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_12800
|
A variant affecting Chromosome 9, within the gene VCP (valosin containing protein), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
|
AAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTCTGGCTCCAACTATTCCTCTCTCCCGGGTTAACTTAGGGGCTTAAAAGACCTGCTAGCAGCTCACCTTCCATGCCCATACCCCCACCTCATTCCAACCCCAACACAAGCCATCAATTAGACATACTAGTGAGAGTAGTGAGGAGATTATTTGGCATATACATACACACCCTCGAGTGGTATCCTAAGCCAGGATATAAGTATGATAAATTACACCTCTAGTAGGAAAAAATAAAGCCATCAAGAAAGTTACAGGAACGCCAATTTGTCTCAAGGGACCTGCAGAAATGGATTTTGAAGTCCCAGGGAGGCAGAACCAAAACCTAAAGACAACCCTGAAGCATAAGTCTTCCCATGACCAGGAGGCTTCCTGCATCGACAGGTGCCAAGAACTTGGTCCTGCCTGTAATACATGGGTCCTGCCTGTAATGCAGGCTATCTCTGGCCTCCCATCCCTGTGAAGCCAAAAACCCCACACACACCTGATGACATCCCCTAGGCGTACACGAAGGTTATTCCGAACAACTCTATTCATCCGAATCTTCTCATCAGAACAAGTATCATCAGAAAGGACGATGCAAACAGCTTCTCGTCTCTTCTTTCCTTTCAGCAACACTGTGTCACCTCGGAACAACTGCAATTCATCCATCTTGGGCTGAGGAAAGAAAGTTAAGGCCTTTGGGTCATTGGGCTGACGGGGAGTAAGCAGCAGCCCTGGAGATTGGGATTCCCAGTAAACCCCACTCTATCTGCAGTCACTGCAAGAAAAATGAGAAAAGAAACCTGGGAAAATCCCTCAAGTAAGTGCAGTAAGGAAAGACTAGTCTGTGGCCACAGCTTACCTGGGACAAGGACACCACACTGTTGTCCTCATTGATGGCTTCATCAACAATTAACCGATTGGGACGGTTCTTCTGTTTGAGAATGGCTGTTGATAGGTCATCACCTTTTGAACTAGAAGGAGGAAATGGAGTCAGTAGATACTCCTGCCCCAAGCGCCTCGCCAGTCTCTAAAACTCATACTTAGGAAAGAAACAGTGAATAGATGAAGCTGTCCCTAGACCAGAAAGCTCAGATGAAGGAAAGGCAGCCAAGGTCACGAGGAGCAGTATCTACCATACATATTACAATACCCATTCCAGCAGCTCCTGGTATTTTGAGCGTCAGTGTCCCAGCTATAAGGCCCCAAGTGAGTGATCCTGCCCCAGGGTCAGAAAATAATGGCCTAAGAAGAAGACATAATAGAAATGGAGGCTGAATAGTTGTTAGAGAAATAAAAATAGTCTTAGACTTACAGAAGAGTGGTTAAGAGCAGGAACTCTATAGTCAGACCCATTGGGTCTGAATTCCAATTATGCCACTGCTTAATTGTGATCTTGGGCAAGTTACCTAACCTCTGAACTTTGATGTCCTCCTCTATAAAAGAAGGAATATAATACTTATCTCAGAGGCTTATTGTCTTAAGGGAGATAATGAATGTAAAATGCTTAACATAATACCTGGCACATGGTATTAATGGTCACCATGATTAACAGTATAGAGTAAAGCATAAGCTAACTTTCCAGGGAATTAAGTAAGCCAGACAACCTCCCTTGAGGCTCAGGGAGGCCTTAAGTTCTACCAAGCAAGCCTGGGGACAACGAAGCAGAATCATTGGTGCTACCCTCCTTATAGGCTAAACCTACTGATGCCAGGGCATTCCATAGTACCAAAGGAATGCCAAGCATAAAGACCATCATATTTGGAAAAAACACTAACAGACATCAAACCGCCAGAAAGAGGCTCAAGGTCAAAAGGAACTTCACAGTAATATCTGCAAAAGTACACAATTCCATAAAGTTGGCTCAAAAAATCAAAACCAAGAAATGCTGAGACATGGGGCAAATCCAAATCCCTCTCACCCAAATCAAAGTCGACTGGGTCTACACTCAGTGTTATTTCCTAGAAGCTAGGATCATTCACCAGACAGTGACACCAACTTATTACCTAGCCCGTTTCCAGCTGTCACTTACTAGACTCAGCAAGCTCCCTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGTCCAGGCTGGAATGCAATGCTGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGCATTTTTACTAGAGATGGGGTTTCACCATGGTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACAGCACCCAGCGCTCTCTCTTTTTTAAGAGCGGCCTCGTGTTAGTAAGGCTCAGGAAAACATAAGCATTAACCAAAGTAGGAAGGCCAGACAATGAAGGAAGCAAAGAAAATAAATTTTTAAAACGAATTTCTTCATTCAACAAATTCATGAGTCTCTATTATGTACCAGGCATTGTTCTAAGGGCTGGGGATACTGAAGTCAACAAAACAAGACAAAATAGTATTCCCA
|
AAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTCTGGCTCCAACTATTCCTCTCTCCCGGGTTAACTTAGGGGCTTAAAAGACCTGCTAGCAGCTCACCTTCCATGCCCATACCCCCACCTCATTCCAACCCCAACACAAGCCATCAATTAGACATACTAGTGAGAGTAGTGAGGAGATTATTTGGCATATACATACACACCCTCGAGTGGTATCCTAAGCCAGGATATAAGTATGATAAATTACACCTCTAGTAGGAAAAAATAAAGCCATCAAGAAAGTTACAGGAACGCCAATTTGTCTCAAGGGACCTGCAGAAATGGATTTTGAAGTCCCAGGGAGGCAGAACCAAAACCTAAAGACAACCCTGAAGCATAAGTCTTCCCATGACCAGGAGGCTTCCTGCATCGACAGGTGCCAAGAACTTGGTCCTGCCTGTAATACATGGGTCCTGCCTGTAATGCAGGCTATCTCTGGCCTCCCATCCCTGTGAAGCCAAAAACCCCACACACACCTGATGACATCCCCTAGGCGTACACGAAGGTAATTCCGAACAACTCTATTCATCCGAATCTTCTCATCAGAACAAGTATCATCAGAAAGGACGATGCAAACAGCTTCTCGTCTCTTCTTTCCTTTCAGCAACACTGTGTCACCTCGGAACAACTGCAATTCATCCATCTTGGGCTGAGGAAAGAAAGTTAAGGCCTTTGGGTCATTGGGCTGACGGGGAGTAAGCAGCAGCCCTGGAGATTGGGATTCCCAGTAAACCCCACTCTATCTGCAGTCACTGCAAGAAAAATGAGAAAAGAAACCTGGGAAAATCCCTCAAGTAAGTGCAGTAAGGAAAGACTAGTCTGTGGCCACAGCTTACCTGGGACAAGGACACCACACTGTTGTCCTCATTGATGGCTTCATCAACAATTAACCGATTGGGACGGTTCTTCTGTTTGAGAATGGCTGTTGATAGGTCATCACCTTTTGAACTAGAAGGAGGAAATGGAGTCAGTAGATACTCCTGCCCCAAGCGCCTCGCCAGTCTCTAAAACTCATACTTAGGAAAGAAACAGTGAATAGATGAAGCTGTCCCTAGACCAGAAAGCTCAGATGAAGGAAAGGCAGCCAAGGTCACGAGGAGCAGTATCTACCATACATATTACAATACCCATTCCAGCAGCTCCTGGTATTTTGAGCGTCAGTGTCCCAGCTATAAGGCCCCAAGTGAGTGATCCTGCCCCAGGGTCAGAAAATAATGGCCTAAGAAGAAGACATAATAGAAATGGAGGCTGAATAGTTGTTAGAGAAATAAAAATAGTCTTAGACTTACAGAAGAGTGGTTAAGAGCAGGAACTCTATAGTCAGACCCATTGGGTCTGAATTCCAATTATGCCACTGCTTAATTGTGATCTTGGGCAAGTTACCTAACCTCTGAACTTTGATGTCCTCCTCTATAAAAGAAGGAATATAATACTTATCTCAGAGGCTTATTGTCTTAAGGGAGATAATGAATGTAAAATGCTTAACATAATACCTGGCACATGGTATTAATGGTCACCATGATTAACAGTATAGAGTAAAGCATAAGCTAACTTTCCAGGGAATTAAGTAAGCCAGACAACCTCCCTTGAGGCTCAGGGAGGCCTTAAGTTCTACCAAGCAAGCCTGGGGACAACGAAGCAGAATCATTGGTGCTACCCTCCTTATAGGCTAAACCTACTGATGCCAGGGCATTCCATAGTACCAAAGGAATGCCAAGCATAAAGACCATCATATTTGGAAAAAACACTAACAGACATCAAACCGCCAGAAAGAGGCTCAAGGTCAAAAGGAACTTCACAGTAATATCTGCAAAAGTACACAATTCCATAAAGTTGGCTCAAAAAATCAAAACCAAGAAATGCTGAGACATGGGGCAAATCCAAATCCCTCTCACCCAAATCAAAGTCGACTGGGTCTACACTCAGTGTTATTTCCTAGAAGCTAGGATCATTCACCAGACAGTGACACCAACTTATTACCTAGCCCGTTTCCAGCTGTCACTTACTAGACTCAGCAAGCTCCCTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGTCCAGGCTGGAATGCAATGCTGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGCATTTTTACTAGAGATGGGGTTTCACCATGGTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACAGCACCCAGCGCTCTCTCTTTTTTAAGAGCGGCCTCGTGTTAGTAAGGCTCAGGAAAACATAAGCATTAACCAAAGTAGGAAGGCCAGACAATGAAGGAAGCAAAGAAAATAAATTTTTAAAACGAATTTCTTCATTCAACAAATTCATGAGTCTCTATTATGTACCAGGCATTGTTCTAAGGGCTGGGGATACTGAAGTCAACAAAACAAGACAAAATAGTATTCCCA
|
Task1_train_12801
|
The gene FANCG (FA complementation group G) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Fanconi anemia complementation group G
|
CCAGCCGGGCCTGCCGGGTCCACGGCCCCTCACTCGCCCCCTAGCTTCCCTTCCCTCTTTCCTGGTCTCCACCTCTCTGACGCGCCCACGGCCAGGCCCCGCCGGGCCTACCCTGCGCGGCTGGTCCCGGTGCGCGCCGCCGCAGCAAGCGAACGGCGCGCGCACACTCACTCGGCTCCAGAAGCCATGGCGCGCGCCTCTCCCGGCCGGCGGCTGTGGCGGCCCGCGGGTAACGGCTACGAGCGGTGGCAAGCGACCGACTGGGCCGGGGCTCGGCTCTTCCAGGCGGTGGGCGAGCAGCGGCGACAAACCCGCAAGCGGCTTCCCTCTCGCTTCCTCCCACCGGCAGCGAGGCGTCGGGCGAACAACGCTGGCTCCTGATCCGCGAGGTGGCAGTGGCAGTGGCAGCGGCAGCGGCAGCGACGACTCAAACGACGGTCGCAGACGCTTCGCTGAGACTGAGCCGAGAAGAGCCGAATCATCGGAAGGGAAGCTGCTCCCACCTCAGCCAATCAGCGCCTGCCCTGCGGACTCTCGCCCGCCTCTCCGCGCCTCTCCCCAGCAACCCGCAGATCACAGCCAATCAGGAAATTCGCTTGCGGCCTGGCTCCCGCCTCAGTGATGCGACACGCCTAGTAACGCCACGTCAATTGGCCGCAACGCTACGCTTCCTCGACGGATTGGAATTCTCAGCCAATCAACGAAAGGAATAGGGCGAGATCGATTAGTGAAAGGAGACCCTTTAATCCCTTAGAGGCGGACTCTCCCACTTGGCTCCAGTTCATTGGCTCCGGAGTTTATCCTCCTGGAAGAACGTGGCACAATAGACTGAACCCTTGTATTAGTCTAGTCCTATTGTGGTAACCCATACACCCATCTTCTCCCAAAACCTGGAGATCTTCTAAGACGCCATCACCACCCTGACACTTCTTGCTCCTTCTCAACGCTGCCTCCAACCACCCCTACTCTGAACTTTCTGACTAGCACCCCACTCCTACCCCATTGTCACTGCACCCTCTGGTAACCCCAATCCCACAGCCTTTGCAGTTTCTCAGCGCTTGTGCCTTTCTTCCTCCCGTCATTAATATTAATACCTTATAATAAGGCACTCAAATCCAGAGAAGTCAAAGGGCAACCACAGAACACACAGCCAATTCAGTAGAACCCAAATTAGCAAGAAAACTGCATATGCTGGGACTTGAAAATCCTTGGGCCCCAAATAACAGGGGTCCCTGTTAGTAGTCAACAGGCAGCTGTTGGTGATATGCTGACTCAATTCACCTTTCACCCTGTACCCACACAGACACATTTGACTAAGACGAGTCGAATTTCTAGAATTTGGAATTAGGAAGGGAGTGAAGAGTTACTCTGAGAGAAACCTGCCTGTCTCTAAGTAACAGGTACCTGCCCTTGTCCTGAGAGGCCTATCTAGACCACCCTTCAGACCCAACTCCACTCATTGTCACTGTCCTGGGCTTTGGGGCTCTGCATTCAGGCAATGTGAAGGACTAAAGCCACTGCCTCCAAAGTGAGGATTCCTGTAGCCCTTTCCTCATACCCAGACTTCAAGTTCATAAGGTAGACGATGTCAGGAAAGGGCATCATAGACAACTAGCACTCAACTAGACGGTCACAAGCCTTCCCACGCAAGTATATGTAGTAGGCAGACGAGATAAATATGAAATTTTACTCGACAACAGAAAAGGAGAAACAGGAAAAAAGGTGCCTCGAGCAAAGTCAATGACTTGGTGGTGGCAGAGATTGTTTCCTCCAAAACGAGAATGGTAGTAACTAGGGCAAATTTCACAGGCCTACCACCAATCTCACCAGTCCAGGAATTATATAGGAATGGTCACATTCCTAATGATGGTGAAGCAGAAAGCCCTCCCCACAGAGAGACAGCCCACTGGGGACCCAGCTCAAGCTCTTCAAAACGTGGCAGCTACAGGTCACAAGACTTTGGCAGAGATGTCCGAAATTCTTCAAGGAAGGCGTCACGATCAGAGGGACGGATCCAGCTCAAATAGCTTTCTAGGTACAGGGGGAGAGACCTGGAGAGAAAGAAGGATGATGCCTAAGGGTGAAAGATTGGCAGAAAGCTGGGCAGCCATACCCCCGCTTTCAGTGTTCACCACCCACAATAGGTCCAAGGACTCTAGGACACCAACTGCCCCTCAGCCCCAAGCCAGCAGGCCTGAGCCTCACCACAGAGCATCTTCATGTGACCCCTTAGTTTGGGCCTCCAGCCTCCACCAGAGTGCAGTGGCCTCATCCCTCCGATCTAGCCTCTTCAGAGTCTGAAGCAGGTGAAAGTAAGTGTCTCGATTACCTGTAGCCCCAGCCCAGAGTACAGAGTCTTAGAACTTGACATAGTCTTAGGCATTGTTTTATAAAAAGGGAAACTGAGGCCTAGAGAGAGGAAGTATCTTGCCTACACTCACATATGGAAGCGGGGGCAGATCATTCACAACCATTCCCATCCCAGTGTCCATCATCTGCCCCCTACTCCTGTGCAACCCACAACAGCAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACACCACTCTTACACTTACGCCCAAGTATTTCCCATGGGCCTCTCTGTCCTTGCACATCTATGCATAGCCGACGTCATGCAAGTATACATACCTGGGCACATCTGCACACTGAGGAGGAAGTCCTGTAAGGCTTTGGTATCCTGGCCGCTGGCTACCCATTCCAGTCCACGACTAATTAGGGCGGCTGCCCGAAGCTGCTGCAGTGCCGCATCTGACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTATGGCAGTTCCTTGGTTCCTTTTCTGGCATCTTCCCACAGCCGGGACATCTTGGGTAGCAGAGATGATGTGCGGCTGAGCAACTCCTCACATAGAGTCAAGGCATCTTGGGCTCTGCCTGCCTGGATCAGTGCTACCGCTGCCTCCAAAAACACCTCAGGCATACAGGGCCCTGGAGGGGAGGGGGGTGGGGAGAACTGGAGTGGGAAGAAGAAGCAGTGTCTTGAAAGGCATGAGCCACCATCCCCAACCTCTTCACCAGGCTCTGGTACCATGCAGAGTCCTGGGCCCCCAGACTGGACAGACAGAATAGAGGAAAAAACAAAAAATTGCAGTCTTGCTGTATTTCAAAGGGGACACCAACCCGTCTACCCCATTGCAGAGAAGCTTGAAGACACACCCACCCTTGGCTCCGAGCTATCCAGCAACAGGGCCAGCAGGTCCAAGTAATGCTCTGCAGCGTCTCCTGCCCTGAGGAGTAAAAGCCCATAAGCCTCACCCTAGGCCCTAGCAGGGAACCTGCAAGGGTCCTGAGAATGTTCTCTCTTAGCTAACAGATGGATGTTCATGGGCCCTGAGGAGGAGAAAGGGAGGGAAGGTCTTAGGGCTCCAATTTTGGCTCAGTATGGATCTACCCCAGTTACAGAATGGACTGGGGAAGAGACTTCAGAGTGTCAAAGATAGAGAAGGTTAATGTCTTAGAG
|
CCAGCCGGGCCTGCCGGGTCCACGGCCCCTCACTCGCCCCCTAGCTTCCCTTCCCTCTTTCCTGGTCTCCACCTCTCTGACGCGCCCACGGCCAGGCCCCGCCGGGCCTACCCTGCGCGGCTGGTCCCGGTGCGCGCCGCCGCAGCAAGCGAACGGCGCGCGCACACTCACTCGGCTCCAGAAGCCATGGCGCGCGCCTCTCCCGGCCGGCGGCTGTGGCGGCCCGCGGGTAACGGCTACGAGCGGTGGCAAGCGACCGACTGGGCCGGGGCTCGGCTCTTCCAGGCGGTGGGCGAGCAGCGGCGACAAACCCGCAAGCGGCTTCCCTCTCGCTTCCTCCCACCGGCAGCGAGGCGTCGGGCGAACAACGCTGGCTCCTGATCCGCGAGGTGGCAGTGGCAGTGGCAGCGGCAGCGGCAGCGACGACTCAAACGACGGTCGCAGACGCTTCGCTGAGACTGAGCCGAGAAGAGCCGAATCATCGGAAGGGAAGCTGCTCCCACCTCAGCCAATCAGCGCCTGCCCTGCGGACTCTCGCCCGCCTCTCCGCGCCTCTCCCCAGCAACCCGCAGATCACAGCCAATCAGGAAATTCGCTTGCGGCCTGGCTCCCGCCTCAGTGATGCGACACGCCTAGTAACGCCACGTCAATTGGCCGCAACGCTACGCTTCCTCGACGGATTGGAATTCTCAGCCAATCAACGAAAGGAATAGGGCGAGATCGATTAGTGAAAGGAGACCCTTTAATCCCTTAGAGGCGGACTCTCCCACTTGGCTCCAGTTCATTGGCTCCGGAGTTTATCCTCCTGGAAGAACGTGGCACAATAGACTGAACCCTTGTATTAGTCTAGTCCTATTGTGGTAACCCATACACCCATCTTCTCCCAAAACCTGGAGATCTTCTAAGACGCCATCACCACCCTGACACTTCTTGCTCCTTCTCAACGCTGCCTCCAACCACCCCTACTCTGAACTTTCTGACTAGCACCCCACTCCTACCCCATTGTCACTGCACCCTCTGGTAACCCCAATCCCACAGCCTTTGCAGTTTCTCAGCGCTTGTGCCTTTCTTCCTCCCGTCATTAATATTAATACCTTATAATAAGGCACTCAAATCCAGAGAAGTCAAAGGGCAACCACAGAACACACAGCCAATTCAGTAGAACCCAAATTAGCAAGAAAACTGCATATGCTGGGACTTGAAAATCCTTGGGCCCCAAATAACAGGGGTCCCTGTTAGTAGTCAACAGGCAGCTGTTGGTGATATGCTGACTCAATTCACCTTTCACCCTGTACCCACACAGACACATTTGACTAAGACGAGTCGAATTTCTAGAATTTGGAATTAGGAAGGGAGTGAAGAGTTACTCTGAGAGAAACCTGCCTGTCTCTAAGTAACAGGTACCTGCCCTTGTCCTGAGAGGCCTATCTAGACCACCCTTCAGACCCAACTCCACTCATTGTCACTGTCCTGGGCTTTGGGGCTCTGCATTCAGGCAATGTGAAGGACTAAAGCCACTGCCTCCAAAGTGAGGATTCCTGTAGCCCTTTCCTCATACCCAGACTTCAAGTTCATAAGGTAGACGATGTCAGGAAAGGGCATCATAGACAACTAGCACTCAACTAGACGGTCACAAGCCTTCCCACGCAAGTATATGTAGTAGGCAGACGAGATAAATATGAAATTTTACTCGACAACAGAAAAGGAGAAACAGGAAAAAAGGTGCCTCGAGCAAAGTCAATGACTTGGTGGTGGCAGAGATTGTTTCCTCCAAAACGAGAATGGTAGTAACTAGGGCAAATTTCACAGGCCTACCACCAATCTCACCAGTCCAGGAATTATATAGGAATGGTCACATTCCTAATGATGGTGAAGCAGAAAGCCCTCCCCACAGAGAGACAGCCCACTGGGGACCCAGCTCAAGCTCTTCAAAACGTGGCAGCTACAGGTCACAAGACTTTGGCAGAGATGTCCGAAATTCTTCAAGGAAGGCGTCACGATCAGAGGGACGGATCCAGCTCAAATAGCTTTCTAGGTACAGGGGGAGAAACCTGGAGAGAAAGAAGGATGATGCCTAAGGGTGAAAGATTGGCAGAAAGCTGGGCAGCCATACCCCCGCTTTCAGTGTTCACCACCCACAATAGGTCCAAGGACTCTAGGACACCAACTGCCCCTCAGCCCCAAGCCAGCAGGCCTGAGCCTCACCACAGAGCATCTTCATGTGACCCCTTAGTTTGGGCCTCCAGCCTCCACCAGAGTGCAGTGGCCTCATCCCTCCGATCTAGCCTCTTCAGAGTCTGAAGCAGGTGAAAGTAAGTGTCTCGATTACCTGTAGCCCCAGCCCAGAGTACAGAGTCTTAGAACTTGACATAGTCTTAGGCATTGTTTTATAAAAAGGGAAACTGAGGCCTAGAGAGAGGAAGTATCTTGCCTACACTCACATATGGAAGCGGGGGCAGATCATTCACAACCATTCCCATCCCAGTGTCCATCATCTGCCCCCTACTCCTGTGCAACCCACAACAGCAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACACCACTCTTACACTTACGCCCAAGTATTTCCCATGGGCCTCTCTGTCCTTGCACATCTATGCATAGCCGACGTCATGCAAGTATACATACCTGGGCACATCTGCACACTGAGGAGGAAGTCCTGTAAGGCTTTGGTATCCTGGCCGCTGGCTACCCATTCCAGTCCACGACTAATTAGGGCGGCTGCCCGAAGCTGCTGCAGTGCCGCATCTGACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTATGGCAGTTCCTTGGTTCCTTTTCTGGCATCTTCCCACAGCCGGGACATCTTGGGTAGCAGAGATGATGTGCGGCTGAGCAACTCCTCACATAGAGTCAAGGCATCTTGGGCTCTGCCTGCCTGGATCAGTGCTACCGCTGCCTCCAAAAACACCTCAGGCATACAGGGCCCTGGAGGGGAGGGGGGTGGGGAGAACTGGAGTGGGAAGAAGAAGCAGTGTCTTGAAAGGCATGAGCCACCATCCCCAACCTCTTCACCAGGCTCTGGTACCATGCAGAGTCCTGGGCCCCCAGACTGGACAGACAGAATAGAGGAAAAAACAAAAAATTGCAGTCTTGCTGTATTTCAAAGGGGACACCAACCCGTCTACCCCATTGCAGAGAAGCTTGAAGACACACCCACCCTTGGCTCCGAGCTATCCAGCAACAGGGCCAGCAGGTCCAAGTAATGCTCTGCAGCGTCTCCTGCCCTGAGGAGTAAAAGCCCATAAGCCTCACCCTAGGCCCTAGCAGGGAACCTGCAAGGGTCCTGAGAATGTTCTCTCTTAGCTAACAGATGGATGTTCATGGGCCCTGAGGAGGAGAAAGGGAGGGAAGGTCTTAGGGCTCCAATTTTGGCTCAGTATGGATCTACCCCAGTTACAGAATGGACTGGGGAAGAGACTTCAGAGTGTCAAAGATAGAGAAGGTTAATGTCTTAGAG
