAAAAATAAAAACAAGCCTTGACCCCCAAATGTAAAAAGAATACAGGCTTTTTAAGAAAACTTGGAAAAGATAGAAGAGCCCAAAGAATAAACATTTATATTACCCATAACCCCACTATG
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Task1_train_23881
|
This is a variant in VMA12 (vacuolar ATPase assembly factor VMA12), located on Chromosome 17. Is this mutation a likely cause of disease or not?
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Pathogenic; TMEM199-CDG
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GATTCTGGAATGGCACCAAACATCAAGGTGGAATGAATGGAACACCATACCATGCAGGCCTGTGACCTAATCTGACTTTTTTCAGAAGCAGAGCACTCTATGAAAATGAAAGATGACCCAGCCCAATACTCACCTGCCCGGTCTCATATTTTCCATTCTGTTTTGGCACCTCAAACACACCAACTGTCTCCAACACTTTGCCCTCTGGTCGGTTTCTGAGTAGGAAGGAAAAGAACAAGCAACAGAAAAGCTGAGAAGGTAATGGTAGTTATCCATAAGAAAAAGCTCCTAGGATACTGAGGGGCCAGGGCGATGACAGCAGAGAAGGGTTTGGGGTAGTGGGACCAGCTGGAGCAGGAAAGGCTTTCCTCCTCCTTGGTGAAAACCTCCACAGTCTCCCAGTGTTAGATGTGACCGCTCCCATACTACTGTCTTCTCTCTTCACTGGGCATTCTTCATATCATGCCCTCACACTCTGCTCAAATGTACCCCTGCCCTTGTTTCTTCCCTAACCCACCCTCCTGACCTCCCACAGCACTTTAACTGTCTTGCTCACTTTTTCAATTTTTTTAGAAGGGGAGTATCTTTTTTTCTTCTTTTCTTACATTTTCTATATCACAAGTCATCAAACAATATCCTGCTCCCTTTACATTTCAGTTGTGTCCATGTCTTATCTTTATTAAATACTGTAAATTCCCTGGGAGCAATGCCTGAGTCTGATTAGCTGGTACTGCCCCCTCAGAGCCTAGTGTACAAGAGGTGCTCAAAAAATATTTGTCCTGTATTATAATTCCATGTCCATCTCCCCCTCTAACCTGTAGCCCTTACATTGCCCTTGAAAAGCTTAAACATCTCTAGATTTCCTACGGCACATCGCTCTCTCAATACCGTTTTTGTTCATATTCTCACAGGGGTCTTAAATTGCAAATAGCTATCATCTCTCCCCAATGTTCAGTGTCTAATATCAGCCACTAAAATGTCAGTCACCACTCTGAACAGGGCTGCTCTTTCTAGGGGCCCTTCAAATAAAGGCTGTTTTTACTGTTTTGAAGATGTGAACTTTATGCTTCCTCCCACTGATCCACCAGCCCATTTGATCCGCCTGTCCCATCCGTGGAAACAGTTTCCACACCATCCCCATGGCCTCAAACCCCCTTCCCCAAGTCACAGATAGAAAATCGATCTCCCCAAAGTCACTTGGAAACCTGGGGCCTACGAGGGTCCACACCCAAGAGTCTCGTTTCCCACCTCTAGCATCTTTCTGAGGCAGACCTTCACCAAATCCAAAGGCTGAGGGTTCAAGCCAATGCCCTAGGGCTGAATTAAAAAGCTTCCCTCTGACATCGGTGCTGGGGACCCCAGCCGGGGAAGTAGGATTCACTTGGGGAGGGTAACCTGTTCCCCCCCAGGGCCAGCCCTGTACAACCAGGGCTCTGGGCCGCGCTGGCTTCCCTGCTCCTGGCACATGTCCCAGACAGCGCAGGTCGGCTCCCTGCTCGGGACCCTCTCCCGGGTCAAACTCCAGTCACCCTCAGCAGGCCCGGGCCCCTGGCCTCCGCACTGGCTAGGAACACGCTCTCTGGGCTCCAGGCCCAGTTCCTCGCGCCCCCTGGCTCCGTCCCTCACCGGGACGAGAGGTGCCTCCGCGTCGTCGTGGTCGACGCTGGCGAGAAGGCTCCAGCTCCGGCCGCCGCACAGAGCGGCCTTGGCCACCGGGCCCCAGTCAGCGACCGGGACCACCAGCGGCTGCCCACGGCCAGGGCCCGCCGGGCTGTACAGGCTGCCATGTCCCGCCCGAGCGCCCGCCCGGCTGCTGACACAGAGCCCGACCCGCGGCCGGGCGGCGTTCCGCCCCAGTCCCACACTGCCCCGCGCGGCGTCCCGGCCCTCTTGGCCCGCCTGGTCCCACCCCGGAGCTCAGAGCAACTTCCGGTGCGCTTAGCGTTACTTCCGGCGCGCGGCGGGCGGAAGTCCGGGTTGGGGTCACCTGACCGGAGAGCCGGCTAGATATGGCGTCCTCTTTGCTTGCGGGCGAGCGATTGGTGCGTGCTTTGGGCCCCGGCGGGGAGCTGGAGCCAGAGCGGCTACCCCGAAAGCTGCGGGCCGAGCTTGAGGCCGCGCTGGGGAAGAAGCACAAGGGCGGTGATAGCTCCAGTGGCCCCCAACGCTTGGTTTCTTTCCGTCTCATCCGGGATCTGCACCAGCATCTGAGAGAAAGGGGTGAGCCCCAGTCTCCAGTCCGGGGTCCCCTCCTTGTGTCCAGATCGATTCCCTCCTGAGGTCTTTTCCCATCATTCCCCTTCTTCTACGGAGCACTCATCTAGACAAGTCAAGAGTCACTCCATAAATCCCAGGGCCACCCACTTTCTTAACTCCCATGGGAATTTCTCGTGGATGACAAATTTGCTTGTGCAGTTTCTGCTCTTTTGAGAGCCCCCTCTTCACTTCCAGGCACACCTAGGCCCAATTCACCCTTGAGAAAGTCTAGGTTTTTACCAAATACAAATATCACAGGTTTTGTCTCTTCTTTTTCTCCACTTTAGGAATCAGCTTAGCATAGTGAGCTTGTAGGAATCCGGATTTCTTTCCACCTCAAAAGCAAGAGTGGTGAAATCTGATACTTTGTTTTGTTTGTTTGTTTTTTTAATATAGGATGGCAAAAGCTGTGTTGAAAGATCTGGCCTGAGAGTAGCATGTGAGTTCCAGTCCTAGCTCTGTCACTAATCCTTTGAAGGAGTCATTTCTCCTCGCTGGGCCTCAGTTCCCTTATGTGTAAAGGGAAGGAACAGGACAAACTAGCACATAAGGTATTTTGCCAGAAGTAACATAGACCAGCCAGAAGTGCAAAGGGTAGACTGCTCAATTATTAGAACTAGAAAGGACCTTAGAAAGAGATTGCCTAGTATTAGTGTCCTCTGAGCATTTAGCATCACTATGACCTAAACTTATTTAGGGAAGAGCTGTTGTGGCCACAGAACTGATCTAACCCAAAGGCACAAGTAAATGGCTTACTTGTTAGTTATAACACTGGCAGGATAATTGAGAGCTGACAGCTAAAGTCACCTGCGCAGCACTGGGAGATACCTACATGGAATTATCCAAAATTCTTTTCAATTGAAAATGATCCTGGAAATGGATTAATGTAGAGATGGCCCTGTTTTATTTTGGTAGAAAGAAGGGCTACACCCCTCTTGATCTTAACCCTTCAACCTCAGCTCGTGGATCATTGTGTTTGTGAAACCTTTTCTTCTCAGATTCCAAACTATACCTCCATGAGCTCCTAGAAGGCAGTGAAATCTATCTCCCAGAGGTTGTGAAGCCTCCACGGGTATGTAAGGGATATGTTTGTGAGAGTGGTTATTGACTGAGTTGGGCTTATCCATGATACACTGAACTTATAAATCAACTTTTAGGCTTGAAAAATTGTTTTTGAAATCTTTGGGATCTGGGGGAGCCAGATATTGTCCTCCCCATCAGCTGTTTGGAAAATTGAGATCAAAAAAAAAAAAAACAGTTTCAAAGCACTGGAGTTACGACTAGTATGTGGGTCTCCTGATACCTTTAGCAGTGCTTTACCCCTGGAACCAATGATTGTGATGTGCTTTCTAACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAGCCCCTCAGAGTAGGGCCCTGCAGTGGAAGAAGATACAGAGTTTAGAAAAAACATGGAAACTTGGTTTCTATACTGTTCAGGGACCATAGGAAGTCTGCATACAAACAACACAGTTCCCATCTCATTCACTGAGACTCTGGGCTGAGATGGTGACCAAGTTTTAAACGTCATAGAAGTGGGAGTTAGCCGGGCACGGCGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTAGGTGGATCACTTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCGTCTTTACAAAAAATACAAAACTT
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GATTCTGGAATGGCACCAAACATCAAGGTGGAATGAATGGAACACCATACCATGCAGGCCTGTGACCTAATCTGACTTTTTTCAGAAGCAGAGCACTCTATGAAAATGAAAGATGACCCAGCCCAATACTCACCTGCCCGGTCTCATATTTTCCATTCTGTTTTGGCACCTCAAACACACCAACTGTCTCCAACACTTTGCCCTCTGGTCGGTTTCTGAGTAGGAAGGAAAAGAACAAGCAACAGAAAAGCTGAGAAGGTAATGGTAGTTATCCATAAGAAAAAGCTCCTAGGATACTGAGGGGCCAGGGCGATGACAGCAGAGAAGGGTTTGGGGTAGTGGGACCAGCTGGAGCAGGAAAGGCTTTCCTCCTCCTTGGTGAAAACCTCCACAGTCTCCCAGTGTTAGATGTGACCGCTCCCATACTACTGTCTTCTCTCTTCACTGGGCATTCTTCATATCATGCCCTCACACTCTGCTCAAATGTACCCCTGCCCTTGTTTCTTCCCTAACCCACCCTCCTGACCTCCCACAGCACTTTAACTGTCTTGCTCACTTTTTCAATTTTTTTAGAAGGGGAGTATCTTTTTTTCTTCTTTTCTTACATTTTCTATATCACAAGTCATCAAACAATATCCTGCTCCCTTTACATTTCAGTTGTGTCCATGTCTTATCTTTATTAAATACTGTAAATTCCCTGGGAGCAATGCCTGAGTCTGATTAGCTGGTACTGCCCCCTCAGAGCCTAGTGTACAAGAGGTGCTCAAAAAATATTTGTCCTGTATTATAATTCCATGTCCATCTCCCCCTCTAACCTGTAGCCCTTACATTGCCCTTGAAAAGCTTAAACATCTCTAGATTTCCTACGGCACATCGCTCTCTCAATACCGTTTTTGTTCATATTCTCACAGGGGTCTTAAATTGCAAATAGCTATCATCTCTCCCCAATGTTCAGTGTCTAATATCAGCCACTAAAATGTCAGTCACCACTCTGAACAGGGCTGCTCTTTCTAGGGGCCCTTCAAATAAAGGCTGTTTTTACTGTTTTGAAGATGTGAACTTTATGCTTCCTCCCACTGATCCACCAGCCCATTTGATCCGCCTGTCCCATCCGTGGAAACAGTTTCCACACCATCCCCATGGCCTCAAACCCCCTTCCCCAAGTCACAGATAGAAAATCGATCTCCCCAAAGTCACTTGGAAACCTGGGGCCTACGAGGGTCCACACCCAAGAGTCTCGTTTCCCACCTCTAGCATCTTTCTGAGGCAGACCTTCACCAAATCCAAAGGCTGAGGGTTCAAGCCAATGCCCTAGGGCTGAATTAAAAAGCTTCCCTCTGACATCGGTGCTGGGGACCCCAGCCGGGGAAGTAGGATTCACTTGGGGAGGGTAACCTGTTCCCCCCCAGGGCCAGCCCTGTACAACCAGGGCTCTGGGCCGCGCTGGCTTCCCTGCTCCTGGCACATGTCCCAGACAGCGCAGGTCGGCTCCCTGCTCGGGACCCTCTCCCGGGTCAAACTCCAGTCACCCTCAGCAGGCCCGGGCCCCTGGCCTCCGCACTGGCTAGGAACACGCTCTCTGGGCTCCAGGCCCAGTTCCTCGCGCCCCCTGGCTCCGTCCCTCACCGGGACGAGAGGTGCCTCCGCGTCGTCGTGGTCGACGCTGGCGAGAAGGCTCCAGCTCCGGCCGCCGCACAGAGCGGCCTTGGCCACCGGGCCCCAGTCAGCGACCGGGACCACCAGCGGCTGCCCACGGCCAGGGCCCGCCGGGCTGTACAGGCTGCCATGTCCCGCCCGAGCGCCCGCCCGGCTGCTGACACAGAGCCCGACCCGCGGCCGGGCGGCGTTCCGCCCCAGTCCCACACTGCCCCGCGCGGCGTCCCGGCCCTCTTGGCCCGCCTGGTCCCACCCCGGAGCTCAGAGCAACTTCCGGTGCGCTTAGCGTTACTTCCGGCGCGCGGCGGGCGGAAGTCCGGGTTGGGGTCACCTGACCGGAGAGCCGGCTAGATATGGCGTCCTCTTTGCTTGCGGGCGAGCGATTGGTGCGTCCTTTGGGCCCCGGCGGGGAGCTGGAGCCAGAGCGGCTACCCCGAAAGCTGCGGGCCGAGCTTGAGGCCGCGCTGGGGAAGAAGCACAAGGGCGGTGATAGCTCCAGTGGCCCCCAACGCTTGGTTTCTTTCCGTCTCATCCGGGATCTGCACCAGCATCTGAGAGAAAGGGGTGAGCCCCAGTCTCCAGTCCGGGGTCCCCTCCTTGTGTCCAGATCGATTCCCTCCTGAGGTCTTTTCCCATCATTCCCCTTCTTCTACGGAGCACTCATCTAGACAAGTCAAGAGTCACTCCATAAATCCCAGGGCCACCCACTTTCTTAACTCCCATGGGAATTTCTCGTGGATGACAAATTTGCTTGTGCAGTTTCTGCTCTTTTGAGAGCCCCCTCTTCACTTCCAGGCACACCTAGGCCCAATTCACCCTTGAGAAAGTCTAGGTTTTTACCAAATACAAATATCACAGGTTTTGTCTCTTCTTTTTCTCCACTTTAGGAATCAGCTTAGCATAGTGAGCTTGTAGGAATCCGGATTTCTTTCCACCTCAAAAGCAAGAGTGGTGAAATCTGATACTTTGTTTTGTTTGTTTGTTTTTTTAATATAGGATGGCAAAAGCTGTGTTGAAAGATCTGGCCTGAGAGTAGCATGTGAGTTCCAGTCCTAGCTCTGTCACTAATCCTTTGAAGGAGTCATTTCTCCTCGCTGGGCCTCAGTTCCCTTATGTGTAAAGGGAAGGAACAGGACAAACTAGCACATAAGGTATTTTGCCAGAAGTAACATAGACCAGCCAGAAGTGCAAAGGGTAGACTGCTCAATTATTAGAACTAGAAAGGACCTTAGAAAGAGATTGCCTAGTATTAGTGTCCTCTGAGCATTTAGCATCACTATGACCTAAACTTATTTAGGGAAGAGCTGTTGTGGCCACAGAACTGATCTAACCCAAAGGCACAAGTAAATGGCTTACTTGTTAGTTATAACACTGGCAGGATAATTGAGAGCTGACAGCTAAAGTCACCTGCGCAGCACTGGGAGATACCTACATGGAATTATCCAAAATTCTTTTCAATTGAAAATGATCCTGGAAATGGATTAATGTAGAGATGGCCCTGTTTTATTTTGGTAGAAAGAAGGGCTACACCCCTCTTGATCTTAACCCTTCAACCTCAGCTCGTGGATCATTGTGTTTGTGAAACCTTTTCTTCTCAGATTCCAAACTATACCTCCATGAGCTCCTAGAAGGCAGTGAAATCTATCTCCCAGAGGTTGTGAAGCCTCCACGGGTATGTAAGGGATATGTTTGTGAGAGTGGTTATTGACTGAGTTGGGCTTATCCATGATACACTGAACTTATAAATCAACTTTTAGGCTTGAAAAATTGTTTTTGAAATCTTTGGGATCTGGGGGAGCCAGATATTGTCCTCCCCATCAGCTGTTTGGAAAATTGAGATCAAAAAAAAAAAAAACAGTTTCAAAGCACTGGAGTTACGACTAGTATGTGGGTCTCCTGATACCTTTAGCAGTGCTTTACCCCTGGAACCAATGATTGTGATGTGCTTTCTAACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAGCCCCTCAGAGTAGGGCCCTGCAGTGGAAGAAGATACAGAGTTTAGAAAAAACATGGAAACTTGGTTTCTATACTGTTCAGGGACCATAGGAAGTCTGCATACAAACAACACAGTTCCCATCTCATTCACTGAGACTCTGGGCTGAGATGGTGACCAAGTTTTAAACGTCATAGAAGTGGGAGTTAGCCGGGCACGGCGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTAGGTGGATCACTTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCGTCTTTACAAAAAATACAAAACTT
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Task1_train_23882
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A variant affecting Chromosome 17, within the gene VMA12 (vacuolar ATPase assembly factor VMA12), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; TMEM199-related disorder
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TGCAGGCCTGTGACCTAATCTGACTTTTTTCAGAAGCAGAGCACTCTATGAAAATGAAAGATGACCCAGCCCAATACTCACCTGCCCGGTCTCATATTTTCCATTCTGTTTTGGCACCTCAAACACACCAACTGTCTCCAACACTTTGCCCTCTGGTCGGTTTCTGAGTAGGAAGGAAAAGAACAAGCAACAGAAAAGCTGAGAAGGTAATGGTAGTTATCCATAAGAAAAAGCTCCTAGGATACTGAGGGGCCAGGGCGATGACAGCAGAGAAGGGTTTGGGGTAGTGGGACCAGCTGGAGCAGGAAAGGCTTTCCTCCTCCTTGGTGAAAACCTCCACAGTCTCCCAGTGTTAGATGTGACCGCTCCCATACTACTGTCTTCTCTCTTCACTGGGCATTCTTCATATCATGCCCTCACACTCTGCTCAAATGTACCCCTGCCCTTGTTTCTTCCCTAACCCACCCTCCTGACCTCCCACAGCACTTTAACTGTCTTGCTCACTTTTTCAATTTTTTTAGAAGGGGAGTATCTTTTTTTCTTCTTTTCTTACATTTTCTATATCACAAGTCATCAAACAATATCCTGCTCCCTTTACATTTCAGTTGTGTCCATGTCTTATCTTTATTAAATACTGTAAATTCCCTGGGAGCAATGCCTGAGTCTGATTAGCTGGTACTGCCCCCTCAGAGCCTAGTGTACAAGAGGTGCTCAAAAAATATTTGTCCTGTATTATAATTCCATGTCCATCTCCCCCTCTAACCTGTAGCCCTTACATTGCCCTTGAAAAGCTTAAACATCTCTAGATTTCCTACGGCACATCGCTCTCTCAATACCGTTTTTGTTCATATTCTCACAGGGGTCTTAAATTGCAAATAGCTATCATCTCTCCCCAATGTTCAGTGTCTAATATCAGCCACTAAAATGTCAGTCACCACTCTGAACAGGGCTGCTCTTTCTAGGGGCCCTTCAAATAAAGGCTGTTTTTACTGTTTTGAAGATGTGAACTTTATGCTTCCTCCCACTGATCCACCAGCCCATTTGATCCGCCTGTCCCATCCGTGGAAACAGTTTCCACACCATCCCCATGGCCTCAAACCCCCTTCCCCAAGTCACAGATAGAAAATCGATCTCCCCAAAGTCACTTGGAAACCTGGGGCCTACGAGGGTCCACACCCAAGAGTCTCGTTTCCCACCTCTAGCATCTTTCTGAGGCAGACCTTCACCAAATCCAAAGGCTGAGGGTTCAAGCCAATGCCCTAGGGCTGAATTAAAAAGCTTCCCTCTGACATCGGTGCTGGGGACCCCAGCCGGGGAAGTAGGATTCACTTGGGGAGGGTAACCTGTTCCCCCCCAGGGCCAGCCCTGTACAACCAGGGCTCTGGGCCGCGCTGGCTTCCCTGCTCCTGGCACATGTCCCAGACAGCGCAGGTCGGCTCCCTGCTCGGGACCCTCTCCCGGGTCAAACTCCAGTCACCCTCAGCAGGCCCGGGCCCCTGGCCTCCGCACTGGCTAGGAACACGCTCTCTGGGCTCCAGGCCCAGTTCCTCGCGCCCCCTGGCTCCGTCCCTCACCGGGACGAGAGGTGCCTCCGCGTCGTCGTGGTCGACGCTGGCGAGAAGGCTCCAGCTCCGGCCGCCGCACAGAGCGGCCTTGGCCACCGGGCCCCAGTCAGCGACCGGGACCACCAGCGGCTGCCCACGGCCAGGGCCCGCCGGGCTGTACAGGCTGCCATGTCCCGCCCGAGCGCCCGCCCGGCTGCTGACACAGAGCCCGACCCGCGGCCGGGCGGCGTTCCGCCCCAGTCCCACACTGCCCCGCGCGGCGTCCCGGCCCTCTTGGCCCGCCTGGTCCCACCCCGGAGCTCAGAGCAACTTCCGGTGCGCTTAGCGTTACTTCCGGCGCGCGGCGGGCGGAAGTCCGGGTTGGGGTCACCTGACCGGAGAGCCGGCTAGATATGGCGTCCTCTTTGCTTGCGGGCGAGCGATTGGTGCGTGCTTTGGGCCCCGGCGGGGAGCTGGAGCCAGAGCGGCTACCCCGAAAGCTGCGGGCCGAGCTTGAGGCCGCGCTGGGGAAGAAGCACAAGGGCGGTGATAGCTCCAGTGGCCCCCAACGCTTGGTTTCTTTCCGTCTCATCCGGGATCTGCACCAGCATCTGAGAGAAAGGGGTGAGCCCCAGTCTCCAGTCCGGGGTCCCCTCCTTGTGTCCAGATCGATTCCCTCCTGAGGTCTTTTCCCATCATTCCCCTTCTTCTACGGAGCACTCATCTAGACAAGTCAAGAGTCACTCCATAAATCCCAGGGCCACCCACTTTCTTAACTCCCATGGGAATTTCTCGTGGATGACAAATTTGCTTGTGCAGTTTCTGCTCTTTTGAGAGCCCCCTCTTCACTTCCAGGCACACCTAGGCCCAATTCACCCTTGAGAAAGTCTAGGTTTTTACCAAATACAAATATCACAGGTTTTGTCTCTTCTTTTTCTCCACTTTAGGAATCAGCTTAGCATAGTGAGCTTGTAGGAATCCGGATTTCTTTCCACCTCAAAAGCAAGAGTGGTGAAATCTGATACTTTGTTTTGTTTGTTTGTTTTTTTAATATAGGATGGCAAAAGCTGTGTTGAAAGATCTGGCCTGAGAGTAGCATGTGAGTTCCAGTCCTAGCTCTGTCACTAATCCTTTGAAGGAGTCATTTCTCCTCGCTGGGCCTCAGTTCCCTTATGTGTAAAGGGAAGGAACAGGACAAACTAGCACATAAGGTATTTTGCCAGAAGTAACATAGACCAGCCAGAAGTGCAAAGGGTAGACTGCTCAATTATTAGAACTAGAAAGGACCTTAGAAAGAGATTGCCTAGTATTAGTGTCCTCTGAGCATTTAGCATCACTATGACCTAAACTTATTTAGGGAAGAGCTGTTGTGGCCACAGAACTGATCTAACCCAAAGGCACAAGTAAATGGCTTACTTGTTAGTTATAACACTGGCAGGATAATTGAGAGCTGACAGCTAAAGTCACCTGCGCAGCACTGGGAGATACCTACATGGAATTATCCAAAATTCTTTTCAATTGAAAATGATCCTGGAAATGGATTAATGTAGAGATGGCCCTGTTTTATTTTGGTAGAAAGAAGGGCTACACCCCTCTTGATCTTAACCCTTCAACCTCAGCTCGTGGATCATTGTGTTTGTGAAACCTTTTCTTCTCAGATTCCAAACTATACCTCCATGAGCTCCTAGAAGGCAGTGAAATCTATCTCCCAGAGGTTGTGAAGCCTCCACGGGTATGTAAGGGATATGTTTGTGAGAGTGGTTATTGACTGAGTTGGGCTTATCCATGATACACTGAACTTATAAATCAACTTTTAGGCTTGAAAAATTGTTTTTGAAATCTTTGGGATCTGGGGGAGCCAGATATTGTCCTCCCCATCAGCTGTTTGGAAAATTGAGATCAAAAAAAAAAAAAACAGTTTCAAAGCACTGGAGTTACGACTAGTATGTGGGTCTCCTGATACCTTTAGCAGTGCTTTACCCCTGGAACCAATGATTGTGATGTGCTTTCTAACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAGCCCCTCAGAGTAGGGCCCTGCAGTGGAAGAAGATACAGAGTTTAGAAAAAACATGGAAACTTGGTTTCTATACTGTTCAGGGACCATAGGAAGTCTGCATACAAACAACACAGTTCCCATCTCATTCACTGAGACTCTGGGCTGAGATGGTGACCAAGTTTTAAACGTCATAGAAGTGGGAGTTAGCCGGGCACGGCGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTAGGTGGATCACTTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCGTCTTTACAAAAAATACAAAACTTAGCCTGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGAGAGGCTGAGG
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TGCAGGCCTGTGACCTAATCTGACTTTTTTCAGAAGCAGAGCACTCTATGAAAATGAAAGATGACCCAGCCCAATACTCACCTGCCCGGTCTCATATTTTCCATTCTGTTTTGGCACCTCAAACACACCAACTGTCTCCAACACTTTGCCCTCTGGTCGGTTTCTGAGTAGGAAGGAAAAGAACAAGCAACAGAAAAGCTGAGAAGGTAATGGTAGTTATCCATAAGAAAAAGCTCCTAGGATACTGAGGGGCCAGGGCGATGACAGCAGAGAAGGGTTTGGGGTAGTGGGACCAGCTGGAGCAGGAAAGGCTTTCCTCCTCCTTGGTGAAAACCTCCACAGTCTCCCAGTGTTAGATGTGACCGCTCCCATACTACTGTCTTCTCTCTTCACTGGGCATTCTTCATATCATGCCCTCACACTCTGCTCAAATGTACCCCTGCCCTTGTTTCTTCCCTAACCCACCCTCCTGACCTCCCACAGCACTTTAACTGTCTTGCTCACTTTTTCAATTTTTTTAGAAGGGGAGTATCTTTTTTTCTTCTTTTCTTACATTTTCTATATCACAAGTCATCAAACAATATCCTGCTCCCTTTACATTTCAGTTGTGTCCATGTCTTATCTTTATTAAATACTGTAAATTCCCTGGGAGCAATGCCTGAGTCTGATTAGCTGGTACTGCCCCCTCAGAGCCTAGTGTACAAGAGGTGCTCAAAAAATATTTGTCCTGTATTATAATTCCATGTCCATCTCCCCCTCTAACCTGTAGCCCTTACATTGCCCTTGAAAAGCTTAAACATCTCTAGATTTCCTACGGCACATCGCTCTCTCAATACCGTTTTTGTTCATATTCTCACAGGGGTCTTAAATTGCAAATAGCTATCATCTCTCCCCAATGTTCAGTGTCTAATATCAGCCACTAAAATGTCAGTCACCACTCTGAACAGGGCTGCTCTTTCTAGGGGCCCTTCAAATAAAGGCTGTTTTTACTGTTTTGAAGATGTGAACTTTATGCTTCCTCCCACTGATCCACCAGCCCATTTGATCCGCCTGTCCCATCCGTGGAAACAGTTTCCACACCATCCCCATGGCCTCAAACCCCCTTCCCCAAGTCACAGATAGAAAATCGATCTCCCCAAAGTCACTTGGAAACCTGGGGCCTACGAGGGTCCACACCCAAGAGTCTCGTTTCCCACCTCTAGCATCTTTCTGAGGCAGACCTTCACCAAATCCAAAGGCTGAGGGTTCAAGCCAATGCCCTAGGGCTGAATTAAAAAGCTTCCCTCTGACATCGGTGCTGGGGACCCCAGCCGGGGAAGTAGGATTCACTTGGGGAGGGTAACCTGTTCCCCCCCAGGGCCAGCCCTGTACAACCAGGGCTCTGGGCCGCGCTGGCTTCCCTGCTCCTGGCACATGTCCCAGACAGCGCAGGTCGGCTCCCTGCTCGGGACCCTCTCCCGGGTCAAACTCCAGTCACCCTCAGCAGGCCCGGGCCCCTGGCCTCCGCACTGGCTAGGAACACGCTCTCTGGGCTCCAGGCCCAGTTCCTCGCGCCCCCTGGCTCCGTCCCTCACCGGGACGAGAGGTGCCTCCGCGTCGTCGTGGTCGACGCTGGCGAGAAGGCTCCAGCTCCGGCCGCCGCACAGAGCGGCCTTGGCCACCGGGCCCCAGTCAGCGACCGGGACCACCAGCGGCTGCCCACGGCCAGGGCCCGCCGGGCTGTACAGGCTGCCATGTCCCGCCCGAGCGCCCGCCCGGCTGCTGACACAGAGCCCGACCCGCGGCCGGGCGGCGTTCCGCCCCAGTCCCACACTGCCCCGCGCGGCGTCCCGGCCCTCTTGGCCCGCCTGGTCCCACCCCGGAGCTCAGAGCAACTTCCGGTGCGCTTAGCGTTACTTCCGGCGCGCGGCGGGCGGAAGTCCGGGTTGGGGTCACCTGACCGGAGAGCCGGCTAGATATGGCGTCCTCTTTGCTTGCGGGCGAGCGATTGGTGCGTGCTTTGGGCCCCGGCGGGGAGCTGGAGCCAGAGCGGCTACCCCGAAAGCTGCCGGCCGAGCTTGAGGCCGCGCTGGGGAAGAAGCACAAGGGCGGTGATAGCTCCAGTGGCCCCCAACGCTTGGTTTCTTTCCGTCTCATCCGGGATCTGCACCAGCATCTGAGAGAAAGGGGTGAGCCCCAGTCTCCAGTCCGGGGTCCCCTCCTTGTGTCCAGATCGATTCCCTCCTGAGGTCTTTTCCCATCATTCCCCTTCTTCTACGGAGCACTCATCTAGACAAGTCAAGAGTCACTCCATAAATCCCAGGGCCACCCACTTTCTTAACTCCCATGGGAATTTCTCGTGGATGACAAATTTGCTTGTGCAGTTTCTGCTCTTTTGAGAGCCCCCTCTTCACTTCCAGGCACACCTAGGCCCAATTCACCCTTGAGAAAGTCTAGGTTTTTACCAAATACAAATATCACAGGTTTTGTCTCTTCTTTTTCTCCACTTTAGGAATCAGCTTAGCATAGTGAGCTTGTAGGAATCCGGATTTCTTTCCACCTCAAAAGCAAGAGTGGTGAAATCTGATACTTTGTTTTGTTTGTTTGTTTTTTTAATATAGGATGGCAAAAGCTGTGTTGAAAGATCTGGCCTGAGAGTAGCATGTGAGTTCCAGTCCTAGCTCTGTCACTAATCCTTTGAAGGAGTCATTTCTCCTCGCTGGGCCTCAGTTCCCTTATGTGTAAAGGGAAGGAACAGGACAAACTAGCACATAAGGTATTTTGCCAGAAGTAACATAGACCAGCCAGAAGTGCAAAGGGTAGACTGCTCAATTATTAGAACTAGAAAGGACCTTAGAAAGAGATTGCCTAGTATTAGTGTCCTCTGAGCATTTAGCATCACTATGACCTAAACTTATTTAGGGAAGAGCTGTTGTGGCCACAGAACTGATCTAACCCAAAGGCACAAGTAAATGGCTTACTTGTTAGTTATAACACTGGCAGGATAATTGAGAGCTGACAGCTAAAGTCACCTGCGCAGCACTGGGAGATACCTACATGGAATTATCCAAAATTCTTTTCAATTGAAAATGATCCTGGAAATGGATTAATGTAGAGATGGCCCTGTTTTATTTTGGTAGAAAGAAGGGCTACACCCCTCTTGATCTTAACCCTTCAACCTCAGCTCGTGGATCATTGTGTTTGTGAAACCTTTTCTTCTCAGATTCCAAACTATACCTCCATGAGCTCCTAGAAGGCAGTGAAATCTATCTCCCAGAGGTTGTGAAGCCTCCACGGGTATGTAAGGGATATGTTTGTGAGAGTGGTTATTGACTGAGTTGGGCTTATCCATGATACACTGAACTTATAAATCAACTTTTAGGCTTGAAAAATTGTTTTTGAAATCTTTGGGATCTGGGGGAGCCAGATATTGTCCTCCCCATCAGCTGTTTGGAAAATTGAGATCAAAAAAAAAAAAAACAGTTTCAAAGCACTGGAGTTACGACTAGTATGTGGGTCTCCTGATACCTTTAGCAGTGCTTTACCCCTGGAACCAATGATTGTGATGTGCTTTCTAACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAGCCCCTCAGAGTAGGGCCCTGCAGTGGAAGAAGATACAGAGTTTAGAAAAAACATGGAAACTTGGTTTCTATACTGTTCAGGGACCATAGGAAGTCTGCATACAAACAACACAGTTCCCATCTCATTCACTGAGACTCTGGGCTGAGATGGTGACCAAGTTTTAAACGTCATAGAAGTGGGAGTTAGCCGGGCACGGCGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTAGGTGGATCACTTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCGTCTTTACAAAAAATACAAAACTTAGCCTGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGAGAGGCTGAGG
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Task1_train_23883
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This variant lies on Chromosome 17 and affects the gene SLC46A1, SARM1 (solute carrier family 46 member 1| sterile alpha and TIR motif containing 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Congenital defect of folate absorption
