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_24400
|
A sequence alteration has been identified in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it disease-inducing or harmless?
|
Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
|
TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA
|
TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCAGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA
|
Task1_train_24401
|
This mutation occurs in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; STAT3 gain of function
|
TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA
|
TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCGGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA
|
Task1_train_24402
|
This is a variant in STAT3 (signal transducer and activator of transcription 3), located on Chromosome 17. Is this mutation a likely cause of disease or not?
|
Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
|
TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA
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TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCGGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA
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Task1_train_24403
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A sequence alteration has been identified in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA
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TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCTGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA
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Task1_train_24404
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A genomic change on Chromosome 17 affects STAT3 (signal transducer and activator of transcription 3). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Inherited Immunodeficiency Diseases
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TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA
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TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCTGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA
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Task1_train_24405
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This variant affects the gene STAT3 (signal transducer and activator of transcription 3) 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; STAT3 gain of function
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TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA
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TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCTGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA
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Task1_train_24406
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The gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA
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TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCTGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGA
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Task1_train_24407
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A variant on Chromosome 17 in gene STAT3 (signal transducer and activator of transcription 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG
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GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCAGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG
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Task1_train_24408
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Here’s a variant in STAT3 (signal transducer and activator of transcription 3) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; STAT3-related early-onset multisystem autoimmune disease
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GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG
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GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCAGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG
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Task1_train_24409
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A sequence alteration has been identified in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG
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GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCAGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG
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Task1_train_24410
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A variant affecting Chromosome 17, within the gene STAT3 (signal transducer and activator of transcription 3), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; STAT3-related early-onset multisystem autoimmune disease
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GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG
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GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCAGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG
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Task1_train_24411
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Gene STAT3 (signal transducer and activator of transcription 3) 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; STAT3 gain of function
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GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG
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GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCAGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG
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Task1_train_24412
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Located on Chromosome 17, this mutation impacts STAT3 (signal transducer and activator of transcription 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG
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GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCAGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAG
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Task1_train_24413
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Consider a variant on Chromosome 17 in gene STAT3 (signal transducer and activator of transcription 3). Determine its clinical classification and disease relevance.
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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AAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAG
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AAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCCGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAG
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Task1_train_24414
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This variant affects the gene STAT3 (signal transducer and activator of transcription 3) 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; STAT3 gain of function
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AAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAG
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AAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCCGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAG
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Task1_train_24415
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The variant affects gene STAT3 (signal transducer and activator of transcription 3), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; STAT3-related early-onset multisystem autoimmune disease
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GCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGA
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GCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGAACAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGA
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Task1_train_24416
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A variant was discovered on Chromosome 17, affecting STAT3 (signal transducer and activator of transcription 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; STAT3-related early-onset multisystem autoimmune disease
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AGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGG
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AGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAAGTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGG
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Task1_train_24417
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The gene STAT3 (signal transducer and activator of transcription 3), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Inborn genetic diseases
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GCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGA
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GCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGAAGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGA
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Task1_train_24418
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A genetic alteration is present in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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CACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAA
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CACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATACATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAA
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Task1_train_24419
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A sequence alteration has been identified in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; STAT3 gain of function
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CACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAA
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CACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATACATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAA
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Task1_train_24420
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Located on Chromosome 17, this mutation impacts STAT3 (signal transducer and activator of transcription 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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CACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAA
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CACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATACATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAA
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Task1_train_24421
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This alteration in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; not provided
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GGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAATCGCTT
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GGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGACATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAATCGCTT
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Task1_train_24422
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The gene STAT3 (signal transducer and activator of transcription 3), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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GAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAATCGCTTGA
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GAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCTTGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAATCGCTTGA
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Task1_train_24423
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Consider a variant on Chromosome 17 in gene STAT3 (signal transducer and activator of transcription 3). Determine its clinical classification and disease relevance.
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Pathogenic; STAT3 gain of function
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GAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAATCGCTTGA
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GAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCTTGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAATCGCTTGA
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Task1_train_24424
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A variant was discovered in gene STAT3 (signal transducer and activator of transcription 3), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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AGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCATGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAATCGCTTGAA
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AGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGCGCGCCACCACGCTCAGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGATGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGTGCCTGGCCCCTATCTCTCTCTTTAAAAAAATTAAAATAGGGCTGGGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAGATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAATCCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGAGTGTGCCGGTCCAGCTACTCAGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATTGCAACACGCACTCTGGCCTGGCCGAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCACGCACCTCTATTCCCAGTTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACACCAGCCTGGGTGAGAGTGAGACCCTGTCTCAAACAAAAACAAAAGATGAGTATCACTCCTTCAAGCCAAAGGTACTGAGAAAACATCTAAGAACTAACAACTTAAAGTTGTGAGAGATTCACAAAAGGATAATCAAAGCCATATAATGAAAAATATTACAGGAACACATGCTGTGCAGCTGGCATTTTGTTCTATTAATCCTGAAACCGAACACCATACTAAGTTTCTGAGGAGGGAAATTTTGCTGCAGAAGGTCAAAACCCCAGCACACCTGTTCTGACTTGAGTGTGAAAGTAACACCTCACCCTACAGGCCCACCACCCACCTGCCCTGGGGCCTCTCAGCTTCCCCATCACTAAGCCTTACTCTTTCCCTTAAAATCCACAGGGAAGAGTAGCCTCAAAGAACAGAAAATAGATGACATTATTTTGTCCCTTGGGCAGAAGGAGAAGCTGTGGCCTGAGACTCCAGGTCTACAATCATAGGAATATGCCCAGGTACCTTCAAAAAGATGACTGCTCTTTTGCTTTTGACATCAGAATCAGAGAGCAAGCAGATAGTATGGCAACAAATTTCAACCCCGCAACAGTGTACTGCCTGTGACACCACACCTGGAAAGAATGACCCTGGCCACCAACTCTACCCTCACCCTAACAGTGTCCCTCAGTAAAATCTCTACTGGAAATGGAAGTGGCATGGCCTACCTGACTTTAGTAGTGAACTGGACGCCGGTCTTGATGACGAGGGGCCGGTCAGGATGCATGGGCACGCAGGGCTGCCGCTCCACCACAAAGGCACTGAGGAAAGAGAAGATGGGCTCACGCGCCACGGCCATGACCAGAAGTCAGCCCGCCTCTCACTCTACCACGTGAGTCTTTAGGTATTTTTTAGATGAGGGAAAGGGACAAGGATGCTAAATTACCTTTTCATTAAGTTTCTAAACAGCTCCACGATTCTCTCCTCCAGCATCGGCCGGTGCTGTACAATGGGGTCCCCTTTGTAGGAAACTTTTTGCTGCAACTCCTCCAGTTTCTTAATTTGTTGACGGGTCTGAAGTTGAGATTCTGCTAATGACGTTATCCTGCCAATAAATTAAGAAAGATGCTAATTACCAAAGTGAATGTATACAGGTGAGATGGAGAAGGGGAAGGAAATACTGAAGACATGGAGACCACTACAATAAGAACAAGGAATTTTTTTATTGTGGTGAAATATATATAGCATGAAATTTACAATTTTTCATCTTAAGTTTACAGTTCAGTGACATTAAGAAAAGAGGAATTTTTCACCATGTTGGGTGGATGCTGAAAAAATAAATAAAAAAAGAAAATAATTTATTTATTTATTTATTTTTTGAGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATTTCCCGGGTTCAAGTGATTCTCCTGCCTGAGCCTCCTGAGAGATTACAGGTGTAAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACTCCCGGATAATTTTTGCATTTTTAGTAGAGATGGGATTTTGCCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCGACCTCCCGAAGTACTGGCATTACAGGTGTGAGCCACCATGCCTGGCCAGAAAATAATTTATTTTACCTTTTATTACTAGTCCCTTCCTAAAATCTCAAATTTCTAAGAGGGGGCTGGGCACACAAGAAGTATTAAAATTTATACCACTAGGAGGCATTGATGGAGTTATCACTGGAAAATGACAAGCATCTGAGCCCAGATATGCAGAACACGAAATATGGAATTTAGCACTTACTTTACTCATCCTAACTTGTCTATGAACATAAAGACTCAGAAAAAGAGATTAGACAGCTCCCAAAGATGGGTTTGAGCCAGCTCTGTCACACACTATCTGTGCAAGCTTTGCCAGGCCCTTCACCATCATGGGCCTTAGCATCCCCTTGCATGAAGAGAAGGGCTTGAACTACATGAGCCCTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGGGTCCCACTCTGTGGCCTAGTGCAGTGCAATGGCATGATCATAGCTCACTGCCTCCTCCAACTCCTGGACATGAGTGATCCTCCTACCTCAGCTTCCTGAGTAGCTAGAACTATAGGTGTGTGCCACCATGCCTGTTTAGTTTAGTTTAGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGTAATGGCACATGTCTAGTTTTTTAAATTTTTGTAGGGATGGGATCTCACTTTGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTGATCCTCCCGACTCTGCCTCCCAAAGCATTGGGATTTACAGGCGTGAGCCACAACACCCAATCCCCATAAGCCTTTTCAATGTCAGCCTTCAACTGATCAAAGGACATGACATTATGTTTCAAAATATTGATAACATGCACAAGGAATAAGTGAATAGAGAGGGAGAAAAAGCTCATTAAATCTATCTCCAAGAATAGAGATATTAGGCCAGGTGCAGTGGCTGACACCTGTAATCCCAAAAATTTGAGAGGCCGAGGCAGGTCGATCTACTAAAATACAAAAAAATAGCCAGGCATGGTGGCATGGGCCTGTAATCCCAGCTACTTGGAAGGTTGTGACTAAGAATCGCTTGAA
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Task1_train_24425
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This alteration in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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CCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGTGAGAGTTTTCTGCACGTACTCCATCGCTGACAAAAGCCCCGCCAGCTCACTCACGATGCTCTGGTTGGAAACCAAAACAAAGTCAGAAAACATTTCCTCAGACTGTCTCTAACCACATTCTTTAGTCAACTCCAGAGCAGGAACTTCTTAGAAACCAAGCAAGTTCTGCCACAAGACGCTGAAATCCCGCAAGTGAGCGAGACACATGGGGGAAGTGGTCCGACCTATGCCCTTACTCTCCGCATCTGGTCCAGCGCAGTGAGCATCTGTTCCAGCTGCTGCATCTTCTGCCTGGTCACTGACTGGTTGTTTCCATTCAGATCTTGCATGTCTGCGAAGGAAGAAAAAACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGTCCTTAATGACCAGGCTCCTTTGAGGACCCGTACCTCCCTTGCGCCCCGCCCGCCTTAAGATCTAAACAGAGTTAAGACAAATGAGTCTTTCAACTCAACAACACAAACTCACTTTCTAGAGATTTTAACATCTCTAATATTCACTTGCCTCCTTGACTCTTGAGGGTTTTATAGTTGAAATCAAAGTCATCCTGGAGATTCTCTACCACTTTCATTTTCTGTTCTAGATCCTGTTTAAAATAAGCAAACAAAAAAACAGAAGTAAAGAAAGATTTCCTTGGGAACAGAAAATATAAAGTTTCTGAGGAGAATTCAAATGAAGCCAAAACCTCAAAAAAGATACATGCAGGACCTGCAGGCAGTATCCCCAAGAGAAGGCTCCCTGTTGGCCAGGTGCAGTGGCTCACGCCTGTAATGCCAGCACTTTGAGAGGCTGAGTTGGGAGGATCACTTGAGCCCAGGAGTTCATGATCAGCCTGGACAACACAGGGAGACCCCCATCTCTACAAATTTTTTTTTTTTAATTAGCTGGGCGTGGTGGTGCATGCCTGTGGTCCCGGCTACTTGGGAGGATGAGGTAGGAGGATCGCTTGGGCCTGAGAGGTCGAGGCTGCAGTGAGCTGTGATCATGCCACTGCAGCCCAGCCTGAGTGGCAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAATTAATGAAAGCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTATGGGGAGAGGAATACCTCTACCCAGCTTCCATCCCACCCTAACTACCCTTCTTGTTTGGCTTGAGACGCTGCTGCCATCACAAGAGGAAGGGAAACAGAGGCAGTGGTGCTGTCACTACACAGGTGACACTACACAGGTCATACCATAAACCCCCTTTATGGCACTAAGAGACCACATGTTCAGCTAAGACATGGTCTATGCCTTCAAAAACCTCATGGGCAAGTATGTCAAAAAATTCAAAACAATTTATGACAGCAGATGTTGGATGTCTACTTAAACGTGGTGTCCAGTATATTTCTGAGGGATAATAAAAAAAAAGTCCTGCCCTAGGGATGAAATTCCATATTAAAAGATATTATCTTGGGGAGAAGGGGAGGCTGGTACCTTGGAAAATGTCAAATAGCACATGGAAAAAGAAAAAGAAGAAAGAAGGCTGGATGTAGCAGCTCACACCTATAATATCAGCACTTGGGAAGGCTGAAGTGGGAGGACTGCTTGAGGCCAGGAGTTCAAAACTAGCCTAGTCAACATAGTGAGGCCCCATCTCGAATGAATAAATGAATGAATGAATTAAAGAAATAACAAAAAATAAATAGCATATGAAACTTAAAAATTACAGGTTCGTGCCAGGTGCGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCGACACGGAGAAACCCATCTCTACTAAAAATACAAAGTTAGCTGAGCTTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATCGCCTGAACCCGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCGCCATGCACTCCAGCCTGAGCAACAAAAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTACAGGCTTGGGCTAGGCATGGTAGCTCCCACCTATAATCCTAGCACTTTGGGAAACCAAGGCAGGAGGATCACTTGAGGCTGGGAGTTTGAGACCGGCCCAGGGAACATAGAAAGAGACCTCATCTCAACCAAAAAAAAAAAAAAATTTTTTTTTAACTAGCTGGGCATGGTGGCATATACCTGTAGTTCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCATTTAAGTCCAGAAGTTTGAGGCCACACTACAGCCAGTTTTATGGGCAACCATTCTCTTCCTTTCCCATGGTCCCTATCCAAGCCCACAGAATACAAACTTCTTAGAAGTTTTGGGAAGGTGACCCATGCCCCTACTTCTTCCCACAGTGACAGTGACTCATCTGATTGGTAAGATGGAGAGAAAGACTCTGTGTACACACAGATCTTCAAAGAACCCAGCACCTAAGCTGGTGCCTCCCTCCTCTCACTCTTGCCTTCCTAGGGCCCACCATAAGCAAGAGCAGCAGCCTGGTTTCTAGAAGCAGGTCTAGAGGCCTATCCCTCTGCCTTGTTGGTCTATGGCAGCTGAAGCTCCATATGGATGGCTGGGGTGGGGTGGGGGTGCTGCTCTGCACATCCAGTCTCTCTACCCCAAGATCTAACTCAGGGCACAGGCATTGGAAAGCCCCTATGGTTACCAGCTCAAGCCACACTTTCCATTCTAGTTTTACCAACAATACAGCTGATGTTTTAACCTTCATTCCTTTCTCATGTCTATTTCTCAAGCAGGACTACACTTAAAGGGAGAAAACATGATTAACGATCACCCACAGAAACCCACCTCTAATACCTTCGTAAAAAACTGTATTGGCTCCCCACTGCTTCCAGCTATAAACATCTCAGGCCAACACAGAAAGCTGTTTCACACAATTGATAACTTCAACTTTCCCTCCCTGTGCCTTGGTCACCCCAGACTCCCAACTCTTCCCTGCATGCAGTGTGTTTCCACACTCTCTTC
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CCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGTGAGAGTTTTCTGCACGTACTCCATCGCTGACAAAAGCCCCGCCAGCTCACTCACGATGCTCTGGTTGGAAACCAAAACAAAGTCAGAAAACATTTCCTCAGACTGTCTCTAACCACATTCTTTAGTCAACTCCAGAGCAGGAACTTCTTAGAAACCAAGCAAGTTCTGCCACAAGACGCTGAAATCCCGCAAGTGAGCGAGACACATGGGGGAAGTGGTCCGACCTATGCCCTTACTCTCCGCATCTGGTCCAGCGCAGTGAGCATCTGTTCCAGCTGCTGCATCTTCTGCCTGGTCACTGACTGGTTGTTTCCATTCAGATCTTGCATGTCTGCGAAGGAAGAAAAAACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGTCCTTAATGACCAGGCTCCTTTGAGGACCCGTACCTCCCTTGCGCCCCGCCCGCCTTAAGATCTAAACAGAGTTAAGACAAATGAGTCTTTCAACTCAACAACACAAACTCACTTTCTAGAGATTTTAACATCTCTAATATTCACTTGCCTCCTTGACTCTTGAGGGTTTTATAGTTGAAATCAAAGTCATCCTGGAGATTCTCTACCACTTTCATTTTCTGTTCTAGATCCTGTTTAAAATAAGCAAACAAAAAAACAGAAGTAAAGAAAGATTTCCTTGGGAACAGAAAATATAAAGTTTCTGAGGAGAATTCAAATGAAGCCAAAACCTCAAAAAAGATACATGCAGGACCTGCAGGCAGTATCCCCAAGAGAAGGCTCCCTGTTGGCCAGGTGCAGTGGCTCACGCCTGTAATGCCAGCACTTTGAGAGGCTGAGTTGGGAGGATCACTTGAGCCCAGGAGTTCATGATCAGCCTGGACAACACAGGGAGACCCCCATCTCTACAAATTTTTTTTTTTTAATTAGCTGGGCGTGGTGGTGCATGCCTGTGGTCCCGGCTACTTGGGAGGATGAGGTAGGAGGATCGCTTGGGCCTGAGAGGTCGAGGCTGCAGTGAGCTGTGATCATGCCACTGCAGCCCAGCCTGAGTGGCAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAATTAATGAAAGCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCAGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTATGGGGAGAGGAATACCTCTACCCAGCTTCCATCCCACCCTAACTACCCTTCTTGTTTGGCTTGAGACGCTGCTGCCATCACAAGAGGAAGGGAAACAGAGGCAGTGGTGCTGTCACTACACAGGTGACACTACACAGGTCATACCATAAACCCCCTTTATGGCACTAAGAGACCACATGTTCAGCTAAGACATGGTCTATGCCTTCAAAAACCTCATGGGCAAGTATGTCAAAAAATTCAAAACAATTTATGACAGCAGATGTTGGATGTCTACTTAAACGTGGTGTCCAGTATATTTCTGAGGGATAATAAAAAAAAAGTCCTGCCCTAGGGATGAAATTCCATATTAAAAGATATTATCTTGGGGAGAAGGGGAGGCTGGTACCTTGGAAAATGTCAAATAGCACATGGAAAAAGAAAAAGAAGAAAGAAGGCTGGATGTAGCAGCTCACACCTATAATATCAGCACTTGGGAAGGCTGAAGTGGGAGGACTGCTTGAGGCCAGGAGTTCAAAACTAGCCTAGTCAACATAGTGAGGCCCCATCTCGAATGAATAAATGAATGAATGAATTAAAGAAATAACAAAAAATAAATAGCATATGAAACTTAAAAATTACAGGTTCGTGCCAGGTGCGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCGACACGGAGAAACCCATCTCTACTAAAAATACAAAGTTAGCTGAGCTTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATCGCCTGAACCCGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCGCCATGCACTCCAGCCTGAGCAACAAAAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTACAGGCTTGGGCTAGGCATGGTAGCTCCCACCTATAATCCTAGCACTTTGGGAAACCAAGGCAGGAGGATCACTTGAGGCTGGGAGTTTGAGACCGGCCCAGGGAACATAGAAAGAGACCTCATCTCAACCAAAAAAAAAAAAAAATTTTTTTTTAACTAGCTGGGCATGGTGGCATATACCTGTAGTTCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCATTTAAGTCCAGAAGTTTGAGGCCACACTACAGCCAGTTTTATGGGCAACCATTCTCTTCCTTTCCCATGGTCCCTATCCAAGCCCACAGAATACAAACTTCTTAGAAGTTTTGGGAAGGTGACCCATGCCCCTACTTCTTCCCACAGTGACAGTGACTCATCTGATTGGTAAGATGGAGAGAAAGACTCTGTGTACACACAGATCTTCAAAGAACCCAGCACCTAAGCTGGTGCCTCCCTCCTCTCACTCTTGCCTTCCTAGGGCCCACCATAAGCAAGAGCAGCAGCCTGGTTTCTAGAAGCAGGTCTAGAGGCCTATCCCTCTGCCTTGTTGGTCTATGGCAGCTGAAGCTCCATATGGATGGCTGGGGTGGGGTGGGGGTGCTGCTCTGCACATCCAGTCTCTCTACCCCAAGATCTAACTCAGGGCACAGGCATTGGAAAGCCCCTATGGTTACCAGCTCAAGCCACACTTTCCATTCTAGTTTTACCAACAATACAGCTGATGTTTTAACCTTCATTCCTTTCTCATGTCTATTTCTCAAGCAGGACTACACTTAAAGGGAGAAAACATGATTAACGATCACCCACAGAAACCCACCTCTAATACCTTCGTAAAAAACTGTATTGGCTCCCCACTGCTTCCAGCTATAAACATCTCAGGCCAACACAGAAAGCTGTTTCACACAATTGATAACTTCAACTTTCCCTCCCTGTGCCTTGGTCACCCCAGACTCCCAACTCTTCCCTGCATGCAGTGTGTTTCCACACTCTCTTC
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Task1_train_24426
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This mutation occurs in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; STAT3 gain of function
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CCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGTGAGAGTTTTCTGCACGTACTCCATCGCTGACAAAAGCCCCGCCAGCTCACTCACGATGCTCTGGTTGGAAACCAAAACAAAGTCAGAAAACATTTCCTCAGACTGTCTCTAACCACATTCTTTAGTCAACTCCAGAGCAGGAACTTCTTAGAAACCAAGCAAGTTCTGCCACAAGACGCTGAAATCCCGCAAGTGAGCGAGACACATGGGGGAAGTGGTCCGACCTATGCCCTTACTCTCCGCATCTGGTCCAGCGCAGTGAGCATCTGTTCCAGCTGCTGCATCTTCTGCCTGGTCACTGACTGGTTGTTTCCATTCAGATCTTGCATGTCTGCGAAGGAAGAAAAAACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGTCCTTAATGACCAGGCTCCTTTGAGGACCCGTACCTCCCTTGCGCCCCGCCCGCCTTAAGATCTAAACAGAGTTAAGACAAATGAGTCTTTCAACTCAACAACACAAACTCACTTTCTAGAGATTTTAACATCTCTAATATTCACTTGCCTCCTTGACTCTTGAGGGTTTTATAGTTGAAATCAAAGTCATCCTGGAGATTCTCTACCACTTTCATTTTCTGTTCTAGATCCTGTTTAAAATAAGCAAACAAAAAAACAGAAGTAAAGAAAGATTTCCTTGGGAACAGAAAATATAAAGTTTCTGAGGAGAATTCAAATGAAGCCAAAACCTCAAAAAAGATACATGCAGGACCTGCAGGCAGTATCCCCAAGAGAAGGCTCCCTGTTGGCCAGGTGCAGTGGCTCACGCCTGTAATGCCAGCACTTTGAGAGGCTGAGTTGGGAGGATCACTTGAGCCCAGGAGTTCATGATCAGCCTGGACAACACAGGGAGACCCCCATCTCTACAAATTTTTTTTTTTTAATTAGCTGGGCGTGGTGGTGCATGCCTGTGGTCCCGGCTACTTGGGAGGATGAGGTAGGAGGATCGCTTGGGCCTGAGAGGTCGAGGCTGCAGTGAGCTGTGATCATGCCACTGCAGCCCAGCCTGAGTGGCAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAATTAATGAAAGCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTATGGGGAGAGGAATACCTCTACCCAGCTTCCATCCCACCCTAACTACCCTTCTTGTTTGGCTTGAGACGCTGCTGCCATCACAAGAGGAAGGGAAACAGAGGCAGTGGTGCTGTCACTACACAGGTGACACTACACAGGTCATACCATAAACCCCCTTTATGGCACTAAGAGACCACATGTTCAGCTAAGACATGGTCTATGCCTTCAAAAACCTCATGGGCAAGTATGTCAAAAAATTCAAAACAATTTATGACAGCAGATGTTGGATGTCTACTTAAACGTGGTGTCCAGTATATTTCTGAGGGATAATAAAAAAAAAGTCCTGCCCTAGGGATGAAATTCCATATTAAAAGATATTATCTTGGGGAGAAGGGGAGGCTGGTACCTTGGAAAATGTCAAATAGCACATGGAAAAAGAAAAAGAAGAAAGAAGGCTGGATGTAGCAGCTCACACCTATAATATCAGCACTTGGGAAGGCTGAAGTGGGAGGACTGCTTGAGGCCAGGAGTTCAAAACTAGCCTAGTCAACATAGTGAGGCCCCATCTCGAATGAATAAATGAATGAATGAATTAAAGAAATAACAAAAAATAAATAGCATATGAAACTTAAAAATTACAGGTTCGTGCCAGGTGCGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCGACACGGAGAAACCCATCTCTACTAAAAATACAAAGTTAGCTGAGCTTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATCGCCTGAACCCGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCGCCATGCACTCCAGCCTGAGCAACAAAAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTACAGGCTTGGGCTAGGCATGGTAGCTCCCACCTATAATCCTAGCACTTTGGGAAACCAAGGCAGGAGGATCACTTGAGGCTGGGAGTTTGAGACCGGCCCAGGGAACATAGAAAGAGACCTCATCTCAACCAAAAAAAAAAAAAAATTTTTTTTTAACTAGCTGGGCATGGTGGCATATACCTGTAGTTCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCATTTAAGTCCAGAAGTTTGAGGCCACACTACAGCCAGTTTTATGGGCAACCATTCTCTTCCTTTCCCATGGTCCCTATCCAAGCCCACAGAATACAAACTTCTTAGAAGTTTTGGGAAGGTGACCCATGCCCCTACTTCTTCCCACAGTGACAGTGACTCATCTGATTGGTAAGATGGAGAGAAAGACTCTGTGTACACACAGATCTTCAAAGAACCCAGCACCTAAGCTGGTGCCTCCCTCCTCTCACTCTTGCCTTCCTAGGGCCCACCATAAGCAAGAGCAGCAGCCTGGTTTCTAGAAGCAGGTCTAGAGGCCTATCCCTCTGCCTTGTTGGTCTATGGCAGCTGAAGCTCCATATGGATGGCTGGGGTGGGGTGGGGGTGCTGCTCTGCACATCCAGTCTCTCTACCCCAAGATCTAACTCAGGGCACAGGCATTGGAAAGCCCCTATGGTTACCAGCTCAAGCCACACTTTCCATTCTAGTTTTACCAACAATACAGCTGATGTTTTAACCTTCATTCCTTTCTCATGTCTATTTCTCAAGCAGGACTACACTTAAAGGGAGAAAACATGATTAACGATCACCCACAGAAACCCACCTCTAATACCTTCGTAAAAAACTGTATTGGCTCCCCACTGCTTCCAGCTATAAACATCTCAGGCCAACACAGAAAGCTGTTTCACACAATTGATAACTTCAACTTTCCCTCCCTGTGCCTTGGTCACCCCAGACTCCCAACTCTTCCCTGCATGCAGTGTGTTTCCACACTCTCTTC