|
Task1_train_12802
|
Gene FANCG (FA complementation group G) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Fanconi anemia complementation group G
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GGCGAGATCGATTAGTGAAAGGAGACCCTTTAATCCCTTAGAGGCGGACTCTCCCACTTGGCTCCAGTTCATTGGCTCCGGAGTTTATCCTCCTGGAAGAACGTGGCACAATAGACTGAACCCTTGTATTAGTCTAGTCCTATTGTGGTAACCCATACACCCATCTTCTCCCAAAACCTGGAGATCTTCTAAGACGCCATCACCACCCTGACACTTCTTGCTCCTTCTCAACGCTGCCTCCAACCACCCCTACTCTGAACTTTCTGACTAGCACCCCACTCCTACCCCATTGTCACTGCACCCTCTGGTAACCCCAATCCCACAGCCTTTGCAGTTTCTCAGCGCTTGTGCCTTTCTTCCTCCCGTCATTAATATTAATACCTTATAATAAGGCACTCAAATCCAGAGAAGTCAAAGGGCAACCACAGAACACACAGCCAATTCAGTAGAACCCAAATTAGCAAGAAAACTGCATATGCTGGGACTTGAAAATCCTTGGGCCCCAAATAACAGGGGTCCCTGTTAGTAGTCAACAGGCAGCTGTTGGTGATATGCTGACTCAATTCACCTTTCACCCTGTACCCACACAGACACATTTGACTAAGACGAGTCGAATTTCTAGAATTTGGAATTAGGAAGGGAGTGAAGAGTTACTCTGAGAGAAACCTGCCTGTCTCTAAGTAACAGGTACCTGCCCTTGTCCTGAGAGGCCTATCTAGACCACCCTTCAGACCCAACTCCACTCATTGTCACTGTCCTGGGCTTTGGGGCTCTGCATTCAGGCAATGTGAAGGACTAAAGCCACTGCCTCCAAAGTGAGGATTCCTGTAGCCCTTTCCTCATACCCAGACTTCAAGTTCATAAGGTAGACGATGTCAGGAAAGGGCATCATAGACAACTAGCACTCAACTAGACGGTCACAAGCCTTCCCACGCAAGTATATGTAGTAGGCAGACGAGATAAATATGAAATTTTACTCGACAACAGAAAAGGAGAAACAGGAAAAAAGGTGCCTCGAGCAAAGTCAATGACTTGGTGGTGGCAGAGATTGTTTCCTCCAAAACGAGAATGGTAGTAACTAGGGCAAATTTCACAGGCCTACCACCAATCTCACCAGTCCAGGAATTATATAGGAATGGTCACATTCCTAATGATGGTGAAGCAGAAAGCCCTCCCCACAGAGAGACAGCCCACTGGGGACCCAGCTCAAGCTCTTCAAAACGTGGCAGCTACAGGTCACAAGACTTTGGCAGAGATGTCCGAAATTCTTCAAGGAAGGCGTCACGATCAGAGGGACGGATCCAGCTCAAATAGCTTTCTAGGTACAGGGGGAGAGACCTGGAGAGAAAGAAGGATGATGCCTAAGGGTGAAAGATTGGCAGAAAGCTGGGCAGCCATACCCCCGCTTTCAGTGTTCACCACCCACAATAGGTCCAAGGACTCTAGGACACCAACTGCCCCTCAGCCCCAAGCCAGCAGGCCTGAGCCTCACCACAGAGCATCTTCATGTGACCCCTTAGTTTGGGCCTCCAGCCTCCACCAGAGTGCAGTGGCCTCATCCCTCCGATCTAGCCTCTTCAGAGTCTGAAGCAGGTGAAAGTAAGTGTCTCGATTACCTGTAGCCCCAGCCCAGAGTACAGAGTCTTAGAACTTGACATAGTCTTAGGCATTGTTTTATAAAAAGGGAAACTGAGGCCTAGAGAGAGGAAGTATCTTGCCTACACTCACATATGGAAGCGGGGGCAGATCATTCACAACCATTCCCATCCCAGTGTCCATCATCTGCCCCCTACTCCTGTGCAACCCACAACAGCAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACACCACTCTTACACTTACGCCCAAGTATTTCCCATGGGCCTCTCTGTCCTTGCACATCTATGCATAGCCGACGTCATGCAAGTATACATACCTGGGCACATCTGCACACTGAGGAGGAAGTCCTGTAAGGCTTTGGTATCCTGGCCGCTGGCTACCCATTCCAGTCCACGACTAATTAGGGCGGCTGCCCGAAGCTGCTGCAGTGCCGCATCTGACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTATGGCAGTTCCTTGGTTCCTTTTCTGGCATCTTCCCACAGCCGGGACATCTTGGGTAGCAGAGATGATGTGCGGCTGAGCAACTCCTCACATAGAGTCAAGGCATCTTGGGCTCTGCCTGCCTGGATCAGTGCTACCGCTGCCTCCAAAAACACCTCAGGCATACAGGGCCCTGGAGGGGAGGGGGGTGGGGAGAACTGGAGTGGGAAGAAGAAGCAGTGTCTTGAAAGGCATGAGCCACCATCCCCAACCTCTTCACCAGGCTCTGGTACCATGCAGAGTCCTGGGCCCCCAGACTGGACAGACAGAATAGAGGAAAAAACAAAAAATTGCAGTCTTGCTGTATTTCAAAGGGGACACCAACCCGTCTACCCCATTGCAGAGAAGCTTGAAGACACACCCACCCTTGGCTCCGAGCTATCCAGCAACAGGGCCAGCAGGTCCAAGTAATGCTCTGCAGCGTCTCCTGCCCTGAGGAGTAAAAGCCCATAAGCCTCACCCTAGGCCCTAGCAGGGAACCTGCAAGGGTCCTGAGAATGTTCTCTCTTAGCTAACAGATGGATGTTCATGGGCCCTGAGGAGGAGAAAGGGAGGGAAGGTCTTAGGGCTCCAATTTTGGCTCAGTATGGATCTACCCCAGTTACAGAATGGACTGGGGAAGAGACTTCAGAGTGTCAAAGATAGAGAAGGTTAATGTCTTAGAGAAGAGTCCTCAGTTCAGGTCTAGAAGCAAGGTAAGAGGCTGAGGAGTGGCGACCTATGTCCTGCCACTGCCTCATTCATCCCCCAAGTCACAAGAACAAAAGCAGAGTCACACCCCAGGGGAGGCATCAGAAGTGGGAAGAGAAGCTCAGGTGAGCAAGGGGAACCTCACCTCCCCGTCTGTAGGCACCTGCTTGCTAGTATGTGCTTGGTCTGGCTCTGAGTGCCACAATGAAGGGGTGAGGCTAGGTCAGGTGGTGGCAGTAGTAATTCTACCTCAATGAGAAACTGCGGGGCTTTGGAACTGCATGGGACATTCAAGGCCTAAAAGAGAAAGAAAAAAATTGTATCTATAATCTTTGGGAGCCATACTTCCTTATACTTGGATCTTGACTAGTCAAGTCACCCCATCACAAGCACCTCAGGAATCCTCCACCCCACATCTTCACCTGGCAGTTCCCTACCTCAACTAGCAGCTCCAGACTCTCCAGCTCTGCTGTTGTGTCCCCCAGTTGCTGATAGAGCCTAGAGGCCTCCAGAAGTGGAGGACCCCAGGCTGATCCCTCTTTCAGGGCTGCAACCAAGTACAACAGTGCTCTCTGTGGATTTCCCTAAAGGGATAGGAGGACACGGGCCTCAGCTACCCTTACAAAGCAAAAAGCTATACATAATGCTTGTGGTTTCCCCAATCCACCCTAGGACTGTCTTTACCATC
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GGCGAGATCGATTAGTGAAAGGAGACCCTTTAATCCCTTAGAGGCGGACTCTCCCACTTGGCTCCAGTTCATTGGCTCCGGAGTTTATCCTCCTGGAAGAACGTGGCACAATAGACTGAACCCTTGTATTAGTCTAGTCCTATTGTGGTAACCCATACACCCATCTTCTCCCAAAACCTGGAGATCTTCTAAGACGCCATCACCACCCTGACACTTCTTGCTCCTTCTCAACGCTGCCTCCAACCACCCCTACTCTGAACTTTCTGACTAGCACCCCACTCCTACCCCATTGTCACTGCACCCTCTGGTAACCCCAATCCCACAGCCTTTGCAGTTTCTCAGCGCTTGTGCCTTTCTTCCTCCCGTCATTAATATTAATACCTTATAATAAGGCACTCAAATCCAGAGAAGTCAAAGGGCAACCACAGAACACACAGCCAATTCAGTAGAACCCAAATTAGCAAGAAAACTGCATATGCTGGGACTTGAAAATCCTTGGGCCCCAAATAACAGGGGTCCCTGTTAGTAGTCAACAGGCAGCTGTTGGTGATATGCTGACTCAATTCACCTTTCACCCTGTACCCACACAGACACATTTGACTAAGACGAGTCGAATTTCTAGAATTTGGAATTAGGAAGGGAGTGAAGAGTTACTCTGAGAGAAACCTGCCTGTCTCTAAGTAACAGGTACCTGCCCTTGTCCTGAGAGGCCTATCTAGACCACCCTTCAGACCCAACTCCACTCATTGTCACTGTCCTGGGCTTTGGGGCTCTGCATTCAGGCAATGTGAAGGACTAAAGCCACTGCCTCCAAAGTGAGGATTCCTGTAGCCCTTTCCTCATACCCAGACTTCAAGTTCATAAGGTAGACGATGTCAGGAAAGGGCATCATAGACAACTAGCACTCAACTAGACGGTCACAAGCCTTCCCACGCAAGTATATGTAGTAGGCAGACGAGATAAATATGAAATTTTACTCGACAACAGAAAAGGAGAAACAGGAAAAAAGGTGCCTCGAGCAAAGTCAATGACTTGGTGGTGGCAGAGATTGTTTCCTCCAAAACGAGAATGGTAGTAACTAGGGCAAATTTCACAGGCCTACCACCAATCTCACCAGTCCAGGAATTATATAGGAATGGTCACATTCCTAATGATGGTGAAGCAGAAAGCCCTCCCCACAGAGAGACAGCCCACTGGGGACCCAGCTCAAGCTCTTCAAAACGTGGCAGCTACAGGTCACAAGACTTTGGCAGAGATGTCCGAAATTCTTCAAGGAAGGCGTCACGATCAGAGGGACGGATCCAGCTCAAATAGCTTTCTAGGTACAGGGGGAGAGACCTGGAGAGAAAGAAGGATGATGCCTAAGGGTGAAAGATTGGCAGAAAGCTGGGCAGCCATACCCCCGCTTTCAGTGTTCACCACCCACAATAGGTCCAAGGACTCTAGGACACCAACTGCCCCTCAGCCCCAAGCCAGCAGGCCTGAGCCTCACCACAGAGCATCTTCATGTGACCCCTTAGTTTGGGCCTCCAGCCTCCACCAGAGTGCAGTGGCCTCATCCCTCCGATCTAGCCTCTTCAGAGTCTGAAGCAGGTGAAAGTAAGTGTCTCGATTACCTGTAGCCCCAGCCCAGAGTACAGAGTCTTAGAACTTGACATAGTCTTAGGCATTGTTTTATAAAAAGGGAAACTGAGGCCTAGAGAGAGGAAGTATCTTGCCTACACTCACATATGGAAGCGGGGGCAGATCATTCACAACCATTCCCATCCCAGTGTCCATCATCTGCCCCCTACTCCTGTGCAACCCACAACAGCAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACACCACTCTTACACTTACGCCCAAGTATTTCCCATGGGCCTCTCTGTCCTTGCACATCTATGCATAGCCGACGTCATGCAAGTATACATACGTGGGCACATCTGCACACTGAGGAGGAAGTCCTGTAAGGCTTTGGTATCCTGGCCGCTGGCTACCCATTCCAGTCCACGACTAATTAGGGCGGCTGCCCGAAGCTGCTGCAGTGCCGCATCTGACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTATGGCAGTTCCTTGGTTCCTTTTCTGGCATCTTCCCACAGCCGGGACATCTTGGGTAGCAGAGATGATGTGCGGCTGAGCAACTCCTCACATAGAGTCAAGGCATCTTGGGCTCTGCCTGCCTGGATCAGTGCTACCGCTGCCTCCAAAAACACCTCAGGCATACAGGGCCCTGGAGGGGAGGGGGGTGGGGAGAACTGGAGTGGGAAGAAGAAGCAGTGTCTTGAAAGGCATGAGCCACCATCCCCAACCTCTTCACCAGGCTCTGGTACCATGCAGAGTCCTGGGCCCCCAGACTGGACAGACAGAATAGAGGAAAAAACAAAAAATTGCAGTCTTGCTGTATTTCAAAGGGGACACCAACCCGTCTACCCCATTGCAGAGAAGCTTGAAGACACACCCACCCTTGGCTCCGAGCTATCCAGCAACAGGGCCAGCAGGTCCAAGTAATGCTCTGCAGCGTCTCCTGCCCTGAGGAGTAAAAGCCCATAAGCCTCACCCTAGGCCCTAGCAGGGAACCTGCAAGGGTCCTGAGAATGTTCTCTCTTAGCTAACAGATGGATGTTCATGGGCCCTGAGGAGGAGAAAGGGAGGGAAGGTCTTAGGGCTCCAATTTTGGCTCAGTATGGATCTACCCCAGTTACAGAATGGACTGGGGAAGAGACTTCAGAGTGTCAAAGATAGAGAAGGTTAATGTCTTAGAGAAGAGTCCTCAGTTCAGGTCTAGAAGCAAGGTAAGAGGCTGAGGAGTGGCGACCTATGTCCTGCCACTGCCTCATTCATCCCCCAAGTCACAAGAACAAAAGCAGAGTCACACCCCAGGGGAGGCATCAGAAGTGGGAAGAGAAGCTCAGGTGAGCAAGGGGAACCTCACCTCCCCGTCTGTAGGCACCTGCTTGCTAGTATGTGCTTGGTCTGGCTCTGAGTGCCACAATGAAGGGGTGAGGCTAGGTCAGGTGGTGGCAGTAGTAATTCTACCTCAATGAGAAACTGCGGGGCTTTGGAACTGCATGGGACATTCAAGGCCTAAAAGAGAAAGAAAAAAATTGTATCTATAATCTTTGGGAGCCATACTTCCTTATACTTGGATCTTGACTAGTCAAGTCACCCCATCACAAGCACCTCAGGAATCCTCCACCCCACATCTTCACCTGGCAGTTCCCTACCTCAACTAGCAGCTCCAGACTCTCCAGCTCTGCTGTTGTGTCCCCCAGTTGCTGATAGAGCCTAGAGGCCTCCAGAAGTGGAGGACCCCAGGCTGATCCCTCTTTCAGGGCTGCAACCAAGTACAACAGTGCTCTCTGTGGATTTCCCTAAAGGGATAGGAGGACACGGGCCTCAGCTACCCTTACAAAGCAAAAAGCTATACATAATGCTTGTGGTTTCCCCAATCCACCCTAGGACTGTCTTTACCATC
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Task1_train_12803
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This alteration occurs within gene FANCG (FA complementation group G) located on Chromosome 9. Is it associated with a disease or is it a benign variant?
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Pathogenic; Fanconi anemia complementation group G
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GCTCCGGAGTTTATCCTCCTGGAAGAACGTGGCACAATAGACTGAACCCTTGTATTAGTCTAGTCCTATTGTGGTAACCCATACACCCATCTTCTCCCAAAACCTGGAGATCTTCTAAGACGCCATCACCACCCTGACACTTCTTGCTCCTTCTCAACGCTGCCTCCAACCACCCCTACTCTGAACTTTCTGACTAGCACCCCACTCCTACCCCATTGTCACTGCACCCTCTGGTAACCCCAATCCCACAGCCTTTGCAGTTTCTCAGCGCTTGTGCCTTTCTTCCTCCCGTCATTAATATTAATACCTTATAATAAGGCACTCAAATCCAGAGAAGTCAAAGGGCAACCACAGAACACACAGCCAATTCAGTAGAACCCAAATTAGCAAGAAAACTGCATATGCTGGGACTTGAAAATCCTTGGGCCCCAAATAACAGGGGTCCCTGTTAGTAGTCAACAGGCAGCTGTTGGTGATATGCTGACTCAATTCACCTTTCACCCTGTACCCACACAGACACATTTGACTAAGACGAGTCGAATTTCTAGAATTTGGAATTAGGAAGGGAGTGAAGAGTTACTCTGAGAGAAACCTGCCTGTCTCTAAGTAACAGGTACCTGCCCTTGTCCTGAGAGGCCTATCTAGACCACCCTTCAGACCCAACTCCACTCATTGTCACTGTCCTGGGCTTTGGGGCTCTGCATTCAGGCAATGTGAAGGACTAAAGCCACTGCCTCCAAAGTGAGGATTCCTGTAGCCCTTTCCTCATACCCAGACTTCAAGTTCATAAGGTAGACGATGTCAGGAAAGGGCATCATAGACAACTAGCACTCAACTAGACGGTCACAAGCCTTCCCACGCAAGTATATGTAGTAGGCAGACGAGATAAATATGAAATTTTACTCGACAACAGAAAAGGAGAAACAGGAAAAAAGGTGCCTCGAGCAAAGTCAATGACTTGGTGGTGGCAGAGATTGTTTCCTCCAAAACGAGAATGGTAGTAACTAGGGCAAATTTCACAGGCCTACCACCAATCTCACCAGTCCAGGAATTATATAGGAATGGTCACATTCCTAATGATGGTGAAGCAGAAAGCCCTCCCCACAGAGAGACAGCCCACTGGGGACCCAGCTCAAGCTCTTCAAAACGTGGCAGCTACAGGTCACAAGACTTTGGCAGAGATGTCCGAAATTCTTCAAGGAAGGCGTCACGATCAGAGGGACGGATCCAGCTCAAATAGCTTTCTAGGTACAGGGGGAGAGACCTGGAGAGAAAGAAGGATGATGCCTAAGGGTGAAAGATTGGCAGAAAGCTGGGCAGCCATACCCCCGCTTTCAGTGTTCACCACCCACAATAGGTCCAAGGACTCTAGGACACCAACTGCCCCTCAGCCCCAAGCCAGCAGGCCTGAGCCTCACCACAGAGCATCTTCATGTGACCCCTTAGTTTGGGCCTCCAGCCTCCACCAGAGTGCAGTGGCCTCATCCCTCCGATCTAGCCTCTTCAGAGTCTGAAGCAGGTGAAAGTAAGTGTCTCGATTACCTGTAGCCCCAGCCCAGAGTACAGAGTCTTAGAACTTGACATAGTCTTAGGCATTGTTTTATAAAAAGGGAAACTGAGGCCTAGAGAGAGGAAGTATCTTGCCTACACTCACATATGGAAGCGGGGGCAGATCATTCACAACCATTCCCATCCCAGTGTCCATCATCTGCCCCCTACTCCTGTGCAACCCACAACAGCAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACACCACTCTTACACTTACGCCCAAGTATTTCCCATGGGCCTCTCTGTCCTTGCACATCTATGCATAGCCGACGTCATGCAAGTATACATACCTGGGCACATCTGCACACTGAGGAGGAAGTCCTGTAAGGCTTTGGTATCCTGGCCGCTGGCTACCCATTCCAGTCCACGACTAATTAGGGCGGCTGCCCGAAGCTGCTGCAGTGCCGCATCTGACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTATGGCAGTTCCTTGGTTCCTTTTCTGGCATCTTCCCACAGCCGGGACATCTTGGGTAGCAGAGATGATGTGCGGCTGAGCAACTCCTCACATAGAGTCAAGGCATCTTGGGCTCTGCCTGCCTGGATCAGTGCTACCGCTGCCTCCAAAAACACCTCAGGCATACAGGGCCCTGGAGGGGAGGGGGGTGGGGAGAACTGGAGTGGGAAGAAGAAGCAGTGTCTTGAAAGGCATGAGCCACCATCCCCAACCTCTTCACCAGGCTCTGGTACCATGCAGAGTCCTGGGCCCCCAGACTGGACAGACAGAATAGAGGAAAAAACAAAAAATTGCAGTCTTGCTGTATTTCAAAGGGGACACCAACCCGTCTACCCCATTGCAGAGAAGCTTGAAGACACACCCACCCTTGGCTCCGAGCTATCCAGCAACAGGGCCAGCAGGTCCAAGTAATGCTCTGCAGCGTCTCCTGCCCTGAGGAGTAAAAGCCCATAAGCCTCACCCTAGGCCCTAGCAGGGAACCTGCAAGGGTCCTGAGAATGTTCTCTCTTAGCTAACAGATGGATGTTCATGGGCCCTGAGGAGGAGAAAGGGAGGGAAGGTCTTAGGGCTCCAATTTTGGCTCAGTATGGATCTACCCCAGTTACAGAATGGACTGGGGAAGAGACTTCAGAGTGTCAAAGATAGAGAAGGTTAATGTCTTAGAGAAGAGTCCTCAGTTCAGGTCTAGAAGCAAGGTAAGAGGCTGAGGAGTGGCGACCTATGTCCTGCCACTGCCTCATTCATCCCCCAAGTCACAAGAACAAAAGCAGAGTCACACCCCAGGGGAGGCATCAGAAGTGGGAAGAGAAGCTCAGGTGAGCAAGGGGAACCTCACCTCCCCGTCTGTAGGCACCTGCTTGCTAGTATGTGCTTGGTCTGGCTCTGAGTGCCACAATGAAGGGGTGAGGCTAGGTCAGGTGGTGGCAGTAGTAATTCTACCTCAATGAGAAACTGCGGGGCTTTGGAACTGCATGGGACATTCAAGGCCTAAAAGAGAAAGAAAAAAATTGTATCTATAATCTTTGGGAGCCATACTTCCTTATACTTGGATCTTGACTAGTCAAGTCACCCCATCACAAGCACCTCAGGAATCCTCCACCCCACATCTTCACCTGGCAGTTCCCTACCTCAACTAGCAGCTCCAGACTCTCCAGCTCTGCTGTTGTGTCCCCCAGTTGCTGATAGAGCCTAGAGGCCTCCAGAAGTGGAGGACCCCAGGCTGATCCCTCTTTCAGGGCTGCAACCAAGTACAACAGTGCTCTCTGTGGATTTCCCTAAAGGGATAGGAGGACACGGGCCTCAGCTACCCTTACAAAGCAAAAAGCTATACATAATGCTTGTGGTTTCCCCAATCCACCCTAGGACTGTCTTTACCATCTTACGGTGACAGGACCCCAGTGCTGTGTACACCTGGACCAACACAGGCCGTGGACACAGGCCTGAGGCCGCTTC