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GTCAGCGGGTCAAGCTAGCCTGTGGCCCAGCCACAACTAGCTGACAAAGCTTCCTGGCCTTCCCTTTAACACAGTTCTGCTGCCATAGTTCCATCTATAAAATGGGAATGGAGGGAAATAGGGGAACTGGGAGAGAGAACACAGCCTTGCCAAGCAGCAATGTTAGCCTGATCCTTCCTCCACCTAGCTCGCCATCTCGCCCTTGGAAAATGGCTCCTGGAGGATTAGGCAGCCATCTGCAAGGAGAGGGGCAACCTGGGACAAGACACCCAGAGGGTAAGGATTCCAGGAATGAAGCTGCCATTTCTGGTTGGGAGGAGAAGAGGAAACTTTTAAGAGAAAGGGCTCCATTATGAGCATGGGTTCAGGGCCCTGCATTACCCAATCAGAACAGCCGGGATGAGCAGGAGGCCAGCTCCCAGGAGGAAGGGGAACCCCTTCATAAAGTTCAGAGTGGCTGGGTAGAGTGAGTTGAAGATGCCGGAGGCCGTCAGCATGGCCAGGCTATTCACACAGGCCACAGCAGAAAAGAGAGCACCTGTGAAGAAATAAATACCATACTCTGGAGTCCGAAAGGGCCATATTCCAACTCTGGCACCACCACCTCACAGCTGTGTGACCGGGAGTAGTCACTTAACCTATGTCTCCCCTTCCTCACCAGTAAATCCTGCTACATCATGTACTGTGACAAGGATTCAGTAAGGTCATATGTGGACAGTAGCTGGCACAGAGGGGCTACTAAACAAATGGCTGCTATTAAATCCACATTAAAAGTACATGTGATCTGACAGAACCCAGCACATAAAAGAAAAAAAAAGTACATGTGATATTGTCTGATGAAAGCTTGATGGAAATGGCTTTTTTCTGGTTTATCCTCTTTGGAATCATCTCCTGTTTGGGATTAACTGCTGGTCTGATCAGTTCCAATATTCATAGCGGTGTCACCACTGAATAGCTTCTTATCCTTTGGGTTCCTGTTCCTCCTTCTGCTAAATAAGGATAATACCTATTTCCTAGATTGTGAGCAACATTAAGTTCACATGGAAATCACCCATCACTGGGCCTGGTCCCCTGGAAGTAGCTAGTTAGTAAGGGCTGTTCTTTTCTCCTGTTTCTCTTGACATCTCTGGGCACAGAGAAAGTGCTGGGAAAAAAAGTTTAGGTGAATGAATGAAGACACATGGATTCTGGGGACACCAGAACCCACAGTGGGCTCTGTATGGCACCAGAGTCTCTGTCATCATCAGATCCTCATTCCAGGACAGATGGAAAAAGATGAATGTTTCCAGACTGGGGCATAAAGACCCAGAGGCTGGAGAAGCTGTTCTTTATAGATATACCAGGAGAACCCACAGTTTACAAAATGTGCAACAACCCAACAGAAGTTGAGATTAAATTCTGTCACATCTAGAGGGGTCTGTGATGTCATCAAAAGCAAACCACCCACATCACAGATGAAGAAACAGGCCTGTGGCAGGGCTCGGACTAAAACCCAGATCCTGAGACCAGCTGCTTTTAAACACAGACGTAGGTTTGCATCCTAGCTCCACCATTTACTGAGTAACCTTGGGTGAGCCAATGTAACCCCCTGGGTCTCTGTTTCTTTATCTGTCAACTGTGGAAAATGAAACCCATGTCACAAGGTTGTTCACTTCTGGGCTTGTACACGCTGACCCCAGAGAAACAGGGAACTCTGGCATCACCACACCCATCTTACAGACGGAAAAGCTGAGGTCTGCAGAGAGTAAATCCTCTGCTCTGGTTATCTAGAAAGAACATAATTGTGCTCTGCTGACTGCAAATCCCAACTCTGCGGTTTGAAAATCCAAGGTGGCATGATCCTCTGCCCATTGTGGGCAATTTCACAGAAATGTGTTTGTTTTGGCCACTTACTTCTCCAGGGTGAGAGGGGGGAAGGCAAGCTGTTCCCCCAGCCATGGCTGCCCATCAGCCCGTTTCGGGCAGCACTGGACATGAGGAACCAGACACAGGTGGGTTCTGACACTCACCCTGCTCTGTCTCTCTCACCAGCTTGGAGAGTTTAGCCCGGATGACAGGTGTGATGACTAATGACAGGAAAAGCAACCCATATCCTGTGGAGAAACAAACACTCATCAGGAAAATGGGGCTGGGGAGAGGGGCGTCCAAGGGAAAGGCAGCAGAGCTCCTATCCATACCCCACGTGGGGCTTAGGTTAGACCCAGGAAGAACTTCCTTGATGGTGAGGGTGGGAAGACAGTAGTCAAGGAGGAATGGAGACTGCCCTTGTCTGGGCTTGGCCACCTGCTAGCTCTCATGAATGAATGCTAATTCCCATTGATTGCTTTCTTGTCTGAACCTCTTGTGGTCACAGCAGGCATCACCCACCCACTTGGCACTTAGTAGGGATATGGCAGGGCACAGAAAACAAGCATGGGCTTTGGAGTCAGCCCTGAGTTCAAAACCTGATGCCATTACATATTATCTGTGTGGCCTGGGGTACTTACCCTCTCTGATCCTGACTCCCTGTATGAGGAAGATAATAAGGCCTTCATCACAGGATGGTTCTGAGGCATAGGAGGCTGAATAATGGTGCCCAATGGCATCAGATTCATAGCCCTGGAACCTGTAAATACTACCTTATTTGGAAAATGAGTCTATGCAGGTGTGCAGTTAAGCCTCCTGAGAGAGCAGAGTTATCCTGGATTAGGTTGGGCCCTAAATGCCGTCACACATATCTTTATAAGAGGAAAGCAGACGGAGATTTGGCACCGACAGAATTGAGAAGGCACAAAGAGGAGGAGAGTCAATGTGAGCACAGAGGCAGAGACTGGTGATGGCCGCCCCAAGCCAAGGAATGCCAGCAGCCCCAGAAGCTGGAAGAAATGAGAAACACGTTCTCTCCTGGAGGCTTGCAAGGGAGCACTGCCTGCTGACTGCTTCCATTCAGCCCGGTGGTACTGACTTTGGACTTCTGGCCTCCAGAACTGTGAGAGAATATGTTTCTGTTGTGTTAAGCCCCCAAGTTTGTGGTATGTCATTACAGCAATCTCAGGGAACCAATACATGAGGTAAAAAGGTAACATCTATGAAGAGCATGGCATAGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAA
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GTCAGCGGGTCAAGCTAGCCTGTGGCCCAGCCACAACTAGCTGACAAAGCTTCCTGGCCTTCCCTTTAACACAGTTCTGCTGCCATAGTTCCATCTATAAAATGGGAATGGAGGGAAATAGGGGAACTGGGAGAGAGAACACAGCCTTGCCAAGCAGCAATGTTAGCCTGATCCTTCCTCCACCTAGCTCGCCATCTCGCCCTTGGAAAATGGCTCCTGGAGGATTAGGCAGCCATCTGCAAGGAGAGGGGCAACCTGGGACAAGACACCCAGAGGGTAAGGATTCCAGGAATGAAGCTGCCATTTCTGGTTGGGAGGAGAAGAGGAAACTTTTAAGAGAAAGGGCTCCATTATGAGCATGGGTTCAGGGCCCTGCATTACCCAATCAGAACAGCCGGGATGAGCAGGAGGCCAGCTCCCAGGAGGAAGGGGAACCCCTTCATAAAGTTCAGAGTGGCTGGGTAGAGTGAGTTGAAGATGCCGGAGGCCGTCAGCATGGCCAGGCTATTCACACAGGCCACAGCAGAAAAGAGAGCACCTGTGAAGAAATAAATACCATACTCTGGAGTCCGAAAGGGCCATATTCCAACTCTGGCACCACCACCTCACAGCTGTGTGACCGGGAGTAGTCACTTAACCTATGTCTCCCCTTCCTCACCAGTAAATCCTGCTACATCATGTACTGTGACAAGGATTCAGTAAGGTCATATGTGGACAGTAGCTGGCACAGAGGGGCTACTAAACAAATGGCTGCTATTAAATCCACATTAAAAGTACATGTGATCTGACAGAACCCAGCACATAAAAGAAAAAAAAAGTACATGTGATATTGTCTGATGAAAGCTTGATGGAAATGGCTTTTTTCTGGTTTATCCTCTTTGGAATCATCTCCTGTTTGGGATTAACTGCTGGTCTGATCAGTTCCAATATTCATAGCGGTGTCACCACTGAATAGCTTCTTATCCTTTGGGTTCCTGTTCCTCCTTCTGCTAAATAAGGATAATACCTATTTCCTAGATTGTGAGCAACATTAAGTTCACATGGAAATCACCCATCACTGGGCCTGGTCCCCTGGAAGTAGCTAGTTAGTAAGGGCTGTTCTTTTCTCCTGTTTCTCTTGACATCTCTGGGCACAGAGAAAGTGCTGGGAAAAAAAGTTTAGGTGAATGAATGAAGACACATGGATTCTGGGGACACCAGAACCCACAGTGGGCTCTGTATGGCACCAGAGTCTCTGTCATCATCAGATCCTCATTCCAGGACAGATGGAAAAAGATGAATGTTTCCAGACTGGGGCATAAAGACCCAGAGGCTGGAGAAGCTGTTCTTTATAGATATACCAGGAGAACCCACAGTTTACAAAATGTGCAACAACCCAACAGAAGTTGAGATTAAATTCTGTCACATCTAGAGGGGTCTGTGATGTCATCAAAAGCAAACCACCCACATCACAGATGAAGAAACAGGCCTGTGGCAGGGCTCGGACTAAAACCCAGATCCTGAGACCAGCTGCTTTTAAACACAGACGTAGGTTTGCATCCTAGCTCCACCATTTACTGAGTAACCTTGGGTGAGCCAATGTAACCCCCTGGGTCTCTGTTTCTTTATCTGTCAACTGTGGAAAATGAAACCCATGTCACAAGGTTGTTCACTTCTGGGCTTGTACACGCTGACCCCAGAGAAACAGGGAACTCTGGCATCACCACACCCATCTTACAGACGGAAAAGCTGAGGTCTGCAGAGAGTAAATCCTCTGCTCTGGTTATCTAGAAAGAACATAATTGTGCTCTGCTGACTGCAAATCCCAACTCTGCGGTTTGAAAATCCAAGGTGGCATGATCCTCTGCCCATTGTGGGCAATTTCACAGAAATGTGTTTGTTTTGGCCACTTACTTCTCCAGGGTGAGAGGGGGGAAGGCAAGCTGTTCCCCCAGCCATGGCTGCCCATCAGCCCGTTTCGGGCAGCACTGGACATGAGGAACCAGACACAGGTGGGTTCTGACACTCACCCTGCTCTGTCTCTCTCACCAGCTTGGAGAGTTTAGCCCAGATGACAGGTGTGATGACTAATGACAGGAAAAGCAACCCATATCCTGTGGAGAAACAAACACTCATCAGGAAAATGGGGCTGGGGAGAGGGGCGTCCAAGGGAAAGGCAGCAGAGCTCCTATCCATACCCCACGTGGGGCTTAGGTTAGACCCAGGAAGAACTTCCTTGATGGTGAGGGTGGGAAGACAGTAGTCAAGGAGGAATGGAGACTGCCCTTGTCTGGGCTTGGCCACCTGCTAGCTCTCATGAATGAATGCTAATTCCCATTGATTGCTTTCTTGTCTGAACCTCTTGTGGTCACAGCAGGCATCACCCACCCACTTGGCACTTAGTAGGGATATGGCAGGGCACAGAAAACAAGCATGGGCTTTGGAGTCAGCCCTGAGTTCAAAACCTGATGCCATTACATATTATCTGTGTGGCCTGGGGTACTTACCCTCTCTGATCCTGACTCCCTGTATGAGGAAGATAATAAGGCCTTCATCACAGGATGGTTCTGAGGCATAGGAGGCTGAATAATGGTGCCCAATGGCATCAGATTCATAGCCCTGGAACCTGTAAATACTACCTTATTTGGAAAATGAGTCTATGCAGGTGTGCAGTTAAGCCTCCTGAGAGAGCAGAGTTATCCTGGATTAGGTTGGGCCCTAAATGCCGTCACACATATCTTTATAAGAGGAAAGCAGACGGAGATTTGGCACCGACAGAATTGAGAAGGCACAAAGAGGAGGAGAGTCAATGTGAGCACAGAGGCAGAGACTGGTGATGGCCGCCCCAAGCCAAGGAATGCCAGCAGCCCCAGAAGCTGGAAGAAATGAGAAACACGTTCTCTCCTGGAGGCTTGCAAGGGAGCACTGCCTGCTGACTGCTTCCATTCAGCCCGGTGGTACTGACTTTGGACTTCTGGCCTCCAGAACTGTGAGAGAATATGTTTCTGTTGTGTTAAGCCCCCAAGTTTGTGGTATGTCATTACAGCAATCTCAGGGAACCAATACATGAGGTAAAAAGGTAACATCTATGAAGAGCATGGCATAGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAA
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Task1_train_23884
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A mutation in SLC46A1 (solute carrier family 46 member 1), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Congenital defect of folate absorption
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AAGCATGGGCTTTGGAGTCAGCCCTGAGTTCAAAACCTGATGCCATTACATATTATCTGTGTGGCCTGGGGTACTTACCCTCTCTGATCCTGACTCCCTGTATGAGGAAGATAATAAGGCCTTCATCACAGGATGGTTCTGAGGCATAGGAGGCTGAATAATGGTGCCCAATGGCATCAGATTCATAGCCCTGGAACCTGTAAATACTACCTTATTTGGAAAATGAGTCTATGCAGGTGTGCAGTTAAGCCTCCTGAGAGAGCAGAGTTATCCTGGATTAGGTTGGGCCCTAAATGCCGTCACACATATCTTTATAAGAGGAAAGCAGACGGAGATTTGGCACCGACAGAATTGAGAAGGCACAAAGAGGAGGAGAGTCAATGTGAGCACAGAGGCAGAGACTGGTGATGGCCGCCCCAAGCCAAGGAATGCCAGCAGCCCCAGAAGCTGGAAGAAATGAGAAACACGTTCTCTCCTGGAGGCTTGCAAGGGAGCACTGCCTGCTGACTGCTTCCATTCAGCCCGGTGGTACTGACTTTGGACTTCTGGCCTCCAGAACTGTGAGAGAATATGTTTCTGTTGTGTTAAGCCCCCAAGTTTGTGGTATGTCATTACAGCAATCTCAGGGAACCAATACATGAGGTAAAAAGGTAACATCTATGAAGAGCATGGCATAGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAAAGCAATTAGTGTATGAGCCACACTTTTGTCTTTTGCTCTATATTACTAACAATATTAATGGTTGATAACAGTGGGTTAATTACTTTAGCTACTGAAGGTCTATATTTTCCATGTATCAAAGATGGCATTTTTGAGGGATTTCTTAGTTGTCTGTTCTCCAGTGCAGGCTGGGGGCATAACTATGTTTCCAAAGACACAGGAATGAACCACATCTGGGGGCAGTGAGTGGCCGGCCCCCAGTTCTTACCCAGTGCCTCTGGGACAAGCTGTCCCTGAGCCCACACACTTTACCTGTGAACATGAGAGGCGTGATAGTGGCAAAGGCAAAGACCACCATCCCCAGGATGTTGAAGGCCAGGCCGATCTCAGCTACCCAGGCATCGGCCAGGCAGTACTGCAGGAGCTTCAGGGCCAGCAGGCTGGTGAGGTAGGGGAGATGCTGAGCTGCAGAACCATAGCCGATTAGTTTGGAGTCCCAGCAGAGGGGTGTGCTTAGTTCATAAAGGGTTAAGATGTCCTGGGCCCCAAAGTGCACAGTGATCACCACGAAGATGGCCAGTGAGTAGAGGGCTAAATGTTTCCTGGACTTCTCTGGGGCGGGAGCCACATAGAGCTGGACAATGGATCGGTGGTGACGGAACGTGAAGAGCCGGGTGGACTTTGGCTCCTTTAAGGTCTCACCAAAGCAGAAAGCTGCATAGAGAGTCATGGCTATCAGCAAGGCCAAGGCCAGCCAGAAGGGGTTGGCATAACCCTGGGCCCGGAGCCAGTGGCCCCCGAGGAGGCTTGCCAGCATCCCAGCCACCCCGATGCTGGCTTCCAGCAGGGCCATCCGGAAGGTGCGGCTGCGACTGGAGCTGACATCTGCCACGGACGCAAAGCTAGCAGCCAGAAGGCCACCGAAGTCGCCGAGGAGGGCACAAAGGATGCGACCCAGCACGAAGTAGCCGACGTGGAGCTGCAGCTGCACCACAAAAACGGACACTAGGGCCTGGAGCAGCAGGCCCAGCGAGGCCAGCACTAGCAGCGGGCGGCGGCCCACACTGTCGCTCCAAGCTCCCAGCAGGGTGGACGAGAAGAGCCCCACCAGGAAGCCGCCCACGTTCATGTAGAGGGTCCAGTGGGAGGTAAGGGTCTCCACTTCCTGTAGGGGCACAATGACCAGGGTGCGGTTCCTCACTCTGGGTTCCACAATCCCCAAATCCTCGCCATCCCGGGAGCTACAGGGATGAGGACTTCCTTTGGAGCCCTAAACCTCAGAGAATCTTAGCACAGCTTTCAAAATCTGCCAGTGGAGAGGGGGAAGGACATGGACCAAGGCCCCATTCCCTTTCCTTTCCCCCCCCTTTTGTTAACCTGCAAGGCCAGACTTTAGCTCAGCTTTTCGCATCCCACCCGCTGAGGTTCTCGGTCAGGCCCCTTTGCTCTGGTCCCGCCCACCATCCAAAATGCACCCTCCCTCCAGTTACCCGCCACTACCATTACGCAGGCCCCGCCCCTCCGCTGCCCCCACGCTCCAGACCAGGGCCCTCCACCTGCCAGGCTCCTCGCCGCCCCGCTACCTGCATGGTGGGGTCCGCGCTGCGGTTGCTGCAGCCCCCCCTTTGGCGGGTGCCATTGTAGCCGAGGTCGGCGCTGAAGCGGTGCCACAGATACTGCGTGGTGAGCGGGCCCTGCAGGACCAAGGCAAAGTTGGCCAGGAAGACCAGCGGCTCTACCGGGCCCCGGCACAGCACGGCAGCCGCAGGGCGGGCGCGGGGCTTTTCCGGGGGGCTCGCGCTCCCCTCCATGTGCGTGCGCGGCGGAGCTGTCGCCAGGCGGGCGGCGGGGCGCGCGAGCGACTCGCTGCCTGGGACCAGCGACGCGTGGCGTGGGGCTTGCGCTGTCTGCGCCTGCGCCCGGCGTCCCTCCTTAAATGTCCGGCGGGGAGGGGCCTGTGACCTGAGGCCACCGGACTCTCGCCGCGGGTGCACCTGGCTGGGCGTGGGCCAGCGAGGGGCCCGGCACCCCCAGCCCGCGGGATGACCTCACCTGTAAAGTGTGCGTAGACACCGCCCTGCAGCCCTCCCTCCCGGCCCAGACACACCACAGATAACAAGAATATCAACAATTAACATGTATTGACCACTTACTATGTGCTGGGCACGGTATTAAACCCTTTTTGTGCGTTGGTCTCCCGATAACTCTACAGGCTAGCCAATATTAACCATCGCTATCTACCGCTGAGGAAACGAGGTCATCGGGTACTCAAGGCAGAGCTGGAAGAGCACATGACTCCTGATGCTGCTGATGTTCTGCGCTGTAACAGAGAGGCAGCTGGAGAGGATCGGAGTGGGCTGAGCCCAGCTGCCTGGGTTGGAGCACCTAGGCTCTGCCACTACCTTCGGCATGCCACTTACCACCCTGAG
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AAGCATGGGCTTTGGAGTCAGCCCTGAGTTCAAAACCTGATGCCATTACATATTATCTGTGTGGCCTGGGGTACTTACCCTCTCTGATCCTGACTCCCTGTATGAGGAAGATAATAAGGCCTTCATCACAGGATGGTTCTGAGGCATAGGAGGCTGAATAATGGTGCCCAATGGCATCAGATTCATAGCCCTGGAACCTGTAAATACTACCTTATTTGGAAAATGAGTCTATGCAGGTGTGCAGTTAAGCCTCCTGAGAGAGCAGAGTTATCCTGGATTAGGTTGGGCCCTAAATGCCGTCACACATATCTTTATAAGAGGAAAGCAGACGGAGATTTGGCACCGACAGAATTGAGAAGGCACAAAGAGGAGGAGAGTCAATGTGAGCACAGAGGCAGAGACTGGTGATGGCCGCCCCAAGCCAAGGAATGCCAGCAGCCCCAGAAGCTGGAAGAAATGAGAAACACGTTCTCTCCTGGAGGCTTGCAAGGGAGCACTGCCTGCTGACTGCTTCCATTCAGCCCGGTGGTACTGACTTTGGACTTCTGGCCTCCAGAACTGTGAGAGAATATGTTTCTGTTGTGTTAAGCCCCCAAGTTTGTGGTATGTCATTACAGCAATCTCAGGGAACCAATACATGAGGTAAAAAGGTAACATCTATGAAGAGCATGGCATAGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAAAGCAATTAGTGTATGAGCCACACTTTTGTCTTTTGCTCTATATTACTAACAATATTAATGGTTGATAACAGTGGGTTAATTACTTTAGCTACTGAAGGTCTATATTTTCCATGTATCAAAGATGGCATTTTTGAGGGATTTCTTAGTTGTCTGTTCTCCAGTGCAGGCTGGGGGCATAACTATGTTTCCAAAGACACAGGAATGAACCACATCTGGGGGCAGTGAGTGGCCGGCCCCCAGTTCTTACCCAGTGCCTCTGGGACAAGCTGTCCCTGAGCCCACACACTTTACCTGTGAACATGAGAGGCGTGATAGTGGCAAAGGCAAAGACCACCATCCCCAGGATGTTGAAGGCCAGGCGGATCTCAGCTACCCAGGCATCGGCCAGGCAGTACTGCAGGAGCTTCAGGGCCAGCAGGCTGGTGAGGTAGGGGAGATGCTGAGCTGCAGAACCATAGCCGATTAGTTTGGAGTCCCAGCAGAGGGGTGTGCTTAGTTCATAAAGGGTTAAGATGTCCTGGGCCCCAAAGTGCACAGTGATCACCACGAAGATGGCCAGTGAGTAGAGGGCTAAATGTTTCCTGGACTTCTCTGGGGCGGGAGCCACATAGAGCTGGACAATGGATCGGTGGTGACGGAACGTGAAGAGCCGGGTGGACTTTGGCTCCTTTAAGGTCTCACCAAAGCAGAAAGCTGCATAGAGAGTCATGGCTATCAGCAAGGCCAAGGCCAGCCAGAAGGGGTTGGCATAACCCTGGGCCCGGAGCCAGTGGCCCCCGAGGAGGCTTGCCAGCATCCCAGCCACCCCGATGCTGGCTTCCAGCAGGGCCATCCGGAAGGTGCGGCTGCGACTGGAGCTGACATCTGCCACGGACGCAAAGCTAGCAGCCAGAAGGCCACCGAAGTCGCCGAGGAGGGCACAAAGGATGCGACCCAGCACGAAGTAGCCGACGTGGAGCTGCAGCTGCACCACAAAAACGGACACTAGGGCCTGGAGCAGCAGGCCCAGCGAGGCCAGCACTAGCAGCGGGCGGCGGCCCACACTGTCGCTCCAAGCTCCCAGCAGGGTGGACGAGAAGAGCCCCACCAGGAAGCCGCCCACGTTCATGTAGAGGGTCCAGTGGGAGGTAAGGGTCTCCACTTCCTGTAGGGGCACAATGACCAGGGTGCGGTTCCTCACTCTGGGTTCCACAATCCCCAAATCCTCGCCATCCCGGGAGCTACAGGGATGAGGACTTCCTTTGGAGCCCTAAACCTCAGAGAATCTTAGCACAGCTTTCAAAATCTGCCAGTGGAGAGGGGGAAGGACATGGACCAAGGCCCCATTCCCTTTCCTTTCCCCCCCCTTTTGTTAACCTGCAAGGCCAGACTTTAGCTCAGCTTTTCGCATCCCACCCGCTGAGGTTCTCGGTCAGGCCCCTTTGCTCTGGTCCCGCCCACCATCCAAAATGCACCCTCCCTCCAGTTACCCGCCACTACCATTACGCAGGCCCCGCCCCTCCGCTGCCCCCACGCTCCAGACCAGGGCCCTCCACCTGCCAGGCTCCTCGCCGCCCCGCTACCTGCATGGTGGGGTCCGCGCTGCGGTTGCTGCAGCCCCCCCTTTGGCGGGTGCCATTGTAGCCGAGGTCGGCGCTGAAGCGGTGCCACAGATACTGCGTGGTGAGCGGGCCCTGCAGGACCAAGGCAAAGTTGGCCAGGAAGACCAGCGGCTCTACCGGGCCCCGGCACAGCACGGCAGCCGCAGGGCGGGCGCGGGGCTTTTCCGGGGGGCTCGCGCTCCCCTCCATGTGCGTGCGCGGCGGAGCTGTCGCCAGGCGGGCGGCGGGGCGCGCGAGCGACTCGCTGCCTGGGACCAGCGACGCGTGGCGTGGGGCTTGCGCTGTCTGCGCCTGCGCCCGGCGTCCCTCCTTAAATGTCCGGCGGGGAGGGGCCTGTGACCTGAGGCCACCGGACTCTCGCCGCGGGTGCACCTGGCTGGGCGTGGGCCAGCGAGGGGCCCGGCACCCCCAGCCCGCGGGATGACCTCACCTGTAAAGTGTGCGTAGACACCGCCCTGCAGCCCTCCCTCCCGGCCCAGACACACCACAGATAACAAGAATATCAACAATTAACATGTATTGACCACTTACTATGTGCTGGGCACGGTATTAAACCCTTTTTGTGCGTTGGTCTCCCGATAACTCTACAGGCTAGCCAATATTAACCATCGCTATCTACCGCTGAGGAAACGAGGTCATCGGGTACTCAAGGCAGAGCTGGAAGAGCACATGACTCCTGATGCTGCTGATGTTCTGCGCTGTAACAGAGAGGCAGCTGGAGAGGATCGGAGTGGGCTGAGCCCAGCTGCCTGGGTTGGAGCACCTAGGCTCTGCCACTACCTTCGGCATGCCACTTACCACCCTGAG
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Task1_train_23885
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This gene mutation involves SLC46A1 (solute carrier family 46 member 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Congenital defect of folate absorption
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GTGTGGCCTGGGGTACTTACCCTCTCTGATCCTGACTCCCTGTATGAGGAAGATAATAAGGCCTTCATCACAGGATGGTTCTGAGGCATAGGAGGCTGAATAATGGTGCCCAATGGCATCAGATTCATAGCCCTGGAACCTGTAAATACTACCTTATTTGGAAAATGAGTCTATGCAGGTGTGCAGTTAAGCCTCCTGAGAGAGCAGAGTTATCCTGGATTAGGTTGGGCCCTAAATGCCGTCACACATATCTTTATAAGAGGAAAGCAGACGGAGATTTGGCACCGACAGAATTGAGAAGGCACAAAGAGGAGGAGAGTCAATGTGAGCACAGAGGCAGAGACTGGTGATGGCCGCCCCAAGCCAAGGAATGCCAGCAGCCCCAGAAGCTGGAAGAAATGAGAAACACGTTCTCTCCTGGAGGCTTGCAAGGGAGCACTGCCTGCTGACTGCTTCCATTCAGCCCGGTGGTACTGACTTTGGACTTCTGGCCTCCAGAACTGTGAGAGAATATGTTTCTGTTGTGTTAAGCCCCCAAGTTTGTGGTATGTCATTACAGCAATCTCAGGGAACCAATACATGAGGTAAAAAGGTAACATCTATGAAGAGCATGGCATAGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAAAGCAATTAGTGTATGAGCCACACTTTTGTCTTTTGCTCTATATTACTAACAATATTAATGGTTGATAACAGTGGGTTAATTACTTTAGCTACTGAAGGTCTATATTTTCCATGTATCAAAGATGGCATTTTTGAGGGATTTCTTAGTTGTCTGTTCTCCAGTGCAGGCTGGGGGCATAACTATGTTTCCAAAGACACAGGAATGAACCACATCTGGGGGCAGTGAGTGGCCGGCCCCCAGTTCTTACCCAGTGCCTCTGGGACAAGCTGTCCCTGAGCCCACACACTTTACCTGTGAACATGAGAGGCGTGATAGTGGCAAAGGCAAAGACCACCATCCCCAGGATGTTGAAGGCCAGGCCGATCTCAGCTACCCAGGCATCGGCCAGGCAGTACTGCAGGAGCTTCAGGGCCAGCAGGCTGGTGAGGTAGGGGAGATGCTGAGCTGCAGAACCATAGCCGATTAGTTTGGAGTCCCAGCAGAGGGGTGTGCTTAGTTCATAAAGGGTTAAGATGTCCTGGGCCCCAAAGTGCACAGTGATCACCACGAAGATGGCCAGTGAGTAGAGGGCTAAATGTTTCCTGGACTTCTCTGGGGCGGGAGCCACATAGAGCTGGACAATGGATCGGTGGTGACGGAACGTGAAGAGCCGGGTGGACTTTGGCTCCTTTAAGGTCTCACCAAAGCAGAAAGCTGCATAGAGAGTCATGGCTATCAGCAAGGCCAAGGCCAGCCAGAAGGGGTTGGCATAACCCTGGGCCCGGAGCCAGTGGCCCCCGAGGAGGCTTGCCAGCATCCCAGCCACCCCGATGCTGGCTTCCAGCAGGGCCATCCGGAAGGTGCGGCTGCGACTGGAGCTGACATCTGCCACGGACGCAAAGCTAGCAGCCAGAAGGCCACCGAAGTCGCCGAGGAGGGCACAAAGGATGCGACCCAGCACGAAGTAGCCGACGTGGAGCTGCAGCTGCACCACAAAAACGGACACTAGGGCCTGGAGCAGCAGGCCCAGCGAGGCCAGCACTAGCAGCGGGCGGCGGCCCACACTGTCGCTCCAAGCTCCCAGCAGGGTGGACGAGAAGAGCCCCACCAGGAAGCCGCCCACGTTCATGTAGAGGGTCCAGTGGGAGGTAAGGGTCTCCACTTCCTGTAGGGGCACAATGACCAGGGTGCGGTTCCTCACTCTGGGTTCCACAATCCCCAAATCCTCGCCATCCCGGGAGCTACAGGGATGAGGACTTCCTTTGGAGCCCTAAACCTCAGAGAATCTTAGCACAGCTTTCAAAATCTGCCAGTGGAGAGGGGGAAGGACATGGACCAAGGCCCCATTCCCTTTCCTTTCCCCCCCCTTTTGTTAACCTGCAAGGCCAGACTTTAGCTCAGCTTTTCGCATCCCACCCGCTGAGGTTCTCGGTCAGGCCCCTTTGCTCTGGTCCCGCCCACCATCCAAAATGCACCCTCCCTCCAGTTACCCGCCACTACCATTACGCAGGCCCCGCCCCTCCGCTGCCCCCACGCTCCAGACCAGGGCCCTCCACCTGCCAGGCTCCTCGCCGCCCCGCTACCTGCATGGTGGGGTCCGCGCTGCGGTTGCTGCAGCCCCCCCTTTGGCGGGTGCCATTGTAGCCGAGGTCGGCGCTGAAGCGGTGCCACAGATACTGCGTGGTGAGCGGGCCCTGCAGGACCAAGGCAAAGTTGGCCAGGAAGACCAGCGGCTCTACCGGGCCCCGGCACAGCACGGCAGCCGCAGGGCGGGCGCGGGGCTTTTCCGGGGGGCTCGCGCTCCCCTCCATGTGCGTGCGCGGCGGAGCTGTCGCCAGGCGGGCGGCGGGGCGCGCGAGCGACTCGCTGCCTGGGACCAGCGACGCGTGGCGTGGGGCTTGCGCTGTCTGCGCCTGCGCCCGGCGTCCCTCCTTAAATGTCCGGCGGGGAGGGGCCTGTGACCTGAGGCCACCGGACTCTCGCCGCGGGTGCACCTGGCTGGGCGTGGGCCAGCGAGGGGCCCGGCACCCCCAGCCCGCGGGATGACCTCACCTGTAAAGTGTGCGTAGACACCGCCCTGCAGCCCTCCCTCCCGGCCCAGACACACCACAGATAACAAGAATATCAACAATTAACATGTATTGACCACTTACTATGTGCTGGGCACGGTATTAAACCCTTTTTGTGCGTTGGTCTCCCGATAACTCTACAGGCTAGCCAATATTAACCATCGCTATCTACCGCTGAGGAAACGAGGTCATCGGGTACTCAAGGCAGAGCTGGAAGAGCACATGACTCCTGATGCTGCTGATGTTCTGCGCTGTAACAGAGAGGCAGCTGGAGAGGATCGGAGTGGGCTGAGCCCAGCTGCCTGGGTTGGAGCACCTAGGCTCTGCCACTACCTTCGGCATGCCACTTACCACCCTGAGCCTCTGTTTTTTCATCTGTAAAATGGAGTTGCTAACAAAACATGTCTCAAAAAGTTGT
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GTGTGGCCTGGGGTACTTACCCTCTCTGATCCTGACTCCCTGTATGAGGAAGATAATAAGGCCTTCATCACAGGATGGTTCTGAGGCATAGGAGGCTGAATAATGGTGCCCAATGGCATCAGATTCATAGCCCTGGAACCTGTAAATACTACCTTATTTGGAAAATGAGTCTATGCAGGTGTGCAGTTAAGCCTCCTGAGAGAGCAGAGTTATCCTGGATTAGGTTGGGCCCTAAATGCCGTCACACATATCTTTATAAGAGGAAAGCAGACGGAGATTTGGCACCGACAGAATTGAGAAGGCACAAAGAGGAGGAGAGTCAATGTGAGCACAGAGGCAGAGACTGGTGATGGCCGCCCCAAGCCAAGGAATGCCAGCAGCCCCAGAAGCTGGAAGAAATGAGAAACACGTTCTCTCCTGGAGGCTTGCAAGGGAGCACTGCCTGCTGACTGCTTCCATTCAGCCCGGTGGTACTGACTTTGGACTTCTGGCCTCCAGAACTGTGAGAGAATATGTTTCTGTTGTGTTAAGCCCCCAAGTTTGTGGTATGTCATTACAGCAATCTCAGGGAACCAATACATGAGGTAAAAAGGTAACATCTATGAAGAGCATGGCATAGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAAAGCAATTAGTGTATGAGCCACACTTTTGTCTTTTGCTCTATATTACTAACAATATTAATGGTTGATAACAGTGGGTTAATTACTTTAGCTACTGAAGGTCTATATTTTCCATGTATCAAAGATGGCATTTTTGAGGGATTTCTTAGTTGTCTGTTCTCCAGTGCAGGCTGGGGGCATAACTATGTTTCCAAAGACACAGGAATGAACCACATCTGGGGGCAGTGAGTGGCCGGCCCCCAGTTCTTACCCAGTGCCTCTGGGACAAGCTGTCCCTGAGCCCACACACTTTACCTGTGAACATGAGAGGCGTGATAGTGGCAAAGGCAAAGACCACCATCCCCAGGATGTTGAAGGCCAGGCCGATCTCAGCTACCCAGGCATCGGCCAGGCAGTACTGCAGGAGCTTCAGGGCCAGCAGCCTGGTGAGGTAGGGGAGATGCTGAGCTGCAGAACCATAGCCGATTAGTTTGGAGTCCCAGCAGAGGGGTGTGCTTAGTTCATAAAGGGTTAAGATGTCCTGGGCCCCAAAGTGCACAGTGATCACCACGAAGATGGCCAGTGAGTAGAGGGCTAAATGTTTCCTGGACTTCTCTGGGGCGGGAGCCACATAGAGCTGGACAATGGATCGGTGGTGACGGAACGTGAAGAGCCGGGTGGACTTTGGCTCCTTTAAGGTCTCACCAAAGCAGAAAGCTGCATAGAGAGTCATGGCTATCAGCAAGGCCAAGGCCAGCCAGAAGGGGTTGGCATAACCCTGGGCCCGGAGCCAGTGGCCCCCGAGGAGGCTTGCCAGCATCCCAGCCACCCCGATGCTGGCTTCCAGCAGGGCCATCCGGAAGGTGCGGCTGCGACTGGAGCTGACATCTGCCACGGACGCAAAGCTAGCAGCCAGAAGGCCACCGAAGTCGCCGAGGAGGGCACAAAGGATGCGACCCAGCACGAAGTAGCCGACGTGGAGCTGCAGCTGCACCACAAAAACGGACACTAGGGCCTGGAGCAGCAGGCCCAGCGAGGCCAGCACTAGCAGCGGGCGGCGGCCCACACTGTCGCTCCAAGCTCCCAGCAGGGTGGACGAGAAGAGCCCCACCAGGAAGCCGCCCACGTTCATGTAGAGGGTCCAGTGGGAGGTAAGGGTCTCCACTTCCTGTAGGGGCACAATGACCAGGGTGCGGTTCCTCACTCTGGGTTCCACAATCCCCAAATCCTCGCCATCCCGGGAGCTACAGGGATGAGGACTTCCTTTGGAGCCCTAAACCTCAGAGAATCTTAGCACAGCTTTCAAAATCTGCCAGTGGAGAGGGGGAAGGACATGGACCAAGGCCCCATTCCCTTTCCTTTCCCCCCCCTTTTGTTAACCTGCAAGGCCAGACTTTAGCTCAGCTTTTCGCATCCCACCCGCTGAGGTTCTCGGTCAGGCCCCTTTGCTCTGGTCCCGCCCACCATCCAAAATGCACCCTCCCTCCAGTTACCCGCCACTACCATTACGCAGGCCCCGCCCCTCCGCTGCCCCCACGCTCCAGACCAGGGCCCTCCACCTGCCAGGCTCCTCGCCGCCCCGCTACCTGCATGGTGGGGTCCGCGCTGCGGTTGCTGCAGCCCCCCCTTTGGCGGGTGCCATTGTAGCCGAGGTCGGCGCTGAAGCGGTGCCACAGATACTGCGTGGTGAGCGGGCCCTGCAGGACCAAGGCAAAGTTGGCCAGGAAGACCAGCGGCTCTACCGGGCCCCGGCACAGCACGGCAGCCGCAGGGCGGGCGCGGGGCTTTTCCGGGGGGCTCGCGCTCCCCTCCATGTGCGTGCGCGGCGGAGCTGTCGCCAGGCGGGCGGCGGGGCGCGCGAGCGACTCGCTGCCTGGGACCAGCGACGCGTGGCGTGGGGCTTGCGCTGTCTGCGCCTGCGCCCGGCGTCCCTCCTTAAATGTCCGGCGGGGAGGGGCCTGTGACCTGAGGCCACCGGACTCTCGCCGCGGGTGCACCTGGCTGGGCGTGGGCCAGCGAGGGGCCCGGCACCCCCAGCCCGCGGGATGACCTCACCTGTAAAGTGTGCGTAGACACCGCCCTGCAGCCCTCCCTCCCGGCCCAGACACACCACAGATAACAAGAATATCAACAATTAACATGTATTGACCACTTACTATGTGCTGGGCACGGTATTAAACCCTTTTTGTGCGTTGGTCTCCCGATAACTCTACAGGCTAGCCAATATTAACCATCGCTATCTACCGCTGAGGAAACGAGGTCATCGGGTACTCAAGGCAGAGCTGGAAGAGCACATGACTCCTGATGCTGCTGATGTTCTGCGCTGTAACAGAGAGGCAGCTGGAGAGGATCGGAGTGGGCTGAGCCCAGCTGCCTGGGTTGGAGCACCTAGGCTCTGCCACTACCTTCGGCATGCCACTTACCACCCTGAGCCTCTGTTTTTTCATCTGTAAAATGGAGTTGCTAACAAAACATGTCTCAAAAAGTTGT