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CCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGTGAGAGTTTTCTGCACGTACTCCATCGCTGACAAAAGCCCCGCCAGCTCACTCACGATGCTCTGGTTGGAAACCAAAACAAAGTCAGAAAACATTTCCTCAGACTGTCTCTAACCACATTCTTTAGTCAACTCCAGAGCAGGAACTTCTTAGAAACCAAGCAAGTTCTGCCACAAGACGCTGAAATCCCGCAAGTGAGCGAGACACATGGGGGAAGTGGTCCGACCTATGCCCTTACTCTCCGCATCTGGTCCAGCGCAGTGAGCATCTGTTCCAGCTGCTGCATCTTCTGCCTGGTCACTGACTGGTTGTTTCCATTCAGATCTTGCATGTCTGCGAAGGAAGAAAAAACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGTCCTTAATGACCAGGCTCCTTTGAGGACCCGTACCTCCCTTGCGCCCCGCCCGCCTTAAGATCTAAACAGAGTTAAGACAAATGAGTCTTTCAACTCAACAACACAAACTCACTTTCTAGAGATTTTAACATCTCTAATATTCACTTGCCTCCTTGACTCTTGAGGGTTTTATAGTTGAAATCAAAGTCATCCTGGAGATTCTCTACCACTTTCATTTTCTGTTCTAGATCCTGTTTAAAATAAGCAAACAAAAAAACAGAAGTAAAGAAAGATTTCCTTGGGAACAGAAAATATAAAGTTTCTGAGGAGAATTCAAATGAAGCCAAAACCTCAAAAAAGATACATGCAGGACCTGCAGGCAGTATCCCCAAGAGAAGGCTCCCTGTTGGCCAGGTGCAGTGGCTCACGCCTGTAATGCCAGCACTTTGAGAGGCTGAGTTGGGAGGATCACTTGAGCCCAGGAGTTCATGATCAGCCTGGACAACACAGGGAGACCCCCATCTCTACAAATTTTTTTTTTTTAATTAGCTGGGCGTGGTGGTGCATGCCTGTGGTCCCGGCTACTTGGGAGGATGAGGTAGGAGGATCGCTTGGGCCTGAGAGGTCGAGGCTGCAGTGAGCTGTGATCATGCCACTGCAGCCCAGCCTGAGTGGCAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAATTAATGAAAGCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCAGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTATGGGGAGAGGAATACCTCTACCCAGCTTCCATCCCACCCTAACTACCCTTCTTGTTTGGCTTGAGACGCTGCTGCCATCACAAGAGGAAGGGAAACAGAGGCAGTGGTGCTGTCACTACACAGGTGACACTACACAGGTCATACCATAAACCCCCTTTATGGCACTAAGAGACCACATGTTCAGCTAAGACATGGTCTATGCCTTCAAAAACCTCATGGGCAAGTATGTCAAAAAATTCAAAACAATTTATGACAGCAGATGTTGGATGTCTACTTAAACGTGGTGTCCAGTATATTTCTGAGGGATAATAAAAAAAAAGTCCTGCCCTAGGGATGAAATTCCATATTAAAAGATATTATCTTGGGGAGAAGGGGAGGCTGGTACCTTGGAAAATGTCAAATAGCACATGGAAAAAGAAAAAGAAGAAAGAAGGCTGGATGTAGCAGCTCACACCTATAATATCAGCACTTGGGAAGGCTGAAGTGGGAGGACTGCTTGAGGCCAGGAGTTCAAAACTAGCCTAGTCAACATAGTGAGGCCCCATCTCGAATGAATAAATGAATGAATGAATTAAAGAAATAACAAAAAATAAATAGCATATGAAACTTAAAAATTACAGGTTCGTGCCAGGTGCGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCGACACGGAGAAACCCATCTCTACTAAAAATACAAAGTTAGCTGAGCTTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATCGCCTGAACCCGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCGCCATGCACTCCAGCCTGAGCAACAAAAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTACAGGCTTGGGCTAGGCATGGTAGCTCCCACCTATAATCCTAGCACTTTGGGAAACCAAGGCAGGAGGATCACTTGAGGCTGGGAGTTTGAGACCGGCCCAGGGAACATAGAAAGAGACCTCATCTCAACCAAAAAAAAAAAAAAATTTTTTTTTAACTAGCTGGGCATGGTGGCATATACCTGTAGTTCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCATTTAAGTCCAGAAGTTTGAGGCCACACTACAGCCAGTTTTATGGGCAACCATTCTCTTCCTTTCCCATGGTCCCTATCCAAGCCCACAGAATACAAACTTCTTAGAAGTTTTGGGAAGGTGACCCATGCCCCTACTTCTTCCCACAGTGACAGTGACTCATCTGATTGGTAAGATGGAGAGAAAGACTCTGTGTACACACAGATCTTCAAAGAACCCAGCACCTAAGCTGGTGCCTCCCTCCTCTCACTCTTGCCTTCCTAGGGCCCACCATAAGCAAGAGCAGCAGCCTGGTTTCTAGAAGCAGGTCTAGAGGCCTATCCCTCTGCCTTGTTGGTCTATGGCAGCTGAAGCTCCATATGGATGGCTGGGGTGGGGTGGGGGTGCTGCTCTGCACATCCAGTCTCTCTACCCCAAGATCTAACTCAGGGCACAGGCATTGGAAAGCCCCTATGGTTACCAGCTCAAGCCACACTTTCCATTCTAGTTTTACCAACAATACAGCTGATGTTTTAACCTTCATTCCTTTCTCATGTCTATTTCTCAAGCAGGACTACACTTAAAGGGAGAAAACATGATTAACGATCACCCACAGAAACCCACCTCTAATACCTTCGTAAAAAACTGTATTGGCTCCCCACTGCTTCCAGCTATAAACATCTCAGGCCAACACAGAAAGCTGTTTCACACAATTGATAACTTCAACTTTCCCTCCCTGTGCCTTGGTCACCCCAGACTCCCAACTCTTCCCTGCATGCAGTGTGTTTCCACACTCTCTTC
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Task1_train_24427
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This variant affects gene STAT3 (signal transducer and activator of transcription 3) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; STAT3-related early-onset multisystem autoimmune disease
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CCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGTGAGAGTTTTCTGCACGTACTCCATCGCTGACAAAAGCCCCGCCAGCTCACTCACGATGCTCTGGTTGGAAACCAAAACAAAGTCAGAAAACATTTCCTCAGACTGTCTCTAACCACATTCTTTAGTCAACTCCAGAGCAGGAACTTCTTAGAAACCAAGCAAGTTCTGCCACAAGACGCTGAAATCCCGCAAGTGAGCGAGACACATGGGGGAAGTGGTCCGACCTATGCCCTTACTCTCCGCATCTGGTCCAGCGCAGTGAGCATCTGTTCCAGCTGCTGCATCTTCTGCCTGGTCACTGACTGGTTGTTTCCATTCAGATCTTGCATGTCTGCGAAGGAAGAAAAAACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGTCCTTAATGACCAGGCTCCTTTGAGGACCCGTACCTCCCTTGCGCCCCGCCCGCCTTAAGATCTAAACAGAGTTAAGACAAATGAGTCTTTCAACTCAACAACACAAACTCACTTTCTAGAGATTTTAACATCTCTAATATTCACTTGCCTCCTTGACTCTTGAGGGTTTTATAGTTGAAATCAAAGTCATCCTGGAGATTCTCTACCACTTTCATTTTCTGTTCTAGATCCTGTTTAAAATAAGCAAACAAAAAAACAGAAGTAAAGAAAGATTTCCTTGGGAACAGAAAATATAAAGTTTCTGAGGAGAATTCAAATGAAGCCAAAACCTCAAAAAAGATACATGCAGGACCTGCAGGCAGTATCCCCAAGAGAAGGCTCCCTGTTGGCCAGGTGCAGTGGCTCACGCCTGTAATGCCAGCACTTTGAGAGGCTGAGTTGGGAGGATCACTTGAGCCCAGGAGTTCATGATCAGCCTGGACAACACAGGGAGACCCCCATCTCTACAAATTTTTTTTTTTTAATTAGCTGGGCGTGGTGGTGCATGCCTGTGGTCCCGGCTACTTGGGAGGATGAGGTAGGAGGATCGCTTGGGCCTGAGAGGTCGAGGCTGCAGTGAGCTGTGATCATGCCACTGCAGCCCAGCCTGAGTGGCAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAATTAATGAAAGCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTATGGGGAGAGGAATACCTCTACCCAGCTTCCATCCCACCCTAACTACCCTTCTTGTTTGGCTTGAGACGCTGCTGCCATCACAAGAGGAAGGGAAACAGAGGCAGTGGTGCTGTCACTACACAGGTGACACTACACAGGTCATACCATAAACCCCCTTTATGGCACTAAGAGACCACATGTTCAGCTAAGACATGGTCTATGCCTTCAAAAACCTCATGGGCAAGTATGTCAAAAAATTCAAAACAATTTATGACAGCAGATGTTGGATGTCTACTTAAACGTGGTGTCCAGTATATTTCTGAGGGATAATAAAAAAAAAGTCCTGCCCTAGGGATGAAATTCCATATTAAAAGATATTATCTTGGGGAGAAGGGGAGGCTGGTACCTTGGAAAATGTCAAATAGCACATGGAAAAAGAAAAAGAAGAAAGAAGGCTGGATGTAGCAGCTCACACCTATAATATCAGCACTTGGGAAGGCTGAAGTGGGAGGACTGCTTGAGGCCAGGAGTTCAAAACTAGCCTAGTCAACATAGTGAGGCCCCATCTCGAATGAATAAATGAATGAATGAATTAAAGAAATAACAAAAAATAAATAGCATATGAAACTTAAAAATTACAGGTTCGTGCCAGGTGCGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCGACACGGAGAAACCCATCTCTACTAAAAATACAAAGTTAGCTGAGCTTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATCGCCTGAACCCGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCGCCATGCACTCCAGCCTGAGCAACAAAAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTACAGGCTTGGGCTAGGCATGGTAGCTCCCACCTATAATCCTAGCACTTTGGGAAACCAAGGCAGGAGGATCACTTGAGGCTGGGAGTTTGAGACCGGCCCAGGGAACATAGAAAGAGACCTCATCTCAACCAAAAAAAAAAAAAAATTTTTTTTTAACTAGCTGGGCATGGTGGCATATACCTGTAGTTCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCATTTAAGTCCAGAAGTTTGAGGCCACACTACAGCCAGTTTTATGGGCAACCATTCTCTTCCTTTCCCATGGTCCCTATCCAAGCCCACAGAATACAAACTTCTTAGAAGTTTTGGGAAGGTGACCCATGCCCCTACTTCTTCCCACAGTGACAGTGACTCATCTGATTGGTAAGATGGAGAGAAAGACTCTGTGTACACACAGATCTTCAAAGAACCCAGCACCTAAGCTGGTGCCTCCCTCCTCTCACTCTTGCCTTCCTAGGGCCCACCATAAGCAAGAGCAGCAGCCTGGTTTCTAGAAGCAGGTCTAGAGGCCTATCCCTCTGCCTTGTTGGTCTATGGCAGCTGAAGCTCCATATGGATGGCTGGGGTGGGGTGGGGGTGCTGCTCTGCACATCCAGTCTCTCTACCCCAAGATCTAACTCAGGGCACAGGCATTGGAAAGCCCCTATGGTTACCAGCTCAAGCCACACTTTCCATTCTAGTTTTACCAACAATACAGCTGATGTTTTAACCTTCATTCCTTTCTCATGTCTATTTCTCAAGCAGGACTACACTTAAAGGGAGAAAACATGATTAACGATCACCCACAGAAACCCACCTCTAATACCTTCGTAAAAAACTGTATTGGCTCCCCACTGCTTCCAGCTATAAACATCTCAGGCCAACACAGAAAGCTGTTTCACACAATTGATAACTTCAACTTTCCCTCCCTGTGCCTTGGTCACCCCAGACTCCCAACTCTTCCCTGCATGCAGTGTGTTTCCACACTCTCTTC
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CCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGTGAGAGTTTTCTGCACGTACTCCATCGCTGACAAAAGCCCCGCCAGCTCACTCACGATGCTCTGGTTGGAAACCAAAACAAAGTCAGAAAACATTTCCTCAGACTGTCTCTAACCACATTCTTTAGTCAACTCCAGAGCAGGAACTTCTTAGAAACCAAGCAAGTTCTGCCACAAGACGCTGAAATCCCGCAAGTGAGCGAGACACATGGGGGAAGTGGTCCGACCTATGCCCTTACTCTCCGCATCTGGTCCAGCGCAGTGAGCATCTGTTCCAGCTGCTGCATCTTCTGCCTGGTCACTGACTGGTTGTTTCCATTCAGATCTTGCATGTCTGCGAAGGAAGAAAAAACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGTCCTTAATGACCAGGCTCCTTTGAGGACCCGTACCTCCCTTGCGCCCCGCCCGCCTTAAGATCTAAACAGAGTTAAGACAAATGAGTCTTTCAACTCAACAACACAAACTCACTTTCTAGAGATTTTAACATCTCTAATATTCACTTGCCTCCTTGACTCTTGAGGGTTTTATAGTTGAAATCAAAGTCATCCTGGAGATTCTCTACCACTTTCATTTTCTGTTCTAGATCCTGTTTAAAATAAGCAAACAAAAAAACAGAAGTAAAGAAAGATTTCCTTGGGAACAGAAAATATAAAGTTTCTGAGGAGAATTCAAATGAAGCCAAAACCTCAAAAAAGATACATGCAGGACCTGCAGGCAGTATCCCCAAGAGAAGGCTCCCTGTTGGCCAGGTGCAGTGGCTCACGCCTGTAATGCCAGCACTTTGAGAGGCTGAGTTGGGAGGATCACTTGAGCCCAGGAGTTCATGATCAGCCTGGACAACACAGGGAGACCCCCATCTCTACAAATTTTTTTTTTTTAATTAGCTGGGCGTGGTGGTGCATGCCTGTGGTCCCGGCTACTTGGGAGGATGAGGTAGGAGGATCGCTTGGGCCTGAGAGGTCGAGGCTGCAGTGAGCTGTGATCATGCCACTGCAGCCCAGCCTGAGTGGCAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAATTAATGAAAGCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCAGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTATGGGGAGAGGAATACCTCTACCCAGCTTCCATCCCACCCTAACTACCCTTCTTGTTTGGCTTGAGACGCTGCTGCCATCACAAGAGGAAGGGAAACAGAGGCAGTGGTGCTGTCACTACACAGGTGACACTACACAGGTCATACCATAAACCCCCTTTATGGCACTAAGAGACCACATGTTCAGCTAAGACATGGTCTATGCCTTCAAAAACCTCATGGGCAAGTATGTCAAAAAATTCAAAACAATTTATGACAGCAGATGTTGGATGTCTACTTAAACGTGGTGTCCAGTATATTTCTGAGGGATAATAAAAAAAAAGTCCTGCCCTAGGGATGAAATTCCATATTAAAAGATATTATCTTGGGGAGAAGGGGAGGCTGGTACCTTGGAAAATGTCAAATAGCACATGGAAAAAGAAAAAGAAGAAAGAAGGCTGGATGTAGCAGCTCACACCTATAATATCAGCACTTGGGAAGGCTGAAGTGGGAGGACTGCTTGAGGCCAGGAGTTCAAAACTAGCCTAGTCAACATAGTGAGGCCCCATCTCGAATGAATAAATGAATGAATGAATTAAAGAAATAACAAAAAATAAATAGCATATGAAACTTAAAAATTACAGGTTCGTGCCAGGTGCGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCGACACGGAGAAACCCATCTCTACTAAAAATACAAAGTTAGCTGAGCTTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATCGCCTGAACCCGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCGCCATGCACTCCAGCCTGAGCAACAAAAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTACAGGCTTGGGCTAGGCATGGTAGCTCCCACCTATAATCCTAGCACTTTGGGAAACCAAGGCAGGAGGATCACTTGAGGCTGGGAGTTTGAGACCGGCCCAGGGAACATAGAAAGAGACCTCATCTCAACCAAAAAAAAAAAAAAATTTTTTTTTAACTAGCTGGGCATGGTGGCATATACCTGTAGTTCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCATTTAAGTCCAGAAGTTTGAGGCCACACTACAGCCAGTTTTATGGGCAACCATTCTCTTCCTTTCCCATGGTCCCTATCCAAGCCCACAGAATACAAACTTCTTAGAAGTTTTGGGAAGGTGACCCATGCCCCTACTTCTTCCCACAGTGACAGTGACTCATCTGATTGGTAAGATGGAGAGAAAGACTCTGTGTACACACAGATCTTCAAAGAACCCAGCACCTAAGCTGGTGCCTCCCTCCTCTCACTCTTGCCTTCCTAGGGCCCACCATAAGCAAGAGCAGCAGCCTGGTTTCTAGAAGCAGGTCTAGAGGCCTATCCCTCTGCCTTGTTGGTCTATGGCAGCTGAAGCTCCATATGGATGGCTGGGGTGGGGTGGGGGTGCTGCTCTGCACATCCAGTCTCTCTACCCCAAGATCTAACTCAGGGCACAGGCATTGGAAAGCCCCTATGGTTACCAGCTCAAGCCACACTTTCCATTCTAGTTTTACCAACAATACAGCTGATGTTTTAACCTTCATTCCTTTCTCATGTCTATTTCTCAAGCAGGACTACACTTAAAGGGAGAAAACATGATTAACGATCACCCACAGAAACCCACCTCTAATACCTTCGTAAAAAACTGTATTGGCTCCCCACTGCTTCCAGCTATAAACATCTCAGGCCAACACAGAAAGCTGTTTCACACAATTGATAACTTCAACTTTCCCTCCCTGTGCCTTGGTCACCCCAGACTCCCAACTCTTCCCTGCATGCAGTGTGTTTCCACACTCTCTTC
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Task1_train_24428
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Chromosome 17 houses a mutation in gene ATP6V0A1 (ATPase H+ transporting V0 subunit a1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Developmental and epileptic encephalopathy 104
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AGGAACTGTTTTAAGCAAAATGTTTCTTCTAAGATGTCTGATATTTTTAAATGGCTTTTTTTTTGGCTTCCCTGTTCCAAGGTTAGACAGAAAAAATGTAGCAAGTATTGGCCACTTTAGGTACAACACAGATTTCTCCTATATTTGGAGAGTTAATTATTAAATCAAGAGTGTGAGTATTCATTTTCAGTTGGAGCCCTATGGAAGAACTGCTTTGCTCTGGGCTCTCTCCATCTGTACGTTATCTGATATTTAGCTTTATATCACTGGGACATGGTTGCTGCACAAAGAGAAGACAGCTGGCCTGCCCTGGGAGCAGGGTCCCACGAGTTACAAGAGAGTCAGAGAACAAACCAATGTTGTCAAGGTTACACCTTCATTTCCACTGTTCTTTGTTTGAAATGTTATCAGAGCTGCCAGGCACAGTGCCTCATGCCTGTAATCTCGGATATTCAGGAGGCTGAGGTGGGAGGATTGCTCAAGGCCACAAGTTCAGGACTAGCTTGGGCAAAATAGTGAGATTCCATCTAAAAAAATATTATTTATCAGTAATTTTAAAACAAAATTAACTGGGCATGGTGGCACATACTTGTAGTTCCAACTGTTTGGGAGGCTGAGGTGGGAGGATAACTTGAGTCCAGGGGTTGCAGGCTGCAGTGAGCTGTGATGAAACCACTGCACTCCAGCCTGGGTGGCAGAGAAAGACCCCATCTCTCTTTTAAAAAAAGTTATCAGTAGCTCAAATTTCATTAGCTACTTTGTGAAGATGTGTTGATTCTGCCATGAAAGATTTTCTCTGAGAGTCCTATCTGTCTGGCAGCTGGGGAGTAAGTCACCTTATATTGATCTTAAGATTATGGAAGCCTGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGAGTCGGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTGAGACATTGCTGGCTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAGGGGGGTGGGTATGGAAAAGAATGTAATATTTGTGGAATTGCTATGGTTTAATGTACTTTGTATTTTTCTTTTTTTGGTTTCTTCATAGCTCCGTATACTATTATCACGTTCCCTTTTCTATTTGCTGTGATGTTTGGAGACTTCGGTCATGGCATTTTAATGACCCTTTTTGCTGTGTGGATGGTACTGAGGGAGAGCCGGATCCTTTCCCAGAAGAATGAGAATGAGGTAATGTTTAAGTTACATCTGCATTGAACTGAAATTTTATAATTTCCCAAGCATTCATTATGAAAATTATGATCTGGAAGTCTTTTATCCATGAATTTATCAAAAGGAAGTAGAGAAGTTATGTTCATTTTAACACCAAAGACGACATGTGCAAGCTGGAAGTGGTAGTGTGTGCCTGTAGTCCCAGCTACTTGGAGGCTGAGGCAGGAGAATCACTTGAGCCCAGGAATTCGAGACCAGCATAGGCAACATAGTGAGACCCCATCTCTAAAAAAATAAAAATTATTTAGGTTTGGTGCAAAAGTTATTGCGGTTTTGGCTGCCAAAAGAAATGGCCAAAACCGCAGTAACTTTTGTGCCAACCTAATAAAAAAATAGAGGCCACATCCTGTGAAAGTGACTGTCTCATTAGCATTGTATTTTGGTTTTTACTTCAAGCTCTCTGAATCAGGATGGGGTAAAGTAGTGCTGGAGAAAGGGGCAGGTATATTCTGAATAACATTGTCACAATGTGAGCTGCAGTGAGTACATTCTCATTACTTCTTTCTTCTGGTTCCCAGATGTTTAGCACTGTGTTCAGTGGTCGATACATTATTTTATTGATGGGTGTGTTCTCCATGTACACTGGCCTCATCTACAATGATTGCTTTTCCAAGTCTCTTAATATCTTTGGGTCATCCTGGAGTGTACGGCCGATGTTTACTTATAATTGGACGTAAGTTGCAGAAGAAGCTAAAATTCAAAGCTTATTCCTTTCATGTGCAGCCCTGATTTTTAAGACAAGTGGTAAACTGACACTTCTTTAGGAAGTGGTGACAGTGTCTCCTCATTCATGCTCCACACTGTGAGTTGCTTTGTGATTTGTTCAGCAAGTATCCAGGAACTAAGATTAGAAATGATTTTTTTTTTTTTTGGAAACTAAAACCAGATTCCCCAGTTCCCTACTTGATTGTGTGTTTGTGTGTTTAATTTTTCTTTTTGTCATTTTGGATCCCTCAGTCTCAGCTGCTAGTCTCTCCTCTTTATTTTTCCCCTCCCATTTTATTGAAGAGACAAGATAGCTACAGTAATTTATTTTGGGGTCAGTTTCTGGACCCTTGTTGTTTCCCTCTCTTGTTCAAAAATAATGTGACTTTTTCCCTGTCATGGTAGTGAAGAGACGCTTCGGGGGAACCCTGTTCTACAGCTGAACCCAGCCCTCCCTGGAGTGTTTGGTGGACCATACCCTTTTGGCATTGATCCAGTAAGAGGACTTCCTTCCTATATGCTAACCTCAAATTTTTTAACACTAACCCTGAAGCAAGAGAATTAAAATGAAGATAAATAGTTATGTGGGCTTTCACTGGGCATGGTCGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGTGGGATCACCTGAGGTCAGCATGGTGAAACCCTATCTCTACTAAAAATAAAATATTAGCCGGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACCCGGGAGACTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAAGCTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAACAAACAAAAATAGTTATGTGGGTTTTCGTTGACATATTTTTGGGAAACCTTGATGTATGTATTCAGAGGACTTCTAAGCCATAAGAGACCCAAGTGCCTTGAGGAGCCACATACTTTTCCCTGCGCTGCTTATTTCTGAGGTGGTTAATAATATCGACTCTGGGAAGATTGATTTTTCAAGACTCCTTCCCATTTCTTAATTTATTTCTGCTTACTTAGTTTGGTTTTTTATTTTTAGCAGACATTTTAGCAAAGCAGAAATATATTTTTCCTGTGGATTTTAGACTTGCATTCTTATATTTACGAACTTACAAAAACTTATCCGAGAATTAATTTTTTTTTCAAATGCTTAGGCAAATTAAGTATGATCAAGTCTTCTTTATTGTGTGCTGTAAAAATGGAGTGGCGGCAAGAATGTAATACAGGGCATCTGACTGCTGAGGAAAAAAAAAAATAATACAGGCTGGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGACACAGAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCACGGTGGCATATGCCTGTAGTCCCAGCTACAGGAGGCTGTGGAAGAATTGCTTGCGCCCGGGAGGAGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGCACTCCAGCCTGGGGGACATAGCAAGACTCCATCTCAAAAAAATAGATGGAATGACAGCACCACAGGGCTACAATCAGCGAAACATAGACTGTGGGAAAATATATAAGATAAACAACCCAATTTCTTCAAAAGAAATTTTGTAATGAATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGG
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AGGAACTGTTTTAAGCAAAATGTTTCTTCTAAGATGTCTGATATTTTTAAATGGCTTTTTTTTTGGCTTCCCTGTTCCAAGGTTAGACAGAAAAAATGTAGCAAGTATTGGCCACTTTAGGTACAACACAGATTTCTCCTATATTTGGAGAGTTAATTATTAAATCAAGAGTGTGAGTATTCATTTTCAGTTGGAGCCCTATGGAAGAACTGCTTTGCTCTGGGCTCTCTCCATCTGTACGTTATCTGATATTTAGCTTTATATCACTGGGACATGGTTGCTGCACAAAGAGAAGACAGCTGGCCTGCCCTGGGAGCAGGGTCCCACGAGTTACAAGAGAGTCAGAGAACAAACCAATGTTGTCAAGGTTACACCTTCATTTCCACTGTTCTTTGTTTGAAATGTTATCAGAGCTGCCAGGCACAGTGCCTCATGCCTGTAATCTCGGATATTCAGGAGGCTGAGGTGGGAGGATTGCTCAAGGCCACAAGTTCAGGACTAGCTTGGGCAAAATAGTGAGATTCCATCTAAAAAAATATTATTTATCAGTAATTTTAAAACAAAATTAACTGGGCATGGTGGCACATACTTGTAGTTCCAACTGTTTGGGAGGCTGAGGTGGGAGGATAACTTGAGTCCAGGGGTTGCAGGCTGCAGTGAGCTGTGATGAAACCACTGCACTCCAGCCTGGGTGGCAGAGAAAGACCCCATCTCTCTTTTAAAAAAAGTTATCAGTAGCTCAAATTTCATTAGCTACTTTGTGAAGATGTGTTGATTCTGCCATGAAAGATTTTCTCTGAGAGTCCTATCTGTCTGGCAGCTGGGGAGTAAGTCACCTTATATTGATCTTAAGATTATGGAAGCCTGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGAGTCGGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTGAGACATTGCTGGCTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAGGGGGGTGGGTATGGAAAAGAATGTAATATTTGTGGAATTGCTATGGTTTAATGTACTTTGTATTTTTCTTTTTTTGGTTTCTTCATAGCTCCGTATACTATTATCACGTTCCCTTTTCTATTTGCTGTGATGTTTGGAGACTTCGGTCATGGCATTTTAATGACCCTTTTTGCTGTGTGGATGGTACTGAGGGAGAGCCGGATCCTTTCCCAGAAGAATGAGAATGAGGTAATGTTTAAGTTACATCTGCATTGAACTGAAATTTTATAATTTCCCAAGCATTCATTATGAAAATTATGATCTGGAAGTCTTTTATCCATGAATTTATCAAAAGGAAGTAGAGAAGTTATGTTCATTTTAACACCAAAGACGACATGTGCAAGCTGGAAGTGGTAGTGTGTGCCTGTAGTCCCAGCTACTTGGAGGCTGAGGCAGGAGAATCACTTGAGCCCAGGAATTCGAGACCAGCATAGGCAACATAGTGAGACCCCATCTCTAAAAAAATAAAAATTATTTAGGTTTGGTGCAAAAGTTATTGCGGTTTTGGCTGCCAAAAGAAATGGCCAAAACCGCAGTAACTTTTGTGCCAACCTAATAAAAAAATAGAGGCCACATCCTGTGAAAGTGACTGTCTCATTAGCATTGTATTTTGGTTTTTACTTCAAGCTCTCTGAATCAGGATGGGGTAAAGTAGTGCTGGAGAAAGGGGCAGGTATATTCTGAATAACATTGTCACAATGTGAGCTGCAGTGAGTACATTCTCATTACTTCTTTCTTCTGGTTCCCAGATGTTTAGCACTGTGTTCAGTGGTCGATACATTATTTTATTGATGGGTGTGTTCTCCATGTACACTGGCCTCATCTACAATGATTGCTTTTCCAAGTCTCTTAATATCTTTGGGCCATCCTGGAGTGTACGGCCGATGTTTACTTATAATTGGACGTAAGTTGCAGAAGAAGCTAAAATTCAAAGCTTATTCCTTTCATGTGCAGCCCTGATTTTTAAGACAAGTGGTAAACTGACACTTCTTTAGGAAGTGGTGACAGTGTCTCCTCATTCATGCTCCACACTGTGAGTTGCTTTGTGATTTGTTCAGCAAGTATCCAGGAACTAAGATTAGAAATGATTTTTTTTTTTTTTGGAAACTAAAACCAGATTCCCCAGTTCCCTACTTGATTGTGTGTTTGTGTGTTTAATTTTTCTTTTTGTCATTTTGGATCCCTCAGTCTCAGCTGCTAGTCTCTCCTCTTTATTTTTCCCCTCCCATTTTATTGAAGAGACAAGATAGCTACAGTAATTTATTTTGGGGTCAGTTTCTGGACCCTTGTTGTTTCCCTCTCTTGTTCAAAAATAATGTGACTTTTTCCCTGTCATGGTAGTGAAGAGACGCTTCGGGGGAACCCTGTTCTACAGCTGAACCCAGCCCTCCCTGGAGTGTTTGGTGGACCATACCCTTTTGGCATTGATCCAGTAAGAGGACTTCCTTCCTATATGCTAACCTCAAATTTTTTAACACTAACCCTGAAGCAAGAGAATTAAAATGAAGATAAATAGTTATGTGGGCTTTCACTGGGCATGGTCGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGTGGGATCACCTGAGGTCAGCATGGTGAAACCCTATCTCTACTAAAAATAAAATATTAGCCGGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACCCGGGAGACTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAAGCTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAACAAACAAAAATAGTTATGTGGGTTTTCGTTGACATATTTTTGGGAAACCTTGATGTATGTATTCAGAGGACTTCTAAGCCATAAGAGACCCAAGTGCCTTGAGGAGCCACATACTTTTCCCTGCGCTGCTTATTTCTGAGGTGGTTAATAATATCGACTCTGGGAAGATTGATTTTTCAAGACTCCTTCCCATTTCTTAATTTATTTCTGCTTACTTAGTTTGGTTTTTTATTTTTAGCAGACATTTTAGCAAAGCAGAAATATATTTTTCCTGTGGATTTTAGACTTGCATTCTTATATTTACGAACTTACAAAAACTTATCCGAGAATTAATTTTTTTTTCAAATGCTTAGGCAAATTAAGTATGATCAAGTCTTCTTTATTGTGTGCTGTAAAAATGGAGTGGCGGCAAGAATGTAATACAGGGCATCTGACTGCTGAGGAAAAAAAAAAATAATACAGGCTGGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGACACAGAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCACGGTGGCATATGCCTGTAGTCCCAGCTACAGGAGGCTGTGGAAGAATTGCTTGCGCCCGGGAGGAGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGCACTCCAGCCTGGGGGACATAGCAAGACTCCATCTCAAAAAAATAGATGGAATGACAGCACCACAGGGCTACAATCAGCGAAACATAGACTGTGGGAAAATATATAAGATAAACAACCCAATTTCTTCAAAAGAAATTTTGTAATGAATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGG
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Task1_train_24429
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A mutation on Chromosome 17 affecting ATP6V0A1 (ATPase H+ transporting V0 subunit a1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Neurodevelopmental disorder with epilepsy and brain atrophy
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TTCCATCTAAAAAAATATTATTTATCAGTAATTTTAAAACAAAATTAACTGGGCATGGTGGCACATACTTGTAGTTCCAACTGTTTGGGAGGCTGAGGTGGGAGGATAACTTGAGTCCAGGGGTTGCAGGCTGCAGTGAGCTGTGATGAAACCACTGCACTCCAGCCTGGGTGGCAGAGAAAGACCCCATCTCTCTTTTAAAAAAAGTTATCAGTAGCTCAAATTTCATTAGCTACTTTGTGAAGATGTGTTGATTCTGCCATGAAAGATTTTCTCTGAGAGTCCTATCTGTCTGGCAGCTGGGGAGTAAGTCACCTTATATTGATCTTAAGATTATGGAAGCCTGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGAGTCGGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTGAGACATTGCTGGCTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAGGGGGGTGGGTATGGAAAAGAATGTAATATTTGTGGAATTGCTATGGTTTAATGTACTTTGTATTTTTCTTTTTTTGGTTTCTTCATAGCTCCGTATACTATTATCACGTTCCCTTTTCTATTTGCTGTGATGTTTGGAGACTTCGGTCATGGCATTTTAATGACCCTTTTTGCTGTGTGGATGGTACTGAGGGAGAGCCGGATCCTTTCCCAGAAGAATGAGAATGAGGTAATGTTTAAGTTACATCTGCATTGAACTGAAATTTTATAATTTCCCAAGCATTCATTATGAAAATTATGATCTGGAAGTCTTTTATCCATGAATTTATCAAAAGGAAGTAGAGAAGTTATGTTCATTTTAACACCAAAGACGACATGTGCAAGCTGGAAGTGGTAGTGTGTGCCTGTAGTCCCAGCTACTTGGAGGCTGAGGCAGGAGAATCACTTGAGCCCAGGAATTCGAGACCAGCATAGGCAACATAGTGAGACCCCATCTCTAAAAAAATAAAAATTATTTAGGTTTGGTGCAAAAGTTATTGCGGTTTTGGCTGCCAAAAGAAATGGCCAAAACCGCAGTAACTTTTGTGCCAACCTAATAAAAAAATAGAGGCCACATCCTGTGAAAGTGACTGTCTCATTAGCATTGTATTTTGGTTTTTACTTCAAGCTCTCTGAATCAGGATGGGGTAAAGTAGTGCTGGAGAAAGGGGCAGGTATATTCTGAATAACATTGTCACAATGTGAGCTGCAGTGAGTACATTCTCATTACTTCTTTCTTCTGGTTCCCAGATGTTTAGCACTGTGTTCAGTGGTCGATACATTATTTTATTGATGGGTGTGTTCTCCATGTACACTGGCCTCATCTACAATGATTGCTTTTCCAAGTCTCTTAATATCTTTGGGTCATCCTGGAGTGTACGGCCGATGTTTACTTATAATTGGACGTAAGTTGCAGAAGAAGCTAAAATTCAAAGCTTATTCCTTTCATGTGCAGCCCTGATTTTTAAGACAAGTGGTAAACTGACACTTCTTTAGGAAGTGGTGACAGTGTCTCCTCATTCATGCTCCACACTGTGAGTTGCTTTGTGATTTGTTCAGCAAGTATCCAGGAACTAAGATTAGAAATGATTTTTTTTTTTTTTGGAAACTAAAACCAGATTCCCCAGTTCCCTACTTGATTGTGTGTTTGTGTGTTTAATTTTTCTTTTTGTCATTTTGGATCCCTCAGTCTCAGCTGCTAGTCTCTCCTCTTTATTTTTCCCCTCCCATTTTATTGAAGAGACAAGATAGCTACAGTAATTTATTTTGGGGTCAGTTTCTGGACCCTTGTTGTTTCCCTCTCTTGTTCAAAAATAATGTGACTTTTTCCCTGTCATGGTAGTGAAGAGACGCTTCGGGGGAACCCTGTTCTACAGCTGAACCCAGCCCTCCCTGGAGTGTTTGGTGGACCATACCCTTTTGGCATTGATCCAGTAAGAGGACTTCCTTCCTATATGCTAACCTCAAATTTTTTAACACTAACCCTGAAGCAAGAGAATTAAAATGAAGATAAATAGTTATGTGGGCTTTCACTGGGCATGGTCGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGTGGGATCACCTGAGGTCAGCATGGTGAAACCCTATCTCTACTAAAAATAAAATATTAGCCGGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACCCGGGAGACTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAAGCTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAACAAACAAAAATAGTTATGTGGGTTTTCGTTGACATATTTTTGGGAAACCTTGATGTATGTATTCAGAGGACTTCTAAGCCATAAGAGACCCAAGTGCCTTGAGGAGCCACATACTTTTCCCTGCGCTGCTTATTTCTGAGGTGGTTAATAATATCGACTCTGGGAAGATTGATTTTTCAAGACTCCTTCCCATTTCTTAATTTATTTCTGCTTACTTAGTTTGGTTTTTTATTTTTAGCAGACATTTTAGCAAAGCAGAAATATATTTTTCCTGTGGATTTTAGACTTGCATTCTTATATTTACGAACTTACAAAAACTTATCCGAGAATTAATTTTTTTTTCAAATGCTTAGGCAAATTAAGTATGATCAAGTCTTCTTTATTGTGTGCTGTAAAAATGGAGTGGCGGCAAGAATGTAATACAGGGCATCTGACTGCTGAGGAAAAAAAAAAATAATACAGGCTGGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGACACAGAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCACGGTGGCATATGCCTGTAGTCCCAGCTACAGGAGGCTGTGGAAGAATTGCTTGCGCCCGGGAGGAGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGCACTCCAGCCTGGGGGACATAGCAAGACTCCATCTCAAAAAAATAGATGGAATGACAGCACCACAGGGCTACAATCAGCGAAACATAGACTGTGGGAAAATATATAAGATAAACAACCCAATTTCTTCAAAAGAAATTTTGTAATGAATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGGAGGCTAAGGCAGGAGAACAGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGTAACTGCACTCCGGCCTGGGTGACAGAGTGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAATGGTTTGGACACAGATCAGAGAAATTTGAATATTGACTATATATTTTATGATATTAAAGAATCATTGTTAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAGTTCAAGACCTGCCTGGCCAAGATGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAATTCCAGCTACTCGGGAAGTTGAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTAGCGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTAAGACTCCATCTAAAAGAAAAAAAAAAAAAAGAAATCATTGTTAATGCATTTACGTG
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TTCCATCTAAAAAAATATTATTTATCAGTAATTTTAAAACAAAATTAACTGGGCATGGTGGCACATACTTGTAGTTCCAACTGTTTGGGAGGCTGAGGTGGGAGGATAACTTGAGTCCAGGGGTTGCAGGCTGCAGTGAGCTGTGATGAAACCACTGCACTCCAGCCTGGGTGGCAGAGAAAGACCCCATCTCTCTTTTAAAAAAAGTTATCAGTAGCTCAAATTTCATTAGCTACTTTGTGAAGATGTGTTGATTCTGCCATGAAAGATTTTCTCTGAGAGTCCTATCTGTCTGGCAGCTGGGGAGTAAGTCACCTTATATTGATCTTAAGATTATGGAAGCCTGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGAGTCGGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTGAGACATTGCTGGCTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAGGGGGGTGGGTATGGAAAAGAATGTAATATTTGTGGAATTGCTATGGTTTAATGTACTTTGTATTTTTCTTTTTTTGGTTTCTTCATAGCTCCGTATACTATTATCACGTTCCCTTTTCTATTTGCTGTGATGTTTGGAGACTTCGGTCATGGCATTTTAATGACCCTTTTTGCTGTGTGGATGGTACTGAGGGAGAGCCGGATCCTTTCCCAGAAGAATGAGAATGAGGTAATGTTTAAGTTACATCTGCATTGAACTGAAATTTTATAATTTCCCAAGCATTCATTATGAAAATTATGATCTGGAAGTCTTTTATCCATGAATTTATCAAAAGGAAGTAGAGAAGTTATGTTCATTTTAACACCAAAGACGACATGTGCAAGCTGGAAGTGGTAGTGTGTGCCTGTAGTCCCAGCTACTTGGAGGCTGAGGCAGGAGAATCACTTGAGCCCAGGAATTCGAGACCAGCATAGGCAACATAGTGAGACCCCATCTCTAAAAAAATAAAAATTATTTAGGTTTGGTGCAAAAGTTATTGCGGTTTTGGCTGCCAAAAGAAATGGCCAAAACCGCAGTAACTTTTGTGCCAACCTAATAAAAAAATAGAGGCCACATCCTGTGAAAGTGACTGTCTCATTAGCATTGTATTTTGGTTTTTACTTCAAGCTCTCTGAATCAGGATGGGGTAAAGTAGTGCTGGAGAAAGGGGCAGGTATATTCTGAATAACATTGTCACAATGTGAGCTGCAGTGAGTACATTCTCATTACTTCTTTCTTCTGGTTCCCAGATGTTTAGCACTGTGTTCAGTGGTCGATACATTATTTTATTGATGGGTGTGTTCTCCATGTACACTGGCCTCATCTACAATGATTGCTTTTCCAAGTCTCTTAATATCTTTGGGTCATCCTGGAGTGTACGGCCGATGTTTACTTATAATTGGACGTAAGTTGCAGAAGAAGCTAAAATTCAAAGCTTATTCCTTTCATGTGCAGCCCTGATTTTTAAGACAAGTGGTAAACTGACACTTCTTTAGGAAGTGGTGACAGTGTCTCCTCATTCATGCTCCACACTGTGAGTTGCTTTGTGATTTGTTCAGCAAGTATCCAGGAACTAAGATTAGAAATGATTTTTTTTTTTTTTGGAAACTAAAACCAGATTCCCCAGTTCCCTACTTGATTGTGTGTTTGTGTGTTTAATTTTTCTTTTTGTCATTTTGGATCCCTCAGTCTCAGCTGCTAGTCTCTCCTCTTTATTTTTCCCCTCCCATTTTATTGAAGAGACAAGATAGCTACAGTAATTTATTTTGGGGTCAGTTTCTGGACCCTTGTTGTTTCCCTCTCTTGTTCAAAAATAATGTGACTTTTTCCCTGTCATGGTAGTGAAGAGACGCTTCGGGGGAACCCTGTTCTACAGCTGAACCCACCCCTCCCTGGAGTGTTTGGTGGACCATACCCTTTTGGCATTGATCCAGTAAGAGGACTTCCTTCCTATATGCTAACCTCAAATTTTTTAACACTAACCCTGAAGCAAGAGAATTAAAATGAAGATAAATAGTTATGTGGGCTTTCACTGGGCATGGTCGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGTGGGATCACCTGAGGTCAGCATGGTGAAACCCTATCTCTACTAAAAATAAAATATTAGCCGGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACCCGGGAGACTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAAGCTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAACAAACAAAAATAGTTATGTGGGTTTTCGTTGACATATTTTTGGGAAACCTTGATGTATGTATTCAGAGGACTTCTAAGCCATAAGAGACCCAAGTGCCTTGAGGAGCCACATACTTTTCCCTGCGCTGCTTATTTCTGAGGTGGTTAATAATATCGACTCTGGGAAGATTGATTTTTCAAGACTCCTTCCCATTTCTTAATTTATTTCTGCTTACTTAGTTTGGTTTTTTATTTTTAGCAGACATTTTAGCAAAGCAGAAATATATTTTTCCTGTGGATTTTAGACTTGCATTCTTATATTTACGAACTTACAAAAACTTATCCGAGAATTAATTTTTTTTTCAAATGCTTAGGCAAATTAAGTATGATCAAGTCTTCTTTATTGTGTGCTGTAAAAATGGAGTGGCGGCAAGAATGTAATACAGGGCATCTGACTGCTGAGGAAAAAAAAAAATAATACAGGCTGGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGACACAGAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCACGGTGGCATATGCCTGTAGTCCCAGCTACAGGAGGCTGTGGAAGAATTGCTTGCGCCCGGGAGGAGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGCACTCCAGCCTGGGGGACATAGCAAGACTCCATCTCAAAAAAATAGATGGAATGACAGCACCACAGGGCTACAATCAGCGAAACATAGACTGTGGGAAAATATATAAGATAAACAACCCAATTTCTTCAAAAGAAATTTTGTAATGAATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGGAGGCTAAGGCAGGAGAACAGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGTAACTGCACTCCGGCCTGGGTGACAGAGTGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAATGGTTTGGACACAGATCAGAGAAATTTGAATATTGACTATATATTTTATGATATTAAAGAATCATTGTTAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAGTTCAAGACCTGCCTGGCCAAGATGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAATTCCAGCTACTCGGGAAGTTGAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTAGCGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTAAGACTCCATCTAAAAGAAAAAAAAAAAAAAGAAATCATTGTTAATGCATTTACGTG