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GCTCCGGAGTTTATCCTCCTGGAAGAACGTGGCACAATAGACTGAACCCTTGTATTAGTCTAGTCCTATTGTGGTAACCCATACACCCATCTTCTCCCAAAACCTGGAGATCTTCTAAGACGCCATCACCACCCTGACACTTCTTGCTCCTTCTCAACGCTGCCTCCAACCACCCCTACTCTGAACTTTCTGACTAGCACCCCACTCCTACCCCATTGTCACTGCACCCTCTGGTAACCCCAATCCCACAGCCTTTGCAGTTTCTCAGCGCTTGTGCCTTTCTTCCTCCCGTCATTAATATTAATACCTTATAATAAGGCACTCAAATCCAGAGAAGTCAAAGGGCAACCACAGAACACACAGCCAATTCAGTAGAACCCAAATTAGCAAGAAAACTGCATATGCTGGGACTTGAAAATCCTTGGGCCCCAAATAACAGGGGTCCCTGTTAGTAGTCAACAGGCAGCTGTTGGTGATATGCTGACTCAATTCACCTTTCACCCTGTACCCACACAGACACATTTGACTAAGACGAGTCGAATTTCTAGAATTTGGAATTAGGAAGGGAGTGAAGAGTTACTCTGAGAGAAACCTGCCTGTCTCTAAGTAACAGGTACCTGCCCTTGTCCTGAGAGGCCTATCTAGACCACCCTTCAGACCCAACTCCACTCATTGTCACTGTCCTGGGCTTTGGGGCTCTGCATTCAGGCAATGTGAAGGACTAAAGCCACTGCCTCCAAAGTGAGGATTCCTGTAGCCCTTTCCTCATACCCAGACTTCAAGTTCATAAGGTAGACGATGTCAGGAAAGGGCATCATAGACAACTAGCACTCAACTAGACGGTCACAAGCCTTCCCACGCAAGTATATGTAGTAGGCAGACGAGATAAATATGAAATTTTACTCGACAACAGAAAAGGAGAAACAGGAAAAAAGGTGCCTCGAGCAAAGTCAATGACTTGGTGGTGGCAGAGATTGTTTCCTCCAAAACGAGAATGGTAGTAACTAGGGCAAATTTCACAGGCCTACCACCAATCTCACCAGTCCAGGAATTATATAGGAATGGTCACATTCCTAATGATGGTGAAGCAGAAAGCCCTCCCCACAGAGAGACAGCCCACTGGGGACCCAGCTCAAGCTCTTCAAAACGTGGCAGCTACAGGTCACAAGACTTTGGCAGAGATGTCCGAAATTCTTCAAGGAAGGCGTCACGATCAGAGGGACGGATCCAGCTCAAATAGCTTTCTAGGTACAGGGGGAGAGACCTGGAGAGAAAGAAGGATGATGCCTAAGGGTGAAAGATTGGCAGAAAGCTGGGCAGCCATACCCCCGCTTTCAGTGTTCACCACCCACAATAGGTCCAAGGACTCTAGGACACCAACTGCCCCTCAGCCCCAAGCCAGCAGGCCTGAGCCTCACCACAGAGCATCTTCATGTGACCCCTTAGTTTGGGCCTCCAGCCTCCACCAGAGTGCAGTGGCCTCATCCCTCCGATCTAGCCTCTTCAGAGTCTGAAGCAGGTGAAAGTAAGTGTCTCGATTACCTGTAGCCCCAGCCCAGAGTACAGAGTCTTAGAACTTGACATAGTCTTAGGCATTGTTTTATAAAAAGGGAAACTGAGGCCTAGAGAGAGGAAGTATCTTGCCTACACTCACATATGGAAGCGGGGGCAGATCATTCACAACCATTCCCATCCCAGTGTCCATCATCTGCCCCCTACTCCTGTGCAACCCACAACAGCAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACACCACTCTTACACTTACGCCCAAGTATTTCCCATGGGCCTCTCTGTCCTTGCACATCTATGCATAGCCGACGTCATGCAAGTATACATACCTGGGCACATCTGCACACTGAGGAGGAAGTCCTGTAAGGCTTTGGTATCCTGGCCGCTGGCTACCCATTCCAGTTCACGACTAATTAGGGCGGCTGCCCGAAGCTGCTGCAGTGCCGCATCTGACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTATGGCAGTTCCTTGGTTCCTTTTCTGGCATCTTCCCACAGCCGGGACATCTTGGGTAGCAGAGATGATGTGCGGCTGAGCAACTCCTCACATAGAGTCAAGGCATCTTGGGCTCTGCCTGCCTGGATCAGTGCTACCGCTGCCTCCAAAAACACCTCAGGCATACAGGGCCCTGGAGGGGAGGGGGGTGGGGAGAACTGGAGTGGGAAGAAGAAGCAGTGTCTTGAAAGGCATGAGCCACCATCCCCAACCTCTTCACCAGGCTCTGGTACCATGCAGAGTCCTGGGCCCCCAGACTGGACAGACAGAATAGAGGAAAAAACAAAAAATTGCAGTCTTGCTGTATTTCAAAGGGGACACCAACCCGTCTACCCCATTGCAGAGAAGCTTGAAGACACACCCACCCTTGGCTCCGAGCTATCCAGCAACAGGGCCAGCAGGTCCAAGTAATGCTCTGCAGCGTCTCCTGCCCTGAGGAGTAAAAGCCCATAAGCCTCACCCTAGGCCCTAGCAGGGAACCTGCAAGGGTCCTGAGAATGTTCTCTCTTAGCTAACAGATGGATGTTCATGGGCCCTGAGGAGGAGAAAGGGAGGGAAGGTCTTAGGGCTCCAATTTTGGCTCAGTATGGATCTACCCCAGTTACAGAATGGACTGGGGAAGAGACTTCAGAGTGTCAAAGATAGAGAAGGTTAATGTCTTAGAGAAGAGTCCTCAGTTCAGGTCTAGAAGCAAGGTAAGAGGCTGAGGAGTGGCGACCTATGTCCTGCCACTGCCTCATTCATCCCCCAAGTCACAAGAACAAAAGCAGAGTCACACCCCAGGGGAGGCATCAGAAGTGGGAAGAGAAGCTCAGGTGAGCAAGGGGAACCTCACCTCCCCGTCTGTAGGCACCTGCTTGCTAGTATGTGCTTGGTCTGGCTCTGAGTGCCACAATGAAGGGGTGAGGCTAGGTCAGGTGGTGGCAGTAGTAATTCTACCTCAATGAGAAACTGCGGGGCTTTGGAACTGCATGGGACATTCAAGGCCTAAAAGAGAAAGAAAAAAATTGTATCTATAATCTTTGGGAGCCATACTTCCTTATACTTGGATCTTGACTAGTCAAGTCACCCCATCACAAGCACCTCAGGAATCCTCCACCCCACATCTTCACCTGGCAGTTCCCTACCTCAACTAGCAGCTCCAGACTCTCCAGCTCTGCTGTTGTGTCCCCCAGTTGCTGATAGAGCCTAGAGGCCTCCAGAAGTGGAGGACCCCAGGCTGATCCCTCTTTCAGGGCTGCAACCAAGTACAACAGTGCTCTCTGTGGATTTCCCTAAAGGGATAGGAGGACACGGGCCTCAGCTACCCTTACAAAGCAAAAAGCTATACATAATGCTTGTGGTTTCCCCAATCCACCCTAGGACTGTCTTTACCATCTTACGGTGACAGGACCCCAGTGCTGTGTACACCTGGACCAACACAGGCCGTGGACACAGGCCTGAGGCCGCTTC
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Task1_train_12804
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Gene FANCG (FA complementation group G) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Fanconi anemia
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CAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACACCACTCTTACACTTACGCCCAAGTATTTCCCATGGGCCTCTCTGTCCTTGCACATCTATGCATAGCCGACGTCATGCAAGTATACATACCTGGGCACATCTGCACACTGAGGAGGAAGTCCTGTAAGGCTTTGGTATCCTGGCCGCTGGCTACCCATTCCAGTCCACGACTAATTAGGGCGGCTGCCCGAAGCTGCTGCAGTGCCGCATCTGACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTATGGCAGTTCCTTGGTTCCTTTTCTGGCATCTTCCCACAGCCGGGACATCTTGGGTAGCAGAGATGATGTGCGGCTGAGCAACTCCTCACATAGAGTCAAGGCATCTTGGGCTCTGCCTGCCTGGATCAGTGCTACCGCTGCCTCCAAAAACACCTCAGGCATACAGGGCCCTGGAGGGGAGGGGGGTGGGGAGAACTGGAGTGGGAAGAAGAAGCAGTGTCTTGAAAGGCATGAGCCACCATCCCCAACCTCTTCACCAGGCTCTGGTACCATGCAGAGTCCTGGGCCCCCAGACTGGACAGACAGAATAGAGGAAAAAACAAAAAATTGCAGTCTTGCTGTATTTCAAAGGGGACACCAACCCGTCTACCCCATTGCAGAGAAGCTTGAAGACACACCCACCCTTGGCTCCGAGCTATCCAGCAACAGGGCCAGCAGGTCCAAGTAATGCTCTGCAGCGTCTCCTGCCCTGAGGAGTAAAAGCCCATAAGCCTCACCCTAGGCCCTAGCAGGGAACCTGCAAGGGTCCTGAGAATGTTCTCTCTTAGCTAACAGATGGATGTTCATGGGCCCTGAGGAGGAGAAAGGGAGGGAAGGTCTTAGGGCTCCAATTTTGGCTCAGTATGGATCTACCCCAGTTACAGAATGGACTGGGGAAGAGACTTCAGAGTGTCAAAGATAGAGAAGGTTAATGTCTTAGAGAAGAGTCCTCAGTTCAGGTCTAGAAGCAAGGTAAGAGGCTGAGGAGTGGCGACCTATGTCCTGCCACTGCCTCATTCATCCCCCAAGTCACAAGAACAAAAGCAGAGTCACACCCCAGGGGAGGCATCAGAAGTGGGAAGAGAAGCTCAGGTGAGCAAGGGGAACCTCACCTCCCCGTCTGTAGGCACCTGCTTGCTAGTATGTGCTTGGTCTGGCTCTGAGTGCCACAATGAAGGGGTGAGGCTAGGTCAGGTGGTGGCAGTAGTAATTCTACCTCAATGAGAAACTGCGGGGCTTTGGAACTGCATGGGACATTCAAGGCCTAAAAGAGAAAGAAAAAAATTGTATCTATAATCTTTGGGAGCCATACTTCCTTATACTTGGATCTTGACTAGTCAAGTCACCCCATCACAAGCACCTCAGGAATCCTCCACCCCACATCTTCACCTGGCAGTTCCCTACCTCAACTAGCAGCTCCAGACTCTCCAGCTCTGCTGTTGTGTCCCCCAGTTGCTGATAGAGCCTAGAGGCCTCCAGAAGTGGAGGACCCCAGGCTGATCCCTCTTTCAGGGCTGCAACCAAGTACAACAGTGCTCTCTGTGGATTTCCCTAAAGGGATAGGAGGACACGGGCCTCAGCTACCCTTACAAAGCAAAAAGCTATACATAATGCTTGTGGTTTCCCCAATCCACCCTAGGACTGTCTTTACCATCTTACGGTGACAGGACCCCAGTGCTGTGTACACCTGGACCAACACAGGCCGTGGACACAGGCCTGAGGCCGCTTCATGAAGGCTGCTTAGTGCCTTGTCTGGGTTCCCTGTGATCAGCTCCTGGAGACCTGAGGACAGTCAGGGTGTGAGCTTGGAGAGGGCTATAGAGCAGGGGTCATGATGGGGAACAAGGGTCTAAGAAGCCCATGGAACTGAATGGGACAAGAGAGAGGGCATGAGTCTGGAGGACCACTTAAAGGTAGAAGAGATGAGTCAGGTTGCTAGCTGACCTTGGCGGTAGGCAAATGCTGTCAGGAGGACATCCTTCAATCCCTGGGCATCCTGCAGGGTCAATGGAGCATCTAATTCCTCAGCTGGGGGACTCCAAGTTTTCAGAAGTAACAGCAGATCCTTAGAGGCTCCACTCTGGGGAAAGAAGGACAACCAGAAGCTCCAAGCCTACAACCTCCTCGTCTTCTCCTATCTCCATCTATCCTGGCTAGACCTTGAGCTCAAGGGTCCTCTTGATCCTTGAGGACACAGGCCTCAGCTACCCTTACAAAGCAAGAAGCTATGCATAATGCCTGTAGTTTCCCCCAATTCTAAGAGATAGATAGCTATGAGGCAAGAATTAAAAAAAAGGAAGAAAAACCTGGGGCAGTGATGATCTATTCCAGCGTGCCTCCTCACTCAGGGCAAGGACCATATTTGAGTTACTAATAAGGAGACTAAGGCTGAGAGCTGACTTGAGCAAGATCACAAGAGCCCTATCCCTATCCAAAAAAAAATTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGCAGGGCTGGAGTGCAGTGGCGTGATCATAGCTCACAACTCACTGTTGCCTCCACCTCTTGGGTTCAAGTGATCCTCCTACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACCATGCCTGTCCAATTTTTAAAAAACACTCCTAAGAGAATCCCCACAATGAGAGACCAACCAGGGCAAGGTCACCCAAGAGTCCCAGAGAGAATCCAGGTTTTCCGACCACCAACCCAGCCGCCTGTCCAGTACATGATGATGCTACTGCAGCTGGAGAGAAAGGAGGAGGAAGGAAGGAGGAGACCCTCAGCTTCAGGTCACTTTCCCTATTACCTGGCTGCCATTCAGGGTCTCTAGTAACAAGGCCAGGTCCCCAAGACGGTCAGCACTCAACCAGAGGGCAGCCTGCAGGCCAACCAGGCGGTGCAGGGCAGACAGCAGCTCCGGCAGAAGGCAGGAAGCACGAAGGACAGAGTCCCACAGCTCCCTGAGCCCCTGTTCCAACCTGGGCCCCTGCTGCTCCTGTGTCTCCAGCACTGTAGAGTATACACACACACATAGACACACACACAGCTGAAGTAGCACCTCATCCTCCATCTCCCCACACACTCTGGCTTTCCTCTCCTGCAGGACCCCAAAGGTCACAATAATAATACCTCAACCTGGTCTGAAGAGCACAGAGAAGGGCACCTCTCTCCATGGAGGTGACAGATGTTGTTTATCCTCCCATCTCCCTGCAATAACTTAAACCCAGACTGAAGATGGCAGGGGAATCAGGGACAATCTCTGGCCCTCACCTCTCTCTAGGCTCCGCTGGATATCCTGGGCCTGATCCTCTGTGAAACCCTGGGCCAAGCTTGCCCTCAGGATAATGAAGTTGCAGGTGACAGTCAGCTCCAAGGGAAGAACAGGAACAGCTGCAGGGAGCCCTGGAGCAACAATGTTGGTCTTACAGACTGCTCCCCCATGGAAGATCCTCC
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CAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACACCACTCTTACACTTACGCCCAAGTATTTCCCATGGGCCTCTCTGTCCTTGCACATCTATGCATAGCCGACGTCATGCAAGTATACATACCTGGGCACATCTGCACACTGAGGAGGAAGTCCTGTAAGGCTTTGGTATCCTGGCCGCTGGCTACCCATTCCAGTCCACGACTAATTAGGGCGGCTGCCCGAAGCTGCTGCAGTGCCGCATCTGACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTATGGCAGTTCCTTGGTTCCTTTTCTGGCATCTTCCCACAGCCGGGACATCTTGGGTAGCAGAGATGATGTGCGGCTGAGCAACTCCTCACATAGAGTCAAGGCATCTTGGGCTCTGCCTGCCTGGATCAGTGCTACCGCTGCCTCCAAAAACACCTCAGGCATACAGGGCCCTGGAGGGGAGGGGGGTGGGGAGAACTGGAGTGGGAAGAAGAAGCAGTGTCTTGAAAGGCATGAGCCACCATCCCCAACCTCTTCACCAGGCTCTGGTACCATGCAGAGTCCTGGGCCCCCAGACTGGACAGACAGAATAGAGGAAAAAACAAAAAATTGCAGTCTTGCTGTATTTCAAAGGGGACACCAACCCGTCTACCCCATTGCAGAGAAGCTTGAAGACACACCCACCCTTGGCTCCGAGCTATCCAGCAACAGGGCCAGCAGGTCCAAGTAATGCTCTGCAGCGTCTCCTGCCCTGAGGAGTAAAAGCCCATAAGCCTCACCCTAGGCCCTAGCAGGGAACCTGCAAGGGTCCTGAGAATGTTCTCTCTTAGCTAACAGATGGATGTTCATGGGCCCTGAGGAGGAGAAAGGGAGGGAAGGTCTTAGGGCTCCAATTTTGGCTCAGTATGGATCTACCCCAGTTACAGAATGGACTGGGGAAGAGACTTCAGAGTGTCAAAGATAGAGAAGGTTAATGTCTTAGAGAAGAGTCCTCAGTTCAGGTCTAGAAGCAAGGTAAGAGGCTGAGGAGTGGCGACCTATGTCCTGCCACTGCCTCATTCATCCCCCAAGTCACAAGAACAAAAGCAGAGTCACACCCCAGGGGAGGCATCAGAAGTGGGAAGAGAAGCTCAGGTGAGCAAGGGGAACCTCACCTCCCCGTCTGTAGGCACCTGCTTGCTAGTATGTGCTTGGTCTGGCTCTGAGTGCCACAATGAAGGGGTGAGGCTAGGTCAGGTGGTGGCAGTAGTAATTCTACCTCAATGAGAAACTGCGGGGCTTTGGAACTGCATGGGACATTCAAGGCCTAAAAGAGAAAGAAAAAAATTGTATCTATAATCTTTGGGAGCCATACTTCCTTATACTTGGATCTTGACTAGTCAAGTCACCCCATCACAAGCACCTCAGGAATCCTCCACCCCACATCTTCACCTGGCAGTTCCCTACCTCAACTAGCAGCTCCGGACTCTCCAGCTCTGCTGTTGTGTCCCCCAGTTGCTGATAGAGCCTAGAGGCCTCCAGAAGTGGAGGACCCCAGGCTGATCCCTCTTTCAGGGCTGCAACCAAGTACAACAGTGCTCTCTGTGGATTTCCCTAAAGGGATAGGAGGACACGGGCCTCAGCTACCCTTACAAAGCAAAAAGCTATACATAATGCTTGTGGTTTCCCCAATCCACCCTAGGACTGTCTTTACCATCTTACGGTGACAGGACCCCAGTGCTGTGTACACCTGGACCAACACAGGCCGTGGACACAGGCCTGAGGCCGCTTCATGAAGGCTGCTTAGTGCCTTGTCTGGGTTCCCTGTGATCAGCTCCTGGAGACCTGAGGACAGTCAGGGTGTGAGCTTGGAGAGGGCTATAGAGCAGGGGTCATGATGGGGAACAAGGGTCTAAGAAGCCCATGGAACTGAATGGGACAAGAGAGAGGGCATGAGTCTGGAGGACCACTTAAAGGTAGAAGAGATGAGTCAGGTTGCTAGCTGACCTTGGCGGTAGGCAAATGCTGTCAGGAGGACATCCTTCAATCCCTGGGCATCCTGCAGGGTCAATGGAGCATCTAATTCCTCAGCTGGGGGACTCCAAGTTTTCAGAAGTAACAGCAGATCCTTAGAGGCTCCACTCTGGGGAAAGAAGGACAACCAGAAGCTCCAAGCCTACAACCTCCTCGTCTTCTCCTATCTCCATCTATCCTGGCTAGACCTTGAGCTCAAGGGTCCTCTTGATCCTTGAGGACACAGGCCTCAGCTACCCTTACAAAGCAAGAAGCTATGCATAATGCCTGTAGTTTCCCCCAATTCTAAGAGATAGATAGCTATGAGGCAAGAATTAAAAAAAAGGAAGAAAAACCTGGGGCAGTGATGATCTATTCCAGCGTGCCTCCTCACTCAGGGCAAGGACCATATTTGAGTTACTAATAAGGAGACTAAGGCTGAGAGCTGACTTGAGCAAGATCACAAGAGCCCTATCCCTATCCAAAAAAAAATTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGCAGGGCTGGAGTGCAGTGGCGTGATCATAGCTCACAACTCACTGTTGCCTCCACCTCTTGGGTTCAAGTGATCCTCCTACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACCATGCCTGTCCAATTTTTAAAAAACACTCCTAAGAGAATCCCCACAATGAGAGACCAACCAGGGCAAGGTCACCCAAGAGTCCCAGAGAGAATCCAGGTTTTCCGACCACCAACCCAGCCGCCTGTCCAGTACATGATGATGCTACTGCAGCTGGAGAGAAAGGAGGAGGAAGGAAGGAGGAGACCCTCAGCTTCAGGTCACTTTCCCTATTACCTGGCTGCCATTCAGGGTCTCTAGTAACAAGGCCAGGTCCCCAAGACGGTCAGCACTCAACCAGAGGGCAGCCTGCAGGCCAACCAGGCGGTGCAGGGCAGACAGCAGCTCCGGCAGAAGGCAGGAAGCACGAAGGACAGAGTCCCACAGCTCCCTGAGCCCCTGTTCCAACCTGGGCCCCTGCTGCTCCTGTGTCTCCAGCACTGTAGAGTATACACACACACATAGACACACACACAGCTGAAGTAGCACCTCATCCTCCATCTCCCCACACACTCTGGCTTTCCTCTCCTGCAGGACCCCAAAGGTCACAATAATAATACCTCAACCTGGTCTGAAGAGCACAGAGAAGGGCACCTCTCTCCATGGAGGTGACAGATGTTGTTTATCCTCCCATCTCCCTGCAATAACTTAAACCCAGACTGAAGATGGCAGGGGAATCAGGGACAATCTCTGGCCCTCACCTCTCTCTAGGCTCCGCTGGATATCCTGGGCCTGATCCTCTGTGAAACCCTGGGCCAAGCTTGCCCTCAGGATAATGAAGTTGCAGGTGACAGTCAGCTCCAAGGGAAGAACAGGAACAGCTGCAGGGAGCCCTGGAGCAACAATGTTGGTCTTACAGACTGCTCCCCCATGGAAGATCCTCC
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Task1_train_12805
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With a mutation on Chromosome 9 in gene FANCG (FA complementation group G), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Fanconi anemia complementation group G