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Task1_train_23886
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Mutation context: Chromosome 17, Gene SLC46A1 (solute carrier family 46 member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Congenital defect of folate absorption
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AGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAAAGCAATTAGTGTATGAGCCACACTTTTGTCTTTTGCTCTATATTACTAACAATATTAATGGTTGATAACAGTGGGTTAATTACTTTAGCTACTGAAGGTCTATATTTTCCATGTATCAAAGATGGCATTTTTGAGGGATTTCTTAGTTGTCTGTTCTCCAGTGCAGGCTGGGGGCATAACTATGTTTCCAAAGACACAGGAATGAACCACATCTGGGGGCAGTGAGTGGCCGGCCCCCAGTTCTTACCCAGTGCCTCTGGGACAAGCTGTCCCTGAGCCCACACACTTTACCTGTGAACATGAGAGGCGTGATAGTGGCAAAGGCAAAGACCACCATCCCCAGGATGTTGAAGGCCAGGCCGATCTCAGCTACCCAGGCATCGGCCAGGCAGTACTGCAGGAGCTTCAGGGCCAGCAGGCTGGTGAGGTAGGGGAGATGCTGAGCTGCAGAACCATAGCCGATTAGTTTGGAGTCCCAGCAGAGGGGTGTGCTTAGTTCATAAAGGGTTAAGATGTCCTGGGCCCCAAAGTGCACAGTGATCACCACGAAGATGGCCAGTGAGTAGAGGGCTAAATGTTTCCTGGACTTCTCTGGGGCGGGAGCCACATAGAGCTGGACAATGGATCGGTGGTGACGGAACGTGAAGAGCCGGGTGGACTTTGGCTCCTTTAAGGTCTCACCAAAGCAGAAAGCTGCATAGAGAGTCATGGCTATCAGCAAGGCCAAGGCCAGCCAGAAGGGGTTGGCATAACCCTGGGCCCGGAGCCAGTGGCCCCCGAGGAGGCTTGCCAGCATCCCAGCCACCCCGATGCTGGCTTCCAGCAGGGCCATCCGGAAGGTGCGGCTGCGACTGGAGCTGACATCTGCCACGGACGCAAAGCTAGCAGCCAGAAGGCCACCGAAGTCGCCGAGGAGGGCACAAAGGATGCGACCCAGCACGAAGTAGCCGACGTGGAGCTGCAGCTGCACCACAAAAACGGACACTAGGGCCTGGAGCAGCAGGCCCAGCGAGGCCAGCACTAGCAGCGGGCGGCGGCCCACACTGTCGCTCCAAGCTCCCAGCAGGGTGGACGAGAAGAGCCCCACCAGGAAGCCGCCCACGTTCATGTAGAGGGTCCAGTGGGAGGTAAGGGTCTCCACTTCCTGTAGGGGCACAATGACCAGGGTGCGGTTCCTCACTCTGGGTTCCACAATCCCCAAATCCTCGCCATCCCGGGAGCTACAGGGATGAGGACTTCCTTTGGAGCCCTAAACCTCAGAGAATCTTAGCACAGCTTTCAAAATCTGCCAGTGGAGAGGGGGAAGGACATGGACCAAGGCCCCATTCCCTTTCCTTTCCCCCCCCTTTTGTTAACCTGCAAGGCCAGACTTTAGCTCAGCTTTTCGCATCCCACCCGCTGAGGTTCTCGGTCAGGCCCCTTTGCTCTGGTCCCGCCCACCATCCAAAATGCACCCTCCCTCCAGTTACCCGCCACTACCATTACGCAGGCCCCGCCCCTCCGCTGCCCCCACGCTCCAGACCAGGGCCCTCCACCTGCCAGGCTCCTCGCCGCCCCGCTACCTGCATGGTGGGGTCCGCGCTGCGGTTGCTGCAGCCCCCCCTTTGGCGGGTGCCATTGTAGCCGAGGTCGGCGCTGAAGCGGTGCCACAGATACTGCGTGGTGAGCGGGCCCTGCAGGACCAAGGCAAAGTTGGCCAGGAAGACCAGCGGCTCTACCGGGCCCCGGCACAGCACGGCAGCCGCAGGGCGGGCGCGGGGCTTTTCCGGGGGGCTCGCGCTCCCCTCCATGTGCGTGCGCGGCGGAGCTGTCGCCAGGCGGGCGGCGGGGCGCGCGAGCGACTCGCTGCCTGGGACCAGCGACGCGTGGCGTGGGGCTTGCGCTGTCTGCGCCTGCGCCCGGCGTCCCTCCTTAAATGTCCGGCGGGGAGGGGCCTGTGACCTGAGGCCACCGGACTCTCGCCGCGGGTGCACCTGGCTGGGCGTGGGCCAGCGAGGGGCCCGGCACCCCCAGCCCGCGGGATGACCTCACCTGTAAAGTGTGCGTAGACACCGCCCTGCAGCCCTCCCTCCCGGCCCAGACACACCACAGATAACAAGAATATCAACAATTAACATGTATTGACCACTTACTATGTGCTGGGCACGGTATTAAACCCTTTTTGTGCGTTGGTCTCCCGATAACTCTACAGGCTAGCCAATATTAACCATCGCTATCTACCGCTGAGGAAACGAGGTCATCGGGTACTCAAGGCAGAGCTGGAAGAGCACATGACTCCTGATGCTGCTGATGTTCTGCGCTGTAACAGAGAGGCAGCTGGAGAGGATCGGAGTGGGCTGAGCCCAGCTGCCTGGGTTGGAGCACCTAGGCTCTGCCACTACCTTCGGCATGCCACTTACCACCCTGAGCCTCTGTTTTTTCATCTGTAAAATGGAGTTGCTAACAAAACATGTCTCAAAAAGTTGTGGAAAAGCAGTGTCTGGTATATTCAAAGTGCTATTATTGCTATTAACAGGCTGTCACGTCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTTGGAGGCTGAGGCGCATGGATCGCTTGAACCCAGGAGTTCGAGACCAATCTGGGCAACATGGTAAAACCCTGTCTCTACAAAAAATACACAAAAATTAGCCAGGCGTAGTAGCAGATACCTGTAGTCCCAGGTACTCGGGTGGCTGAGGTGGGAGGATCAATTGAGCCCAGGAGGCAGAGGTTGCAGTGGGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAATATAAAATAAAAATAAAATAAAAAACAAGCTGTCACTTGCTCCACTCCTGCCCTAGGATCTTTTCCTGGGAAACTAGTCTTGTTTCTGGGGTCAGGCAGGGCCTGGCTCTGCAGTTCCCTTAGAGAAGATGGGGGAGGGCCTGGGAGGTCCTTGGGTGTGAACCTATGCTCCTGGGTGGCTCCCATTATAGGAATTAGGCCAGAAGGCAGTCACCTGCTCTGCTGCTGAGGAGGTCAGACCCTGTCTGGGCCTCTGTTTTATTGCCTGTA
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AGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAAAGCAATTAGTGTATGAGCCACACTTTTGTCTTTTGCTCTATATTACTAACAATATTAATGGTTGATAACAGTGGGTTAATTACTTTAGCTACTGAAGGTCTATATTTTCCATGTATCAAAGATGGCATTTTTGAGGGATTTCTTAGTTGTCTGTTCTCCAGTGCAGGCTGGGGGCATAACTATGTTTCCAAAGACACAGGAATGAACCACATCTGGGGGCAGTGAGTGGCCGGCCCCCAGTTCTTACCCAGTGCCTCTGGGACAAGCTGTCCCTGAGCCCACACACTTTACCTGTGAACATGAGAGGCGTGATAGTGGCAAAGGCAAAGACCACCATCCCCAGGATGTTGAAGGCCAGGCCGATCTCAGCTACCCAGGCATCGGCCAGGCAGTACTGCAGGAGCTTCAGGGCCAGCAGGCTGGTGAGGTAGGGGAGATGCTGAGCTGCAGAACCATAGCCGATTAGTTTGGAGTCCCAGCAGAGGGGTGTGCTTAGTTCATAAAGGGTTAAGATGTCCTGGGCCCCAAAGTGCACAGTGATCACCACGAAGATGGCCAGTGAGTAGAGGGCTAAATGTTTCCTGGACTTCTCTGGGGCGGGAGCCACATAGAGCTGGACAATGGATCGGTGGTGACGGAACGTGAAGAGCCGGGTGGACTTTGGCTCCTTTAAGGTCTCACCAAAGCAGAAAGCTGCATAGAGAGTCATGGCTATCAGCAAGGCCAAGGCCAGCCAGAAGGGGTTGGCATAACCCTGGGCCCGGAGCCAGTGGCCCCCGAGGAGGCTTGCCAGCATCCCAGCCACCCCGATGCTGGCTTCCAGCAGGGCCATCCGGAAGGTGCGGCTGCGACTGGAGCTGACATCTGCCACGGACGCAAAGCTAGCAGCCAGAAGGCCACCGAAGTCGCCGAGGAGGGCACAAAGGATGCGACCCAGCACGAAGTAGCCGACGTGGAGCTGCAGCTGCACCACAAAAACGGACACTAGGGCCTGGAGCAGCAGGCCCAGCGAGGCCAGCACTAGCAGCGGGCGGCAGCCCACACTGTCGCTCCAAGCTCCCAGCAGGGTGGACGAGAAGAGCCCCACCAGGAAGCCGCCCACGTTCATGTAGAGGGTCCAGTGGGAGGTAAGGGTCTCCACTTCCTGTAGGGGCACAATGACCAGGGTGCGGTTCCTCACTCTGGGTTCCACAATCCCCAAATCCTCGCCATCCCGGGAGCTACAGGGATGAGGACTTCCTTTGGAGCCCTAAACCTCAGAGAATCTTAGCACAGCTTTCAAAATCTGCCAGTGGAGAGGGGGAAGGACATGGACCAAGGCCCCATTCCCTTTCCTTTCCCCCCCCTTTTGTTAACCTGCAAGGCCAGACTTTAGCTCAGCTTTTCGCATCCCACCCGCTGAGGTTCTCGGTCAGGCCCCTTTGCTCTGGTCCCGCCCACCATCCAAAATGCACCCTCCCTCCAGTTACCCGCCACTACCATTACGCAGGCCCCGCCCCTCCGCTGCCCCCACGCTCCAGACCAGGGCCCTCCACCTGCCAGGCTCCTCGCCGCCCCGCTACCTGCATGGTGGGGTCCGCGCTGCGGTTGCTGCAGCCCCCCCTTTGGCGGGTGCCATTGTAGCCGAGGTCGGCGCTGAAGCGGTGCCACAGATACTGCGTGGTGAGCGGGCCCTGCAGGACCAAGGCAAAGTTGGCCAGGAAGACCAGCGGCTCTACCGGGCCCCGGCACAGCACGGCAGCCGCAGGGCGGGCGCGGGGCTTTTCCGGGGGGCTCGCGCTCCCCTCCATGTGCGTGCGCGGCGGAGCTGTCGCCAGGCGGGCGGCGGGGCGCGCGAGCGACTCGCTGCCTGGGACCAGCGACGCGTGGCGTGGGGCTTGCGCTGTCTGCGCCTGCGCCCGGCGTCCCTCCTTAAATGTCCGGCGGGGAGGGGCCTGTGACCTGAGGCCACCGGACTCTCGCCGCGGGTGCACCTGGCTGGGCGTGGGCCAGCGAGGGGCCCGGCACCCCCAGCCCGCGGGATGACCTCACCTGTAAAGTGTGCGTAGACACCGCCCTGCAGCCCTCCCTCCCGGCCCAGACACACCACAGATAACAAGAATATCAACAATTAACATGTATTGACCACTTACTATGTGCTGGGCACGGTATTAAACCCTTTTTGTGCGTTGGTCTCCCGATAACTCTACAGGCTAGCCAATATTAACCATCGCTATCTACCGCTGAGGAAACGAGGTCATCGGGTACTCAAGGCAGAGCTGGAAGAGCACATGACTCCTGATGCTGCTGATGTTCTGCGCTGTAACAGAGAGGCAGCTGGAGAGGATCGGAGTGGGCTGAGCCCAGCTGCCTGGGTTGGAGCACCTAGGCTCTGCCACTACCTTCGGCATGCCACTTACCACCCTGAGCCTCTGTTTTTTCATCTGTAAAATGGAGTTGCTAACAAAACATGTCTCAAAAAGTTGTGGAAAAGCAGTGTCTGGTATATTCAAAGTGCTATTATTGCTATTAACAGGCTGTCACGTCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTTGGAGGCTGAGGCGCATGGATCGCTTGAACCCAGGAGTTCGAGACCAATCTGGGCAACATGGTAAAACCCTGTCTCTACAAAAAATACACAAAAATTAGCCAGGCGTAGTAGCAGATACCTGTAGTCCCAGGTACTCGGGTGGCTGAGGTGGGAGGATCAATTGAGCCCAGGAGGCAGAGGTTGCAGTGGGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAATATAAAATAAAAATAAAATAAAAAACAAGCTGTCACTTGCTCCACTCCTGCCCTAGGATCTTTTCCTGGGAAACTAGTCTTGTTTCTGGGGTCAGGCAGGGCCTGGCTCTGCAGTTCCCTTAGAGAAGATGGGGGAGGGCCTGGGAGGTCCTTGGGTGTGAACCTATGCTCCTGGGTGGCTCCCATTATAGGAATTAGGCCAGAAGGCAGTCACCTGCTCTGCTGCTGAGGAGGTCAGACCCTGTCTGGGCCTCTGTTTTATTGCCTGTA
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Task1_train_23887
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A variant on Chromosome 17 in gene SLC46A1 (solute carrier family 46 member 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; Congenital defect of folate absorption
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AGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAAAGCAATTAGTGTATGAGCCACACTTTTGTCTTTTGCTCTATATTACTAACAATATTAATGGTTGATAACAGTGGGTTAATTACTTTAGCTACTGAAGGTCTATATTTTCCATGTATCAAAGATGGCATTTTTGAGGGATTTCTTAGTTGTCTGTTCTCCAGTGCAGGCTGGGGGCATAACTATGTTTCCAAAGACACAGGAATGAACCACATCTGGGGGCAGTGAGTGGCCGGCCCCCAGTTCTTACCCAGTGCCTCTGGGACAAGCTGTCCCTGAGCCCACACACTTTACCTGTGAACATGAGAGGCGTGATAGTGGCAAAGGCAAAGACCACCATCCCCAGGATGTTGAAGGCCAGGCCGATCTCAGCTACCCAGGCATCGGCCAGGCAGTACTGCAGGAGCTTCAGGGCCAGCAGGCTGGTGAGGTAGGGGAGATGCTGAGCTGCAGAACCATAGCCGATTAGTTTGGAGTCCCAGCAGAGGGGTGTGCTTAGTTCATAAAGGGTTAAGATGTCCTGGGCCCCAAAGTGCACAGTGATCACCACGAAGATGGCCAGTGAGTAGAGGGCTAAATGTTTCCTGGACTTCTCTGGGGCGGGAGCCACATAGAGCTGGACAATGGATCGGTGGTGACGGAACGTGAAGAGCCGGGTGGACTTTGGCTCCTTTAAGGTCTCACCAAAGCAGAAAGCTGCATAGAGAGTCATGGCTATCAGCAAGGCCAAGGCCAGCCAGAAGGGGTTGGCATAACCCTGGGCCCGGAGCCAGTGGCCCCCGAGGAGGCTTGCCAGCATCCCAGCCACCCCGATGCTGGCTTCCAGCAGGGCCATCCGGAAGGTGCGGCTGCGACTGGAGCTGACATCTGCCACGGACGCAAAGCTAGCAGCCAGAAGGCCACCGAAGTCGCCGAGGAGGGCACAAAGGATGCGACCCAGCACGAAGTAGCCGACGTGGAGCTGCAGCTGCACCACAAAAACGGACACTAGGGCCTGGAGCAGCAGGCCCAGCGAGGCCAGCACTAGCAGCGGGCGGCGGCCCACACTGTCGCTCCAAGCTCCCAGCAGGGTGGACGAGAAGAGCCCCACCAGGAAGCCGCCCACGTTCATGTAGAGGGTCCAGTGGGAGGTAAGGGTCTCCACTTCCTGTAGGGGCACAATGACCAGGGTGCGGTTCCTCACTCTGGGTTCCACAATCCCCAAATCCTCGCCATCCCGGGAGCTACAGGGATGAGGACTTCCTTTGGAGCCCTAAACCTCAGAGAATCTTAGCACAGCTTTCAAAATCTGCCAGTGGAGAGGGGGAAGGACATGGACCAAGGCCCCATTCCCTTTCCTTTCCCCCCCCTTTTGTTAACCTGCAAGGCCAGACTTTAGCTCAGCTTTTCGCATCCCACCCGCTGAGGTTCTCGGTCAGGCCCCTTTGCTCTGGTCCCGCCCACCATCCAAAATGCACCCTCCCTCCAGTTACCCGCCACTACCATTACGCAGGCCCCGCCCCTCCGCTGCCCCCACGCTCCAGACCAGGGCCCTCCACCTGCCAGGCTCCTCGCCGCCCCGCTACCTGCATGGTGGGGTCCGCGCTGCGGTTGCTGCAGCCCCCCCTTTGGCGGGTGCCATTGTAGCCGAGGTCGGCGCTGAAGCGGTGCCACAGATACTGCGTGGTGAGCGGGCCCTGCAGGACCAAGGCAAAGTTGGCCAGGAAGACCAGCGGCTCTACCGGGCCCCGGCACAGCACGGCAGCCGCAGGGCGGGCGCGGGGCTTTTCCGGGGGGCTCGCGCTCCCCTCCATGTGCGTGCGCGGCGGAGCTGTCGCCAGGCGGGCGGCGGGGCGCGCGAGCGACTCGCTGCCTGGGACCAGCGACGCGTGGCGTGGGGCTTGCGCTGTCTGCGCCTGCGCCCGGCGTCCCTCCTTAAATGTCCGGCGGGGAGGGGCCTGTGACCTGAGGCCACCGGACTCTCGCCGCGGGTGCACCTGGCTGGGCGTGGGCCAGCGAGGGGCCCGGCACCCCCAGCCCGCGGGATGACCTCACCTGTAAAGTGTGCGTAGACACCGCCCTGCAGCCCTCCCTCCCGGCCCAGACACACCACAGATAACAAGAATATCAACAATTAACATGTATTGACCACTTACTATGTGCTGGGCACGGTATTAAACCCTTTTTGTGCGTTGGTCTCCCGATAACTCTACAGGCTAGCCAATATTAACCATCGCTATCTACCGCTGAGGAAACGAGGTCATCGGGTACTCAAGGCAGAGCTGGAAGAGCACATGACTCCTGATGCTGCTGATGTTCTGCGCTGTAACAGAGAGGCAGCTGGAGAGGATCGGAGTGGGCTGAGCCCAGCTGCCTGGGTTGGAGCACCTAGGCTCTGCCACTACCTTCGGCATGCCACTTACCACCCTGAGCCTCTGTTTTTTCATCTGTAAAATGGAGTTGCTAACAAAACATGTCTCAAAAAGTTGTGGAAAAGCAGTGTCTGGTATATTCAAAGTGCTATTATTGCTATTAACAGGCTGTCACGTCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTTGGAGGCTGAGGCGCATGGATCGCTTGAACCCAGGAGTTCGAGACCAATCTGGGCAACATGGTAAAACCCTGTCTCTACAAAAAATACACAAAAATTAGCCAGGCGTAGTAGCAGATACCTGTAGTCCCAGGTACTCGGGTGGCTGAGGTGGGAGGATCAATTGAGCCCAGGAGGCAGAGGTTGCAGTGGGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAATATAAAATAAAAATAAAATAAAAAACAAGCTGTCACTTGCTCCACTCCTGCCCTAGGATCTTTTCCTGGGAAACTAGTCTTGTTTCTGGGGTCAGGCAGGGCCTGGCTCTGCAGTTCCCTTAGAGAAGATGGGGGAGGGCCTGGGAGGTCCTTGGGTGTGAACCTATGCTCCTGGGTGGCTCCCATTATAGGAATTAGGCCAGAAGGCAGTCACCTGCTCTGCTGCTGAGGAGGTCAGACCCTGTCTGGGCCTCTGTTTTATTGCCTGTA
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AGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAGTTGAGTTAAGAAATCTGTGATTATTGTATTGTTGACTATACACAGCACATTTTAGGGCTCTATCAAAATAAATCTGTCCCTTTAAAAAAAGTTAACTAAAGCCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCCTTGAGCTCAGGAGTTAGAGACCTGGACTGGGCAAAATGGTGAGGACCCCATCTCTATAAAAAATACAAAAATTAGCAAGGTGTGGTAATGTGCACCAGTGGTCCCAGCTACTAGAGAGGCCAAGGTGGGAGGATCATCTGGGCCCGGGGGATGAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCTAGCCTGGGTAACAAAGCGAGACCCTGTCTCTAAATACATCAATCAAATAAAAATTTTAAAAAGTTAACTTCCTCATTTACTGGCCTGTTGACCCTCTCCCATCAAAAAAAGAAGGGGAGGAAGTGAGGAGGGAAAGGAGAAGGAGAAAGAGGAGAAGAGGAACTGAAGCAGGAATTTCATATCTGTGGTCCGAGAAGACTGGTTTTTAAAAAACCCAAAGAAGCTGACTAAGGGTATTTGAGGTAGGTCCTGTGATTCTTATCAGAGAAGTGAGTACCAGGCATTAATGGCATGGACTTTGTTTAAGAACATATGAATAGGCGGTGGGAGGCCAAGGGGTAAAGCAATTAGTGTATGAGCCACACTTTTGTCTTTTGCTCTATATTACTAACAATATTAATGGTTGATAACAGTGGGTTAATTACTTTAGCTACTGAAGGTCTATATTTTCCATGTATCAAAGATGGCATTTTTGAGGGATTTCTTAGTTGTCTGTTCTCCAGTGCAGGCTGGGGGCATAACTATGTTTCCAAAGACACAGGAATGAACCACATCTGGGGGCAGTGAGTGGCCGGCCCCCAGTTCTTACCCAGTGCCTCTGGGACAAGCTGTCCCTGAGCCCACACACTTTACCTGTGAACATGAGAGGCGTGATAGTGGCAAAGGCAAAGACCACCATCCCCAGGATGTTGAAGGCCAGGCCGATCTCAGCTACCCAGGCATCGGCCAGGCAGTACTGCAGGAGCTTCAGGGCCAGCAGGCTGGTGAGGTAGGGGAGATGCTGAGCTGCAGAACCATAGCCGATTAGTTTGGAGTCCCAGCAGAGGGGTGTGCTTAGTTCATAAAGGGTTAAGATGTCCTGGGCCCCAAAGTGCACAGTGATCACCACGAAGATGGCCAGTGAGTAGAGGGCTAAATGTTTCCTGGACTTCTCTGGGGCGGGAGCCACATAGAGCTGGACAATGGATCGGTGGTGACGGAACGTGAAGAGCCGGGTGGACTTTGGCTCCTTTAAGGTCTCACCAAAGCAGAAAGCTGCATAGAGAGTCATGGCTATCAGCAAGGCCAAGGCCAGCCAGAAGGGGTTGGCATAACCCTGGGCCCGGAGCCAGTGGCCCCCGAGGAGGCTTGCCAGCATCCCAGCCACCCCGATGCTGGCTTCCAGCAGGGCCATCCGGAAGGTGCGGCTGCGACTGGAGCTGACATCTGCCACGGACGCAAAGCTAGCAGCCAGAAGGCCACCGAAGTCGCCGAGGAGGGCACAAAGGATGCGACCCAGCACGAAGTAGCCGACGTGGAGCTGCAGCTGCACCACAAAAACGGACACTAGGGCCTGGAGCAGCAGGCCCAGCGAGGCCAGCACTAGCAGCGGGCGGCTGCCCACACTGTCGCTCCAAGCTCCCAGCAGGGTGGACGAGAAGAGCCCCACCAGGAAGCCGCCCACGTTCATGTAGAGGGTCCAGTGGGAGGTAAGGGTCTCCACTTCCTGTAGGGGCACAATGACCAGGGTGCGGTTCCTCACTCTGGGTTCCACAATCCCCAAATCCTCGCCATCCCGGGAGCTACAGGGATGAGGACTTCCTTTGGAGCCCTAAACCTCAGAGAATCTTAGCACAGCTTTCAAAATCTGCCAGTGGAGAGGGGGAAGGACATGGACCAAGGCCCCATTCCCTTTCCTTTCCCCCCCCTTTTGTTAACCTGCAAGGCCAGACTTTAGCTCAGCTTTTCGCATCCCACCCGCTGAGGTTCTCGGTCAGGCCCCTTTGCTCTGGTCCCGCCCACCATCCAAAATGCACCCTCCCTCCAGTTACCCGCCACTACCATTACGCAGGCCCCGCCCCTCCGCTGCCCCCACGCTCCAGACCAGGGCCCTCCACCTGCCAGGCTCCTCGCCGCCCCGCTACCTGCATGGTGGGGTCCGCGCTGCGGTTGCTGCAGCCCCCCCTTTGGCGGGTGCCATTGTAGCCGAGGTCGGCGCTGAAGCGGTGCCACAGATACTGCGTGGTGAGCGGGCCCTGCAGGACCAAGGCAAAGTTGGCCAGGAAGACCAGCGGCTCTACCGGGCCCCGGCACAGCACGGCAGCCGCAGGGCGGGCGCGGGGCTTTTCCGGGGGGCTCGCGCTCCCCTCCATGTGCGTGCGCGGCGGAGCTGTCGCCAGGCGGGCGGCGGGGCGCGCGAGCGACTCGCTGCCTGGGACCAGCGACGCGTGGCGTGGGGCTTGCGCTGTCTGCGCCTGCGCCCGGCGTCCCTCCTTAAATGTCCGGCGGGGAGGGGCCTGTGACCTGAGGCCACCGGACTCTCGCCGCGGGTGCACCTGGCTGGGCGTGGGCCAGCGAGGGGCCCGGCACCCCCAGCCCGCGGGATGACCTCACCTGTAAAGTGTGCGTAGACACCGCCCTGCAGCCCTCCCTCCCGGCCCAGACACACCACAGATAACAAGAATATCAACAATTAACATGTATTGACCACTTACTATGTGCTGGGCACGGTATTAAACCCTTTTTGTGCGTTGGTCTCCCGATAACTCTACAGGCTAGCCAATATTAACCATCGCTATCTACCGCTGAGGAAACGAGGTCATCGGGTACTCAAGGCAGAGCTGGAAGAGCACATGACTCCTGATGCTGCTGATGTTCTGCGCTGTAACAGAGAGGCAGCTGGAGAGGATCGGAGTGGGCTGAGCCCAGCTGCCTGGGTTGGAGCACCTAGGCTCTGCCACTACCTTCGGCATGCCACTTACCACCCTGAGCCTCTGTTTTTTCATCTGTAAAATGGAGTTGCTAACAAAACATGTCTCAAAAAGTTGTGGAAAAGCAGTGTCTGGTATATTCAAAGTGCTATTATTGCTATTAACAGGCTGTCACGTCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTTGGAGGCTGAGGCGCATGGATCGCTTGAACCCAGGAGTTCGAGACCAATCTGGGCAACATGGTAAAACCCTGTCTCTACAAAAAATACACAAAAATTAGCCAGGCGTAGTAGCAGATACCTGTAGTCCCAGGTACTCGGGTGGCTGAGGTGGGAGGATCAATTGAGCCCAGGAGGCAGAGGTTGCAGTGGGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAATATAAAATAAAAATAAAATAAAAAACAAGCTGTCACTTGCTCCACTCCTGCCCTAGGATCTTTTCCTGGGAAACTAGTCTTGTTTCTGGGGTCAGGCAGGGCCTGGCTCTGCAGTTCCCTTAGAGAAGATGGGGGAGGGCCTGGGAGGTCCTTGGGTGTGAACCTATGCTCCTGGGTGGCTCCCATTATAGGAATTAGGCCAGAAGGCAGTCACCTGCTCTGCTGCTGAGGAGGTCAGACCCTGTCTGGGCCTCTGTTTTATTGCCTGTA
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Task1_train_23888
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The gene PIGS (phosphatidylinositol glycan anchor biosynthesis class S) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Glycosylphosphatidylinositol biosynthesis defect 18
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CACTCTGGCCCTCTCTGGCTACTCCAGTCCCAAGCTGCAGAATCCATCCCCTGCCTGCTTACCTCAGATGCCACGTCGTCCTTAATGACAATGTTGCTGATCTTGCCCAGAAGCTGCGCCAGGGAGGTAAGGGTGGTGGTGGCTGTGGCCAGGTTCTCCACTGACCGAGCCCAGAGCAGCCGGTCTAGCTCCCAGGTCATTAGCCCTTCACTCGTAGGCCCTGAAAGCAGGCATTTTGGAGGCAGCTGGGGCTGAGCAATCCCAAAGAGCAACCTGTAGGAACATCGGAGTAAGATCAAGGTGGCTGAGACCACAAGGCGGGAGATCATGGCTAAGATTTCTCAAATATCTGTCCTGAGCCAGTGATTTTCAATCTTACCCAGAACCATAGGGGTTAAAGGGAAGTACCTCAGGGTCTTGGGGGCATAAGGGGCAACACCAAACAAGTTGGCCCCAAACGCTGCTTCAACAGGTGTTTCTGCTTTTACCTGTTTCTACATTAGATTTCCAAGATCTTGTTTTTTAAAAAAAGGTTCCATGGCTAAAATACTTCTGATAACACCAACTCAGTTTAATCCTTTCACCTTTTCTACCCTCTCTTTGAACAAATGGGGCCAATGGGACTTAGCATTAAGGGATGATCCAGGACTGCCTTTGCCAAGGCACATGTGCTGTGCTTCTCTAAGCCTGCATCCGTGAGAGACACTGCTAGTCAATCAGAAGAATACTCTTTCCTAATGAGCCCAGATACAGCCTTAGAATCCTCAACACAGAGCCTCAGGCAGCCACTCTCAATCCATCAGGCAGCATAAGAATTAACAGCTATTTTCTTAAGCAGCCCTAATCACACTCCATGGACCTGACATTCATGAGTCTATTTTTCTTAAAACTGGTTTTGCTGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAAGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTTTCTACTAAAATTACAAAAAATTAGCCAGTTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAAATGGCACCACTGCACTCCGGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAATAAATGATTTTGTCACCTACTAGTCCTTCTTAGAAGGATGATGGGATCCTTAGAAACTTTTCTTGGTTTCCCTGGGGCTCTAGGCACAGCCAAGATATCCCTGCCAGGTAAGACTTGATTCCACTTTGCAACTCCCCTCTACAGCCAAGGAGACTATGTCCCCAAGTGGATCATCCAGGACCTCACCGCAACTGTGCCAGGAACACCTCCATCACTCGCACCATGTCCACCTCGACTCTCACTGGCAGCACTGAGGCATTATAGGTTTTGGAGTCAACATTATATACCTGAAAGGGGGAATGAGATTGCCACAACATCATACCAGGCCCTTGCACAGCTCTGCCCTAGGCACTCTGGAGAGAAAAGGAAAACATATTCTGTGCTCTTTAGAAGCTATAAACCTCATGGTATAGCTAATATTTTTTGAGTACCTACTACGGAGAGCATTAAATACATTATCCCAATTACCCCCTTGAAAGTCCTGTAGAACATATTTTTTTCTTATCCCATTTTAGAATTCTCCCCCATGAGAAACTTCCAGTCTAACAAGGGAGACAAGGCTCCCAACCTTGCAAGACTCCCACAAATAAGGCGAAGATCTAAGATGGACACAGAATGATCCTAGGTAAGGGCAAAGGGTCACAGTATAGAAAACACTGGCGGAAACAAAAGTGGGGCCGGCAGAAGAGGGGCATGAGCACATAGCACCCTCACCTTCCTGGTGCCTGCCCCTCCCACAGGCTGGGCCATGGAGGACACCAGAAGGAAAACAGAAGGAACACAGTTTCAGGGACACCTGCCTGTCCCAGAAGCATGGGCTCTGGGGTCTGCGTAGTGTGACTATTACCATAATGCCACCCCAGCGGGGACTATGGAAGGCATTGGTGGCCACTGGAGCGCCATCCTTGTCCTGAATGTACAGCGGTGAGTGTGCAAGCTCAGGCACGTAGAGTAGAAAGTTGAGCACAGGGTACAAGGAGGCAGCACTGGATCCTGTGGTATAAAGGGAAAGCAGAATATCAAAACATGCTGGACCTGGACCTTAGTCCCAGGTCGGCCTCTAACTTGCTGGTCACTCACTCTGGGACTGATTCCCCAACTAACAATCATTAGGATATCCTCCTGTCCAGGGTGTCTCTAGTAAAGGGCTTCAGAATGTTCTCCCGAGATGTGCCATACCGATGGAAACATAGTCCTTAGCTCCAAAACACCCCCGAATTCTCCCTCCTCAAAGGCCCCTTGACTGTCTACGACAGCTTTCTTGGCCACTCCCACAATGTACCCATATTACTACAGATAGTTTTATGCAAACCAGAAATCTGACCTTATGTCAGTTCCCTGCTTAATATCCCTCAATCACTAGCCACCCATATCAGGTTAAAGTTCAAACTCCTTAACATGGTCCTTTATGACCTGGCTCCTGCCTGCCTAACCGGCTTCATCTTTGGTCACTCACTCACATTTCAGCCACACTAAACTACTCTGAGCTTCCTGAATGCCTAAGCTCTCTCACTTGTCTGCATCTAAGCTCACAGTTCCCTTTGCCTGAAATGCCCTTCTTTTCTCTACTCAGCACTGTCATAAGGTAGTCCCTCAGTCAATGTTTGCTGAATGAATAAATGAACGGAGGAATTTTCTAAGGCCTCACATGCCACCCCCTCACAATCCTTGGGCCACACTAGCCTGCCTCTGGTATCTGAGATTCCACAATTAGATATACTCACTTTGGTTTGCCTGTGTTACAGTTCTTAGTCACACCTCCTCTTCCTAGTTTCCACCCGAAAAATGAAAAACTCTAATACTAGCTTCAAGGTTATTCAACCTCAATCAGCAGAACTGTCAATTCAAATTCTGCCCTCAAGTACTTTTGCTGTTGTCTTTCCTATGTGTGTGACAGCCTCTCTCCTAGATGGCTTTTAGGGAGATAGACCCAGCCTAGTCATTCATTTGTAAAAAGTGCTAGGAATCACGTTTAATAAATGCTTTTGGATATGATAGGTGTGAAGATGGAGATATCAACAGAGCATCATGAAAAAGGAACCTAGGGCTCAGGCATAGTGGCTCACGCCTATAATCCCAGCATTTTAGGGGGCTGGGGTGGGAAGATCACTTGAGGGGAGTTCAAGACCAGCATGGGCAACATAATGAGATCCTGTCTCTAAAAAAAATTTTGAAAATTAGCCAAGTGTAGTGGCACATACCTATAGTTCTAGCTACTCGAGAGGCTGAGGTGGGAAGACCACTTGAGTCCAGGAGTTGGAGGCTGCAGTGAGCTATGACTGTGCCACTGCACTTTAGACTGGGCAACAGAGCAAGGCCTTGTCTCAAAAAAAGAAAAAAAGGAGCCTCAATCTCCACAGTCTCCTCGGACCAACCCAACCTGGGAACCATCACTGTATATAATCCACCTCCAACTCCTGTCCCCTACCCAGCTGAGCCGTCAGGGTCCCTCCCTAGCCTGGCAGAAAAGAAAGACCCTCATCCTTAGGTGCTCACCCAGCCGGGACTCCACTGGGTTGATGACATGGGGGAGGCTGTGCATGTCCAAATAGTAGCTGGAGGAAGCTGAGTCAAAGCGGGGATTCACCCCCAACATTGCATAGTAAAGAATCTGTAGAGCAAACAGGGAGTGGTTACTTTGTTTAGATTTATATTCTACTTTCTCCCAAAAAAGATTTGAGGTGCCTTAAAAAAGACACAATCAGGACAAGGCAACATATAAGAGACAAAATCAGGGCTGAGAGAAAATAATTGCAGAAGAAAATAGCAAAGCCAAGGGTAAACTGAATAAACTAAATACGTGCTTTAAAAATCACGTATTTTACCAGGTTTCCTAACAGTCTACACAAAGAGAGAAACAAAGAACAGCATAATTCAGTGTCTACAAGATCAAATCAAGCCAGTT