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Task1_train_24430
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The gene ATP6V0A1 (ATPase H+ transporting V0 subunit a1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Neurodevelopmental disorder with epilepsy and brain atrophy
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GGAAAATATATAAGATAAACAACCCAATTTCTTCAAAAGAAATTTTGTAATGAATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGGAGGCTAAGGCAGGAGAACAGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGTAACTGCACTCCGGCCTGGGTGACAGAGTGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAATGGTTTGGACACAGATCAGAGAAATTTGAATATTGACTATATATTTTATGATATTAAAGAATCATTGTTAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAGTTCAAGACCTGCCTGGCCAAGATGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAATTCCAGCTACTCGGGAAGTTGAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTAGCGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTAAGACTCCATCTAAAAGAAAAAAAAAAAAAAGAAATCATTGTTAATGCATTTACGTGTGATGACAATATTGTGGTCATGTTTTAAAAATAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAAGAGATCGAGACCTTCCTGGCTAACATGGTGAAAACCCCACCTTGCAATAGGCCGAGATTTCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTTCATCTCAAAAAAAAAAGAAAAAAAAAAAAAGCCTTACTGGCCGGGCGCAGTGACTCAAGCCTGTAATCCAAGCAGTTTGGGAGGCCGAGGCAAGCCTCAGGCCAGACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATCGTGGCCTGTGCCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAAGGCAGGAGGTGGAAGTTGCAGTCAGCGAGATCATGAACACTGCACTCCATCCTGGGCAAAAAGAGCGAAATTCCATCTCAATAAATAAATAAATAAATAAATAAGTCTTTTCCTTTTAGACATCCACACTGAAATATTTACAGGTAAAATGACATGATATCTGGACTTTTTAGTAATGTGGAGATGAGTGAGTGGCAGTAATCTTTTTTCATGACTATAAGGTGATGTTAATTTTTGAAGCATTCTCCTCAAAAGCAAGATTAAAAAAAAAAATTTTGTCGAAGCAGAGTGATAGGTGCCTGGGAGTTTGTTGTACCATCCTGTCTGCTTAAGTATCTGTTTAGAATTTTCCATAATAAATAATATTGATTAATAAATAAAAATTGTCGACCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCATGAATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCGTCTCTAAATAAATAAATAAATAAAAATTGTTTTTTAAACAGAGGAATATTTTTCCCTTTGAGAATTCTTTATAATACCTATTTGTTTTCTCGGGTTATGACAGATTTGGAACATTGCTACCAATAAACTGACGTTCTTGAACTCCTTTAAGATGAAGATGTCTGTTATCCTTGGTATCATCCATATGCTGTTTGGAGTCAGCCTGAGTCTGTTCAACCATATGTGAGTTGTTCCATTTCTGTCATAAGAATGTGCATAGTTTAGAGAATGCTTTTGTGTAAAGAAATCATGACATCTTTGGGGAGGGATTAATAACTCAGAACCTCATTCTACATTATAGAAGTGCTTTTCTAAAAATTTAATGGTGTGGCCAGGCGCGGTGGATCATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCCGGTGGATCACCTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGTGTAGTGGCACGCGCCTATATTCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCGCAGTGAGACAAGATGGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGACTCTGCCTCAAAAAAAATAAATAAATAAATAAATTTCATGGTCTGGCCGGGTGCAGTGGCTTACACTTGTAATCCAGCACTTTGGGAAGATGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCCACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGTGCACCTGTAATCCCAGCTACTCTGGTGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTAAACCAAGATAACACCACTGCACTCCAGTCGGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAATGTTGATGGTCTTAAATTAGACTTAATATTAGTCCTTTAACAATTTACTGTTCCAGTAAAGATCCTTGAAAAAAACTTGAGCAATTTTCATCAAAATAAGTGAGGTCTCTTTTTTTCCTTGATGTGCAACTCACATAAAATTATTAGCTGTGGACTGGGTGTGGGGGCTCACACCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGCCCAAGAGTTCAAGACAAGCCTGGGTAACACGGCAAAAGACCCCATCTCTACAAAAAAAAAAAAAAAAAAAAGTTATGAACTGTGGTCTCAAAATGTACTAGATTTTTCCATTCTCTTTCTCATGGAGAGAATGGTGGGGATGGTATTGGAGCCGTTCAAGGTTCAAAAGTTTAAGGCCTGGCACAATGGCTCACATCTGTCATCCTGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGATGTCAGGAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACAAAAAAATGTAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGTAAGAGGATTGCCTAAGCCCAGGGAGGTTAAGACTGCGGTGAGCCAATATTGCACCACTGTACTCCAGGCTGGGTAGCAGAGTGAGACCCTGTCTCAAAAAAGAAAAAGCAACAGCAAAACAAAACCAAGGTTCAAAAGTTTGACCGTGATAGTTAATCCTGCATTGTCTCTGTTGTCTCCAGCTTCTGGTTGCTGCTGCTTAAAGTGATAAAGACAGAATTGAGGGGGTATTAAGTAGAAAAATCTAGTGAATACTCCATTCAGTGTAGGAGTGGCCCTAGGCCCATTTACCCTTAACATTTTTTTCTCTCTCCTTTTTAGCTATTTCAAGAAGCCCCTGAATATCTACTTTGGATTTATTCCTGAAATAATCTTCATGACCTCTTTGTTTGGCTATTTGGTTATCCTTATTTTTTACAAGTGGACGGCCTATGATGCTCATACCTCTGAGAATGCACCAAGCCTTCTGATCCATTTCATAAACATGTTCCTCTTTTCCTACCCAGAGTCTGGTTATTCAATGTTGTATTCTGGACAGGTACGTCAGCCCAGAGGCAGACTGTCTGAGATGATTATACTTGATCAGGAAGCCAGATGTTTCTCT
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GGAAAATATATAAGATAAACAACCCAATTTCTTCAAAAGAAATTTTGTAATGAATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGGAGGCTAAGGCAGGAGAACAGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGTAACTGCACTCCGGCCTGGGTGACAGAGTGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAATGGTTTGGACACAGATCAGAGAAATTTGAATATTGACTATATATTTTATGATATTAAAGAATCATTGTTAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAGTTCAAGACCTGCCTGGCCAAGATGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAATTCCAGCTACTCGGGAAGTTGAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTAGCGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTAAGACTCCATCTAAAAGAAAAAAAAAAAAAAGAAATCATTGTTAATGCATTTACGTGTGATGACAATATTGTGGTCATGTTTTAAAAATAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAAGAGATCGAGACCTTCCTGGCTAACATGGTGAAAACCCCACCTTGCAATAGGCCGAGATTTCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTTCATCTCAAAAAAAAAAGAAAAAAAAAAAAAGCCTTACTGGCCGGGCGCAGTGACTCAAGCCTGTAATCCAAGCAGTTTGGGAGGCCGAGGCAAGCCTCAGGCCAGACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATCGTGGCCTGTGCCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAAGGCAGGAGGTGGAAGTTGCAGTCAGCGAGATCATGAACACTGCACTCCATCCTGGGCAAAAAGAGCGAAATTCCATCTCAATAAATAAATAAATAAATAAATAAGTCTTTTCCTTTTAGACATCCACACTGAAATATTTACAGGTAAAATGACATGATATCTGGACTTTTTAGTAATGTGGAGATGAGTGAGTGGCAGTAATCTTTTTTCATGACTATAAGGTGATGTTAATTTTTGAAGCATTCTCCTCAAAAGCAAGATTAAAAAAAAAAATTTTGTCGAAGCAGAGTGATAGGTGCCTGGGAGTTTGTTGTACCATCCTGTCTGCTTAAGTATCTGTTTAGAATTTTCCATAATAAATAATATTGATTAATAAATAAAAATTGTCGACCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCATGAATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCGTCTCTAAATAAATAAATAAATAAAAATTGTTTTTTAAACAGAGGAATATTTTTCCCTTTGAGAATTCTTTATAATACCTATTTGTTTTCTCGGGTTATGACAGATTTGGAACATTGCTACCGATAAACTGACGTTCTTGAACTCCTTTAAGATGAAGATGTCTGTTATCCTTGGTATCATCCATATGCTGTTTGGAGTCAGCCTGAGTCTGTTCAACCATATGTGAGTTGTTCCATTTCTGTCATAAGAATGTGCATAGTTTAGAGAATGCTTTTGTGTAAAGAAATCATGACATCTTTGGGGAGGGATTAATAACTCAGAACCTCATTCTACATTATAGAAGTGCTTTTCTAAAAATTTAATGGTGTGGCCAGGCGCGGTGGATCATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCCGGTGGATCACCTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGTGTAGTGGCACGCGCCTATATTCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCGCAGTGAGACAAGATGGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGACTCTGCCTCAAAAAAAATAAATAAATAAATAAATTTCATGGTCTGGCCGGGTGCAGTGGCTTACACTTGTAATCCAGCACTTTGGGAAGATGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCCACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGTGCACCTGTAATCCCAGCTACTCTGGTGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTAAACCAAGATAACACCACTGCACTCCAGTCGGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAATGTTGATGGTCTTAAATTAGACTTAATATTAGTCCTTTAACAATTTACTGTTCCAGTAAAGATCCTTGAAAAAAACTTGAGCAATTTTCATCAAAATAAGTGAGGTCTCTTTTTTTCCTTGATGTGCAACTCACATAAAATTATTAGCTGTGGACTGGGTGTGGGGGCTCACACCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGCCCAAGAGTTCAAGACAAGCCTGGGTAACACGGCAAAAGACCCCATCTCTACAAAAAAAAAAAAAAAAAAAAGTTATGAACTGTGGTCTCAAAATGTACTAGATTTTTCCATTCTCTTTCTCATGGAGAGAATGGTGGGGATGGTATTGGAGCCGTTCAAGGTTCAAAAGTTTAAGGCCTGGCACAATGGCTCACATCTGTCATCCTGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGATGTCAGGAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACAAAAAAATGTAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGTAAGAGGATTGCCTAAGCCCAGGGAGGTTAAGACTGCGGTGAGCCAATATTGCACCACTGTACTCCAGGCTGGGTAGCAGAGTGAGACCCTGTCTCAAAAAAGAAAAAGCAACAGCAAAACAAAACCAAGGTTCAAAAGTTTGACCGTGATAGTTAATCCTGCATTGTCTCTGTTGTCTCCAGCTTCTGGTTGCTGCTGCTTAAAGTGATAAAGACAGAATTGAGGGGGTATTAAGTAGAAAAATCTAGTGAATACTCCATTCAGTGTAGGAGTGGCCCTAGGCCCATTTACCCTTAACATTTTTTTCTCTCTCCTTTTTAGCTATTTCAAGAAGCCCCTGAATATCTACTTTGGATTTATTCCTGAAATAATCTTCATGACCTCTTTGTTTGGCTATTTGGTTATCCTTATTTTTTACAAGTGGACGGCCTATGATGCTCATACCTCTGAGAATGCACCAAGCCTTCTGATCCATTTCATAAACATGTTCCTCTTTTCCTACCCAGAGTCTGGTTATTCAATGTTGTATTCTGGACAGGTACGTCAGCCCAGAGGCAGACTGTCTGAGATGATTATACTTGATCAGGAAGCCAGATGTTTCTCT
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Task1_train_24431
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A variant has been detected on Chromosome 17 in ATP6V0A1 (ATPase H+ transporting V0 subunit a1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Developmental and epileptic encephalopathy 104
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AATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGGAGGCTAAGGCAGGAGAACAGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGTAACTGCACTCCGGCCTGGGTGACAGAGTGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAATGGTTTGGACACAGATCAGAGAAATTTGAATATTGACTATATATTTTATGATATTAAAGAATCATTGTTAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAGTTCAAGACCTGCCTGGCCAAGATGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAATTCCAGCTACTCGGGAAGTTGAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTAGCGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTAAGACTCCATCTAAAAGAAAAAAAAAAAAAAGAAATCATTGTTAATGCATTTACGTGTGATGACAATATTGTGGTCATGTTTTAAAAATAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAAGAGATCGAGACCTTCCTGGCTAACATGGTGAAAACCCCACCTTGCAATAGGCCGAGATTTCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTTCATCTCAAAAAAAAAAGAAAAAAAAAAAAAGCCTTACTGGCCGGGCGCAGTGACTCAAGCCTGTAATCCAAGCAGTTTGGGAGGCCGAGGCAAGCCTCAGGCCAGACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATCGTGGCCTGTGCCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAAGGCAGGAGGTGGAAGTTGCAGTCAGCGAGATCATGAACACTGCACTCCATCCTGGGCAAAAAGAGCGAAATTCCATCTCAATAAATAAATAAATAAATAAATAAGTCTTTTCCTTTTAGACATCCACACTGAAATATTTACAGGTAAAATGACATGATATCTGGACTTTTTAGTAATGTGGAGATGAGTGAGTGGCAGTAATCTTTTTTCATGACTATAAGGTGATGTTAATTTTTGAAGCATTCTCCTCAAAAGCAAGATTAAAAAAAAAAATTTTGTCGAAGCAGAGTGATAGGTGCCTGGGAGTTTGTTGTACCATCCTGTCTGCTTAAGTATCTGTTTAGAATTTTCCATAATAAATAATATTGATTAATAAATAAAAATTGTCGACCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCATGAATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCGTCTCTAAATAAATAAATAAATAAAAATTGTTTTTTAAACAGAGGAATATTTTTCCCTTTGAGAATTCTTTATAATACCTATTTGTTTTCTCGGGTTATGACAGATTTGGAACATTGCTACCAATAAACTGACGTTCTTGAACTCCTTTAAGATGAAGATGTCTGTTATCCTTGGTATCATCCATATGCTGTTTGGAGTCAGCCTGAGTCTGTTCAACCATATGTGAGTTGTTCCATTTCTGTCATAAGAATGTGCATAGTTTAGAGAATGCTTTTGTGTAAAGAAATCATGACATCTTTGGGGAGGGATTAATAACTCAGAACCTCATTCTACATTATAGAAGTGCTTTTCTAAAAATTTAATGGTGTGGCCAGGCGCGGTGGATCATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCCGGTGGATCACCTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGTGTAGTGGCACGCGCCTATATTCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCGCAGTGAGACAAGATGGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGACTCTGCCTCAAAAAAAATAAATAAATAAATAAATTTCATGGTCTGGCCGGGTGCAGTGGCTTACACTTGTAATCCAGCACTTTGGGAAGATGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCCACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGTGCACCTGTAATCCCAGCTACTCTGGTGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTAAACCAAGATAACACCACTGCACTCCAGTCGGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAATGTTGATGGTCTTAAATTAGACTTAATATTAGTCCTTTAACAATTTACTGTTCCAGTAAAGATCCTTGAAAAAAACTTGAGCAATTTTCATCAAAATAAGTGAGGTCTCTTTTTTTCCTTGATGTGCAACTCACATAAAATTATTAGCTGTGGACTGGGTGTGGGGGCTCACACCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGCCCAAGAGTTCAAGACAAGCCTGGGTAACACGGCAAAAGACCCCATCTCTACAAAAAAAAAAAAAAAAAAAAGTTATGAACTGTGGTCTCAAAATGTACTAGATTTTTCCATTCTCTTTCTCATGGAGAGAATGGTGGGGATGGTATTGGAGCCGTTCAAGGTTCAAAAGTTTAAGGCCTGGCACAATGGCTCACATCTGTCATCCTGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGATGTCAGGAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACAAAAAAATGTAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGTAAGAGGATTGCCTAAGCCCAGGGAGGTTAAGACTGCGGTGAGCCAATATTGCACCACTGTACTCCAGGCTGGGTAGCAGAGTGAGACCCTGTCTCAAAAAAGAAAAAGCAACAGCAAAACAAAACCAAGGTTCAAAAGTTTGACCGTGATAGTTAATCCTGCATTGTCTCTGTTGTCTCCAGCTTCTGGTTGCTGCTGCTTAAAGTGATAAAGACAGAATTGAGGGGGTATTAAGTAGAAAAATCTAGTGAATACTCCATTCAGTGTAGGAGTGGCCCTAGGCCCATTTACCCTTAACATTTTTTTCTCTCTCCTTTTTAGCTATTTCAAGAAGCCCCTGAATATCTACTTTGGATTTATTCCTGAAATAATCTTCATGACCTCTTTGTTTGGCTATTTGGTTATCCTTATTTTTTACAAGTGGACGGCCTATGATGCTCATACCTCTGAGAATGCACCAAGCCTTCTGATCCATTTCATAAACATGTTCCTCTTTTCCTACCCAGAGTCTGGTTATTCAATGTTGTATTCTGGACAGGTACGTCAGCCCAGAGGCAGACTGTCTGAGATGATTATACTTGATCAGGAAGCCAGATGTTTCTCTGACCCTAAAAAATTTATAACTGCCCTTCTATGGGACAATTCTAGGGCTTTGC
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AATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGGAGGCTAAGGCAGGAGAACAGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGTAACTGCACTCCGGCCTGGGTGACAGAGTGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAATGGTTTGGACACAGATCAGAGAAATTTGAATATTGACTATATATTTTATGATATTAAAGAATCATTGTTAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAGTTCAAGACCTGCCTGGCCAAGATGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAATTCCAGCTACTCGGGAAGTTGAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTAGCGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTAAGACTCCATCTAAAAGAAAAAAAAAAAAAAGAAATCATTGTTAATGCATTTACGTGTGATGACAATATTGTGGTCATGTTTTAAAAATAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAAGAGATCGAGACCTTCCTGGCTAACATGGTGAAAACCCCACCTTGCAATAGGCCGAGATTTCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTTCATCTCAAAAAAAAAAGAAAAAAAAAAAAAGCCTTACTGGCCGGGCGCAGTGACTCAAGCCTGTAATCCAAGCAGTTTGGGAGGCCGAGGCAAGCCTCAGGCCAGACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATCGTGGCCTGTGCCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAAGGCAGGAGGTGGAAGTTGCAGTCAGCGAGATCATGAACACTGCACTCCATCCTGGGCAAAAAGAGCGAAATTCCATCTCAATAAATAAATAAATAAATAAATAAGTCTTTTCCTTTTAGACATCCACACTGAAATATTTACAGGTAAAATGACATGATATCTGGACTTTTTAGTAATGTGGAGATGAGTGAGTGGCAGTAATCTTTTTTCATGACTATAAGGTGATGTTAATTTTTGAAGCATTCTCCTCAAAAGCAAGATTAAAAAAAAAAATTTTGTCGAAGCAGAGTGATAGGTGCCTGGGAGTTTGTTGTACCATCCTGTCTGCTTAAGTATCTGTTTAGAATTTTCCATAATAAATAATATTGATTAATAAATAAAAATTGTCGACCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCATGAATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCGTCTCTAAATAAATAAATAAATAAAAATTGTTTTTTAAACAGAGGAATATTTTTCCCTTTGAGAATTCTTTATAATACCTATTTGTTTTCTCGGGTTATGACAGATTTGGAACATTGCTACCAATAAACTGACGTTCTTGAACTCCTTTAAGATGAAGATGTCTGTTATCCTTGATATCATCCATATGCTGTTTGGAGTCAGCCTGAGTCTGTTCAACCATATGTGAGTTGTTCCATTTCTGTCATAAGAATGTGCATAGTTTAGAGAATGCTTTTGTGTAAAGAAATCATGACATCTTTGGGGAGGGATTAATAACTCAGAACCTCATTCTACATTATAGAAGTGCTTTTCTAAAAATTTAATGGTGTGGCCAGGCGCGGTGGATCATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCCGGTGGATCACCTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGTGTAGTGGCACGCGCCTATATTCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCGCAGTGAGACAAGATGGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGACTCTGCCTCAAAAAAAATAAATAAATAAATAAATTTCATGGTCTGGCCGGGTGCAGTGGCTTACACTTGTAATCCAGCACTTTGGGAAGATGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCCACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGTGCACCTGTAATCCCAGCTACTCTGGTGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTAAACCAAGATAACACCACTGCACTCCAGTCGGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAATGTTGATGGTCTTAAATTAGACTTAATATTAGTCCTTTAACAATTTACTGTTCCAGTAAAGATCCTTGAAAAAAACTTGAGCAATTTTCATCAAAATAAGTGAGGTCTCTTTTTTTCCTTGATGTGCAACTCACATAAAATTATTAGCTGTGGACTGGGTGTGGGGGCTCACACCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGCCCAAGAGTTCAAGACAAGCCTGGGTAACACGGCAAAAGACCCCATCTCTACAAAAAAAAAAAAAAAAAAAAGTTATGAACTGTGGTCTCAAAATGTACTAGATTTTTCCATTCTCTTTCTCATGGAGAGAATGGTGGGGATGGTATTGGAGCCGTTCAAGGTTCAAAAGTTTAAGGCCTGGCACAATGGCTCACATCTGTCATCCTGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGATGTCAGGAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACAAAAAAATGTAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGTAAGAGGATTGCCTAAGCCCAGGGAGGTTAAGACTGCGGTGAGCCAATATTGCACCACTGTACTCCAGGCTGGGTAGCAGAGTGAGACCCTGTCTCAAAAAAGAAAAAGCAACAGCAAAACAAAACCAAGGTTCAAAAGTTTGACCGTGATAGTTAATCCTGCATTGTCTCTGTTGTCTCCAGCTTCTGGTTGCTGCTGCTTAAAGTGATAAAGACAGAATTGAGGGGGTATTAAGTAGAAAAATCTAGTGAATACTCCATTCAGTGTAGGAGTGGCCCTAGGCCCATTTACCCTTAACATTTTTTTCTCTCTCCTTTTTAGCTATTTCAAGAAGCCCCTGAATATCTACTTTGGATTTATTCCTGAAATAATCTTCATGACCTCTTTGTTTGGCTATTTGGTTATCCTTATTTTTTACAAGTGGACGGCCTATGATGCTCATACCTCTGAGAATGCACCAAGCCTTCTGATCCATTTCATAAACATGTTCCTCTTTTCCTACCCAGAGTCTGGTTATTCAATGTTGTATTCTGGACAGGTACGTCAGCCCAGAGGCAGACTGTCTGAGATGATTATACTTGATCAGGAAGCCAGATGTTTCTCTGACCCTAAAAAATTTATAACTGCCCTTCTATGGGACAATTCTAGGGCTTTGC
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Task1_train_24432
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This variant affects gene ATP6V0A1 (ATPase H+ transporting V0 subunit a1) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Developmental and epileptic encephalopathy 104
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CCTGGGAGCCATGGACTTCTTCCTCTCAATGCGGGCCCTGGGGCGGCAGCCAGCAGTGGTAGGAAAGAGCTCTTAACCACGGTGTTGGGATTTAGGGAACTCAGGGAACTAGGATTACCCTAGTTTTCAGGGTAAGTAAGGAAGCTTGAAGAGCCTGTTCCGGAAGAAAAGCCCAGAAATAGGCTAGGTGTCGACAGAGGTGAGGGAGAAGCAGACGTTCGCCCAGAGATGGCATGGTGGAGCCAGCCCCCTCCACGCTGGCTGCACCCCTGTGGCCTGGGCTGTTGTGGCTTTACCAGCCAAGCCACTTTCTCCCATCCCCATGTTCTCAGTGATTTCCCAAGGCATTTCTGGTGTCCTTTGGGAGTGGAATCACGTGGGTTTTGAAAGGAACTGCGGTGAAAAATAGACCCTGACCTGAGGGCAGGGGCCGATGGGGAGGCCACTGAGCCCTCAGGAGTGTCTGAAAGCTCAGAAGATTCTGGTCTGGGCTCTGCGGGGGGAAGCCCCATAAGGGAGCGCCTCCTGGTCTTTGGTCAGCTTGACAGAGAGGCCCAGGGAAAGTACCTGGGGCTTCCAGAATATACCAAATTCAGAAGCCCACATTCACCCCTGACTGTGCTTGGAGCAAACCTGAAAGTTCACTCCCAAGAGCTTGTTCCAGCCCATTCCTTTATTCTGGAAATAATTCTTGGTATTGAAAGGAAAACTGGGACAAAGGGAGCTTGAGGAAAACGAAAACAAACAAGAAACTGGAGATATGCTATTTAGTCTTAACCCAAACAGATATGCTGTTTGGCCTTAACCCATGTGGAAATTTGTAAACTTTGTCAGGATTTCCCTGTGCATGGTGGTGAAATCATGTAGGGAAAAAAAAATTCACCGTGTAATCTCTTTAGAAGTCACAAAAGAAAAAGAAGGTTATCTTGCTCCCAAAAGGCTGTAAAAAGAATAAGTAAAGTGGCCATAGAGGCCTAGTCTTCTCAGGACAGTGTCCGGGTTGAGAGTCTGTCTCCTGAAGCGCACTCTGGGGAAAATCCCTTCCTGCCCTCCTGCAGGTCCTTAGGGTCCCAGACCCAGACAGTCACTTTCTCAACAGAGTGCCGTCAACTCAGCACACACTCCTCTCTTGAGCACAGAGCCCCAGAGGGAGAAGAACAAATGTGTTGAAAAGAATCTTATTAAGATGTAGTTAATTAAAATGTAATGTATTGAGGGGAATGGAGGTGTCCCAGGTGAGGGCTAAGTCAGGCAGGATTTTTGGGGAAGGCATTGCCGAAATCACCACCTGAGCTCAACACTGGGTGCTTCTGGCCCCTCCAGAGTTGAGGTGCCATCCATGGGAAGTGCAGTCCCCTGCCCTGGCCCAGGTTCAAAGCGCCAAGTAGCCACAACTCAGAATGCCTGCACGTTCCCCTCCTAGCCTTATATCTTCTCTCTGGTTTCCTCCCACGACAGTTTGACTTTGGGGACACCATGGTCCACCAGGCCATCCACACCATCGAGTACTGCCTGGGCTGCATCTCCAACACTGCCTCCTACTTGCGGCTCTGGGCCCTCAGCCTCGCTCATGCGCGTGAGTACCTCTCTCCGGGCTCCGGAACTCTAGTTTCCCCCTCTGTGGGCGCACTGTCAGTTGGGGGGCTTAAGTCAAATGGAAATTACATGAAGGTTCTGGAATTATTCAGGTTCCTGAACCCAAGGAGAATGAGTACAGACAGGAGGCTCAGCACTTGTGCCAGGTTAGCTCTGCATGGTGGTCCCACTAAGGCAGTGGGAAGCCAGGATCCAGGGAACCCTAGAGCAGGGGGATGGCAGAGCAAAATTCATGGCCTACAGCTGCCTCTTGCCAAACTGCACTGGATTTTGTGTCTCCCATTCCCCAGAGCTGTCTGAGGTGCTTTGGACCATGGTGATCCACATCGGCCTGAGCGTGAAGAGCTTGGCGGGAGGTTTGGTGCTGTTCTTCTTCTTCACTGCCTTTGCCACCCTGACCGTGGCCATCCTCCTGATCATGGAGGGCCTCTCGGCCTTTCTCCACGCACTGCGCTTACACTGGTGAGGGGCAGTGGGGCAGGGCGGGCATGGGGGTGGATGTGTCCTTAGCTGCGGTGAGAGGGCAGCTTTTCTCCCACACACAGCCCTGCAGCTCTGTGCAGGAAAGATGAGCTGGCCCTGCACTAGCTTCACCTCAGGACACCCCAGCACCGGCATTGCCACAGAGTTTCGGAAAATGGTCACAGAAAAGCACAGCTCAGCCTTCCCTAGGCTCTAGGGAGATGTCCCTGGTGAGTGGTGTCAGGTCCCGCTCCCTGCCTTTAGCTGTCCCCAGTGCTCCTGATTTTGGCTTAAAGGGGCTGCTGGGGTCTTAGGGTTTCTGGTTTTCTCTCTGATGTGTAACTCTTCTGTCTTCAGAACAGTGGAAGCAGCTCTGGAATGTATGTTAAGTGCAGGAAAGGCTAGAACACGCTGCACCCCAGCTTTATCCTCTTTGTTCTGTCATTGTGCCAGGGGTCTTTGAGTTGGACCCCTGGCAGCTCCATTGTGGACCGGAGGGATTCCTGGCTCTATAGGGTGGAGGTCGGTACACTCACGCAGCTTCTTCACATGGGCAGGTTTGGGGTGGTTCTGTTTGTTTTCTTTAATGAAGCTTGTGACTCTTAATGGCTGTGTGTGGAGAGAGCATGAGTTCAGCCTCTGGGACTGGGAGAGCGGGGGTGTGGTCTGGGCTGTGACCACCTCAAACCAGCGTTGCCAGATGTAGCACATAAAAGTACAGTTTGGCTGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCAGGTGAATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAATATACAAAAATTAGCCAGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAAAGAATCTCTTAAACCCAGGAGGCAGGGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATAGGGGAGGGGTTGGGGGCCAGGCACGGTGGTTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACGCTGTCTCTACTAAAAATACAAAAACATTAGCCGGGCATGGTGGTGCATGCCTGGAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCATTGAGCCAAGATCGCGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCGGTCTCAAAAAATAAAAATACAGGGTGTATTTCACATAAACAACAAATAATTTTTTTAGTATGAGTATTTCCCAAATGTGCATGGGATATGCTTATACTAAAAACTGGGGCAGTCTGTATTTTCTGTGGCTGTTCCACCTCAGACTCCACTTCTTTGGGTCTCTATTTTCTCCTTTATGTTGTGATTCTCTTTTTGGGGGTCTCAAAACCCCAATGTCTCTGGAAGTTCTGGCCCCTCTCCCCAGAGGAGCACTCACACACTTCTCCTGTTTTACAAGCATAGGGGTCTGACTCACTGGTGTGCCTTAGAGGCCCCTGGATGGGATGCTCTGTGGTGTTCATGATCTCAAGGCCAGAAGAGGACTATGAATGTCTCTCTTCGTTCTCAAAACCTGAAGAAAATCCAGCATCTGAACCTGAGAAACTCATTCCCCACTCCCCTTTATCTTTGATTATTCTCATGGCTGGGTGACCCCTGAGCCTCCTCAAAGATTCAGCTGTGGGTTTTTCTGAATGATGGGCGGAGAGTGAGGCATGGAAGGGCAAGACGTGGCTAGGGTGCACTCTTCTTCAAAAGCCCTGCTGCGTCAGTAGACCTGGCTTCCTCTGGCCTGGCTCTCTCCCTCCTGGCCTCCCTCCTCCCCACCCAGCTCATCTGGCTGGCCTCCCTGTTCTAAGCTTATCAGCCGACCCCCGCAAGCACACTTCCTCAGCCC
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CCTGGGAGCCATGGACTTCTTCCTCTCAATGCGGGCCCTGGGGCGGCAGCCAGCAGTGGTAGGAAAGAGCTCTTAACCACGGTGTTGGGATTTAGGGAACTCAGGGAACTAGGATTACCCTAGTTTTCAGGGTAAGTAAGGAAGCTTGAAGAGCCTGTTCCGGAAGAAAAGCCCAGAAATAGGCTAGGTGTCGACAGAGGTGAGGGAGAAGCAGACGTTCGCCCAGAGATGGCATGGTGGAGCCAGCCCCCTCCACGCTGGCTGCACCCCTGTGGCCTGGGCTGTTGTGGCTTTACCAGCCAAGCCACTTTCTCCCATCCCCATGTTCTCAGTGATTTCCCAAGGCATTTCTGGTGTCCTTTGGGAGTGGAATCACGTGGGTTTTGAAAGGAACTGCGGTGAAAAATAGACCCTGACCTGAGGGCAGGGGCCGATGGGGAGGCCACTGAGCCCTCAGGAGTGTCTGAAAGCTCAGAAGATTCTGGTCTGGGCTCTGCGGGGGGAAGCCCCATAAGGGAGCGCCTCCTGGTCTTTGGTCAGCTTGACAGAGAGGCCCAGGGAAAGTACCTGGGGCTTCCAGAATATACCAAATTCAGAAGCCCACATTCACCCCTGACTGTGCTTGGAGCAAACCTGAAAGTTCACTCCCAAGAGCTTGTTCCAGCCCATTCCTTTATTCTGGAAATAATTCTTGGTATTGAAAGGAAAACTGGGACAAAGGGAGCTTGAGGAAAACGAAAACAAACAAGAAACTGGAGATATGCTATTTAGTCTTAACCCAAACAGATATGCTGTTTGGCCTTAACCCATGTGGAAATTTGTAAACTTTGTCAGGATTTCCCTGTGCATGGTGGTGAAATCATGTAGGGAAAAAAAAATTCACCGTGTAATCTCTTTAGAAGTCACAAAAGAAAAAGAAGGTTATCTTGCTCCCAAAAGGCTGTAAAAAGAATAAGTAAAGTGGCCATAGAGGCCTAGTCTTCTCAGGACAGTGTCCGGGTTGAGAGTCTGTCTCCTGAAGCGCACTCTGGGGAAAATCCCTTCCTGCCCTCCTGCAGGTCCTTAGGGTCCCAGACCCAGACAGTCACTTTCTCAACAGAGTGCCGTCAACTCAGCACACACTCCTCTCTTGAGCACAGAGCCCCAGAGGGAGAAGAACAAATGTGTTGAAAAGAATCTTATTAAGATGTAGTTAATTAAAATGTAATGTATTGAGGGGAATGGAGGTGTCCCAGGTGAGGGCTAAGTCAGGCAGGATTTTTGGGGAAGGCATTGCCGAAATCACCACCTGAGCTCAACACTGGGTGCTTCTGGCCCCTCCAGAGTTGAGGTGCCATCCATGGGAAGTGCAGTCCCCTGCCCTGGCCCAGGTTCAAAGCGCCAAGTAGCCACAACTCAGAATGCCTGCACGTTCCCCTCCTAGCCTTATATCTTCTCTCTGGTTTCCTCCCACGACAGTTTGACTTTGGGGACACCATGGTCCACCAGGCCATCCACACCATCGAGTACTGCCTGGGCTGCATCTCCAACACTGCCTCCTACTTGCGGCTCTGGGCCCTCAGCCTCGCTCATGCGCGTGAGTACCTCTCTCCGGGCTCCGGAACTCTAGTTTCCCCCTCTGTGGGCGCACTGTCAGTTGGGGGGCTTAAGTCAAATGGAAATTACATGAAGGTTCTGGAATTATTCAGGTTCCTGAACCCAAGGAGAATGAGTACAGACAGGAGGCTCAGCACTTGTGCCAGGTTAGCTCTGCATGGTGGTCCCACTAAGGCAGTGGGAAGCCAGGATCCAGGGAACCCTAGAGCAGGGGGATGGCAGAGCAAAATTCATGGCCTACAGCTGCCTCTTGCCAAACTGCACTGGATTTTGTGTCTCCCATTCCCCAGAGCTGTCTGAGGTGCTTTGGACCATGGTGATCCACATCGGCCTGAGCGTGAAGAGCTTGGCGGGAGGTTTGGTGCTGTTCTTCTTCTTCACTGCCTTTGCCACCCTGACCGTGGCCATCCTCCTGATCATGGAGGGCCTCTCGGCCTTTCTCCACGCACTGCACTTACACTGGTGAGGGGCAGTGGGGCAGGGCGGGCATGGGGGTGGATGTGTCCTTAGCTGCGGTGAGAGGGCAGCTTTTCTCCCACACACAGCCCTGCAGCTCTGTGCAGGAAAGATGAGCTGGCCCTGCACTAGCTTCACCTCAGGACACCCCAGCACCGGCATTGCCACAGAGTTTCGGAAAATGGTCACAGAAAAGCACAGCTCAGCCTTCCCTAGGCTCTAGGGAGATGTCCCTGGTGAGTGGTGTCAGGTCCCGCTCCCTGCCTTTAGCTGTCCCCAGTGCTCCTGATTTTGGCTTAAAGGGGCTGCTGGGGTCTTAGGGTTTCTGGTTTTCTCTCTGATGTGTAACTCTTCTGTCTTCAGAACAGTGGAAGCAGCTCTGGAATGTATGTTAAGTGCAGGAAAGGCTAGAACACGCTGCACCCCAGCTTTATCCTCTTTGTTCTGTCATTGTGCCAGGGGTCTTTGAGTTGGACCCCTGGCAGCTCCATTGTGGACCGGAGGGATTCCTGGCTCTATAGGGTGGAGGTCGGTACACTCACGCAGCTTCTTCACATGGGCAGGTTTGGGGTGGTTCTGTTTGTTTTCTTTAATGAAGCTTGTGACTCTTAATGGCTGTGTGTGGAGAGAGCATGAGTTCAGCCTCTGGGACTGGGAGAGCGGGGGTGTGGTCTGGGCTGTGACCACCTCAAACCAGCGTTGCCAGATGTAGCACATAAAAGTACAGTTTGGCTGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCAGGTGAATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAATATACAAAAATTAGCCAGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAAAGAATCTCTTAAACCCAGGAGGCAGGGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATAGGGGAGGGGTTGGGGGCCAGGCACGGTGGTTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACGCTGTCTCTACTAAAAATACAAAAACATTAGCCGGGCATGGTGGTGCATGCCTGGAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCATTGAGCCAAGATCGCGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCGGTCTCAAAAAATAAAAATACAGGGTGTATTTCACATAAACAACAAATAATTTTTTTAGTATGAGTATTTCCCAAATGTGCATGGGATATGCTTATACTAAAAACTGGGGCAGTCTGTATTTTCTGTGGCTGTTCCACCTCAGACTCCACTTCTTTGGGTCTCTATTTTCTCCTTTATGTTGTGATTCTCTTTTTGGGGGTCTCAAAACCCCAATGTCTCTGGAAGTTCTGGCCCCTCTCCCCAGAGGAGCACTCACACACTTCTCCTGTTTTACAAGCATAGGGGTCTGACTCACTGGTGTGCCTTAGAGGCCCCTGGATGGGATGCTCTGTGGTGTTCATGATCTCAAGGCCAGAAGAGGACTATGAATGTCTCTCTTCGTTCTCAAAACCTGAAGAAAATCCAGCATCTGAACCTGAGAAACTCATTCCCCACTCCCCTTTATCTTTGATTATTCTCATGGCTGGGTGACCCCTGAGCCTCCTCAAAGATTCAGCTGTGGGTTTTTCTGAATGATGGGCGGAGAGTGAGGCATGGAAGGGCAAGACGTGGCTAGGGTGCACTCTTCTTCAAAAGCCCTGCTGCGTCAGTAGACCTGGCTTCCTCTGGCCTGGCTCTCTCCCTCCTGGCCTCCCTCCTCCCCACCCAGCTCATCTGGCTGGCCTCCCTGTTCTAAGCTTATCAGCCGACCCCCGCAAGCACACTTCCTCAGCCC