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CAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACACCACTCTTACACTTACGCCCAAGTATTTCCCATGGGCCTCTCTGTCCTTGCACATCTATGCATAGCCGACGTCATGCAAGTATACATACCTGGGCACATCTGCACACTGAGGAGGAAGTCCTGTAAGGCTTTGGTATCCTGGCCGCTGGCTACCCATTCCAGTCCACGACTAATTAGGGCGGCTGCCCGAAGCTGCTGCAGTGCCGCATCTGACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTATGGCAGTTCCTTGGTTCCTTTTCTGGCATCTTCCCACAGCCGGGACATCTTGGGTAGCAGAGATGATGTGCGGCTGAGCAACTCCTCACATAGAGTCAAGGCATCTTGGGCTCTGCCTGCCTGGATCAGTGCTACCGCTGCCTCCAAAAACACCTCAGGCATACAGGGCCCTGGAGGGGAGGGGGGTGGGGAGAACTGGAGTGGGAAGAAGAAGCAGTGTCTTGAAAGGCATGAGCCACCATCCCCAACCTCTTCACCAGGCTCTGGTACCATGCAGAGTCCTGGGCCCCCAGACTGGACAGACAGAATAGAGGAAAAAACAAAAAATTGCAGTCTTGCTGTATTTCAAAGGGGACACCAACCCGTCTACCCCATTGCAGAGAAGCTTGAAGACACACCCACCCTTGGCTCCGAGCTATCCAGCAACAGGGCCAGCAGGTCCAAGTAATGCTCTGCAGCGTCTCCTGCCCTGAGGAGTAAAAGCCCATAAGCCTCACCCTAGGCCCTAGCAGGGAACCTGCAAGGGTCCTGAGAATGTTCTCTCTTAGCTAACAGATGGATGTTCATGGGCCCTGAGGAGGAGAAAGGGAGGGAAGGTCTTAGGGCTCCAATTTTGGCTCAGTATGGATCTACCCCAGTTACAGAATGGACTGGGGAAGAGACTTCAGAGTGTCAAAGATAGAGAAGGTTAATGTCTTAGAGAAGAGTCCTCAGTTCAGGTCTAGAAGCAAGGTAAGAGGCTGAGGAGTGGCGACCTATGTCCTGCCACTGCCTCATTCATCCCCCAAGTCACAAGAACAAAAGCAGAGTCACACCCCAGGGGAGGCATCAGAAGTGGGAAGAGAAGCTCAGGTGAGCAAGGGGAACCTCACCTCCCCGTCTGTAGGCACCTGCTTGCTAGTATGTGCTTGGTCTGGCTCTGAGTGCCACAATGAAGGGGTGAGGCTAGGTCAGGTGGTGGCAGTAGTAATTCTACCTCAATGAGAAACTGCGGGGCTTTGGAACTGCATGGGACATTCAAGGCCTAAAAGAGAAAGAAAAAAATTGTATCTATAATCTTTGGGAGCCATACTTCCTTATACTTGGATCTTGACTAGTCAAGTCACCCCATCACAAGCACCTCAGGAATCCTCCACCCCACATCTTCACCTGGCAGTTCCCTACCTCAACTAGCAGCTCCAGACTCTCCAGCTCTGCTGTTGTGTCCCCCAGTTGCTGATAGAGCCTAGAGGCCTCCAGAAGTGGAGGACCCCAGGCTGATCCCTCTTTCAGGGCTGCAACCAAGTACAACAGTGCTCTCTGTGGATTTCCCTAAAGGGATAGGAGGACACGGGCCTCAGCTACCCTTACAAAGCAAAAAGCTATACATAATGCTTGTGGTTTCCCCAATCCACCCTAGGACTGTCTTTACCATCTTACGGTGACAGGACCCCAGTGCTGTGTACACCTGGACCAACACAGGCCGTGGACACAGGCCTGAGGCCGCTTCATGAAGGCTGCTTAGTGCCTTGTCTGGGTTCCCTGTGATCAGCTCCTGGAGACCTGAGGACAGTCAGGGTGTGAGCTTGGAGAGGGCTATAGAGCAGGGGTCATGATGGGGAACAAGGGTCTAAGAAGCCCATGGAACTGAATGGGACAAGAGAGAGGGCATGAGTCTGGAGGACCACTTAAAGGTAGAAGAGATGAGTCAGGTTGCTAGCTGACCTTGGCGGTAGGCAAATGCTGTCAGGAGGACATCCTTCAATCCCTGGGCATCCTGCAGGGTCAATGGAGCATCTAATTCCTCAGCTGGGGGACTCCAAGTTTTCAGAAGTAACAGCAGATCCTTAGAGGCTCCACTCTGGGGAAAGAAGGACAACCAGAAGCTCCAAGCCTACAACCTCCTCGTCTTCTCCTATCTCCATCTATCCTGGCTAGACCTTGAGCTCAAGGGTCCTCTTGATCCTTGAGGACACAGGCCTCAGCTACCCTTACAAAGCAAGAAGCTATGCATAATGCCTGTAGTTTCCCCCAATTCTAAGAGATAGATAGCTATGAGGCAAGAATTAAAAAAAAGGAAGAAAAACCTGGGGCAGTGATGATCTATTCCAGCGTGCCTCCTCACTCAGGGCAAGGACCATATTTGAGTTACTAATAAGGAGACTAAGGCTGAGAGCTGACTTGAGCAAGATCACAAGAGCCCTATCCCTATCCAAAAAAAAATTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGCAGGGCTGGAGTGCAGTGGCGTGATCATAGCTCACAACTCACTGTTGCCTCCACCTCTTGGGTTCAAGTGATCCTCCTACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACCATGCCTGTCCAATTTTTAAAAAACACTCCTAAGAGAATCCCCACAATGAGAGACCAACCAGGGCAAGGTCACCCAAGAGTCCCAGAGAGAATCCAGGTTTTCCGACCACCAACCCAGCCGCCTGTCCAGTACATGATGATGCTACTGCAGCTGGAGAGAAAGGAGGAGGAAGGAAGGAGGAGACCCTCAGCTTCAGGTCACTTTCCCTATTACCTGGCTGCCATTCAGGGTCTCTAGTAACAAGGCCAGGTCCCCAAGACGGTCAGCACTCAACCAGAGGGCAGCCTGCAGGCCAACCAGGCGGTGCAGGGCAGACAGCAGCTCCGGCAGAAGGCAGGAAGCACGAAGGACAGAGTCCCACAGCTCCCTGAGCCCCTGTTCCAACCTGGGCCCCTGCTGCTCCTGTGTCTCCAGCACTGTAGAGTATACACACACACATAGACACACACACAGCTGAAGTAGCACCTCATCCTCCATCTCCCCACACACTCTGGCTTTCCTCTCCTGCAGGACCCCAAAGGTCACAATAATAATACCTCAACCTGGTCTGAAGAGCACAGAGAAGGGCACCTCTCTCCATGGAGGTGACAGATGTTGTTTATCCTCCCATCTCCCTGCAATAACTTAAACCCAGACTGAAGATGGCAGGGGAATCAGGGACAATCTCTGGCCCTCACCTCTCTCTAGGCTCCGCTGGATATCCTGGGCCTGATCCTCTGTGAAACCCTGGGCCAAGCTTGCCCTCAGGATAATGAAGTTGCAGGTGACAGTCAGCTCCAAGGGAAGAACAGGAACAGCTGCAGGGAGCCCTGGAGCAACAATGTTGGTCTTACAGACTGCTCCCCCATGGAAGATCCTCC
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CAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACACCACTCTTACACTTACGCCCAAGTATTTCCCATGGGCCTCTCTGTCCTTGCACATCTATGCATAGCCGACGTCATGCAAGTATACATACCTGGGCACATCTGCACACTGAGGAGGAAGTCCTGTAAGGCTTTGGTATCCTGGCCGCTGGCTACCCATTCCAGTCCACGACTAATTAGGGCGGCTGCCCGAAGCTGCTGCAGTGCCGCATCTGACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTATGGCAGTTCCTTGGTTCCTTTTCTGGCATCTTCCCACAGCCGGGACATCTTGGGTAGCAGAGATGATGTGCGGCTGAGCAACTCCTCACATAGAGTCAAGGCATCTTGGGCTCTGCCTGCCTGGATCAGTGCTACCGCTGCCTCCAAAAACACCTCAGGCATACAGGGCCCTGGAGGGGAGGGGGGTGGGGAGAACTGGAGTGGGAAGAAGAAGCAGTGTCTTGAAAGGCATGAGCCACCATCCCCAACCTCTTCACCAGGCTCTGGTACCATGCAGAGTCCTGGGCCCCCAGACTGGACAGACAGAATAGAGGAAAAAACAAAAAATTGCAGTCTTGCTGTATTTCAAAGGGGACACCAACCCGTCTACCCCATTGCAGAGAAGCTTGAAGACACACCCACCCTTGGCTCCGAGCTATCCAGCAACAGGGCCAGCAGGTCCAAGTAATGCTCTGCAGCGTCTCCTGCCCTGAGGAGTAAAAGCCCATAAGCCTCACCCTAGGCCCTAGCAGGGAACCTGCAAGGGTCCTGAGAATGTTCTCTCTTAGCTAACAGATGGATGTTCATGGGCCCTGAGGAGGAGAAAGGGAGGGAAGGTCTTAGGGCTCCAATTTTGGCTCAGTATGGATCTACCCCAGTTACAGAATGGACTGGGGAAGAGACTTCAGAGTGTCAAAGATAGAGAAGGTTAATGTCTTAGAGAAGAGTCCTCAGTTCAGGTCTAGAAGCAAGGTAAGAGGCTGAGGAGTGGCGACCTATGTCCTGCCACTGCCTCATTCATCCCCCAAGTCACAAGAACAAAAGCAGAGTCACACCCCAGGGGAGGCATCAGAAGTGGGAAGAGAAGCTCAGGTGAGCAAGGGGAACCTCACCTCCCCGTCTGTAGGCACCTGCTTGCTAGTATGTGCTTGGTCTGGCTCTGAGTGCCACAATGAAGGGGTGAGGCTAGGTCAGGTGGTGGCAGTAGTAATTCTACCTCAATGAGAAACTGCGGGGCTTTGGAACTGCATGGGACATTCAAGGCCTAAAAGAGAAAGAAAAAAATTGTATCTATAATCTTTGGGAGCCATACTTCCTTATACTTGGATCTTGACTAGTCAAGTCACCCCATCACAAGCACCTCAGGAATCCTCCACCCCACATCTTCACCTGGCAGTTCCCTACCTCAACTAGCAGCTCCGGACTCTCCAGCTCTGCTGTTGTGTCCCCCAGTTGCTGATAGAGCCTAGAGGCCTCCAGAAGTGGAGGACCCCAGGCTGATCCCTCTTTCAGGGCTGCAACCAAGTACAACAGTGCTCTCTGTGGATTTCCCTAAAGGGATAGGAGGACACGGGCCTCAGCTACCCTTACAAAGCAAAAAGCTATACATAATGCTTGTGGTTTCCCCAATCCACCCTAGGACTGTCTTTACCATCTTACGGTGACAGGACCCCAGTGCTGTGTACACCTGGACCAACACAGGCCGTGGACACAGGCCTGAGGCCGCTTCATGAAGGCTGCTTAGTGCCTTGTCTGGGTTCCCTGTGATCAGCTCCTGGAGACCTGAGGACAGTCAGGGTGTGAGCTTGGAGAGGGCTATAGAGCAGGGGTCATGATGGGGAACAAGGGTCTAAGAAGCCCATGGAACTGAATGGGACAAGAGAGAGGGCATGAGTCTGGAGGACCACTTAAAGGTAGAAGAGATGAGTCAGGTTGCTAGCTGACCTTGGCGGTAGGCAAATGCTGTCAGGAGGACATCCTTCAATCCCTGGGCATCCTGCAGGGTCAATGGAGCATCTAATTCCTCAGCTGGGGGACTCCAAGTTTTCAGAAGTAACAGCAGATCCTTAGAGGCTCCACTCTGGGGAAAGAAGGACAACCAGAAGCTCCAAGCCTACAACCTCCTCGTCTTCTCCTATCTCCATCTATCCTGGCTAGACCTTGAGCTCAAGGGTCCTCTTGATCCTTGAGGACACAGGCCTCAGCTACCCTTACAAAGCAAGAAGCTATGCATAATGCCTGTAGTTTCCCCCAATTCTAAGAGATAGATAGCTATGAGGCAAGAATTAAAAAAAAGGAAGAAAAACCTGGGGCAGTGATGATCTATTCCAGCGTGCCTCCTCACTCAGGGCAAGGACCATATTTGAGTTACTAATAAGGAGACTAAGGCTGAGAGCTGACTTGAGCAAGATCACAAGAGCCCTATCCCTATCCAAAAAAAAATTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGCAGGGCTGGAGTGCAGTGGCGTGATCATAGCTCACAACTCACTGTTGCCTCCACCTCTTGGGTTCAAGTGATCCTCCTACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACCATGCCTGTCCAATTTTTAAAAAACACTCCTAAGAGAATCCCCACAATGAGAGACCAACCAGGGCAAGGTCACCCAAGAGTCCCAGAGAGAATCCAGGTTTTCCGACCACCAACCCAGCCGCCTGTCCAGTACATGATGATGCTACTGCAGCTGGAGAGAAAGGAGGAGGAAGGAAGGAGGAGACCCTCAGCTTCAGGTCACTTTCCCTATTACCTGGCTGCCATTCAGGGTCTCTAGTAACAAGGCCAGGTCCCCAAGACGGTCAGCACTCAACCAGAGGGCAGCCTGCAGGCCAACCAGGCGGTGCAGGGCAGACAGCAGCTCCGGCAGAAGGCAGGAAGCACGAAGGACAGAGTCCCACAGCTCCCTGAGCCCCTGTTCCAACCTGGGCCCCTGCTGCTCCTGTGTCTCCAGCACTGTAGAGTATACACACACACATAGACACACACACAGCTGAAGTAGCACCTCATCCTCCATCTCCCCACACACTCTGGCTTTCCTCTCCTGCAGGACCCCAAAGGTCACAATAATAATACCTCAACCTGGTCTGAAGAGCACAGAGAAGGGCACCTCTCTCCATGGAGGTGACAGATGTTGTTTATCCTCCCATCTCCCTGCAATAACTTAAACCCAGACTGAAGATGGCAGGGGAATCAGGGACAATCTCTGGCCCTCACCTCTCTCTAGGCTCCGCTGGATATCCTGGGCCTGATCCTCTGTGAAACCCTGGGCCAAGCTTGCCCTCAGGATAATGAAGTTGCAGGTGACAGTCAGCTCCAAGGGAAGAACAGGAACAGCTGCAGGGAGCCCTGGAGCAACAATGTTGGTCTTACAGACTGCTCCCCCATGGAAGATCCTCC
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Task1_train_12806
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A mutation found in FANCG (FA complementation group G) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Fanconi anemia
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ACTAGTCAAGTCACCCCATCACAAGCACCTCAGGAATCCTCCACCCCACATCTTCACCTGGCAGTTCCCTACCTCAACTAGCAGCTCCAGACTCTCCAGCTCTGCTGTTGTGTCCCCCAGTTGCTGATAGAGCCTAGAGGCCTCCAGAAGTGGAGGACCCCAGGCTGATCCCTCTTTCAGGGCTGCAACCAAGTACAACAGTGCTCTCTGTGGATTTCCCTAAAGGGATAGGAGGACACGGGCCTCAGCTACCCTTACAAAGCAAAAAGCTATACATAATGCTTGTGGTTTCCCCAATCCACCCTAGGACTGTCTTTACCATCTTACGGTGACAGGACCCCAGTGCTGTGTACACCTGGACCAACACAGGCCGTGGACACAGGCCTGAGGCCGCTTCATGAAGGCTGCTTAGTGCCTTGTCTGGGTTCCCTGTGATCAGCTCCTGGAGACCTGAGGACAGTCAGGGTGTGAGCTTGGAGAGGGCTATAGAGCAGGGGTCATGATGGGGAACAAGGGTCTAAGAAGCCCATGGAACTGAATGGGACAAGAGAGAGGGCATGAGTCTGGAGGACCACTTAAAGGTAGAAGAGATGAGTCAGGTTGCTAGCTGACCTTGGCGGTAGGCAAATGCTGTCAGGAGGACATCCTTCAATCCCTGGGCATCCTGCAGGGTCAATGGAGCATCTAATTCCTCAGCTGGGGGACTCCAAGTTTTCAGAAGTAACAGCAGATCCTTAGAGGCTCCACTCTGGGGAAAGAAGGACAACCAGAAGCTCCAAGCCTACAACCTCCTCGTCTTCTCCTATCTCCATCTATCCTGGCTAGACCTTGAGCTCAAGGGTCCTCTTGATCCTTGAGGACACAGGCCTCAGCTACCCTTACAAAGCAAGAAGCTATGCATAATGCCTGTAGTTTCCCCCAATTCTAAGAGATAGATAGCTATGAGGCAAGAATTAAAAAAAAGGAAGAAAAACCTGGGGCAGTGATGATCTATTCCAGCGTGCCTCCTCACTCAGGGCAAGGACCATATTTGAGTTACTAATAAGGAGACTAAGGCTGAGAGCTGACTTGAGCAAGATCACAAGAGCCCTATCCCTATCCAAAAAAAAATTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGCAGGGCTGGAGTGCAGTGGCGTGATCATAGCTCACAACTCACTGTTGCCTCCACCTCTTGGGTTCAAGTGATCCTCCTACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACCATGCCTGTCCAATTTTTAAAAAACACTCCTAAGAGAATCCCCACAATGAGAGACCAACCAGGGCAAGGTCACCCAAGAGTCCCAGAGAGAATCCAGGTTTTCCGACCACCAACCCAGCCGCCTGTCCAGTACATGATGATGCTACTGCAGCTGGAGAGAAAGGAGGAGGAAGGAAGGAGGAGACCCTCAGCTTCAGGTCACTTTCCCTATTACCTGGCTGCCATTCAGGGTCTCTAGTAACAAGGCCAGGTCCCCAAGACGGTCAGCACTCAACCAGAGGGCAGCCTGCAGGCCAACCAGGCGGTGCAGGGCAGACAGCAGCTCCGGCAGAAGGCAGGAAGCACGAAGGACAGAGTCCCACAGCTCCCTGAGCCCCTGTTCCAACCTGGGCCCCTGCTGCTCCTGTGTCTCCAGCACTGTAGAGTATACACACACACATAGACACACACACAGCTGAAGTAGCACCTCATCCTCCATCTCCCCACACACTCTGGCTTTCCTCTCCTGCAGGACCCCAAAGGTCACAATAATAATACCTCAACCTGGTCTGAAGAGCACAGAGAAGGGCACCTCTCTCCATGGAGGTGACAGATGTTGTTTATCCTCCCATCTCCCTGCAATAACTTAAACCCAGACTGAAGATGGCAGGGGAATCAGGGACAATCTCTGGCCCTCACCTCTCTCTAGGCTCCGCTGGATATCCTGGGCCTGATCCTCTGTGAAACCCTGGGCCAAGCTTGCCCTCAGGATAATGAAGTTGCAGGTGACAGTCAGCTCCAAGGGAAGAACAGGAACAGCTGCAGGGAGCCCTGGAGCAACAATGTTGGTCTTACAGACTGCTCCCCCATGGAAGATCCTCCAAATAAAATCCCAACTCAGAGATCACCCCACTCCAACCAAAACAGCTACAATAAAGAACCCACCCTCCAGCCAATTAGCTAAGGATTTAAAAAAAGAACCCAACCTTTGGACAGAGAGTCTGGAAAGGGCAAAAAAGTTATCCAGATCAGACCATCTTGGAAACCATTTTTCAAATGCCACTCTGTGAGTGTGTAAGGAAGAGAGGGATTTGCCTGTACAAAGATGATTCCACTCCAGTCTCCTCTGTGCCTTAAACAGGACTCCCTGCCCCGAGTAATTATATCGATCCCAAAAACGCAGGAGCGGATGTTTCTCTGGCTATGGAAGAGGGGAACTGACCATCCTGGGGAGGACCCGCCTACCTTGCAGACTATGGAGGAGCCCTCTGAGCCCTTCCAGTGCATCCTGAGCCAACTGCTGTCGCCTCAGAGTCAGACCGGAGTTCTGAGCCACCTGCCACATGAGGGAGGGGTTGTCACTGAGGATCAATCCTTTTTTCTCCCCTTGCAGCAGTGGCAAGGGATGCATTCTCCAGTCATTTCTGGCTCTTTGGTCAAGCTCAGTCCCTCCCCATCGGTTGGGGTAAATCCACTGCAAACCCGCTTTCAGGGATCTTGAGGCTGCAAACCGAGGGTGCCAGCAACCGTGTTACCTTGGCCTGTCGAACGAGCCGGTCATTCTTTTCCCTCCACAGGTCCAGGCAGCTGGAGCCCACAGAGGTGGTCTGGCGGGACATGGTGGCCGAGGCTGGGCCCGGAGACCAGAAGCGGACTTAGGAAGGGTGAAGCTGGCCTGCCCAAGCTCCCAACCCCAGCGGGGAGGGGCCTGGGCACTTCTGCACCCCGCCGAGCTCCCCTGCTTCTCTCGGGGTCCCAATCCACCCGCCCAGGCTTTCCAGGACAGATGGGACGCTCTCTCCCCGCGGCCCGCCGGGCTCTCAACCTCGCCTCTGGTTGGCCGGGTCTGCGAAGCTCTGGGCTGCGGTTGGTCCTCTTGAAGAGTTAGTTCCCGCGGGAAACTCGGGGAGGAAACGAGTCAGCAACCCCAAACAGGCTTAGGCGGGCTAGAAGCCGGGGTCGTGTCTGACTGGGGCAGTCGCACGGCCGGCGGTGCGGCCCGCTCGGCTCTCGCGGAGGCCACAGCCTCGAGAAAGGGTGGGCGGGAGCGAGTTTCGGCCCCACAGTCCGTGGCTCGGCCCTTCCTCGCTGCCACACCCCCAGGTCCTCCTGGGTTCCCGCTTCCACCGAGGGCCGACTGCGAGGTGCATGCTGGGAGTCGTAGTACCGCACCGGGGCGGAACAGCTCCGCCCCGGCGGATGGTGTTTCCAGAAAGCGGTAACTGGAGACGAGGGCGCTCCGTAATCGTCCATCCTTTCTCTGCTCACTGTCGAGCACCAACACGCTCACCAAGGTCGGCTTTCTACCGCGTGTAGTCTGCTGGCAGTGCCGCTCTGTACTTGCACTGCTCAAAAGTACCTGCCCAATCATTTCAAATTAAATGGAGCTAGGAGAATTGAATATCCATATGCAAAAAAAAAAAAAAAAAAAGACAGGAAAGAAAAGAACGCGACCATACATACGTACATAAAATCAACTCAATGGATCACAAACTAAATATAAGAGCCAAAAATATAAAACTTCTAAAAGAAAACGTAAAGCAGCCTAACTAACATGGTGAAACCTTCTCTACAAAAATACAAAAATTAGCAGGGCGTGGTGTCGTGCGCCTGTAATCCCAGCTACCCCGGAGGCTGAGGCGGAAGAATCGCTTGAACCCGGGTGGCGGAGGTTGCAGTGAGCCGACATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAACGTAAGAGAACAGCTTTATGACCTTGGGTTTGGCAACAAGTTGTTAGACACAGCACTAAAAGCTTGTACAATTTAAAAAAAAGTTA