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CACTCTGGCCCTCTCTGGCTACTCCAGTCCCAAGCTGCAGAATCCATCCCCTGCCTGCTTACCTCAGATGCCACGTCGTCCTTAATGACAATGTTGCTGATCTTGCCCAGAAGCTGCGCCAGGGAGGTAAGGGTGGTGGTGGCTGTGGCCAGGTTCTCCACTGACCGAGCCCAGAGCAGCCGGTCTAGCTCCCAGGTCATTAGCCCTTCACTCGTAGGCCCTGAAAGCAGGCATTTTGGAGGCAGCTGGGGCTGAGCAATCCCAAAGAGCAACCTGTAGGAACATCGGAGTAAGATCAAGGTGGCTGAGACCACAAGGCGGGAGATCATGGCTAAGATTTCTCAAATATCTGTCCTGAGCCAGTGATTTTCAATCTTACCCAGAACCATAGGGGTTAAAGGGAAGTACCTCAGGGTCTTGGGGGCATAAGGGGCAACACCAAACAAGTTGGCCCCAAACGCTGCTTCAACAGGTGTTTCTGCTTTTACCTGTTTCTACATTAGATTTCCAAGATCTTGTTTTTTAAAAAAAGGTTCCATGGCTAAAATACTTCTGATAACACCAACTCAGTTTAATCCTTTCACCTTTTCTACCCTCTCTTTGAACAAATGGGGCCAATGGGACTTAGCATTAAGGGATGATCCAGGACTGCCTTTGCCAAGGCACATGTGCTGTGCTTCTCTAAGCCTGCATCCGTGAGAGACACTGCTAGTCAATCAGAAGAATACTCTTTCCTAATGAGCCCAGATACAGCCTTAGAATCCTCAACACAGAGCCTCAGGCAGCCACTCTCAATCCATCAGGCAGCATAAGAATTAACAGCTATTTTCTTAAGCAGCCCTAATCACACTCCATGGACCTGACATTCATGAGTCTATTTTTCTTAAAACTGGTTTTGCTGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAAGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTTTCTACTAAAATTACAAAAAATTAGCCAGTTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAAATGGCACCACTGCACTCCGGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAATAAATGATTTTGTCACCTACTAGTCCTTCTTAGAAGGATGATGGGATCCTTAGAAACTTTTCTTGGTTTCCCTGGGGCTCTAGGCACAGCCAAGATATCCCTGCCAGGTAAGACTTGATTCCACTTTGCAACTCCCCTCTACAGCCAAGGAGACTATGTCCCCAAGTGGATCATCCAGGACCTCACCGCAACTGTGCCAGGAACACCTCCATCACTCGCACCATGTCCACCTCGACTCTCACTGGCAGCACTGAGGCATTATAGGTTTTGGAGTCAACATTATATACCTGAAAGGGGGAATGAGATTGCCACAACATCATACCAGGCCCTTGCACAGCTCTGCCCTAGGCACTCTGGAGAGAAAAGGAAAACATATTCTGTGCTCTTTAGAAGCTATAAACCTCATGGTATAGCTAATATTTTTTGAGTACCTACTACGGAGAGCATTAAATACATTATCCCAATTACCCCCTTGAAAGTCCTGTAGAACATATTTTTTTCTTATCCCATTTTAGAATTCTCCCCCATGAGAAACTTCCAGTCTAACAAGGGAGACAAGGCTCCCAACCTTGCAAGACTCCCACAAATAAGGCGAAGATCTAAGATGGACACAGAATGATCCTAGGTAAGGGCAAAGGGTCACAGTATAGAAAACACTGGCGGAAACAAAAGTGGGGCCGGCAGAAGAGGGGCATGAGCACATAGCACCCTCACCTTCCTGGTGCCTGCCCCTCCCACAGGCTGGGCCATGGAGGACACCAGAAGGAAAACAGAAGGAACACAGTTTCAGGGACACCTGCCTGTCCCAGAAGCATGGGCTCTGGGGTCTGCGTAGTGTGACTATTACCATAATGCCATCCCAGCGGGGACTATGGAAGGCATTGGTGGCCACTGGAGCGCCATCCTTGTCCTGAATGTACAGCGGTGAGTGTGCAAGCTCAGGCACGTAGAGTAGAAAGTTGAGCACAGGGTACAAGGAGGCAGCACTGGATCCTGTGGTATAAAGGGAAAGCAGAATATCAAAACATGCTGGACCTGGACCTTAGTCCCAGGTCGGCCTCTAACTTGCTGGTCACTCACTCTGGGACTGATTCCCCAACTAACAATCATTAGGATATCCTCCTGTCCAGGGTGTCTCTAGTAAAGGGCTTCAGAATGTTCTCCCGAGATGTGCCATACCGATGGAAACATAGTCCTTAGCTCCAAAACACCCCCGAATTCTCCCTCCTCAAAGGCCCCTTGACTGTCTACGACAGCTTTCTTGGCCACTCCCACAATGTACCCATATTACTACAGATAGTTTTATGCAAACCAGAAATCTGACCTTATGTCAGTTCCCTGCTTAATATCCCTCAATCACTAGCCACCCATATCAGGTTAAAGTTCAAACTCCTTAACATGGTCCTTTATGACCTGGCTCCTGCCTGCCTAACCGGCTTCATCTTTGGTCACTCACTCACATTTCAGCCACACTAAACTACTCTGAGCTTCCTGAATGCCTAAGCTCTCTCACTTGTCTGCATCTAAGCTCACAGTTCCCTTTGCCTGAAATGCCCTTCTTTTCTCTACTCAGCACTGTCATAAGGTAGTCCCTCAGTCAATGTTTGCTGAATGAATAAATGAACGGAGGAATTTTCTAAGGCCTCACATGCCACCCCCTCACAATCCTTGGGCCACACTAGCCTGCCTCTGGTATCTGAGATTCCACAATTAGATATACTCACTTTGGTTTGCCTGTGTTACAGTTCTTAGTCACACCTCCTCTTCCTAGTTTCCACCCGAAAAATGAAAAACTCTAATACTAGCTTCAAGGTTATTCAACCTCAATCAGCAGAACTGTCAATTCAAATTCTGCCCTCAAGTACTTTTGCTGTTGTCTTTCCTATGTGTGTGACAGCCTCTCTCCTAGATGGCTTTTAGGGAGATAGACCCAGCCTAGTCATTCATTTGTAAAAAGTGCTAGGAATCACGTTTAATAAATGCTTTTGGATATGATAGGTGTGAAGATGGAGATATCAACAGAGCATCATGAAAAAGGAACCTAGGGCTCAGGCATAGTGGCTCACGCCTATAATCCCAGCATTTTAGGGGGCTGGGGTGGGAAGATCACTTGAGGGGAGTTCAAGACCAGCATGGGCAACATAATGAGATCCTGTCTCTAAAAAAAATTTTGAAAATTAGCCAAGTGTAGTGGCACATACCTATAGTTCTAGCTACTCGAGAGGCTGAGGTGGGAAGACCACTTGAGTCCAGGAGTTGGAGGCTGCAGTGAGCTATGACTGTGCCACTGCACTTTAGACTGGGCAACAGAGCAAGGCCTTGTCTCAAAAAAAGAAAAAAAGGAGCCTCAATCTCCACAGTCTCCTCGGACCAACCCAACCTGGGAACCATCACTGTATATAATCCACCTCCAACTCCTGTCCCCTACCCAGCTGAGCCGTCAGGGTCCCTCCCTAGCCTGGCAGAAAAGAAAGACCCTCATCCTTAGGTGCTCACCCAGCCGGGACTCCACTGGGTTGATGACATGGGGGAGGCTGTGCATGTCCAAATAGTAGCTGGAGGAAGCTGAGTCAAAGCGGGGATTCACCCCCAACATTGCATAGTAAAGAATCTGTAGAGCAAACAGGGAGTGGTTACTTTGTTTAGATTTATATTCTACTTTCTCCCAAAAAAGATTTGAGGTGCCTTAAAAAAGACACAATCAGGACAAGGCAACATATAAGAGACAAAATCAGGGCTGAGAGAAAATAATTGCAGAAGAAAATAGCAAAGCCAAGGGTAAACTGAATAAACTAAATACGTGCTTTAAAAATCACGTATTTTACCAGGTTTCCTAACAGTCTACACAAAGAGAGAAACAAAGAACAGCATAATTCAGTGTCTACAAGATCAAATCAAGCCAGTT
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Task1_train_23889
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A change on Chromosome 17 affects gene PIGS (phosphatidylinositol glycan anchor biosynthesis class S). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Glycosylphosphatidylinositol biosynthesis defect 18
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ATGACAATGTTGCTGATCTTGCCCAGAAGCTGCGCCAGGGAGGTAAGGGTGGTGGTGGCTGTGGCCAGGTTCTCCACTGACCGAGCCCAGAGCAGCCGGTCTAGCTCCCAGGTCATTAGCCCTTCACTCGTAGGCCCTGAAAGCAGGCATTTTGGAGGCAGCTGGGGCTGAGCAATCCCAAAGAGCAACCTGTAGGAACATCGGAGTAAGATCAAGGTGGCTGAGACCACAAGGCGGGAGATCATGGCTAAGATTTCTCAAATATCTGTCCTGAGCCAGTGATTTTCAATCTTACCCAGAACCATAGGGGTTAAAGGGAAGTACCTCAGGGTCTTGGGGGCATAAGGGGCAACACCAAACAAGTTGGCCCCAAACGCTGCTTCAACAGGTGTTTCTGCTTTTACCTGTTTCTACATTAGATTTCCAAGATCTTGTTTTTTAAAAAAAGGTTCCATGGCTAAAATACTTCTGATAACACCAACTCAGTTTAATCCTTTCACCTTTTCTACCCTCTCTTTGAACAAATGGGGCCAATGGGACTTAGCATTAAGGGATGATCCAGGACTGCCTTTGCCAAGGCACATGTGCTGTGCTTCTCTAAGCCTGCATCCGTGAGAGACACTGCTAGTCAATCAGAAGAATACTCTTTCCTAATGAGCCCAGATACAGCCTTAGAATCCTCAACACAGAGCCTCAGGCAGCCACTCTCAATCCATCAGGCAGCATAAGAATTAACAGCTATTTTCTTAAGCAGCCCTAATCACACTCCATGGACCTGACATTCATGAGTCTATTTTTCTTAAAACTGGTTTTGCTGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAAGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTTTCTACTAAAATTACAAAAAATTAGCCAGTTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAAATGGCACCACTGCACTCCGGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAATAAATGATTTTGTCACCTACTAGTCCTTCTTAGAAGGATGATGGGATCCTTAGAAACTTTTCTTGGTTTCCCTGGGGCTCTAGGCACAGCCAAGATATCCCTGCCAGGTAAGACTTGATTCCACTTTGCAACTCCCCTCTACAGCCAAGGAGACTATGTCCCCAAGTGGATCATCCAGGACCTCACCGCAACTGTGCCAGGAACACCTCCATCACTCGCACCATGTCCACCTCGACTCTCACTGGCAGCACTGAGGCATTATAGGTTTTGGAGTCAACATTATATACCTGAAAGGGGGAATGAGATTGCCACAACATCATACCAGGCCCTTGCACAGCTCTGCCCTAGGCACTCTGGAGAGAAAAGGAAAACATATTCTGTGCTCTTTAGAAGCTATAAACCTCATGGTATAGCTAATATTTTTTGAGTACCTACTACGGAGAGCATTAAATACATTATCCCAATTACCCCCTTGAAAGTCCTGTAGAACATATTTTTTTCTTATCCCATTTTAGAATTCTCCCCCATGAGAAACTTCCAGTCTAACAAGGGAGACAAGGCTCCCAACCTTGCAAGACTCCCACAAATAAGGCGAAGATCTAAGATGGACACAGAATGATCCTAGGTAAGGGCAAAGGGTCACAGTATAGAAAACACTGGCGGAAACAAAAGTGGGGCCGGCAGAAGAGGGGCATGAGCACATAGCACCCTCACCTTCCTGGTGCCTGCCCCTCCCACAGGCTGGGCCATGGAGGACACCAGAAGGAAAACAGAAGGAACACAGTTTCAGGGACACCTGCCTGTCCCAGAAGCATGGGCTCTGGGGTCTGCGTAGTGTGACTATTACCATAATGCCACCCCAGCGGGGACTATGGAAGGCATTGGTGGCCACTGGAGCGCCATCCTTGTCCTGAATGTACAGCGGTGAGTGTGCAAGCTCAGGCACGTAGAGTAGAAAGTTGAGCACAGGGTACAAGGAGGCAGCACTGGATCCTGTGGTATAAAGGGAAAGCAGAATATCAAAACATGCTGGACCTGGACCTTAGTCCCAGGTCGGCCTCTAACTTGCTGGTCACTCACTCTGGGACTGATTCCCCAACTAACAATCATTAGGATATCCTCCTGTCCAGGGTGTCTCTAGTAAAGGGCTTCAGAATGTTCTCCCGAGATGTGCCATACCGATGGAAACATAGTCCTTAGCTCCAAAACACCCCCGAATTCTCCCTCCTCAAAGGCCCCTTGACTGTCTACGACAGCTTTCTTGGCCACTCCCACAATGTACCCATATTACTACAGATAGTTTTATGCAAACCAGAAATCTGACCTTATGTCAGTTCCCTGCTTAATATCCCTCAATCACTAGCCACCCATATCAGGTTAAAGTTCAAACTCCTTAACATGGTCCTTTATGACCTGGCTCCTGCCTGCCTAACCGGCTTCATCTTTGGTCACTCACTCACATTTCAGCCACACTAAACTACTCTGAGCTTCCTGAATGCCTAAGCTCTCTCACTTGTCTGCATCTAAGCTCACAGTTCCCTTTGCCTGAAATGCCCTTCTTTTCTCTACTCAGCACTGTCATAAGGTAGTCCCTCAGTCAATGTTTGCTGAATGAATAAATGAACGGAGGAATTTTCTAAGGCCTCACATGCCACCCCCTCACAATCCTTGGGCCACACTAGCCTGCCTCTGGTATCTGAGATTCCACAATTAGATATACTCACTTTGGTTTGCCTGTGTTACAGTTCTTAGTCACACCTCCTCTTCCTAGTTTCCACCCGAAAAATGAAAAACTCTAATACTAGCTTCAAGGTTATTCAACCTCAATCAGCAGAACTGTCAATTCAAATTCTGCCCTCAAGTACTTTTGCTGTTGTCTTTCCTATGTGTGTGACAGCCTCTCTCCTAGATGGCTTTTAGGGAGATAGACCCAGCCTAGTCATTCATTTGTAAAAAGTGCTAGGAATCACGTTTAATAAATGCTTTTGGATATGATAGGTGTGAAGATGGAGATATCAACAGAGCATCATGAAAAAGGAACCTAGGGCTCAGGCATAGTGGCTCACGCCTATAATCCCAGCATTTTAGGGGGCTGGGGTGGGAAGATCACTTGAGGGGAGTTCAAGACCAGCATGGGCAACATAATGAGATCCTGTCTCTAAAAAAAATTTTGAAAATTAGCCAAGTGTAGTGGCACATACCTATAGTTCTAGCTACTCGAGAGGCTGAGGTGGGAAGACCACTTGAGTCCAGGAGTTGGAGGCTGCAGTGAGCTATGACTGTGCCACTGCACTTTAGACTGGGCAACAGAGCAAGGCCTTGTCTCAAAAAAAGAAAAAAAGGAGCCTCAATCTCCACAGTCTCCTCGGACCAACCCAACCTGGGAACCATCACTGTATATAATCCACCTCCAACTCCTGTCCCCTACCCAGCTGAGCCGTCAGGGTCCCTCCCTAGCCTGGCAGAAAAGAAAGACCCTCATCCTTAGGTGCTCACCCAGCCGGGACTCCACTGGGTTGATGACATGGGGGAGGCTGTGCATGTCCAAATAGTAGCTGGAGGAAGCTGAGTCAAAGCGGGGATTCACCCCCAACATTGCATAGTAAAGAATCTGTAGAGCAAACAGGGAGTGGTTACTTTGTTTAGATTTATATTCTACTTTCTCCCAAAAAAGATTTGAGGTGCCTTAAAAAAGACACAATCAGGACAAGGCAACATATAAGAGACAAAATCAGGGCTGAGAGAAAATAATTGCAGAAGAAAATAGCAAAGCCAAGGGTAAACTGAATAAACTAAATACGTGCTTTAAAAATCACGTATTTTACCAGGTTTCCTAACAGTCTACACAAAGAGAGAAACAAAGAACAGCATAATTCAGTGTCTACAAGATCAAATCAAGCCAGTTATTCAGAAGCAATTACTCCCACTAGGAAGACCTGATAAAAATTTCTCCCACGTGTTTTCCCTACAAGGAGACAGCGTGATACAG
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ATGACAATGTTGCTGATCTTGCCCAGAAGCTGCGCCAGGGAGGTAAGGGTGGTGGTGGCTGTGGCCAGGTTCTCCACTGACCGAGCCCAGAGCAGCCGGTCTAGCTCCCAGGTCATTAGCCCTTCACTCGTAGGCCCTGAAAGCAGGCATTTTGGAGGCAGCTGGGGCTGAGCAATCCCAAAGAGCAACCTGTAGGAACATCGGAGTAAGATCAAGGTGGCTGAGACCACAAGGCGGGAGATCATGGCTAAGATTTCTCAAATATCTGTCCTGAGCCAGTGATTTTCAATCTTACCCAGAACCATAGGGGTTAAAGGGAAGTACCTCAGGGTCTTGGGGGCATAAGGGGCAACACCAAACAAGTTGGCCCCAAACGCTGCTTCAACAGGTGTTTCTGCTTTTACCTGTTTCTACATTAGATTTCCAAGATCTTGTTTTTTAAAAAAAGGTTCCATGGCTAAAATACTTCTGATAACACCAACTCAGTTTAATCCTTTCACCTTTTCTACCCTCTCTTTGAACAAATGGGGCCAATGGGACTTAGCATTAAGGGATGATCCAGGACTGCCTTTGCCAAGGCACATGTGCTGTGCTTCTCTAAGCCTGCATCCGTGAGAGACACTGCTAGTCAATCAGAAGAATACTCTTTCCTAATGAGCCCAGATACAGCCTTAGAATCCTCAACACAGAGCCTCAGGCAGCCACTCTCAATCCATCAGGCAGCATAAGAATTAACAGCTATTTTCTTAAGCAGCCCTAATCACACTCCATGGACCTGACATTCATGAGTCTATTTTTCTTAAAACTGGTTTTGCTGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAAGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTTTCTACTAAAATTACAAAAAATTAGCCAGTTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAAATGGCACCACTGCACTCCGGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAATAAATGATTTTGTCACCTACTAGTCCTTCTTAGAAGGATGATGGGATCCTTAGAAACTTTTCTTGGTTTCCCTGGGGCTCTAGGCACAGCCAAGATATCCCTGCCAGGTAAGACTTGATTCCACTTTGCAACTCCCCTCTACAGCCAAGGAGACTATGTCCCCAAGTGGATCATCCAGGACCTCACCGCAACTGTGCCAGGAACACCTCCATCACTCGCACCATGTCCACCTCGACTCTCACTGGCAGCACTGAGGCATTATAGGTTTTGGAGTCAACATTATATACCTGAAAGGGGGAATGAGATTGCCACAACATCATACCAGGCCCTTGCACAGCTCTGCCCTAGGCACTCTGGAGAGAAAAGGAAAACATATTCTGTGCTCTTTAGAAGCTATAAACCTCATGGTATAGCTAATATTTTTTGAGTACCTACTACGGAGAGCATTAAATACATTATCCCAATTACCCCCTTGAAAGTCCTGTAGAACATATTTTTTTCTTATCCCATTTTAGAATTCTCCCCCATGAGAAACTTCCAGTCTAACAAGGGAGACAAGGCTCCCAACCTTGCAAGACTCCCACAAATAAGGCGAAGATCTAAGATGGACACAGAATGATCCTAGGTAAGGGCAAAGGGTCACAGTATAGAAAACACTGGCGGAAACAAAAGTGGGGCCGGCAGAAGAGGGGCATGAGCACATAGCACCCTCACCTTCCTGGTGCCTGCCCCTCCCACAGGCTGGGCCATGGAGGACACCAGAAGGAAAACAGAAGGAACACAGTTTCAGGGACACCTGCCTGTCCCAGAAGCATGGGCTCTGGGGTCTGCGTAGTGTGACTATTACCATAATGCCACCCCAGCGGGGACTATGGAAGGCATTGGTGGCCACTGGAGCGCCATCCTTGTCCTGAATGTACAGCGGTGAGTGTGCAAGCTCACGCACGTAGAGTAGAAAGTTGAGCACAGGGTACAAGGAGGCAGCACTGGATCCTGTGGTATAAAGGGAAAGCAGAATATCAAAACATGCTGGACCTGGACCTTAGTCCCAGGTCGGCCTCTAACTTGCTGGTCACTCACTCTGGGACTGATTCCCCAACTAACAATCATTAGGATATCCTCCTGTCCAGGGTGTCTCTAGTAAAGGGCTTCAGAATGTTCTCCCGAGATGTGCCATACCGATGGAAACATAGTCCTTAGCTCCAAAACACCCCCGAATTCTCCCTCCTCAAAGGCCCCTTGACTGTCTACGACAGCTTTCTTGGCCACTCCCACAATGTACCCATATTACTACAGATAGTTTTATGCAAACCAGAAATCTGACCTTATGTCAGTTCCCTGCTTAATATCCCTCAATCACTAGCCACCCATATCAGGTTAAAGTTCAAACTCCTTAACATGGTCCTTTATGACCTGGCTCCTGCCTGCCTAACCGGCTTCATCTTTGGTCACTCACTCACATTTCAGCCACACTAAACTACTCTGAGCTTCCTGAATGCCTAAGCTCTCTCACTTGTCTGCATCTAAGCTCACAGTTCCCTTTGCCTGAAATGCCCTTCTTTTCTCTACTCAGCACTGTCATAAGGTAGTCCCTCAGTCAATGTTTGCTGAATGAATAAATGAACGGAGGAATTTTCTAAGGCCTCACATGCCACCCCCTCACAATCCTTGGGCCACACTAGCCTGCCTCTGGTATCTGAGATTCCACAATTAGATATACTCACTTTGGTTTGCCTGTGTTACAGTTCTTAGTCACACCTCCTCTTCCTAGTTTCCACCCGAAAAATGAAAAACTCTAATACTAGCTTCAAGGTTATTCAACCTCAATCAGCAGAACTGTCAATTCAAATTCTGCCCTCAAGTACTTTTGCTGTTGTCTTTCCTATGTGTGTGACAGCCTCTCTCCTAGATGGCTTTTAGGGAGATAGACCCAGCCTAGTCATTCATTTGTAAAAAGTGCTAGGAATCACGTTTAATAAATGCTTTTGGATATGATAGGTGTGAAGATGGAGATATCAACAGAGCATCATGAAAAAGGAACCTAGGGCTCAGGCATAGTGGCTCACGCCTATAATCCCAGCATTTTAGGGGGCTGGGGTGGGAAGATCACTTGAGGGGAGTTCAAGACCAGCATGGGCAACATAATGAGATCCTGTCTCTAAAAAAAATTTTGAAAATTAGCCAAGTGTAGTGGCACATACCTATAGTTCTAGCTACTCGAGAGGCTGAGGTGGGAAGACCACTTGAGTCCAGGAGTTGGAGGCTGCAGTGAGCTATGACTGTGCCACTGCACTTTAGACTGGGCAACAGAGCAAGGCCTTGTCTCAAAAAAAGAAAAAAAGGAGCCTCAATCTCCACAGTCTCCTCGGACCAACCCAACCTGGGAACCATCACTGTATATAATCCACCTCCAACTCCTGTCCCCTACCCAGCTGAGCCGTCAGGGTCCCTCCCTAGCCTGGCAGAAAAGAAAGACCCTCATCCTTAGGTGCTCACCCAGCCGGGACTCCACTGGGTTGATGACATGGGGGAGGCTGTGCATGTCCAAATAGTAGCTGGAGGAAGCTGAGTCAAAGCGGGGATTCACCCCCAACATTGCATAGTAAAGAATCTGTAGAGCAAACAGGGAGTGGTTACTTTGTTTAGATTTATATTCTACTTTCTCCCAAAAAAGATTTGAGGTGCCTTAAAAAAGACACAATCAGGACAAGGCAACATATAAGAGACAAAATCAGGGCTGAGAGAAAATAATTGCAGAAGAAAATAGCAAAGCCAAGGGTAAACTGAATAAACTAAATACGTGCTTTAAAAATCACGTATTTTACCAGGTTTCCTAACAGTCTACACAAAGAGAGAAACAAAGAACAGCATAATTCAGTGTCTACAAGATCAAATCAAGCCAGTTATTCAGAAGCAATTACTCCCACTAGGAAGACCTGATAAAAATTTCTCCCACGTGTTTTCCCTACAAGGAGACAGCGTGATACAG
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Task1_train_23890
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The gene PIGS (phosphatidylinositol glycan anchor biosynthesis class S) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Glycosylphosphatidylinositol biosynthesis defect 18
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CCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAAATCGTGCCATTGCGCTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAGAAAACCAGAAGTTTGTGTGTGTACAGAGGCTGAACCATACGAAATATCATTTTTTTAAAAAAATGTTTTAACCAGCCGGGTGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGATCACTTGAGCCCAGGAGCTCGAGACCAGCCTGGGCAACATGGCGAAACCCTATCTCTACTAAAAATACCAAAACAAATCAGCTGGGTGTGATGGTGTGCGGCTGTAGTCCCAGCTATTAAGGCAGGTGGGCTGAGATGGGAGGATCGCTTGAGCCCAATAGGTCAAGGCTGCAGTGGGCCCTGATCGTGCCACCATACTCCAGCCTGGGCAACAAAGAGAGACCCTTTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTTTTCACCAAGGCTAAAGAACTAAAAAAGTAAATGGCACACAGATGCCTCATGCTCTAGACTCAGCCCAAATCTCCAGTCATTCCCAGTCTTTCACTACACATTCCAGTAAGGCAAAACTGCTCATAGGTCCCCCAATATGCTGATTCACCCCGCCACACTTTCACACAGGAGTATAGTTTGTTGGTTAAAAGCTTGAACACTGGAATCAGTCAGGCCTGGATTTAAATCCCAGTTCCATCTCTTACTAGCTGTGTGACCTTGCACAAGTTAAATTCTCTAAGGCTCAGTTTCTTCATTTATAAAATGGGGATCATATCATTAGAAAGGATTAAATGAGGCAACACATATAAAATGCTTCACCTAGTTTCTGGCACACAGCGAGCAACAACTATCAGCTATCCTTATACTGTCTCATGCTATTAACTTTGCCTGAAATTCTCTCCCTCCTTTTCCCACTTAACCTGAATTCCTACACATCCTTTAAAAATCCGACTTAAGAATTACATCTCTCAAAACTTTCTCTGCCTTTCTTTCCTCCCAGATGGTTAATACTCTTTACTAAGTGCAATCTCTGTTTCTTGTATACTTCTACTGTAATTTATTTTATCTTTCTCCCCTACCTATGAACATCTTGAAACCATTATCAATTTCTTATTCATTCCTAAATTCTTGGTACCTAAAAAAAAGTACCCCAGTAAAGTGTTTAATGTTAAACTGAATAGGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCATGCGGATCACCTGAAGTCAGGAGTTCGAGAGCAGCATGGCCAACATGGCATAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGTCGCGCGCCTGTAATCCCAGCTACTCGGGTGGCTGGTGCAGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAGCTCCGTCTCAAAATATAATAAATAAATAAACAAACAAACTAAATAGGGCCTATATGCAAATCCAATTTAATTTCAAACTCTGTGTTCTTTCCACTATATCCCACCTCTTCCCCTATACCCTGATGGGCATCAACTGCTTCCGATTAGGTAGCCTGTCTTACGAGTAAAATTGCTATTTAGTGACTGTGAATTTGAAAGTAGTTTTTTTCTGACCAAACACACTGTTCATTCAGAGGTCTTTCAACAGTAAGTTTTTAACTGCGTTTATGGTACACCCCCGCTCCTCCCACCCAACTCAGCTCTGAACTGAGCTCAGAGGCGAAAAGCAGCCCTGATCCCCAGTAACTCACATTTCAGAGGAATCTCTCTTTCATGCACAACGGTGAAGGGCAGCTTCTCCTGGTCGTCCAGGGGCACTGACTCCCGCGTAAACACGACAGTGACAGGCACCATGAGGCGGAGCTACAGGAAGGAGCATCAGGGCCGTCACTGAGTCTCCACCTTGCCGGGGGGGCTGTCCCCCGACCCTCCCGCACAGCAGTCTCACCTGAAGGGCATTCAGGCCACTGATCTGGGAGTAAGGCAACGAGGCCCGGTAGGTCTCCGTGGTCTTCCACCAGAGCGGTAGCCCCAGCACGATGGCCACCGCAGCGAAGAAGAGGGCGGCGCGCTTGCCCCGGGCCACCTCTGAGGGCATGGGGAACCGACTGAGGCGCTGGAAACGGGCTAGGGTACCGGCCCCATCCCCGACGCGGAGAAGCCCCAACCACCGGCCTCCAGGGGCCCGCGTTCATTGGGATCTCCGTGCGAAGGGACCCGGCCCAAGCCTGAAGGGAATCTCGTCTGAAGAGACCCCCGAGCCCCCCGTCCGCGGGACCTCTCGCACACCACAATCCCCACCCCTGCTATTCCTCCCTTGCCATCAGCTAGCTGCAGGCCCCCCACCCGAAGCCCACCGCACCTAGGTGTGTAGCCGCAGCCCCGGCGGCCGCCATGCTAGCTTCCGGCTGCTCCGGCCACCGTGGGGGCAGAGCTTCGTGAGCCTCACCCAATCGGAATCTCTGCAACGAGGGGGCAGGACCGCGGCGGTGATCGGGGCCAATCGCGAGCGCTACTCCAGACCCGCAGACGGGAGCAAGCGGGCGAGGGGTGGGAGGGCTCCGCTGGGAGCTTCGCTGGGGATCTGAAAGGAAGTCACCCGGGCGCGGAGGGACAGCCTAGGGGCCGTGCGGGTTTCGGCGCTGCTGGAACGAAGTTCCCCGCTTCCCTGTAGAACACACTTCTAGCCCCGCAATCAAGAGCGCAACCTCTGCAGTCCTTAAATACTAGCTGGGCAACTACAGGCAGCTCCGAGGCTCATCTGAAAATGGAGATATTTACATAAATGAGGCCGTTCTTGTAAGGAGCCTGGCACACGGAAAGCCCTCAACGTCAACTGTCACGGTCTTATTATCCTTATCGTAGAACTCCTCTTAGGGTGCCCTCTCCTCAAAGCCTCAAACACGGAGGTAGCAAGCTAGTATGTTTTAGCACAATTGGCTCTCTCGCTATTTTAAAATACGTTTTAATTCATTTCCAACTTGGAAAACTCAGAATACTTCACTTAAAAATCTTGAAAAGTCATGAGCCCAGACTCTAGATGCTGATCACTGCGGTTCAAATCCTGGCTTCATCACTTATTAGGTGAGTGATCGTGAGAAGATCGTTCTGTGCCTATCTGTGCCTGTTTTCTCTATTAAAATAGGGATGATAGTAATAGTACCTACTTTATAGAGTTGTATGAAATGTGTCAGTACATATAAAGTGATTAGAACAGGGTTGGTGCTATGTGCAAGCTATTTTTGTTATTATAAAGTCAGGCCACACAGGGTGGAGCATTTGTAGCCTCCCCAGTTGACACAGAACACACGCAGCTTGTTATCTCTTCTTTTTATCTGCTTAGACCCAGGTTCTCAGCCTACCTCACAACCCAGCCCAGTGGTTAAAGTTCAGCATCAGGCCTCACCAGAGCTGTCCTTACCCAGACCCTCCAATTGGCTCCCTTTGTGCCCACTTCTACCCCAAATGAAAATGGGCCATAGCCCTTGGCAACCTCCTAGATGCCCTGCTCAGCCCTGGCAGCCCGCAGAGCCTTGGTTTTCCTCTTTGGGCGGGAGTCCAGGTGCTCGCTTGCCCTTACTGGTGTGGCTCACCCTAGTGGAAGGTACCAGGTCCCAGCTGGGCTTAACACTGCGAGATGGGAGAGACTCCCACCCACTCTTATCCCAGCCTGTCTTGCTGCCTCCCTGCTTTGAGCCTTGCACAAATCTGCCTTCAGGAGTTGCCAGTTTGGCCTCACTCCATACTTCTGTAGCTGCAGCCCAGTGCCACTGATGTGGCAGTCCCTAGAAGACTTGCAGTCTTCCTCATTGCCCCACTCCAGACTTGGACATCAAGAGAGCAAGAGCCTGAGCTGGGGATGGTGACTGCATGTGCCCTTCCTCCATAACTTGAAGCCCAGTAAGACTCAAATCCCACCCTCTCCACCTCCAGAGTCAGAGGGCCCAGAGATAGAATTAGCAGAGATCAGAAACTGGGAGGTGGGAATTTGATGTG