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Task1_train_24433
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Assess the clinical impact of this variant on gene ATP6V0A1 (ATPase H+ transporting V0 subunit a1), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Neurodevelopmental disorder with epilepsy and brain atrophy
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CCTGGGAGCCATGGACTTCTTCCTCTCAATGCGGGCCCTGGGGCGGCAGCCAGCAGTGGTAGGAAAGAGCTCTTAACCACGGTGTTGGGATTTAGGGAACTCAGGGAACTAGGATTACCCTAGTTTTCAGGGTAAGTAAGGAAGCTTGAAGAGCCTGTTCCGGAAGAAAAGCCCAGAAATAGGCTAGGTGTCGACAGAGGTGAGGGAGAAGCAGACGTTCGCCCAGAGATGGCATGGTGGAGCCAGCCCCCTCCACGCTGGCTGCACCCCTGTGGCCTGGGCTGTTGTGGCTTTACCAGCCAAGCCACTTTCTCCCATCCCCATGTTCTCAGTGATTTCCCAAGGCATTTCTGGTGTCCTTTGGGAGTGGAATCACGTGGGTTTTGAAAGGAACTGCGGTGAAAAATAGACCCTGACCTGAGGGCAGGGGCCGATGGGGAGGCCACTGAGCCCTCAGGAGTGTCTGAAAGCTCAGAAGATTCTGGTCTGGGCTCTGCGGGGGGAAGCCCCATAAGGGAGCGCCTCCTGGTCTTTGGTCAGCTTGACAGAGAGGCCCAGGGAAAGTACCTGGGGCTTCCAGAATATACCAAATTCAGAAGCCCACATTCACCCCTGACTGTGCTTGGAGCAAACCTGAAAGTTCACTCCCAAGAGCTTGTTCCAGCCCATTCCTTTATTCTGGAAATAATTCTTGGTATTGAAAGGAAAACTGGGACAAAGGGAGCTTGAGGAAAACGAAAACAAACAAGAAACTGGAGATATGCTATTTAGTCTTAACCCAAACAGATATGCTGTTTGGCCTTAACCCATGTGGAAATTTGTAAACTTTGTCAGGATTTCCCTGTGCATGGTGGTGAAATCATGTAGGGAAAAAAAAATTCACCGTGTAATCTCTTTAGAAGTCACAAAAGAAAAAGAAGGTTATCTTGCTCCCAAAAGGCTGTAAAAAGAATAAGTAAAGTGGCCATAGAGGCCTAGTCTTCTCAGGACAGTGTCCGGGTTGAGAGTCTGTCTCCTGAAGCGCACTCTGGGGAAAATCCCTTCCTGCCCTCCTGCAGGTCCTTAGGGTCCCAGACCCAGACAGTCACTTTCTCAACAGAGTGCCGTCAACTCAGCACACACTCCTCTCTTGAGCACAGAGCCCCAGAGGGAGAAGAACAAATGTGTTGAAAAGAATCTTATTAAGATGTAGTTAATTAAAATGTAATGTATTGAGGGGAATGGAGGTGTCCCAGGTGAGGGCTAAGTCAGGCAGGATTTTTGGGGAAGGCATTGCCGAAATCACCACCTGAGCTCAACACTGGGTGCTTCTGGCCCCTCCAGAGTTGAGGTGCCATCCATGGGAAGTGCAGTCCCCTGCCCTGGCCCAGGTTCAAAGCGCCAAGTAGCCACAACTCAGAATGCCTGCACGTTCCCCTCCTAGCCTTATATCTTCTCTCTGGTTTCCTCCCACGACAGTTTGACTTTGGGGACACCATGGTCCACCAGGCCATCCACACCATCGAGTACTGCCTGGGCTGCATCTCCAACACTGCCTCCTACTTGCGGCTCTGGGCCCTCAGCCTCGCTCATGCGCGTGAGTACCTCTCTCCGGGCTCCGGAACTCTAGTTTCCCCCTCTGTGGGCGCACTGTCAGTTGGGGGGCTTAAGTCAAATGGAAATTACATGAAGGTTCTGGAATTATTCAGGTTCCTGAACCCAAGGAGAATGAGTACAGACAGGAGGCTCAGCACTTGTGCCAGGTTAGCTCTGCATGGTGGTCCCACTAAGGCAGTGGGAAGCCAGGATCCAGGGAACCCTAGAGCAGGGGGATGGCAGAGCAAAATTCATGGCCTACAGCTGCCTCTTGCCAAACTGCACTGGATTTTGTGTCTCCCATTCCCCAGAGCTGTCTGAGGTGCTTTGGACCATGGTGATCCACATCGGCCTGAGCGTGAAGAGCTTGGCGGGAGGTTTGGTGCTGTTCTTCTTCTTCACTGCCTTTGCCACCCTGACCGTGGCCATCCTCCTGATCATGGAGGGCCTCTCGGCCTTTCTCCACGCACTGCGCTTACACTGGTGAGGGGCAGTGGGGCAGGGCGGGCATGGGGGTGGATGTGTCCTTAGCTGCGGTGAGAGGGCAGCTTTTCTCCCACACACAGCCCTGCAGCTCTGTGCAGGAAAGATGAGCTGGCCCTGCACTAGCTTCACCTCAGGACACCCCAGCACCGGCATTGCCACAGAGTTTCGGAAAATGGTCACAGAAAAGCACAGCTCAGCCTTCCCTAGGCTCTAGGGAGATGTCCCTGGTGAGTGGTGTCAGGTCCCGCTCCCTGCCTTTAGCTGTCCCCAGTGCTCCTGATTTTGGCTTAAAGGGGCTGCTGGGGTCTTAGGGTTTCTGGTTTTCTCTCTGATGTGTAACTCTTCTGTCTTCAGAACAGTGGAAGCAGCTCTGGAATGTATGTTAAGTGCAGGAAAGGCTAGAACACGCTGCACCCCAGCTTTATCCTCTTTGTTCTGTCATTGTGCCAGGGGTCTTTGAGTTGGACCCCTGGCAGCTCCATTGTGGACCGGAGGGATTCCTGGCTCTATAGGGTGGAGGTCGGTACACTCACGCAGCTTCTTCACATGGGCAGGTTTGGGGTGGTTCTGTTTGTTTTCTTTAATGAAGCTTGTGACTCTTAATGGCTGTGTGTGGAGAGAGCATGAGTTCAGCCTCTGGGACTGGGAGAGCGGGGGTGTGGTCTGGGCTGTGACCACCTCAAACCAGCGTTGCCAGATGTAGCACATAAAAGTACAGTTTGGCTGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCAGGTGAATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAATATACAAAAATTAGCCAGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAAAGAATCTCTTAAACCCAGGAGGCAGGGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATAGGGGAGGGGTTGGGGGCCAGGCACGGTGGTTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACGCTGTCTCTACTAAAAATACAAAAACATTAGCCGGGCATGGTGGTGCATGCCTGGAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCATTGAGCCAAGATCGCGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCGGTCTCAAAAAATAAAAATACAGGGTGTATTTCACATAAACAACAAATAATTTTTTTAGTATGAGTATTTCCCAAATGTGCATGGGATATGCTTATACTAAAAACTGGGGCAGTCTGTATTTTCTGTGGCTGTTCCACCTCAGACTCCACTTCTTTGGGTCTCTATTTTCTCCTTTATGTTGTGATTCTCTTTTTGGGGGTCTCAAAACCCCAATGTCTCTGGAAGTTCTGGCCCCTCTCCCCAGAGGAGCACTCACACACTTCTCCTGTTTTACAAGCATAGGGGTCTGACTCACTGGTGTGCCTTAGAGGCCCCTGGATGGGATGCTCTGTGGTGTTCATGATCTCAAGGCCAGAAGAGGACTATGAATGTCTCTCTTCGTTCTCAAAACCTGAAGAAAATCCAGCATCTGAACCTGAGAAACTCATTCCCCACTCCCCTTTATCTTTGATTATTCTCATGGCTGGGTGACCCCTGAGCCTCCTCAAAGATTCAGCTGTGGGTTTTTCTGAATGATGGGCGGAGAGTGAGGCATGGAAGGGCAAGACGTGGCTAGGGTGCACTCTTCTTCAAAAGCCCTGCTGCGTCAGTAGACCTGGCTTCCTCTGGCCTGGCTCTCTCCCTCCTGGCCTCCCTCCTCCCCACCCAGCTCATCTGGCTGGCCTCCCTGTTCTAAGCTTATCAGCCGACCCCCGCAAGCACACTTCCTCAGCCC
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CCTGGGAGCCATGGACTTCTTCCTCTCAATGCGGGCCCTGGGGCGGCAGCCAGCAGTGGTAGGAAAGAGCTCTTAACCACGGTGTTGGGATTTAGGGAACTCAGGGAACTAGGATTACCCTAGTTTTCAGGGTAAGTAAGGAAGCTTGAAGAGCCTGTTCCGGAAGAAAAGCCCAGAAATAGGCTAGGTGTCGACAGAGGTGAGGGAGAAGCAGACGTTCGCCCAGAGATGGCATGGTGGAGCCAGCCCCCTCCACGCTGGCTGCACCCCTGTGGCCTGGGCTGTTGTGGCTTTACCAGCCAAGCCACTTTCTCCCATCCCCATGTTCTCAGTGATTTCCCAAGGCATTTCTGGTGTCCTTTGGGAGTGGAATCACGTGGGTTTTGAAAGGAACTGCGGTGAAAAATAGACCCTGACCTGAGGGCAGGGGCCGATGGGGAGGCCACTGAGCCCTCAGGAGTGTCTGAAAGCTCAGAAGATTCTGGTCTGGGCTCTGCGGGGGGAAGCCCCATAAGGGAGCGCCTCCTGGTCTTTGGTCAGCTTGACAGAGAGGCCCAGGGAAAGTACCTGGGGCTTCCAGAATATACCAAATTCAGAAGCCCACATTCACCCCTGACTGTGCTTGGAGCAAACCTGAAAGTTCACTCCCAAGAGCTTGTTCCAGCCCATTCCTTTATTCTGGAAATAATTCTTGGTATTGAAAGGAAAACTGGGACAAAGGGAGCTTGAGGAAAACGAAAACAAACAAGAAACTGGAGATATGCTATTTAGTCTTAACCCAAACAGATATGCTGTTTGGCCTTAACCCATGTGGAAATTTGTAAACTTTGTCAGGATTTCCCTGTGCATGGTGGTGAAATCATGTAGGGAAAAAAAAATTCACCGTGTAATCTCTTTAGAAGTCACAAAAGAAAAAGAAGGTTATCTTGCTCCCAAAAGGCTGTAAAAAGAATAAGTAAAGTGGCCATAGAGGCCTAGTCTTCTCAGGACAGTGTCCGGGTTGAGAGTCTGTCTCCTGAAGCGCACTCTGGGGAAAATCCCTTCCTGCCCTCCTGCAGGTCCTTAGGGTCCCAGACCCAGACAGTCACTTTCTCAACAGAGTGCCGTCAACTCAGCACACACTCCTCTCTTGAGCACAGAGCCCCAGAGGGAGAAGAACAAATGTGTTGAAAAGAATCTTATTAAGATGTAGTTAATTAAAATGTAATGTATTGAGGGGAATGGAGGTGTCCCAGGTGAGGGCTAAGTCAGGCAGGATTTTTGGGGAAGGCATTGCCGAAATCACCACCTGAGCTCAACACTGGGTGCTTCTGGCCCCTCCAGAGTTGAGGTGCCATCCATGGGAAGTGCAGTCCCCTGCCCTGGCCCAGGTTCAAAGCGCCAAGTAGCCACAACTCAGAATGCCTGCACGTTCCCCTCCTAGCCTTATATCTTCTCTCTGGTTTCCTCCCACGACAGTTTGACTTTGGGGACACCATGGTCCACCAGGCCATCCACACCATCGAGTACTGCCTGGGCTGCATCTCCAACACTGCCTCCTACTTGCGGCTCTGGGCCCTCAGCCTCGCTCATGCGCGTGAGTACCTCTCTCCGGGCTCCGGAACTCTAGTTTCCCCCTCTGTGGGCGCACTGTCAGTTGGGGGGCTTAAGTCAAATGGAAATTACATGAAGGTTCTGGAATTATTCAGGTTCCTGAACCCAAGGAGAATGAGTACAGACAGGAGGCTCAGCACTTGTGCCAGGTTAGCTCTGCATGGTGGTCCCACTAAGGCAGTGGGAAGCCAGGATCCAGGGAACCCTAGAGCAGGGGGATGGCAGAGCAAAATTCATGGCCTACAGCTGCCTCTTGCCAAACTGCACTGGATTTTGTGTCTCCCATTCCCCAGAGCTGTCTGAGGTGCTTTGGACCATGGTGATCCACATCGGCCTGAGCGTGAAGAGCTTGGCGGGAGGTTTGGTGCTGTTCTTCTTCTTCACTGCCTTTGCCACCCTGACCGTGGCCATCCTCCTGATCATGGAGGGCCTCTCGGCCTTTCTCCACGCACTGCACTTACACTGGTGAGGGGCAGTGGGGCAGGGCGGGCATGGGGGTGGATGTGTCCTTAGCTGCGGTGAGAGGGCAGCTTTTCTCCCACACACAGCCCTGCAGCTCTGTGCAGGAAAGATGAGCTGGCCCTGCACTAGCTTCACCTCAGGACACCCCAGCACCGGCATTGCCACAGAGTTTCGGAAAATGGTCACAGAAAAGCACAGCTCAGCCTTCCCTAGGCTCTAGGGAGATGTCCCTGGTGAGTGGTGTCAGGTCCCGCTCCCTGCCTTTAGCTGTCCCCAGTGCTCCTGATTTTGGCTTAAAGGGGCTGCTGGGGTCTTAGGGTTTCTGGTTTTCTCTCTGATGTGTAACTCTTCTGTCTTCAGAACAGTGGAAGCAGCTCTGGAATGTATGTTAAGTGCAGGAAAGGCTAGAACACGCTGCACCCCAGCTTTATCCTCTTTGTTCTGTCATTGTGCCAGGGGTCTTTGAGTTGGACCCCTGGCAGCTCCATTGTGGACCGGAGGGATTCCTGGCTCTATAGGGTGGAGGTCGGTACACTCACGCAGCTTCTTCACATGGGCAGGTTTGGGGTGGTTCTGTTTGTTTTCTTTAATGAAGCTTGTGACTCTTAATGGCTGTGTGTGGAGAGAGCATGAGTTCAGCCTCTGGGACTGGGAGAGCGGGGGTGTGGTCTGGGCTGTGACCACCTCAAACCAGCGTTGCCAGATGTAGCACATAAAAGTACAGTTTGGCTGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCAGGTGAATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAATATACAAAAATTAGCCAGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAAAGAATCTCTTAAACCCAGGAGGCAGGGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATAGGGGAGGGGTTGGGGGCCAGGCACGGTGGTTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACGCTGTCTCTACTAAAAATACAAAAACATTAGCCGGGCATGGTGGTGCATGCCTGGAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCATTGAGCCAAGATCGCGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCGGTCTCAAAAAATAAAAATACAGGGTGTATTTCACATAAACAACAAATAATTTTTTTAGTATGAGTATTTCCCAAATGTGCATGGGATATGCTTATACTAAAAACTGGGGCAGTCTGTATTTTCTGTGGCTGTTCCACCTCAGACTCCACTTCTTTGGGTCTCTATTTTCTCCTTTATGTTGTGATTCTCTTTTTGGGGGTCTCAAAACCCCAATGTCTCTGGAAGTTCTGGCCCCTCTCCCCAGAGGAGCACTCACACACTTCTCCTGTTTTACAAGCATAGGGGTCTGACTCACTGGTGTGCCTTAGAGGCCCCTGGATGGGATGCTCTGTGGTGTTCATGATCTCAAGGCCAGAAGAGGACTATGAATGTCTCTCTTCGTTCTCAAAACCTGAAGAAAATCCAGCATCTGAACCTGAGAAACTCATTCCCCACTCCCCTTTATCTTTGATTATTCTCATGGCTGGGTGACCCCTGAGCCTCCTCAAAGATTCAGCTGTGGGTTTTTCTGAATGATGGGCGGAGAGTGAGGCATGGAAGGGCAAGACGTGGCTAGGGTGCACTCTTCTTCAAAAGCCCTGCTGCGTCAGTAGACCTGGCTTCCTCTGGCCTGGCTCTCTCCCTCCTGGCCTCCCTCCTCCCCACCCAGCTCATCTGGCTGGCCTCCCTGTTCTAAGCTTATCAGCCGACCCCCGCAAGCACACTTCCTCAGCCC
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Task1_train_24434
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With a mutation on Chromosome 17 in gene LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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AGTTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTG
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AGTTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCGTGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTG
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Task1_train_24435
|
A mutation found in LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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AGTTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTG
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AGTTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCGTGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTG
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Task1_train_24436
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Assess the clinical impact of this variant on gene LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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TTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTG
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TTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATAGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTG
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Task1_train_24437
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This mutation is located in gene LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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TTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTG
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TTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATAGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTG
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Task1_train_24438
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Given this context: Chromosome 17, gene LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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TGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGG
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TGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACCTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGG
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Task1_train_24439
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A variant was discovered on Chromosome 17, affecting LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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TGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGG
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TGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACCTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGG
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Task1_train_24440
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A mutation on Chromosome 17 affecting LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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AGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCA
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AGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTATCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCA
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Task1_train_24441
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The gene LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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AGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCA
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AGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTATCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCA
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Task1_train_24442
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A variant has been detected on Chromosome 17 in LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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TGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATT
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TGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCTGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATT
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Task1_train_24443
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Gene LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase) 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; Mucopolysaccharidosis, MPS-III-B
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TGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATT
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TGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCTGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATT
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Task1_train_24444
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The gene NAGLU, LOC130060903 (N-acetyl-alpha-glucosaminidase| ATAC-STARR-seq lymphoblastoid silent region 8533) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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ATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCC
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ATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGACGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCC
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Task1_train_24445
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This alteration occurs within gene NAGLU (N-acetyl-alpha-glucosaminidase) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
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Pathogenic; Mucopolysaccharidosistype IIIB
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ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATG
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ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGGGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATG
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Task1_train_24446
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This variant lies on Chromosome 17 and affects the gene NAGLU (N-acetyl-alpha-glucosaminidase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATG
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ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGGGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATG
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Task1_train_24447
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This sequence variant lies in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATG
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ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGGGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATG
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Task1_train_24448
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Here is a variant affecting NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATG
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ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGAGGGTCTTGATCTCCTGACCTCGTATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCACCTGGCTAACTTTTGTATTTTTAGTACAGACGGGGTTTCACTGTATGTTGGCCAGGCTGGTCTCAAACCCCTGACTTGAGGTGATCTGCAAGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTAAGCCACCGCTCCTGGCCTAAGGTTGGCTATTTTTATGGTTATTTCTTGATTATATGATAAACAAGGGGTGGGTTAGTAATGAATTTTTCAGAAAAGGGGTGGGGATCCCCCCCAACTGAAGGTTCCTCCACTGTTTAGACCATATAGGGTAACTTCTGGACGTTGCCATGGCATTTGTAAACTGCCTGGCGCTGCTAGGAGTGTCTTTAGCATACTAATGCATTATAATTAGCGTATAATGAGCAGTGAGGACGATCAGAGGTCACCTTCCTGTCTTGGTTTTGGCAGGTTTTGACCAGTTTCTTTGCTGCATTCTGTTTTATCAGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGGGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATG
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Task1_train_24449
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Consider this mutation in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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GACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTC
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GACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAAAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTC
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Task1_train_24450
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Located on Chromosome 17, this mutation impacts NAGLU (N-acetyl-alpha-glucosaminidase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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GACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTC
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GACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCCTTTGGAAACCTTACTTCGCTACTTCGCTACTTACTGCACTACTTCGCAGCATCACAACTATGATGGAAATCCTTACTTACGTTAAATATCTGGTTTCTAGGTCACCTCCCTGACGGGGACGGTAGGGACCGTCTTCTCGTTCATCAGTAGGGAAGTAGCTATGGCAGTGCCTGATACAAAATAAACTCCAAATGTGTATTTATTAGATGGTTGGATGGAAGTTATTTGCGTGTGAAAGCGCGTTTTACCCGAAGGCGCTCTGTGAGGGCCAGCGGGTCCCCTTCGGCCCTGGAGCCGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCCCCCAAGGGAGTATCCTGGTACCCGGAAGCCGCGACTCCTGGCCCTGAGCCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAAAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTC
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Task1_train_24451
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Here’s a variant in NAGLU (N-acetyl-alpha-glucosaminidase) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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CCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTT
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CCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGTGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTT
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Task1_train_24452
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This mutation is located in gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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CCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTT
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CCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGTGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTT
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Task1_train_24453
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A variant affecting Chromosome 17, within the gene NAGLU (N-acetyl-alpha-glucosaminidase), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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CCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTT
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CCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTTTGAACCTGCGGACTGAGGAAGGACGCCTCCATCCCCCACCCTACAGGCCTGTGTTCCAGCGCCTGCCACACTATGGAGTGATGTGTTCACACAGCTGTCCTCCCCTGCCCATCTGTTAGACTGTGGGGGCAGGGATTCCCCGTTCCAGGAAAACACCGTGCAGAGGAGGGGCTCTGGCAGTGTGGCATGAAAGTGGAATATGCCACCCAAATACCCGCCAGGCTAGAGGGCCCTGGGAGAGTGCAGGGGACGAGTGCCTCAGAAGCCCAGCCCCGGTACCTGGTCTCAGCTCCACCTGGGGTGGGTCCCAGTGTGCAGCAGAAGGGCCGAGTTTGGAGCCCCTCCCCTCTCCTCTAGGTGGGGGATGGGGGATTTGTTCCAGGGCCGTGGACCCTCCAGGGTGGGATGCGCCCCTGCTCATGACACTGCCCGCAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGCGTGCCCACTGTCCCTTCCCCACCCTCCTCTATGGCGGGAGCCACCGTAGGTGTTTTCACCCGCCCCCCAGCATGGGCGCAGTGTCTCTCTCTAGAAGTGCTTTCAGCGTGCACAGTGGCTTGGGCCTCCTAAAAACTGAGGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTCGGGAGGCCTAGGCGGGCGGATCAGGAGTTCAGGAGATCGAGACCATCCTGGCCAACATTGTGAAACCCCGTCTCTACTAAAATACAAAGAAATAGCAACCTGGGCAACAGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAACTGAGGCTTCCAGTTTGAGGAGTGGGGCTCCTTCCCCCATCTCCCCTATGCAGCCAATCACCTGGTCCCTTGGATCCAACTCATGGGCAGCTCTAGATCTGCCTCCCTGGAAGCTTCTGTGCTGCAATGGCTGCTCCAGGCTCTGCTTAAGCTCTTCACACAGTTGCCCTGCCCTTCCATCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCTGTTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATGCGACAAAGGCAACACAGTGAACTCACCTACTCACAGGTCTCTTTCCTCTGGGCTGTGGGCTCCTTGATGGCAGCGTTCGGATTTTGTCTCAGTAGCCCTAGCACCCAGCACAAAGAAGCAATGAGTGAATGGTTGTTGAATGAATGAATGAATGAATGAAGATGAATATATTTCTATGTGTGGGCCCTTCTTCCTCAGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGGTAAAAGGATGGAAAAGGGAAGGGGCAGAATCGGTGATAGATGGTCATGGGCCCAGGAAGGGTGGTATTAGGCCGGCCCCAGGGCTCTTAACTGAGGCGGGGGGCTGCGTGTATCCTGGGAGATGAGGGCCTTCTCATAGGACAGCAGTGGCCATGCTCACCACCCTTCCTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGTGCTCCTTCGGCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGTGAGGTTCCGCTCACCCCCTCCACTTAGCTCAGAGAGGGAATTTTATTCCCTTCTAGAACATGACTTAAAAACTTAAGCTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTT
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Task1_train_24454
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With a mutation on Chromosome 17 in gene NAGLU (N-acetyl-alpha-glucosaminidase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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AGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTT
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AGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTGTGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTT
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Task1_train_24455
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This variant lies on Chromosome 17 and affects the gene NAGLU (N-acetyl-alpha-glucosaminidase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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AGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTT
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AGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTGTGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTT
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Task1_train_24456
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Chromosome 17 houses a mutation in gene NAGLU (N-acetyl-alpha-glucosaminidase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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AGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTT
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AGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTGTGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTT
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Task1_train_24457
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A sequence alteration has been identified in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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GCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTG
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GCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTGAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTG
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Task1_train_24458
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The gene NAGLU (N-acetyl-alpha-glucosaminidase) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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GCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTG
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GCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTGAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTG
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Task1_train_24459
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This variant impacts the gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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GCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACT
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GCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCTACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACT
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Task1_train_24460
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A genomic change on Chromosome 17 affects NAGLU (N-acetyl-alpha-glucosaminidase). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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GCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACT
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GCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCTACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACT
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Task1_train_24461
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This variant affects gene NAGLU (N-acetyl-alpha-glucosaminidase) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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GCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACT