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ACTAGTCAAGTCACCCCATCACAAGCACCTCAGGAATCCTCCACCCCACATCTTCACCTGGCAGTTCCCTACCTCAACTAGCAGCTCCAGACTCTCCAGCTCTGCTGTTGTGTCCCCCAGTTGCTGATAGAGCCTAGAGGCCTCCAGAAGTGGAGGACCCCAGGCTGATCCCTCTTTCAGGGCTGCAACCAAGTACAACAGTGCTCTCTGTGGATTTCCCTAAAGGGATAGGAGGACACGGGCCTCAGCTACCCTTACAAAGCAAAAAGCTATACATAATGCTTGTGGTTTCCCCAATCCACCCTAGGACTGTCTTTACCATCTTACGGTGACAGGACCCCAGTGCTGTGTACACCTGGACCAACACAGGCCGTGGACACAGGCCTGAGGCCGCTTCATGAAGGCTGCTTAGTGCCTTGTCTGGGTTCCCTGTGATCAGCTCCTGGAGACCTGAGGACAGTCAGGGTGTGAGCTTGGAGAGGGCTATAGAGCAGGGGTCATGATGGGGAACAAGGGTCTAAGAAGCCCATGGAACTGAATGGGACAAGAGAGAGGGCATGAGTCTGGAGGACCACTTAAAGGTAGAAGAGATGAGTCAGGTTGCTAGCTGACCTTGGCGGTAGGCAAATGCTGTCAGGAGGACATCCTTCAATCCCTGGGCATCCTGCAGGGTCAATGGAGCATCTAATTCCTCAGCTGGGGGACTCCAAGTTTTCAGAAGTAACAGCAGATCCTTAGAGGCTCCACTCTGGGGAAAGAAGGACAACCAGAAGCTCCAAGCCTACAACCTCCTCGTCTTCTCCTATCTCCATCTATCCTGGCTAGACCTTGAGCTCAAGGGTCCTCTTGATCCTTGAGGACACAGGCCTCAGCTACCCTTACAAAGCAAGAAGCTATGCATAATGCCTGTAGTTTCCCCCAATTCTAAGAGATAGATAGCTATGAGGCAAGAATTAAAAAAAAGGAAGAAAAACCTGGGGCAGTGATGATCTATTCCAGCGTGCCTCCTCACTCAGGGCAAGGACCATATTTGAGTTACTAATAAGGAGACTAAGGCTGAGAGCTGACTTGAGCAAGATCACAAGAGCCCTATCCCTATCCAAAAAAAAATTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGCAGGGCTGGAGTGCAGTGGCGTGATCATAGCTCACAACTCACTGTTGCCTCCACCTCTTGGGTTCAAGTGATCCTCCTACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACCATGCCTGTCCAATTTTTAAAAAACACTCCTAAGAGAATCCCCACAATGAGAGACCAACCAGGGCAAGGTCACCCAAGAGTCCCAGAGAGAATCCAGGTTTTCCGACCACCAACCCAGCCGCCTGTCCAGTACATGATGATGCTACTGCAGCTGGAGAGAAAGGAGGAGGAAGGAAGGAGGAGACCCTCAGCTTCAGGTCACTTTCCCTATTACCTGGCTGCCATTCAGGGTCTCTAGTAACAAGGCCAGGTCCCCAAGACGGTCAGCACTCAACCAGAGGGCAGCCTGCAGGCCAACCAGGCGGTGCAGGGCAGACAGCAGCTCCGGCAGAAGGCAGGAAGCACGAAGGACAGAGTCCCACAGCTCCCTGAGCCCCTGTTCCAACCTGGGCCCCTGCTGCTCCTGTGTCTCCAGCACTGTAGAGTATACACACACACATAGACACACACACAGCTGAAGTAGCACCTCATCCTCCATCTCCCCACACACTCTGGCTTTCCTCTCCTGCAGGACCCCAAAGGTCACAATAATAATACCTCAACCTGGTCTGAAGAGCACAGAGAAGGGCACCTCTCTCCATGGAGGTGACAGATGTTGTTTATCCTCCCATCTCCCTGCAATAACTTAAACCCAGACTGAAGATGGCAGGGGAATCAGGGACAATCTCTGGCCCTCACCTCTCTCTAGGCTCCGCTGGATATCCTGGGCCTGATCCTCTGTGAAACCCTGGGCCAAGCTTGCCCTCAGGATAATGAAGTTGCAGGTGACAGTCGGCTCCAAGGGAAGAACAGGAACAGCTGCAGGGAGCCCTGGAGCAACAATGTTGGTCTTACAGACTGCTCCCCCATGGAAGATCCTCCAAATAAAATCCCAACTCAGAGATCACCCCACTCCAACCAAAACAGCTACAATAAAGAACCCACCCTCCAGCCAATTAGCTAAGGATTTAAAAAAAGAACCCAACCTTTGGACAGAGAGTCTGGAAAGGGCAAAAAAGTTATCCAGATCAGACCATCTTGGAAACCATTTTTCAAATGCCACTCTGTGAGTGTGTAAGGAAGAGAGGGATTTGCCTGTACAAAGATGATTCCACTCCAGTCTCCTCTGTGCCTTAAACAGGACTCCCTGCCCCGAGTAATTATATCGATCCCAAAAACGCAGGAGCGGATGTTTCTCTGGCTATGGAAGAGGGGAACTGACCATCCTGGGGAGGACCCGCCTACCTTGCAGACTATGGAGGAGCCCTCTGAGCCCTTCCAGTGCATCCTGAGCCAACTGCTGTCGCCTCAGAGTCAGACCGGAGTTCTGAGCCACCTGCCACATGAGGGAGGGGTTGTCACTGAGGATCAATCCTTTTTTCTCCCCTTGCAGCAGTGGCAAGGGATGCATTCTCCAGTCATTTCTGGCTCTTTGGTCAAGCTCAGTCCCTCCCCATCGGTTGGGGTAAATCCACTGCAAACCCGCTTTCAGGGATCTTGAGGCTGCAAACCGAGGGTGCCAGCAACCGTGTTACCTTGGCCTGTCGAACGAGCCGGTCATTCTTTTCCCTCCACAGGTCCAGGCAGCTGGAGCCCACAGAGGTGGTCTGGCGGGACATGGTGGCCGAGGCTGGGCCCGGAGACCAGAAGCGGACTTAGGAAGGGTGAAGCTGGCCTGCCCAAGCTCCCAACCCCAGCGGGGAGGGGCCTGGGCACTTCTGCACCCCGCCGAGCTCCCCTGCTTCTCTCGGGGTCCCAATCCACCCGCCCAGGCTTTCCAGGACAGATGGGACGCTCTCTCCCCGCGGCCCGCCGGGCTCTCAACCTCGCCTCTGGTTGGCCGGGTCTGCGAAGCTCTGGGCTGCGGTTGGTCCTCTTGAAGAGTTAGTTCCCGCGGGAAACTCGGGGAGGAAACGAGTCAGCAACCCCAAACAGGCTTAGGCGGGCTAGAAGCCGGGGTCGTGTCTGACTGGGGCAGTCGCACGGCCGGCGGTGCGGCCCGCTCGGCTCTCGCGGAGGCCACAGCCTCGAGAAAGGGTGGGCGGGAGCGAGTTTCGGCCCCACAGTCCGTGGCTCGGCCCTTCCTCGCTGCCACACCCCCAGGTCCTCCTGGGTTCCCGCTTCCACCGAGGGCCGACTGCGAGGTGCATGCTGGGAGTCGTAGTACCGCACCGGGGCGGAACAGCTCCGCCCCGGCGGATGGTGTTTCCAGAAAGCGGTAACTGGAGACGAGGGCGCTCCGTAATCGTCCATCCTTTCTCTGCTCACTGTCGAGCACCAACACGCTCACCAAGGTCGGCTTTCTACCGCGTGTAGTCTGCTGGCAGTGCCGCTCTGTACTTGCACTGCTCAAAAGTACCTGCCCAATCATTTCAAATTAAATGGAGCTAGGAGAATTGAATATCCATATGCAAAAAAAAAAAAAAAAAAAGACAGGAAAGAAAAGAACGCGACCATACATACGTACATAAAATCAACTCAATGGATCACAAACTAAATATAAGAGCCAAAAATATAAAACTTCTAAAAGAAAACGTAAAGCAGCCTAACTAACATGGTGAAACCTTCTCTACAAAAATACAAAAATTAGCAGGGCGTGGTGTCGTGCGCCTGTAATCCCAGCTACCCCGGAGGCTGAGGCGGAAGAATCGCTTGAACCCGGGTGGCGGAGGTTGCAGTGAGCCGACATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAACGTAAGAGAACAGCTTTATGACCTTGGGTTTGGCAACAAGTTGTTAGACACAGCACTAAAAGCTTGTACAATTTAAAAAAAAGTTA
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Task1_train_12807
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This alteration in FANCG (FA complementation group G) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Fanconi anemia complementation group G
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ACTAGTCAAGTCACCCCATCACAAGCACCTCAGGAATCCTCCACCCCACATCTTCACCTGGCAGTTCCCTACCTCAACTAGCAGCTCCAGACTCTCCAGCTCTGCTGTTGTGTCCCCCAGTTGCTGATAGAGCCTAGAGGCCTCCAGAAGTGGAGGACCCCAGGCTGATCCCTCTTTCAGGGCTGCAACCAAGTACAACAGTGCTCTCTGTGGATTTCCCTAAAGGGATAGGAGGACACGGGCCTCAGCTACCCTTACAAAGCAAAAAGCTATACATAATGCTTGTGGTTTCCCCAATCCACCCTAGGACTGTCTTTACCATCTTACGGTGACAGGACCCCAGTGCTGTGTACACCTGGACCAACACAGGCCGTGGACACAGGCCTGAGGCCGCTTCATGAAGGCTGCTTAGTGCCTTGTCTGGGTTCCCTGTGATCAGCTCCTGGAGACCTGAGGACAGTCAGGGTGTGAGCTTGGAGAGGGCTATAGAGCAGGGGTCATGATGGGGAACAAGGGTCTAAGAAGCCCATGGAACTGAATGGGACAAGAGAGAGGGCATGAGTCTGGAGGACCACTTAAAGGTAGAAGAGATGAGTCAGGTTGCTAGCTGACCTTGGCGGTAGGCAAATGCTGTCAGGAGGACATCCTTCAATCCCTGGGCATCCTGCAGGGTCAATGGAGCATCTAATTCCTCAGCTGGGGGACTCCAAGTTTTCAGAAGTAACAGCAGATCCTTAGAGGCTCCACTCTGGGGAAAGAAGGACAACCAGAAGCTCCAAGCCTACAACCTCCTCGTCTTCTCCTATCTCCATCTATCCTGGCTAGACCTTGAGCTCAAGGGTCCTCTTGATCCTTGAGGACACAGGCCTCAGCTACCCTTACAAAGCAAGAAGCTATGCATAATGCCTGTAGTTTCCCCCAATTCTAAGAGATAGATAGCTATGAGGCAAGAATTAAAAAAAAGGAAGAAAAACCTGGGGCAGTGATGATCTATTCCAGCGTGCCTCCTCACTCAGGGCAAGGACCATATTTGAGTTACTAATAAGGAGACTAAGGCTGAGAGCTGACTTGAGCAAGATCACAAGAGCCCTATCCCTATCCAAAAAAAAATTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGCAGGGCTGGAGTGCAGTGGCGTGATCATAGCTCACAACTCACTGTTGCCTCCACCTCTTGGGTTCAAGTGATCCTCCTACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACCATGCCTGTCCAATTTTTAAAAAACACTCCTAAGAGAATCCCCACAATGAGAGACCAACCAGGGCAAGGTCACCCAAGAGTCCCAGAGAGAATCCAGGTTTTCCGACCACCAACCCAGCCGCCTGTCCAGTACATGATGATGCTACTGCAGCTGGAGAGAAAGGAGGAGGAAGGAAGGAGGAGACCCTCAGCTTCAGGTCACTTTCCCTATTACCTGGCTGCCATTCAGGGTCTCTAGTAACAAGGCCAGGTCCCCAAGACGGTCAGCACTCAACCAGAGGGCAGCCTGCAGGCCAACCAGGCGGTGCAGGGCAGACAGCAGCTCCGGCAGAAGGCAGGAAGCACGAAGGACAGAGTCCCACAGCTCCCTGAGCCCCTGTTCCAACCTGGGCCCCTGCTGCTCCTGTGTCTCCAGCACTGTAGAGTATACACACACACATAGACACACACACAGCTGAAGTAGCACCTCATCCTCCATCTCCCCACACACTCTGGCTTTCCTCTCCTGCAGGACCCCAAAGGTCACAATAATAATACCTCAACCTGGTCTGAAGAGCACAGAGAAGGGCACCTCTCTCCATGGAGGTGACAGATGTTGTTTATCCTCCCATCTCCCTGCAATAACTTAAACCCAGACTGAAGATGGCAGGGGAATCAGGGACAATCTCTGGCCCTCACCTCTCTCTAGGCTCCGCTGGATATCCTGGGCCTGATCCTCTGTGAAACCCTGGGCCAAGCTTGCCCTCAGGATAATGAAGTTGCAGGTGACAGTCAGCTCCAAGGGAAGAACAGGAACAGCTGCAGGGAGCCCTGGAGCAACAATGTTGGTCTTACAGACTGCTCCCCCATGGAAGATCCTCCAAATAAAATCCCAACTCAGAGATCACCCCACTCCAACCAAAACAGCTACAATAAAGAACCCACCCTCCAGCCAATTAGCTAAGGATTTAAAAAAAGAACCCAACCTTTGGACAGAGAGTCTGGAAAGGGCAAAAAAGTTATCCAGATCAGACCATCTTGGAAACCATTTTTCAAATGCCACTCTGTGAGTGTGTAAGGAAGAGAGGGATTTGCCTGTACAAAGATGATTCCACTCCAGTCTCCTCTGTGCCTTAAACAGGACTCCCTGCCCCGAGTAATTATATCGATCCCAAAAACGCAGGAGCGGATGTTTCTCTGGCTATGGAAGAGGGGAACTGACCATCCTGGGGAGGACCCGCCTACCTTGCAGACTATGGAGGAGCCCTCTGAGCCCTTCCAGTGCATCCTGAGCCAACTGCTGTCGCCTCAGAGTCAGACCGGAGTTCTGAGCCACCTGCCACATGAGGGAGGGGTTGTCACTGAGGATCAATCCTTTTTTCTCCCCTTGCAGCAGTGGCAAGGGATGCATTCTCCAGTCATTTCTGGCTCTTTGGTCAAGCTCAGTCCCTCCCCATCGGTTGGGGTAAATCCACTGCAAACCCGCTTTCAGGGATCTTGAGGCTGCAAACCGAGGGTGCCAGCAACCGTGTTACCTTGGCCTGTCGAACGAGCCGGTCATTCTTTTCCCTCCACAGGTCCAGGCAGCTGGAGCCCACAGAGGTGGTCTGGCGGGACATGGTGGCCGAGGCTGGGCCCGGAGACCAGAAGCGGACTTAGGAAGGGTGAAGCTGGCCTGCCCAAGCTCCCAACCCCAGCGGGGAGGGGCCTGGGCACTTCTGCACCCCGCCGAGCTCCCCTGCTTCTCTCGGGGTCCCAATCCACCCGCCCAGGCTTTCCAGGACAGATGGGACGCTCTCTCCCCGCGGCCCGCCGGGCTCTCAACCTCGCCTCTGGTTGGCCGGGTCTGCGAAGCTCTGGGCTGCGGTTGGTCCTCTTGAAGAGTTAGTTCCCGCGGGAAACTCGGGGAGGAAACGAGTCAGCAACCCCAAACAGGCTTAGGCGGGCTAGAAGCCGGGGTCGTGTCTGACTGGGGCAGTCGCACGGCCGGCGGTGCGGCCCGCTCGGCTCTCGCGGAGGCCACAGCCTCGAGAAAGGGTGGGCGGGAGCGAGTTTCGGCCCCACAGTCCGTGGCTCGGCCCTTCCTCGCTGCCACACCCCCAGGTCCTCCTGGGTTCCCGCTTCCACCGAGGGCCGACTGCGAGGTGCATGCTGGGAGTCGTAGTACCGCACCGGGGCGGAACAGCTCCGCCCCGGCGGATGGTGTTTCCAGAAAGCGGTAACTGGAGACGAGGGCGCTCCGTAATCGTCCATCCTTTCTCTGCTCACTGTCGAGCACCAACACGCTCACCAAGGTCGGCTTTCTACCGCGTGTAGTCTGCTGGCAGTGCCGCTCTGTACTTGCACTGCTCAAAAGTACCTGCCCAATCATTTCAAATTAAATGGAGCTAGGAGAATTGAATATCCATATGCAAAAAAAAAAAAAAAAAAAGACAGGAAAGAAAAGAACGCGACCATACATACGTACATAAAATCAACTCAATGGATCACAAACTAAATATAAGAGCCAAAAATATAAAACTTCTAAAAGAAAACGTAAAGCAGCCTAACTAACATGGTGAAACCTTCTCTACAAAAATACAAAAATTAGCAGGGCGTGGTGTCGTGCGCCTGTAATCCCAGCTACCCCGGAGGCTGAGGCGGAAGAATCGCTTGAACCCGGGTGGCGGAGGTTGCAGTGAGCCGACATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAACGTAAGAGAACAGCTTTATGACCTTGGGTTTGGCAACAAGTTGTTAGACACAGCACTAAAAGCTTGTACAATTTAAAAAAAAGTTA
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ACTAGTCAAGTCACCCCATCACAAGCACCTCAGGAATCCTCCACCCCACATCTTCACCTGGCAGTTCCCTACCTCAACTAGCAGCTCCAGACTCTCCAGCTCTGCTGTTGTGTCCCCCAGTTGCTGATAGAGCCTAGAGGCCTCCAGAAGTGGAGGACCCCAGGCTGATCCCTCTTTCAGGGCTGCAACCAAGTACAACAGTGCTCTCTGTGGATTTCCCTAAAGGGATAGGAGGACACGGGCCTCAGCTACCCTTACAAAGCAAAAAGCTATACATAATGCTTGTGGTTTCCCCAATCCACCCTAGGACTGTCTTTACCATCTTACGGTGACAGGACCCCAGTGCTGTGTACACCTGGACCAACACAGGCCGTGGACACAGGCCTGAGGCCGCTTCATGAAGGCTGCTTAGTGCCTTGTCTGGGTTCCCTGTGATCAGCTCCTGGAGACCTGAGGACAGTCAGGGTGTGAGCTTGGAGAGGGCTATAGAGCAGGGGTCATGATGGGGAACAAGGGTCTAAGAAGCCCATGGAACTGAATGGGACAAGAGAGAGGGCATGAGTCTGGAGGACCACTTAAAGGTAGAAGAGATGAGTCAGGTTGCTAGCTGACCTTGGCGGTAGGCAAATGCTGTCAGGAGGACATCCTTCAATCCCTGGGCATCCTGCAGGGTCAATGGAGCATCTAATTCCTCAGCTGGGGGACTCCAAGTTTTCAGAAGTAACAGCAGATCCTTAGAGGCTCCACTCTGGGGAAAGAAGGACAACCAGAAGCTCCAAGCCTACAACCTCCTCGTCTTCTCCTATCTCCATCTATCCTGGCTAGACCTTGAGCTCAAGGGTCCTCTTGATCCTTGAGGACACAGGCCTCAGCTACCCTTACAAAGCAAGAAGCTATGCATAATGCCTGTAGTTTCCCCCAATTCTAAGAGATAGATAGCTATGAGGCAAGAATTAAAAAAAAGGAAGAAAAACCTGGGGCAGTGATGATCTATTCCAGCGTGCCTCCTCACTCAGGGCAAGGACCATATTTGAGTTACTAATAAGGAGACTAAGGCTGAGAGCTGACTTGAGCAAGATCACAAGAGCCCTATCCCTATCCAAAAAAAAATTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGCAGGGCTGGAGTGCAGTGGCGTGATCATAGCTCACAACTCACTGTTGCCTCCACCTCTTGGGTTCAAGTGATCCTCCTACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACCATGCCTGTCCAATTTTTAAAAAACACTCCTAAGAGAATCCCCACAATGAGAGACCAACCAGGGCAAGGTCACCCAAGAGTCCCAGAGAGAATCCAGGTTTTCCGACCACCAACCCAGCCGCCTGTCCAGTACATGATGATGCTACTGCAGCTGGAGAGAAAGGAGGAGGAAGGAAGGAGGAGACCCTCAGCTTCAGGTCACTTTCCCTATTACCTGGCTGCCATTCAGGGTCTCTAGTAACAAGGCCAGGTCCCCAAGACGGTCAGCACTCAACCAGAGGGCAGCCTGCAGGCCAACCAGGCGGTGCAGGGCAGACAGCAGCTCCGGCAGAAGGCAGGAAGCACGAAGGACAGAGTCCCACAGCTCCCTGAGCCCCTGTTCCAACCTGGGCCCCTGCTGCTCCTGTGTCTCCAGCACTGTAGAGTATACACACACACATAGACACACACACAGCTGAAGTAGCACCTCATCCTCCATCTCCCCACACACTCTGGCTTTCCTCTCCTGCAGGACCCCAAAGGTCACAATAATAATACCTCAACCTGGTCTGAAGAGCACAGAGAAGGGCACCTCTCTCCATGGAGGTGACAGATGTTGTTTATCCTCCCATCTCCCTGCAATAACTTAAACCCAGACTGAAGATGGCAGGGGAATCAGGGACAATCTCTGGCCCTCACCTCTCTCTAGGCTCCGCTGGATATCCTGGGCCTGATCCTCTGTGAAACCCTGGGCCAAGCTTGCCCTCAGGATAATGAAGTTGCAGGTGACAGTCGGCTCCAAGGGAAGAACAGGAACAGCTGCAGGGAGCCCTGGAGCAACAATGTTGGTCTTACAGACTGCTCCCCCATGGAAGATCCTCCAAATAAAATCCCAACTCAGAGATCACCCCACTCCAACCAAAACAGCTACAATAAAGAACCCACCCTCCAGCCAATTAGCTAAGGATTTAAAAAAAGAACCCAACCTTTGGACAGAGAGTCTGGAAAGGGCAAAAAAGTTATCCAGATCAGACCATCTTGGAAACCATTTTTCAAATGCCACTCTGTGAGTGTGTAAGGAAGAGAGGGATTTGCCTGTACAAAGATGATTCCACTCCAGTCTCCTCTGTGCCTTAAACAGGACTCCCTGCCCCGAGTAATTATATCGATCCCAAAAACGCAGGAGCGGATGTTTCTCTGGCTATGGAAGAGGGGAACTGACCATCCTGGGGAGGACCCGCCTACCTTGCAGACTATGGAGGAGCCCTCTGAGCCCTTCCAGTGCATCCTGAGCCAACTGCTGTCGCCTCAGAGTCAGACCGGAGTTCTGAGCCACCTGCCACATGAGGGAGGGGTTGTCACTGAGGATCAATCCTTTTTTCTCCCCTTGCAGCAGTGGCAAGGGATGCATTCTCCAGTCATTTCTGGCTCTTTGGTCAAGCTCAGTCCCTCCCCATCGGTTGGGGTAAATCCACTGCAAACCCGCTTTCAGGGATCTTGAGGCTGCAAACCGAGGGTGCCAGCAACCGTGTTACCTTGGCCTGTCGAACGAGCCGGTCATTCTTTTCCCTCCACAGGTCCAGGCAGCTGGAGCCCACAGAGGTGGTCTGGCGGGACATGGTGGCCGAGGCTGGGCCCGGAGACCAGAAGCGGACTTAGGAAGGGTGAAGCTGGCCTGCCCAAGCTCCCAACCCCAGCGGGGAGGGGCCTGGGCACTTCTGCACCCCGCCGAGCTCCCCTGCTTCTCTCGGGGTCCCAATCCACCCGCCCAGGCTTTCCAGGACAGATGGGACGCTCTCTCCCCGCGGCCCGCCGGGCTCTCAACCTCGCCTCTGGTTGGCCGGGTCTGCGAAGCTCTGGGCTGCGGTTGGTCCTCTTGAAGAGTTAGTTCCCGCGGGAAACTCGGGGAGGAAACGAGTCAGCAACCCCAAACAGGCTTAGGCGGGCTAGAAGCCGGGGTCGTGTCTGACTGGGGCAGTCGCACGGCCGGCGGTGCGGCCCGCTCGGCTCTCGCGGAGGCCACAGCCTCGAGAAAGGGTGGGCGGGAGCGAGTTTCGGCCCCACAGTCCGTGGCTCGGCCCTTCCTCGCTGCCACACCCCCAGGTCCTCCTGGGTTCCCGCTTCCACCGAGGGCCGACTGCGAGGTGCATGCTGGGAGTCGTAGTACCGCACCGGGGCGGAACAGCTCCGCCCCGGCGGATGGTGTTTCCAGAAAGCGGTAACTGGAGACGAGGGCGCTCCGTAATCGTCCATCCTTTCTCTGCTCACTGTCGAGCACCAACACGCTCACCAAGGTCGGCTTTCTACCGCGTGTAGTCTGCTGGCAGTGCCGCTCTGTACTTGCACTGCTCAAAAGTACCTGCCCAATCATTTCAAATTAAATGGAGCTAGGAGAATTGAATATCCATATGCAAAAAAAAAAAAAAAAAAAGACAGGAAAGAAAAGAACGCGACCATACATACGTACATAAAATCAACTCAATGGATCACAAACTAAATATAAGAGCCAAAAATATAAAACTTCTAAAAGAAAACGTAAAGCAGCCTAACTAACATGGTGAAACCTTCTCTACAAAAATACAAAAATTAGCAGGGCGTGGTGTCGTGCGCCTGTAATCCCAGCTACCCCGGAGGCTGAGGCGGAAGAATCGCTTGAACCCGGGTGGCGGAGGTTGCAGTGAGCCGACATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAACGTAAGAGAACAGCTTTATGACCTTGGGTTTGGCAACAAGTTGTTAGACACAGCACTAAAAGCTTGTACAATTTAAAAAAAAGTTA
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Task1_train_12808
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The gene FANCG (FA complementation group G) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Fanconi anemia complementation group G