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CCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAAATCGTGCCATTGCGCTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAGAAAACCAGAAGTTTGTGTGTGTACAGAGGCTGAACCATACGAAATATCATTTTTTTAAAAAAATGTTTTAACCAGCCGGGTGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGATCACTTGAGCCCAGGAGCTCGAGACCAGCCTGGGCAACATGGCGAAACCCTATCTCTACTAAAAATACCAAAACAAATCAGCTGGGTGTGATGGTGTGCGGCTGTAGTCCCAGCTATTAAGGCAGGTGGGCTGAGATGGGAGGATCGCTTGAGCCCAATAGGTCAAGGCTGCAGTGGGCCCTGATCGTGCCACCATACTCCAGCCTGGGCAACAAAGAGAGACCCTTTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTTTTCACCAAGGCTAAAGAACTAAAAAAGTAAATGGCACACAGATGCCTCATGCTCTAGACTCAGCCCAAATCTCCAGTCATTCCCAGTCTTTCACTACACATTCCAGTAAGGCAAAACTGCTCATAGGTCCCCCAATATGCTGATTCACCCCGCCACACTTTCACACAGGAGTATAGTTTGTTGGTTAAAAGCTTGAACACTGGAATCAGTCAGGCCTGGATTTAAATCCCAGTTCCATCTCTTACTAGCTGTGTGACCTTGCACAAGTTAAATTCTCTAAGGCTCAGTTTCTTCATTTATAAAATGGGGATCATATCATTAGAAAGGATTAAATGAGGCAACACATATAAAATGCTTCACCTAGTTTCTGGCACACAGCGAGCAACAACTATCAGCTATCCTTATACTGTCTCATGCTATTAACTTTGCCTGAAATTCTCTCCCTCCTTTTCCCACTTAACCTGAATTCCTACACATCCTTTAAAAATCCGACTTAAGAATTACATCTCTCAAAACTTTCTCTGCCTTTCTTTCCTCCCAGATGGTTAATACTCTTTACTAAGTGCAATCTCTGTTTCTTGTATACTTCTACTGTAATTTATTTTATCTTTCTCCCCTACCTATGAACATCTTGAAACCATTATCAATTTCTTATTCATTCCTAAATTCTTGGTACCTAAAAAAAAGTACCCCAGTAAAGTGTTTAATGTTAAACTGAATAGGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCATGCGGATCACCTGAAGTCAGGAGTTCGAGAGCAGCATGGCCAACATGGCATAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGTCGCGCGCCTGTAATCCCAGCTACTCGGGTGGCTGGTGCAGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAGCTCCGTCTCAAAATATAATAAATAAATAAACAAACAAACTAAATAGGGCCTATATGCAAATCCAATTTAATTTCAAACTCTGTGTTCTTTCCACTATATCCCACCTCTTCCCCTATACCCTGATGGGCATCAACTGCTTCCGATTAGGTAGCCTGTCTTACGAGTAAAATTGCTATTTAGTGACTGTGAATTTGAAAGTAGTTTTTTTCTGACCAAACACACTGTTCATTCAGAGGTCTTTCAACAGTAAGTTTTTAACTGCGTTTATGGTACACCCCCGCTCCTCCCACCCAACTCAGCTCTGAACTGAGCTCAGAGGCGAAAAGCAGCCCTGATCCCCAGTAACTCACATTTCAGAGGAATCTCTCTTTCATGCACAACGGTGAAGGGCAGCTTCTCCTGGTCGTCCAGGGGCACTGACTCCCGCGTAAACACGACAGTGACAGGCACCATGAGGCGGAGCTACAGGAAGGAGCATCAGGGCCGTCACTGAGTCTCCACCTTGCCGGGGGGGCTGTCCCCCGACCCTCCCGCACAGCAGTCTCACGTGAAGGGCATTCAGGCCACTGATCTGGGAGTAAGGCAACGAGGCCCGGTAGGTCTCCGTGGTCTTCCACCAGAGCGGTAGCCCCAGCACGATGGCCACCGCAGCGAAGAAGAGGGCGGCGCGCTTGCCCCGGGCCACCTCTGAGGGCATGGGGAACCGACTGAGGCGCTGGAAACGGGCTAGGGTACCGGCCCCATCCCCGACGCGGAGAAGCCCCAACCACCGGCCTCCAGGGGCCCGCGTTCATTGGGATCTCCGTGCGAAGGGACCCGGCCCAAGCCTGAAGGGAATCTCGTCTGAAGAGACCCCCGAGCCCCCCGTCCGCGGGACCTCTCGCACACCACAATCCCCACCCCTGCTATTCCTCCCTTGCCATCAGCTAGCTGCAGGCCCCCCACCCGAAGCCCACCGCACCTAGGTGTGTAGCCGCAGCCCCGGCGGCCGCCATGCTAGCTTCCGGCTGCTCCGGCCACCGTGGGGGCAGAGCTTCGTGAGCCTCACCCAATCGGAATCTCTGCAACGAGGGGGCAGGACCGCGGCGGTGATCGGGGCCAATCGCGAGCGCTACTCCAGACCCGCAGACGGGAGCAAGCGGGCGAGGGGTGGGAGGGCTCCGCTGGGAGCTTCGCTGGGGATCTGAAAGGAAGTCACCCGGGCGCGGAGGGACAGCCTAGGGGCCGTGCGGGTTTCGGCGCTGCTGGAACGAAGTTCCCCGCTTCCCTGTAGAACACACTTCTAGCCCCGCAATCAAGAGCGCAACCTCTGCAGTCCTTAAATACTAGCTGGGCAACTACAGGCAGCTCCGAGGCTCATCTGAAAATGGAGATATTTACATAAATGAGGCCGTTCTTGTAAGGAGCCTGGCACACGGAAAGCCCTCAACGTCAACTGTCACGGTCTTATTATCCTTATCGTAGAACTCCTCTTAGGGTGCCCTCTCCTCAAAGCCTCAAACACGGAGGTAGCAAGCTAGTATGTTTTAGCACAATTGGCTCTCTCGCTATTTTAAAATACGTTTTAATTCATTTCCAACTTGGAAAACTCAGAATACTTCACTTAAAAATCTTGAAAAGTCATGAGCCCAGACTCTAGATGCTGATCACTGCGGTTCAAATCCTGGCTTCATCACTTATTAGGTGAGTGATCGTGAGAAGATCGTTCTGTGCCTATCTGTGCCTGTTTTCTCTATTAAAATAGGGATGATAGTAATAGTACCTACTTTATAGAGTTGTATGAAATGTGTCAGTACATATAAAGTGATTAGAACAGGGTTGGTGCTATGTGCAAGCTATTTTTGTTATTATAAAGTCAGGCCACACAGGGTGGAGCATTTGTAGCCTCCCCAGTTGACACAGAACACACGCAGCTTGTTATCTCTTCTTTTTATCTGCTTAGACCCAGGTTCTCAGCCTACCTCACAACCCAGCCCAGTGGTTAAAGTTCAGCATCAGGCCTCACCAGAGCTGTCCTTACCCAGACCCTCCAATTGGCTCCCTTTGTGCCCACTTCTACCCCAAATGAAAATGGGCCATAGCCCTTGGCAACCTCCTAGATGCCCTGCTCAGCCCTGGCAGCCCGCAGAGCCTTGGTTTTCCTCTTTGGGCGGGAGTCCAGGTGCTCGCTTGCCCTTACTGGTGTGGCTCACCCTAGTGGAAGGTACCAGGTCCCAGCTGGGCTTAACACTGCGAGATGGGAGAGACTCCCACCCACTCTTATCCCAGCCTGTCTTGCTGCCTCCCTGCTTTGAGCCTTGCACAAATCTGCCTTCAGGAGTTGCCAGTTTGGCCTCACTCCATACTTCTGTAGCTGCAGCCCAGTGCCACTGATGTGGCAGTCCCTAGAAGACTTGCAGTCTTCCTCATTGCCCCACTCCAGACTTGGACATCAAGAGAGCAAGAGCCTGAGCTGGGGATGGTGACTGCATGTGCCCTTCCTCCATAACTTGAAGCCCAGTAAGACTCAAATCCCACCCTCTCCACCTCCAGAGTCAGAGGGCCCAGAGATAGAATTAGCAGAGATCAGAAACTGGGAGGTGGGAATTTGATGTG
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Task1_train_23891
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This alteration occurs within gene NEK8 (NIMA related kinase 8) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
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Pathogenic; Renal-hepatic-pancreatic dysplasia 2
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TTGGGTGGAGATGGGGTTTCACCATTTTGGCCAGGTTGTTCTCAAATTCCTGACCTCAAATGCTCCACCCACCTCGGCCTCCCAAAGTGTTAGTATTACAAGTGTGAGCCATTTCGCCCGGCCTAGGCTGATTTTCAAGTGTCTGTTTTTTTGTTGTTTTGTTTTGAGACCATCTCACTTGGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATGGCTAACTGTATCTTCAATGTCCTAGGCTCAGGTGATCCTCCCACCTCATCCTCCAGAGCAGCTGGGACCACAGAGGCTTGCCACCATGCTCAGCTAATTTTTTTTTTTTTTTTTTTTTGCGAGAGTGGGTTTCACCATGTTGCTCAGGCTGGTCTTGAACGCCTGGACTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGCTGAGATCACAGGCCTTAGCCACTTGGCCCTGCCTCAGGTTTCTGATTTTAGCAGTTTCTGATTTTAATAACTGGAGGATGATGGTAGCATTTACTGAGATGGAAGAGACTGAGCAAGGAAAGGTTTGGAGGCAGGAATCAAGAGTTTTATTTTGAATTTGTTAAAATTTAGGATGACTGTGAGCCATTCAAGTGGATATCTGAGTCTAGGGTTCAGAAGAGAAGCCTGATCTGGAGGTAAAAATTTGAGACTTAGATCAGCTTATAGTCCACTCATTCAACAAATACTTATTGACTGCCTATTGTGTGCTAAATATTGGGCTATGCACTGGGGTTATTGTGGTGAACAAGAATGTTGTAGTCCCTGCTTTTATGGAGACTAACCACAGAATTAAAATAAAATAATATGAATGGCTTCTATTCATTGAGCGTTTTCTTTGTGCTGGTCACTGCACTCAGTGCCTTACATGCATTTTCTCATTCCATCCTCTCAACAACCCTGGGAGGCCCATTTCATTTTCCAGACAATGATGTCACATAATGTATCAAACCAGATAACTAGTAAGAGGAGGCACCCAGATTTGAACCCAGGCAGTCTGTGGGAACTTAGAGATCAAGACTAACTTTACCTCACAGTGCCTGTGGTGAAACTGAAGTCCCACACAGCTTGTAATCAGTTCTCCCTGTTCCCAAGTTCAGTGTTCTGTGCGCTTGGTTAGATGACCTCTCAGTCTAGAACCCTCTTCCAAGAGACATCAGTCACTAGGCTGCACCGCCCTGCCTGATATGTGGCTGGAGGCTTAGCTGGTAACCTGTCCCTGTCCTCCGTATCCCTAGGATTGTGCACCTGTGCCTGCGAAAGGCTGACCAGAAGCTGGTGATCATCAAGCAGATTCCAGTGGAACAGATGACCAAGGAAGAGCGGCAGGCAGCCCAGAATGAGTGCCAGGTCCTCAAGCTGCTCAACCACCCCAATGTCATTGAGTACTACGAGAACTTCCTGGAAGACAAAGCCCTTATGATCGCCATGGAATATGCACCAGGTGGGCCAGCCTCCTTACAGTGGCCTGGCTGGAGGGCCTCTTACCTCTGGGACAGGCAGACACAGATCTCCTGGCTTCCCTCCTTGGAATGGGCATGGCCAAGGGTTAGAGTTCTGGTCCCAATTATCTGACCCCGGCTAGCCCCTTGTCCTCTCTGGTCCCAGTGCCCTGTTCCATACATAAAAGGAGAGGGGTTGTTGGCTGGGCACGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCAACGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGTTTAACACGGGGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGGGGGGGCTTGCAGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAACAACAACAATGGAGAGGGGTTGTCGTAGGTGTGAGAAAGCCTGGATCTTGATTAGTCCCTTGGGCCACAGGCGGCACTCTGGCTGAGTTCATCCAAAAGCGCTGTAATTCCCTGCTGGAGGAGGAGACCATCCTGCACTTCTTCGTGCAGATCCTGCTTGCACTGCATCATGTGCACACCCACCTCATCCTGCACCGAGACCTCAAGACCCAGAACATCCTGCTTGACAAACACCGCATGGTCGTCAAGATCGGTGATTTCGGCATCTCCAAGATCCTTAGCAGCAAGAGCAAGGCCTACACGGTGCCTGGGCATGGAAGGGACCTCCAGGGCACTAGAAGTCTTGAGGGCCAGGACCTAACCCTGCCTCCTCCCCTCCCCCTAAAAAACCCTTGGCCCTTTGGCCCCTGTTTGGGTGGTTCTGCAGGAGGAAGCCCCTTGGCTTGCTTTGAGAAGAAGCTGTCCCCAAATGGGCTTATGCACAGAGCCCCTGGTCTTCCCTCCCTGCAGGGCTGTGATCCCAGCTTCTATCCTGCAGGTGGTGGGTACCCCATGCTATATCTCCCCTGAGCTGTGTGAGGGCAAGCCCTACAACCAGAAGAGTGACATCTGGGCCCTGGGCTGTGTCCTCTACGAGCTGGCCAGCCTCAAGAGGGCTTTCGAGGCTGCGGTGAGTGTATGCACCCTCCAGGGGACAACTGAGAAATCTACTGCCTCGCCCAGCAGCCCTTGGCTCAAGCCACCTCAGGTTTCTCCTCTAGCTGAGTCATGTCTCTCCCTTATCAGATTACCCCAGGGGAGGGCTATGGGTGTCCCTCAGACTATGGATTTCTGAGAGTAGGTCTTGCCTCCCATTAGACGGAGGGCTCCTGAGGGCAGGGCTGTGGCTTTCCCAGAAGACCCTCCCAAGAGCAAGACTTGAGTTTTCCCAGCATGCTGGGGTTTCTGAGGATATAGCTGCAGCTCCCCTATCAGACTAGGGATCACTGAAAGCCAGGTTGGACTCCCCTGTCAGTCTGGGAGTCTCCTCATCAGACTGAAGTCTCCTGAGGGCAAAGCTGTTATTGTTTATTTATTTATTTTTTTTATTATACTTTAAGTTTTAGGGCACATGTACACAACGTGCAGGTTTGATACGTATGTATACATGTGCGATGTTGGTGTGCTGCACCCATTAACTCATCATTTAACATTAGGTATATCTCCTAATGCTATCCCTTCCCCCTCCCCCCACCCCACAACAGGCCCCGGTGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGCGATAGTTTGCTGAGAATGATGGTTTCCAGCTCCATCCATGTCCTACAAAGGACATGAACTCATCATTTTTTACGGCTGCATAGTTTTCCATGGTGTGTATGTGCCACGTTTTCTTAATCCATCTATCATTGTTGGACATTTAGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATACACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACTTGTTGTTTCCTGACTTTTTAAAGATCACCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTCTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATATCCTTCGCCCACTTGTTGATGGGGTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCTTTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGATTGCAAAAATCTTCTCCCATTCTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTT
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TTGGGTGGAGATGGGGTTTCACCATTTTGGCCAGGTTGTTCTCAAATTCCTGACCTCAAATGCTCCACCCACCTCGGCCTCCCAAAGTGTTAGTATTACAAGTGTGAGCCATTTCGCCCGGCCTAGGCTGATTTTCAAGTGTCTGTTTTTTTGTTGTTTTGTTTTGAGACCATCTCACTTGGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATGGCTAACTGTATCTTCAATGTCCTAGGCTCAGGTGATCCTCCCACCTCATCCTCCAGAGCAGCTGGGACCACAGAGGCTTGCCACCATGCTCAGCTAATTTTTTTTTTTTTTTTTTTTTGCGAGAGTGGGTTTCACCATGTTGCTCAGGCTGGTCTTGAACGCCTGGACTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGCTGAGATCACAGGCCTTAGCCACTTGGCCCTGCCTCAGGTTTCTGATTTTAGCAGTTTCTGATTTTAATAACTGGAGGATGATGGTAGCATTTACTGAGATGGAAGAGACTGAGCAAGGAAAGGTTTGGAGGCAGGAATCAAGAGTTTTATTTTGAATTTGTTAAAATTTAGGATGACTGTGAGCCATTCAAGTGGATATCTGAGTCTAGGGTTCAGAAGAGAAGCCTGATCTGGAGGTAAAAATTTGAGACTTAGATCAGCTTATAGTCCACTCATTCAACAAATACTTATTGACTGCCTATTGTGTGCTAAATATTGGGCTATGCACTGGGGTTATTGTGGTGAACAAGAATGTTGTAGTCCCTGCTTTTATGGAGACTAACCACAGAATTAAAATAAAATAATATGAATGGCTTCTATTCATTGAGCGTTTTCTTTGTGCTGGTCACTGCACTCAGTGCCTTACATGCATTTTCTCATTCCATCCTCTCAACAACCCTGGGAGGCCCATTTCATTTTCCAGACAATGATGTCACATAATGTATCAAACCAGATAACTAGTAAGAGGAGGCACCCAGATTTGAACCCAGGCAGTCTGTGGGAACTTAGAGATCAAGACTAACTTTACCTCACAGTGCCTGTGGTGAAACTGAAGTCCCACACAGCTTGTAATCAGTTCTCCCTGTTCCCAAGTTCAGTGTTCTGTGCGCTTGGTTAGATGACCTCTCAGTCTAGAACCCTCTTCCAAGAGACATCAGTCACTAGGCTGCACCGCCCTGCCTGATATGTGGCTGGAGGCTTAGCTGGTAACCTGTCCCTGTCCTCCGTATCCCTAGGATTGTGCACCTGTGCCTGCGAAAGGCTGACCAGAAGCTGGTGATCATCAAGCAGATTCCAGTGGAACAGATGACCAAGGAAGAGCGGCAGGCAGCCCAGAATGAGTGCCAGGTCCTCAAGCTGCTCAACCACCCCAATGTCATTGAGTACTACGAGAACTTCCTGGAAGACAAAGCCCTTATGATCGCCATGGAATATGCACCAGGTGGGCCAGCCTCCTTACAGTGGCCTGGCTGGAGGGCCTCTTACCTCTGGGACAGGCAGACACAGATCTCCTGGCTTCCCTCCTTGGAATGGGCATGGCCAAGGGTTAGAGTTCTGGTCCCAATTATCTGACCCCGGCTAGCCCCTTGTCCTCTCTGGTCCCAGTGCCCTGTTCCATACATAAAAGGAGAGGGGTTGTTGGCTGGGCACGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCAACGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGTTTAACACGGGGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGGGGGGGCTTGCAGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAACAACAACAATGGAGAGGGGTTGTCGTAGGTGTGAGAAAGCCTGGATCTTGATTAGTCCCTTGGGCCACAGGCGGCGCTCTGGCTGAGTTCATCCAAAAGCGCTGTAATTCCCTGCTGGAGGAGGAGACCATCCTGCACTTCTTCGTGCAGATCCTGCTTGCACTGCATCATGTGCACACCCACCTCATCCTGCACCGAGACCTCAAGACCCAGAACATCCTGCTTGACAAACACCGCATGGTCGTCAAGATCGGTGATTTCGGCATCTCCAAGATCCTTAGCAGCAAGAGCAAGGCCTACACGGTGCCTGGGCATGGAAGGGACCTCCAGGGCACTAGAAGTCTTGAGGGCCAGGACCTAACCCTGCCTCCTCCCCTCCCCCTAAAAAACCCTTGGCCCTTTGGCCCCTGTTTGGGTGGTTCTGCAGGAGGAAGCCCCTTGGCTTGCTTTGAGAAGAAGCTGTCCCCAAATGGGCTTATGCACAGAGCCCCTGGTCTTCCCTCCCTGCAGGGCTGTGATCCCAGCTTCTATCCTGCAGGTGGTGGGTACCCCATGCTATATCTCCCCTGAGCTGTGTGAGGGCAAGCCCTACAACCAGAAGAGTGACATCTGGGCCCTGGGCTGTGTCCTCTACGAGCTGGCCAGCCTCAAGAGGGCTTTCGAGGCTGCGGTGAGTGTATGCACCCTCCAGGGGACAACTGAGAAATCTACTGCCTCGCCCAGCAGCCCTTGGCTCAAGCCACCTCAGGTTTCTCCTCTAGCTGAGTCATGTCTCTCCCTTATCAGATTACCCCAGGGGAGGGCTATGGGTGTCCCTCAGACTATGGATTTCTGAGAGTAGGTCTTGCCTCCCATTAGACGGAGGGCTCCTGAGGGCAGGGCTGTGGCTTTCCCAGAAGACCCTCCCAAGAGCAAGACTTGAGTTTTCCCAGCATGCTGGGGTTTCTGAGGATATAGCTGCAGCTCCCCTATCAGACTAGGGATCACTGAAAGCCAGGTTGGACTCCCCTGTCAGTCTGGGAGTCTCCTCATCAGACTGAAGTCTCCTGAGGGCAAAGCTGTTATTGTTTATTTATTTATTTTTTTTATTATACTTTAAGTTTTAGGGCACATGTACACAACGTGCAGGTTTGATACGTATGTATACATGTGCGATGTTGGTGTGCTGCACCCATTAACTCATCATTTAACATTAGGTATATCTCCTAATGCTATCCCTTCCCCCTCCCCCCACCCCACAACAGGCCCCGGTGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGCGATAGTTTGCTGAGAATGATGGTTTCCAGCTCCATCCATGTCCTACAAAGGACATGAACTCATCATTTTTTACGGCTGCATAGTTTTCCATGGTGTGTATGTGCCACGTTTTCTTAATCCATCTATCATTGTTGGACATTTAGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATACACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACTTGTTGTTTCCTGACTTTTTAAAGATCACCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTCTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATATCCTTCGCCCACTTGTTGATGGGGTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCTTTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGATTGCAAAAATCTTCTCCCATTCTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTT
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Task1_train_23892
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Mutation context: Chromosome 17, Gene NEK8 (NIMA related kinase 8). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Nephronophthisis 9
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CTTTGTCAGATGAGTAGATTGCAAAAATCTTCTCCCATTCTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTATTCTTCTAGGGGTTTGATGGTTTTAGGTCTAACATGTAAGTCTTTAGTCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTTCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATGTGTGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGGTCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGCATGATGCCTCCAGGCAAAGCTGTTATTATCCCAGGAGACCAGGGGCTGGAGCTGGGGGGTGCTGCCCTCACTTCCCCAAATTCTCAACCTGGTGCCTTCACAGAACTTGCCAGCACTGGTGCTGAAGATCATGAGTGGCACCTTTGCACCTATCTCTGACCGGTACAGCCCTGAGCTTCGCCAGCTGGTCCTGAGTCTACTCAGCCTGGAGCCTGCCCAGCGGCCACCACTCAGCCACATCATGGCACAGCCCCTCTGCATCCGTGCCCTCCTCAACCTCCACACCGACGTGGGCAGTGTCCGCATGCGGAGGCCTGTGCAGGGACAGCGAGCGGTCCTGGGCGGCAGGGTGTGGGCACCCAGTGGGAGCACAGGAGGTCTGAGGCAGAGGGAAACCTGGGGCAAGTCCTCCCTTCCTGCATGTAGGAATGTCAGGAGGGTCTTTGTCCTTAGGCCCCCATCTGTCCTGCAGGGCAGAGAAGTCCGTGGCCCCCAGCAACACAGGGAGCAGGACCACCAGTGTCCGCTGCAGAGGTAAGTGGGAAGAGGCCGCCAGTCCCCATGGATGCCACACCATTCCCATCAGTTTAATAGTCCCCATGCACTGTACCTGCAGGTATCCCCCGGGGACCTGTGAGGCCAGCCATCCCACCACCACTGTCGTCAGTGTATGCCTGGGGTGGTGGGCTGGGCACCCCCCTGCGGCTGCCAATGCTCAACACAGAGGTGGTCCAGGTGGCAGCTGGGCGCACGCAGAAAGCCGGCGTCACGCGCTCTGGGCGTCTCATCCTGTGGGAGGTGAGCAGGCCAGGGGGTGGCCTGGATGGGTGGAGGTGGAGGTCCACAGCAGGGTTGGGGTGCTCAGGCGCTGCCCATCCCCCTGCCCCTGCAGGCCCCACCCCTAGGTGCAGGCGGAGGCAGTCTCCTTCCTGGGGCAGTGGAGCAGCCACAGCCCCAGTTCATCTCGCGTTTCCTGGAGGGCCAGTCGGGTGTGACCATCAAGCACGTGGCCTGTGGGGACTTCTTCACTGCCTGCCTGACTGGTGAGTTGTCGGGCCTACCTTGTGGGACCTGCTCTGAGGCCCCACAGAGCACCTTCTCTCTTCTCTTGCAAAACACGCACTTAATGAATGCTTCTGTCTACTAGTTATCGAGTTATTGCTTCTGTCTAGTAACTATTGAGGAGATTTCCTTATACAACCTCCTTTACCCTACGGACAGGCCTGGCAAGGCAGTTATTATATTATCCTCATTTGACAAGTGGGGACGCTAAGGCTCAGAGAGGGTGTCACTTGTCCAAAGTCACATATGTTTGAAGGGACTCATATCCTTTTCTCTCTTCCTATCCCATCCTTCCAGCCCTGGTCCCCAACTTTATTTTGCTGCTGCAACCCACTGGAGGACCGGGCTATCTGGAAAGACTGTTTAACTTCTTTCCCTTCTCCTTCCTCACTGCCCTTCTCCCCAGACAGAGGCATCATCATGACATTCGGCAGCGGCAGCAATGGGTGCCTAGGCCATGGCAGCCTCACTGACATCAGCCAGGTGGGTGTCACATATACCTTGGGAAGGGGAAGTCGGGGGATGGCGGGGAGCCCACATCTGTGAGTTGACACCAGATTGGGGGCAGGGGAGTTCCCAGCAACCACAGGTTCCTCTAGCTTCCCAGCTGCACCTGCTCTGGGCCACCTACATCGGGGAAAGTACAGAAAAACCAGGCTTCCCCAATGGTTGCCCACCTGGCAGTGTGTATGGCTGGATTTAAAGACACAGCCACCTCCTGAGAATGTGTAGCCTCCAGCTTTGTCCCTACAGGGGGTGTTGAAGCCAGATGGCTCCAGACCCTTTGCCCAGTTTCTCCTTGCTTCCTCTCCTCTCTAGCCCACCATTGTGGAGGCTTTGCTGGGCTATGAAATGGTGCAGGTGGCCTGTGGGGCCTCTCACGTGCTGGCCCTGTCCACTGAGCGAGAACTATTTGCCTGGGGCCGTGGAGACAGCGGTAAGCTCCAGCCTTTAGGCCCCATCTCACAGCATCCTCAGCCATGACTTGCTCCCCTTCATACCCACCTTCCACCTCACAGCACATTCTCTCTTCCCTCTTTTCTCTCAAATTCTCTTCATTCATTCAACAAACCTTTATTTTACACCGACTATGTGCACACCCTGTGCTGGGTGCTGAGATGAGATGGAGATGTGGCTTCCTTCAGGTGTTTATGAGGTAATGAAGGAAATTTCATTCATCCACCTAGTTTTTTATTTTATTTTGAGATGGAGTCTCGCTCTGTTACCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCACCGGGTTCAAGCGAATCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTACAGGCACCCGCCACCGCGCCCAGCAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCATCCACTAATTTTTTTTATTGAGGTCCTCTTTGGGTCAGGCATCAGGCTGGCCACTGAAACTAGAGATGACACTGATGGGTTCTTGTCTTCCTGGAGGACTCAGTCTAGTGGGAGAAAGATGACATTGCCAGCATGCCAGAGAACAGATAGCATCAGGGCTACACCCCAGTGCAGAGGCGTGGAATTCAGTGAACAGTAATGTCAACTGGAGGAGAGAGATGTCATTTGAACAGGGCTTTAAAGGAGGAGGATTTTGAGCCGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATAAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCGGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTGAAGATCATACCCTTGTACTCCAGCCTTGGCGACAGAGTGAGACTCAGTCTCGAAAAATAAAAATAAAAAATAAAGAAGGAGGATTTTAACCAGCAGAGGGGCCTAGGAAAGGCATTTGGGACTGAGAGAACAGAGAACTCATGCTGTTCCCTCCCCTCAGTGGGCCCTCCTCATTCGGGCATCACCCCCACTAAAGCTCAAATTAACTCCTTCTGGGTTTCTTCTTGTAGGCAGACTGGGGCTAGGCACCAGGGAGTCCCACAGCTGCCCCCAGCAGGTGCCCATGCCCCCAGGACAGGAAGCTCAGCGAGTTGTATGTGGTATCGATTCCTCCATGATCCTCACTGTGCCTGGCCAAGCCCTAGCCTGTGGGAGCAACAGGTGAATAGATCATCAGGATGACTAACCTGCCCCTGGCTCTCCTTGGCTGCAAGTGCTCCGTCCATCATTGCCTACCTTTCACCAAAGACCAGAATTGAGGGGGTTGAGGGTGCTATTGGTTCAACCCAGGGTGGGATCTGTCTCCTGGTGCACCA