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GCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGTTGGGAAAAGTCTTCAAGGCTCACCTGAGACCTCCCCTCCTTCAGGAAGCCTTGCTAGTGCCCCGCATGACCTCCTTTGCACCTGCTAATGTCTGGCTCCCATACTCTCGTAGGACTTAATGCATGCCAGTGGCCTCCCTGCCCGCCTCTTTGCCCCCATCACCAGGTGGCAGGAAACTCACTCATTCATTCAATAAACTTGGTCCAGCTGTCTGAGGCTGCCAGAACTGGCTGTGCTGGGTCCTGGGAGGCGGCAAGAAAGGTGCCCAAGGGCTTACCCCTGATAGGAGAGATATGTTGGCTGAAGGATACAATGTGGGGACAAGGACAGGAATATATGTGGGTTCCGCTCTCCTCTGCCGGGAGAGAGGGGCAGGAAGGGCTCAGGGCAGAGCCCAGCCTTGAAAAATGAGTGTTGCTTGGACGGACGCTTGGCTAATGCTTGTAATCCTAGCGTTTTGGGAGGCTGAGGCGTATGGATCACCTGCGGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTCGGTAGGCTGAGGCATGAGAATCTCTTGAAGCCAGGGGCCAGAGACTGCAGTGAGCCGAGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGAAAGAAAATTAAACACCTCATGTTCTCACTCATAGTGGGAGTTGAACAATGAGAACAACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTTTCGCGGTGTGGGGGTCAAGGGGAGGAGTAGCATTGGGACAGATACTTAATGCATGCGGGGCTGAAAACCTAGATGATGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGCAACAAACCTGCATGTTCTGCACAGAACTGAACTGAAAGTATAATTAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACTCAGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGAATGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGGAGCGTTGCTTGTTTCAGGCCACAGGAAGGGGAGAGATAGTGAAAGTTTTTCAGAGAAGGTGGCCAGGGAAGGAGAAGAAAGGACTGTAGGCAGAGAGCATAGCCTGTACAAAGCCATAGAGGCAAGAGAAACCAGGAGCTGTAGAGAAGTTGGCAAGGCTGTTGAACACTATGGTGAACACTATGGCGGCTTCCATGAAATATCTGAGCTTTTGCTCCCCACTAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCTACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACT
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Task1_train_24462
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Here is a genetic alteration in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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ACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGC
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ACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCCGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGC
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Task1_train_24463
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Here is a genetic alteration in NAGLU (N-acetyl-alpha-glucosaminidase) 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 axonal type 2V
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ACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGC
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ACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCCGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGC
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Task1_train_24464
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This gene mutation involves NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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CCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACG
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CCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGACCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACG
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Task1_train_24465
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Gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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CCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACG
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CCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGACCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACG
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Task1_train_24466
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This variant affects the gene NAGLU (N-acetyl-alpha-glucosaminidase) 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; not specified
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CCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACG
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CCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGACCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACG
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Task1_train_24467
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The gene NAGLU (N-acetyl-alpha-glucosaminidase) 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 axonal type 2V
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ACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTG
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ACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTAGTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTG
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Task1_train_24468
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A sequence alteration has been identified in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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ACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTG
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ACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTAGTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTG
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Task1_train_24469
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This variant lies on Chromosome 17 and affects the gene NAGLU (N-acetyl-alpha-glucosaminidase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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GCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCC
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GCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCGGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCC
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Task1_train_24470
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A variant has been detected on Chromosome 17 in NAGLU (N-acetyl-alpha-glucosaminidase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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GCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCC
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GCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCGGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCC
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Task1_train_24471
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Here is a variant affecting NAGLU (N-acetyl-alpha-glucosaminidase) 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 axonal type 2V
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GCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTT
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GCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTTGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTT
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Task1_train_24472
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Here is a genetic alteration in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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GCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTT
|
GCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTTGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTT
|
Task1_train_24473
|
This variant impacts the gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Mucopolysaccharidosis, MPS-III-B
|
GCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTT
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GCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTTGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTT
|
Task1_train_24474
|
This variant impacts the gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Sanfilippo syndrome
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CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTG
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CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCAGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTG
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Task1_train_24475
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Assess the clinical impact of this variant on gene NAGLU (N-acetyl-alpha-glucosaminidase), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTG
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CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCAGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTG
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Task1_train_24476
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Given this variant in gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTG
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CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCAGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTG
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Task1_train_24477
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Mutation context: Chromosome 17, Gene NAGLU (N-acetyl-alpha-glucosaminidase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTG
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CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCAGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTG
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Task1_train_24478
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A sequence alteration has been identified in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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CTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGT
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CTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTGGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGT
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Task1_train_24479
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Located on Chromosome 17, this mutation impacts NAGLU (N-acetyl-alpha-glucosaminidase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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CTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGT
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CTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTGGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGT
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Task1_train_24480
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A genetic alteration is present in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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CTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGT
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CTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTGGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGT
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Task1_train_24481
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A change on Chromosome 17 affects gene NAGLU (N-acetyl-alpha-glucosaminidase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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AGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGC
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AGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCTGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGC
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Task1_train_24482
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This mutation is located in gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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AGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGC
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AGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCTGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGC
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Task1_train_24483
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Here is a genetic alteration in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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AGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGC
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AGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCTGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGC
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Task1_train_24484
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This is a variant in NAGLU (N-acetyl-alpha-glucosaminidase), located on Chromosome 17. Is this mutation a likely cause of disease or not?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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CATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTC
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CATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTTGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTC
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Task1_train_24485
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A mutation in NAGLU (N-acetyl-alpha-glucosaminidase), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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CATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTC
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CATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTTGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTC
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Task1_train_24486
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This variant affects gene NAGLU (N-acetyl-alpha-glucosaminidase) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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CACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTCAGAAGCTTCCCGAACCCTGTCCTTTGG
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CACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTGTGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTCAGAAGCTTCCCGAACCCTGTCCTTTGG
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Task1_train_24487
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The gene NAGLU (N-acetyl-alpha-glucosaminidase), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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CACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTCAGAAGCTTCCCGAACCCTGTCCTTTGG
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CACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTGTGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTCAGAAGCTTCCCGAACCCTGTCCTTTGG
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Task1_train_24488
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Gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2V
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CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTCAGAAGCTTCCCGAACCCTGTCCTTTGGGCCTTTTATGGAGAACTCCATTGGCTGTCCATGACTGAAGCATGGACAACTGTGATAATGTGATTGGGCAAA
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CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCGGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTCAGAAGCTTCCCGAACCCTGTCCTTTGGGCCTTTTATGGAGAACTCCATTGGCTGTCCATGACTGAAGCATGGACAACTGTGATAATGTGATTGGGCAAA
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Task1_train_24489
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This is a variant in NAGLU (N-acetyl-alpha-glucosaminidase), located on Chromosome 17. Is this mutation a likely cause of disease or not?
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Pathogenic; Mucopolysaccharidosis, MPS-III-B
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CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTCAGAAGCTTCCCGAACCCTGTCCTTTGGGCCTTTTATGGAGAACTCCATTGGCTGTCCATGACTGAAGCATGGACAACTGTGATAATGTGATTGGGCAAA
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CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCACCTCAGCCTCCCAAAGTACTGGTATTACAGGCGTGATCCACTGCGACTGGCCTTGATTTTGTTTTTGAGACAGAATCTTACTCTGTCGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCATGGGTTCAAGTGATTCTTGTGCCTCTACCTCCCGAGTAGCCGGGATTACAGGCACCTGCCATTACGCTAGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCCCCACATTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCCCTCAGAGTACTGGGATTATAGGTGTGGGCCACCACGCCCATTCAGAAACCTCCATGTTTTAAGGAGCCCTCTGGGTAACTCTCATGTTCACCCAAGCTGCTGAACCCTGTCCTGGAGTTTTCAGAGGGACGCGTATGTGCCACAGAGCGTCCCGCTGGTGGGGGTCATGGGAAGCCATGACCTGGGATAGACAGTCGTCTGTAGAGTGGGGTGAACATTCCCTGGGCCCTCTGTTTCATCACTCCTCTTCTCTGTTCCCCCTACCTCCTGTCCACAGTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTCTGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTTCTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGCACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAGCTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGTGTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGAAGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAACAAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCGGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAATGTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGAGGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCCGGCTCTTGGTGATAGATTCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGGCCCAGAGCTGGACAGACATCACAGGATAACCCAGGCCTGGGAGGAGGCCCCACGGCCTGCTGGTGGGGTCTGACCTGGGGGGATTGGAGGGAAATGACCTGCCCTCCACCACCACCCAAAGTGTGGGATTAAAGTACTGTTTTCTTTCCACTTAAACTGATGAGTCCCCTGGGTCTGTCAAAATGAGAAGGTCACTGCTGCCACGCTTGGGAGGACTCAGGGCTATAGCATGGCCCTGGGGTGGGACCTGTTCTCCCATCCCTTGCCTCACGTCCCTGTTTTTGTTTGTTTGTTTGTTTGTGACGGAGCCTTGGTCTGTTGCCCAGGCTTGAGTACAATGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCCGGTAGCTGGGACTATAGGCATGCACCACCACGCCAGGCTAATTTTTTTTTTTCCAAGATGGAGTCTTGCTCTGTCGCCCAGGTTGGAGTTTAGTGGCACCATATTGGTTTACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTACCAGGGAGTTAGGACTACGGGCCTGTGCCATCACGCCCGGCTAATTTTTGTATTTTTCATAGAGATAAGGTTTCACCATGTTGGCCAGGCTGGTCTTTAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCCACGTCTCTCTTTTTAACACTAATGTTACCCTGACCTTTGAACGTAGAATGCCCTTCTGTTGCAGGAAAACCTCTTTTCAAACCATGTTTGTCCTTTGCTGGCATGCCACAGCAACAGTCACCAACACAGAAGACTTCTGTGACCAAATATTTGGAGGATTTTCCCCACACACACCAAGCAGCAGACATCAGCTGGGTGTCCTCCAATTCAGTTCCAATGTAATCAACCAGAGACAGCATCAGATCCCACAGGGTTAGGGTGCAGATCCATGAGACCACCCCCTCCTTCCCAACGGTTACAAGTCCTGATCCCTGGAACTTCTGACTAACTGGCTTCAAGTTGGAGTTCCCATGACCCCCTTCCCCTCTTTGGAGTCAACTCATTTGCGACAGTGACCCACGAAACACAGGGAAACCCTTATTATGTTTATTGCTTTATTACAGAGGAAAAAAATTTTTTTCTTTCTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGAATGACTGCAGTGGCAGGATCTGGCTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTACAGCCTCCATCCCCCCAAACCCCACGCCTCAGCGCCCCACCCCGCAAGTGGCTGGGACTCTAAGCATACACCACCACACCCAGCTAATTTTTTTGTAGTTTTTGCAAAGACGGGGTCTCATTCTGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCCAGCAATCCCCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCGTGCCCAACCTCAAAGGATATTTTAAAGGATAGAAATAAACAGCCATATGAAGAGATACAGACAGGGCGGTCTGGAAGGGCCCAGAGCAGGAGCTTCTATCTCCATAGAGTTGGGGTTACATCACCCTCCAGGCACATGGATGAGTTCTTCACCTTCTGTCAGCCTCCACACGTTCAGCTCTCAGAAGCTTCCCGAACCCTGTCCTTTGGGCCTTTTATGGAGAACTCCATTGGCTGTCCATGACTGAAGCATGGACAACTGTGATAATGTGATTGGGCAAA
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Task1_train_24490
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A sequence alteration has been identified in COASY (Coenzyme A synthase) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; Neurodegeneration with brain iron accumulation
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AGCTGCAGGTAGCAGTGCCACAGACAGGAGGAGGAAACTCAAGCATGGCATGGGTCTTGGAATTTTCCATCTGCCTCTGATGCCCTCTGGCACTGCTCGTTCTCTGGAGTGGTTTCCTGGTGGCTTATTCTCTGGACACATGCCAGCCCTTGGAGTGACTATTGTGCTTGCCTGTTTCTTCACCTTCATGCTCCCCTCACCATCACCATAGGCCTTACCAGTTGAACCCTTTCTGCCACCCCCTCTGGGGATACTGTACTTAGGGACACTTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGTTCTTCTGGGCTCCTTCCCCAGGCAAGTTGCTCCCTGAGCTGCTCCAACCTTATACAGAACGTGTGGAACATCTGAGTGAATTCCTGGTGGACATCAAGCCCTCCTTGACTTTTGATGTCATCCCCCTGCTGGACCCCTATGGGCCCGCTGGCTCTGACCCCTCCCTGGAGTTCCTGGTGGTCAGCGAGGAGACCTATCGTGGGGGGATGGCCATCAACCGCTTCCGCCTTGAGAATGTAACCCCTGAGGGAGACTGGCAGAGGGAGTGGATGGGGGACGGGGAAGGCCATTTTGAGGGGGCTGTTGGAAGTACCATGGCCCCAGAGGAGAGAAGTGGGGGCTCAGGGTGGTGGGAAGAAGCAAGGAGGAACTGGTTCTCAGTTTGCCCGCTGAGTCGGAGGAGGAGGAGCCTGGGTAGGAAGGGGAGGATGGGGGGGCAGGTTGGATGTCAGGGTCTTCCTCTCACTCCCTCCTTCCCTCTTTTTACCCTTTCCTCTTTACCCCAGGACCTGGAGGAACTTGCTTTGTACCAGATCCAGCTGCTGAAGGACCTCAGACATACAGAGAATGAAGAGGACAAAGTCAGCTCCTCCAGCTTCCGCCAGCGAATGTTGGGGAACCTGCTTCGGCCTCCATATGTAAGCTCCTCTCCCTCCTTCCCTCCTGCTTGGTGTCCTGGCAATGCTGGAGAGTAGAAGCTGAGGGGCTCAGCCCCAGGCATGAGGCTGAGGGCCCCAGTAACTGTGGGTTCCCTTTCACCTATCCCCAGGAAAGGCCAGAGCTCCCCACATGTCTCTATGTAATTGGGCTGACTGGCATCAGTGGCTCTGGGAAGAGCTCAATAGCTCAGCGACTGAAGGGCCTGGGGGCGTTTGTCATTGACAGTGACCACCTGGGTCATCGGGCCTATGCCCCAGGTGGCCCTGCCTACCAGCCTGTGGTGGAGGCCTTTGGAACAGGTAATAACTGGGGAAGGCTGAAAGTGGCCTGGAGTGAGGAGCTAGCCAGGCCTCTGTGCTCAGTTGTCTGTCTGTGTTGTCCAGATATTCTCCATAAAGATGGCATCATCAACAGGAAGGTCCTAGGCAGCCGGGTGTTTGGGAATAAGGTAAACAATAACTTCCTAAGGGCTCCTAAGCCGCTACTAGACCCAGGGGTCAGGGTCCAGTGGACCTCTCTGGTCTGGCCCAGAATGCCATTTCCATTGATCTGTTCCCAACACCACCTTGCTCGGGCTGGCTGCCTCTTCTAGAGAAGGTAACCTCTGCCCTCTGTTCCCCTCCCCAGAAGCAGCTGAAGATACTCACGGACATTATGTGGCCAATTATCGCAAAGCTGGCCCGAGAGGAGATGGATCGGGCTGTGGCTGAGGGTGAGTGGGAGGGAGGATGGCAACAGCTAAGGGGACAGTTAAGCTGTTTCTTCCCCTGGGAGCTTCCCTGCCCAACGTGGGACTGTCTGTTCACCCTGGGACTGTGTTCTGCCTGGGAGAACGTCGGCACTGCTGGCGGTGACTGGGGTCTCCCCACAGGAAAGCGTGTGTGTGTGATTGATGCCGCTGTGTTGCTTGAAGCCGGCTGGCAGAACCTGGTCCATGAGGTGTGGACTGCTGTCATCCCAGAGACTGAGGTATCTCGCCCCACCCCCCACACCATCCCTACTGCAGATCCTATCCTGTGAGCTGGAATTCTTCCTGACAAATGTCTCGTCTGTGCTCAGGCTGTAAGACGCATTGTGGAGAGGGATGGCCTCAGTGAAGCCGCGGCTCAAAGCCGGCTGCAGAGCCAGATGAGCGGGCAGCAGCTTGTGGAACAGAGCCACGTGGTGCTCAGCACCTTGTGGGAGCCGCATATCACCCAACGCCAGGTTGGTGCCCAGGGCAAGGCCGGGTTGTGGGGAAGGAGTCTCCAGTGGGTACTGCCTGACCCTGCCCTCTCTTCCTCCCAACATCCTGGCCTGTCTGAAGGTGGAGAAAGCCTGGGCCCTCTTGCAGAAGCGCATTCCCAAGACTCATCAGGCCCTCGACTGAAAAGTTCTCAGTGGGGCCAGACTGGCTCCTGGAGCTGACAAGCGACCCCGTGGTGAGGAGAAATGGGGGCCTTGATGCTCACCCTGGTTCAGGCCCAGAGGTCCAAGCTATACTGTGCAGGACATGGCCAGGCCTGGTGGACACAGGAAGCCTACCCAACACGCTGGTATTTGGCCAACACTGAGGATGTGGTTCATGGGGGAGCAGTCCCCTCCCCACTCTTGCCCATGGGTGACTCTTACCCACAGCTGACTAGGGCCAGCGCAAATACTGGAACCTGTAACAGAATTAAAGGTGAATGTTCTGAGATGTTGCTTGTATGGTGTCTGCTTCCTGTTCCAATGCCCCTAAGTATCTTTGGGATCCTTAAGCCACAAGTGCAGGGCCCAGGCCTGAGCTGGAAGCCTGGGCAATGCAGTGGTTAAGAGAATGGCCTTTGAGGCTAGCCAGAGGCGAGCTTTGGCCCTCCCACTGACCAGCTGTGTTCTTCTGAGTAAGGTGTAGACTTTCTAGGTACTGCCGTGTTTTATTGTTTTTGTTTTGTTTTTAATATGAGAGGCCGCATAACCTAGCTAGCAGGTTCTTTGCAAGGGTTCATTCCACATGCATCCTGCCAGACACTGGGCTGGGTGTTGGAAGATCAGCCTTCCGCGCGCCAGGCGGGGCCTCTGCCCTCACAGAGCTTGCAGCCTGGTGGGGTCGGACGATGTGGCTGGGGGCTTCTCTGCCCGGTTCCTGACACACCGGCCAGCAGTGCAGGTCCGGTGAGCGCGGGGAGGCCGCCCTCAGGGTAACGTGGGGAGCCGGCCGGCCGGACAGTGCGCGTGCACACACTATCTGCGGCGGTGTGCTGACAAGCCAATTGAGGGGACTCCATCTTACAAAACGCGCTTCATGTCGCCGCCATTCCACTGCCTAACCCGGGGAGGGCAGGCACGGCGGGGAGCAGTCTCGAAGGAGGCTGGCGCCAGGCCAAGCGCCGGGCCTTGACGGCTGGAACCGTGGAGTAAAGTCTTTGGGCTGCGCATGCGCGATGCTTCGCCCTGCCCCACCTCTCGGTCGCGGATTGGCGGGCGCGGGTCACGTGGGCACGCCACCCGCTTCCTCGCCGCAGGGGGCCCGCCCGCTGGCCCGTTTCCGGTCCGGTGGGTACAAGATGACGGAGCCGGGCGCCTCTCCCGAGGACCCTTGGGTCAAGGCAAGCCCCGTGGGCGCGCACGCCGGCGAGGGGAGGGCGGGTCGGGCTCGTGCACGTAGGGGGGCCGGAAGACGAGGGGCTTCCCTCCTGTCCCCAAAGTCCCCCACGCTCTCCGTGCCCCGGGGCTGCAGAGAAGACAGCTCTCACCCCGCGTGTGCCAAGGTGGGGAGACAAACGAGGCGTGTGCGCGCGAGTCGGGGGAACGGGGCACTGGGGTGGAGTAGGGGCGGAAGGGATCATACACAGGGGAGGCACTCGCACGCCCTAGCCTGTGCCAGTCTCGGGGGACTCATTAAGCTGCCCGCGCACCCCGGGCTGTGTGTGTGCAAGCGCGCAGGGTGACAGAGGCGCCTTCCCGGAATGGGGGGCGCGCTGTGCGTGCCTGCAGTGGAAGGGGCGCCTCCCCCTAGGGGCGGAGGTCTGACGGGCCCTTCCCGTGCTCTGTGCCGCAGGTGGAGTATGCCTACAGCGACAACAGCCTGGACCCCGGTGAGTAGCTGCCCCATCTTAAGCTCTAGAGGGACACTCCCGCCCAGGCTCTCTAGATTC
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AGCTGCAGGTAGCAGTGCCACAGACAGGAGGAGGAAACTCAAGCATGGCATGGGTCTTGGAATTTTCCATCTGCCTCTGATGCCCTCTGGCACTGCTCGTTCTCTGGAGTGGTTTCCTGGTGGCTTATTCTCTGGACACATGCCAGCCCTTGGAGTGACTATTGTGCTTGCCTGTTTCTTCACCTTCATGCTCCCCTCACCATCACCATAGGCCTTACCAGTTGAACCCTTTCTGCCACCCCCTCTGGGGATACTGTACTTAGGGACACTTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGTTCTTCTGGGCTCCTTCCCCAGGCAAGTTGCTCCCTGAGCTGCTCCAACCTTATACAGAACGTGTGGAACATCTGAGTGAATTCCTGGTGGACATCAAGCCCTCCTTGACTTTTGATGTCATCCCCCTGCTGGACCCCTATGGGCCCGCTGGCTCTGACCCCTCCCTGGAGTTCCTGGTGGTCAGCGAGGAGACCTATCGTGGGGGGATGGCCATCAACCGCTTCCGCCTTGAGAATGTAACCCCTGAGGGAGACTGGCAGAGGGAGTGGATGGGGGACGGGGAAGGCCATTTTGAGGGGGCTGTTGGAAGTACCATGGCCCCAGAGGAGAGAAGTGGGGGCTCAGGGTGGTGGGAAGAAGCAAGGAGGAACTGGTTCTCAGTTTGCCCGCTGAGTCGGAGGAGGAGGAGCCTGGGTAGGAAGGGGAGGATGGGGGGGCAGGTTGGATGTCAGGGTCTTCCTCTCACTCCCTCCTTCCCTCTTTTTACCCTTTCCTCTTTACCCCAGGACCTGGAGGAACTTGCTTTGTACCAGATCCAGCTGCTGAAGGACCTCAGACATACAGAGAATGAAGAGGACAAAGTCAGCTCCTCCAGCTTCCGCCAGCGAATGTTGGGGAACCTGCTTCGGCCTCCATATGTAAGCTCCTCTCCCTCCTTCCCTCCTGCTTGGTGTCCTGGCAATGCTGGAGAGTAGAAGCTGAGGGGCTCAGCCCCAGGCATGAGGCTGAGGGCCCCAGTAACTGTGGGTTCCCTTTCACCTATCCCCAGGAAAGGCCAGAGCTCCCCACATGTCTCTATGTAATTGGGCTGACTGGCATCAGTGGCTCTGGGAAGAGCTCAATAGCTCAGCGACTGAAGGGCCTGGGGGCGTTTGTCATTGACAGTGACCACCTGGGTCATCGGGCCTATGCCCCAGGTGGCCCTGCCTACCAGCCTGTGGTGGAGGCCTTTGGAACAGGTAATAACTGGGGAAGGCTGAAAGTGGCCTGGAGTGAGGAGCTAGCCAGGCCTCTGTGCTCAGTTGTCTGTCTGTGTTGTCCAGATATTCTCCATAAAGATGGCATCATCAACAGGAAGGTCCTAGGCAGCCGGGTGTTTGGGAATAAGGTAAACAATAACTTCCTAAGGGCTCCTAAGCCGCTACTAGACCCAGGGGTCAGGGTCCAGTGGACCTCTCTGGTCTGGCCCAGAATGCCATTTCCATTGATCTGTTCCCAACACCACCTTGCTCGGGCTGGCTGCCTCTTCTAGAGAAGGTAACCTCTGCCCTCTGTTCCCCTCCCCAGAAGCAGCTGAAGATACTCACGGACATTATGTGGCCAATTATCGCAAAGCTGGCCCGAGAGGAGATGGATCGGGCTGTGGCTGAGGGTGAGTGGGAGGGAGGATGGCAACAGCTAAGGGGACAGTTAAGCTGTTTCTTCCCCTGGGAGCTTCCCTGCCCAACGTGGGACTGTCTGTTCACCCTGGGACTGTGTTCTGCCTGGGAGAACGTCGGCACTGCTGGCGGTGACTGGGGTCTCCCCACAGGAAAGCGTGTGTGTGTGATTGATGCCGCTGTGTTGCTTGAAGCCGGCTGGCAGAACCTGGTCCATGAGGTGTGGACTGCTGTCATCCCAGAGACTGAGGTATCTCGCCCCACCCCCCACACCATCCCTACTGCAGATCCTATCCTGTGAGCTGGAATTCTTCCTGACAAATGTCTCGTCTGTGCTCAGGCTGTAAGATGCATTGTGGAGAGGGATGGCCTCAGTGAAGCCGCGGCTCAAAGCCGGCTGCAGAGCCAGATGAGCGGGCAGCAGCTTGTGGAACAGAGCCACGTGGTGCTCAGCACCTTGTGGGAGCCGCATATCACCCAACGCCAGGTTGGTGCCCAGGGCAAGGCCGGGTTGTGGGGAAGGAGTCTCCAGTGGGTACTGCCTGACCCTGCCCTCTCTTCCTCCCAACATCCTGGCCTGTCTGAAGGTGGAGAAAGCCTGGGCCCTCTTGCAGAAGCGCATTCCCAAGACTCATCAGGCCCTCGACTGAAAAGTTCTCAGTGGGGCCAGACTGGCTCCTGGAGCTGACAAGCGACCCCGTGGTGAGGAGAAATGGGGGCCTTGATGCTCACCCTGGTTCAGGCCCAGAGGTCCAAGCTATACTGTGCAGGACATGGCCAGGCCTGGTGGACACAGGAAGCCTACCCAACACGCTGGTATTTGGCCAACACTGAGGATGTGGTTCATGGGGGAGCAGTCCCCTCCCCACTCTTGCCCATGGGTGACTCTTACCCACAGCTGACTAGGGCCAGCGCAAATACTGGAACCTGTAACAGAATTAAAGGTGAATGTTCTGAGATGTTGCTTGTATGGTGTCTGCTTCCTGTTCCAATGCCCCTAAGTATCTTTGGGATCCTTAAGCCACAAGTGCAGGGCCCAGGCCTGAGCTGGAAGCCTGGGCAATGCAGTGGTTAAGAGAATGGCCTTTGAGGCTAGCCAGAGGCGAGCTTTGGCCCTCCCACTGACCAGCTGTGTTCTTCTGAGTAAGGTGTAGACTTTCTAGGTACTGCCGTGTTTTATTGTTTTTGTTTTGTTTTTAATATGAGAGGCCGCATAACCTAGCTAGCAGGTTCTTTGCAAGGGTTCATTCCACATGCATCCTGCCAGACACTGGGCTGGGTGTTGGAAGATCAGCCTTCCGCGCGCCAGGCGGGGCCTCTGCCCTCACAGAGCTTGCAGCCTGGTGGGGTCGGACGATGTGGCTGGGGGCTTCTCTGCCCGGTTCCTGACACACCGGCCAGCAGTGCAGGTCCGGTGAGCGCGGGGAGGCCGCCCTCAGGGTAACGTGGGGAGCCGGCCGGCCGGACAGTGCGCGTGCACACACTATCTGCGGCGGTGTGCTGACAAGCCAATTGAGGGGACTCCATCTTACAAAACGCGCTTCATGTCGCCGCCATTCCACTGCCTAACCCGGGGAGGGCAGGCACGGCGGGGAGCAGTCTCGAAGGAGGCTGGCGCCAGGCCAAGCGCCGGGCCTTGACGGCTGGAACCGTGGAGTAAAGTCTTTGGGCTGCGCATGCGCGATGCTTCGCCCTGCCCCACCTCTCGGTCGCGGATTGGCGGGCGCGGGTCACGTGGGCACGCCACCCGCTTCCTCGCCGCAGGGGGCCCGCCCGCTGGCCCGTTTCCGGTCCGGTGGGTACAAGATGACGGAGCCGGGCGCCTCTCCCGAGGACCCTTGGGTCAAGGCAAGCCCCGTGGGCGCGCACGCCGGCGAGGGGAGGGCGGGTCGGGCTCGTGCACGTAGGGGGGCCGGAAGACGAGGGGCTTCCCTCCTGTCCCCAAAGTCCCCCACGCTCTCCGTGCCCCGGGGCTGCAGAGAAGACAGCTCTCACCCCGCGTGTGCCAAGGTGGGGAGACAAACGAGGCGTGTGCGCGCGAGTCGGGGGAACGGGGCACTGGGGTGGAGTAGGGGCGGAAGGGATCATACACAGGGGAGGCACTCGCACGCCCTAGCCTGTGCCAGTCTCGGGGGACTCATTAAGCTGCCCGCGCACCCCGGGCTGTGTGTGTGCAAGCGCGCAGGGTGACAGAGGCGCCTTCCCGGAATGGGGGGCGCGCTGTGCGTGCCTGCAGTGGAAGGGGCGCCTCCCCCTAGGGGCGGAGGTCTGACGGGCCCTTCCCGTGCTCTGTGCCGCAGGTGGAGTATGCCTACAGCGACAACAGCCTGGACCCCGGTGAGTAGCTGCCCCATCTTAAGCTCTAGAGGGACACTCCCGCCCAGGCTCTCTAGATTC