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GGACAACCAGAAGCTCCAAGCCTACAACCTCCTCGTCTTCTCCTATCTCCATCTATCCTGGCTAGACCTTGAGCTCAAGGGTCCTCTTGATCCTTGAGGACACAGGCCTCAGCTACCCTTACAAAGCAAGAAGCTATGCATAATGCCTGTAGTTTCCCCCAATTCTAAGAGATAGATAGCTATGAGGCAAGAATTAAAAAAAAGGAAGAAAAACCTGGGGCAGTGATGATCTATTCCAGCGTGCCTCCTCACTCAGGGCAAGGACCATATTTGAGTTACTAATAAGGAGACTAAGGCTGAGAGCTGACTTGAGCAAGATCACAAGAGCCCTATCCCTATCCAAAAAAAAATTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGCAGGGCTGGAGTGCAGTGGCGTGATCATAGCTCACAACTCACTGTTGCCTCCACCTCTTGGGTTCAAGTGATCCTCCTACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACCATGCCTGTCCAATTTTTAAAAAACACTCCTAAGAGAATCCCCACAATGAGAGACCAACCAGGGCAAGGTCACCCAAGAGTCCCAGAGAGAATCCAGGTTTTCCGACCACCAACCCAGCCGCCTGTCCAGTACATGATGATGCTACTGCAGCTGGAGAGAAAGGAGGAGGAAGGAAGGAGGAGACCCTCAGCTTCAGGTCACTTTCCCTATTACCTGGCTGCCATTCAGGGTCTCTAGTAACAAGGCCAGGTCCCCAAGACGGTCAGCACTCAACCAGAGGGCAGCCTGCAGGCCAACCAGGCGGTGCAGGGCAGACAGCAGCTCCGGCAGAAGGCAGGAAGCACGAAGGACAGAGTCCCACAGCTCCCTGAGCCCCTGTTCCAACCTGGGCCCCTGCTGCTCCTGTGTCTCCAGCACTGTAGAGTATACACACACACATAGACACACACACAGCTGAAGTAGCACCTCATCCTCCATCTCCCCACACACTCTGGCTTTCCTCTCCTGCAGGACCCCAAAGGTCACAATAATAATACCTCAACCTGGTCTGAAGAGCACAGAGAAGGGCACCTCTCTCCATGGAGGTGACAGATGTTGTTTATCCTCCCATCTCCCTGCAATAACTTAAACCCAGACTGAAGATGGCAGGGGAATCAGGGACAATCTCTGGCCCTCACCTCTCTCTAGGCTCCGCTGGATATCCTGGGCCTGATCCTCTGTGAAACCCTGGGCCAAGCTTGCCCTCAGGATAATGAAGTTGCAGGTGACAGTCAGCTCCAAGGGAAGAACAGGAACAGCTGCAGGGAGCCCTGGAGCAACAATGTTGGTCTTACAGACTGCTCCCCCATGGAAGATCCTCCAAATAAAATCCCAACTCAGAGATCACCCCACTCCAACCAAAACAGCTACAATAAAGAACCCACCCTCCAGCCAATTAGCTAAGGATTTAAAAAAAGAACCCAACCTTTGGACAGAGAGTCTGGAAAGGGCAAAAAAGTTATCCAGATCAGACCATCTTGGAAACCATTTTTCAAATGCCACTCTGTGAGTGTGTAAGGAAGAGAGGGATTTGCCTGTACAAAGATGATTCCACTCCAGTCTCCTCTGTGCCTTAAACAGGACTCCCTGCCCCGAGTAATTATATCGATCCCAAAAACGCAGGAGCGGATGTTTCTCTGGCTATGGAAGAGGGGAACTGACCATCCTGGGGAGGACCCGCCTACCTTGCAGACTATGGAGGAGCCCTCTGAGCCCTTCCAGTGCATCCTGAGCCAACTGCTGTCGCCTCAGAGTCAGACCGGAGTTCTGAGCCACCTGCCACATGAGGGAGGGGTTGTCACTGAGGATCAATCCTTTTTTCTCCCCTTGCAGCAGTGGCAAGGGATGCATTCTCCAGTCATTTCTGGCTCTTTGGTCAAGCTCAGTCCCTCCCCATCGGTTGGGGTAAATCCACTGCAAACCCGCTTTCAGGGATCTTGAGGCTGCAAACCGAGGGTGCCAGCAACCGTGTTACCTTGGCCTGTCGAACGAGCCGGTCATTCTTTTCCCTCCACAGGTCCAGGCAGCTGGAGCCCACAGAGGTGGTCTGGCGGGACATGGTGGCCGAGGCTGGGCCCGGAGACCAGAAGCGGACTTAGGAAGGGTGAAGCTGGCCTGCCCAAGCTCCCAACCCCAGCGGGGAGGGGCCTGGGCACTTCTGCACCCCGCCGAGCTCCCCTGCTTCTCTCGGGGTCCCAATCCACCCGCCCAGGCTTTCCAGGACAGATGGGACGCTCTCTCCCCGCGGCCCGCCGGGCTCTCAACCTCGCCTCTGGTTGGCCGGGTCTGCGAAGCTCTGGGCTGCGGTTGGTCCTCTTGAAGAGTTAGTTCCCGCGGGAAACTCGGGGAGGAAACGAGTCAGCAACCCCAAACAGGCTTAGGCGGGCTAGAAGCCGGGGTCGTGTCTGACTGGGGCAGTCGCACGGCCGGCGGTGCGGCCCGCTCGGCTCTCGCGGAGGCCACAGCCTCGAGAAAGGGTGGGCGGGAGCGAGTTTCGGCCCCACAGTCCGTGGCTCGGCCCTTCCTCGCTGCCACACCCCCAGGTCCTCCTGGGTTCCCGCTTCCACCGAGGGCCGACTGCGAGGTGCATGCTGGGAGTCGTAGTACCGCACCGGGGCGGAACAGCTCCGCCCCGGCGGATGGTGTTTCCAGAAAGCGGTAACTGGAGACGAGGGCGCTCCGTAATCGTCCATCCTTTCTCTGCTCACTGTCGAGCACCAACACGCTCACCAAGGTCGGCTTTCTACCGCGTGTAGTCTGCTGGCAGTGCCGCTCTGTACTTGCACTGCTCAAAAGTACCTGCCCAATCATTTCAAATTAAATGGAGCTAGGAGAATTGAATATCCATATGCAAAAAAAAAAAAAAAAAAAGACAGGAAAGAAAAGAACGCGACCATACATACGTACATAAAATCAACTCAATGGATCACAAACTAAATATAAGAGCCAAAAATATAAAACTTCTAAAAGAAAACGTAAAGCAGCCTAACTAACATGGTGAAACCTTCTCTACAAAAATACAAAAATTAGCAGGGCGTGGTGTCGTGCGCCTGTAATCCCAGCTACCCCGGAGGCTGAGGCGGAAGAATCGCTTGAACCCGGGTGGCGGAGGTTGCAGTGAGCCGACATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAACGTAAGAGAACAGCTTTATGACCTTGGGTTTGGCAACAAGTTGTTAGACACAGCACTAAAAGCTTGTACAATTTAAAAAAAAGTTAACTTTATTAAAATTAAAAACTCTTGTACTACAAAGACATCATTAAGAAGTCATACGCTGGGGCCGGGCGCCGTGGCTCACGCCTGTGATCCCAGCACTTTGGGAGACCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCATGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGATGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAAGGCGTGAACCCCGCGGGCCAGAGCCTGCAGTGAGCCGAGATCGCCCCACTGCACTCCAGCCTGCGCAACAGCGAGACTCCATCTCAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAGAAAAATCATAGGCTGGATGTGGCTCATGCTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTCCCTGAAGCCAGGAGTTCAAGACCAGCCTAGGCAACAAAGATGGTGTCTTTTGTAGAGACATTATCTCTACAAAAAATTTAAAACATTAACCCTGGCACAATAACACACCTGTAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGAGCCCTTGAGCCTAGGAGTTCCAGGTTGCAGTGAGCCATGATCACACCACTGCCCTCCAGCCTGAGTAACAGAGTGAGACCCTGCCTCAAAAAAAGAAAGGTCACAGTCACAGAGTGGGAGAAACTACTTGCTAATTATATACCTCATAAGGGACTGGTATCCCTAACACAT
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GGACAACCAGAAGCTCCAAGCCTACAACCTCCTCGTCTTCTCCTATCTCCATCTATCCTGGCTAGACCTTGAGCTCAAGGGTCCTCTTGATCCTTGAGGACACAGGCCTCAGCTACCCTTACAAAGCAAGAAGCTATGCATAATGCCTGTAGTTTCCCCCAATTCTAAGAGATAGATAGCTATGAGGCAAGAATTAAAAAAAAGGAAGAAAAACCTGGGGCAGTGATGATCTATTCCAGCGTGCCTCCTCACTCAGGGCAAGGACCATATTTGAGTTACTAATAAGGAGACTAAGGCTGAGAGCTGACTTGAGCAAGATCACAAGAGCCCTATCCCTATCCAAAAAAAAATTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGCAGGGCTGGAGTGCAGTGGCGTGATCATAGCTCACAACTCACTGTTGCCTCCACCTCTTGGGTTCAAGTGATCCTCCTACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACCATGCCTGTCCAATTTTTAAAAAACACTCCTAAGAGAATCCCCACAATGAGAGACCAACCAGGGCAAGGTCACCCAAGAGTCCCAGAGAGAATCCAGGTTTTCCGACCACCAACCCAGCCGCCTGTCCAGTACATGATGATGCTACTGCAGCTGGAGAGAAAGGAGGAGGAAGGAAGGAGGAGACCCTCAGCTTCAGGTCACTTTCCCTATTACCTGGCTGCCATTCAGGGTCTCTAGTAACAAGGCCAGGTCCCCAAGACGGTCAGCACTCAACCAGAGGGCAGCCTGCAGGCCAACCAGGCGGTGCAGGGCAGACAGCAGCTCCGGCAGAAGGCAGGAAGCACGAAGGACAGAGTCCCACAGCTCCCTGAGCCCCTGTTCCAACCTGGGCCCCTGCTGCTCCTGTGTCTCCAGCACTGTAGAGTATACACACACACATAGACACACACACAGCTGAAGTAGCACCTCATCCTCCATCTCCCCACACACTCTGGCTTTCCTCTCCTGCAGGACCCCAAAGGTCACAATAATAATACCTCAACCTGGTCTGAAGAGCACAGAGAAGGGCACCTCTCTCCATGGAGGTGACAGATGTTGTTTATCCTCCCATCTCCCTGCAATAACTTAAACCCAGACTGAAGATGGCAGGGGAATCAGGGACAATCTCTGGCCCTCACCTCTCTCTAGGCTCCGCTGGATATCCTGGGCCTGATCCTCTGTGAAACCCTGGGCCAAGCTTGCCCTCAGGATAATGAAGTTGCAGGTGACAGTCAGCTCCAAGGGAAGAACAGGAACAGCTGCAGGGAGCCCTGGAGCAACAATGTTGGTCTTACAGACTGCTCCCCCATGGAAGATCCTCCAAATAAAATCCCAACTCAGAGATCACCCCACTCCAACCAAAACAGCTACAATAAAGAACCCACCCTCCAGCCAATTAGCTAAGGATTTAAAAAAAGAACCCAACCTTTGGACAGAGAGTCTGGAAAGGGCAAAAAAGTTATCCAGATCAGACCATCTTGGAAACCATTTTTCAAATGCCACTCTGTGAGTGTGTAAGGAAGAGAGGGATTTGCCTGTACAAAGATGATTCCACTCCAGTCTCCTCTGTGCCTTAAACAGGACTCCCTGCCCCGAGTAATTATATCGATCCCAAAAACGCAGGAGCGGATGTTTCTCTGGCTATGGAAGAGGGGAACTGACCATCCTGGGGAGGACCCGCCTACCTTGCAGACTATGGAGGAGCCCTCTGAGCCCTTCCAGTGCATCCTGAGCCAACTGCTGTCGCCTCAGAGTCAGACCGGAGTTCTGAGCCACCTGCCACATGAGGGAGGGGTTGTCACTGAGGATCAATCCTTTTTTCTCCCCTTGCAGCAGTGGCAAGGGATGCATTCTCCAGTCATTTCTGGCTCTTTGGTCAAGCTCAGTCCCTCCCCATCGGTTGGGGTAAATCCACTGCAAACCCGCTTTCAGGGATCTTGAGGCTGCAAACCGAGGGTGCCAGCAACCGTGTTACCTTGGCCTGTCGAACGAGCGGGTCATTCTTTTCCCTCCACAGGTCCAGGCAGCTGGAGCCCACAGAGGTGGTCTGGCGGGACATGGTGGCCGAGGCTGGGCCCGGAGACCAGAAGCGGACTTAGGAAGGGTGAAGCTGGCCTGCCCAAGCTCCCAACCCCAGCGGGGAGGGGCCTGGGCACTTCTGCACCCCGCCGAGCTCCCCTGCTTCTCTCGGGGTCCCAATCCACCCGCCCAGGCTTTCCAGGACAGATGGGACGCTCTCTCCCCGCGGCCCGCCGGGCTCTCAACCTCGCCTCTGGTTGGCCGGGTCTGCGAAGCTCTGGGCTGCGGTTGGTCCTCTTGAAGAGTTAGTTCCCGCGGGAAACTCGGGGAGGAAACGAGTCAGCAACCCCAAACAGGCTTAGGCGGGCTAGAAGCCGGGGTCGTGTCTGACTGGGGCAGTCGCACGGCCGGCGGTGCGGCCCGCTCGGCTCTCGCGGAGGCCACAGCCTCGAGAAAGGGTGGGCGGGAGCGAGTTTCGGCCCCACAGTCCGTGGCTCGGCCCTTCCTCGCTGCCACACCCCCAGGTCCTCCTGGGTTCCCGCTTCCACCGAGGGCCGACTGCGAGGTGCATGCTGGGAGTCGTAGTACCGCACCGGGGCGGAACAGCTCCGCCCCGGCGGATGGTGTTTCCAGAAAGCGGTAACTGGAGACGAGGGCGCTCCGTAATCGTCCATCCTTTCTCTGCTCACTGTCGAGCACCAACACGCTCACCAAGGTCGGCTTTCTACCGCGTGTAGTCTGCTGGCAGTGCCGCTCTGTACTTGCACTGCTCAAAAGTACCTGCCCAATCATTTCAAATTAAATGGAGCTAGGAGAATTGAATATCCATATGCAAAAAAAAAAAAAAAAAAAGACAGGAAAGAAAAGAACGCGACCATACATACGTACATAAAATCAACTCAATGGATCACAAACTAAATATAAGAGCCAAAAATATAAAACTTCTAAAAGAAAACGTAAAGCAGCCTAACTAACATGGTGAAACCTTCTCTACAAAAATACAAAAATTAGCAGGGCGTGGTGTCGTGCGCCTGTAATCCCAGCTACCCCGGAGGCTGAGGCGGAAGAATCGCTTGAACCCGGGTGGCGGAGGTTGCAGTGAGCCGACATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAACGTAAGAGAACAGCTTTATGACCTTGGGTTTGGCAACAAGTTGTTAGACACAGCACTAAAAGCTTGTACAATTTAAAAAAAAGTTAACTTTATTAAAATTAAAAACTCTTGTACTACAAAGACATCATTAAGAAGTCATACGCTGGGGCCGGGCGCCGTGGCTCACGCCTGTGATCCCAGCACTTTGGGAGACCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCATGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGATGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAAGGCGTGAACCCCGCGGGCCAGAGCCTGCAGTGAGCCGAGATCGCCCCACTGCACTCCAGCCTGCGCAACAGCGAGACTCCATCTCAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAGAAAAATCATAGGCTGGATGTGGCTCATGCTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTCCCTGAAGCCAGGAGTTCAAGACCAGCCTAGGCAACAAAGATGGTGTCTTTTGTAGAGACATTATCTCTACAAAAAATTTAAAACATTAACCCTGGCACAATAACACACCTGTAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGAGCCCTTGAGCCTAGGAGTTCCAGGTTGCAGTGAGCCATGATCACACCACTGCCCTCCAGCCTGAGTAACAGAGTGAGACCCTGCCTCAAAAAAAGAAAGGTCACAGTCACAGAGTGGGAGAAACTACTTGCTAATTATATACCTCATAAGGGACTGGTATCCCTAACACAT
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Task1_train_12809
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The variant affects gene PIGO (phosphatidylinositol glycan anchor biosynthesis class O), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Hyperphosphatasia with intellectual disability syndrome 1
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GGCCAGAATCTAGAGGAGGAGAGGAGGGGCCACGTTACTTGTGAAGGAGAGGAGGAAGCGGAGCAAAAGGAGAGTTTCTATAGGCCCCTGTAAAAAATGGAAGCAGGAGAATAGTGCATGTCAGTGGAAAAAATATTGCATGTCCTGGGCTAGGAGTTAGGAGACCTACTTCCTGCCCTGCCCCAAGCACTGACTCACTATGTGACTTTGGGCAAGTCAGTATCCATCTGCAATGCTAACACTCAGGCTGTGCCCCCAGGATGGAGGAAGATATCAGTGCCACATCTGCCTCTGGAGGAAAGGAAGAGGATCCATGACCACAGTTTGGGAAGAAAATCCTGGCTATCACCTCAGTTTTTCCAGTCTGTCCACTGATAGAGTAATCCTCAAATGCAACTAGCGGGGTCCAGATCTAGGTTGTAGAGGGGAAATGATCCAGGACTAGGATTAAGGAGACCCAGGTTCAAGTCTCAGAACTGCCATTTGAGGCCACTGGGCTTGGGCAACCACTTCACTTATGTGAAACTCAGTCAAGGCTCTCTCCCACGGTTTTGAAGGTCTGAAAGAAAGTGATGCACACACAGAGAAAAAACACCAACTCCCTGATCTCTCTCCTACACCCACCTGAATACCAAGGATAAAGAGGTACTTGAGGCCCAGCTGCAGCAGTGCTGCATAGAAGTGCTGAGGCGCATCCCGGAGCCGCATCTCCATCAGTGGCTCCTCTTCCTCCTCGGGTCTGACTCTGGCATCAGCTTCATTCCCTGGGGGCTGCTGTCTCTTCCGCAGCCCTTGACTCTCACACAGGAAAGGCCAGAGCAGGAGCAGTGGGCAACCTACTGCCTCAAGAGAGGGTATGGCTGGAATCAACAGGCCACCCTGGCTGGCTCAGGTTCCAATTAGCCTAGGCCAAGGGGTGCCAAAGATCCAACAAACCCATATCTCTCCATTCAAATCCAGGGGTTTCCTTTCTTTCCACAAAGCCAGAGTAAACAATGGAAGCAAGTGAAGGAGGAGGGGGTACCTGCAAAGAGGAGGTGGGAGGCAAAGGTGTTGGCTCCCACTAGCAAAGCAGGCAGCCAAGTACAGGAGCCATGACCCTCTGGGAATCCCACGAAGGCTGCATGCCAATGGATGGCTGGAAAGACAGGCTGGTGGCCTGTGGAGTAGAAGGTCTGTGTGGCCATGAGGGCCCAAGCCGAGACTGCCTGCCATGGCACAGTAAAAGGACCTGGAAGAAAAGATATGCCACGTTACAGTCACTTCTTATTCCCTAATCCATAGGCTACTGCTCCACAATCATATACTCCTACTACTTCAGTATCAATTCTCATACACACTCAAATGCCTATCAGCCCAACCTCCTTACAGTCAACATTCTGTTATTCTAATTCTCTCTGTGGTACAAAAGCGCCATCAGGCTTATCTGAATCCTGCTATGGCCAATCTCTTTCTTTCTCTCAAACACATACAGCTCAGTGCCATTATATATTCACAATTTACTACTTCCATCACTGGAAAATCAAGAAATGTGCTCATGAGGATGCAGCATTTCCACAGGGAGTCTTAGAGGACTCCTTGTCTCTCCTCTCCATGAACCCTGGGAACCAACAGGAGGGATCAATTTGCTTGGCTATGGCAGGTAAGAGAGAGGACACCAAGAAGACCTTCCTAGTTGTGTGGGGCATGGGACCCTCTGTCAAGCTCAGGAACATGAGGAGCAACACCTCCTTGAAAACAAGAGGGGCCGAACTCACATCACTATTGTCTTTAAGTGAATCAGAGCTGAGATATTTACCAGGGGTGGTGACGGGTATCCCAGCAGCAAGCAGATGTAGGAGAAGGAAGCTCTGCAGAAACAGAAGCAGGAACACAAGGCTGATGCGCTCCGCATGCAACAGCAGAAGTGGGAAGGCCAACAGGGTGAGGGCTGTGACCATAGCAGCTGAGTAGACACTCCCCAACTGATAAGCAGCCACAGTCAGGGGACCCTGAGATTTGGTCCTCTCTAACCGGCCCCGGAACTCCTCCTGCATGTGTCGGTAGATTTGAGGGACCACATAATCCAAGTCAGCTTGAGAAGTGGGGGGGCCTGAGAAGGGAGTGAGGACAGTCCTGGTCCTTGGAGCGCCTGCCCCAGCCTTCACCAGCACTGTCACAGGCTTCCAGAGCAGCAGCGCGAGCCCTGAAGCAGCCAGCCCTGCTACAGCCCGAGGCAGCACCATGGATGCCCCAGAGACCAGGACCCGGAGACGGGGGGGAGCCTCATCTGCCCCCGACGCCAATGCCCAGTAGGCAGCAGTACCCAATGCCATTAGGGGCAGTCCCCAGCGCACAAAGAGCATGGGTGGCTCGGGGCTCTTGAGATTACCATAGCGGCGAAGCCACAAGCGCACGGCAGCTAACAGGGCCACCAGCGCCGCCACACAAGCTCCATACCACAAATTCTTGGCTCGACCACCCACCATGGATGCCAGAGGACTCAGCCAGGGAGAGGAGTGGCAAACAGGTGTCTCTTCAGGGCAACGATGAAAAAGCCCAGCTAGCCTTGTACATAAAAGCAACCCAATTCCAAGCCTCAGGGCATATGCACCATTGTGCCGTGGGGGGTTTGTTGTGGCTGAAGTGCCAAGGCGGGGCATTGTGAGTAGCTTAGGTGGAAGCAGCTGGCCCTCCCAGTGAAGCTGGACAACCAGGAGCAGGATGAATGAGCCCAAAAGGAAGGGGGTGGCCCTGGCCTCAGCTACAACAAAACTATCAGAGAAGAACACAGCCAAGCGAAACAGCAGGAGTAACAGGACGGGCCCAGGGATGGGAAACAGGGTTGCCAGGGGCCTCTTGGACCCCCAGCCAGCCCAGGCTTTCCACAGAAAAGGGAGGAATGAGCTCACTGCAGCCACAGCCCCTAGAAGCACTAGATCTAGCTTCAGCTCAATAGTTCCCAGGAGTCCAGCATACGCTATGGCCCCAACCAGGCCCCAGGCCACAGGTGTCAGGAGTAGAGGGCAGAATGGAAAGCCTGGGGATATTGCCCACTGAGATGCCAGCAGGCAGATAAAGCAGGAAGCAGCCAAGAGAGCAGTACCCCCCGCCATGCGGACCAGAGAGAAACGAGCCCAAGACTCGATGCACATGGCCCGAGCTCCCCGCAGGAACTGCTGCAGCTCAGCAATCACAGTCGGCAGTGTCGCCTCAGCCCCCTTGGGGCTCTGGAGAAGCCACTGGTAGTCAGCAGAGGCCTTGGAGAAGAGGTTCTGCAGCTGATGAAGCTCCTTAGCTTGAAGGTCCTGAGTAGCAGCTGAGTAGGTATGAAGAAATCGGGACACCTGGCAGAGAAAAGGTCAGAGGCCAAGGGGAACAGGTCAGAGACATAAATTGGGGCAGAGGCAAGAATAGGTATTACAAAAGGGGGTACCTGGAAGTCAAGGACCCAAACTCTGTCCAGAATCGGGGAAGGGAGGGATAACGGAAGAGGGATAGGTATGGAAGGTGGGACTAAGACTAGTCAAAGGACAAAAGAGTGGTTCATTATGCTTCTTTCATGCCCACCCTAGCTCTGTCACCTGGAAACCCAGCCCGCTTACCTACCTGCTGAGCATTGAGATGGAGAGCTGAGGCTTGGGCTAAAGCAGAGGAGTGGGGCTGGGAGTCCTCACCCCCTGAGAATAGCTCAGCCATCACTTCCCCGATATTCCCAAATGGGATGGGCAGGCCCAGCAGCAGGGCCAGCGTGGGCACAAGGCTAACTTGAGGAATCACCTCTGGCTCCTAAAGGAAAATGACAGTGGTCAACAGATTCATCACAAAGCTGAAGTCAATGTTTGGGATGGCAGACATAGGGGCCTAGGTAAGAAATGAGAGTGGAGGATACCCAGGATCATGGATTTGGGGGCCTAAAATAGAGGTATTCATGAGGATGCTGTAATGGTAACATGGGCTGATTACTGGGAGAACAGATGAGGAACATCCCAGGCCTCACCTCTGGTGGGGTGCTGGGGAAGACTGCTGTGGGGCTATACAGAAAGAGAGCAGCTGAGACCTCCAGCTCACTGTCCCCTCCATGGTCTCCATTTGTGGTCATCCCATGGTCCCCAGC