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CTTTGTCAGATGAGTAGATTGCAAAAATCTTCTCCCATTCTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTATTCTTCTAGGGGTTTGATGGTTTTAGGTCTAACATGTAAGTCTTTAGTCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTTCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATGTGTGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGGTCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGCATGATGCCTCCAGGCAAAGCTGTTATTATCCCAGGAGACCAGGGGCTGGAGCTGGGGGGTGCTGCCCTCACTTCCCCAAATTCTCAACCTGGTGCCTTCACAGAACTTGCCAGCACTGGTGCTGAAGATCATGAGTGGCACCTTTGCACCTATCTCTGACCGGTACAGCCCTGAGCTTCGCCAGCTGGTCCTGAGTCTACTCAGCCTGGAGCCTGCCCAGCGGCCACCACTCAGCCACATCATGGCACAGCCCCTCTGCATCCGTGCCCTCCTCAACCTCCACACCGACGTGGGCAGTGTCCGCATGCGGAGGCCTGTGCAGGGACAGCGAGCGGTCCTGGGCGGCAGGGTGTGGGCACCCAGTGGGAGCACAGGAGGTCTGAGGCAGAGGGAAACCTGGGGCAAGTCCTCCCTTCCTGCATGTAGGAATGTCAGGAGGGTCTTTGTCCTTAGGCCCCCATCTGTCCTGCAGGGCAGAGAAGTCCGTGGCCCCCAGCAACACAGGGAGCAGGACCACCAGTGTCCGCTGCAGAGGTAAGTGGGAAGAGGCCGCCAGTCCCCATGGATGCCACACCATTCCCATCAGTTTAATAGTCCCCATGCACTGTACCTGCAGGTATCCCCCGGGGACCTGTGAGGCCAGCCATCCCACCACCACTGTCGTCAGTGTATGCCTGGGGTGGTGGGCTGGGCACCCCCCTGCGGCTGCCAATGCTCAACACAGAGGTGGTCCAGGTGGCAGCTGGGCGCACGCAGAAAGCCGGCGTCACGCGCTCTGGGCGTCTCATCCTGTGGGAGGTGAGCAGGCCAGGGGGTGGCCTGGATGGGTGGAGGTGGAGGTCCACAGCAGGGTTGGGGTGCTCAGGCGCTGCCCATCCCCCTGCCCCTGCAGGCCCCACCCCTAGGTGCAGGCGGAGGCAGTCTCCTTCCTGGGGCAGTGGAGCAGCCACAGCCCCAGTTCATCTCGCGTTTCCTGGAGGGCCAGTCGGGTGTGACCATCAAGCACGTGGCCTGTGGGGACTTCTTCACTGCCTGCCTGACTGGTGAGTTGTCGGGCCTACCTTGTGGGACCTGCTCTGAGGCCCCACAGAGCACCTTCTCTCTTCTCTTGCAAAACACGCACTTAATGAATGCTTCTGTCTACTAGTTATCGAGTTATTGCTTCTGTCTAGTAACTATTGAGGAGATTTCCTTATACAACCTCCTTTACCCTACGGACAGGCCTGGCAAGGCAGTTATTATATTATCCTCATTTGACAAGTGGGGACGCTAAGGCTCAGAGAGGGTGTCACTTGTCCAAAGTCACATATGTTTGAAGGGACTCATATCCTTTTCTCTCTTCCTATCCCATCCTTCCAGCCCTGGTCCCCAACTTTATTTTGCTGCTGCAACCCACTGGAGGACCGGGCTATCTGGAAAGACTGTTTAACTTCTTTCCCTTCTCCTTCCTCACTGCCCTTCTCCCCAGACAGAGGCATCATCATGACATTCGGCAGCGGCAGCAATGGGTGCCTAGGCTATGGCAGCCTCACTGACATCAGCCAGGTGGGTGTCACATATACCTTGGGAAGGGGAAGTCGGGGGATGGCGGGGAGCCCACATCTGTGAGTTGACACCAGATTGGGGGCAGGGGAGTTCCCAGCAACCACAGGTTCCTCTAGCTTCCCAGCTGCACCTGCTCTGGGCCACCTACATCGGGGAAAGTACAGAAAAACCAGGCTTCCCCAATGGTTGCCCACCTGGCAGTGTGTATGGCTGGATTTAAAGACACAGCCACCTCCTGAGAATGTGTAGCCTCCAGCTTTGTCCCTACAGGGGGTGTTGAAGCCAGATGGCTCCAGACCCTTTGCCCAGTTTCTCCTTGCTTCCTCTCCTCTCTAGCCCACCATTGTGGAGGCTTTGCTGGGCTATGAAATGGTGCAGGTGGCCTGTGGGGCCTCTCACGTGCTGGCCCTGTCCACTGAGCGAGAACTATTTGCCTGGGGCCGTGGAGACAGCGGTAAGCTCCAGCCTTTAGGCCCCATCTCACAGCATCCTCAGCCATGACTTGCTCCCCTTCATACCCACCTTCCACCTCACAGCACATTCTCTCTTCCCTCTTTTCTCTCAAATTCTCTTCATTCATTCAACAAACCTTTATTTTACACCGACTATGTGCACACCCTGTGCTGGGTGCTGAGATGAGATGGAGATGTGGCTTCCTTCAGGTGTTTATGAGGTAATGAAGGAAATTTCATTCATCCACCTAGTTTTTTATTTTATTTTGAGATGGAGTCTCGCTCTGTTACCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCACCGGGTTCAAGCGAATCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTACAGGCACCCGCCACCGCGCCCAGCAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCATCCACTAATTTTTTTTATTGAGGTCCTCTTTGGGTCAGGCATCAGGCTGGCCACTGAAACTAGAGATGACACTGATGGGTTCTTGTCTTCCTGGAGGACTCAGTCTAGTGGGAGAAAGATGACATTGCCAGCATGCCAGAGAACAGATAGCATCAGGGCTACACCCCAGTGCAGAGGCGTGGAATTCAGTGAACAGTAATGTCAACTGGAGGAGAGAGATGTCATTTGAACAGGGCTTTAAAGGAGGAGGATTTTGAGCCGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATAAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCGGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTGAAGATCATACCCTTGTACTCCAGCCTTGGCGACAGAGTGAGACTCAGTCTCGAAAAATAAAAATAAAAAATAAAGAAGGAGGATTTTAACCAGCAGAGGGGCCTAGGAAAGGCATTTGGGACTGAGAGAACAGAGAACTCATGCTGTTCCCTCCCCTCAGTGGGCCCTCCTCATTCGGGCATCACCCCCACTAAAGCTCAAATTAACTCCTTCTGGGTTTCTTCTTGTAGGCAGACTGGGGCTAGGCACCAGGGAGTCCCACAGCTGCCCCCAGCAGGTGCCCATGCCCCCAGGACAGGAAGCTCAGCGAGTTGTATGTGGTATCGATTCCTCCATGATCCTCACTGTGCCTGGCCAAGCCCTAGCCTGTGGGAGCAACAGGTGAATAGATCATCAGGATGACTAACCTGCCCCTGGCTCTCCTTGGCTGCAAGTGCTCCGTCCATCATTGCCTACCTTTCACCAAAGACCAGAATTGAGGGGGTTGAGGGTGCTATTGGTTCAACCCAGGGTGGGATCTGTCTCCTGGTGCACCA
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Task1_train_23893
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This mutation occurs in NEK8 (NIMA related kinase 8) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Renal-hepatic-pancreatic dysplasia 2
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TGGCTCCAGACCCTTTGCCCAGTTTCTCCTTGCTTCCTCTCCTCTCTAGCCCACCATTGTGGAGGCTTTGCTGGGCTATGAAATGGTGCAGGTGGCCTGTGGGGCCTCTCACGTGCTGGCCCTGTCCACTGAGCGAGAACTATTTGCCTGGGGCCGTGGAGACAGCGGTAAGCTCCAGCCTTTAGGCCCCATCTCACAGCATCCTCAGCCATGACTTGCTCCCCTTCATACCCACCTTCCACCTCACAGCACATTCTCTCTTCCCTCTTTTCTCTCAAATTCTCTTCATTCATTCAACAAACCTTTATTTTACACCGACTATGTGCACACCCTGTGCTGGGTGCTGAGATGAGATGGAGATGTGGCTTCCTTCAGGTGTTTATGAGGTAATGAAGGAAATTTCATTCATCCACCTAGTTTTTTATTTTATTTTGAGATGGAGTCTCGCTCTGTTACCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCACCGGGTTCAAGCGAATCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTACAGGCACCCGCCACCGCGCCCAGCAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCATCCACTAATTTTTTTTATTGAGGTCCTCTTTGGGTCAGGCATCAGGCTGGCCACTGAAACTAGAGATGACACTGATGGGTTCTTGTCTTCCTGGAGGACTCAGTCTAGTGGGAGAAAGATGACATTGCCAGCATGCCAGAGAACAGATAGCATCAGGGCTACACCCCAGTGCAGAGGCGTGGAATTCAGTGAACAGTAATGTCAACTGGAGGAGAGAGATGTCATTTGAACAGGGCTTTAAAGGAGGAGGATTTTGAGCCGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATAAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCGGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTGAAGATCATACCCTTGTACTCCAGCCTTGGCGACAGAGTGAGACTCAGTCTCGAAAAATAAAAATAAAAAATAAAGAAGGAGGATTTTAACCAGCAGAGGGGCCTAGGAAAGGCATTTGGGACTGAGAGAACAGAGAACTCATGCTGTTCCCTCCCCTCAGTGGGCCCTCCTCATTCGGGCATCACCCCCACTAAAGCTCAAATTAACTCCTTCTGGGTTTCTTCTTGTAGGCAGACTGGGGCTAGGCACCAGGGAGTCCCACAGCTGCCCCCAGCAGGTGCCCATGCCCCCAGGACAGGAAGCTCAGCGAGTTGTATGTGGTATCGATTCCTCCATGATCCTCACTGTGCCTGGCCAAGCCCTAGCCTGTGGGAGCAACAGGTGAATAGATCATCAGGATGACTAACCTGCCCCTGGCTCTCCTTGGCTGCAAGTGCTCCGTCCATCATTGCCTACCTTTCACCAAAGACCAGAATTGAGGGGGTTGAGGGTGCTATTGGTTCAACCCAGGGTGGGATCTGTCTCCTGGTGCACCAGCTCCTGCCCAAACTGTCTGTCAGTTGGATTTGGCTTCTGGCTCTGCCCTCAGGTTCAACAAGCTGGGCCTGGACCACCTCTCCCTGGGGGAGGAGCCTGTCCCCCACCAGCAAGTGGAGGAGGCCCTGAGCTTCACACTACTAGGCTCTGCACCCCTGGACCAGGAGCCTCTGCTGAGTATAGACCTGGGCACTGCTCACTCAGCTGCTGTGACTGGTGAGGAGGACTTGGGCTCTGGAGGTCAGAGGGGGACTCACGGTCTCCTTGGTACCCTGTTGAAGCACCCCTTTCCTTCCTCTCCCCCATAGCCTCGGGTGATTGCTACACTTTTGGCAGCAATCAGCACGGACAGTTGGGCACCAATACTCGCCGAGGCAGTCGGGCACCCTGTAAGGTCCAAGGCCTTGAGGGCATCAAGATGGCAATGGTAGCCTGTGGGGATGCCTTCACTGTAGCTATTGGGGCAGGTGAGGACTGAGCATGGTGGGGGCAGACAGTGCCATGAGCAGTGGGGGGTGGGGGTTGCTATTCAGGGCCACTGGACTCTGGAGCCTCCCAGGGGCCATCCTGGCAATGTGGGAGGGGAGATCCTGCTCGGGCTGTGCCCACTTCCCACTTCCCTCCTGGGGATTCTTCCTGGCAGAGAGCGAAGTGTACTCTTGGGGCAAAGGGGCGCGAGGTCGATTGGGAAGGAGGGATGAGGATGCCGGACTCCCTCGGCCAGTGCAGTTGGATGAGACACACCCTTACACGGTGACTTCCGTGTCCTGTTGCCATGGAAACACCCTCCTGGCTGTTCGATGTGAGTTGTAACTTTTCCCACTTCACCACACAGCCCAGCTGGCCCCTGTCCACACTCCCATCCCCAGTGTTCACAGATGGCCACATCACCAAAAGCATCTTTAGCCCCCAGATAAAAAAAGCAGAAGCTGCGGTTGAAAAGCTTCAAGCTTCCTGCCTGGGGTGGCCAAGGCTGGTGCTTCTTGGGCCTCATGGAAGGGCTGCCTCCACTGCTCCCCAGGGCTCACATGCATTCTTTCTCCTACTGCTGAGTCCCGTTGATGCTGAAACTCTCTTTCTGGCCTAACAGGGTCCAGAATCCAGGGCCCAGTGGGAGTGGGAGGTGGGTGATGATTTCTGGAGGCACTGCCCTCAGAAGCTGCAAGGGTTTCTCTTCGGTACCCTCCAGCGGTCACAGATGAGCCGGTCCCCCCCTGAGGCACCCGGATTCACCTCTGGACCACCCTGATATTGCTTCTCCTCTGAATGCTCTGAAAAGTGCAGGTGCCCAAGGCATGACTTGCAGCTGTCTCCTGGATTGTGTCATCATGGGGTATCAGGGCTGGCAAAACCCCTGCTCTGCTTTTGGCCTTGGATATGGAAACCTCAACCACTTTGTTCTCCTACCACCTCTTTGCCCTTCCTACCCCTTCCTCCCTTCAGTCAGTGTCCCCAGGGTCCAGCCTGGCTAGAGTTAGAAGGCAGACCTAGCCTTTGGAAGCAGGGTGGCCTCCAGAGCCTTGCCATAAAAAGGCTGAAGGCAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATGGCGTAAACCCCTCCAGCCTGGGCGACAGAACCAGACTCCGTCTCAAAAAAAAAAAAAAAACAAAAAAGGCTGAAGGCAGCTGTAGCTCCACACAGACCCTACCCTTTCCCCTAGCCCAGTTAGAAAATAAGTCTGGGCCGGCGGCGGTGGCTCACACCTGCATAGGCAGTGCTTTGGCCAGGAGGATCCCTTGATCCCTTGTGGCCAGGAGTTGGGAGACCAGCCTGGGGACCATAGCGAGACCGCTGTCTCCACCAAAAAAAAAAAAAAAGAAGAAAATAAGGCTGGGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGTAGACTGAGGCCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCAGGCATGGTGACGGGCGCCTGTAATCCCAGCTACTCTGGAGGCTAAGGCAAGAGAATCCCTTGAACCCGGGAGGTGAAGTTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGATGACAGAGCAAGTCTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTATTTGGTGCTTACCGGGACTCTATCT
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TGGCTCCAGACCCTTTGCCCAGTTTCTCCTTGCTTCCTCTCCTCTCTAGCCCACCATTGTGGAGGCTTTGCTGGGCTATGAAATGGTGCAGGTGGCCTGTGGGGCCTCTCACGTGCTGGCCCTGTCCACTGAGCGAGAACTATTTGCCTGGGGCCGTGGAGACAGCGGTAAGCTCCAGCCTTTAGGCCCCATCTCACAGCATCCTCAGCCATGACTTGCTCCCCTTCATACCCACCTTCCACCTCACAGCACATTCTCTCTTCCCTCTTTTCTCTCAAATTCTCTTCATTCATTCAACAAACCTTTATTTTACACCGACTATGTGCACACCCTGTGCTGGGTGCTGAGATGAGATGGAGATGTGGCTTCCTTCAGGTGTTTATGAGGTAATGAAGGAAATTTCATTCATCCACCTAGTTTTTTATTTTATTTTGAGATGGAGTCTCGCTCTGTTACCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCACCGGGTTCAAGCGAATCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATTACAGGCACCCGCCACCGCGCCCAGCAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCATCCACTAATTTTTTTTATTGAGGTCCTCTTTGGGTCAGGCATCAGGCTGGCCACTGAAACTAGAGATGACACTGATGGGTTCTTGTCTTCCTGGAGGACTCAGTCTAGTGGGAGAAAGATGACATTGCCAGCATGCCAGAGAACAGATAGCATCAGGGCTACACCCCAGTGCAGAGGCGTGGAATTCAGTGAACAGTAATGTCAACTGGAGGAGAGAGATGTCATTTGAACAGGGCTTTAAAGGAGGAGGATTTTGAGCCGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATAAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCGGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTGAAGATCATACCCTTGTACTCCAGCCTTGGCGACAGAGTGAGACTCAGTCTCGAAAAATAAAAATAAAAAATAAAGAAGGAGGATTTTAACCAGCAGAGGGGCCTAGGAAAGGCATTTGGGACTGAGAGAACAGAGAACTCATGCTGTTCCCTCCCCTCAGTGGGCCCTCCTCATTCGGGCATCACCCCCACTAAAGCTCAAATTAACTCCTTCTGGGTTTCTTCTTGTAGGCAGACTGGGGCTAGGCACCAGGGAGTCCCACAGCTGCCCCCAGCAGGTGCCCATGCCCCCAGGACAGGAAGCTCAGCGAGTTGTATGTGGTATCGATTCCTCCATGATCCTCACTGTGCCTGGCCAAGCCCTAGCCTGTGGGAGCAACAGGTGAATAGATCATCAGGATGACTAACCTGCCCCTGGCTCTCCTTGGCTGCAAGTGCTCCGTCCATCATTGCCTACCTTTCACCAAAGACCAGAATTGAGGGGGTTGAGGGTGCTATTGGTTCAACCCAGGGTGGGATCTGTCTCCTGGTGCACCAGCTCCTGCCCAAACTGTCTGTCAGTTGGATTTGGCTTCTGGCTCTGCCCTCAGGTTCAACAAGCTGGGCCTGGACCACCTCTCCCTGGGGGAGGAGCCTGTCCCCCACCAGCAAGTGGAGGAGGCCCTGAGCTTCACACTACTAGGCTCTGCACCCCTGGACCAGGAGCCTCTGCTGAGTATAGACCTGGGCACTGCTCACTCAGCTGCTGTGACTGGTGAGGAGGACTTGGGCTCTGGAGGTCAGAGGGGGACTCACGGTCTCCTTGGTACCCTGTTGAAGCACCCCTTTCCTTCCTCTCCCCCATAGCCTCGAGTGATTGCTACACTTTTGGCAGCAATCAGCACGGACAGTTGGGCACCAATACTCGCCGAGGCAGTCGGGCACCCTGTAAGGTCCAAGGCCTTGAGGGCATCAAGATGGCAATGGTAGCCTGTGGGGATGCCTTCACTGTAGCTATTGGGGCAGGTGAGGACTGAGCATGGTGGGGGCAGACAGTGCCATGAGCAGTGGGGGGTGGGGGTTGCTATTCAGGGCCACTGGACTCTGGAGCCTCCCAGGGGCCATCCTGGCAATGTGGGAGGGGAGATCCTGCTCGGGCTGTGCCCACTTCCCACTTCCCTCCTGGGGATTCTTCCTGGCAGAGAGCGAAGTGTACTCTTGGGGCAAAGGGGCGCGAGGTCGATTGGGAAGGAGGGATGAGGATGCCGGACTCCCTCGGCCAGTGCAGTTGGATGAGACACACCCTTACACGGTGACTTCCGTGTCCTGTTGCCATGGAAACACCCTCCTGGCTGTTCGATGTGAGTTGTAACTTTTCCCACTTCACCACACAGCCCAGCTGGCCCCTGTCCACACTCCCATCCCCAGTGTTCACAGATGGCCACATCACCAAAAGCATCTTTAGCCCCCAGATAAAAAAAGCAGAAGCTGCGGTTGAAAAGCTTCAAGCTTCCTGCCTGGGGTGGCCAAGGCTGGTGCTTCTTGGGCCTCATGGAAGGGCTGCCTCCACTGCTCCCCAGGGCTCACATGCATTCTTTCTCCTACTGCTGAGTCCCGTTGATGCTGAAACTCTCTTTCTGGCCTAACAGGGTCCAGAATCCAGGGCCCAGTGGGAGTGGGAGGTGGGTGATGATTTCTGGAGGCACTGCCCTCAGAAGCTGCAAGGGTTTCTCTTCGGTACCCTCCAGCGGTCACAGATGAGCCGGTCCCCCCCTGAGGCACCCGGATTCACCTCTGGACCACCCTGATATTGCTTCTCCTCTGAATGCTCTGAAAAGTGCAGGTGCCCAAGGCATGACTTGCAGCTGTCTCCTGGATTGTGTCATCATGGGGTATCAGGGCTGGCAAAACCCCTGCTCTGCTTTTGGCCTTGGATATGGAAACCTCAACCACTTTGTTCTCCTACCACCTCTTTGCCCTTCCTACCCCTTCCTCCCTTCAGTCAGTGTCCCCAGGGTCCAGCCTGGCTAGAGTTAGAAGGCAGACCTAGCCTTTGGAAGCAGGGTGGCCTCCAGAGCCTTGCCATAAAAAGGCTGAAGGCAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATGGCGTAAACCCCTCCAGCCTGGGCGACAGAACCAGACTCCGTCTCAAAAAAAAAAAAAAAACAAAAAAGGCTGAAGGCAGCTGTAGCTCCACACAGACCCTACCCTTTCCCCTAGCCCAGTTAGAAAATAAGTCTGGGCCGGCGGCGGTGGCTCACACCTGCATAGGCAGTGCTTTGGCCAGGAGGATCCCTTGATCCCTTGTGGCCAGGAGTTGGGAGACCAGCCTGGGGACCATAGCGAGACCGCTGTCTCCACCAAAAAAAAAAAAAAAGAAGAAAATAAGGCTGGGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGTAGACTGAGGCCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCAGGCATGGTGACGGGCGCCTGTAATCCCAGCTACTCTGGAGGCTAAGGCAAGAGAATCCCTTGAACCCGGGAGGTGAAGTTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGATGACAGAGCAAGTCTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTATTTGGTGCTTACCGGGACTCTATCT
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Task1_train_23894
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Consider this mutation in ERAL1, LOC126862526 (Era like 12S mitochondrial rRNA chaperone 1| BRD4-independent group 4 enhancer GRCh37_chr17:27185111-27186310) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; Perrault syndrome 6
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TTCTTGCCATGCCTTCAAGGATGGTCTTGGAGGGATCTGGGACCTCACTGAGACTCCTTTGTTCCTGGCAGGTGTTCCCTGTTTCCAGGAAGGTGCATACTACTCGCTGCCAAGCTCTGGGGGTCATCACAGAGAAGGAGACCCAGGTGGTGGGTACCTACAAAGGGAGTCCTTGAAACAGGACAGAGGGTGAAGCTAAGAGGGTCTCCCTTACCATCAGCCTTGAAGAAAATGATGGTCACATTCATTTATGTGAGGAAAGGGGGTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGACGCGATCTTGGCTCACTGCAAGCTCCACCTCCCAGGTTGACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTCTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCGCGTGATCCGCCTGCCTCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCAGGAAAGGGGGTTTCCTCTTCCTTTAGGCATGGTACAGTTCTGTCTCTACCTTGCCCTCCCCTGACATCTAGTCAGAAAGATTTCATTCTCTCGCTCTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTTCAATGGCATGATCTCAGCTCACTACAACCTCTGCCTCCCGGGTTTAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCCACCACGCCCGGCTACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCGATTTCATTCTCTGTTTACTGCTTCCTAATCTTCCTTATATTCACAGTCATCATCTTTCTCCCAGATCCCATCAAAGCAGAATGGTAGAAACCTAAGGTCAGCCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGCGGATCACTTGAGATCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAGAAAAAAACAAAAAACAAACCTAAAGTCAATAATAGTTTGACTGAGAAGGGAGGGCAGGCTCCTGACATCACAGGTAGCCTCTCTCTGACTTCCCAGTCATAATCTTTTCTCCTGGGGTCTGGGTATCTCACTTTCCTGATTTTAGATTCTACTTGACACACCTGGCATTATCAGTCCTGGTAAACAGAAGAGGTAATGGTGGTGGAATTGGGGTGGATTGGCGGGGAGGTACTGAAAGAGGGTGGGGAGATTCCATTATAGGGGCTGGAAAACCCCTTTACCATACCACATCCCTCATCAGAAATGCCTTAGTCATAAGACCTTTCCTGACTGATGTATGTCTGTCCCTCAGGCATCACCTGGAGCTCTCTTTGTTGGAAGATCCATGGAAGAGCATGGAATCTGCTGATCTTGGTTAGGTTCAGGATGGGAACCTTAAGCCCAGTTTACAGGGGTCATGGCCTTTCATTCCTTGGTAGTTTGGGGGGCAAAAGCCAAGCTCATACCATGGAAGTTTTTGTCAGGGCAGGAGGAAGAGTGACCATTTCCTTTTCCTTCTTCCTGCCTTGCCATCTTCTAGTTGTGGTTCTTGTGGATGTCTCAGACAAGTGGACACGGAACCAGCTCAGCCCCCAGTTGCTCAGGTGCTTGACCAAGTACTCCCAGATCCCTAGTGTCCTGGTCATGAACAAGGTGAGCACTACCCACCTGAGGAAGGGGTCTACTTCCCTCCAAGTCCCCTATCTCTGACCACACACCCTTTGCCCATCCCCCATGTCCAGGTAGATTGTTTGAAGCAGAAGTCAGTTCTCCTGGAGCTCACGGCAGCCCTCACTGAAGGTGTGGTCAATGGCAAAAAGCTCAAGATGAGGCAGGCCTTCCACTCACACCCTGGCACCCATTGCCCCAGCCCAGCAGTTAAGGACCCAAACACACAATCTGTGGGAAATCCTCAGAGGATTGGCTGGCCCCACTTCAAGGAGATCTTCATGTTGTCAGCCCTAAGCCAGGAGGACGTGAAAACACTAAAGGTCAGTTAGTCTTGGCCATAGCCTGGCCCTTGGTTTCTACCATATGAAGACAGCCCTCAAATTTCCTCCTGGAAGCAAAAGTGAGGAGAAAAGTCCTGGTTGGGATTAAGATGCCCATCTATTCCCTCTGTTCCCACAGCAATACCTTCTGACACAGGCCCAGCCAGGGCCCTGGGAGTACCACAGTGCAGTCCTCACTAGCCAGACACCAGAAGAGATCTGTGCCAACATTATCCGAGAGAAGCTCCTAGAACACCTGCCCCAGGAGGTGCCTTACAATGTACAGCAGGTACAGAGTGAAGGGTTCTGGGGGCTCTCTATCAGACACACACCTCTACCCAGGTGTATGACTGACTAATCATTTGTCTCCCTGTACAGAAGACAGCAGTGTGGGAGGAAGGACCAGGTGGGGAGCTGGTTATCCAACAGAAGCTTCTGGTGCCCAAAGAATCTTATGTGGTAAGTGAGACTAGGCTCAGAGGAGAGATCAAGACTATGTTAGGCAGGAGTTCTTCCCCCAGCTTGGAGCCCTGAGAGCAGGACCATATCCTTCTCTCTTTTTTTCTTCTTCTTTTCTTTTTTTTGAGACAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCACAGTTCACTGCAGCCTTGACTTCCCACGCTCAAGCAATCCTCCCGCCTCAGCCCCCTGAGGAGCTGAGACCAGCTGATTATAATTTTCTTTTTTTTTTTTTGAGACAAAGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGAAGCTGGGATTACAGGTGCCCACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGCTTCGAACGCTTGACCTCAAATTGTCCGCCCACCTCAGCCTCCCAAAGTGCCGCCTGACTATCCGCTAATTTAAAAAAATTTTTTTGTAGAGAAGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAATTCCTGGGCTCAAGCAGTCCATGCACCTTGGCCTCCGAAAGTGCTGGGATTAATATGCGTGAGCCACCACATCTAACCCTCTCTTTTTTTTATTTTTTTATTTTTTTTTTGAGCCAGGTTCTTGCTCTGTCACTCAGGCTGGGGTGCAGAGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGTGCCCGCCACCATGTCCAGCTAATTTTTTGTGTTTTTAGTAGAGACAGCATTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCACCCTCTCTTTTTTTTAAAGAGGGGTCGCACTGTTACCCAGGCTGGACTCAAACTCCTGTGCTCAAAGGATCTTCTCACCTTAGCCCCCCAAGTAGCTGGGACTACAGGCATGTGCCATCATTCCTGGCTTCCTTCTCTTTCACATACCCTCAGAAACTCCTGATTGGTCCGAAGGGCCACGTGATCTCCCAGATAGCACAGGAGGCAGGCCATGACCTCATGGACATCTTCCTCTGCGATGTTGACATCCGC
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TTCTTGCCATGCCTTCAAGGATGGTCTTGGAGGGATCTGGGACCTCACTGAGACTCCTTTGTTCCTGGCAGGTGTTCCCTGTTTCCAGGAAGGTGCATACTACTCGCTGCCAAGCTCTGGGGGTCATCACAGAGAAGGAGACCCAGGTGGTGGGTACCTACAAAGGGAGTCCTTGAAACAGGACAGAGGGTGAAGCTAAGAGGGTCTCCCTTACCATCAGCCTTGAAGAAAATGATGGTCACATTCATTTATGTGAGGAAAGGGGGTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGACGCGATCTTGGCTCACTGCAAGCTCCACCTCCCAGGTTGACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTCTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCGCGTGATCCGCCTGCCTCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCAGGAAAGGGGGTTTCCTCTTCCTTTAGGCATGGTACAGTTCTGTCTCTACCTTGCCCTCCCCTGACATCTAGTCAGAAAGATTTCATTCTCTCGCTCTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTTCAATGGCATGATCTCAGCTCACTACAACCTCTGCCTCCCGGGTTTAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCCACCACGCCCGGCTACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCGATTTCATTCTCTGTTTACTGCTTCCTAATCTTCCTTATATTCACAGTCATCATCTTTCTCCCAGATCCCATCAAAGCAGAATGGTAGAAACCTAAGGTCAGCCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGCGGATCACTTGAGATCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAGAAAAAAACAAAAAACAAACCTAAAGTCAATAATAGTTTGACTGAGAAGGGAGGGCAGGCTCCTGACATCACAGGTAGCCTCTCTCTGACTTCCCAGTCATAATCTTTTCTCCTGGGGTCTGGGTATCTCACTTTCCTGATTTTAGATTCTACTTGACACACCTGGCATTATCAGTCCTGGTAAACAGAAGAGGTAATGGTGGTGGAATTGGGGTGGATTGGCGGGGAGGTACTGAAAGAGGGTGGGGAGATTCCATTATAGGGGCTGGAAAACCCCTTTACCATACCACATCCCTCATCAGAAATGCCTTAGTCATAAGACCTTTCCTGACTGATGTATGTCTGTCCCTCAGGCATCACCTGGAGCTCTCTTTGTTGGAAGATCCATGGAAGAGCATGGAATCTGCTGATCTTGGTTAGGTTCAGGATGGGAACCTTAAGCCCAGTTTACAGGGGTCATGGCCTTTCATTCCTTGGTAGTTTGGGGGGCAAAAGCCAAGCTCATACCATGGAAGTTTTTGTCAGGGCAGGAGGAAGAGTGACCATTTCCTTTTCCTTCTTCCTGCCTTGCCATCTTCTAGTTGTGGTTCTTGTGGATGTCTCAGACAAGTGGACACGGAACCAGCTCAGCCCCCAGTTGCTCAGGTGCTTGACCAAGTACTCCCAGATCCCTAGTGTCCTGGTCATGATCAAGGTGAGCACTACCCACCTGAGGAAGGGGTCTACTTCCCTCCAAGTCCCCTATCTCTGACCACACACCCTTTGCCCATCCCCCATGTCCAGGTAGATTGTTTGAAGCAGAAGTCAGTTCTCCTGGAGCTCACGGCAGCCCTCACTGAAGGTGTGGTCAATGGCAAAAAGCTCAAGATGAGGCAGGCCTTCCACTCACACCCTGGCACCCATTGCCCCAGCCCAGCAGTTAAGGACCCAAACACACAATCTGTGGGAAATCCTCAGAGGATTGGCTGGCCCCACTTCAAGGAGATCTTCATGTTGTCAGCCCTAAGCCAGGAGGACGTGAAAACACTAAAGGTCAGTTAGTCTTGGCCATAGCCTGGCCCTTGGTTTCTACCATATGAAGACAGCCCTCAAATTTCCTCCTGGAAGCAAAAGTGAGGAGAAAAGTCCTGGTTGGGATTAAGATGCCCATCTATTCCCTCTGTTCCCACAGCAATACCTTCTGACACAGGCCCAGCCAGGGCCCTGGGAGTACCACAGTGCAGTCCTCACTAGCCAGACACCAGAAGAGATCTGTGCCAACATTATCCGAGAGAAGCTCCTAGAACACCTGCCCCAGGAGGTGCCTTACAATGTACAGCAGGTACAGAGTGAAGGGTTCTGGGGGCTCTCTATCAGACACACACCTCTACCCAGGTGTATGACTGACTAATCATTTGTCTCCCTGTACAGAAGACAGCAGTGTGGGAGGAAGGACCAGGTGGGGAGCTGGTTATCCAACAGAAGCTTCTGGTGCCCAAAGAATCTTATGTGGTAAGTGAGACTAGGCTCAGAGGAGAGATCAAGACTATGTTAGGCAGGAGTTCTTCCCCCAGCTTGGAGCCCTGAGAGCAGGACCATATCCTTCTCTCTTTTTTTCTTCTTCTTTTCTTTTTTTTGAGACAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCACAGTTCACTGCAGCCTTGACTTCCCACGCTCAAGCAATCCTCCCGCCTCAGCCCCCTGAGGAGCTGAGACCAGCTGATTATAATTTTCTTTTTTTTTTTTTGAGACAAAGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGAAGCTGGGATTACAGGTGCCCACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGCTTCGAACGCTTGACCTCAAATTGTCCGCCCACCTCAGCCTCCCAAAGTGCCGCCTGACTATCCGCTAATTTAAAAAAATTTTTTTGTAGAGAAGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAATTCCTGGGCTCAAGCAGTCCATGCACCTTGGCCTCCGAAAGTGCTGGGATTAATATGCGTGAGCCACCACATCTAACCCTCTCTTTTTTTTATTTTTTTATTTTTTTTTTGAGCCAGGTTCTTGCTCTGTCACTCAGGCTGGGGTGCAGAGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGTGCCCGCCACCATGTCCAGCTAATTTTTTGTGTTTTTAGTAGAGACAGCATTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCACCCTCTCTTTTTTTTAAAGAGGGGTCGCACTGTTACCCAGGCTGGACTCAAACTCCTGTGCTCAAAGGATCTTCTCACCTTAGCCCCCCAAGTAGCTGGGACTACAGGCATGTGCCATCATTCCTGGCTTCCTTCTCTTTCACATACCCTCAGAAACTCCTGATTGGTCCGAAGGGCCACGTGATCTCCCAGATAGCACAGGAGGCAGGCCATGACCTCATGGACATCTTCCTCTGCGATGTTGACATCCGC