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Task1_train_24491
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This variant affects the gene COASY (Coenzyme A synthase) 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; Neurodegeneration with brain iron accumulation 6
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AGCTGCAGGTAGCAGTGCCACAGACAGGAGGAGGAAACTCAAGCATGGCATGGGTCTTGGAATTTTCCATCTGCCTCTGATGCCCTCTGGCACTGCTCGTTCTCTGGAGTGGTTTCCTGGTGGCTTATTCTCTGGACACATGCCAGCCCTTGGAGTGACTATTGTGCTTGCCTGTTTCTTCACCTTCATGCTCCCCTCACCATCACCATAGGCCTTACCAGTTGAACCCTTTCTGCCACCCCCTCTGGGGATACTGTACTTAGGGACACTTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGTTCTTCTGGGCTCCTTCCCCAGGCAAGTTGCTCCCTGAGCTGCTCCAACCTTATACAGAACGTGTGGAACATCTGAGTGAATTCCTGGTGGACATCAAGCCCTCCTTGACTTTTGATGTCATCCCCCTGCTGGACCCCTATGGGCCCGCTGGCTCTGACCCCTCCCTGGAGTTCCTGGTGGTCAGCGAGGAGACCTATCGTGGGGGGATGGCCATCAACCGCTTCCGCCTTGAGAATGTAACCCCTGAGGGAGACTGGCAGAGGGAGTGGATGGGGGACGGGGAAGGCCATTTTGAGGGGGCTGTTGGAAGTACCATGGCCCCAGAGGAGAGAAGTGGGGGCTCAGGGTGGTGGGAAGAAGCAAGGAGGAACTGGTTCTCAGTTTGCCCGCTGAGTCGGAGGAGGAGGAGCCTGGGTAGGAAGGGGAGGATGGGGGGGCAGGTTGGATGTCAGGGTCTTCCTCTCACTCCCTCCTTCCCTCTTTTTACCCTTTCCTCTTTACCCCAGGACCTGGAGGAACTTGCTTTGTACCAGATCCAGCTGCTGAAGGACCTCAGACATACAGAGAATGAAGAGGACAAAGTCAGCTCCTCCAGCTTCCGCCAGCGAATGTTGGGGAACCTGCTTCGGCCTCCATATGTAAGCTCCTCTCCCTCCTTCCCTCCTGCTTGGTGTCCTGGCAATGCTGGAGAGTAGAAGCTGAGGGGCTCAGCCCCAGGCATGAGGCTGAGGGCCCCAGTAACTGTGGGTTCCCTTTCACCTATCCCCAGGAAAGGCCAGAGCTCCCCACATGTCTCTATGTAATTGGGCTGACTGGCATCAGTGGCTCTGGGAAGAGCTCAATAGCTCAGCGACTGAAGGGCCTGGGGGCGTTTGTCATTGACAGTGACCACCTGGGTCATCGGGCCTATGCCCCAGGTGGCCCTGCCTACCAGCCTGTGGTGGAGGCCTTTGGAACAGGTAATAACTGGGGAAGGCTGAAAGTGGCCTGGAGTGAGGAGCTAGCCAGGCCTCTGTGCTCAGTTGTCTGTCTGTGTTGTCCAGATATTCTCCATAAAGATGGCATCATCAACAGGAAGGTCCTAGGCAGCCGGGTGTTTGGGAATAAGGTAAACAATAACTTCCTAAGGGCTCCTAAGCCGCTACTAGACCCAGGGGTCAGGGTCCAGTGGACCTCTCTGGTCTGGCCCAGAATGCCATTTCCATTGATCTGTTCCCAACACCACCTTGCTCGGGCTGGCTGCCTCTTCTAGAGAAGGTAACCTCTGCCCTCTGTTCCCCTCCCCAGAAGCAGCTGAAGATACTCACGGACATTATGTGGCCAATTATCGCAAAGCTGGCCCGAGAGGAGATGGATCGGGCTGTGGCTGAGGGTGAGTGGGAGGGAGGATGGCAACAGCTAAGGGGACAGTTAAGCTGTTTCTTCCCCTGGGAGCTTCCCTGCCCAACGTGGGACTGTCTGTTCACCCTGGGACTGTGTTCTGCCTGGGAGAACGTCGGCACTGCTGGCGGTGACTGGGGTCTCCCCACAGGAAAGCGTGTGTGTGTGATTGATGCCGCTGTGTTGCTTGAAGCCGGCTGGCAGAACCTGGTCCATGAGGTGTGGACTGCTGTCATCCCAGAGACTGAGGTATCTCGCCCCACCCCCCACACCATCCCTACTGCAGATCCTATCCTGTGAGCTGGAATTCTTCCTGACAAATGTCTCGTCTGTGCTCAGGCTGTAAGACGCATTGTGGAGAGGGATGGCCTCAGTGAAGCCGCGGCTCAAAGCCGGCTGCAGAGCCAGATGAGCGGGCAGCAGCTTGTGGAACAGAGCCACGTGGTGCTCAGCACCTTGTGGGAGCCGCATATCACCCAACGCCAGGTTGGTGCCCAGGGCAAGGCCGGGTTGTGGGGAAGGAGTCTCCAGTGGGTACTGCCTGACCCTGCCCTCTCTTCCTCCCAACATCCTGGCCTGTCTGAAGGTGGAGAAAGCCTGGGCCCTCTTGCAGAAGCGCATTCCCAAGACTCATCAGGCCCTCGACTGAAAAGTTCTCAGTGGGGCCAGACTGGCTCCTGGAGCTGACAAGCGACCCCGTGGTGAGGAGAAATGGGGGCCTTGATGCTCACCCTGGTTCAGGCCCAGAGGTCCAAGCTATACTGTGCAGGACATGGCCAGGCCTGGTGGACACAGGAAGCCTACCCAACACGCTGGTATTTGGCCAACACTGAGGATGTGGTTCATGGGGGAGCAGTCCCCTCCCCACTCTTGCCCATGGGTGACTCTTACCCACAGCTGACTAGGGCCAGCGCAAATACTGGAACCTGTAACAGAATTAAAGGTGAATGTTCTGAGATGTTGCTTGTATGGTGTCTGCTTCCTGTTCCAATGCCCCTAAGTATCTTTGGGATCCTTAAGCCACAAGTGCAGGGCCCAGGCCTGAGCTGGAAGCCTGGGCAATGCAGTGGTTAAGAGAATGGCCTTTGAGGCTAGCCAGAGGCGAGCTTTGGCCCTCCCACTGACCAGCTGTGTTCTTCTGAGTAAGGTGTAGACTTTCTAGGTACTGCCGTGTTTTATTGTTTTTGTTTTGTTTTTAATATGAGAGGCCGCATAACCTAGCTAGCAGGTTCTTTGCAAGGGTTCATTCCACATGCATCCTGCCAGACACTGGGCTGGGTGTTGGAAGATCAGCCTTCCGCGCGCCAGGCGGGGCCTCTGCCCTCACAGAGCTTGCAGCCTGGTGGGGTCGGACGATGTGGCTGGGGGCTTCTCTGCCCGGTTCCTGACACACCGGCCAGCAGTGCAGGTCCGGTGAGCGCGGGGAGGCCGCCCTCAGGGTAACGTGGGGAGCCGGCCGGCCGGACAGTGCGCGTGCACACACTATCTGCGGCGGTGTGCTGACAAGCCAATTGAGGGGACTCCATCTTACAAAACGCGCTTCATGTCGCCGCCATTCCACTGCCTAACCCGGGGAGGGCAGGCACGGCGGGGAGCAGTCTCGAAGGAGGCTGGCGCCAGGCCAAGCGCCGGGCCTTGACGGCTGGAACCGTGGAGTAAAGTCTTTGGGCTGCGCATGCGCGATGCTTCGCCCTGCCCCACCTCTCGGTCGCGGATTGGCGGGCGCGGGTCACGTGGGCACGCCACCCGCTTCCTCGCCGCAGGGGGCCCGCCCGCTGGCCCGTTTCCGGTCCGGTGGGTACAAGATGACGGAGCCGGGCGCCTCTCCCGAGGACCCTTGGGTCAAGGCAAGCCCCGTGGGCGCGCACGCCGGCGAGGGGAGGGCGGGTCGGGCTCGTGCACGTAGGGGGGCCGGAAGACGAGGGGCTTCCCTCCTGTCCCCAAAGTCCCCCACGCTCTCCGTGCCCCGGGGCTGCAGAGAAGACAGCTCTCACCCCGCGTGTGCCAAGGTGGGGAGACAAACGAGGCGTGTGCGCGCGAGTCGGGGGAACGGGGCACTGGGGTGGAGTAGGGGCGGAAGGGATCATACACAGGGGAGGCACTCGCACGCCCTAGCCTGTGCCAGTCTCGGGGGACTCATTAAGCTGCCCGCGCACCCCGGGCTGTGTGTGTGCAAGCGCGCAGGGTGACAGAGGCGCCTTCCCGGAATGGGGGGCGCGCTGTGCGTGCCTGCAGTGGAAGGGGCGCCTCCCCCTAGGGGCGGAGGTCTGACGGGCCCTTCCCGTGCTCTGTGCCGCAGGTGGAGTATGCCTACAGCGACAACAGCCTGGACCCCGGTGAGTAGCTGCCCCATCTTAAGCTCTAGAGGGACACTCCCGCCCAGGCTCTCTAGATTC
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AGCTGCAGGTAGCAGTGCCACAGACAGGAGGAGGAAACTCAAGCATGGCATGGGTCTTGGAATTTTCCATCTGCCTCTGATGCCCTCTGGCACTGCTCGTTCTCTGGAGTGGTTTCCTGGTGGCTTATTCTCTGGACACATGCCAGCCCTTGGAGTGACTATTGTGCTTGCCTGTTTCTTCACCTTCATGCTCCCCTCACCATCACCATAGGCCTTACCAGTTGAACCCTTTCTGCCACCCCCTCTGGGGATACTGTACTTAGGGACACTTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGTTCTTCTGGGCTCCTTCCCCAGGCAAGTTGCTCCCTGAGCTGCTCCAACCTTATACAGAACGTGTGGAACATCTGAGTGAATTCCTGGTGGACATCAAGCCCTCCTTGACTTTTGATGTCATCCCCCTGCTGGACCCCTATGGGCCCGCTGGCTCTGACCCCTCCCTGGAGTTCCTGGTGGTCAGCGAGGAGACCTATCGTGGGGGGATGGCCATCAACCGCTTCCGCCTTGAGAATGTAACCCCTGAGGGAGACTGGCAGAGGGAGTGGATGGGGGACGGGGAAGGCCATTTTGAGGGGGCTGTTGGAAGTACCATGGCCCCAGAGGAGAGAAGTGGGGGCTCAGGGTGGTGGGAAGAAGCAAGGAGGAACTGGTTCTCAGTTTGCCCGCTGAGTCGGAGGAGGAGGAGCCTGGGTAGGAAGGGGAGGATGGGGGGGCAGGTTGGATGTCAGGGTCTTCCTCTCACTCCCTCCTTCCCTCTTTTTACCCTTTCCTCTTTACCCCAGGACCTGGAGGAACTTGCTTTGTACCAGATCCAGCTGCTGAAGGACCTCAGACATACAGAGAATGAAGAGGACAAAGTCAGCTCCTCCAGCTTCCGCCAGCGAATGTTGGGGAACCTGCTTCGGCCTCCATATGTAAGCTCCTCTCCCTCCTTCCCTCCTGCTTGGTGTCCTGGCAATGCTGGAGAGTAGAAGCTGAGGGGCTCAGCCCCAGGCATGAGGCTGAGGGCCCCAGTAACTGTGGGTTCCCTTTCACCTATCCCCAGGAAAGGCCAGAGCTCCCCACATGTCTCTATGTAATTGGGCTGACTGGCATCAGTGGCTCTGGGAAGAGCTCAATAGCTCAGCGACTGAAGGGCCTGGGGGCGTTTGTCATTGACAGTGACCACCTGGGTCATCGGGCCTATGCCCCAGGTGGCCCTGCCTACCAGCCTGTGGTGGAGGCCTTTGGAACAGGTAATAACTGGGGAAGGCTGAAAGTGGCCTGGAGTGAGGAGCTAGCCAGGCCTCTGTGCTCAGTTGTCTGTCTGTGTTGTCCAGATATTCTCCATAAAGATGGCATCATCAACAGGAAGGTCCTAGGCAGCCGGGTGTTTGGGAATAAGGTAAACAATAACTTCCTAAGGGCTCCTAAGCCGCTACTAGACCCAGGGGTCAGGGTCCAGTGGACCTCTCTGGTCTGGCCCAGAATGCCATTTCCATTGATCTGTTCCCAACACCACCTTGCTCGGGCTGGCTGCCTCTTCTAGAGAAGGTAACCTCTGCCCTCTGTTCCCCTCCCCAGAAGCAGCTGAAGATACTCACGGACATTATGTGGCCAATTATCGCAAAGCTGGCCCGAGAGGAGATGGATCGGGCTGTGGCTGAGGGTGAGTGGGAGGGAGGATGGCAACAGCTAAGGGGACAGTTAAGCTGTTTCTTCCCCTGGGAGCTTCCCTGCCCAACGTGGGACTGTCTGTTCACCCTGGGACTGTGTTCTGCCTGGGAGAACGTCGGCACTGCTGGCGGTGACTGGGGTCTCCCCACAGGAAAGCGTGTGTGTGTGATTGATGCCGCTGTGTTGCTTGAAGCCGGCTGGCAGAACCTGGTCCATGAGGTGTGGACTGCTGTCATCCCAGAGACTGAGGTATCTCGCCCCACCCCCCACACCATCCCTACTGCAGATCCTATCCTGTGAGCTGGAATTCTTCCTGACAAATGTCTCGTCTGTGCTCAGGCTGTAAGATGCATTGTGGAGAGGGATGGCCTCAGTGAAGCCGCGGCTCAAAGCCGGCTGCAGAGCCAGATGAGCGGGCAGCAGCTTGTGGAACAGAGCCACGTGGTGCTCAGCACCTTGTGGGAGCCGCATATCACCCAACGCCAGGTTGGTGCCCAGGGCAAGGCCGGGTTGTGGGGAAGGAGTCTCCAGTGGGTACTGCCTGACCCTGCCCTCTCTTCCTCCCAACATCCTGGCCTGTCTGAAGGTGGAGAAAGCCTGGGCCCTCTTGCAGAAGCGCATTCCCAAGACTCATCAGGCCCTCGACTGAAAAGTTCTCAGTGGGGCCAGACTGGCTCCTGGAGCTGACAAGCGACCCCGTGGTGAGGAGAAATGGGGGCCTTGATGCTCACCCTGGTTCAGGCCCAGAGGTCCAAGCTATACTGTGCAGGACATGGCCAGGCCTGGTGGACACAGGAAGCCTACCCAACACGCTGGTATTTGGCCAACACTGAGGATGTGGTTCATGGGGGAGCAGTCCCCTCCCCACTCTTGCCCATGGGTGACTCTTACCCACAGCTGACTAGGGCCAGCGCAAATACTGGAACCTGTAACAGAATTAAAGGTGAATGTTCTGAGATGTTGCTTGTATGGTGTCTGCTTCCTGTTCCAATGCCCCTAAGTATCTTTGGGATCCTTAAGCCACAAGTGCAGGGCCCAGGCCTGAGCTGGAAGCCTGGGCAATGCAGTGGTTAAGAGAATGGCCTTTGAGGCTAGCCAGAGGCGAGCTTTGGCCCTCCCACTGACCAGCTGTGTTCTTCTGAGTAAGGTGTAGACTTTCTAGGTACTGCCGTGTTTTATTGTTTTTGTTTTGTTTTTAATATGAGAGGCCGCATAACCTAGCTAGCAGGTTCTTTGCAAGGGTTCATTCCACATGCATCCTGCCAGACACTGGGCTGGGTGTTGGAAGATCAGCCTTCCGCGCGCCAGGCGGGGCCTCTGCCCTCACAGAGCTTGCAGCCTGGTGGGGTCGGACGATGTGGCTGGGGGCTTCTCTGCCCGGTTCCTGACACACCGGCCAGCAGTGCAGGTCCGGTGAGCGCGGGGAGGCCGCCCTCAGGGTAACGTGGGGAGCCGGCCGGCCGGACAGTGCGCGTGCACACACTATCTGCGGCGGTGTGCTGACAAGCCAATTGAGGGGACTCCATCTTACAAAACGCGCTTCATGTCGCCGCCATTCCACTGCCTAACCCGGGGAGGGCAGGCACGGCGGGGAGCAGTCTCGAAGGAGGCTGGCGCCAGGCCAAGCGCCGGGCCTTGACGGCTGGAACCGTGGAGTAAAGTCTTTGGGCTGCGCATGCGCGATGCTTCGCCCTGCCCCACCTCTCGGTCGCGGATTGGCGGGCGCGGGTCACGTGGGCACGCCACCCGCTTCCTCGCCGCAGGGGGCCCGCCCGCTGGCCCGTTTCCGGTCCGGTGGGTACAAGATGACGGAGCCGGGCGCCTCTCCCGAGGACCCTTGGGTCAAGGCAAGCCCCGTGGGCGCGCACGCCGGCGAGGGGAGGGCGGGTCGGGCTCGTGCACGTAGGGGGGCCGGAAGACGAGGGGCTTCCCTCCTGTCCCCAAAGTCCCCCACGCTCTCCGTGCCCCGGGGCTGCAGAGAAGACAGCTCTCACCCCGCGTGTGCCAAGGTGGGGAGACAAACGAGGCGTGTGCGCGCGAGTCGGGGGAACGGGGCACTGGGGTGGAGTAGGGGCGGAAGGGATCATACACAGGGGAGGCACTCGCACGCCCTAGCCTGTGCCAGTCTCGGGGGACTCATTAAGCTGCCCGCGCACCCCGGGCTGTGTGTGTGCAAGCGCGCAGGGTGACAGAGGCGCCTTCCCGGAATGGGGGGCGCGCTGTGCGTGCCTGCAGTGGAAGGGGCGCCTCCCCCTAGGGGCGGAGGTCTGACGGGCCCTTCCCGTGCTCTGTGCCGCAGGTGGAGTATGCCTACAGCGACAACAGCCTGGACCCCGGTGAGTAGCTGCCCCATCTTAAGCTCTAGAGGGACACTCCCGCCCAGGCTCTCTAGATTC
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Task1_train_24492
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A variant affecting Chromosome 17, within the gene COASY (Coenzyme A synthase), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Neurodegeneration with brain iron accumulation 6
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TTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGTTCTTCTGGGCTCCTTCCCCAGGCAAGTTGCTCCCTGAGCTGCTCCAACCTTATACAGAACGTGTGGAACATCTGAGTGAATTCCTGGTGGACATCAAGCCCTCCTTGACTTTTGATGTCATCCCCCTGCTGGACCCCTATGGGCCCGCTGGCTCTGACCCCTCCCTGGAGTTCCTGGTGGTCAGCGAGGAGACCTATCGTGGGGGGATGGCCATCAACCGCTTCCGCCTTGAGAATGTAACCCCTGAGGGAGACTGGCAGAGGGAGTGGATGGGGGACGGGGAAGGCCATTTTGAGGGGGCTGTTGGAAGTACCATGGCCCCAGAGGAGAGAAGTGGGGGCTCAGGGTGGTGGGAAGAAGCAAGGAGGAACTGGTTCTCAGTTTGCCCGCTGAGTCGGAGGAGGAGGAGCCTGGGTAGGAAGGGGAGGATGGGGGGGCAGGTTGGATGTCAGGGTCTTCCTCTCACTCCCTCCTTCCCTCTTTTTACCCTTTCCTCTTTACCCCAGGACCTGGAGGAACTTGCTTTGTACCAGATCCAGCTGCTGAAGGACCTCAGACATACAGAGAATGAAGAGGACAAAGTCAGCTCCTCCAGCTTCCGCCAGCGAATGTTGGGGAACCTGCTTCGGCCTCCATATGTAAGCTCCTCTCCCTCCTTCCCTCCTGCTTGGTGTCCTGGCAATGCTGGAGAGTAGAAGCTGAGGGGCTCAGCCCCAGGCATGAGGCTGAGGGCCCCAGTAACTGTGGGTTCCCTTTCACCTATCCCCAGGAAAGGCCAGAGCTCCCCACATGTCTCTATGTAATTGGGCTGACTGGCATCAGTGGCTCTGGGAAGAGCTCAATAGCTCAGCGACTGAAGGGCCTGGGGGCGTTTGTCATTGACAGTGACCACCTGGGTCATCGGGCCTATGCCCCAGGTGGCCCTGCCTACCAGCCTGTGGTGGAGGCCTTTGGAACAGGTAATAACTGGGGAAGGCTGAAAGTGGCCTGGAGTGAGGAGCTAGCCAGGCCTCTGTGCTCAGTTGTCTGTCTGTGTTGTCCAGATATTCTCCATAAAGATGGCATCATCAACAGGAAGGTCCTAGGCAGCCGGGTGTTTGGGAATAAGGTAAACAATAACTTCCTAAGGGCTCCTAAGCCGCTACTAGACCCAGGGGTCAGGGTCCAGTGGACCTCTCTGGTCTGGCCCAGAATGCCATTTCCATTGATCTGTTCCCAACACCACCTTGCTCGGGCTGGCTGCCTCTTCTAGAGAAGGTAACCTCTGCCCTCTGTTCCCCTCCCCAGAAGCAGCTGAAGATACTCACGGACATTATGTGGCCAATTATCGCAAAGCTGGCCCGAGAGGAGATGGATCGGGCTGTGGCTGAGGGTGAGTGGGAGGGAGGATGGCAACAGCTAAGGGGACAGTTAAGCTGTTTCTTCCCCTGGGAGCTTCCCTGCCCAACGTGGGACTGTCTGTTCACCCTGGGACTGTGTTCTGCCTGGGAGAACGTCGGCACTGCTGGCGGTGACTGGGGTCTCCCCACAGGAAAGCGTGTGTGTGTGATTGATGCCGCTGTGTTGCTTGAAGCCGGCTGGCAGAACCTGGTCCATGAGGTGTGGACTGCTGTCATCCCAGAGACTGAGGTATCTCGCCCCACCCCCCACACCATCCCTACTGCAGATCCTATCCTGTGAGCTGGAATTCTTCCTGACAAATGTCTCGTCTGTGCTCAGGCTGTAAGACGCATTGTGGAGAGGGATGGCCTCAGTGAAGCCGCGGCTCAAAGCCGGCTGCAGAGCCAGATGAGCGGGCAGCAGCTTGTGGAACAGAGCCACGTGGTGCTCAGCACCTTGTGGGAGCCGCATATCACCCAACGCCAGGTTGGTGCCCAGGGCAAGGCCGGGTTGTGGGGAAGGAGTCTCCAGTGGGTACTGCCTGACCCTGCCCTCTCTTCCTCCCAACATCCTGGCCTGTCTGAAGGTGGAGAAAGCCTGGGCCCTCTTGCAGAAGCGCATTCCCAAGACTCATCAGGCCCTCGACTGAAAAGTTCTCAGTGGGGCCAGACTGGCTCCTGGAGCTGACAAGCGACCCCGTGGTGAGGAGAAATGGGGGCCTTGATGCTCACCCTGGTTCAGGCCCAGAGGTCCAAGCTATACTGTGCAGGACATGGCCAGGCCTGGTGGACACAGGAAGCCTACCCAACACGCTGGTATTTGGCCAACACTGAGGATGTGGTTCATGGGGGAGCAGTCCCCTCCCCACTCTTGCCCATGGGTGACTCTTACCCACAGCTGACTAGGGCCAGCGCAAATACTGGAACCTGTAACAGAATTAAAGGTGAATGTTCTGAGATGTTGCTTGTATGGTGTCTGCTTCCTGTTCCAATGCCCCTAAGTATCTTTGGGATCCTTAAGCCACAAGTGCAGGGCCCAGGCCTGAGCTGGAAGCCTGGGCAATGCAGTGGTTAAGAGAATGGCCTTTGAGGCTAGCCAGAGGCGAGCTTTGGCCCTCCCACTGACCAGCTGTGTTCTTCTGAGTAAGGTGTAGACTTTCTAGGTACTGCCGTGTTTTATTGTTTTTGTTTTGTTTTTAATATGAGAGGCCGCATAACCTAGCTAGCAGGTTCTTTGCAAGGGTTCATTCCACATGCATCCTGCCAGACACTGGGCTGGGTGTTGGAAGATCAGCCTTCCGCGCGCCAGGCGGGGCCTCTGCCCTCACAGAGCTTGCAGCCTGGTGGGGTCGGACGATGTGGCTGGGGGCTTCTCTGCCCGGTTCCTGACACACCGGCCAGCAGTGCAGGTCCGGTGAGCGCGGGGAGGCCGCCCTCAGGGTAACGTGGGGAGCCGGCCGGCCGGACAGTGCGCGTGCACACACTATCTGCGGCGGTGTGCTGACAAGCCAATTGAGGGGACTCCATCTTACAAAACGCGCTTCATGTCGCCGCCATTCCACTGCCTAACCCGGGGAGGGCAGGCACGGCGGGGAGCAGTCTCGAAGGAGGCTGGCGCCAGGCCAAGCGCCGGGCCTTGACGGCTGGAACCGTGGAGTAAAGTCTTTGGGCTGCGCATGCGCGATGCTTCGCCCTGCCCCACCTCTCGGTCGCGGATTGGCGGGCGCGGGTCACGTGGGCACGCCACCCGCTTCCTCGCCGCAGGGGGCCCGCCCGCTGGCCCGTTTCCGGTCCGGTGGGTACAAGATGACGGAGCCGGGCGCCTCTCCCGAGGACCCTTGGGTCAAGGCAAGCCCCGTGGGCGCGCACGCCGGCGAGGGGAGGGCGGGTCGGGCTCGTGCACGTAGGGGGGCCGGAAGACGAGGGGCTTCCCTCCTGTCCCCAAAGTCCCCCACGCTCTCCGTGCCCCGGGGCTGCAGAGAAGACAGCTCTCACCCCGCGTGTGCCAAGGTGGGGAGACAAACGAGGCGTGTGCGCGCGAGTCGGGGGAACGGGGCACTGGGGTGGAGTAGGGGCGGAAGGGATCATACACAGGGGAGGCACTCGCACGCCCTAGCCTGTGCCAGTCTCGGGGGACTCATTAAGCTGCCCGCGCACCCCGGGCTGTGTGTGTGCAAGCGCGCAGGGTGACAGAGGCGCCTTCCCGGAATGGGGGGCGCGCTGTGCGTGCCTGCAGTGGAAGGGGCGCCTCCCCCTAGGGGCGGAGGTCTGACGGGCCCTTCCCGTGCTCTGTGCCGCAGGTGGAGTATGCCTACAGCGACAACAGCCTGGACCCCGGTGAGTAGCTGCCCCATCTTAAGCTCTAGAGGGACACTCCCGCCCAGGCTCTCTAGATTCTTGTGGCGTTGCCAACCACGCCTGAGCACAGTCCACTCTCCCTGAGCAGAGTTCCTGGCTTGAGACAGCAGGAGCTGAAGGACAAGGGCAGAAAACAACTGAGGGTGACACCTAGTTCCCTCTGCTCTGGAACAGGGAAGTGGTGGAACTGATCACTCACCACTCAGTGGAGCAGCTGATCACTCACACCCTCATCACGTCCACATGCCCGTTTGTGAGCCAGGGGGGTATCATGCAGGCCTATGGAGCAGTGTAGACACTAGGGAGCA
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TTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGTTCTTCTGGGCTCCTTCCCCAGGCAAGTTGCTCCCTGAGCTGCTCCAACCTTATACAGAACGTGTGGAACATCTGAGTGAATTCCTGGTGGACATCAAGCCCTCCTTGACTTTTGATGTCATCCCCCTGCTGGACCCCTATGGGCCCGCTGGCTCTGACCCCTCCCTGGAGTTCCTGGTGGTCAGCGAGGAGACCTATCGTGGGGGGATGGCCATCAACCGCTTCCGCCTTGAGAATGTAACCCCTGAGGGAGACTGGCAGAGGGAGTGGATGGGGGACGGGGAAGGCCATTTTGAGGGGGCTGTTGGAAGTACCATGGCCCCAGAGGAGAGAAGTGGGGGCTCAGGGTGGTGGGAAGAAGCAAGGAGGAACTGGTTCTCAGTTTGCCCGCTGAGTCGGAGGAGGAGGAGCCTGGGTAGGAAGGGGAGGATGGGGGGGCAGGTTGGATGTCAGGGTCTTCCTCTCACTCCCTCCTTCCCTCTTTTTACCCTTTCCTCTTTACCCCAGGACCTGGAGGAACTTGCTTTGTACCAGATCCAGCTGCTGAAGGACCTCAGACATACAGAGAATGAAGAGGACAAAGTCAGCTCCTCCAGCTTCCGCCAGCGAATGTTGGGGAACCTGCTTCGGCCTCCATATGTAAGCTCCTCTCCCTCCTTCCCTCCTGCTTGGTGTCCTGGCAATGCTGGAGAGTAGAAGCTGAGGGGCTCAGCCCCAGGCATGAGGCTGAGGGCCCCAGTAACTGTGGGTTCCCTTTCACCTATCCCCAGGAAAGGCCAGAGCTCCCCACATGTCTCTATGTAATTGGGCTGACTGGCATCAGTGGCTCTGGGAAGAGCTCAATAGCTCAGCGACTGAAGGGCCTGGGGGCGTTTGTCATTGACAGTGACCACCTGGGTCATCGGGCCTATGCCCCAGGTGGCCCTGCCTACCAGCCTGTGGTGGAGGCCTTTGGAACAGGTAATAACTGGGGAAGGCTGAAAGTGGCCTGGAGTGAGGAGCTAGCCAGGCCTCTGTGCTCAGTTGTCTGTCTGTGTTGTCCAGATATTCTCCATAAAGATGGCATCATCAACAGGAAGGTCCTAGGCAGCCGGGTGTTTGGGAATAAGGTAAACAATAACTTCCTAAGGGCTCCTAAGCCGCTACTAGACCCAGGGGTCAGGGTCCAGTGGACCTCTCTGGTCTGGCCCAGAATGCCATTTCCATTGATCTGTTCCCAACACCACCTTGCTCGGGCTGGCTGCCTCTTCTAGAGAAGGTAACCTCTGCCCTCTGTTCCCCTCCCCAGAAGCAGCTGAAGATACTCACGGACATTATGTGGCCAATTATCGCAAAGCTGGCCCGAGAGGAGATGGATCGGGCTGTGGCTGAGGGTGAGTGGGAGGGAGGATGGCAACAGCTAAGGGGACAGTTAAGCTGTTTCTTCCCCTGGGAGCTTCCCTGCCCAACGTGGGACTGTCTGTTCACCCTGGGACTGTGTTCTGCCTGGGAGAACGTCGGCACTGCTGGCGGTGACTGGGGTCTCCCCACAGGAAAGCGTGTGTGTGTGATTGATGCCGCTGTGTTGCTTGAAGCCGGCTGGCAGAACCTGGTCCATGAGGTGTGGACTGCTGTCATCCCAGAGACTGAGGTATCTCGCCCCACCCCCCACACCATCCCTACTGCAGATCCTATCCTGTGAGCTGGAATTCTTCCTGACAAATGTCTCGTCTGTGCTCAGGCTGTAAGACGCATTGTGGAGAGGGATGGCCTCAGTGAAGCCGCGGCTCAAAGCCGGCTGCAGAGCCAGATGAGCGGGCAGCAGCTTGTGGAACAGAGCCACGTGGTGCTCAGCACCTTGTGGGAGCCGCATATCACCCAACGCCAGGTTGGTGCCCAGGGCAAGGCCGGGTTGTGGGGAAGGAGTCTCCAGTGGGTACTGCCTGACCCTGCCCTCTCTTCCTCCCAACATCCTGGCCTGTCTGAAGGTGGAGAAAGCCTGGGCCCTCTTGCAGAAGCACATTCCCAAGACTCATCAGGCCCTCGACTGAAAAGTTCTCAGTGGGGCCAGACTGGCTCCTGGAGCTGACAAGCGACCCCGTGGTGAGGAGAAATGGGGGCCTTGATGCTCACCCTGGTTCAGGCCCAGAGGTCCAAGCTATACTGTGCAGGACATGGCCAGGCCTGGTGGACACAGGAAGCCTACCCAACACGCTGGTATTTGGCCAACACTGAGGATGTGGTTCATGGGGGAGCAGTCCCCTCCCCACTCTTGCCCATGGGTGACTCTTACCCACAGCTGACTAGGGCCAGCGCAAATACTGGAACCTGTAACAGAATTAAAGGTGAATGTTCTGAGATGTTGCTTGTATGGTGTCTGCTTCCTGTTCCAATGCCCCTAAGTATCTTTGGGATCCTTAAGCCACAAGTGCAGGGCCCAGGCCTGAGCTGGAAGCCTGGGCAATGCAGTGGTTAAGAGAATGGCCTTTGAGGCTAGCCAGAGGCGAGCTTTGGCCCTCCCACTGACCAGCTGTGTTCTTCTGAGTAAGGTGTAGACTTTCTAGGTACTGCCGTGTTTTATTGTTTTTGTTTTGTTTTTAATATGAGAGGCCGCATAACCTAGCTAGCAGGTTCTTTGCAAGGGTTCATTCCACATGCATCCTGCCAGACACTGGGCTGGGTGTTGGAAGATCAGCCTTCCGCGCGCCAGGCGGGGCCTCTGCCCTCACAGAGCTTGCAGCCTGGTGGGGTCGGACGATGTGGCTGGGGGCTTCTCTGCCCGGTTCCTGACACACCGGCCAGCAGTGCAGGTCCGGTGAGCGCGGGGAGGCCGCCCTCAGGGTAACGTGGGGAGCCGGCCGGCCGGACAGTGCGCGTGCACACACTATCTGCGGCGGTGTGCTGACAAGCCAATTGAGGGGACTCCATCTTACAAAACGCGCTTCATGTCGCCGCCATTCCACTGCCTAACCCGGGGAGGGCAGGCACGGCGGGGAGCAGTCTCGAAGGAGGCTGGCGCCAGGCCAAGCGCCGGGCCTTGACGGCTGGAACCGTGGAGTAAAGTCTTTGGGCTGCGCATGCGCGATGCTTCGCCCTGCCCCACCTCTCGGTCGCGGATTGGCGGGCGCGGGTCACGTGGGCACGCCACCCGCTTCCTCGCCGCAGGGGGCCCGCCCGCTGGCCCGTTTCCGGTCCGGTGGGTACAAGATGACGGAGCCGGGCGCCTCTCCCGAGGACCCTTGGGTCAAGGCAAGCCCCGTGGGCGCGCACGCCGGCGAGGGGAGGGCGGGTCGGGCTCGTGCACGTAGGGGGGCCGGAAGACGAGGGGCTTCCCTCCTGTCCCCAAAGTCCCCCACGCTCTCCGTGCCCCGGGGCTGCAGAGAAGACAGCTCTCACCCCGCGTGTGCCAAGGTGGGGAGACAAACGAGGCGTGTGCGCGCGAGTCGGGGGAACGGGGCACTGGGGTGGAGTAGGGGCGGAAGGGATCATACACAGGGGAGGCACTCGCACGCCCTAGCCTGTGCCAGTCTCGGGGGACTCATTAAGCTGCCCGCGCACCCCGGGCTGTGTGTGTGCAAGCGCGCAGGGTGACAGAGGCGCCTTCCCGGAATGGGGGGCGCGCTGTGCGTGCCTGCAGTGGAAGGGGCGCCTCCCCCTAGGGGCGGAGGTCTGACGGGCCCTTCCCGTGCTCTGTGCCGCAGGTGGAGTATGCCTACAGCGACAACAGCCTGGACCCCGGTGAGTAGCTGCCCCATCTTAAGCTCTAGAGGGACACTCCCGCCCAGGCTCTCTAGATTCTTGTGGCGTTGCCAACCACGCCTGAGCACAGTCCACTCTCCCTGAGCAGAGTTCCTGGCTTGAGACAGCAGGAGCTGAAGGACAAGGGCAGAAAACAACTGAGGGTGACACCTAGTTCCCTCTGCTCTGGAACAGGGAAGTGGTGGAACTGATCACTCACCACTCAGTGGAGCAGCTGATCACTCACACCCTCATCACGTCCACATGCCCGTTTGTGAGCCAGGGGGGTATCATGCAGGCCTATGGAGCAGTGTAGACACTAGGGAGCA
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Task1_train_24493
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This gene mutation involves TUBG1 (tubulin gamma 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Complex cortical dysplasia with other brain malformations 4
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TAATCTCCGTCATCATTTCCTAACTGTTCTTTAAAAGCTTGTAATTTTCTTTCAATTTTCAGCTTTGGGGGCTCACACTGACGCTTAGACTTCATAAACTTCCTTCCTAGATATATAACATGCTAATTCATGCGAATCGCTCAAGCTTGTTTTATAATCACACCTATGGATACCTTTGCAAGACTTCACGCCTCTACTCCAACAATAAACTACTAAAACCTCTGGAAACAATCTAGAACTTGCACTTGAGCAGACAAGAGAAAGGAAGTGATGGCTTTAAAGGGACGCAGCTTTGTCGGGCTCAAAAGAGGAGCCCTCGCTCACTCTTGAGCGGCTCAAGATGTTACCAGAAGCTCCCGCCAGATGTGCGGGGCGGGGGTGCGGGCACAGGTAAGGCAGAGAAGATGGGTGGACGGCCCTGGGAAGAACTAGGGTGCCGAAGCCTGCAGGCGGGATGGAGTGGAAGGAGGTGAGGCAAAATTAGGCAAGTACAGGAAGGAGCCAGTGCAGCGAAGAAAACAGGGCAGGCGAGAAGTAGAGCCCTAGAGGAACCAACGAATTCGGGACTCGGAGGGTTTCCGAGGGTCCAGTTCTCTCACCAGAAAGCCGCGTTCAGCCCCAGGCACCACAGAGCGCTCCTAGCTGGCCGCTCCCACACCAGGGCTGCCTGCACCCGACTCAGCAGAGGCTCGTAAGGCCCCAGCACCTCCACCAGGGCCCGCTGCGCCGCCTCAACCTGCTGGTCCCGCTCCCAGGAGCCTGACACATCTCGGCGGCCCCTGAAAGTCGACCCCGAAGCCGGGCCTGGGGTCGTGGGAACCCCTTCGGCCTCAGCCATCTCCCCGCGGCAGCCACAACATCCGGGGCCGTGGCCCGACAAGTCACAATAACAGCAACTGCGCAGATGCGCGATTCGGCGGGGGAGGTGGCTTCGCACCACAGCGCGCTTGCGCGCAGGCCCAAGCAGGCGCCCACCCAGAGGGGAGGGAGGACGCCGTACCCCGCCCTCACTGAGGCGCGGAGCCGGATCCGGAGGCGCCGAGCCGCATCCGGAGCCGCGCACGCGCAATCTGCATGAACGAAGGCCAGTGCTTAAAGACGTGCCATTCATTGCCAGAACTCGATTCTCATTGGAGCGGAGGAAGTTCGTGGGTGGAGCTGGTTGTTTGGCGCCTGCGTCTTGCGGCGAGCGGGCTGGCGTGCGGCGCCGTTGCGGGCGGGAGCGGCTGCAACGCCGGTGCCTGAGGAGCGATGCCGAGGGAAATCATCACCCTACAGTTGGGCCAGTGCGGCAATCAGAGTGAGCGAAACTCCGGCCCCTCAGCTAGCCAGGTTCCTTAGGGTCAATGGGATCTCGCTGTGGGATCCTGGACTCCATCTGTCCTTGCCAGAATCGTAGTTCTCTGAAAGGCGAGACATCCCTGACCCAGTGTCCACTTGCCCAACCCCGAGGGGCCCTCCCCTGCCCAGTCCCTGGCGTACAGTCCTTTCCTCAGACACGGGAGAGTCCTGCGGCTTGACTTCTTATCCCTGGACGCAGGCGCCCAGTCCCCCGGCTCCTGATTGGAACCTGCCCGGACCTAGATATCTTCTTTCTCCCCTGCCCGCCCCTTCCCCCCAGTTGGGTTCGAGTTCTGGAAACAGCTGTGCGCCGAGCATGGTATCAGCCCCGAGGGCATCGTGGAGGAGTTCGCCACCGAGGGCACTGACCGCAAGGACGTCTTTTTCTACCAGGTGCCCCCAGCGACTTGGCCGGGGGCGGCAGTTGCCCAAGGGGGCGGAAGGGAAGGGAGTGGCCTGGTACTGGGAACCCCGCTGGGCAGTAGGGCCAGGCGGCTGGCTTGAGGAGGGAGGGCCGGAGGGAGCCAGAGTTGGGAGGACTTCGGACTTGGGCCGCCCTAGCTGATTGGGCCCCCTCCTGGACTCCCCTTGACAGGCAGACGATGAGCACTACATCCCCCGGGCCGTGCTGCTGGACTTGGAACCCCGGGTGATCCACTCCATCCTCAACTCCCCCTATGCCAAGCTCTACAACCCAGAGAACATCTACCTGTCGGAACATGGAGGAGGAGCTGGCAACAACTGGGCCAGCGGATTCTCCCAGGTCGTTTCCTATTCCCTGGCAGGGCCCACAACTCGCTGGGTAGGGACAGGCTCTATGACGTCCCGAAGAGAGGGAAAACCGGATCAGGGATGTATGAATGCTGGAGGGAGAGACCTGGCTGCAGGGAGTGGACTATGTAATATTGTCAAGCGCCTACACTAGCTAATGCAGTGTGCCAGGTCATTCTAAGTGCTTTACATATATTAATTTTTCTAAATCTCCCAACAACCCTAGAAGTAAGTACTACAGGTCCACAGTCCCTTATCTGCCTTTCCAGGATCCAGAAAGCCATGAAACCAAAGGACATTTCATAACTAGTTTATCAGCAAAAACAAATTTCAATGAAGACAGGCTGTTTTATAGTTTCTTTTTTTTAATTTTTATTTATTTATTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGCTCTCAGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTTGCCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAACCGCCATGCCCGGCCCTATAGTTTCTATCCAACTTACTGTCATTAGTGATGCCTTTTATTACAGAAATACTAATATATTTGATTAACGTGCTTCTGATTAAATAAAAATTCCCACTGGAATTTTATTTAATATATAGTATATATACCATAATACCTTTCTAAAATCTGAAATATTTTGAATTCCAAAACATAACTGGCCCCAACACTGTTAGATAAGGGTATATGGACCTGTATTATTACCTTCATTGTACAGATGAGGAAACTGAGGCATAGAGCAATTAAATAAGCTGCCCAGAGCTACATAGAAGTAGAGTTAATGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACTCTGATTCTACTAAAAATACAAAAAATAGCTGGGCATGGTGGCATGCGCCTATAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGACGGAGGTTGCCATGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGAGAAAGAGAGAGACTCCATCGCAAAAAAAAATAGAGCTAATGTATGAACCCAGGTAGTCTGGGTGTAGAGTGCTTTCTTGTAACCACTGCACCGTACTGCCTCTCAATGTAGATAAAAGCAGGTAGCTATGCTCCATAAAAGGACTTCTGGGTGTTATAAGGAGAATTGAGGGTGGCTTTTCTGAGGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCTTGGCAGCACCCTCTAGAAGCGACCTGTTAGGAACAAGACCCACTCATGTACCCTTTGCACTGGACAGAAGCTATCAGGCCTTGCCAGAAACAAGGCAGTTGCCTAAGCTGTATAAGTGAGGGGACTGGATGGGAAGCAAGGGCTCGGGAAAATGGGAGTCCTAAAAAACTATGAGATGGGTCTAGTTTGACATCCTGCCACTAGATACCTGTACACTGACTGCCCCTTCCCCATGCAGGGCTTTGTGCTGTGTCACTCCATTGCTGGGGGGACAGGCTCTGGACTGGGTTCCTACCTCTTAGAACGGCTGAATGACAGGTAAGTTTGTGTTTGGGGATTAGGAAAGGTCTCCAACTTGGCTTCCTAAATGACTAGGGGACCCAGCAGATATAAC
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TAATCTCCGTCATCATTTCCTAACTGTTCTTTAAAAGCTTGTAATTTTCTTTCAATTTTCAGCTTTGGGGGCTCACACTGACGCTTAGACTTCATAAACTTCCTTCCTAGATATATAACATGCTAATTCATGCGAATCGCTCAAGCTTGTTTTATAATCACACCTATGGATACCTTTGCAAGACTTCACGCCTCTACTCCAACAATAAACTACTAAAACCTCTGGAAACAATCTAGAACTTGCACTTGAGCAGACAAGAGAAAGGAAGTGATGGCTTTAAAGGGACGCAGCTTTGTCGGGCTCAAAAGAGGAGCCCTCGCTCACTCTTGAGCGGCTCAAGATGTTACCAGAAGCTCCCGCCAGATGTGCGGGGCGGGGGTGCGGGCACAGGTAAGGCAGAGAAGATGGGTGGACGGCCCTGGGAAGAACTAGGGTGCCGAAGCCTGCAGGCGGGATGGAGTGGAAGGAGGTGAGGCAAAATTAGGCAAGTACAGGAAGGAGCCAGTGCAGCGAAGAAAACAGGGCAGGCGAGAAGTAGAGCCCTAGAGGAACCAACGAATTCGGGACTCGGAGGGTTTCCGAGGGTCCAGTTCTCTCACCAGAAAGCCGCGTTCAGCCCCAGGCACCACAGAGCGCTCCTAGCTGGCCGCTCCCACACCAGGGCTGCCTGCACCCGACTCAGCAGAGGCTCGTAAGGCCCCAGCACCTCCACCAGGGCCCGCTGCGCCGCCTCAACCTGCTGGTCCCGCTCCCAGGAGCCTGACACATCTCGGCGGCCCCTGAAAGTCGACCCCGAAGCCGGGCCTGGGGTCGTGGGAACCCCTTCGGCCTCAGCCATCTCCCCGCGGCAGCCACAACATCCGGGGCCGTGGCCCGACAAGTCACAATAACAGCAACTGCGCAGATGCGCGATTCGGCGGGGGAGGTGGCTTCGCACCACAGCGCGCTTGCGCGCAGGCCCAAGCAGGCGCCCACCCAGAGGGGAGGGAGGACGCCGTACCCCGCCCTCACTGAGGCGCGGAGCCGGATCCGGAGGCGCCGAGCCGCATCCGGAGCCGCGCACGCGCAATCTGCATGAACGAAGGCCAGTGCTTAAAGACGTGCCATTCATTGCCAGAACTCGATTCTCATTGGAGCGGAGGAAGTTCGTGGGTGGAGCTGGTTGTTTGGCGCCTGCGTCTTGCGGCGAGCGGGCTGGCGTGCGGCGCCGTTGCGGGCGGGAGCGGCTGCAACGCCGGTGCCTGAGGAGCGATGCCGAGGGAAATCATCACCCTACAGTTGGGCCAGTGCGGCAATCAGAGTGAGCGAAACTCCGGCCCCTCAGCTAGCCAGGTTCCTTAGGGTCAATGGGATCTCGCTGTGGGATCCTGGACTCCATCTGTCCTTGCCAGAATCGTAGTTCTCTGAAAGGCGAGACATCCCTGACCCAGTGTCCACTTGCCCAACCCCGAGGGGCCCTCCCCTGCCCAGTCCCTGGCGTACAGTCCTTTCCTCAGACACGGGAGAGTCCTGCGGCTTGACTTCTTATCCCTGGACGCAGGCGCCCAGTCCCCCGGCTCCTGATTGGAACCTGCCCGGACCTAGATATCTTCTTTCTCCCCTGCCCGCCCCTTCCCCCCAGTTGGGTTCGAGTTCTGGAAACAGCTGTGCGCCGAGCATGGTATCAGCCCCGAGGGCATCGTGGAGGAGTTCGCCACCGAGGGCACTGACCGCAAGGACGTCTTTTTCTACCAGGTGCCCCCAGCGACTTGGCCGGGGGCGGCAGTTGCCCAAGGGGGCGGAAGGGAAGGGAGTGGCCTGGTACTGGGAACCCCGCTGGGCAGTAGGGCCAGGCGGCTGGCTTGAGGAGGGAGGGCCGGAGGGAGCCAGAGTTGGGAGGACTTCGGACTTGGGCCGCCCTAGCTGATTGGGCCCCCTCCTGGACTCCCCTTGACAGGCAGACGATGAGCACTACATCCCCCGGGCCGTGCTGCTGGACTTGGAACCCCGGGTGATCCACTCCATCCTCAACTCCCCCTATGCCAAGCTCTACAACCCAGAGAACATCTGCCTGTCGGAACATGGAGGAGGAGCTGGCAACAACTGGGCCAGCGGATTCTCCCAGGTCGTTTCCTATTCCCTGGCAGGGCCCACAACTCGCTGGGTAGGGACAGGCTCTATGACGTCCCGAAGAGAGGGAAAACCGGATCAGGGATGTATGAATGCTGGAGGGAGAGACCTGGCTGCAGGGAGTGGACTATGTAATATTGTCAAGCGCCTACACTAGCTAATGCAGTGTGCCAGGTCATTCTAAGTGCTTTACATATATTAATTTTTCTAAATCTCCCAACAACCCTAGAAGTAAGTACTACAGGTCCACAGTCCCTTATCTGCCTTTCCAGGATCCAGAAAGCCATGAAACCAAAGGACATTTCATAACTAGTTTATCAGCAAAAACAAATTTCAATGAAGACAGGCTGTTTTATAGTTTCTTTTTTTTAATTTTTATTTATTTATTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGCTCTCAGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTTGCCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAACCGCCATGCCCGGCCCTATAGTTTCTATCCAACTTACTGTCATTAGTGATGCCTTTTATTACAGAAATACTAATATATTTGATTAACGTGCTTCTGATTAAATAAAAATTCCCACTGGAATTTTATTTAATATATAGTATATATACCATAATACCTTTCTAAAATCTGAAATATTTTGAATTCCAAAACATAACTGGCCCCAACACTGTTAGATAAGGGTATATGGACCTGTATTATTACCTTCATTGTACAGATGAGGAAACTGAGGCATAGAGCAATTAAATAAGCTGCCCAGAGCTACATAGAAGTAGAGTTAATGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACTCTGATTCTACTAAAAATACAAAAAATAGCTGGGCATGGTGGCATGCGCCTATAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGACGGAGGTTGCCATGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGAGAAAGAGAGAGACTCCATCGCAAAAAAAAATAGAGCTAATGTATGAACCCAGGTAGTCTGGGTGTAGAGTGCTTTCTTGTAACCACTGCACCGTACTGCCTCTCAATGTAGATAAAAGCAGGTAGCTATGCTCCATAAAAGGACTTCTGGGTGTTATAAGGAGAATTGAGGGTGGCTTTTCTGAGGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCTTGGCAGCACCCTCTAGAAGCGACCTGTTAGGAACAAGACCCACTCATGTACCCTTTGCACTGGACAGAAGCTATCAGGCCTTGCCAGAAACAAGGCAGTTGCCTAAGCTGTATAAGTGAGGGGACTGGATGGGAAGCAAGGGCTCGGGAAAATGGGAGTCCTAAAAAACTATGAGATGGGTCTAGTTTGACATCCTGCCACTAGATACCTGTACACTGACTGCCCCTTCCCCATGCAGGGCTTTGTGCTGTGTCACTCCATTGCTGGGGGGACAGGCTCTGGACTGGGTTCCTACCTCTTAGAACGGCTGAATGACAGGTAAGTTTGTGTTTGGGGATTAGGAAAGGTCTCCAACTTGGCTTCCTAAATGACTAGGGGACCCAGCAGATATAAC