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GGCCAGAATCTAGAGGAGGAGAGGAGGGGCCACGTTACTTGTGAAGGAGAGGAGGAAGCGGAGCAAAAGGAGAGTTTCTATAGGCCCCTGTAAAAAATGGAAGCAGGAGAATAGTGCATGTCAGTGGAAAAAATATTGCATGTCCTGGGCTAGGAGTTAGGAGACCTACTTCCTGCCCTGCCCCAAGCACTGACTCACTATGTGACTTTGGGCAAGTCAGTATCCATCTGCAATGCTAACACTCAGGCTGTGCCCCCAGGATGGAGGAAGATATCAGTGCCACATCTGCCTCTGGAGGAAAGGAAGAGGATCCATGACCACAGTTTGGGAAGAAAATCCTGGCTATCACCTCAGTTTTTCCAGTCTGTCCACTGATAGAGTAATCCTCAAATGCAACTAGCGGGGTCCAGATCTAGGTTGTAGAGGGGAAATGATCCAGGACTAGGATTAAGGAGACCCAGGTTCAAGTCTCAGAACTGCCATTTGAGGCCACTGGGCTTGGGCAACCACTTCACTTATGTGAAACTCAGTCAAGGCTCTCTCCCACGGTTTTGAAGGTCTGAAAGAAAGTGATGCACACACAGAGAAAAAACACCAACTCCCTGATCTCTCTCCTACACCCACCTGAATACCAAGGATAAAGAGGTACTTGAGGCCCAGCTGCAGCAGTGCTGCATAGAAGTGCTGAGGCGCATCCCGGAGCCGCATCTCCATCAGTGGCTCCTCTTCCTCCTCGGGTCTGACTCTGGCATCAGCTTCATTCCCTGGGGGCTGCTGTCTCTTCCGCAGCCCTTGACTCTCACACAGGAAAGGCCAGAGCAGGAGCAGTGGGCAACCTACTGCCTCAAGAGAGGGTATGGCTGGAATCAACAGGCCACCCTGGCTGGCTCAGGTTCCAATTAGCCTAGGCCAAGGGGTGCCAAAGATCCAACAAACCCATATCTCTCCATTCAAATCCAGGGGTTTCCTTTCTTTCCACAAAGCCAGAGTAAACAATGGAAGCAAGTGAAGGAGGAGGGGGTACCTGCAAAGAGGAGGTGGGAGGCAAAGGTGTTGGCTCCCACTAGCAAAGCAGGCAGCCAAGTACAGGAGCCATGACCCTCTGGGAATCCCACGAAGGCTGCATGCCAATGGATGGCTGGAAAGACAGGCTGGTGGCCTGTGGAGTAGAAGGTCTGTGTGGCCATGAGGGCCCAAGCCGAGACTGCCTGCCATGGCACAGTAAAAGGACCTGGAAGAAAAGATATGCCACGTTACAGTCACTTCTTATTCCCTAATCCATAGGCTACTGCTCCACAATCATATACTCCTACTACTTCAGTATCAATTCTCATACACACTCAAATGCCTATCAGCCCAACCTCCTTACAGTCAACATTCTGTTATTCTAATTCTCTCTGTGGTACAAAAGCGCCATCAGGCTTATCTGAATCCTGCTATGGCCAATCTCTTTCTTTCTCTCAAACACATACAGCTCAGTGCCATTATATATTCACAATTTACTACTTCCATCACTGGAAAATCAAGAAATGTGCTCATGAGGATGCAGCATTTCCACAGGGAGTCTTAGAGGACTCCTTGTCTCTCCTCTCCATGAACCCTGGGAACCAACAGGAGGGATCAATTTGCTTGGCTATGGCAGGTAAGAGAGAGGACACCAAGAAGACCTTCCTAGTTGTGTGGGGCATGGGACCCTCTGTCAAGCTCAGGAACATGAGGAGCAACACCTCCTTGAAAACAAGAGGGGCCGAACTCACATCACTATTGTCTTTAAGTGAATCAGAGCTGAGATATTTACCAGGGGTGGTGACGGGTATCCCAGCAGCAAGCAGATGTAGGAGAAGGAAGCTCTGCAGAAACAGAAGCAGGAACACAAGGCTGATGCGCTCCGCATGCAACAGCAGAAGTGGGAAGGCCAACAGGGTGAGGGCTGTGACCATAGCAGCTGAGTAGACACTCCCCAACTGATAAGCAGCCACAGTCAGGGGACCCTGAGATTTGGTCCTCTCTAACCGGCCCCGGAACTCCTCCTGCATGTGTCGGTAGATGTGAGGGACCACATAATCCAAGTCAGCTTGAGAAGTGGGGGGGCCTGAGAAGGGAGTGAGGACAGTCCTGGTCCTTGGAGCGCCTGCCCCAGCCTTCACCAGCACTGTCACAGGCTTCCAGAGCAGCAGCGCGAGCCCTGAAGCAGCCAGCCCTGCTACAGCCCGAGGCAGCACCATGGATGCCCCAGAGACCAGGACCCGGAGACGGGGGGGAGCCTCATCTGCCCCCGACGCCAATGCCCAGTAGGCAGCAGTACCCAATGCCATTAGGGGCAGTCCCCAGCGCACAAAGAGCATGGGTGGCTCGGGGCTCTTGAGATTACCATAGCGGCGAAGCCACAAGCGCACGGCAGCTAACAGGGCCACCAGCGCCGCCACACAAGCTCCATACCACAAATTCTTGGCTCGACCACCCACCATGGATGCCAGAGGACTCAGCCAGGGAGAGGAGTGGCAAACAGGTGTCTCTTCAGGGCAACGATGAAAAAGCCCAGCTAGCCTTGTACATAAAAGCAACCCAATTCCAAGCCTCAGGGCATATGCACCATTGTGCCGTGGGGGGTTTGTTGTGGCTGAAGTGCCAAGGCGGGGCATTGTGAGTAGCTTAGGTGGAAGCAGCTGGCCCTCCCAGTGAAGCTGGACAACCAGGAGCAGGATGAATGAGCCCAAAAGGAAGGGGGTGGCCCTGGCCTCAGCTACAACAAAACTATCAGAGAAGAACACAGCCAAGCGAAACAGCAGGAGTAACAGGACGGGCCCAGGGATGGGAAACAGGGTTGCCAGGGGCCTCTTGGACCCCCAGCCAGCCCAGGCTTTCCACAGAAAAGGGAGGAATGAGCTCACTGCAGCCACAGCCCCTAGAAGCACTAGATCTAGCTTCAGCTCAATAGTTCCCAGGAGTCCAGCATACGCTATGGCCCCAACCAGGCCCCAGGCCACAGGTGTCAGGAGTAGAGGGCAGAATGGAAAGCCTGGGGATATTGCCCACTGAGATGCCAGCAGGCAGATAAAGCAGGAAGCAGCCAAGAGAGCAGTACCCCCCGCCATGCGGACCAGAGAGAAACGAGCCCAAGACTCGATGCACATGGCCCGAGCTCCCCGCAGGAACTGCTGCAGCTCAGCAATCACAGTCGGCAGTGTCGCCTCAGCCCCCTTGGGGCTCTGGAGAAGCCACTGGTAGTCAGCAGAGGCCTTGGAGAAGAGGTTCTGCAGCTGATGAAGCTCCTTAGCTTGAAGGTCCTGAGTAGCAGCTGAGTAGGTATGAAGAAATCGGGACACCTGGCAGAGAAAAGGTCAGAGGCCAAGGGGAACAGGTCAGAGACATAAATTGGGGCAGAGGCAAGAATAGGTATTACAAAAGGGGGTACCTGGAAGTCAAGGACCCAAACTCTGTCCAGAATCGGGGAAGGGAGGGATAACGGAAGAGGGATAGGTATGGAAGGTGGGACTAAGACTAGTCAAAGGACAAAAGAGTGGTTCATTATGCTTCTTTCATGCCCACCCTAGCTCTGTCACCTGGAAACCCAGCCCGCTTACCTACCTGCTGAGCATTGAGATGGAGAGCTGAGGCTTGGGCTAAAGCAGAGGAGTGGGGCTGGGAGTCCTCACCCCCTGAGAATAGCTCAGCCATCACTTCCCCGATATTCCCAAATGGGATGGGCAGGCCCAGCAGCAGGGCCAGCGTGGGCACAAGGCTAACTTGAGGAATCACCTCTGGCTCCTAAAGGAAAATGACAGTGGTCAACAGATTCATCACAAAGCTGAAGTCAATGTTTGGGATGGCAGACATAGGGGCCTAGGTAAGAAATGAGAGTGGAGGATACCCAGGATCATGGATTTGGGGGCCTAAAATAGAGGTATTCATGAGGATGCTGTAATGGTAACATGGGCTGATTACTGGGAGAACAGATGAGGAACATCCCAGGCCTCACCTCTGGTGGGGTGCTGGGGAAGACTGCTGTGGGGCTATACAGAAAGAGAGCAGCTGAGACCTCCAGCTCACTGTCCCCTCCATGGTCTCCATTTGTGGTCATCCCATGGTCCCCAGC
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Task1_train_12810
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Located on Chromosome 9, this mutation impacts TPM2 (tropomyosin 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Congenital myopathy 23
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GATGGGGCCACACGTGCCCACATGCAGTGGTGAATCAGAGAGCGACAGCCAGGGAGTGCCTGTGCAGAGGGGTTTCAGCGTGGGCCATGGTGTTTTGTGGGTGGGCTCAGTGCAGGGGCTGGGGGTGTCAGTAAGTGCCAGGGTGTCAGGAGTGAACCAGTGCTCCGTGGTGGCGATAGAGGTGCTCTCTGGAGGGCAGGAAAACAGCATGGAGACCAAGTTCAGAATTTATTAAGCAGCAAAGGAGGGTGGAAGGGGATAGGTAAAGGATGAAGCCAGTGCCAGAGTGGGTGGTGGGCATGATGGGGGCTCTCCCTAGGCTGCTCCCAGCCTGGCTGTGCAATGTTGGCAATTTCTGCTCCTCCTGCCTGCTCCCCTCCCCATAGAGAGAATGGAAAGGAGAGGAGAGAAGAGAGCTGAGGTGGCCACGCTGGCGTGGGGCTCAGAGGGAGGTGATGTCATTGAGTGCGTTGTCCAGTTCCTCGCTAATGGCCTTGTACTTCATCTTCTGGGCATAGACTTCATCTGGGGGGGGTCCAGGGAGGGGACCAGGTGGGAGTGTGGGAAAGGGAGTGGAGGGAAAGAGGAAAGGAAGGAGAGAGAGCAATGGAAAGAAAAACAGAATCAGAGGTACACAAAGACAGAGTGAGAGAGGGAGGCCAGGGAACAGGCTGGACAGCTGTCAGGAACTCCTTCTCCCCATCTCTACCCCATCTCTTTTCTGTCCTTCTCTGTACCCCAAATTGGCTCTACCCATGGCAGCTCCTGCCTCTCCAGGGAGCTGTGTGTACAATGCTCTCGACAAGCAGGAGTGCTTGCTTAGAGGGGAGAGGGAGGGTGCTGGAGCCAGAAAGGGCAAACCTCCTAAAGCTGGAGGTAAAATTGGAGCTTGCCTGAGAAGGCTGGAAGCGAGAGAAGTGGGAAAGTGAAAGGGTTATCACAGAATAAAAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATGTTCAGTCCAACAGCTCTCTAGTTAATAAGCCAGTCTCTGCACTAGAACTCTACTGCGTTACACTCGGGGACGGAATTGTCTATAAGGGTGCCACTCAGAGTGTGGCATGAGGACCAGCAGCATTGGCAGTACCAGAGAACTAGCTAGAAATGTAAATCCTCCAGCCCAAAGTCAGCAATCTCTTTGGGGCAGAGTCAAGGAATCTGTTTTTAAAACTCTCCCAGTGATTCTCATGCATGCTGAAGTTTGAGAAGCACTGGAGTTGTTGCGCCGTGGGCAGCTACAATTACTTGAATTGTAGACATGGCCCACAGAGTTGGGGAGTTGGTAGGGTCCTAGGTGGCCCAACCCTAGTTTATTGGTGGCAAATAAAATGGGATGAGAAGGTACAGGACAGACTGATAATCACGGCAGGTGTGGACCTACTTATAAAGGCTTCTTTTACCTTCTAGGTCATCGATGGTTTTCTCCAACTTTGCCACAGACCTCTCGGCAAACTCTGCTCGGGTCTCAGCCTGGGGGTAAAGGCAGGATGGGAGAAATGGCAAAGAATTAGGCCCTCCCACAGACTACTGCCTAAGTCAAGCTTCTTGTCCATCCCAACCCTCAAGTGTCCTGCCACAGGCCGTCTCTGGCAAGGATTAGGGTGGCTTGAGGGGAGACTGGGAACTGGAAGAGGACTCTCACCTCCTTCAGCTTCTCCTCCAACAGTTTGATCTCCTCTTCATATTTATCTTCTTTGGTGGAATACTTTTGGGGACACACACACGCCATCAGTACAGCGCTACCACAGATCCTTCATTTCTCCATTGTACCCCGTAGGCTCCTGGTCATCTTGCCTCCGTTGAACACCCAGCCCCTCCCTGCCTTGGGCCCCTCACCTCCCTCCCCTGTGGGACCCCATCCTCACTGCCCCTCTGCTCCCCTCTACCTTGTCCGCCTGGGCCTCCAGGGATTTCAAGTTGTTGGTAACAATTTTCAGCTCCTCCTCTAGGTCCCCACATTTACTGCAGGGGGTGTGTGGCGGGGGGGGCAGGGTGTGAGGGCACAGCGAAGCCAGACAGTGGAGATGGCACAGCAGGGGACGGGTGGAGGAGAGAAGAGAAGAGCAAAGTTGTGAGAGTGACAGCAGGCAGGGCTCAGAAGCCCCAGGCCCTTCCTGATCCCCAGCAGCTGAGAAAGAGCAGCCTGCGGTGCTGAGACGGAGGGAAGGTGAGCTGAGAGAAGGCGCCATTGCCCAGAAAGGTTCAGAGGGGTCACTACCTCCTCCTCTGAGGCCATCAGGGACTTGAGGGCCTGGTCCATGGTTCGAAGTTCCTCCTCCAGCTGTCTGGCTCGGCTGGGGGCAGCGGGCAGGGGTCAGAGAACAGGGCCTGTCCCTACAGCCCCAAGCCTAGGATGCTACCTTCCCACTGTGTGGAAGGCCCCAGGGCCAATGGGCTCACTTGTCACCCCCGGGTATCTTTACCTCTCGGCCACCTCAGCCCTCTCCTCCGAGCGCTCCAGCTCTCCTTCCAGGATCACCAGCTTCCTGGCCACCTGTGGGGAGTGAGAAAGAGAGGGTAGATCAGTGGAGAAGGACTGGGCATGTTGCAGGCTGGGCAGCGAGCAGGCAGAGGGGCAAGGCTGTCACCTCTTCATATTTGCGGTCTGAATCCTCAGCGATGTGCTTGGCCTCCTTCAGCTGCATCTCCTGCAGTTCCATCTTCTCCTCATCCTTCATGGCCCGGTTTTCGATGACCTTCATTCCTCTGAAAGGCAGGGAGAGGGTGAGCGTAGGGTCAGGACCAGCAGAGACAGGCTCCCTTCTCCCTCCCGGACCATCCTCCCCGAGGCCCCTGACCACCTCTCGCTCTCATCAGCCGCCTTCTCGGCCTCCTCCAGCTTCTGCAGGGCTGTAGCCAGGCGCTCCTGGGCCCGGTCCAGCTCCTCCTCAACCAGCTGAATGCGGCGGTTCAGGGAGGCCACATCTGCCTCAGCCTGTGGGTCAGAGGTCAGGGGTCAAAAAGGCCTTGTTAGCCTTGGATAAGGATCAGAGAGGCTCCAGAGGATGGCGAGATTCTTCTCAGAAAGAACTGAGGCTTCCTGGTTTCTAGACATTCTATGTGATTTTTCCCCAACCAATCATCTTCTGCCCAGACTGTGCTCCAGTAAAAAATGTGCATTCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCCGCACTCTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACTCTGTCTCTATTAAAAATAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGGTCGTGCCACTGCACTCCAGCCTGGGTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATTCCTTGCTTGACAAGCTCCGCTCCCCTGCTGCAGGGCCTCTCCTGCACTGTGCACAGTTAGTCTCCCAAAGGTCACCTGCACACAAGTCCTCCTGTTCCCTGTGGGAGCACTTCAAGTGCTGGGGCCAGGTCTGATGCAGCTCTGATTCCTACACAGCAAAGCCTGGCCCAGGTAAGGGGATGGGAGGAGAATCAGGCCAACCAGACATCACTGCTGCTAAGAATAGCCCGTCACAGAATCAAGCTCAGTGATACTGGGCATGGTGGTGCATGCCTGTCATCCCAGCTACTCCGAAGGCTAAGGCGGGAGTTCAGCTTGACCCCAGGAGCCCTGCCTGGGAAACATAGCAAGATCCCATCTCAAAAAAAAAAAAAAAAAAAAGTATCAAGTTCAGTGATGTCATCTGTCATCAGCTGTAAGGCAGACTCCCAGCAAGAAGCCCAAGAGGCAGGCCTATAAGGAATACCCATGGCTGTAGCAAGGGGCTCCCTGCCAAGGCCAGCAGAGAGCTGGGGGCAATGCAGGGGCAGTGTGAGG
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GATGGGGCCACACGTGCCCACATGCAGTGGTGAATCAGAGAGCGACAGCCAGGGAGTGCCTGTGCAGAGGGGTTTCAGCGTGGGCCATGGTGTTTTGTGGGTGGGCTCAGTGCAGGGGCTGGGGGTGTCAGTAAGTGCCAGGGTGTCAGGAGTGAACCAGTGCTCCGTGGTGGCGATAGAGGTGCTCTCTGGAGGGCAGGAAAACAGCATGGAGACCAAGTTCAGAATTTATTAAGCAGCAAAGGAGGGTGGAAGGGGATAGGTAAAGGATGAAGCCAGTGCCAGAGTGGGTGGTGGGCATGATGGGGGCTCTCCCTAGGCTGCTCCCAGCCTGGCTGTGCAATGTTGGCAATTTCTGCTCCTCCTGCCTGCTCCCCTCCCCATAGAGAGAATGGAAAGGAGAGGAGAGAAGAGAGCTGAGGTGGCCACGCTGGCGTGGGGCTCAGAGGGAGGTGATGTCATTGAGTGCGTTGTCCAGTTCCTCGCTAATGGCCTTGTACTTCATCTTCTGGGCATAGACTTCATCTGGGGGGGGTCCAGGGAGGGGACCAGGTGGGAGTGTGGGAAAGGGAGTGGAGGGAAAGAGGAAAGGAAGGAGAGAGAGCAATGGAAAGAAAAACAGAATCAGAGGTACACAAAGACAGAGTGAGAGAGGGAGGCCAGGGAACAGGCTGGACAGCTGTCAGGAACTCCTTCTCCCCATCTCTACCCCATCTCTTTTCTGTCCTTCTCTGTACCCCAAATTGGCTCTACCCATGGCAGCTCCTGCCTCTCCAGGGAGCTGTGTGTACAATGCTCTCGACAAGCAGGAGTGCTTGCTTAGAGGGGAGAGGGAGGGTGCTGGAGCCAGAAAGGGCAAACCTCCTAAAGCTGGAGGTAAAATTGGAGCTTGCCTGAGAAGGCTGGAAGCGAGAGAAGTGGGAAAGTGAAAGGGTTATCACAGAATAAAAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATGTTCAGTCCAACAGCTCTCTAGTTAATAAGCCAGTCTCTGCACTAGAACTCTACTGCGTTACACTCGGGGACGGAATTGTCTATAAGGGTGCCACTCAGAGTGTGGCATGAGGACCAGCAGCATTGGCAGTACCAGAGAACTAGCTAGAAATGTAAATCCTCCAGCCCAAAGTCAGCAATCTCTTTGGGGCAGAGTCAAGGAATCTGTTTTTAAAACTCTCCCAGTGATTCTCATGCATGCTGAAGTTTGAGAAGCACTGGAGTTGTTGCGCCGTGGGCAGCTACAATTACTTGAATTGTAGACATGGCCCACAGAGTTGGGGAGTTGGTAGGGTCCTAGGTGGCCCAACCCTAGTTTATTGGTGGCAAATAAAATGGGATGAGAAGGTACAGGACAGACTGATAATCACGGCAGGTGTGGACCTACTTATAAAGGCTTCTTTTACCTTCTAGGTCATCGATGGTTTTCTCCAACTTTGCCACAGACCTCTCGGCAAACTCTGCTCGGGTCTCAGCCTGGGGGTAAAGGCAGGATGGGAGAAATGGCAAAGAATTAGGCCCTCCCACAGACTACTGCCTAAGTCAAGCTTCTTGTCCATCCCAACCCTCAAGTGTCCTGCCACAGGCCGTCTCTGGCAAGGATTAGGGTGGCTTGAGGGGAGACTGGGAACTGGAAGAGGACTCTCACCTCCTTCAGCTTCTCCTCCAACAGTTTGATCTCCTCTTCATATTTATCTTCTTTGGTGGAATACTTTTGGGGACACACACACGCCATCAGTACAGCGCTACCACAGATCCTTCATTTCTCCATTGTACCCCGTAGGCTCCTGGTCATCTTGCCTCCGTTGAACACCCAGCCCCTCCCTGCCTTGGGCCCCTCACCTCCCTCCCCTGTGGGACCCCATCCTCACTGCCCCTCTGCTCCCCTCTACCTTGTCCGCCTGGGCCTCCAGGGATTTCAAGTTCTTGGTAACAATTTTCAGCTCCTCCTCTAGGTCCCCACATTTACTGCAGGGGGTGTGTGGCGGGGGGGGCAGGGTGTGAGGGCACAGCGAAGCCAGACAGTGGAGATGGCACAGCAGGGGACGGGTGGAGGAGAGAAGAGAAGAGCAAAGTTGTGAGAGTGACAGCAGGCAGGGCTCAGAAGCCCCAGGCCCTTCCTGATCCCCAGCAGCTGAGAAAGAGCAGCCTGCGGTGCTGAGACGGAGGGAAGGTGAGCTGAGAGAAGGCGCCATTGCCCAGAAAGGTTCAGAGGGGTCACTACCTCCTCCTCTGAGGCCATCAGGGACTTGAGGGCCTGGTCCATGGTTCGAAGTTCCTCCTCCAGCTGTCTGGCTCGGCTGGGGGCAGCGGGCAGGGGTCAGAGAACAGGGCCTGTCCCTACAGCCCCAAGCCTAGGATGCTACCTTCCCACTGTGTGGAAGGCCCCAGGGCCAATGGGCTCACTTGTCACCCCCGGGTATCTTTACCTCTCGGCCACCTCAGCCCTCTCCTCCGAGCGCTCCAGCTCTCCTTCCAGGATCACCAGCTTCCTGGCCACCTGTGGGGAGTGAGAAAGAGAGGGTAGATCAGTGGAGAAGGACTGGGCATGTTGCAGGCTGGGCAGCGAGCAGGCAGAGGGGCAAGGCTGTCACCTCTTCATATTTGCGGTCTGAATCCTCAGCGATGTGCTTGGCCTCCTTCAGCTGCATCTCCTGCAGTTCCATCTTCTCCTCATCCTTCATGGCCCGGTTTTCGATGACCTTCATTCCTCTGAAAGGCAGGGAGAGGGTGAGCGTAGGGTCAGGACCAGCAGAGACAGGCTCCCTTCTCCCTCCCGGACCATCCTCCCCGAGGCCCCTGACCACCTCTCGCTCTCATCAGCCGCCTTCTCGGCCTCCTCCAGCTTCTGCAGGGCTGTAGCCAGGCGCTCCTGGGCCCGGTCCAGCTCCTCCTCAACCAGCTGAATGCGGCGGTTCAGGGAGGCCACATCTGCCTCAGCCTGTGGGTCAGAGGTCAGGGGTCAAAAAGGCCTTGTTAGCCTTGGATAAGGATCAGAGAGGCTCCAGAGGATGGCGAGATTCTTCTCAGAAAGAACTGAGGCTTCCTGGTTTCTAGACATTCTATGTGATTTTTCCCCAACCAATCATCTTCTGCCCAGACTGTGCTCCAGTAAAAAATGTGCATTCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCCGCACTCTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACTCTGTCTCTATTAAAAATAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGGTCGTGCCACTGCACTCCAGCCTGGGTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATTCCTTGCTTGACAAGCTCCGCTCCCCTGCTGCAGGGCCTCTCCTGCACTGTGCACAGTTAGTCTCCCAAAGGTCACCTGCACACAAGTCCTCCTGTTCCCTGTGGGAGCACTTCAAGTGCTGGGGCCAGGTCTGATGCAGCTCTGATTCCTACACAGCAAAGCCTGGCCCAGGTAAGGGGATGGGAGGAGAATCAGGCCAACCAGACATCACTGCTGCTAAGAATAGCCCGTCACAGAATCAAGCTCAGTGATACTGGGCATGGTGGTGCATGCCTGTCATCCCAGCTACTCCGAAGGCTAAGGCGGGAGTTCAGCTTGACCCCAGGAGCCCTGCCTGGGAAACATAGCAAGATCCCATCTCAAAAAAAAAAAAAAAAAAAAGTATCAAGTTCAGTGATGTCATCTGTCATCAGCTGTAAGGCAGACTCCCAGCAAGAAGCCCAAGAGGCAGGCCTATAAGGAATACCCATGGCTGTAGCAAGGGGCTCCCTGCCAAGGCCAGCAGAGAGCTGGGGGCAATGCAGGGGCAGTGTGAGG