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Task1_train_23895
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This mutation is located in gene TAOK1 (TAO kinase 1) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Developmental delay with or without intellectual impairment or behavioral abnormalities
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TTTTACTTTTTTTGATAGCCATGTTTGTCAAGTAGAATGTAGACTTCTCAGTAAATTCACACAATATCATTAAAATATGTCCAGGTAGTCTGCAGTGAGGCATTATTTATCATAGCTACCCTCTTCTCCCTTTTCACAAAAAAAGAACATTCTTATAGTAGTAGGGACCCTGACAAAATAATTTATAGTATAAATACATACTTGATTTTGAAATAATTTGATGAAACAATGTATACATATTTAAAATCCTCTGGGCATTGGATATTTTCATTTTTTTATTTTTTATTTTATTTTTATTATTTTTTGAGACAGAATCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCTCTCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGTGCATCTACCATGCCTGGCTAATTTTTCATCTACCATGCCTGGCTAATTTTTGTATTATTTTTATTTTAGTAGAAAAGGGGTTTCACCATGTTAATCAGGCTGGTCTCAAATCCCTGACCTCAGGTGACCTTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGATGTGAGCCACCACACTTGATAGATATTATTTTTAATAGCTTGGGAAAAGGCGATACTAACATATTTAGGAAAACAATTCCTGAAGCAGATATGCAATGTGGTAACAAATTTGTTTTAAAAGTATATAACCAGGATGGGTGCAGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCCGAGGTGAGAAGATTACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGGAAGACTCTGTCTCCACACACAAAAAAAATAAATTAGCTGAGCAGGGTGGCATACGCCTTTAGTTCCAGCTACTCAGGAGGCTGAGGTGGGAAGATCACTTGAGCTCAGGAGGAGGCTGCAATGAGCCATGATTGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTAACATATTTTTTGAGACAGGCACTCGCCCTGTTACCCAGCTGGTCTTGAACTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCTCAAAGTGTTGGGATTACAGGTATGAGCCACAATACCTACTTAATTATATACATGCAAATATATGTGTGTATGTGTATGTGTGTGTGTTTGAGACATGAACATTTATAGAAAAAATTAGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCAAGACCAGCTTGGCCAACATGGCAAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCAGGCGTGGTGTCACACACCCGTAGTCACAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAAGCGGAGGTTGCAGTGAGCCGAGCTCGTGCCACTGCACTGCAGCCAGGGTAACAGAGCAAGACTCCATCTCAAAAATAATAATTTTAAAAAAAGAAAAAATTGCAAAAGATATGCACCAAAATGTTTACATTGGTTATCTCTGGATGCCAAAATTATGTAAGATGTTTCTTGTTTTTCTGTATTTTGTAAATATTCTACAATGAACATGTATTGCATATAGAATCAGAAATAAAATATAGCATTTGTTTTGTTTTACTGAGGGATTGAGGGTTGGGAGGAAGGTATACTTCTGTTAAATGAAATAAAAAGTTGACAACATTTTTGACCCTGTAAGAGATCAACATTTCAAAGATGAGTTTCATCTTACTGATTCTATGAAGTTCAAATTATAAGGATGCCAAGTAGCACATGTTTATAATTTGGTTCAGTCTTTTATTTTGGTAATGTTTCTAATGATTTCTTGTTCTTAGAAAATAAAAGGTATTCTTAATGATGTATATTAAACCACTACTTTATCTACTTAACTAAATTTGATTCATTTTTTAAACTTCATATAGGCTAAAGTGATGTCCAATGAAGAGAAAAAATTTCAGCAACATATTCAGGCCCAACAGAAGAAAGAACTGAATAGTTTTCTCGAGTCCCAGAAAAGAGAGTATAAACTTCGAAAAGAGCAGCTTAAAGAGGTACTTATGTCATAAAACTTTCCAAGCAAATTTTCTGCTTATTAATTATATCCAATGGTGACCAACTCATAGAAGCATTAGGATAAAATTATCTTTTGTTGTTTATGGTCACTAAATGGGTATTAGTTTAAATGATGACATTGATTATAATCAGTTACCCTTAACTGAGTCATTTAGTTGAGTAGGATTTAAAATGAATCATTTCCTGAAAATATACTTTTTTTATGTTTTTATTTTATATTTATTTATTTATTTTTGAGACAAAGAGTCTCGCTCTGTCACCCAGGCTCGAGTGCAGTGGCGCGCTCTCGGCTCACTTCAAGCTCTGCCTACTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCGCCCACCACCACACCCGGCAAACATTTGGTATTTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCATCGTGCCTGGCCTTATGTTTTTATTTTTTGTGTGTATTTTTTGAGACAGTCTTATTCTGTTCCACGGGCTGGAGTGCAGTGGCACAATCATAGCTCACTGCAGCTTCGACCTCCCGTGCTCAAGCAATCCTGCTTTAGCCTTCCAAGTAGCTGGGAACACAAGCACACACCACCACTCCTGGCTGATTTTTAAATTTATTTTTTGTAGAGACAGGGTCTTGCCATGTTGCCTAGTCTGGTCTCAAACTCCTGGGCTCAAGCAGTCCGCCTACCTCGGCTTCCCAAAGTGCTGGGATTATAGGCATAAGCCACCGCACCTGATCACATTTATTACTTTAAAAGTAAACAATAATGTCTTACTTTTGGATCAGAAGATTATAATAATTTGTTTTTATGCCAATTTAAATGTAGAATAAGGGAGATATTTGCTTATCAGGTTTTTTTTAAGTAGAATATGCTGATTATTTCTTTGTGGCTACAGGGTTTCATATTTGTTTGCCCTTTCTTGTGCTGCCCGGCCTCCCCCCTACCCCCCGCTTTTTTTTTGAGACGGAAGTCTCACTCTGTCATACAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAGCCTCCCCTCCCCCCAGGTTGAAAGGATTCTCCTGCCTCAACCCCCCCGAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCTGGCTAATTTGTATATATTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTTTCAAACTCCTGACCTCAGACAATCTACCCACCTCGGCCCCCCAAAGTGCTGGGATTACAAGAGTTAGCCACCACTCCCGGCTCTTGTGCTGCTTTTTGTTTGTTTGGTTTGGTTTGGTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGGGTGCAGTGGCATGATCTCGGCTCACTGCAACCTTTGCCGCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCCGGCATTACAGGCGACTGCCACCACGCCTGGCTGATTTTTGTATTTTTAGTAGAGATGAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAGCTCCTGACCTTGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGTGTGAGCCACAACATCCAGCTGACAACTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACACCATTCTCCTGCCTCCGGCTCCCGAGTAGCTGGGACTACAGGGACCCACCACCACGCCCGGCTAATTTTTTGTATTTTTGGTAGAGACTGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCTCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTG
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TTTTACTTTTTTTGATAGCCATGTTTGTCAAGTAGAATGTAGACTTCTCAGTAAATTCACACAATATCATTAAAATATGTCCAGGTAGTCTGCAGTGAGGCATTATTTATCATAGCTACCCTCTTCTCCCTTTTCACAAAAAAAGAACATTCTTATAGTAGTAGGGACCCTGACAAAATAATTTATAGTATAAATACATACTTGATTTTGAAATAATTTGATGAAACAATGTATACATATTTAAAATCCTCTGGGCATTGGATATTTTCATTTTTTTATTTTTTATTTTATTTTTATTATTTTTTGAGACAGAATCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCTCTCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGTGCATCTACCATGCCTGGCTAATTTTTCATCTACCATGCCTGGCTAATTTTTGTATTATTTTTATTTTAGTAGAAAAGGGGTTTCACCATGTTAATCAGGCTGGTCTCAAATCCCTGACCTCAGGTGACCTTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGATGTGAGCCACCACACTTGATAGATATTATTTTTAATAGCTTGGGAAAAGGCGATACTAACATATTTAGGAAAACAATTCCTGAAGCAGATATGCAATGTGGTAACAAATTTGTTTTAAAAGTATATAACCAGGATGGGTGCAGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCCGAGGTGAGAAGATTACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGGAAGACTCTGTCTCCACACACAAAAAAAATAAATTAGCTGAGCAGGGTGGCATACGCCTTTAGTTCCAGCTACTCAGGAGGCTGAGGTGGGAAGATCACTTGAGCTCAGGAGGAGGCTGCAATGAGCCATGATTGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTAACATATTTTTTGAGACAGGCACTCGCCCTGTTACCCAGCTGGTCTTGAACTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCTCAAAGTGTTGGGATTACAGGTATGAGCCACAATACCTACTTAATTATATACATGCAAATATATGTGTGTATGTGTATGTGTGTGTGTTTGAGACATGAACATTTATAGAAAAAATTAGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCAAGACCAGCTTGGCCAACATGGCAAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCAGGCGTGGTGTCACACACCCGTAGTCACAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAAGCGGAGGTTGCAGTGAGCCGAGCTCGTGCCACTGCACTGCAGCCAGGGTAACAGAGCAAGACTCCATCTCAAAAATAATAATTTTAAAAAAAGAAAAAATTGCAAAAGATATGCACCAAAATGTTTACATTGGTTATCTCTGGATGCCAAAATTATGTAAGATGTTTCTTGTTTTTCTGTATTTTGTAAATATTCTACAATGAACATGTATTGCATATAGAATCAGAAATAAAATATAGCATTTGTTTTGTTTTACTGAGGGATTGAGGGTTGGGAGGAAGGTATACTTCTGTTAAATGAAATAAAAAGTTGACAACATTTTTGACCCTGTAAGAGATCAACATTTCAAAGATGAGTTTCATCTTACTGATTCTATGAAGTTCAAATTATAAGGATGCCAAGTAGCACATGTTTATAATTTGGTTCAGTCTTTTATTTTGGTAATGTTTCTAATGATTTCTTGTTCTTAGAAAATAAAAGGTATTCTTAATGATGTATATTAAACCACTACTTTATCTACTTAACTAAATTTGATTCATTTTTTAAACTTCATATAGGCTAAAGTGATGTCCAATGAAGAGAAAAAATTTCAGCAACATATTCAGGCCCAACAGAAGAAAGAACCGAATAGTTTTCTCGAGTCCCAGAAAAGAGAGTATAAACTTCGAAAAGAGCAGCTTAAAGAGGTACTTATGTCATAAAACTTTCCAAGCAAATTTTCTGCTTATTAATTATATCCAATGGTGACCAACTCATAGAAGCATTAGGATAAAATTATCTTTTGTTGTTTATGGTCACTAAATGGGTATTAGTTTAAATGATGACATTGATTATAATCAGTTACCCTTAACTGAGTCATTTAGTTGAGTAGGATTTAAAATGAATCATTTCCTGAAAATATACTTTTTTTATGTTTTTATTTTATATTTATTTATTTATTTTTGAGACAAAGAGTCTCGCTCTGTCACCCAGGCTCGAGTGCAGTGGCGCGCTCTCGGCTCACTTCAAGCTCTGCCTACTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCGCCCACCACCACACCCGGCAAACATTTGGTATTTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCATCGTGCCTGGCCTTATGTTTTTATTTTTTGTGTGTATTTTTTGAGACAGTCTTATTCTGTTCCACGGGCTGGAGTGCAGTGGCACAATCATAGCTCACTGCAGCTTCGACCTCCCGTGCTCAAGCAATCCTGCTTTAGCCTTCCAAGTAGCTGGGAACACAAGCACACACCACCACTCCTGGCTGATTTTTAAATTTATTTTTTGTAGAGACAGGGTCTTGCCATGTTGCCTAGTCTGGTCTCAAACTCCTGGGCTCAAGCAGTCCGCCTACCTCGGCTTCCCAAAGTGCTGGGATTATAGGCATAAGCCACCGCACCTGATCACATTTATTACTTTAAAAGTAAACAATAATGTCTTACTTTTGGATCAGAAGATTATAATAATTTGTTTTTATGCCAATTTAAATGTAGAATAAGGGAGATATTTGCTTATCAGGTTTTTTTTAAGTAGAATATGCTGATTATTTCTTTGTGGCTACAGGGTTTCATATTTGTTTGCCCTTTCTTGTGCTGCCCGGCCTCCCCCCTACCCCCCGCTTTTTTTTTGAGACGGAAGTCTCACTCTGTCATACAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAGCCTCCCCTCCCCCCAGGTTGAAAGGATTCTCCTGCCTCAACCCCCCCGAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCTGGCTAATTTGTATATATTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTTTCAAACTCCTGACCTCAGACAATCTACCCACCTCGGCCCCCCAAAGTGCTGGGATTACAAGAGTTAGCCACCACTCCCGGCTCTTGTGCTGCTTTTTGTTTGTTTGGTTTGGTTTGGTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGGGTGCAGTGGCATGATCTCGGCTCACTGCAACCTTTGCCGCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCCGGCATTACAGGCGACTGCCACCACGCCTGGCTGATTTTTGTATTTTTAGTAGAGATGAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAGCTCCTGACCTTGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGTGTGAGCCACAACATCCAGCTGACAACTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACACCATTCTCCTGCCTCCGGCTCCCGAGTAGCTGGGACTACAGGGACCCACCACCACGCCCGGCTAATTTTTTGTATTTTTGGTAGAGACTGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCTCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTG
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Task1_train_23896
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This gene mutation involves LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Neurofibromatosis, type 1
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GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTCAACCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCTCTGCACTCCAGCCTGGGTGACAGGGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAATTAGTCATTCCAAAGTCCAATGTCAGACATAGATTATCCGTTGTTTTGGATGTAATCCTCTTCCTGGAAAACTGGCACAACCCAATTACACATGAAATCCTTTCAACTCTGGTATTGGAGGTATAGGGAAGGACTTTGTTTTAGGAGACCCATAGTCTACCTCTATTGTTCTAGGAGTTAAACCACGTTGGTTTACATCCTGACTTTGCCACCTGTCAACTCAGACCTTGGGCAAATCAAAGGTCTGAGGGAGGAGTGCAGGCTCCCAGCGTTCCCACGGGGGTGGGGACGTGACGTATTCATCAGTTCATGAAGTTAATGATATGTATTGAAAAGGTTTGTTCAAGGATTTAAATAAGACGATGAATATATTGAATTAATAATGAATGCAAGGCCTTAAAGGTGTTTTGAGGGTGGTGAAACTTGAATCTCTCATCAACTGTGCAATAGTTATATTAACTTGGATGGCTATGAGTTTTGCAGAGGAAAGCTGGGCTTAAATCCCAATGCTAGACCTGGTGGCTAGACCTTGATTGCCACCGGGTCTAGCATTGGGATTTAAGCGACCTCTAAAAAAAAAAAATCACGGAATCTCTCTTTGGCCTTCCTTTTTTGTTTCTCAGCAGTCTACCAAGCTACGAAGAACCTGAAAATCGGAGGTCGTGTACCTTATTTTTTCTGAGAGCTTAAGCTGAGAGCACAGCCTCCCCAGGAGATTAGCGGCAGAGATCCGCGCGCTGGGAGAAAGGCTAGCCCCAGGGCGCCCTAACTTCCAACTCCGGGAGCAATCCAAACCCGGAGGCCGGCGGGGGAGGGGACAGCTGTAGGGGGCGGTGGGGATGGGAGTGGATGCTCCCGGGTCAGCTCTGGCACTCGCCAGCTGAGCCCAGCGCCAGTCTAGGTGAGCCCCACGGCGGTGAGGGACGCTCGCCAGACGGCCCAGAGGAGTTAGATGACGTCACCTCCAGGAGGACTCGCTTTTTCATTAATGAAACCGGCCGGCGCGGGCGCATGCGCGGCAGGCCGCCTTCCCTCTCGCTTCCCCCTCCCCTTTCCCAGCCGCGCTCTCAATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGGTAACCGGCCCGTGGCGGGCGGGAGGTGGGAGCGGAGTGGGGGTGGGGACAGAGTAGGTGAGGGGAGGTAGGAGCGGCCGCCTCCCCCGCGGCTGCCTCAGGCTCTGGAGGAAAGGAAGGGAAGGGAAGAGAAGGGAAGGGGGGATAAGTGGGGGTGGCCAAGGCGGGAGGTGAGGGGTAGGAGGGGACAGCTGGGAGCTTGGGCACCCTTTCCCTCCTAAGTCGGGGGGTGGGGCCTTGTCCCTGACCAGCCTCCGACCCTCCATCCCCTTTATCCCAGCCCTTCCGCTTGGAAATGGGGATGAGTGACCTGGGGGCGCCTTTAGGGGCGCGCCATCTGGATTTAATAATTACCCCCTTACTTTTGTTTTTGAGCAGAGGTGGGTAACGTTTAGGGGTTCTCTCTTCCTCTTCCCTCCGTGACCCTCCTAACTGGGGACGAGCGAACCCTAAGGCCTGTCTTATATACCCTCAATAGGAGAACGATAACATTCCGCCCCTCCCCCAGTTTCTTCAGCTTCCTCTCCTGGAGGGGGAAGAGCAGAAGAAAGCAAGGAAGGCACAGGTTTTCTTACTTTCTGCTCCATCGTCTCATCCTGCCCCGAGAGCTTCAAGTGCACACTCACTGCACATCTTTGTGATGCCCTACAACGTCGTCCCCCATATCCTGATGACACAGACTGCCTTTTTTTTTTATTGCCGTTTGCAGTGGAAACCGTGGTTCTGAAATATCTTCCCCTTCCTTGATAATTGCAGTCTCTTCCCCCCCCCCTTTTTTTTTTGCCAGCGGTCTGAGGATGTGATGCATTCTCGAGTGAGAATGTTGGGGAGTAAAGGGGAGAAGGGTGAAAGGAAAGTGAGAAACTGCTTCAGAGCCACCGACAACAGAGCAAAGCCAGCTGGGATGTGGTCCTGGAGCGGATCATTCTGCTAGTGTTTGTGGTTGTTTTTGACTCTCTCCTGGTTGACAAGAGAACTTTCATTGAGAATATTTGGGATGAAAAAAAAGTTTTGTAGCTTGAGGAGGTGACTTTTTATCGCCTGAGTTTCACACAATAAATCCTGGGGCTGATTAGAATAAATGCACACATAGCCTTTTGTCAGTGGAAATTGGTTTAACTTTGTGTTGCTGTAGGTAGTTGGGGATGGTTTAAGGGATGCTTTCTGCAGCTGTGGGTGCAGTGGGCTTCCTGTGATGGGGGAATTGTTTAAGATTGAGTCAACCTATTTTGTTTACTGGATATAATGGTAAAACATTATGGGAGCTGAAGGGGTGGGGGAAGAGCTCTTCTGTTATTTGATGCATAAACATTTCTTTACGGGACTCAGCGTTTCAGACCTACCTGGAAAATATCTTGGAATAGACAGAGGAAGTTGAGAAGAAGCTATGTAGATAAAATAGAGTTATGAAGCTGTCAGAGACTTGAAGGAATTGTTTTATCCATTCGTATGCTTCCAGACCCAAAGGCATCTAAACTAAACTACTAATCCATCTGAAGTATAATGTTACTGCATATAAAAGATTACATTATTGATAGAGCGTTAGATTTAAAACTTGGTAGAAAAGACTCTGTAATTTTAAGAAAGGATTTAAAAGGCACATAGAAGACTTCCAAAGCTGAACCTTGTGGACAGCAGAATCTGGATGTAGGAAATTGAAGGATCCACGCCGCAATTCTCCTTAAATTTTAAAAATTAAAAATTTTTTTCAGTTTTTTCTTAATTTTATTTTTTTACTTCTTACCTGTTCATCTCTAGGCTTATTTGCCATATTGGAAAAAGATACTTAAGAGAGGAATGATTTTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGC
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GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTCAACCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCTCTGCACTCCAGCCTGGGTGACAGGGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAATTAGTCATTCCAAAGTCCAATGTCAGACATAGATTATCCGTTGTTTTGGATGTAATCCTCTTCCTGGAAAACTGGCACAACCCAATTACACATGAAATCCTTTCAACTCTGGTATTGGAGGTATAGGGAAGGACTTTGTTTTAGGAGACCCATAGTCTACCTCTATTGTTCTAGGAGTTAAACCACGTTGGTTTACATCCTGACTTTGCCACCTGTCAACTCAGACCTTGGGCAAATCAAAGGTCTGAGGGAGGAGTGCAGGCTCCCAGCGTTCCCACGGGGGTGGGGACGTGACGTATTCATCAGTTCATGAAGTTAATGATATGTATTGAAAAGGTTTGTTCAAGGATTTAAATAAGACGATGAATATATTGAATTAATAATGAATGCAAGGCCTTAAAGGTGTTTTGAGGGTGGTGAAACTTGAATCTCTCATCAACTGTGCAATAGTTATATTAACTTGGATGGCTATGAGTTTTGCAGAGGAAAGCTGGGCTTAAATCCCAATGCTAGACCTGGTGGCTAGACCTTGATTGCCACCGGGTCTAGCATTGGGATTTAAGCGACCTCTAAAAAAAAAAAATCACGGAATCTCTCTTTGGCCTTCCTTTTTTGTTTCTCAGCAGTCTACCAAGCTACGAAGAACCTGAAAATCGGAGGTCGTGTACCTTATTTTTTCTGAGAGCTTAAGCTGAGAGCACAGCCTCCCCAGGAGATTAGCGGCAGAGATCCGCGCGCTGGGAGAAAGGCTAGCCCCAGGGCGCCCTAACTTCCAACTCCGGGAGCAATCCAAACCCGGAGGCCGGCGGGGGAGGGGACAGCTGTAGGGGGCGGTGGGGATGGGAGTGGATGCTCCCGGGTCAGCTCTGGCACTCGCCAGCTGAGCCCAGCGCCAGTCTAGGTGAGCCCCACGGCGGTGAGGGACGCTCGCCAGACGGCCCAGAGGAGTTAGATGACGTCACCTCCAGGAGGACTCGCTTTTTCATTAATGAAACCGGCCGGCGCGGGCGCATGCGCGGCAGGCCGCCTTCCCTCTCGCTTCCCCCTCCCCTTTCCCAGCCGCGCTCTCAATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACGTGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGGTAACCGGCCCGTGGCGGGCGGGAGGTGGGAGCGGAGTGGGGGTGGGGACAGAGTAGGTGAGGGGAGGTAGGAGCGGCCGCCTCCCCCGCGGCTGCCTCAGGCTCTGGAGGAAAGGAAGGGAAGGGAAGAGAAGGGAAGGGGGGATAAGTGGGGGTGGCCAAGGCGGGAGGTGAGGGGTAGGAGGGGACAGCTGGGAGCTTGGGCACCCTTTCCCTCCTAAGTCGGGGGGTGGGGCCTTGTCCCTGACCAGCCTCCGACCCTCCATCCCCTTTATCCCAGCCCTTCCGCTTGGAAATGGGGATGAGTGACCTGGGGGCGCCTTTAGGGGCGCGCCATCTGGATTTAATAATTACCCCCTTACTTTTGTTTTTGAGCAGAGGTGGGTAACGTTTAGGGGTTCTCTCTTCCTCTTCCCTCCGTGACCCTCCTAACTGGGGACGAGCGAACCCTAAGGCCTGTCTTATATACCCTCAATAGGAGAACGATAACATTCCGCCCCTCCCCCAGTTTCTTCAGCTTCCTCTCCTGGAGGGGGAAGAGCAGAAGAAAGCAAGGAAGGCACAGGTTTTCTTACTTTCTGCTCCATCGTCTCATCCTGCCCCGAGAGCTTCAAGTGCACACTCACTGCACATCTTTGTGATGCCCTACAACGTCGTCCCCCATATCCTGATGACACAGACTGCCTTTTTTTTTTATTGCCGTTTGCAGTGGAAACCGTGGTTCTGAAATATCTTCCCCTTCCTTGATAATTGCAGTCTCTTCCCCCCCCCCTTTTTTTTTTGCCAGCGGTCTGAGGATGTGATGCATTCTCGAGTGAGAATGTTGGGGAGTAAAGGGGAGAAGGGTGAAAGGAAAGTGAGAAACTGCTTCAGAGCCACCGACAACAGAGCAAAGCCAGCTGGGATGTGGTCCTGGAGCGGATCATTCTGCTAGTGTTTGTGGTTGTTTTTGACTCTCTCCTGGTTGACAAGAGAACTTTCATTGAGAATATTTGGGATGAAAAAAAAGTTTTGTAGCTTGAGGAGGTGACTTTTTATCGCCTGAGTTTCACACAATAAATCCTGGGGCTGATTAGAATAAATGCACACATAGCCTTTTGTCAGTGGAAATTGGTTTAACTTTGTGTTGCTGTAGGTAGTTGGGGATGGTTTAAGGGATGCTTTCTGCAGCTGTGGGTGCAGTGGGCTTCCTGTGATGGGGGAATTGTTTAAGATTGAGTCAACCTATTTTGTTTACTGGATATAATGGTAAAACATTATGGGAGCTGAAGGGGTGGGGGAAGAGCTCTTCTGTTATTTGATGCATAAACATTTCTTTACGGGACTCAGCGTTTCAGACCTACCTGGAAAATATCTTGGAATAGACAGAGGAAGTTGAGAAGAAGCTATGTAGATAAAATAGAGTTATGAAGCTGTCAGAGACTTGAAGGAATTGTTTTATCCATTCGTATGCTTCCAGACCCAAAGGCATCTAAACTAAACTACTAATCCATCTGAAGTATAATGTTACTGCATATAAAAGATTACATTATTGATAGAGCGTTAGATTTAAAACTTGGTAGAAAAGACTCTGTAATTTTAAGAAAGGATTTAAAAGGCACATAGAAGACTTCCAAAGCTGAACCTTGTGGACAGCAGAATCTGGATGTAGGAAATTGAAGGATCCACGCCGCAATTCTCCTTAAATTTTAAAAATTAAAAATTTTTTTCAGTTTTTTCTTAATTTTATTTTTTTACTTCTTACCTGTTCATCTCTAGGCTTATTTGCCATATTGGAAAAAGATACTTAAGAGAGGAATGATTTTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGC
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Task1_train_23897
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Gene LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Hereditary cancer-predisposing syndrome
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GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTCAACCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCTCTGCACTCCAGCCTGGGTGACAGGGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAATTAGTCATTCCAAAGTCCAATGTCAGACATAGATTATCCGTTGTTTTGGATGTAATCCTCTTCCTGGAAAACTGGCACAACCCAATTACACATGAAATCCTTTCAACTCTGGTATTGGAGGTATAGGGAAGGACTTTGTTTTAGGAGACCCATAGTCTACCTCTATTGTTCTAGGAGTTAAACCACGTTGGTTTACATCCTGACTTTGCCACCTGTCAACTCAGACCTTGGGCAAATCAAAGGTCTGAGGGAGGAGTGCAGGCTCCCAGCGTTCCCACGGGGGTGGGGACGTGACGTATTCATCAGTTCATGAAGTTAATGATATGTATTGAAAAGGTTTGTTCAAGGATTTAAATAAGACGATGAATATATTGAATTAATAATGAATGCAAGGCCTTAAAGGTGTTTTGAGGGTGGTGAAACTTGAATCTCTCATCAACTGTGCAATAGTTATATTAACTTGGATGGCTATGAGTTTTGCAGAGGAAAGCTGGGCTTAAATCCCAATGCTAGACCTGGTGGCTAGACCTTGATTGCCACCGGGTCTAGCATTGGGATTTAAGCGACCTCTAAAAAAAAAAAATCACGGAATCTCTCTTTGGCCTTCCTTTTTTGTTTCTCAGCAGTCTACCAAGCTACGAAGAACCTGAAAATCGGAGGTCGTGTACCTTATTTTTTCTGAGAGCTTAAGCTGAGAGCACAGCCTCCCCAGGAGATTAGCGGCAGAGATCCGCGCGCTGGGAGAAAGGCTAGCCCCAGGGCGCCCTAACTTCCAACTCCGGGAGCAATCCAAACCCGGAGGCCGGCGGGGGAGGGGACAGCTGTAGGGGGCGGTGGGGATGGGAGTGGATGCTCCCGGGTCAGCTCTGGCACTCGCCAGCTGAGCCCAGCGCCAGTCTAGGTGAGCCCCACGGCGGTGAGGGACGCTCGCCAGACGGCCCAGAGGAGTTAGATGACGTCACCTCCAGGAGGACTCGCTTTTTCATTAATGAAACCGGCCGGCGCGGGCGCATGCGCGGCAGGCCGCCTTCCCTCTCGCTTCCCCCTCCCCTTTCCCAGCCGCGCTCTCAATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGGTAACCGGCCCGTGGCGGGCGGGAGGTGGGAGCGGAGTGGGGGTGGGGACAGAGTAGGTGAGGGGAGGTAGGAGCGGCCGCCTCCCCCGCGGCTGCCTCAGGCTCTGGAGGAAAGGAAGGGAAGGGAAGAGAAGGGAAGGGGGGATAAGTGGGGGTGGCCAAGGCGGGAGGTGAGGGGTAGGAGGGGACAGCTGGGAGCTTGGGCACCCTTTCCCTCCTAAGTCGGGGGGTGGGGCCTTGTCCCTGACCAGCCTCCGACCCTCCATCCCCTTTATCCCAGCCCTTCCGCTTGGAAATGGGGATGAGTGACCTGGGGGCGCCTTTAGGGGCGCGCCATCTGGATTTAATAATTACCCCCTTACTTTTGTTTTTGAGCAGAGGTGGGTAACGTTTAGGGGTTCTCTCTTCCTCTTCCCTCCGTGACCCTCCTAACTGGGGACGAGCGAACCCTAAGGCCTGTCTTATATACCCTCAATAGGAGAACGATAACATTCCGCCCCTCCCCCAGTTTCTTCAGCTTCCTCTCCTGGAGGGGGAAGAGCAGAAGAAAGCAAGGAAGGCACAGGTTTTCTTACTTTCTGCTCCATCGTCTCATCCTGCCCCGAGAGCTTCAAGTGCACACTCACTGCACATCTTTGTGATGCCCTACAACGTCGTCCCCCATATCCTGATGACACAGACTGCCTTTTTTTTTTATTGCCGTTTGCAGTGGAAACCGTGGTTCTGAAATATCTTCCCCTTCCTTGATAATTGCAGTCTCTTCCCCCCCCCCTTTTTTTTTTGCCAGCGGTCTGAGGATGTGATGCATTCTCGAGTGAGAATGTTGGGGAGTAAAGGGGAGAAGGGTGAAAGGAAAGTGAGAAACTGCTTCAGAGCCACCGACAACAGAGCAAAGCCAGCTGGGATGTGGTCCTGGAGCGGATCATTCTGCTAGTGTTTGTGGTTGTTTTTGACTCTCTCCTGGTTGACAAGAGAACTTTCATTGAGAATATTTGGGATGAAAAAAAAGTTTTGTAGCTTGAGGAGGTGACTTTTTATCGCCTGAGTTTCACACAATAAATCCTGGGGCTGATTAGAATAAATGCACACATAGCCTTTTGTCAGTGGAAATTGGTTTAACTTTGTGTTGCTGTAGGTAGTTGGGGATGGTTTAAGGGATGCTTTCTGCAGCTGTGGGTGCAGTGGGCTTCCTGTGATGGGGGAATTGTTTAAGATTGAGTCAACCTATTTTGTTTACTGGATATAATGGTAAAACATTATGGGAGCTGAAGGGGTGGGGGAAGAGCTCTTCTGTTATTTGATGCATAAACATTTCTTTACGGGACTCAGCGTTTCAGACCTACCTGGAAAATATCTTGGAATAGACAGAGGAAGTTGAGAAGAAGCTATGTAGATAAAATAGAGTTATGAAGCTGTCAGAGACTTGAAGGAATTGTTTTATCCATTCGTATGCTTCCAGACCCAAAGGCATCTAAACTAAACTACTAATCCATCTGAAGTATAATGTTACTGCATATAAAAGATTACATTATTGATAGAGCGTTAGATTTAAAACTTGGTAGAAAAGACTCTGTAATTTTAAGAAAGGATTTAAAAGGCACATAGAAGACTTCCAAAGCTGAACCTTGTGGACAGCAGAATCTGGATGTAGGAAATTGAAGGATCCACGCCGCAATTCTCCTTAAATTTTAAAAATTAAAAATTTTTTTCAGTTTTTTCTTAATTTTATTTTTTTACTTCTTACCTGTTCATCTCTAGGCTTATTTGCCATATTGGAAAAAGATACTTAAGAGAGGAATGATTTTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGC