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Task1_train_24494
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Given this context: Chromosome 17, gene TUBG1 (tubulin gamma 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Complex cortical dysplasia with other brain malformations 4
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ATGAGATGGGTCTAGTTTGACATCCTGCCACTAGATACCTGTACACTGACTGCCCCTTCCCCATGCAGGGCTTTGTGCTGTGTCACTCCATTGCTGGGGGGACAGGCTCTGGACTGGGTTCCTACCTCTTAGAACGGCTGAATGACAGGTAAGTTTGTGTTTGGGGATTAGGAAAGGTCTCCAACTTGGCTTCCTAAATGACTAGGGGACCCAGCAGATATAACTCCATATTTGCTGGAACAGGAAAGAGTTCTTATATTCCCTCCTATAGAGAGGAAAATGAAGTTACAATGACTGAGAACCCCATCACACTCCCAGTAGTGGGAACTGGAGCCTAGAACCTGAGCCCTGGATGAAAGTCGAGGGAGTGTGGCCAGGTCTCAATTTGGAAGCCCAGAGTCTAAGATGTCTCTGCCCTTCCCCCTGTAGGGCTACAGACTTCCAAAAGTCAAGGCTCCCTTCTCTACTGATTTGACCCCACCCCAGTTTCGCCATCAAGATTTATCTGCTTCTGGACAGTTGTTAGGGAGCGCCATGTTCACCAGGCCTTCGGTCTGTTGCCCTGATCCTTTCCCCAACCCCCACCAGGTATCCTAAGAAGCTGGTGCAGACATACTCAGTGTTTCCCAACCAGGACGAGATGAGCGATGTGGTGGTCCAGCCTTACAATTCACTCCTCACACTCAAGAGGCTGACGCAGAATGCAGACTGTGTGGTGAGTCCTGGATTCTACCTCTCCCAACTCTCAACACCCCATACCCACTCGAGTCTATTAAATCATTTTCATGTATTTAAAAAAAATCCATTTTAGCCAGGTGCAGTGGCTCATGACTGTAATCCCATCACTTTGGGAGGCCAAGGTCGTTGGATCGTTTGAGTTTAGGAGTTCGAGACCAGCCTGGGCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCGGGAGTGGTGATATGTGCAGAAGGATCACTTGTGCCTCAGAGGCAGGGGCTGCAGTGAGCTGAGATCATGTCACTGACTGCACTCCAGCCGGGGTGACAAAGTGAAACCCTGTCTCAAAAAACAAGAACAAAAAAAAAAACTGTTTAAATAATTAAGATGAAAAGAAAAATTTAAAAATCCATTTTGAGCCCTCCTTTGCCCTAGGTCAGTGCAAATCTCTTTCCAGTGAGTCTTTCTGGCCATGAAGCTCAAAGGAAATTAAGCTTCAGAGCCTAGGGTCAGGCAGAGCTCCTGTTTTTCTTATCCCCATTGATCTGTGATCCTCTTCTGTCCCCCCAGGTGGTGCTGGACAACACAGCCCTGAACCGGATTGCCACAGACCGCCTGCACATCCAGAACCCATCCTTCTCCCAGATCAACCAGCTGGTGGGCCCCCACTCCTGGACTCCTTTGGACTTGAAGCCCTCCTTGTTGGAGGGTCATTTGGGGAAGGGAGGTCCCACCCAGGCTGAGGCCCATAACATGGCACGCCTGTCCCCAGGTGTCTACCATCATGTCAGCCAGCACCACCACCCTGCGCTACCCTGGCTACATGAACAATGACCTCATCGGCCTCATCGCCTCGCTCATTCCCACCCCACGGCTCCACTTCCTCATGACCGGCTACACCCCTCTCACTACGGACCAGTCAGTAAGAGCAGCCTTCAGTGTCCCAGGCCAGGCCGGCCCTGGGCCCAACAGGCCCTGTCCTAGCCTTTCTCTCTTCCCCACTGCCCCAGGAGCTACCCTTTGTGGACCCCAAGGCGCGGCGCTCAGGGACTGGCACAGAGTGGGCGACTTTCTTGCTGACTTGCTCTCCACCCTCCCTCTGCCTTTGGCTTCTGCCAAAGAGAAGCCAAAGGGGGACTGTGCCCTGAGCGCTGGCCGGGTCCCTGTCTCACTGTCCTATCAGGTGGCCAGCGTGAGGAAGACCACGGTCCTGGATGTCATGAGGCGGCTGCTGCAGCCCAAGAACGTGATGGTGTCCACAGGCCGAGACCGCCAGACCAACCACTGCTACATCGCCATCCTCAACATCATCCAGGGAGAGGTGGACCCCACCCAGGTAGGGGAGGCCCCTTCATCCCACACCCTGGACCTGCAGGGGTAGAGGAGAGGCCACCTCCACTGCTCCTATGCCCACCCCAGGTCCACAAGAGCTTGCAGAGGATCCGGGAACGCAAGTTGGCCAACTTCATCCCGTGGGGCCCCGCCAGCATCCAGGTGGCCCTGTCGAGGAAGTCTCCCTACCTGCCCTCGGCCCACCGGGTCAGCGGGCTCATGATGGCCAACCACACCAGCATCTCCTCGGTGAGTCTCAAAGTTTGCACCTTTTTTCCCTGAATCAGTTTCCTGACTATACCTCACCTCTCTGCATCTGCTGGCCCTGCTTCTAGCTTTTTTGCTGTGGGCATAGCCCAGCCTTGGTTCCCCAGCTTTCTGGGCCACGTTATTCTTTGAAGTTCTTTGTAACCCCTGTTTTCTGCACACCCCAAGCTCTTCGAGAGAACCTGTCGCCAGTATGACAAGCTGCGTAAGCGGGAGGCCTTCCTGGAGCAGTTCCGCAAGGAGGACATGTTCAAGGACAACTTTGATGAGATGGACACATCCAGGGAGATTGTGCAGCAGCTCATCGATGAGTACCATGCGGCCACACGGCCAGACTACATCTCCTGGGGCACCCAGGAGCAGTGAGTCCCCCAGGACAGGGACCCTCATCTGCCTTACTGGTTGGCCCAAGCCCTGCCTGACTGACCACCCCCTCAGAGCACAGATCAGGGACCTCACGCATCTCTTTCTCATATACATGGACTCTCTGTTGGCCTGCAAACACATTTACTTCTCCTCTTATGAGACTATTTATCTTTAATAAAGCACTGGATATAAATCAAGTCACTGCTCCCTTTAAAGCCTTTGGGTTCTGGAGATGCGGTGGGGATGCCTGTTCTTTCTCCATCATTCTGACAGGGTCCTCACCCACTTCCAGCATCTTCAATTCTGAACCAACAGCTTCCCCTAGGTTTTTCCTCTGCCTAGTTTTGGAGAACGCTGGTGGGGTTTGACCCACCTGAAATTCCTTTCCAGGGTAAAAAGGCCCAGAGATATTACTTTGTTCTCTGTCTGACCCTTTCTGGGTCCCCGTTCCCTCCCACCCTCACTGTATCAGGTGAATATTCCACCAGCCTCATGTTTCCACATCAGAGTGTCTGATTAATCACAACCTGAGGCCCAAGGCCACCACCACTGCCACTAGGCCATGAACAAGCAATGGAGTCCAACCCAATACCTTTAAGCTTCTAGCAAGCAGTCCAGGAGAGCCGCTCGTTTCAGGCAGTTGGAGTCTAGCAGCATCAAGTCAGCGACCAAATCTAAAACCTAGACTGTAAGCAGGATCATAAGTGGTTCCATAGCTAAGGCACCGTAATTCTCTTCTCTAGTGGTTGCCAGTAATTTAAATGGCCAGTGCCTTCTACTTCTGGTGGAAGATTGCAGGGAGGTAGTAAATACATAGGGGCCTAAGTCTTCAGGATTGTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCGCTTTGTCACCCAGGCTGGAATGCAGTGGCATAATCACGGTTCACTGCAGCCTCGACCTCCCTGGCTCAGGCGATCCTCCTGTCTCAGCCTCTTAAGTAGCTGGGATCACAGGCACACACCACCTAAATCTTCAGGATAAAAAGGGCAAAGCAGGTTCTCCTTAGAGCATGGTGGGTTGTCAGGGCCCCATTAGGCTCTTATACACACCATAAAGTTATATAGTAGTGACAGCTAACACGCACACATACGCTGTGAGAAGTACATTATTTTGTTGAATCCTCACAACAACCCTATGAAGTGGTAGATACTAATTTTTTTTTTTTTGAAATGGAGTCTGGCTCTATTCCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCCAGCAGTTCTCCTGTCTCAGCCTCCCAAGCAGCTGGGACTACAGGTGCCCGCCACTGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA
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ATGAGATGGGTCTAGTTTGACATCCTGCCACTAGATACCTGTACACTGACTGCCCCTTCCCCATGCAGGGCTTTGTGCTGTGTCACTCCATTGCTGGGGGGACAGGCTCTGGACTGGGTTCCTACCTCTTAGAACGGCTGAATGACAGGTAAGTTTGTGTTTGGGGATTAGGAAAGGTCTCCAACTTGGCTTCCTAAATGACTAGGGGACCCAGCAGATATAACTCCATATTTGCTGGAACAGGAAAGAGTTCTTATATTCCCTCCTATAGAGAGGAAAATGAAGTTACAATGACTGAGAACCCCATCACACTCCCAGTAGTGGGAACTGGAGCCTAGAACCTGAGCCCTGGATGAAAGTCGAGGGAGTGTGGCCAGGTCTCAATTTGGAAGCCCAGAGTCTAAGATGTCTCTGCCCTTCCCCCTGTAGGGCTACAGACTTCCAAAAGTCAAGGCTCCCTTCTCTACTGATTTGACCCCACCCCAGTTTCGCCATCAAGATTTATCTGCTTCTGGACAGTTGTTAGGGAGCGCCATGTTCACCAGGCCTTCGGTCTGTTGCCCTGATCCTTTCCCCAACCCCCACCAGGTATCCTAAGAAGCTGGTGCAGACATACTCAGTGTTTCCCAACCAGGACGAGATGAGCGATGTGGTGGTCCAGCCTTACAATTCACTCCTCACACTCAAGAGGCTGACGCAGAATGCAGACTGTGTGGTGAGTCCTGGATTCTACCTCTCCCAACTCTCAACACCCCATACCCACTCGAGTCTATTAAATCATTTTCATGTATTTAAAAAAAATCCATTTTAGCCAGGTGCAGTGGCTCATGACTGTAATCCCATCACTTTGGGAGGCCAAGGTCGTTGGATCGTTTGAGTTTAGGAGTTCGAGACCAGCCTGGGCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCGGGAGTGGTGATATGTGCAGAAGGATCACTTGTGCCTCAGAGGCAGGGGCTGCAGTGAGCTGAGATCATGTCACTGACTGCACTCCAGCCGGGGTGACAAAGTGAAACCCTGTCTCAAAAAACAAGAACAAAAAAAAAAACTGTTTAAATAATTAAGATGAAAAGAAAAATTTAAAAATCCATTTTGAGCCCTCCTTTGCCCTAGGTCAGTGCAAATCTCTTTCCAGTGAGTCTTTCTGGCCATGAAGCTCAAAGGAAATTAAGCTTCAGAGCCTAGGGTCAGGCAGAGCTCCTGTTTTTCTTATCCCCATTGATCTGTGATCCTCTTCTGTCCCCCCAGGTGGTGCTGGACAACACAGCCCTGAACCGGATTGCCACAGACCGCCTGCACATCCAGAACCCATCCTTCTCCCAGATCAACCAGCTGGTGGGCCCCCACTCCTGGACTCCTTTGGACTTGAAGCCCTCCTTGTTGGAGGGTCATTTGGGGAAGGGAGGTCCCACCCAGGCTGAGGCCCATAACATGGCACGCCTGTCCCCAGGTGTCTACCATCATGTCAGCCAGCACCACCACCCTGCGCTACCCTGGCTACATGAACAATGACCTCATCGGCCTCATCGCCTCGCTCATTCCCACCCCACGGCTCCACTTCCTCATGACCGGCTACACCCCTCTCACTACGGACCAGTCAGTAAGAGCAGCCTTCAGTGTCCCAGGCCAGGCCGGCCCTGGGCCCAACAGGCCCTGTCCTAGCCTTTCTCTCTTCCCCACTGCCCCAGGAGCTACCCTTTGTGGACCCCAAGGCGCGGCGCTCAGGGACTGGCACAGAGTGGGCGACTTTCTTGCTGACTTGCTCTCCACCCTCCCTCTGCCTTTGGCTTCTGCCAAAGAGAAGCCAAAGGGGGACTGTGCCCTGAGCGCTGGCCGGGTCCCTGTCTCACTGTCCTATCAGGTGGCCAGCGTGAGGAAGACCACGGTCCTGGATGTCATGAGGCGGCTGCTGCAGCCCAAGAACGTGATGGTGTCCACAGGCCGAGACCGCCAGACCAACCACTGCTACATCGCCATCCTCAACATCATCCAGGGAGAGGTGGACCCCCCCCAGGTAGGGGAGGCCCCTTCATCCCACACCCTGGACCTGCAGGGGTAGAGGAGAGGCCACCTCCACTGCTCCTATGCCCACCCCAGGTCCACAAGAGCTTGCAGAGGATCCGGGAACGCAAGTTGGCCAACTTCATCCCGTGGGGCCCCGCCAGCATCCAGGTGGCCCTGTCGAGGAAGTCTCCCTACCTGCCCTCGGCCCACCGGGTCAGCGGGCTCATGATGGCCAACCACACCAGCATCTCCTCGGTGAGTCTCAAAGTTTGCACCTTTTTTCCCTGAATCAGTTTCCTGACTATACCTCACCTCTCTGCATCTGCTGGCCCTGCTTCTAGCTTTTTTGCTGTGGGCATAGCCCAGCCTTGGTTCCCCAGCTTTCTGGGCCACGTTATTCTTTGAAGTTCTTTGTAACCCCTGTTTTCTGCACACCCCAAGCTCTTCGAGAGAACCTGTCGCCAGTATGACAAGCTGCGTAAGCGGGAGGCCTTCCTGGAGCAGTTCCGCAAGGAGGACATGTTCAAGGACAACTTTGATGAGATGGACACATCCAGGGAGATTGTGCAGCAGCTCATCGATGAGTACCATGCGGCCACACGGCCAGACTACATCTCCTGGGGCACCCAGGAGCAGTGAGTCCCCCAGGACAGGGACCCTCATCTGCCTTACTGGTTGGCCCAAGCCCTGCCTGACTGACCACCCCCTCAGAGCACAGATCAGGGACCTCACGCATCTCTTTCTCATATACATGGACTCTCTGTTGGCCTGCAAACACATTTACTTCTCCTCTTATGAGACTATTTATCTTTAATAAAGCACTGGATATAAATCAAGTCACTGCTCCCTTTAAAGCCTTTGGGTTCTGGAGATGCGGTGGGGATGCCTGTTCTTTCTCCATCATTCTGACAGGGTCCTCACCCACTTCCAGCATCTTCAATTCTGAACCAACAGCTTCCCCTAGGTTTTTCCTCTGCCTAGTTTTGGAGAACGCTGGTGGGGTTTGACCCACCTGAAATTCCTTTCCAGGGTAAAAAGGCCCAGAGATATTACTTTGTTCTCTGTCTGACCCTTTCTGGGTCCCCGTTCCCTCCCACCCTCACTGTATCAGGTGAATATTCCACCAGCCTCATGTTTCCACATCAGAGTGTCTGATTAATCACAACCTGAGGCCCAAGGCCACCACCACTGCCACTAGGCCATGAACAAGCAATGGAGTCCAACCCAATACCTTTAAGCTTCTAGCAAGCAGTCCAGGAGAGCCGCTCGTTTCAGGCAGTTGGAGTCTAGCAGCATCAAGTCAGCGACCAAATCTAAAACCTAGACTGTAAGCAGGATCATAAGTGGTTCCATAGCTAAGGCACCGTAATTCTCTTCTCTAGTGGTTGCCAGTAATTTAAATGGCCAGTGCCTTCTACTTCTGGTGGAAGATTGCAGGGAGGTAGTAAATACATAGGGGCCTAAGTCTTCAGGATTGTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCGCTTTGTCACCCAGGCTGGAATGCAGTGGCATAATCACGGTTCACTGCAGCCTCGACCTCCCTGGCTCAGGCGATCCTCCTGTCTCAGCCTCTTAAGTAGCTGGGATCACAGGCACACACCACCTAAATCTTCAGGATAAAAAGGGCAAAGCAGGTTCTCCTTAGAGCATGGTGGGTTGTCAGGGCCCCATTAGGCTCTTATACACACCATAAAGTTATATAGTAGTGACAGCTAACACGCACACATACGCTGTGAGAAGTACATTATTTTGTTGAATCCTCACAACAACCCTATGAAGTGGTAGATACTAATTTTTTTTTTTTTGAAATGGAGTCTGGCTCTATTCCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCCAGCAGTTCTCCTGTCTCAGCCTCCCAAGCAGCTGGGACTACAGGTGCCCGCCACTGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA
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Task1_train_24495
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A variant on Chromosome 17 in gene TUBG1 (tubulin gamma 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; Complex cortical dysplasia with other brain malformations 4
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TGGGTTCCTACCTCTTAGAACGGCTGAATGACAGGTAAGTTTGTGTTTGGGGATTAGGAAAGGTCTCCAACTTGGCTTCCTAAATGACTAGGGGACCCAGCAGATATAACTCCATATTTGCTGGAACAGGAAAGAGTTCTTATATTCCCTCCTATAGAGAGGAAAATGAAGTTACAATGACTGAGAACCCCATCACACTCCCAGTAGTGGGAACTGGAGCCTAGAACCTGAGCCCTGGATGAAAGTCGAGGGAGTGTGGCCAGGTCTCAATTTGGAAGCCCAGAGTCTAAGATGTCTCTGCCCTTCCCCCTGTAGGGCTACAGACTTCCAAAAGTCAAGGCTCCCTTCTCTACTGATTTGACCCCACCCCAGTTTCGCCATCAAGATTTATCTGCTTCTGGACAGTTGTTAGGGAGCGCCATGTTCACCAGGCCTTCGGTCTGTTGCCCTGATCCTTTCCCCAACCCCCACCAGGTATCCTAAGAAGCTGGTGCAGACATACTCAGTGTTTCCCAACCAGGACGAGATGAGCGATGTGGTGGTCCAGCCTTACAATTCACTCCTCACACTCAAGAGGCTGACGCAGAATGCAGACTGTGTGGTGAGTCCTGGATTCTACCTCTCCCAACTCTCAACACCCCATACCCACTCGAGTCTATTAAATCATTTTCATGTATTTAAAAAAAATCCATTTTAGCCAGGTGCAGTGGCTCATGACTGTAATCCCATCACTTTGGGAGGCCAAGGTCGTTGGATCGTTTGAGTTTAGGAGTTCGAGACCAGCCTGGGCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCGGGAGTGGTGATATGTGCAGAAGGATCACTTGTGCCTCAGAGGCAGGGGCTGCAGTGAGCTGAGATCATGTCACTGACTGCACTCCAGCCGGGGTGACAAAGTGAAACCCTGTCTCAAAAAACAAGAACAAAAAAAAAAACTGTTTAAATAATTAAGATGAAAAGAAAAATTTAAAAATCCATTTTGAGCCCTCCTTTGCCCTAGGTCAGTGCAAATCTCTTTCCAGTGAGTCTTTCTGGCCATGAAGCTCAAAGGAAATTAAGCTTCAGAGCCTAGGGTCAGGCAGAGCTCCTGTTTTTCTTATCCCCATTGATCTGTGATCCTCTTCTGTCCCCCCAGGTGGTGCTGGACAACACAGCCCTGAACCGGATTGCCACAGACCGCCTGCACATCCAGAACCCATCCTTCTCCCAGATCAACCAGCTGGTGGGCCCCCACTCCTGGACTCCTTTGGACTTGAAGCCCTCCTTGTTGGAGGGTCATTTGGGGAAGGGAGGTCCCACCCAGGCTGAGGCCCATAACATGGCACGCCTGTCCCCAGGTGTCTACCATCATGTCAGCCAGCACCACCACCCTGCGCTACCCTGGCTACATGAACAATGACCTCATCGGCCTCATCGCCTCGCTCATTCCCACCCCACGGCTCCACTTCCTCATGACCGGCTACACCCCTCTCACTACGGACCAGTCAGTAAGAGCAGCCTTCAGTGTCCCAGGCCAGGCCGGCCCTGGGCCCAACAGGCCCTGTCCTAGCCTTTCTCTCTTCCCCACTGCCCCAGGAGCTACCCTTTGTGGACCCCAAGGCGCGGCGCTCAGGGACTGGCACAGAGTGGGCGACTTTCTTGCTGACTTGCTCTCCACCCTCCCTCTGCCTTTGGCTTCTGCCAAAGAGAAGCCAAAGGGGGACTGTGCCCTGAGCGCTGGCCGGGTCCCTGTCTCACTGTCCTATCAGGTGGCCAGCGTGAGGAAGACCACGGTCCTGGATGTCATGAGGCGGCTGCTGCAGCCCAAGAACGTGATGGTGTCCACAGGCCGAGACCGCCAGACCAACCACTGCTACATCGCCATCCTCAACATCATCCAGGGAGAGGTGGACCCCACCCAGGTAGGGGAGGCCCCTTCATCCCACACCCTGGACCTGCAGGGGTAGAGGAGAGGCCACCTCCACTGCTCCTATGCCCACCCCAGGTCCACAAGAGCTTGCAGAGGATCCGGGAACGCAAGTTGGCCAACTTCATCCCGTGGGGCCCCGCCAGCATCCAGGTGGCCCTGTCGAGGAAGTCTCCCTACCTGCCCTCGGCCCACCGGGTCAGCGGGCTCATGATGGCCAACCACACCAGCATCTCCTCGGTGAGTCTCAAAGTTTGCACCTTTTTTCCCTGAATCAGTTTCCTGACTATACCTCACCTCTCTGCATCTGCTGGCCCTGCTTCTAGCTTTTTTGCTGTGGGCATAGCCCAGCCTTGGTTCCCCAGCTTTCTGGGCCACGTTATTCTTTGAAGTTCTTTGTAACCCCTGTTTTCTGCACACCCCAAGCTCTTCGAGAGAACCTGTCGCCAGTATGACAAGCTGCGTAAGCGGGAGGCCTTCCTGGAGCAGTTCCGCAAGGAGGACATGTTCAAGGACAACTTTGATGAGATGGACACATCCAGGGAGATTGTGCAGCAGCTCATCGATGAGTACCATGCGGCCACACGGCCAGACTACATCTCCTGGGGCACCCAGGAGCAGTGAGTCCCCCAGGACAGGGACCCTCATCTGCCTTACTGGTTGGCCCAAGCCCTGCCTGACTGACCACCCCCTCAGAGCACAGATCAGGGACCTCACGCATCTCTTTCTCATATACATGGACTCTCTGTTGGCCTGCAAACACATTTACTTCTCCTCTTATGAGACTATTTATCTTTAATAAAGCACTGGATATAAATCAAGTCACTGCTCCCTTTAAAGCCTTTGGGTTCTGGAGATGCGGTGGGGATGCCTGTTCTTTCTCCATCATTCTGACAGGGTCCTCACCCACTTCCAGCATCTTCAATTCTGAACCAACAGCTTCCCCTAGGTTTTTCCTCTGCCTAGTTTTGGAGAACGCTGGTGGGGTTTGACCCACCTGAAATTCCTTTCCAGGGTAAAAAGGCCCAGAGATATTACTTTGTTCTCTGTCTGACCCTTTCTGGGTCCCCGTTCCCTCCCACCCTCACTGTATCAGGTGAATATTCCACCAGCCTCATGTTTCCACATCAGAGTGTCTGATTAATCACAACCTGAGGCCCAAGGCCACCACCACTGCCACTAGGCCATGAACAAGCAATGGAGTCCAACCCAATACCTTTAAGCTTCTAGCAAGCAGTCCAGGAGAGCCGCTCGTTTCAGGCAGTTGGAGTCTAGCAGCATCAAGTCAGCGACCAAATCTAAAACCTAGACTGTAAGCAGGATCATAAGTGGTTCCATAGCTAAGGCACCGTAATTCTCTTCTCTAGTGGTTGCCAGTAATTTAAATGGCCAGTGCCTTCTACTTCTGGTGGAAGATTGCAGGGAGGTAGTAAATACATAGGGGCCTAAGTCTTCAGGATTGTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCGCTTTGTCACCCAGGCTGGAATGCAGTGGCATAATCACGGTTCACTGCAGCCTCGACCTCCCTGGCTCAGGCGATCCTCCTGTCTCAGCCTCTTAAGTAGCTGGGATCACAGGCACACACCACCTAAATCTTCAGGATAAAAAGGGCAAAGCAGGTTCTCCTTAGAGCATGGTGGGTTGTCAGGGCCCCATTAGGCTCTTATACACACCATAAAGTTATATAGTAGTGACAGCTAACACGCACACATACGCTGTGAGAAGTACATTATTTTGTTGAATCCTCACAACAACCCTATGAAGTGGTAGATACTAATTTTTTTTTTTTTGAAATGGAGTCTGGCTCTATTCCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCCAGCAGTTCTCCTGTCTCAGCCTCCCAAGCAGCTGGGACTACAGGTGCCCGCCACTGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCTGGTAGATACTAATTTTTAAAATACAATAACAAGGCCGGGTGCGGCG
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TGGGTTCCTACCTCTTAGAACGGCTGAATGACAGGTAAGTTTGTGTTTGGGGATTAGGAAAGGTCTCCAACTTGGCTTCCTAAATGACTAGGGGACCCAGCAGATATAACTCCATATTTGCTGGAACAGGAAAGAGTTCTTATATTCCCTCCTATAGAGAGGAAAATGAAGTTACAATGACTGAGAACCCCATCACACTCCCAGTAGTGGGAACTGGAGCCTAGAACCTGAGCCCTGGATGAAAGTCGAGGGAGTGTGGCCAGGTCTCAATTTGGAAGCCCAGAGTCTAAGATGTCTCTGCCCTTCCCCCTGTAGGGCTACAGACTTCCAAAAGTCAAGGCTCCCTTCTCTACTGATTTGACCCCACCCCAGTTTCGCCATCAAGATTTATCTGCTTCTGGACAGTTGTTAGGGAGCGCCATGTTCACCAGGCCTTCGGTCTGTTGCCCTGATCCTTTCCCCAACCCCCACCAGGTATCCTAAGAAGCTGGTGCAGACATACTCAGTGTTTCCCAACCAGGACGAGATGAGCGATGTGGTGGTCCAGCCTTACAATTCACTCCTCACACTCAAGAGGCTGACGCAGAATGCAGACTGTGTGGTGAGTCCTGGATTCTACCTCTCCCAACTCTCAACACCCCATACCCACTCGAGTCTATTAAATCATTTTCATGTATTTAAAAAAAATCCATTTTAGCCAGGTGCAGTGGCTCATGACTGTAATCCCATCACTTTGGGAGGCCAAGGTCGTTGGATCGTTTGAGTTTAGGAGTTCGAGACCAGCCTGGGCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCGGGAGTGGTGATATGTGCAGAAGGATCACTTGTGCCTCAGAGGCAGGGGCTGCAGTGAGCTGAGATCATGTCACTGACTGCACTCCAGCCGGGGTGACAAAGTGAAACCCTGTCTCAAAAAACAAGAACAAAAAAAAAAACTGTTTAAATAATTAAGATGAAAAGAAAAATTTAAAAATCCATTTTGAGCCCTCCTTTGCCCTAGGTCAGTGCAAATCTCTTTCCAGTGAGTCTTTCTGGCCATGAAGCTCAAAGGAAATTAAGCTTCAGAGCCTAGGGTCAGGCAGAGCTCCTGTTTTTCTTATCCCCATTGATCTGTGATCCTCTTCTGTCCCCCCAGGTGGTGCTGGACAACACAGCCCTGAACCGGATTGCCACAGACCGCCTGCACATCCAGAACCCATCCTTCTCCCAGATCAACCAGCTGGTGGGCCCCCACTCCTGGACTCCTTTGGACTTGAAGCCCTCCTTGTTGGAGGGTCATTTGGGGAAGGGAGGTCCCACCCAGGCTGAGGCCCATAACATGGCACGCCTGTCCCCAGGTGTCTACCATCATGTCAGCCAGCACCACCACCCTGCGCTACCCTGGCTACATGAACAATGACCTCATCGGCCTCATCGCCTCGCTCATTCCCACCCCACGGCTCCACTTCCTCATGACCGGCTACACCCCTCTCACTACGGACCAGTCAGTAAGAGCAGCCTTCAGTGTCCCAGGCCAGGCCGGCCCTGGGCCCAACAGGCCCTGTCCTAGCCTTTCTCTCTTCCCCACTGCCCCAGGAGCTACCCTTTGTGGACCCCAAGGCGCGGCGCTCAGGGACTGGCACAGAGTGGGCGACTTTCTTGCTGACTTGCTCTCCACCCTCCCTCTGCCTTTGGCTTCTGCCAAAGAGAAGCCAAAGGGGGACTGTGCCCTGAGCGCTGGCCGGGTCCCTGTCTCACTGTCCTATCAGGTGGCCAGCGTGAGGAAGACCACGGTCCTGGATGTCATGAGGCGGCTGCTGCAGCCCAAGAACGTGATGGTGTCCACAGGCCGAGACCGCCAGACCAACCACTGCTACATCGCCATCCTCAACATCATCCAGGGAGAGGTGGACCCCACCCAGGTAGGGGAGGCCCCTTCATCCCACACCCTGGACCTGCAGGGGTAGAGGAGAGGCCACCTCCACTGCTCCTATGCCCACCCCAGGTCCACAAGAGCTTGCAGAGGATCCAGGAACGCAAGTTGGCCAACTTCATCCCGTGGGGCCCCGCCAGCATCCAGGTGGCCCTGTCGAGGAAGTCTCCCTACCTGCCCTCGGCCCACCGGGTCAGCGGGCTCATGATGGCCAACCACACCAGCATCTCCTCGGTGAGTCTCAAAGTTTGCACCTTTTTTCCCTGAATCAGTTTCCTGACTATACCTCACCTCTCTGCATCTGCTGGCCCTGCTTCTAGCTTTTTTGCTGTGGGCATAGCCCAGCCTTGGTTCCCCAGCTTTCTGGGCCACGTTATTCTTTGAAGTTCTTTGTAACCCCTGTTTTCTGCACACCCCAAGCTCTTCGAGAGAACCTGTCGCCAGTATGACAAGCTGCGTAAGCGGGAGGCCTTCCTGGAGCAGTTCCGCAAGGAGGACATGTTCAAGGACAACTTTGATGAGATGGACACATCCAGGGAGATTGTGCAGCAGCTCATCGATGAGTACCATGCGGCCACACGGCCAGACTACATCTCCTGGGGCACCCAGGAGCAGTGAGTCCCCCAGGACAGGGACCCTCATCTGCCTTACTGGTTGGCCCAAGCCCTGCCTGACTGACCACCCCCTCAGAGCACAGATCAGGGACCTCACGCATCTCTTTCTCATATACATGGACTCTCTGTTGGCCTGCAAACACATTTACTTCTCCTCTTATGAGACTATTTATCTTTAATAAAGCACTGGATATAAATCAAGTCACTGCTCCCTTTAAAGCCTTTGGGTTCTGGAGATGCGGTGGGGATGCCTGTTCTTTCTCCATCATTCTGACAGGGTCCTCACCCACTTCCAGCATCTTCAATTCTGAACCAACAGCTTCCCCTAGGTTTTTCCTCTGCCTAGTTTTGGAGAACGCTGGTGGGGTTTGACCCACCTGAAATTCCTTTCCAGGGTAAAAAGGCCCAGAGATATTACTTTGTTCTCTGTCTGACCCTTTCTGGGTCCCCGTTCCCTCCCACCCTCACTGTATCAGGTGAATATTCCACCAGCCTCATGTTTCCACATCAGAGTGTCTGATTAATCACAACCTGAGGCCCAAGGCCACCACCACTGCCACTAGGCCATGAACAAGCAATGGAGTCCAACCCAATACCTTTAAGCTTCTAGCAAGCAGTCCAGGAGAGCCGCTCGTTTCAGGCAGTTGGAGTCTAGCAGCATCAAGTCAGCGACCAAATCTAAAACCTAGACTGTAAGCAGGATCATAAGTGGTTCCATAGCTAAGGCACCGTAATTCTCTTCTCTAGTGGTTGCCAGTAATTTAAATGGCCAGTGCCTTCTACTTCTGGTGGAAGATTGCAGGGAGGTAGTAAATACATAGGGGCCTAAGTCTTCAGGATTGTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCGCTTTGTCACCCAGGCTGGAATGCAGTGGCATAATCACGGTTCACTGCAGCCTCGACCTCCCTGGCTCAGGCGATCCTCCTGTCTCAGCCTCTTAAGTAGCTGGGATCACAGGCACACACCACCTAAATCTTCAGGATAAAAAGGGCAAAGCAGGTTCTCCTTAGAGCATGGTGGGTTGTCAGGGCCCCATTAGGCTCTTATACACACCATAAAGTTATATAGTAGTGACAGCTAACACGCACACATACGCTGTGAGAAGTACATTATTTTGTTGAATCCTCACAACAACCCTATGAAGTGGTAGATACTAATTTTTTTTTTTTTGAAATGGAGTCTGGCTCTATTCCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCCAGCAGTTCTCCTGTCTCAGCCTCCCAAGCAGCTGGGACTACAGGTGCCCGCCACTGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCTGGTAGATACTAATTTTTAAAATACAATAACAAGGCCGGGTGCGGCG
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Task1_train_24496
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A genetic alteration is present in TUBG1 (tubulin gamma 1) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Complex cortical dysplasia with other brain malformations 4
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CTTCCAAAAGTCAAGGCTCCCTTCTCTACTGATTTGACCCCACCCCAGTTTCGCCATCAAGATTTATCTGCTTCTGGACAGTTGTTAGGGAGCGCCATGTTCACCAGGCCTTCGGTCTGTTGCCCTGATCCTTTCCCCAACCCCCACCAGGTATCCTAAGAAGCTGGTGCAGACATACTCAGTGTTTCCCAACCAGGACGAGATGAGCGATGTGGTGGTCCAGCCTTACAATTCACTCCTCACACTCAAGAGGCTGACGCAGAATGCAGACTGTGTGGTGAGTCCTGGATTCTACCTCTCCCAACTCTCAACACCCCATACCCACTCGAGTCTATTAAATCATTTTCATGTATTTAAAAAAAATCCATTTTAGCCAGGTGCAGTGGCTCATGACTGTAATCCCATCACTTTGGGAGGCCAAGGTCGTTGGATCGTTTGAGTTTAGGAGTTCGAGACCAGCCTGGGCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCGGGAGTGGTGATATGTGCAGAAGGATCACTTGTGCCTCAGAGGCAGGGGCTGCAGTGAGCTGAGATCATGTCACTGACTGCACTCCAGCCGGGGTGACAAAGTGAAACCCTGTCTCAAAAAACAAGAACAAAAAAAAAAACTGTTTAAATAATTAAGATGAAAAGAAAAATTTAAAAATCCATTTTGAGCCCTCCTTTGCCCTAGGTCAGTGCAAATCTCTTTCCAGTGAGTCTTTCTGGCCATGAAGCTCAAAGGAAATTAAGCTTCAGAGCCTAGGGTCAGGCAGAGCTCCTGTTTTTCTTATCCCCATTGATCTGTGATCCTCTTCTGTCCCCCCAGGTGGTGCTGGACAACACAGCCCTGAACCGGATTGCCACAGACCGCCTGCACATCCAGAACCCATCCTTCTCCCAGATCAACCAGCTGGTGGGCCCCCACTCCTGGACTCCTTTGGACTTGAAGCCCTCCTTGTTGGAGGGTCATTTGGGGAAGGGAGGTCCCACCCAGGCTGAGGCCCATAACATGGCACGCCTGTCCCCAGGTGTCTACCATCATGTCAGCCAGCACCACCACCCTGCGCTACCCTGGCTACATGAACAATGACCTCATCGGCCTCATCGCCTCGCTCATTCCCACCCCACGGCTCCACTTCCTCATGACCGGCTACACCCCTCTCACTACGGACCAGTCAGTAAGAGCAGCCTTCAGTGTCCCAGGCCAGGCCGGCCCTGGGCCCAACAGGCCCTGTCCTAGCCTTTCTCTCTTCCCCACTGCCCCAGGAGCTACCCTTTGTGGACCCCAAGGCGCGGCGCTCAGGGACTGGCACAGAGTGGGCGACTTTCTTGCTGACTTGCTCTCCACCCTCCCTCTGCCTTTGGCTTCTGCCAAAGAGAAGCCAAAGGGGGACTGTGCCCTGAGCGCTGGCCGGGTCCCTGTCTCACTGTCCTATCAGGTGGCCAGCGTGAGGAAGACCACGGTCCTGGATGTCATGAGGCGGCTGCTGCAGCCCAAGAACGTGATGGTGTCCACAGGCCGAGACCGCCAGACCAACCACTGCTACATCGCCATCCTCAACATCATCCAGGGAGAGGTGGACCCCACCCAGGTAGGGGAGGCCCCTTCATCCCACACCCTGGACCTGCAGGGGTAGAGGAGAGGCCACCTCCACTGCTCCTATGCCCACCCCAGGTCCACAAGAGCTTGCAGAGGATCCGGGAACGCAAGTTGGCCAACTTCATCCCGTGGGGCCCCGCCAGCATCCAGGTGGCCCTGTCGAGGAAGTCTCCCTACCTGCCCTCGGCCCACCGGGTCAGCGGGCTCATGATGGCCAACCACACCAGCATCTCCTCGGTGAGTCTCAAAGTTTGCACCTTTTTTCCCTGAATCAGTTTCCTGACTATACCTCACCTCTCTGCATCTGCTGGCCCTGCTTCTAGCTTTTTTGCTGTGGGCATAGCCCAGCCTTGGTTCCCCAGCTTTCTGGGCCACGTTATTCTTTGAAGTTCTTTGTAACCCCTGTTTTCTGCACACCCCAAGCTCTTCGAGAGAACCTGTCGCCAGTATGACAAGCTGCGTAAGCGGGAGGCCTTCCTGGAGCAGTTCCGCAAGGAGGACATGTTCAAGGACAACTTTGATGAGATGGACACATCCAGGGAGATTGTGCAGCAGCTCATCGATGAGTACCATGCGGCCACACGGCCAGACTACATCTCCTGGGGCACCCAGGAGCAGTGAGTCCCCCAGGACAGGGACCCTCATCTGCCTTACTGGTTGGCCCAAGCCCTGCCTGACTGACCACCCCCTCAGAGCACAGATCAGGGACCTCACGCATCTCTTTCTCATATACATGGACTCTCTGTTGGCCTGCAAACACATTTACTTCTCCTCTTATGAGACTATTTATCTTTAATAAAGCACTGGATATAAATCAAGTCACTGCTCCCTTTAAAGCCTTTGGGTTCTGGAGATGCGGTGGGGATGCCTGTTCTTTCTCCATCATTCTGACAGGGTCCTCACCCACTTCCAGCATCTTCAATTCTGAACCAACAGCTTCCCCTAGGTTTTTCCTCTGCCTAGTTTTGGAGAACGCTGGTGGGGTTTGACCCACCTGAAATTCCTTTCCAGGGTAAAAAGGCCCAGAGATATTACTTTGTTCTCTGTCTGACCCTTTCTGGGTCCCCGTTCCCTCCCACCCTCACTGTATCAGGTGAATATTCCACCAGCCTCATGTTTCCACATCAGAGTGTCTGATTAATCACAACCTGAGGCCCAAGGCCACCACCACTGCCACTAGGCCATGAACAAGCAATGGAGTCCAACCCAATACCTTTAAGCTTCTAGCAAGCAGTCCAGGAGAGCCGCTCGTTTCAGGCAGTTGGAGTCTAGCAGCATCAAGTCAGCGACCAAATCTAAAACCTAGACTGTAAGCAGGATCATAAGTGGTTCCATAGCTAAGGCACCGTAATTCTCTTCTCTAGTGGTTGCCAGTAATTTAAATGGCCAGTGCCTTCTACTTCTGGTGGAAGATTGCAGGGAGGTAGTAAATACATAGGGGCCTAAGTCTTCAGGATTGTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCGCTTTGTCACCCAGGCTGGAATGCAGTGGCATAATCACGGTTCACTGCAGCCTCGACCTCCCTGGCTCAGGCGATCCTCCTGTCTCAGCCTCTTAAGTAGCTGGGATCACAGGCACACACCACCTAAATCTTCAGGATAAAAAGGGCAAAGCAGGTTCTCCTTAGAGCATGGTGGGTTGTCAGGGCCCCATTAGGCTCTTATACACACCATAAAGTTATATAGTAGTGACAGCTAACACGCACACATACGCTGTGAGAAGTACATTATTTTGTTGAATCCTCACAACAACCCTATGAAGTGGTAGATACTAATTTTTTTTTTTTTGAAATGGAGTCTGGCTCTATTCCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCCAGCAGTTCTCCTGTCTCAGCCTCCCAAGCAGCTGGGACTACAGGTGCCCGCCACTGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCTGGTAGATACTAATTTTTAAAATACAATAACAAGGCCGGGTGCGGCGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTTAGGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGGCAGAGCAAGACTCCGTCTCAAAAAAAGAAATAAAAGTAAAACAATAAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCA
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CTTCCAAAAGTCAAGGCTCCCTTCTCTACTGATTTGACCCCACCCCAGTTTCGCCATCAAGATTTATCTGCTTCTGGACAGTTGTTAGGGAGCGCCATGTTCACCAGGCCTTCGGTCTGTTGCCCTGATCCTTTCCCCAACCCCCACCAGGTATCCTAAGAAGCTGGTGCAGACATACTCAGTGTTTCCCAACCAGGACGAGATGAGCGATGTGGTGGTCCAGCCTTACAATTCACTCCTCACACTCAAGAGGCTGACGCAGAATGCAGACTGTGTGGTGAGTCCTGGATTCTACCTCTCCCAACTCTCAACACCCCATACCCACTCGAGTCTATTAAATCATTTTCATGTATTTAAAAAAAATCCATTTTAGCCAGGTGCAGTGGCTCATGACTGTAATCCCATCACTTTGGGAGGCCAAGGTCGTTGGATCGTTTGAGTTTAGGAGTTCGAGACCAGCCTGGGCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCGGGAGTGGTGATATGTGCAGAAGGATCACTTGTGCCTCAGAGGCAGGGGCTGCAGTGAGCTGAGATCATGTCACTGACTGCACTCCAGCCGGGGTGACAAAGTGAAACCCTGTCTCAAAAAACAAGAACAAAAAAAAAAACTGTTTAAATAATTAAGATGAAAAGAAAAATTTAAAAATCCATTTTGAGCCCTCCTTTGCCCTAGGTCAGTGCAAATCTCTTTCCAGTGAGTCTTTCTGGCCATGAAGCTCAAAGGAAATTAAGCTTCAGAGCCTAGGGTCAGGCAGAGCTCCTGTTTTTCTTATCCCCATTGATCTGTGATCCTCTTCTGTCCCCCCAGGTGGTGCTGGACAACACAGCCCTGAACCGGATTGCCACAGACCGCCTGCACATCCAGAACCCATCCTTCTCCCAGATCAACCAGCTGGTGGGCCCCCACTCCTGGACTCCTTTGGACTTGAAGCCCTCCTTGTTGGAGGGTCATTTGGGGAAGGGAGGTCCCACCCAGGCTGAGGCCCATAACATGGCACGCCTGTCCCCAGGTGTCTACCATCATGTCAGCCAGCACCACCACCCTGCGCTACCCTGGCTACATGAACAATGACCTCATCGGCCTCATCGCCTCGCTCATTCCCACCCCACGGCTCCACTTCCTCATGACCGGCTACACCCCTCTCACTACGGACCAGTCAGTAAGAGCAGCCTTCAGTGTCCCAGGCCAGGCCGGCCCTGGGCCCAACAGGCCCTGTCCTAGCCTTTCTCTCTTCCCCACTGCCCCAGGAGCTACCCTTTGTGGACCCCAAGGCGCGGCGCTCAGGGACTGGCACAGAGTGGGCGACTTTCTTGCTGACTTGCTCTCCACCCTCCCTCTGCCTTTGGCTTCTGCCAAAGAGAAGCCAAAGGGGGACTGTGCCCTGAGCGCTGGCCGGGTCCCTGTCTCACTGTCCTATCAGGTGGCCAGCGTGAGGAAGACCACGGTCCTGGATGTCATGAGGCGGCTGCTGCAGCCCAAGAACGTGATGGTGTCCACAGGCCGAGACCGCCAGACCAACCACTGCTACATCGCCATCCTCAACATCATCCAGGGAGAGGTGGACCCCACCCAGGTAGGGGAGGCCCCTTCATCCCACACCCTGGACCTGCAGGGGTAGAGGAGAGGCCACCTCCACTGCTCCTATGCCCACCCCAGGTCCACAAGAGCTTGCAGAGGATCCGGGAACGCAAGTTGGCCAACTTCATCCCGTGGGGCCCCGCCAGCATCCAGGTGGCCCTGTCGAGGAAGTCTCCCTACCTGCCCTCGGCCCACCGGGTCAGCGGGCTCATGATGGCCAACCACACCAGCATCTCCTCGGTGAGTCTCAAAGTTTGCACCTTTTTTCCCTGAATCAGTTTCCTGACTATACCTCACCTCTCTGCATCTGCTGGCCCTGCTTCTAGCTTTTTTGCTGTGGGCATAGCCCAGCCTTGGTTCCCCAGCTTTCTGGGCCACGTTATTCTTTGAAGTTCTTTGTAACCCCTGTTTTCTGCACACCCCAAGCCCTTCGAGAGAACCTGTCGCCAGTATGACAAGCTGCGTAAGCGGGAGGCCTTCCTGGAGCAGTTCCGCAAGGAGGACATGTTCAAGGACAACTTTGATGAGATGGACACATCCAGGGAGATTGTGCAGCAGCTCATCGATGAGTACCATGCGGCCACACGGCCAGACTACATCTCCTGGGGCACCCAGGAGCAGTGAGTCCCCCAGGACAGGGACCCTCATCTGCCTTACTGGTTGGCCCAAGCCCTGCCTGACTGACCACCCCCTCAGAGCACAGATCAGGGACCTCACGCATCTCTTTCTCATATACATGGACTCTCTGTTGGCCTGCAAACACATTTACTTCTCCTCTTATGAGACTATTTATCTTTAATAAAGCACTGGATATAAATCAAGTCACTGCTCCCTTTAAAGCCTTTGGGTTCTGGAGATGCGGTGGGGATGCCTGTTCTTTCTCCATCATTCTGACAGGGTCCTCACCCACTTCCAGCATCTTCAATTCTGAACCAACAGCTTCCCCTAGGTTTTTCCTCTGCCTAGTTTTGGAGAACGCTGGTGGGGTTTGACCCACCTGAAATTCCTTTCCAGGGTAAAAAGGCCCAGAGATATTACTTTGTTCTCTGTCTGACCCTTTCTGGGTCCCCGTTCCCTCCCACCCTCACTGTATCAGGTGAATATTCCACCAGCCTCATGTTTCCACATCAGAGTGTCTGATTAATCACAACCTGAGGCCCAAGGCCACCACCACTGCCACTAGGCCATGAACAAGCAATGGAGTCCAACCCAATACCTTTAAGCTTCTAGCAAGCAGTCCAGGAGAGCCGCTCGTTTCAGGCAGTTGGAGTCTAGCAGCATCAAGTCAGCGACCAAATCTAAAACCTAGACTGTAAGCAGGATCATAAGTGGTTCCATAGCTAAGGCACCGTAATTCTCTTCTCTAGTGGTTGCCAGTAATTTAAATGGCCAGTGCCTTCTACTTCTGGTGGAAGATTGCAGGGAGGTAGTAAATACATAGGGGCCTAAGTCTTCAGGATTGTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCGCTTTGTCACCCAGGCTGGAATGCAGTGGCATAATCACGGTTCACTGCAGCCTCGACCTCCCTGGCTCAGGCGATCCTCCTGTCTCAGCCTCTTAAGTAGCTGGGATCACAGGCACACACCACCTAAATCTTCAGGATAAAAAGGGCAAAGCAGGTTCTCCTTAGAGCATGGTGGGTTGTCAGGGCCCCATTAGGCTCTTATACACACCATAAAGTTATATAGTAGTGACAGCTAACACGCACACATACGCTGTGAGAAGTACATTATTTTGTTGAATCCTCACAACAACCCTATGAAGTGGTAGATACTAATTTTTTTTTTTTTGAAATGGAGTCTGGCTCTATTCCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCCAGCAGTTCTCCTGTCTCAGCCTCCCAAGCAGCTGGGACTACAGGTGCCCGCCACTGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCTGGTAGATACTAATTTTTAAAATACAATAACAAGGCCGGGTGCGGCGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTTAGGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGGCAGAGCAAGACTCCGTCTCAAAAAAAGAAATAAAAGTAAAACAATAAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCA
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Task1_train_24497
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This variant affects gene CNTNAP1 (contactin associated protein 1) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Neuropathy, congenital hypomyelinating, 3
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TTTGTGGCTGGGGCTGGGTTTTGTGGCAGGGATCCAAGCAGGAGCTGGTGCCCCTGACTGATGCTAAGGCTGGACATGGAGCTGGTGATGGTGCTAGCACTGGCTGAGGTTGGGTGCAAGGCCTGTATTTGGGGATGGTGCAGGTTTTGGGGGCCGAGTTGGATTGAGGCTAGGGTTGGAGCTGGATTGGTGTCTTGGGTTGACTTAGGTTGTGGAAGATGCTGAGGTTTAGGATTGAGTTTGGGAAAGTACTAAACCAGGGCAGGTATTGGGCTAGCTAGGGAGGGTCTGGCCTTGGGCCTATAGGTGTAGCCTAGGGGTTTGCCTAGAAGGAGAAGGTAGCCTCCTCTGAGCATGCAGCTGTTGCTGCAGCCAGGATTGAATAGATGGCTTTAAGGTAGGGCTGGGTGTGCCTCTGGGGGCGGGGGTTGGGGGCACGGAAGGGGAAGCTTCGGTCGCTAAGTGGGCCGGCCTTTGGAAGGGTCTGGGAGGGGCCAGCGCTGACTAACAGTCGGTTTCCCTACCCTAGACGGCTGCGACGAGGAGCTGGTGGGTCCCCTGTATGCACGCTCCCTGGGCGCCTCCTCCTACTACAGTCTCCTTACTGCGCCGAGATTCGCCAGGCTGCACGGTGAGCTCCGCGGAACATCAGCTGCCAACTGGCAGCGCACCGCGGAAGGGTGGGGGCCTCCGGAGGACTTCGGGGAGAGGGATAGCCGGTTAAAGCTCCTGTCCTTTCTATAGGCATAAGCGGGTGGTCACCACGGATTGGGGATCCGAATCCCTGGCTCCAGATAGACTTAATGAAGAAGCACCGGATCCGGGCCGTGGCCACACAGGGCTCCTTTAATTCTTGGGACTGGGTCACACGTTACATGCTACTCTACGGCGACCGAGTGGACAGCTGGACACCGTTCTACCAGCGAGGGCACAACTCGGTACTCTGGGCGCCAAGGCGGTAACACTTGGGGAGCTTCCTCTGCTCCAGGCTCTGGGCCGGGCACCAGCCTCTGGGAAAATGGAGGGGGTGGTGGTGAGGGCTCGGACAAGGAGCAGTGACTCCACTCCAGGGACTCTGTCCAGAGGGACTGTCAGCTTAGGACGTGCGCGAAACACTCGGTTCACAGGGTTTAACACACTTTAGGGTAAAACCTGGGAGAGCTTCCTAAGGAGGTGACATTTGATTTCAGGTCTGAGGAAATAATAGGATTGTGGGACAGGGCACTTTATGGAAACTGTGCGGGCAAAGCCGCCAAGCAGGGAAGACCAAGGAGTGTTTACTTTCCAGAAGTCGAGATTGGCTGGGTGTGAAAGTTGTGGGCTGGGAGGCTATGGAGAAAGAAGCAGAGGGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCATGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATGAAAAATACAAAAAAATCAGCCGGGCGTAGTGGCGGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGAAGAGAATTGTTTGAACCCGGGAGGCAGAGGTTGCGGTGAGCCGAGATCGTACCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAAATAAAAAAAAGAAGCAGAGGGCAGGACGTGGTTACTACTCTCCTCCACCCCCGCAGACCTTCTTTGGTAACGTGAACGAGTCGGCGGTGGTGCGCCATGACCTGCACTTCCACTTCACTGCGCGCTACATCCGCATCGTGCCCCTGGCCTGGAACCCACGCGGCAAGATCGGCCTGAGGCTCGGCCTCTATGGCTGCCCATACAGTAAGTGTGCAGAGAGCGCGGAGGGGGCCTGGGAGACAGCCTCCCCAGTTCCCGGCCCACCTACGGTCCTTTGCGCAGAGGCCGACATACTCTATTTCGACGGCGACGATGCCATCTCCTACCGCTTCCCGCGAGGGGTCAGCCGAAGCCTGTGGGACGTGTTCGCCTTCAGCTTCAAGACCGAGGAGAAGGACGGTCTTCTGCTGCACGCCGAGGGCGCCCAGGGCGACTACGTGACGCTCGAGCTGGAGGGGGCACACCTGCTGCTGCACATGAGCCTGGGTGAGCTCGGCGACCATGTGCGATGCGGAGCCAACCCCTGAAGCTCTCTCACCGCCCTCCTCGTGGCACCTCCTCCGCGCATCCGCGCTCAGCCTGGTCTTCCACTTCTCTAAGGCCTGGACCAAACTGCCCCTTTCTTGTAGCATTTGGTGCTAGCAAAACACTGGAGTTGAGTGAGAACTGGATTCCAGTCTCAGCTCTACCACTACACAGAGATGTGACCTCGGATGGGGCACTTCCGAGCCTCAGTTCCCTCCTTGTAAACACACACACACAGACGCACACACATTGTATCTCATTAGCTTTTCATAACACCCGCACATGAAATAGAAGCAGCTCATGTGTTCCCAGTTTTACAGACAGGAAGCCAGGCTAAATGGCTTACCCTGTCACACACTCGCCAATGGCTGTTGATCTATTCGCCCACTCTCCCTGATTGCCCTGGGCTTTGTTACACGCTGCTGCTCTGCCTAGGAGCTTGGACTCCATGGAGTTCTCCTGGCTTGAGGTTTCACTCTGTCCTGCCCCACCCTCAGGCAGCAGCCCTATCCAGCCAAGACCAGGTCACACCACCGTGAGCGCAGGCGGAGTCCTCAATGACCAGCACTGGCACTATGTGCGGGTGGACCGATTTGGCCGCGATGTAAATTTCACCCTGGACGGCTATGTGCAGCGCTTTATTCTCAATGGAGACTTCGAGAGGCTGAACCTGGACACTGAGGTGAGAGACTAGGGAGGTGCTATTTCGTGGTAGGGTAGATGCTGGATGAGTGAGTGCAGGTCGGTCTCTCCCTTTCTCTTTTCCTCTGTCTCTCAGAGGAAAGACCTGGCATTCAGGCTGTGGGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGCCAGGTGTTCAAGACTCACCTGGGCAACATAGTGACATCCTACCTCTATTTAAAAAAATTTTTTTTTTCAAAGACCTCGCATTCCAATTCCTGAATATCCTAGCAGCCCTTGGCAAACTTGCCACTCACCAGAAAAAGGCCTGTTTTTTTTTTTTTTTTTTTTTTTTGTGGGTGTTGTTGCTGTTAGCATGCAGACTCCCAGGCACTATTTCAGAACTAATGAGATGGGGTTTGGAAATTCAGATTTTGGGGACTAGGCAAGGTAGGAAAATTGTTCCCTTGGATCCTCCCACAACTTTGTGGAGTTGTTAAAGACCCTGACCCCATCTGCAGATAAGAATCCCAGGCAGGCTAATTGACTTGCCCAAGGGCGTGCAGCCGATTTGTGTTGGAGTCAGAGCTTGAACTCAAGCCTTGAAAGGCCTAGCGAGCTTTAGTACCGACACTGGGGAAATGTGTGTTTTAAGTCTTTTACAAAACCCCATCTGGCATTTGGGAAAGCATACGGCGGGGACGCGCGAGAAAGGCAGGCGCCCTCCTGTGCCCAAGAGGCCTCATTCCCCACGCCTCCCGCAGATGTTCATCGGAGGTCTGGTGGGCGCCGCGCGGAAGAACCTGGCCTATCGGCATAACTTCCGCGGCTGCATAGAAAACGTAATCTTCAACCGCGTCAACATCGCAGACCTGGCCGTGCGGCGCCATTCCCGGATCACCTTCGAGGCCAGTGGGCAGGGGGGTCTGGGAGGACAGGATATCAAAGCGTCGTGGAAAGCAAAGAGGTGGAGCGGGAAGAGATATTGAACATCAGATAAAAGCGGAGAATCCCTCTGTCCCCAGCCAGATGCTCAAGTTGGGAGGGGAGCGGGTCTCACCTGAGGTGCATGAGCCACGCAGGCCCCTAGTTAAGAAGCAGTGGTCGGGTCCAATCACCTTCTTAGTTCATAGATGAAGAAAGTAAGGCGCAGACACAGGGAGTGGCTTGTCCAGGGGTCGTGCAGCTGCACGGTGGCTGAGTAGGGACTTGAACCGATGGCTTCTCTGATATGCCCCCCTCAACCCTC
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TTTGTGGCTGGGGCTGGGTTTTGTGGCAGGGATCCAAGCAGGAGCTGGTGCCCCTGACTGATGCTAAGGCTGGACATGGAGCTGGTGATGGTGCTAGCACTGGCTGAGGTTGGGTGCAAGGCCTGTATTTGGGGATGGTGCAGGTTTTGGGGGCCGAGTTGGATTGAGGCTAGGGTTGGAGCTGGATTGGTGTCTTGGGTTGACTTAGGTTGTGGAAGATGCTGAGGTTTAGGATTGAGTTTGGGAAAGTACTAAACCAGGGCAGGTATTGGGCTAGCTAGGGAGGGTCTGGCCTTGGGCCTATAGGTGTAGCCTAGGGGTTTGCCTAGAAGGAGAAGGTAGCCTCCTCTGAGCATGCAGCTGTTGCTGCAGCCAGGATTGAATAGATGGCTTTAAGGTAGGGCTGGGTGTGCCTCTGGGGGCGGGGGTTGGGGGCACGGAAGGGGAAGCTTCGGTCGCTAAGTGGGCCGGCCTTTGGAAGGGTCTGGGAGGGGCCAGCGCTGACTAACAGTCGGTTTCCCTACCCTAGACGGCTGCGACGAGGAGCTGGTGGGTCCCCTGTATGCACGCTCCCTGGGCGCCTCCTCCTACTACAGTCTCCTTACTGCGCCGAGATTCGCCAGGCTGCACGGTGAGCTCCGCGGAACATCAGCTGCCAACTGGCAGCGCACCGCGGAAGGGTGGGGGCCTCCGGAGGACTTCGGGGAGAGGGATAGCCGGTTAAAGCTCCTGTCCTTTCTATAGGCATAAGCGGGTGGTCACCACGGATTGGGGATCCGAATCCCTGGCTCCAGATAGACTTAATGAAGAAGCACCGGATCCGGGCCGTGGCCACACAGGGCTCCTTTAATTCTTGGGACTGGGTCACACGTTACATGCTACTCTACGGCGACCGAGTGGACAGCTGGACACCGTTCTACCAGCGAGGGCACAACTCGGTACTCTGGGCGCCAAGGCGGTAACACTTGGGGAGCTTCCTCTGCTCCAGGCTCTGGGCCGGGCACCAGCCTCTGGGAAAATGGAGGGGGTGGTGGTGAGGGCTCGGACAAGGAGCAGTGACTCCACTCCAGGGACTCTGTCCAGAGGGACTGTCAGCTTAGGACGTGCGCGAAACACTCGGTTCACAGGGTTTAACACACTTTAGGGTAAAACCTGGGAGAGCTTCCTAAGGAGGTGACATTTGATTTCAGGTCTGAGGAAATAATAGGATTGTGGGACAGGGCACTTTATGGAAACTGTGCGGGCAAAGCCGCCAAGCAGGGAAGACCAAGGAGTGTTTACTTTCCAGAAGTCGAGATTGGCTGGGTGTGAAAGTTGTGGGCTGGGAGGCTATGGAGAAAGAAGCAGAGGGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCATGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATGAAAAATACAAAAAAATCAGCCGGGCGTAGTGGCGGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGAAGAGAATTGTTTGAACCCGGGAGGCAGAGGTTGCGGTGAGCCGAGATCGTACCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAAATAAAAAAAAGAAGCAGAGGGCAGGACGTGGTTACTACTCTCCTCCACCCCCGCAGACCTTCTTTGGTAACGTGAACGAGTCGGCGGTGGTGCGCCATGACCTGCACTTCCACTTCACTGCGCGCTACATCCGCATCGTGCCCCTGGCCTGGAACCCACGCGGCAAGATCGGCCTGAGGCTCGGCCTCTATGGCTGCCCATACAGTAAGTGTGCAGAGAGCGCGGAGGGGGCCTGGGAGACAGCCTCCCCAGTTCCCGGCCCACCTACGGTCCTTTGCGCAGAGGCCGACATACTCTATTTCGACGGCGACGATGCCATCTCCTACCGCTTCCCGCGAGGGGTCAGCCGAAGCCTGTGGGACGTGTTCGCCTTCAGCTTCAAGACCGAGGAGAAGGACGGTCTTCCGCTGCACGCCGAGGGCGCCCAGGGCGACTACGTGACGCTCGAGCTGGAGGGGGCACACCTGCTGCTGCACATGAGCCTGGGTGAGCTCGGCGACCATGTGCGATGCGGAGCCAACCCCTGAAGCTCTCTCACCGCCCTCCTCGTGGCACCTCCTCCGCGCATCCGCGCTCAGCCTGGTCTTCCACTTCTCTAAGGCCTGGACCAAACTGCCCCTTTCTTGTAGCATTTGGTGCTAGCAAAACACTGGAGTTGAGTGAGAACTGGATTCCAGTCTCAGCTCTACCACTACACAGAGATGTGACCTCGGATGGGGCACTTCCGAGCCTCAGTTCCCTCCTTGTAAACACACACACACAGACGCACACACATTGTATCTCATTAGCTTTTCATAACACCCGCACATGAAATAGAAGCAGCTCATGTGTTCCCAGTTTTACAGACAGGAAGCCAGGCTAAATGGCTTACCCTGTCACACACTCGCCAATGGCTGTTGATCTATTCGCCCACTCTCCCTGATTGCCCTGGGCTTTGTTACACGCTGCTGCTCTGCCTAGGAGCTTGGACTCCATGGAGTTCTCCTGGCTTGAGGTTTCACTCTGTCCTGCCCCACCCTCAGGCAGCAGCCCTATCCAGCCAAGACCAGGTCACACCACCGTGAGCGCAGGCGGAGTCCTCAATGACCAGCACTGGCACTATGTGCGGGTGGACCGATTTGGCCGCGATGTAAATTTCACCCTGGACGGCTATGTGCAGCGCTTTATTCTCAATGGAGACTTCGAGAGGCTGAACCTGGACACTGAGGTGAGAGACTAGGGAGGTGCTATTTCGTGGTAGGGTAGATGCTGGATGAGTGAGTGCAGGTCGGTCTCTCCCTTTCTCTTTTCCTCTGTCTCTCAGAGGAAAGACCTGGCATTCAGGCTGTGGGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGCCAGGTGTTCAAGACTCACCTGGGCAACATAGTGACATCCTACCTCTATTTAAAAAAATTTTTTTTTTCAAAGACCTCGCATTCCAATTCCTGAATATCCTAGCAGCCCTTGGCAAACTTGCCACTCACCAGAAAAAGGCCTGTTTTTTTTTTTTTTTTTTTTTTTTGTGGGTGTTGTTGCTGTTAGCATGCAGACTCCCAGGCACTATTTCAGAACTAATGAGATGGGGTTTGGAAATTCAGATTTTGGGGACTAGGCAAGGTAGGAAAATTGTTCCCTTGGATCCTCCCACAACTTTGTGGAGTTGTTAAAGACCCTGACCCCATCTGCAGATAAGAATCCCAGGCAGGCTAATTGACTTGCCCAAGGGCGTGCAGCCGATTTGTGTTGGAGTCAGAGCTTGAACTCAAGCCTTGAAAGGCCTAGCGAGCTTTAGTACCGACACTGGGGAAATGTGTGTTTTAAGTCTTTTACAAAACCCCATCTGGCATTTGGGAAAGCATACGGCGGGGACGCGCGAGAAAGGCAGGCGCCCTCCTGTGCCCAAGAGGCCTCATTCCCCACGCCTCCCGCAGATGTTCATCGGAGGTCTGGTGGGCGCCGCGCGGAAGAACCTGGCCTATCGGCATAACTTCCGCGGCTGCATAGAAAACGTAATCTTCAACCGCGTCAACATCGCAGACCTGGCCGTGCGGCGCCATTCCCGGATCACCTTCGAGGCCAGTGGGCAGGGGGGTCTGGGAGGACAGGATATCAAAGCGTCGTGGAAAGCAAAGAGGTGGAGCGGGAAGAGATATTGAACATCAGATAAAAGCGGAGAATCCCTCTGTCCCCAGCCAGATGCTCAAGTTGGGAGGGGAGCGGGTCTCACCTGAGGTGCATGAGCCACGCAGGCCCCTAGTTAAGAAGCAGTGGTCGGGTCCAATCACCTTCTTAGTTCATAGATGAAGAAAGTAAGGCGCAGACACAGGGAGTGGCTTGTCCAGGGGTCGTGCAGCTGCACGGTGGCTGAGTAGGGACTTGAACCGATGGCTTCTCTGATATGCCCCCCTCAACCCTC
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Task1_train_24498
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Gene CNTNAP1 (contactin associated protein 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; Neuropathy, congenital hypomyelinating, 3
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TCTCAAAAAATAAAATAAAAAAAAGAAGCAGAGGGCAGGACGTGGTTACTACTCTCCTCCACCCCCGCAGACCTTCTTTGGTAACGTGAACGAGTCGGCGGTGGTGCGCCATGACCTGCACTTCCACTTCACTGCGCGCTACATCCGCATCGTGCCCCTGGCCTGGAACCCACGCGGCAAGATCGGCCTGAGGCTCGGCCTCTATGGCTGCCCATACAGTAAGTGTGCAGAGAGCGCGGAGGGGGCCTGGGAGACAGCCTCCCCAGTTCCCGGCCCACCTACGGTCCTTTGCGCAGAGGCCGACATACTCTATTTCGACGGCGACGATGCCATCTCCTACCGCTTCCCGCGAGGGGTCAGCCGAAGCCTGTGGGACGTGTTCGCCTTCAGCTTCAAGACCGAGGAGAAGGACGGTCTTCTGCTGCACGCCGAGGGCGCCCAGGGCGACTACGTGACGCTCGAGCTGGAGGGGGCACACCTGCTGCTGCACATGAGCCTGGGTGAGCTCGGCGACCATGTGCGATGCGGAGCCAACCCCTGAAGCTCTCTCACCGCCCTCCTCGTGGCACCTCCTCCGCGCATCCGCGCTCAGCCTGGTCTTCCACTTCTCTAAGGCCTGGACCAAACTGCCCCTTTCTTGTAGCATTTGGTGCTAGCAAAACACTGGAGTTGAGTGAGAACTGGATTCCAGTCTCAGCTCTACCACTACACAGAGATGTGACCTCGGATGGGGCACTTCCGAGCCTCAGTTCCCTCCTTGTAAACACACACACACAGACGCACACACATTGTATCTCATTAGCTTTTCATAACACCCGCACATGAAATAGAAGCAGCTCATGTGTTCCCAGTTTTACAGACAGGAAGCCAGGCTAAATGGCTTACCCTGTCACACACTCGCCAATGGCTGTTGATCTATTCGCCCACTCTCCCTGATTGCCCTGGGCTTTGTTACACGCTGCTGCTCTGCCTAGGAGCTTGGACTCCATGGAGTTCTCCTGGCTTGAGGTTTCACTCTGTCCTGCCCCACCCTCAGGCAGCAGCCCTATCCAGCCAAGACCAGGTCACACCACCGTGAGCGCAGGCGGAGTCCTCAATGACCAGCACTGGCACTATGTGCGGGTGGACCGATTTGGCCGCGATGTAAATTTCACCCTGGACGGCTATGTGCAGCGCTTTATTCTCAATGGAGACTTCGAGAGGCTGAACCTGGACACTGAGGTGAGAGACTAGGGAGGTGCTATTTCGTGGTAGGGTAGATGCTGGATGAGTGAGTGCAGGTCGGTCTCTCCCTTTCTCTTTTCCTCTGTCTCTCAGAGGAAAGACCTGGCATTCAGGCTGTGGGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGCCAGGTGTTCAAGACTCACCTGGGCAACATAGTGACATCCTACCTCTATTTAAAAAAATTTTTTTTTTCAAAGACCTCGCATTCCAATTCCTGAATATCCTAGCAGCCCTTGGCAAACTTGCCACTCACCAGAAAAAGGCCTGTTTTTTTTTTTTTTTTTTTTTTTTGTGGGTGTTGTTGCTGTTAGCATGCAGACTCCCAGGCACTATTTCAGAACTAATGAGATGGGGTTTGGAAATTCAGATTTTGGGGACTAGGCAAGGTAGGAAAATTGTTCCCTTGGATCCTCCCACAACTTTGTGGAGTTGTTAAAGACCCTGACCCCATCTGCAGATAAGAATCCCAGGCAGGCTAATTGACTTGCCCAAGGGCGTGCAGCCGATTTGTGTTGGAGTCAGAGCTTGAACTCAAGCCTTGAAAGGCCTAGCGAGCTTTAGTACCGACACTGGGGAAATGTGTGTTTTAAGTCTTTTACAAAACCCCATCTGGCATTTGGGAAAGCATACGGCGGGGACGCGCGAGAAAGGCAGGCGCCCTCCTGTGCCCAAGAGGCCTCATTCCCCACGCCTCCCGCAGATGTTCATCGGAGGTCTGGTGGGCGCCGCGCGGAAGAACCTGGCCTATCGGCATAACTTCCGCGGCTGCATAGAAAACGTAATCTTCAACCGCGTCAACATCGCAGACCTGGCCGTGCGGCGCCATTCCCGGATCACCTTCGAGGCCAGTGGGCAGGGGGGTCTGGGAGGACAGGATATCAAAGCGTCGTGGAAAGCAAAGAGGTGGAGCGGGAAGAGATATTGAACATCAGATAAAAGCGGAGAATCCCTCTGTCCCCAGCCAGATGCTCAAGTTGGGAGGGGAGCGGGTCTCACCTGAGGTGCATGAGCCACGCAGGCCCCTAGTTAAGAAGCAGTGGTCGGGTCCAATCACCTTCTTAGTTCATAGATGAAGAAAGTAAGGCGCAGACACAGGGAGTGGCTTGTCCAGGGGTCGTGCAGCTGCACGGTGGCTGAGTAGGGACTTGAACCGATGGCTTCTCTGATATGCCCCCCTCAACCCTCTCCGACTCTGGAGCTCTGTTGGGAAGCTGGCAGGAGCCAGGTCTGTGGTCCAAAATTGCCTCTCGATACTGGAAGGAGAGAAGCGGTCGAATCGCAGACGGTGGAGATCAGCGAGAGCAAGCGAGCAGAGTTCCGAGGGCCGACTGGGTTGGGGCCCCCTCCACAGATGGACGAGCTTGGAGGGGAAGAGGTCACGTCATGGTTGGAGATCTCACCCCCGCCAACACCGAAGGAGGGCGGTGACCAGGGTCTTAGACCGGTGTGAAAACTGAATTCCCAGCTGAGGCAGAGGCGGCTCACGGGTGTTGATGCGTCTTCACTTTTGCCCCTAGGGTAAGGTGGCTTTTCGTTGCCTGGACCCGGTACCGCACCCTATCAACTTCGGAGGCCCTCACAACTTCGTTCAAGTGCCCGGTTTCCCACGCCGTGGCCGCCTGGCAGTCTCATTTCGCTTCCGCACCTGGGACCTCACCGGGCTTCTCCTTTTCTCCCGTCTGGGGGACGGGCTGGGCCACGTGGAGCTGACGCTCAGCGAAGGGCAGGTCAACGTGTCCATCGCGCAGAGCGGCCGAAAGAAGCTTCAGTTCGCTGCTGGTGAGGGCGTTTCGGGGGAGGCACAAGAAGAGAAGAGAAGTGTAGAGGATCCCAGGAAAGTTGTAGGCCTGGACTGAGGCCTTTACATTCTGGAGAGGGGAGAGGAGTGAAGGGGGCAGGGCAGGAGGCCCCAGGGTACTGGGAAAAGGTGGGAGTGGCTAGAGGCAGTGAGGAGGCGAATCTGAGGGACTAAGTATTCTTGGAGAAGGGGGAAGCCTGGGAGTCCTGGTATTCTCCAGTTCCAGAAGGCCCCTGGAGATTTGGTTACTCGTTTATAACTGTGCAGACTCTGTGGCAGTTGCTGGGTCATGGATAATGAAGAGACATTCAGAGAGGTCTCCACTGGGTGTGAGAAGTGTAATCACGGGGGCACACAGGCTGCTACTGGGACACAGTGGGGCTGCTGCTTCCCCACTCAGAACATTCTTCTACCCTAGTTGCTGCTTCCCTCCACCCACACCATCATCCATTCTTGTCCAGGGTACCGACTGAATGACGGCTTTTGGCACGAGGTGAATTTTGTGGCACAGGAAAACCATGCAGTTATCAGCATTGATGATGTGGAAGGGGCAGAGGTCAGGGTCTCATACCCGTTGCTGATCCGGACAGGGACCTCATATTTCTTTGGGGGTAAGTGGGGGCCAACCTGACCAGACCTCTGTTTCTGGGTGGGAAGGCTCCATCTAAGTCCACCCAGATGGGGCCACATGGAGAATTTTGGAGGGATCAAGCCCTCTTCCCCTCTGGGGCCTCAGGGAGTGGAAGGTCATTGCCATCTACACTTTGGTTGTAGTCCCCTTTCTTCCTTTATGTCTGGCTCCCCCTCAGCATGTCCCTGGGGGAGGGTCTTTGGGGTCTCCCCTGGGGAGGATCTCACAGGGGTGGTTGCTCCAGGTTGTCCCAAGCCAGCCAGTCGATGGGACTGCCACTCCAACCAGACGGCATTCCATGGCTGCATGGAGCTGCTCAAGGTGGATGGTCAACTGGTCAACCTGACTCTGGTGGAGGGCCGGCGGCTTGGATTCTATGCTGAGG
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TCTCAAAAAATAAAATAAAAAAAAGAAGCAGAGGGCAGGACGTGGTTACTACTCTCCTCCACCCCCGCAGACCTTCTTTGGTAACGTGAACGAGTCGGCGGTGGTGCGCCATGACCTGCACTTCCACTTCACTGCGCGCTACATCCGCATCGTGCCCCTGGCCTGGAACCCACGCGGCAAGATCGGCCTGAGGCTCGGCCTCTATGGCTGCCCATACAGTAAGTGTGCAGAGAGCGCGGAGGGGGCCTGGGAGACAGCCTCCCCAGTTCCCGGCCCACCTACGGTCCTTTGCGCAGAGGCCGACATACTCTATTTCGACGGCGACGATGCCATCTCCTACCGCTTCCCGCGAGGGGTCAGCCGAAGCCTGTGGGACGTGTTCGCCTTCAGCTTCAAGACCGAGGAGAAGGACGGTCTTCTGCTGCACGCCGAGGGCGCCCAGGGCGACTACGTGACGCTCGAGCTGGAGGGGGCACACCTGCTGCTGCACATGAGCCTGGGTGAGCTCGGCGACCATGTGCGATGCGGAGCCAACCCCTGAAGCTCTCTCACCGCCCTCCTCGTGGCACCTCCTCCGCGCATCCGCGCTCAGCCTGGTCTTCCACTTCTCTAAGGCCTGGACCAAACTGCCCCTTTCTTGTAGCATTTGGTGCTAGCAAAACACTGGAGTTGAGTGAGAACTGGATTCCAGTCTCAGCTCTACCACTACACAGAGATGTGACCTCGGATGGGGCACTTCCGAGCCTCAGTTCCCTCCTTGTAAACACACACACACAGACGCACACACATTGTATCTCATTAGCTTTTCATAACACCCGCACATGAAATAGAAGCAGCTCATGTGTTCCCAGTTTTACAGACAGGAAGCCAGGCTAAATGGCTTACCCTGTCACACACTCGCCAATGGCTGTTGATCTATTCGCCCACTCTCCCTGATTGCCCTGGGCTTTGTTACACGCTGCTGCTCTGCCTAGGAGCTTGGACTCCATGGAGTTCTCCTGGCTTGAGGTTTCACTCTGTCCTGCCCCACCCTCAGGCAGCAGCCCTATCCAGCCAAGACCAGGTCACACCACCGTGAGCGCAGGCGGAGTCCTCAATGACCAGCACTGGCACTATGTGCGGGTGGACCGATTTGGCCGCGATGTAAATTTCACCCTGGACGGCTATGTGCAGCGCTTTATTCTCAATGGAGACTTCGAGAGGCTGAACCTGGACACTGAGGTGAGAGACTAGGGAGGTGCTATTTCGTGGTAGGGTAGATGCTGGATGAGTGAGTGCAGGTCGGTCTCTCCCTTTCTCTTTTCCTCTGTCTCTCAGAGGAAAGACCTGGCATTCAGGCTGTGGGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGCCAGGTGTTCAAGACTCACCTGGGCAACATAGTGACATCCTACCTCTATTTAAAAAAATTTTTTTTTTCAAAGACCTCGCATTCCAATTCCTGAATATCCTAGCAGCCCTTGGCAAACTTGCCACTCACCAGAAAAAGGCCTGTTTTTTTTTTTTTTTTTTTTTTTTGTGGGTGTTGTTGCTGTTAGCATGCAGACTCCCAGGCACTATTTCAGAACTAATGAGATGGGGTTTGGAAATTCAGATTTTGGGGACTAGGCAAGGTAGGAAAATTGTTCCCTTGGATCCTCCCACAACTTTGTGGAGTTGTTAAAGACCCTGACCCCATCTGCAGATAAGAATCCCAGGCAGGCTAATTGACTTGCCCAAGGGCGTGCAGCCGATTTGTGTTGGAGTCAGAGCTTGAACTCAAGCCTTGAAAGGCCTAGCGAGCTTTAGTACCGACACTGGGGAAATGTGTGTTTTAAGTCTTTTACAAAACCCCATCTGGCATTTGGGAAAGCATACGGCGGGGACGCGCGAGAAAGGCAGGCGCCCTCCTGTGCCCAAGAGGCCTCATTCCCCACGCCTCCCGCAGATGTTCATCGGAGGTCTGGTGGGCGCCGCGCGGAAGAACCTGGCCTATCGGCATAACTTCCGCGGCCGCATAGAAAACGTAATCTTCAACCGCGTCAACATCGCAGACCTGGCCGTGCGGCGCCATTCCCGGATCACCTTCGAGGCCAGTGGGCAGGGGGGTCTGGGAGGACAGGATATCAAAGCGTCGTGGAAAGCAAAGAGGTGGAGCGGGAAGAGATATTGAACATCAGATAAAAGCGGAGAATCCCTCTGTCCCCAGCCAGATGCTCAAGTTGGGAGGGGAGCGGGTCTCACCTGAGGTGCATGAGCCACGCAGGCCCCTAGTTAAGAAGCAGTGGTCGGGTCCAATCACCTTCTTAGTTCATAGATGAAGAAAGTAAGGCGCAGACACAGGGAGTGGCTTGTCCAGGGGTCGTGCAGCTGCACGGTGGCTGAGTAGGGACTTGAACCGATGGCTTCTCTGATATGCCCCCCTCAACCCTCTCCGACTCTGGAGCTCTGTTGGGAAGCTGGCAGGAGCCAGGTCTGTGGTCCAAAATTGCCTCTCGATACTGGAAGGAGAGAAGCGGTCGAATCGCAGACGGTGGAGATCAGCGAGAGCAAGCGAGCAGAGTTCCGAGGGCCGACTGGGTTGGGGCCCCCTCCACAGATGGACGAGCTTGGAGGGGAAGAGGTCACGTCATGGTTGGAGATCTCACCCCCGCCAACACCGAAGGAGGGCGGTGACCAGGGTCTTAGACCGGTGTGAAAACTGAATTCCCAGCTGAGGCAGAGGCGGCTCACGGGTGTTGATGCGTCTTCACTTTTGCCCCTAGGGTAAGGTGGCTTTTCGTTGCCTGGACCCGGTACCGCACCCTATCAACTTCGGAGGCCCTCACAACTTCGTTCAAGTGCCCGGTTTCCCACGCCGTGGCCGCCTGGCAGTCTCATTTCGCTTCCGCACCTGGGACCTCACCGGGCTTCTCCTTTTCTCCCGTCTGGGGGACGGGCTGGGCCACGTGGAGCTGACGCTCAGCGAAGGGCAGGTCAACGTGTCCATCGCGCAGAGCGGCCGAAAGAAGCTTCAGTTCGCTGCTGGTGAGGGCGTTTCGGGGGAGGCACAAGAAGAGAAGAGAAGTGTAGAGGATCCCAGGAAAGTTGTAGGCCTGGACTGAGGCCTTTACATTCTGGAGAGGGGAGAGGAGTGAAGGGGGCAGGGCAGGAGGCCCCAGGGTACTGGGAAAAGGTGGGAGTGGCTAGAGGCAGTGAGGAGGCGAATCTGAGGGACTAAGTATTCTTGGAGAAGGGGGAAGCCTGGGAGTCCTGGTATTCTCCAGTTCCAGAAGGCCCCTGGAGATTTGGTTACTCGTTTATAACTGTGCAGACTCTGTGGCAGTTGCTGGGTCATGGATAATGAAGAGACATTCAGAGAGGTCTCCACTGGGTGTGAGAAGTGTAATCACGGGGGCACACAGGCTGCTACTGGGACACAGTGGGGCTGCTGCTTCCCCACTCAGAACATTCTTCTACCCTAGTTGCTGCTTCCCTCCACCCACACCATCATCCATTCTTGTCCAGGGTACCGACTGAATGACGGCTTTTGGCACGAGGTGAATTTTGTGGCACAGGAAAACCATGCAGTTATCAGCATTGATGATGTGGAAGGGGCAGAGGTCAGGGTCTCATACCCGTTGCTGATCCGGACAGGGACCTCATATTTCTTTGGGGGTAAGTGGGGGCCAACCTGACCAGACCTCTGTTTCTGGGTGGGAAGGCTCCATCTAAGTCCACCCAGATGGGGCCACATGGAGAATTTTGGAGGGATCAAGCCCTCTTCCCCTCTGGGGCCTCAGGGAGTGGAAGGTCATTGCCATCTACACTTTGGTTGTAGTCCCCTTTCTTCCTTTATGTCTGGCTCCCCCTCAGCATGTCCCTGGGGGAGGGTCTTTGGGGTCTCCCCTGGGGAGGATCTCACAGGGGTGGTTGCTCCAGGTTGTCCCAAGCCAGCCAGTCGATGGGACTGCCACTCCAACCAGACGGCATTCCATGGCTGCATGGAGCTGCTCAAGGTGGATGGTCAACTGGTCAACCTGACTCTGGTGGAGGGCCGGCGGCTTGGATTCTATGCTGAGG
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Task1_train_24499
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Assess the clinical impact of this variant on gene CNTNAP1 (contactin associated protein 1), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; not provided
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ATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCACCACCCCGGCCTCCCAAAGTGCTGGGATTACAGGCCCGAGCCGCCGCACCTGGCCAGCCCTCTAACTCTCTAACTGCCTTTGTCTCAACCTATTATCTGCCAGCTTTGTATAAGGAATCCTGTGAGGCTTATCGGCTCAGTGGGAAAACTTCTGGAAACTTCACCATTGATCCTGATGGCAGTGGCCCCCTGAAGCCATTTGTAGTGTACTGTGATATCCGAGGTAAGTGTCTCTGTTGGGTGGTGAGGGGGTGAGGGGAGAACCAGGAAGGATAGAGTGGTGGGTGGGGGCCAGTTAGACTAAACAAGTGAGGGTAAAGGAGGACAGAGGGGAAGGGCATACTGAGGAATTTGTAACCTAGCCTTAAAAGTAAATCCCAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATAGCGCCATTGGACTCCAGCCTGGGCAACAGAGCGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAGTATATCCCAGCTTCCTTACCCATTCCAGCTATCTTATTTCCAGCCTACAATGCAGAGTGCCCAGGGCAGAGGTGGAATGGAGCTGCTGGCCACGTTCAGTGGCTCTGAGTTGCAGCAGCGGTGGTGGAGGTGGGCAGGGAGATGGGTAGAGAATGCCCAACTCCAGCCAAAGCTCTGTCCCCTCTTGTCTGCCAGAGAACCGAGCGTGGACAGTTGTGCGGCATGACAGGCTGTGGACAACTCGAGTGACAGGTTCCAGCATGGAGCGGCCATTCCTGGGGGCTATCCAGTACTGGAATGCATCCTGGGAGGAAGTCAGTGCCCTTGCCAATGCTTCCCAGCATTGTGAACAGTGGATCGAGTTCTCCTGCTACAATTCCCGGCTGCTCAACACTGCAGGTTAGGGCTGGGGTCAGGGAGGTGGCGGAACTGGAGGAGACACCAATGGGGGCCTGGGAGAAGGAAGCCAGAGAGCCAGCTGGGGCCTTGGGTTGGAAGATTCAAGGAGGGGTCTGAACTCGCTGGAAGGGCGAGAGGAGCCCAGAGGCTAATGGAGGGACAGGGCCTGGAAGCTGCCTGCACCTCTTCCCCAGGAGGCTACCCCTACAGCTTTTGGATTGGCCGAAATGAGGAGCAGCACTTCTACTGGGGAGGCTCCCAGCCTGGGATCCAGCGCTGTGCCTGTGGTCTGGACCGGAGCTGTGTGGACCCTGCCTTGTACTGCAACTGTGACGCTGACCAGCCCCAGTGGTGAGGGGGCAAAGGGACAGGGTTTTTAGGACTCCGGGAGTGGGAGGAGCTGAGTGGCTGGGGCTGAGCCATGACATCCTGCCCCCACAGGAGAACTGACAAGGGACTGCTGACCTTTGTGGACCATCTGCCTGTCACTCAGGTAGTGATAGGGGATACGAACCGCTCCACTTCTGAGGCCCAGTTCTTCCTGAGGCCTCTGCGCTGCTATGGCGATCGTGAGTGGCAGTCCCCTTTTGTGTGCCCTCCCAGAGCTGACTCTCCAGTTTCCAAAATCTAGGCCGCATGTCACTGGTGGTCTCTAGCTGGGGTGCCCGACCCCCAGCTCCTGCTGTGATGCGATCTCATTACCCCTCTGCACCTGGCTCCTCTTTCATTCCACTCCTTAGTCTCCCCTCCGTCACCTCAAACCCTCCCCCTTTGCCCAACCTTCCCTGCCCCCAACCCCAGGTTCTCTTCCTCCTCCACCCTCCAATCTCCCTGACAAGACCTTCCTCCATCTGCTTTTCTAGGAAATTCCTGGAACACCATTTCCTTCCACACCGGGGCTGCACTACGCTTCCCCCCAATCCGTGCCAACCACAGCCTGGATGTCTCCTTCTACTTCAGGACCTCTGCTCCCTCGGGGGTCTTCCTAGAGAATATGGGGGGCCCTTACTGCCAGTGGCGCCGACCTTATGTGCGGGTGGAACTCAACAGTGAGCAGGCAGACTGTGGGAGGGCCTCGGGGTAGATGAAAGTGCTGTCTGGGGAGACAGGGGTAGGCTGGGGTTGGAGCCAAGGGCAGATGCCCTTTTGACAGGCAGCATGGGAAGGGTTGAGATACCCTATGTTCTAGCCCTCACTCGGTCTTGACGGCTGGCTGGGTGACCCTAGGCATTCACTTGGCCTCTCTTGGCCTTAAGCCCCTTCCTTGTGCCATAAGGAAGCTGGACCTTCGAGTCCCTCTCACCGCTGATTAGCCATGCTTCTAGCCTGGGAAGTGAGGCTGGGAAGCTGGCTTCAGGGATCTGTGATGTGGGGAGAGACAAAGGGTATGAGGTTTTTAAGCAGCTGGTAAGTTTCAATGCAAGCTACAGACAAATTGGAGGGATATTCAAGAAGCTCCAAAGAGGTGAGGGAAAGAGGTTATATTGGGCAAGGATCTATGAAGGGTCTTGTAGGTCTGAGTCCTTTTCTCCCCTACCCTGCATCACACTGTCCAGCATCCCGGGATGTGGTCTTCGCCTTTGATGTGGGGAATGGGGATGAGAACCTCACAGTACACTCAGACGACTTTGAGTTCAATGATGACGAGTGGCACCTGGTCCGGGCTGAAATCAACGTGAAGCAGGCCCGGCTCCGAGTGGATCACCGGCCCTGGGTTCTGCGGCCTATGCCACTGCAGACCTACATCTGGATGGAGTATGACCAGCCCCTCTATGTGGGTAAGCAGCAACCCAGAGGCAAGTCTGAAGCCTCCTTTACCTCCCCATCCTCCAAGGCCACTCGCCTTGTTTCCAGGAGCCTCCTGTCTTAGGTGCCAGTCCCCTCTGCTTCAGAGCAAGCCAGTGTCTCACTTGTCCCTCCAGGCCTTTGTATCCTATTCTATTCTTCCAGCCCTCTTGGCTCCCTTTCCAACTACAATACTTCATCCTGTCTCTGGCTCTGCCTCCATTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCCCACTGCAAGCTCCGCCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGTGCCCAGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCATCATGTTAGCCAGGATGGTCTCGATCTCCTGAGCTCGTGATTCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCTGCCTCCATTTCTTGACCTGTTGCCTACCCTTCCCAGGATCTGCAGAGCTTAAGAGACGCCCCTTTGTGGGTTGCTTGAGGGCCATGCGTCTGAACGGAGTGACTCTGAACCTGGAGGGCCGTGCCAATGCCTCTGAGGGTACCTCACCCAACTGCACAGGCCACTGTGCCCACCCTCGGCTCCCCTGTTTCCATGGAGGCCGCTGCGTGGAGCGCTATAGCTACTACACGTGTGACTGTGACCTCACGGCTTTTGATGGGCCATACTGCAACCACGGTAAGTGCTGCTGGTTATGGGGCAACAGGGAGCCATAGGGTGTAATGGGATGTAGGGAGGGCAGGGAAGGAAATAGCATGTAAAGCCCATATCATGGAAAATTAGAGTTGTCCCTGGATTCCTGAGCTCTGAGTTTGGGGAGTTAGGCAGTTGAAGATCATGGGTGACTCCAAAGGCATGGACAAGGAAGGGATGGTACAGATAGCTGGTGCAAAAATATCTCAAAATCACCAAGTATGCTTTGGGAGCCCAAGGTGGGAGGATTGCTTGAGGCTAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACAAAAAAAATTCTTTTTTTTTTTATGAGATGGAATCTCGCTCTGTCACCCAGGCTAGAGTACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTGGTTCAAGCGATTCTTTTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGATGTGCACCACCATGCCTGG
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ATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCACCACCCCGGCCTCCCAAAGTGCTGGGATTACAGGCCCGAGCCGCCGCACCTGGCCAGCCCTCTAACTCTCTAACTGCCTTTGTCTCAACCTATTATCTGCCAGCTTTGTATAAGGAATCCTGTGAGGCTTATCGGCTCAGTGGGAAAACTTCTGGAAACTTCACCATTGATCCTGATGGCAGTGGCCCCCTGAAGCCATTTGTAGTGTACTGTGATATCCGAGGTAAGTGTCTCTGTTGGGTGGTGAGGGGGTGAGGGGAGAACCAGGAAGGATAGAGTGGTGGGTGGGGGCCAGTTAGACTAAACAAGTGAGGGTAAAGGAGGACAGAGGGGAAGGGCATACTGAGGAATTTGTAACCTAGCCTTAAAAGTAAATCCCAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATAGCGCCATTGGACTCCAGCCTGGGCAACAGAGCGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAGTATATCCCAGCTTCCTTACCCATTCCAGCTATCTTATTTCCAGCCTACAATGCAGAGTGCCCAGGGCAGAGGTGGAATGGAGCTGCTGGCCACGTTCAGTGGCTCTGAGTTGCAGCAGCGGTGGTGGAGGTGGGCAGGGAGATGGGTAGAGAATGCCCAACTCCAGCCAAAGCTCTGTCCCCTCTTGTCTGCCAGAGAACCGAGCGTGGACAGTTGTGCGGCATGACAGGCTGTGGACAACTCGAGTGACAGGTTCCAGCATGGAGCGGCCATTCCTGGGGGCTATCCAGTACTGGAATGCATCCTGGGAGGAAGTCAGTGCCCTTGCCAATGCTTCCCAGCATTGTGAACAGTGGATCGAGTTCTCCTGCTACAATTCCCGGCTGCTCAACACTGCAGGTTAGGGCTGGGGTCAGGGAGGTGGCGGAACTGGAGGAGACACCAATGGGGGCCTGGGAGAAGGAAGCCAGAGAGCCAGCTGGGGCCTTGGGTTGGAAGATTCAAGGAGGGGTCTGAACTCGCTGGAAGGGCGAGAGGAGCCCAGAGGCTAATGGAGGGACAGGGCCTGGAAGCTGCCTGCACCTCTTCCCCAGGAGGCTACCCCTACAGCTTTTGGATTGGCCGAAATGAGGAGCAGCACTTCTACTGGGGAGGCTCCCAGCCTGGGATCCAGCGCTGTGCCTGTGGTCTGGACCGGAGCTGTGTGGACCCTGCCTTGTACTGCAACTGTGACGCTGACCAGCCCCAGTGGTGAGGGGGCAAAGGGACAGGGTTTTTAGGACTCCGGGAGTGGGAGGAGCTGAGTGGCTGGGGCTGAGCCATGACATCCTGCCCCCACAGGAGAACTGACAAGGGACTGCTGACCTTTGTGGACCATCTGCCTGTCACTCAGGTAGTGATAGGGGATACGAACCGCTCCACTTCTGAGGCCCAGTTCTTCCTGAGGCCTCTGCGCTGCTATGGCGATCGTGAGTGGCAGTCCCCTTTTGTGTGCCCTCCCAGAGCTGACTCTCCAGTTTCCAAAATCTAGGCCGCATGTCACTGGTGGTCTCTAGCTGGGGTGCCCGACCCCCAGCTCCTGCTGTGATGCGATCTCATTACCCCTCTGCACCTGGCTCCTCTTTCATTCCACTCCTTAGTCTCCCCTCCGTCACCTCAAACCCTCCCCCTTTGCCCAACCTTCCCTGCCCCCAACCCCAGGTTCTCTTCCTCCTCCACCCTCCAATCTCCCTGACAAGACCTTCCTCCATCTGCTTTTCTAGGAAATTCCTGGAACACCATTTCCTTCCACACCGGGGCTGCACTACGCTTCCCCCCAATCCGTGCCAACCACAGCCTGGATGTCTCCTTCTACTTCAGGACCTCTGCTCCCTCGGGGGTCTTCCTAGAGAATATGGGGGGCCCTTACTGCCAGTGGCGCCGACCTTATGTGTGGGTGGAACTCAACAGTGAGCAGGCAGACTGTGGGAGGGCCTCGGGGTAGATGAAAGTGCTGTCTGGGGAGACAGGGGTAGGCTGGGGTTGGAGCCAAGGGCAGATGCCCTTTTGACAGGCAGCATGGGAAGGGTTGAGATACCCTATGTTCTAGCCCTCACTCGGTCTTGACGGCTGGCTGGGTGACCCTAGGCATTCACTTGGCCTCTCTTGGCCTTAAGCCCCTTCCTTGTGCCATAAGGAAGCTGGACCTTCGAGTCCCTCTCACCGCTGATTAGCCATGCTTCTAGCCTGGGAAGTGAGGCTGGGAAGCTGGCTTCAGGGATCTGTGATGTGGGGAGAGACAAAGGGTATGAGGTTTTTAAGCAGCTGGTAAGTTTCAATGCAAGCTACAGACAAATTGGAGGGATATTCAAGAAGCTCCAAAGAGGTGAGGGAAAGAGGTTATATTGGGCAAGGATCTATGAAGGGTCTTGTAGGTCTGAGTCCTTTTCTCCCCTACCCTGCATCACACTGTCCAGCATCCCGGGATGTGGTCTTCGCCTTTGATGTGGGGAATGGGGATGAGAACCTCACAGTACACTCAGACGACTTTGAGTTCAATGATGACGAGTGGCACCTGGTCCGGGCTGAAATCAACGTGAAGCAGGCCCGGCTCCGAGTGGATCACCGGCCCTGGGTTCTGCGGCCTATGCCACTGCAGACCTACATCTGGATGGAGTATGACCAGCCCCTCTATGTGGGTAAGCAGCAACCCAGAGGCAAGTCTGAAGCCTCCTTTACCTCCCCATCCTCCAAGGCCACTCGCCTTGTTTCCAGGAGCCTCCTGTCTTAGGTGCCAGTCCCCTCTGCTTCAGAGCAAGCCAGTGTCTCACTTGTCCCTCCAGGCCTTTGTATCCTATTCTATTCTTCCAGCCCTCTTGGCTCCCTTTCCAACTACAATACTTCATCCTGTCTCTGGCTCTGCCTCCATTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCCCACTGCAAGCTCCGCCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGTGCCCAGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCATCATGTTAGCCAGGATGGTCTCGATCTCCTGAGCTCGTGATTCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCTGCCTCCATTTCTTGACCTGTTGCCTACCCTTCCCAGGATCTGCAGAGCTTAAGAGACGCCCCTTTGTGGGTTGCTTGAGGGCCATGCGTCTGAACGGAGTGACTCTGAACCTGGAGGGCCGTGCCAATGCCTCTGAGGGTACCTCACCCAACTGCACAGGCCACTGTGCCCACCCTCGGCTCCCCTGTTTCCATGGAGGCCGCTGCGTGGAGCGCTATAGCTACTACACGTGTGACTGTGACCTCACGGCTTTTGATGGGCCATACTGCAACCACGGTAAGTGCTGCTGGTTATGGGGCAACAGGGAGCCATAGGGTGTAATGGGATGTAGGGAGGGCAGGGAAGGAAATAGCATGTAAAGCCCATATCATGGAAAATTAGAGTTGTCCCTGGATTCCTGAGCTCTGAGTTTGGGGAGTTAGGCAGTTGAAGATCATGGGTGACTCCAAAGGCATGGACAAGGAAGGGATGGTACAGATAGCTGGTGCAAAAATATCTCAAAATCACCAAGTATGCTTTGGGAGCCCAAGGTGGGAGGATTGCTTGAGGCTAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACAAAAAAAATTCTTTTTTTTTTTATGAGATGGAATCTCGCTCTGTCACCCAGGCTAGAGTACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTGGTTCAAGCGATTCTTTTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGATGTGCACCACCATGCCTGG
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Subsets and Splits
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