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GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTCAACCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCTCTGCACTCCAGCCTGGGTGACAGGGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAATTAGTCATTCCAAAGTCCAATGTCAGACATAGATTATCCGTTGTTTTGGATGTAATCCTCTTCCTGGAAAACTGGCACAACCCAATTACACATGAAATCCTTTCAACTCTGGTATTGGAGGTATAGGGAAGGACTTTGTTTTAGGAGACCCATAGTCTACCTCTATTGTTCTAGGAGTTAAACCACGTTGGTTTACATCCTGACTTTGCCACCTGTCAACTCAGACCTTGGGCAAATCAAAGGTCTGAGGGAGGAGTGCAGGCTCCCAGCGTTCCCACGGGGGTGGGGACGTGACGTATTCATCAGTTCATGAAGTTAATGATATGTATTGAAAAGGTTTGTTCAAGGATTTAAATAAGACGATGAATATATTGAATTAATAATGAATGCAAGGCCTTAAAGGTGTTTTGAGGGTGGTGAAACTTGAATCTCTCATCAACTGTGCAATAGTTATATTAACTTGGATGGCTATGAGTTTTGCAGAGGAAAGCTGGGCTTAAATCCCAATGCTAGACCTGGTGGCTAGACCTTGATTGCCACCGGGTCTAGCATTGGGATTTAAGCGACCTCTAAAAAAAAAAAATCACGGAATCTCTCTTTGGCCTTCCTTTTTTGTTTCTCAGCAGTCTACCAAGCTACGAAGAACCTGAAAATCGGAGGTCGTGTACCTTATTTTTTCTGAGAGCTTAAGCTGAGAGCACAGCCTCCCCAGGAGATTAGCGGCAGAGATCCGCGCGCTGGGAGAAAGGCTAGCCCCAGGGCGCCCTAACTTCCAACTCCGGGAGCAATCCAAACCCGGAGGCCGGCGGGGGAGGGGACAGCTGTAGGGGGCGGTGGGGATGGGAGTGGATGCTCCCGGGTCAGCTCTGGCACTCGCCAGCTGAGCCCAGCGCCAGTCTAGGTGAGCCCCACGGCGGTGAGGGACGCTCGCCAGACGGCCCAGAGGAGTTAGATGACGTCACCTCCAGGAGGACTCGCTTTTTCATTAATGAAACCGGCCGGCGCGGGCGCATGCGCGGCAGGCCGCCTTCCCTCTCGCTTCCCCCTCCCCTTTCCCAGCCGCGCTCTCAATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACGTGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGGTAACCGGCCCGTGGCGGGCGGGAGGTGGGAGCGGAGTGGGGGTGGGGACAGAGTAGGTGAGGGGAGGTAGGAGCGGCCGCCTCCCCCGCGGCTGCCTCAGGCTCTGGAGGAAAGGAAGGGAAGGGAAGAGAAGGGAAGGGGGGATAAGTGGGGGTGGCCAAGGCGGGAGGTGAGGGGTAGGAGGGGACAGCTGGGAGCTTGGGCACCCTTTCCCTCCTAAGTCGGGGGGTGGGGCCTTGTCCCTGACCAGCCTCCGACCCTCCATCCCCTTTATCCCAGCCCTTCCGCTTGGAAATGGGGATGAGTGACCTGGGGGCGCCTTTAGGGGCGCGCCATCTGGATTTAATAATTACCCCCTTACTTTTGTTTTTGAGCAGAGGTGGGTAACGTTTAGGGGTTCTCTCTTCCTCTTCCCTCCGTGACCCTCCTAACTGGGGACGAGCGAACCCTAAGGCCTGTCTTATATACCCTCAATAGGAGAACGATAACATTCCGCCCCTCCCCCAGTTTCTTCAGCTTCCTCTCCTGGAGGGGGAAGAGCAGAAGAAAGCAAGGAAGGCACAGGTTTTCTTACTTTCTGCTCCATCGTCTCATCCTGCCCCGAGAGCTTCAAGTGCACACTCACTGCACATCTTTGTGATGCCCTACAACGTCGTCCCCCATATCCTGATGACACAGACTGCCTTTTTTTTTTATTGCCGTTTGCAGTGGAAACCGTGGTTCTGAAATATCTTCCCCTTCCTTGATAATTGCAGTCTCTTCCCCCCCCCCTTTTTTTTTTGCCAGCGGTCTGAGGATGTGATGCATTCTCGAGTGAGAATGTTGGGGAGTAAAGGGGAGAAGGGTGAAAGGAAAGTGAGAAACTGCTTCAGAGCCACCGACAACAGAGCAAAGCCAGCTGGGATGTGGTCCTGGAGCGGATCATTCTGCTAGTGTTTGTGGTTGTTTTTGACTCTCTCCTGGTTGACAAGAGAACTTTCATTGAGAATATTTGGGATGAAAAAAAAGTTTTGTAGCTTGAGGAGGTGACTTTTTATCGCCTGAGTTTCACACAATAAATCCTGGGGCTGATTAGAATAAATGCACACATAGCCTTTTGTCAGTGGAAATTGGTTTAACTTTGTGTTGCTGTAGGTAGTTGGGGATGGTTTAAGGGATGCTTTCTGCAGCTGTGGGTGCAGTGGGCTTCCTGTGATGGGGGAATTGTTTAAGATTGAGTCAACCTATTTTGTTTACTGGATATAATGGTAAAACATTATGGGAGCTGAAGGGGTGGGGGAAGAGCTCTTCTGTTATTTGATGCATAAACATTTCTTTACGGGACTCAGCGTTTCAGACCTACCTGGAAAATATCTTGGAATAGACAGAGGAAGTTGAGAAGAAGCTATGTAGATAAAATAGAGTTATGAAGCTGTCAGAGACTTGAAGGAATTGTTTTATCCATTCGTATGCTTCCAGACCCAAAGGCATCTAAACTAAACTACTAATCCATCTGAAGTATAATGTTACTGCATATAAAAGATTACATTATTGATAGAGCGTTAGATTTAAAACTTGGTAGAAAAGACTCTGTAATTTTAAGAAAGGATTTAAAAGGCACATAGAAGACTTCCAAAGCTGAACCTTGTGGACAGCAGAATCTGGATGTAGGAAATTGAAGGATCCACGCCGCAATTCTCCTTAAATTTTAAAAATTAAAAATTTTTTTCAGTTTTTTCTTAATTTTATTTTTTTACTTCTTACCTGTTCATCTCTAGGCTTATTTGCCATATTGGAAAAAGATACTTAAGAGAGGAATGATTTTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGC
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Task1_train_23898
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A variant has been detected on Chromosome 17 in LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Cardiovascular phenotype
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GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTCAACCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCTCTGCACTCCAGCCTGGGTGACAGGGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAATTAGTCATTCCAAAGTCCAATGTCAGACATAGATTATCCGTTGTTTTGGATGTAATCCTCTTCCTGGAAAACTGGCACAACCCAATTACACATGAAATCCTTTCAACTCTGGTATTGGAGGTATAGGGAAGGACTTTGTTTTAGGAGACCCATAGTCTACCTCTATTGTTCTAGGAGTTAAACCACGTTGGTTTACATCCTGACTTTGCCACCTGTCAACTCAGACCTTGGGCAAATCAAAGGTCTGAGGGAGGAGTGCAGGCTCCCAGCGTTCCCACGGGGGTGGGGACGTGACGTATTCATCAGTTCATGAAGTTAATGATATGTATTGAAAAGGTTTGTTCAAGGATTTAAATAAGACGATGAATATATTGAATTAATAATGAATGCAAGGCCTTAAAGGTGTTTTGAGGGTGGTGAAACTTGAATCTCTCATCAACTGTGCAATAGTTATATTAACTTGGATGGCTATGAGTTTTGCAGAGGAAAGCTGGGCTTAAATCCCAATGCTAGACCTGGTGGCTAGACCTTGATTGCCACCGGGTCTAGCATTGGGATTTAAGCGACCTCTAAAAAAAAAAAATCACGGAATCTCTCTTTGGCCTTCCTTTTTTGTTTCTCAGCAGTCTACCAAGCTACGAAGAACCTGAAAATCGGAGGTCGTGTACCTTATTTTTTCTGAGAGCTTAAGCTGAGAGCACAGCCTCCCCAGGAGATTAGCGGCAGAGATCCGCGCGCTGGGAGAAAGGCTAGCCCCAGGGCGCCCTAACTTCCAACTCCGGGAGCAATCCAAACCCGGAGGCCGGCGGGGGAGGGGACAGCTGTAGGGGGCGGTGGGGATGGGAGTGGATGCTCCCGGGTCAGCTCTGGCACTCGCCAGCTGAGCCCAGCGCCAGTCTAGGTGAGCCCCACGGCGGTGAGGGACGCTCGCCAGACGGCCCAGAGGAGTTAGATGACGTCACCTCCAGGAGGACTCGCTTTTTCATTAATGAAACCGGCCGGCGCGGGCGCATGCGCGGCAGGCCGCCTTCCCTCTCGCTTCCCCCTCCCCTTTCCCAGCCGCGCTCTCAATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGGTAACCGGCCCGTGGCGGGCGGGAGGTGGGAGCGGAGTGGGGGTGGGGACAGAGTAGGTGAGGGGAGGTAGGAGCGGCCGCCTCCCCCGCGGCTGCCTCAGGCTCTGGAGGAAAGGAAGGGAAGGGAAGAGAAGGGAAGGGGGGATAAGTGGGGGTGGCCAAGGCGGGAGGTGAGGGGTAGGAGGGGACAGCTGGGAGCTTGGGCACCCTTTCCCTCCTAAGTCGGGGGGTGGGGCCTTGTCCCTGACCAGCCTCCGACCCTCCATCCCCTTTATCCCAGCCCTTCCGCTTGGAAATGGGGATGAGTGACCTGGGGGCGCCTTTAGGGGCGCGCCATCTGGATTTAATAATTACCCCCTTACTTTTGTTTTTGAGCAGAGGTGGGTAACGTTTAGGGGTTCTCTCTTCCTCTTCCCTCCGTGACCCTCCTAACTGGGGACGAGCGAACCCTAAGGCCTGTCTTATATACCCTCAATAGGAGAACGATAACATTCCGCCCCTCCCCCAGTTTCTTCAGCTTCCTCTCCTGGAGGGGGAAGAGCAGAAGAAAGCAAGGAAGGCACAGGTTTTCTTACTTTCTGCTCCATCGTCTCATCCTGCCCCGAGAGCTTCAAGTGCACACTCACTGCACATCTTTGTGATGCCCTACAACGTCGTCCCCCATATCCTGATGACACAGACTGCCTTTTTTTTTTATTGCCGTTTGCAGTGGAAACCGTGGTTCTGAAATATCTTCCCCTTCCTTGATAATTGCAGTCTCTTCCCCCCCCCCTTTTTTTTTTGCCAGCGGTCTGAGGATGTGATGCATTCTCGAGTGAGAATGTTGGGGAGTAAAGGGGAGAAGGGTGAAAGGAAAGTGAGAAACTGCTTCAGAGCCACCGACAACAGAGCAAAGCCAGCTGGGATGTGGTCCTGGAGCGGATCATTCTGCTAGTGTTTGTGGTTGTTTTTGACTCTCTCCTGGTTGACAAGAGAACTTTCATTGAGAATATTTGGGATGAAAAAAAAGTTTTGTAGCTTGAGGAGGTGACTTTTTATCGCCTGAGTTTCACACAATAAATCCTGGGGCTGATTAGAATAAATGCACACATAGCCTTTTGTCAGTGGAAATTGGTTTAACTTTGTGTTGCTGTAGGTAGTTGGGGATGGTTTAAGGGATGCTTTCTGCAGCTGTGGGTGCAGTGGGCTTCCTGTGATGGGGGAATTGTTTAAGATTGAGTCAACCTATTTTGTTTACTGGATATAATGGTAAAACATTATGGGAGCTGAAGGGGTGGGGGAAGAGCTCTTCTGTTATTTGATGCATAAACATTTCTTTACGGGACTCAGCGTTTCAGACCTACCTGGAAAATATCTTGGAATAGACAGAGGAAGTTGAGAAGAAGCTATGTAGATAAAATAGAGTTATGAAGCTGTCAGAGACTTGAAGGAATTGTTTTATCCATTCGTATGCTTCCAGACCCAAAGGCATCTAAACTAAACTACTAATCCATCTGAAGTATAATGTTACTGCATATAAAAGATTACATTATTGATAGAGCGTTAGATTTAAAACTTGGTAGAAAAGACTCTGTAATTTTAAGAAAGGATTTAAAAGGCACATAGAAGACTTCCAAAGCTGAACCTTGTGGACAGCAGAATCTGGATGTAGGAAATTGAAGGATCCACGCCGCAATTCTCCTTAAATTTTAAAAATTAAAAATTTTTTTCAGTTTTTTCTTAATTTTATTTTTTTACTTCTTACCTGTTCATCTCTAGGCTTATTTGCCATATTGGAAAAAGATACTTAAGAGAGGAATGATTTTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGC
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GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTCAACCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCTCTGCACTCCAGCCTGGGTGACAGGGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAATTAGTCATTCCAAAGTCCAATGTCAGACATAGATTATCCGTTGTTTTGGATGTAATCCTCTTCCTGGAAAACTGGCACAACCCAATTACACATGAAATCCTTTCAACTCTGGTATTGGAGGTATAGGGAAGGACTTTGTTTTAGGAGACCCATAGTCTACCTCTATTGTTCTAGGAGTTAAACCACGTTGGTTTACATCCTGACTTTGCCACCTGTCAACTCAGACCTTGGGCAAATCAAAGGTCTGAGGGAGGAGTGCAGGCTCCCAGCGTTCCCACGGGGGTGGGGACGTGACGTATTCATCAGTTCATGAAGTTAATGATATGTATTGAAAAGGTTTGTTCAAGGATTTAAATAAGACGATGAATATATTGAATTAATAATGAATGCAAGGCCTTAAAGGTGTTTTGAGGGTGGTGAAACTTGAATCTCTCATCAACTGTGCAATAGTTATATTAACTTGGATGGCTATGAGTTTTGCAGAGGAAAGCTGGGCTTAAATCCCAATGCTAGACCTGGTGGCTAGACCTTGATTGCCACCGGGTCTAGCATTGGGATTTAAGCGACCTCTAAAAAAAAAAAATCACGGAATCTCTCTTTGGCCTTCCTTTTTTGTTTCTCAGCAGTCTACCAAGCTACGAAGAACCTGAAAATCGGAGGTCGTGTACCTTATTTTTTCTGAGAGCTTAAGCTGAGAGCACAGCCTCCCCAGGAGATTAGCGGCAGAGATCCGCGCGCTGGGAGAAAGGCTAGCCCCAGGGCGCCCTAACTTCCAACTCCGGGAGCAATCCAAACCCGGAGGCCGGCGGGGGAGGGGACAGCTGTAGGGGGCGGTGGGGATGGGAGTGGATGCTCCCGGGTCAGCTCTGGCACTCGCCAGCTGAGCCCAGCGCCAGTCTAGGTGAGCCCCACGGCGGTGAGGGACGCTCGCCAGACGGCCCAGAGGAGTTAGATGACGTCACCTCCAGGAGGACTCGCTTTTTCATTAATGAAACCGGCCGGCGCGGGCGCATGCGCGGCAGGCCGCCTTCCCTCTCGCTTCCCCCTCCCCTTTCCCAGCCGCGCTCTCAATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACGTGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGGTAACCGGCCCGTGGCGGGCGGGAGGTGGGAGCGGAGTGGGGGTGGGGACAGAGTAGGTGAGGGGAGGTAGGAGCGGCCGCCTCCCCCGCGGCTGCCTCAGGCTCTGGAGGAAAGGAAGGGAAGGGAAGAGAAGGGAAGGGGGGATAAGTGGGGGTGGCCAAGGCGGGAGGTGAGGGGTAGGAGGGGACAGCTGGGAGCTTGGGCACCCTTTCCCTCCTAAGTCGGGGGGTGGGGCCTTGTCCCTGACCAGCCTCCGACCCTCCATCCCCTTTATCCCAGCCCTTCCGCTTGGAAATGGGGATGAGTGACCTGGGGGCGCCTTTAGGGGCGCGCCATCTGGATTTAATAATTACCCCCTTACTTTTGTTTTTGAGCAGAGGTGGGTAACGTTTAGGGGTTCTCTCTTCCTCTTCCCTCCGTGACCCTCCTAACTGGGGACGAGCGAACCCTAAGGCCTGTCTTATATACCCTCAATAGGAGAACGATAACATTCCGCCCCTCCCCCAGTTTCTTCAGCTTCCTCTCCTGGAGGGGGAAGAGCAGAAGAAAGCAAGGAAGGCACAGGTTTTCTTACTTTCTGCTCCATCGTCTCATCCTGCCCCGAGAGCTTCAAGTGCACACTCACTGCACATCTTTGTGATGCCCTACAACGTCGTCCCCCATATCCTGATGACACAGACTGCCTTTTTTTTTTATTGCCGTTTGCAGTGGAAACCGTGGTTCTGAAATATCTTCCCCTTCCTTGATAATTGCAGTCTCTTCCCCCCCCCCTTTTTTTTTTGCCAGCGGTCTGAGGATGTGATGCATTCTCGAGTGAGAATGTTGGGGAGTAAAGGGGAGAAGGGTGAAAGGAAAGTGAGAAACTGCTTCAGAGCCACCGACAACAGAGCAAAGCCAGCTGGGATGTGGTCCTGGAGCGGATCATTCTGCTAGTGTTTGTGGTTGTTTTTGACTCTCTCCTGGTTGACAAGAGAACTTTCATTGAGAATATTTGGGATGAAAAAAAAGTTTTGTAGCTTGAGGAGGTGACTTTTTATCGCCTGAGTTTCACACAATAAATCCTGGGGCTGATTAGAATAAATGCACACATAGCCTTTTGTCAGTGGAAATTGGTTTAACTTTGTGTTGCTGTAGGTAGTTGGGGATGGTTTAAGGGATGCTTTCTGCAGCTGTGGGTGCAGTGGGCTTCCTGTGATGGGGGAATTGTTTAAGATTGAGTCAACCTATTTTGTTTACTGGATATAATGGTAAAACATTATGGGAGCTGAAGGGGTGGGGGAAGAGCTCTTCTGTTATTTGATGCATAAACATTTCTTTACGGGACTCAGCGTTTCAGACCTACCTGGAAAATATCTTGGAATAGACAGAGGAAGTTGAGAAGAAGCTATGTAGATAAAATAGAGTTATGAAGCTGTCAGAGACTTGAAGGAATTGTTTTATCCATTCGTATGCTTCCAGACCCAAAGGCATCTAAACTAAACTACTAATCCATCTGAAGTATAATGTTACTGCATATAAAAGATTACATTATTGATAGAGCGTTAGATTTAAAACTTGGTAGAAAAGACTCTGTAATTTTAAGAAAGGATTTAAAAGGCACATAGAAGACTTCCAAAGCTGAACCTTGTGGACAGCAGAATCTGGATGTAGGAAATTGAAGGATCCACGCCGCAATTCTCCTTAAATTTTAAAAATTAAAAATTTTTTTCAGTTTTTTCTTAATTTTATTTTTTTACTTCTTACCTGTTCATCTCTAGGCTTATTTGCCATATTGGAAAAAGATACTTAAGAGAGGAATGATTTTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGC
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Task1_train_23899
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Gene LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Neurofibromatosis, type 1
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GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTCAACCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCTCTGCACTCCAGCCTGGGTGACAGGGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAATTAGTCATTCCAAAGTCCAATGTCAGACATAGATTATCCGTTGTTTTGGATGTAATCCTCTTCCTGGAAAACTGGCACAACCCAATTACACATGAAATCCTTTCAACTCTGGTATTGGAGGTATAGGGAAGGACTTTGTTTTAGGAGACCCATAGTCTACCTCTATTGTTCTAGGAGTTAAACCACGTTGGTTTACATCCTGACTTTGCCACCTGTCAACTCAGACCTTGGGCAAATCAAAGGTCTGAGGGAGGAGTGCAGGCTCCCAGCGTTCCCACGGGGGTGGGGACGTGACGTATTCATCAGTTCATGAAGTTAATGATATGTATTGAAAAGGTTTGTTCAAGGATTTAAATAAGACGATGAATATATTGAATTAATAATGAATGCAAGGCCTTAAAGGTGTTTTGAGGGTGGTGAAACTTGAATCTCTCATCAACTGTGCAATAGTTATATTAACTTGGATGGCTATGAGTTTTGCAGAGGAAAGCTGGGCTTAAATCCCAATGCTAGACCTGGTGGCTAGACCTTGATTGCCACCGGGTCTAGCATTGGGATTTAAGCGACCTCTAAAAAAAAAAAATCACGGAATCTCTCTTTGGCCTTCCTTTTTTGTTTCTCAGCAGTCTACCAAGCTACGAAGAACCTGAAAATCGGAGGTCGTGTACCTTATTTTTTCTGAGAGCTTAAGCTGAGAGCACAGCCTCCCCAGGAGATTAGCGGCAGAGATCCGCGCGCTGGGAGAAAGGCTAGCCCCAGGGCGCCCTAACTTCCAACTCCGGGAGCAATCCAAACCCGGAGGCCGGCGGGGGAGGGGACAGCTGTAGGGGGCGGTGGGGATGGGAGTGGATGCTCCCGGGTCAGCTCTGGCACTCGCCAGCTGAGCCCAGCGCCAGTCTAGGTGAGCCCCACGGCGGTGAGGGACGCTCGCCAGACGGCCCAGAGGAGTTAGATGACGTCACCTCCAGGAGGACTCGCTTTTTCATTAATGAAACCGGCCGGCGCGGGCGCATGCGCGGCAGGCCGCCTTCCCTCTCGCTTCCCCCTCCCCTTTCCCAGCCGCGCTCTCAATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGGTAACCGGCCCGTGGCGGGCGGGAGGTGGGAGCGGAGTGGGGGTGGGGACAGAGTAGGTGAGGGGAGGTAGGAGCGGCCGCCTCCCCCGCGGCTGCCTCAGGCTCTGGAGGAAAGGAAGGGAAGGGAAGAGAAGGGAAGGGGGGATAAGTGGGGGTGGCCAAGGCGGGAGGTGAGGGGTAGGAGGGGACAGCTGGGAGCTTGGGCACCCTTTCCCTCCTAAGTCGGGGGGTGGGGCCTTGTCCCTGACCAGCCTCCGACCCTCCATCCCCTTTATCCCAGCCCTTCCGCTTGGAAATGGGGATGAGTGACCTGGGGGCGCCTTTAGGGGCGCGCCATCTGGATTTAATAATTACCCCCTTACTTTTGTTTTTGAGCAGAGGTGGGTAACGTTTAGGGGTTCTCTCTTCCTCTTCCCTCCGTGACCCTCCTAACTGGGGACGAGCGAACCCTAAGGCCTGTCTTATATACCCTCAATAGGAGAACGATAACATTCCGCCCCTCCCCCAGTTTCTTCAGCTTCCTCTCCTGGAGGGGGAAGAGCAGAAGAAAGCAAGGAAGGCACAGGTTTTCTTACTTTCTGCTCCATCGTCTCATCCTGCCCCGAGAGCTTCAAGTGCACACTCACTGCACATCTTTGTGATGCCCTACAACGTCGTCCCCCATATCCTGATGACACAGACTGCCTTTTTTTTTTATTGCCGTTTGCAGTGGAAACCGTGGTTCTGAAATATCTTCCCCTTCCTTGATAATTGCAGTCTCTTCCCCCCCCCCTTTTTTTTTTGCCAGCGGTCTGAGGATGTGATGCATTCTCGAGTGAGAATGTTGGGGAGTAAAGGGGAGAAGGGTGAAAGGAAAGTGAGAAACTGCTTCAGAGCCACCGACAACAGAGCAAAGCCAGCTGGGATGTGGTCCTGGAGCGGATCATTCTGCTAGTGTTTGTGGTTGTTTTTGACTCTCTCCTGGTTGACAAGAGAACTTTCATTGAGAATATTTGGGATGAAAAAAAAGTTTTGTAGCTTGAGGAGGTGACTTTTTATCGCCTGAGTTTCACACAATAAATCCTGGGGCTGATTAGAATAAATGCACACATAGCCTTTTGTCAGTGGAAATTGGTTTAACTTTGTGTTGCTGTAGGTAGTTGGGGATGGTTTAAGGGATGCTTTCTGCAGCTGTGGGTGCAGTGGGCTTCCTGTGATGGGGGAATTGTTTAAGATTGAGTCAACCTATTTTGTTTACTGGATATAATGGTAAAACATTATGGGAGCTGAAGGGGTGGGGGAAGAGCTCTTCTGTTATTTGATGCATAAACATTTCTTTACGGGACTCAGCGTTTCAGACCTACCTGGAAAATATCTTGGAATAGACAGAGGAAGTTGAGAAGAAGCTATGTAGATAAAATAGAGTTATGAAGCTGTCAGAGACTTGAAGGAATTGTTTTATCCATTCGTATGCTTCCAGACCCAAAGGCATCTAAACTAAACTACTAATCCATCTGAAGTATAATGTTACTGCATATAAAAGATTACATTATTGATAGAGCGTTAGATTTAAAACTTGGTAGAAAAGACTCTGTAATTTTAAGAAAGGATTTAAAAGGCACATAGAAGACTTCCAAAGCTGAACCTTGTGGACAGCAGAATCTGGATGTAGGAAATTGAAGGATCCACGCCGCAATTCTCCTTAAATTTTAAAAATTAAAAATTTTTTTCAGTTTTTTCTTAATTTTATTTTTTTACTTCTTACCTGTTCATCTCTAGGCTTATTTGCCATATTGGAAAAAGATACTTAAGAGAGGAATGATTTTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGC
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GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTCAACCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCTCTGCACTCCAGCCTGGGTGACAGGGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAATTAGTCATTCCAAAGTCCAATGTCAGACATAGATTATCCGTTGTTTTGGATGTAATCCTCTTCCTGGAAAACTGGCACAACCCAATTACACATGAAATCCTTTCAACTCTGGTATTGGAGGTATAGGGAAGGACTTTGTTTTAGGAGACCCATAGTCTACCTCTATTGTTCTAGGAGTTAAACCACGTTGGTTTACATCCTGACTTTGCCACCTGTCAACTCAGACCTTGGGCAAATCAAAGGTCTGAGGGAGGAGTGCAGGCTCCCAGCGTTCCCACGGGGGTGGGGACGTGACGTATTCATCAGTTCATGAAGTTAATGATATGTATTGAAAAGGTTTGTTCAAGGATTTAAATAAGACGATGAATATATTGAATTAATAATGAATGCAAGGCCTTAAAGGTGTTTTGAGGGTGGTGAAACTTGAATCTCTCATCAACTGTGCAATAGTTATATTAACTTGGATGGCTATGAGTTTTGCAGAGGAAAGCTGGGCTTAAATCCCAATGCTAGACCTGGTGGCTAGACCTTGATTGCCACCGGGTCTAGCATTGGGATTTAAGCGACCTCTAAAAAAAAAAAATCACGGAATCTCTCTTTGGCCTTCCTTTTTTGTTTCTCAGCAGTCTACCAAGCTACGAAGAACCTGAAAATCGGAGGTCGTGTACCTTATTTTTTCTGAGAGCTTAAGCTGAGAGCACAGCCTCCCCAGGAGATTAGCGGCAGAGATCCGCGCGCTGGGAGAAAGGCTAGCCCCAGGGCGCCCTAACTTCCAACTCCGGGAGCAATCCAAACCCGGAGGCCGGCGGGGGAGGGGACAGCTGTAGGGGGCGGTGGGGATGGGAGTGGATGCTCCCGGGTCAGCTCTGGCACTCGCCAGCTGAGCCCAGCGCCAGTCTAGGTGAGCCCCACGGCGGTGAGGGACGCTCGCCAGACGGCCCAGAGGAGTTAGATGACGTCACCTCCAGGAGGACTCGCTTTTTCATTAATGAAACCGGCCGGCGCGGGCGCATGCGCGGCAGGCCGCCTTCCCTCTCGCTTCCCCCTCCCCTTTCCCAGCCGCGCTCTCAATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACTTGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGGTAACCGGCCCGTGGCGGGCGGGAGGTGGGAGCGGAGTGGGGGTGGGGACAGAGTAGGTGAGGGGAGGTAGGAGCGGCCGCCTCCCCCGCGGCTGCCTCAGGCTCTGGAGGAAAGGAAGGGAAGGGAAGAGAAGGGAAGGGGGGATAAGTGGGGGTGGCCAAGGCGGGAGGTGAGGGGTAGGAGGGGACAGCTGGGAGCTTGGGCACCCTTTCCCTCCTAAGTCGGGGGGTGGGGCCTTGTCCCTGACCAGCCTCCGACCCTCCATCCCCTTTATCCCAGCCCTTCCGCTTGGAAATGGGGATGAGTGACCTGGGGGCGCCTTTAGGGGCGCGCCATCTGGATTTAATAATTACCCCCTTACTTTTGTTTTTGAGCAGAGGTGGGTAACGTTTAGGGGTTCTCTCTTCCTCTTCCCTCCGTGACCCTCCTAACTGGGGACGAGCGAACCCTAAGGCCTGTCTTATATACCCTCAATAGGAGAACGATAACATTCCGCCCCTCCCCCAGTTTCTTCAGCTTCCTCTCCTGGAGGGGGAAGAGCAGAAGAAAGCAAGGAAGGCACAGGTTTTCTTACTTTCTGCTCCATCGTCTCATCCTGCCCCGAGAGCTTCAAGTGCACACTCACTGCACATCTTTGTGATGCCCTACAACGTCGTCCCCCATATCCTGATGACACAGACTGCCTTTTTTTTTTATTGCCGTTTGCAGTGGAAACCGTGGTTCTGAAATATCTTCCCCTTCCTTGATAATTGCAGTCTCTTCCCCCCCCCCTTTTTTTTTTGCCAGCGGTCTGAGGATGTGATGCATTCTCGAGTGAGAATGTTGGGGAGTAAAGGGGAGAAGGGTGAAAGGAAAGTGAGAAACTGCTTCAGAGCCACCGACAACAGAGCAAAGCCAGCTGGGATGTGGTCCTGGAGCGGATCATTCTGCTAGTGTTTGTGGTTGTTTTTGACTCTCTCCTGGTTGACAAGAGAACTTTCATTGAGAATATTTGGGATGAAAAAAAAGTTTTGTAGCTTGAGGAGGTGACTTTTTATCGCCTGAGTTTCACACAATAAATCCTGGGGCTGATTAGAATAAATGCACACATAGCCTTTTGTCAGTGGAAATTGGTTTAACTTTGTGTTGCTGTAGGTAGTTGGGGATGGTTTAAGGGATGCTTTCTGCAGCTGTGGGTGCAGTGGGCTTCCTGTGATGGGGGAATTGTTTAAGATTGAGTCAACCTATTTTGTTTACTGGATATAATGGTAAAACATTATGGGAGCTGAAGGGGTGGGGGAAGAGCTCTTCTGTTATTTGATGCATAAACATTTCTTTACGGGACTCAGCGTTTCAGACCTACCTGGAAAATATCTTGGAATAGACAGAGGAAGTTGAGAAGAAGCTATGTAGATAAAATAGAGTTATGAAGCTGTCAGAGACTTGAAGGAATTGTTTTATCCATTCGTATGCTTCCAGACCCAAAGGCATCTAAACTAAACTACTAATCCATCTGAAGTATAATGTTACTGCATATAAAAGATTACATTATTGATAGAGCGTTAGATTTAAAACTTGGTAGAAAAGACTCTGTAATTTTAAGAAAGGATTTAAAAGGCACATAGAAGACTTCCAAAGCTGAACCTTGTGGACAGCAGAATCTGGATGTAGGAAATTGAAGGATCCACGCCGCAATTCTCCTTAAATTTTAAAAATTAAAAATTTTTTTCAGTTTTTTCTTAATTTTATTTTTTTACTTCTTACCTGTTCATCTCTAGGCTTATTTGCCATATTGGAAAAAGATACTTAAGAGAGGAATGATTTTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGC
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Subsets and Splits
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