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Task1_train_12811
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Here is a genetic alteration in TPM2 (tropomyosin 2) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Arthrogryposis, distal, type 1A
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CCTGCCTCTCCAGGGAGCTGTGTGTACAATGCTCTCGACAAGCAGGAGTGCTTGCTTAGAGGGGAGAGGGAGGGTGCTGGAGCCAGAAAGGGCAAACCTCCTAAAGCTGGAGGTAAAATTGGAGCTTGCCTGAGAAGGCTGGAAGCGAGAGAAGTGGGAAAGTGAAAGGGTTATCACAGAATAAAAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATGTTCAGTCCAACAGCTCTCTAGTTAATAAGCCAGTCTCTGCACTAGAACTCTACTGCGTTACACTCGGGGACGGAATTGTCTATAAGGGTGCCACTCAGAGTGTGGCATGAGGACCAGCAGCATTGGCAGTACCAGAGAACTAGCTAGAAATGTAAATCCTCCAGCCCAAAGTCAGCAATCTCTTTGGGGCAGAGTCAAGGAATCTGTTTTTAAAACTCTCCCAGTGATTCTCATGCATGCTGAAGTTTGAGAAGCACTGGAGTTGTTGCGCCGTGGGCAGCTACAATTACTTGAATTGTAGACATGGCCCACAGAGTTGGGGAGTTGGTAGGGTCCTAGGTGGCCCAACCCTAGTTTATTGGTGGCAAATAAAATGGGATGAGAAGGTACAGGACAGACTGATAATCACGGCAGGTGTGGACCTACTTATAAAGGCTTCTTTTACCTTCTAGGTCATCGATGGTTTTCTCCAACTTTGCCACAGACCTCTCGGCAAACTCTGCTCGGGTCTCAGCCTGGGGGTAAAGGCAGGATGGGAGAAATGGCAAAGAATTAGGCCCTCCCACAGACTACTGCCTAAGTCAAGCTTCTTGTCCATCCCAACCCTCAAGTGTCCTGCCACAGGCCGTCTCTGGCAAGGATTAGGGTGGCTTGAGGGGAGACTGGGAACTGGAAGAGGACTCTCACCTCCTTCAGCTTCTCCTCCAACAGTTTGATCTCCTCTTCATATTTATCTTCTTTGGTGGAATACTTTTGGGGACACACACACGCCATCAGTACAGCGCTACCACAGATCCTTCATTTCTCCATTGTACCCCGTAGGCTCCTGGTCATCTTGCCTCCGTTGAACACCCAGCCCCTCCCTGCCTTGGGCCCCTCACCTCCCTCCCCTGTGGGACCCCATCCTCACTGCCCCTCTGCTCCCCTCTACCTTGTCCGCCTGGGCCTCCAGGGATTTCAAGTTGTTGGTAACAATTTTCAGCTCCTCCTCTAGGTCCCCACATTTACTGCAGGGGGTGTGTGGCGGGGGGGGCAGGGTGTGAGGGCACAGCGAAGCCAGACAGTGGAGATGGCACAGCAGGGGACGGGTGGAGGAGAGAAGAGAAGAGCAAAGTTGTGAGAGTGACAGCAGGCAGGGCTCAGAAGCCCCAGGCCCTTCCTGATCCCCAGCAGCTGAGAAAGAGCAGCCTGCGGTGCTGAGACGGAGGGAAGGTGAGCTGAGAGAAGGCGCCATTGCCCAGAAAGGTTCAGAGGGGTCACTACCTCCTCCTCTGAGGCCATCAGGGACTTGAGGGCCTGGTCCATGGTTCGAAGTTCCTCCTCCAGCTGTCTGGCTCGGCTGGGGGCAGCGGGCAGGGGTCAGAGAACAGGGCCTGTCCCTACAGCCCCAAGCCTAGGATGCTACCTTCCCACTGTGTGGAAGGCCCCAGGGCCAATGGGCTCACTTGTCACCCCCGGGTATCTTTACCTCTCGGCCACCTCAGCCCTCTCCTCCGAGCGCTCCAGCTCTCCTTCCAGGATCACCAGCTTCCTGGCCACCTGTGGGGAGTGAGAAAGAGAGGGTAGATCAGTGGAGAAGGACTGGGCATGTTGCAGGCTGGGCAGCGAGCAGGCAGAGGGGCAAGGCTGTCACCTCTTCATATTTGCGGTCTGAATCCTCAGCGATGTGCTTGGCCTCCTTCAGCTGCATCTCCTGCAGTTCCATCTTCTCCTCATCCTTCATGGCCCGGTTTTCGATGACCTTCATTCCTCTGAAAGGCAGGGAGAGGGTGAGCGTAGGGTCAGGACCAGCAGAGACAGGCTCCCTTCTCCCTCCCGGACCATCCTCCCCGAGGCCCCTGACCACCTCTCGCTCTCATCAGCCGCCTTCTCGGCCTCCTCCAGCTTCTGCAGGGCTGTAGCCAGGCGCTCCTGGGCCCGGTCCAGCTCCTCCTCAACCAGCTGAATGCGGCGGTTCAGGGAGGCCACATCTGCCTCAGCCTGTGGGTCAGAGGTCAGGGGTCAAAAAGGCCTTGTTAGCCTTGGATAAGGATCAGAGAGGCTCCAGAGGATGGCGAGATTCTTCTCAGAAAGAACTGAGGCTTCCTGGTTTCTAGACATTCTATGTGATTTTTCCCCAACCAATCATCTTCTGCCCAGACTGTGCTCCAGTAAAAAATGTGCATTCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCCGCACTCTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACTCTGTCTCTATTAAAAATAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGGTCGTGCCACTGCACTCCAGCCTGGGTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATTCCTTGCTTGACAAGCTCCGCTCCCCTGCTGCAGGGCCTCTCCTGCACTGTGCACAGTTAGTCTCCCAAAGGTCACCTGCACACAAGTCCTCCTGTTCCCTGTGGGAGCACTTCAAGTGCTGGGGCCAGGTCTGATGCAGCTCTGATTCCTACACAGCAAAGCCTGGCCCAGGTAAGGGGATGGGAGGAGAATCAGGCCAACCAGACATCACTGCTGCTAAGAATAGCCCGTCACAGAATCAAGCTCAGTGATACTGGGCATGGTGGTGCATGCCTGTCATCCCAGCTACTCCGAAGGCTAAGGCGGGAGTTCAGCTTGACCCCAGGAGCCCTGCCTGGGAAACATAGCAAGATCCCATCTCAAAAAAAAAAAAAAAAAAAAGTATCAAGTTCAGTGATGTCATCTGTCATCAGCTGTAAGGCAGACTCCCAGCAAGAAGCCCAAGAGGCAGGCCTATAAGGAATACCCATGGCTGTAGCAAGGGGCTCCCTGCCAAGGCCAGCAGAGAGCTGGGGGCAATGCAGGGGCAGTGTGAGGGATGTCTACTCAGCCCCTGGGCTTGCAGTAGGAGGCAAAACCATGGAGGTTTTGGAAAAAATCCATAAAAACTGGTCAAACACTGAGAAAAAGGGCAGAGCAAGGCGAGCGCCAGTAAAGGAAAATGAGAGGAGCAGGGCAGCCACGTGTTAAGAGCATCGGCTCTGAGTCAGATTGTCTTTGAGCCACGGCTCAGCCACTCAACACCTGTGTAACTGTGGGCAACTTATTTAGCCTCTCTAAGCTTCAGTTTCCTCCTTCACAAGTTGGAGTTAACAATAACAGTTCCTCCTTCTTAAGGCTGTTCTGAGATAATCCACTGCTTTTAATACTCAGTTAATCAACAGGACCTTCGGTGAGACTCATAAAACTAAACAGGTTCTCTTACTCCATGCTAGATCCACTGAATTGGGATGTGTAGGGCGGGGGCTTGGGAATCTTCTCTTTTTTTTTTAAAGCCCCCGAGTGATTCTGATGATAAGCCAAGTTTGGGAAATTGTAAAATAACATGCAGAAAGCACTGAGTACATTGCCTGCACAGGGTCCACATTCCATAAATATTAGGTTATCCCCTTTCTCTGTCAAAAACAAGGACACAGAGACCCTGAGATTTCAGAGTGGAAAGGAGAGAGGACCTGTGTAGGGAAAGGAGGTGGGGGGAGGGGCTGGGGGCAGCACTTGGACACAGCATAGGAAGCAGGTCCTTGGTCGGACTGTAGGGCAGGAGAAACAGCACCATATATAGAGAGTAGATGGTAGCTTGT
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CCTGCCTCTCCAGGGAGCTGTGTGTACAATGCTCTCGACAAGCAGGAGTGCTTGCTTAGAGGGGAGAGGGAGGGTGCTGGAGCCAGAAAGGGCAAACCTCCTAAAGCTGGAGGTAAAATTGGAGCTTGCCTGAGAAGGCTGGAAGCGAGAGAAGTGGGAAAGTGAAAGGGTTATCACAGAATAAAAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATGTTCAGTCCAACAGCTCTCTAGTTAATAAGCCAGTCTCTGCACTAGAACTCTACTGCGTTACACTCGGGGACGGAATTGTCTATAAGGGTGCCACTCAGAGTGTGGCATGAGGACCAGCAGCATTGGCAGTACCAGAGAACTAGCTAGAAATGTAAATCCTCCAGCCCAAAGTCAGCAATCTCTTTGGGGCAGAGTCAAGGAATCTGTTTTTAAAACTCTCCCAGTGATTCTCATGCATGCTGAAGTTTGAGAAGCACTGGAGTTGTTGCGCCGTGGGCAGCTACAATTACTTGAATTGTAGACATGGCCCACAGAGTTGGGGAGTTGGTAGGGTCCTAGGTGGCCCAACCCTAGTTTATTGGTGGCAAATAAAATGGGATGAGAAGGTACAGGACAGACTGATAATCACGGCAGGTGTGGACCTACTTATAAAGGCTTCTTTTACCTTCTAGGTCATCGATGGTTTTCTCCAACTTTGCCACAGACCTCTCGGCAAACTCTGCTCGGGTCTCAGCCTGGGGGTAAAGGCAGGATGGGAGAAATGGCAAAGAATTAGGCCCTCCCACAGACTACTGCCTAAGTCAAGCTTCTTGTCCATCCCAACCCTCAAGTGTCCTGCCACAGGCCGTCTCTGGCAAGGATTAGGGTGGCTTGAGGGGAGACTGGGAACTGGAAGAGGACTCTCACCTCCTTCAGCTTCTCCTCCAACAGTTTGATCTCCTCTTCATATTTATCTTCTTTGGTGGAATACTTTTGGGGACACACACACGCCATCAGTACAGCGCTACCACAGATCCTTCATTTCTCCATTGTACCCCGTAGGCTCCTGGTCATCTTGCCTCCGTTGAACACCCAGCCCCTCCCTGCCTTGGGCCCCTCACCTCCCTCCCCTGTGGGACCCCATCCTCACTGCCCCTCTGCTCCCCTCTACCTTGTCCGCCTGGGCCTCCAGGGATTTCAAGTTGTTGGTAACAATTTTCAGCTCCTCCTCTAGGTCCCCACATTTACTGCAGGGGGTGTGTGGCGGGGGGGGCAGGGTGTGAGGGCACAGCGAAGCCAGACAGTGGAGATGGCACAGCAGGGGACGGGTGGAGGAGAGAAGAGAAGAGCAAAGTTGTGAGAGTGACAGCAGGCAGGGCTCAGAAGCCCCAGGCCCTTCCTGATCCCCAGCAGCTGAGAAAGAGCAGCCTGCGGTGCTGAGACGGAGGGAAGGTGAGCTGAGAGAAGGCGCCATTGCCCAGAAAGGTTCAGAGGGGTCACTACCTCCTCCTCTGAGGCCATCAGGGACTTGAGGGCCTGGTCCATGGTTCGAAGTTCCTCCTCCAGCTGTCTGGCTCGGCTGGGGGCAGCGGGCAGGGGTCAGAGAACAGGGCCTGTCCCTACAGCCCCAAGCCTAGGATGCTACCTTCCCACTGTGTGGAAGGCCCCAGGGCCAATGGGCTCACTTGTCACCCCCGGGTATCTTTACCTCTCGGCCACCTCAGCCCTCTCCTCCGAGCGCTCCAGCTCTCCTTCCAGGATCACCAGCTTCCTGGCCACCTGTGGGGAGTGAGAAAGAGAGGGTAGATCAGTGGAGAAGGACTGGGCATGTTGCAGGCTGGGCAGCGAGCAGGCAGAGGGGCAAGGCTGTCACCTCTTCATATTTGCGGTCTGAATCCTCAGCGATGTGCTTGGCCTCCTTCAGCTGCATCTCCTGCAGTTCCATCTTCTCCTCATCCTTCATGGCCCAGTTTTCGATGACCTTCATTCCTCTGAAAGGCAGGGAGAGGGTGAGCGTAGGGTCAGGACCAGCAGAGACAGGCTCCCTTCTCCCTCCCGGACCATCCTCCCCGAGGCCCCTGACCACCTCTCGCTCTCATCAGCCGCCTTCTCGGCCTCCTCCAGCTTCTGCAGGGCTGTAGCCAGGCGCTCCTGGGCCCGGTCCAGCTCCTCCTCAACCAGCTGAATGCGGCGGTTCAGGGAGGCCACATCTGCCTCAGCCTGTGGGTCAGAGGTCAGGGGTCAAAAAGGCCTTGTTAGCCTTGGATAAGGATCAGAGAGGCTCCAGAGGATGGCGAGATTCTTCTCAGAAAGAACTGAGGCTTCCTGGTTTCTAGACATTCTATGTGATTTTTCCCCAACCAATCATCTTCTGCCCAGACTGTGCTCCAGTAAAAAATGTGCATTCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCCGCACTCTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACTCTGTCTCTATTAAAAATAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGGTCGTGCCACTGCACTCCAGCCTGGGTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATTCCTTGCTTGACAAGCTCCGCTCCCCTGCTGCAGGGCCTCTCCTGCACTGTGCACAGTTAGTCTCCCAAAGGTCACCTGCACACAAGTCCTCCTGTTCCCTGTGGGAGCACTTCAAGTGCTGGGGCCAGGTCTGATGCAGCTCTGATTCCTACACAGCAAAGCCTGGCCCAGGTAAGGGGATGGGAGGAGAATCAGGCCAACCAGACATCACTGCTGCTAAGAATAGCCCGTCACAGAATCAAGCTCAGTGATACTGGGCATGGTGGTGCATGCCTGTCATCCCAGCTACTCCGAAGGCTAAGGCGGGAGTTCAGCTTGACCCCAGGAGCCCTGCCTGGGAAACATAGCAAGATCCCATCTCAAAAAAAAAAAAAAAAAAAAGTATCAAGTTCAGTGATGTCATCTGTCATCAGCTGTAAGGCAGACTCCCAGCAAGAAGCCCAAGAGGCAGGCCTATAAGGAATACCCATGGCTGTAGCAAGGGGCTCCCTGCCAAGGCCAGCAGAGAGCTGGGGGCAATGCAGGGGCAGTGTGAGGGATGTCTACTCAGCCCCTGGGCTTGCAGTAGGAGGCAAAACCATGGAGGTTTTGGAAAAAATCCATAAAAACTGGTCAAACACTGAGAAAAAGGGCAGAGCAAGGCGAGCGCCAGTAAAGGAAAATGAGAGGAGCAGGGCAGCCACGTGTTAAGAGCATCGGCTCTGAGTCAGATTGTCTTTGAGCCACGGCTCAGCCACTCAACACCTGTGTAACTGTGGGCAACTTATTTAGCCTCTCTAAGCTTCAGTTTCCTCCTTCACAAGTTGGAGTTAACAATAACAGTTCCTCCTTCTTAAGGCTGTTCTGAGATAATCCACTGCTTTTAATACTCAGTTAATCAACAGGACCTTCGGTGAGACTCATAAAACTAAACAGGTTCTCTTACTCCATGCTAGATCCACTGAATTGGGATGTGTAGGGCGGGGGCTTGGGAATCTTCTCTTTTTTTTTTAAAGCCCCCGAGTGATTCTGATGATAAGCCAAGTTTGGGAAATTGTAAAATAACATGCAGAAAGCACTGAGTACATTGCCTGCACAGGGTCCACATTCCATAAATATTAGGTTATCCCCTTTCTCTGTCAAAAACAAGGACACAGAGACCCTGAGATTTCAGAGTGGAAAGGAGAGAGGACCTGTGTAGGGAAAGGAGGTGGGGGGAGGGGCTGGGGGCAGCACTTGGACACAGCATAGGAAGCAGGTCCTTGGTCGGACTGTAGGGCAGGAGAAACAGCACCATATATAGAGAGTAGATGGTAGCTTGT
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Task1_train_12812
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A variant on Chromosome 9 in gene TPM2 (tropomyosin 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Arthrogryposis
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CCTGCCTCTCCAGGGAGCTGTGTGTACAATGCTCTCGACAAGCAGGAGTGCTTGCTTAGAGGGGAGAGGGAGGGTGCTGGAGCCAGAAAGGGCAAACCTCCTAAAGCTGGAGGTAAAATTGGAGCTTGCCTGAGAAGGCTGGAAGCGAGAGAAGTGGGAAAGTGAAAGGGTTATCACAGAATAAAAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATGTTCAGTCCAACAGCTCTCTAGTTAATAAGCCAGTCTCTGCACTAGAACTCTACTGCGTTACACTCGGGGACGGAATTGTCTATAAGGGTGCCACTCAGAGTGTGGCATGAGGACCAGCAGCATTGGCAGTACCAGAGAACTAGCTAGAAATGTAAATCCTCCAGCCCAAAGTCAGCAATCTCTTTGGGGCAGAGTCAAGGAATCTGTTTTTAAAACTCTCCCAGTGATTCTCATGCATGCTGAAGTTTGAGAAGCACTGGAGTTGTTGCGCCGTGGGCAGCTACAATTACTTGAATTGTAGACATGGCCCACAGAGTTGGGGAGTTGGTAGGGTCCTAGGTGGCCCAACCCTAGTTTATTGGTGGCAAATAAAATGGGATGAGAAGGTACAGGACAGACTGATAATCACGGCAGGTGTGGACCTACTTATAAAGGCTTCTTTTACCTTCTAGGTCATCGATGGTTTTCTCCAACTTTGCCACAGACCTCTCGGCAAACTCTGCTCGGGTCTCAGCCTGGGGGTAAAGGCAGGATGGGAGAAATGGCAAAGAATTAGGCCCTCCCACAGACTACTGCCTAAGTCAAGCTTCTTGTCCATCCCAACCCTCAAGTGTCCTGCCACAGGCCGTCTCTGGCAAGGATTAGGGTGGCTTGAGGGGAGACTGGGAACTGGAAGAGGACTCTCACCTCCTTCAGCTTCTCCTCCAACAGTTTGATCTCCTCTTCATATTTATCTTCTTTGGTGGAATACTTTTGGGGACACACACACGCCATCAGTACAGCGCTACCACAGATCCTTCATTTCTCCATTGTACCCCGTAGGCTCCTGGTCATCTTGCCTCCGTTGAACACCCAGCCCCTCCCTGCCTTGGGCCCCTCACCTCCCTCCCCTGTGGGACCCCATCCTCACTGCCCCTCTGCTCCCCTCTACCTTGTCCGCCTGGGCCTCCAGGGATTTCAAGTTGTTGGTAACAATTTTCAGCTCCTCCTCTAGGTCCCCACATTTACTGCAGGGGGTGTGTGGCGGGGGGGGCAGGGTGTGAGGGCACAGCGAAGCCAGACAGTGGAGATGGCACAGCAGGGGACGGGTGGAGGAGAGAAGAGAAGAGCAAAGTTGTGAGAGTGACAGCAGGCAGGGCTCAGAAGCCCCAGGCCCTTCCTGATCCCCAGCAGCTGAGAAAGAGCAGCCTGCGGTGCTGAGACGGAGGGAAGGTGAGCTGAGAGAAGGCGCCATTGCCCAGAAAGGTTCAGAGGGGTCACTACCTCCTCCTCTGAGGCCATCAGGGACTTGAGGGCCTGGTCCATGGTTCGAAGTTCCTCCTCCAGCTGTCTGGCTCGGCTGGGGGCAGCGGGCAGGGGTCAGAGAACAGGGCCTGTCCCTACAGCCCCAAGCCTAGGATGCTACCTTCCCACTGTGTGGAAGGCCCCAGGGCCAATGGGCTCACTTGTCACCCCCGGGTATCTTTACCTCTCGGCCACCTCAGCCCTCTCCTCCGAGCGCTCCAGCTCTCCTTCCAGGATCACCAGCTTCCTGGCCACCTGTGGGGAGTGAGAAAGAGAGGGTAGATCAGTGGAGAAGGACTGGGCATGTTGCAGGCTGGGCAGCGAGCAGGCAGAGGGGCAAGGCTGTCACCTCTTCATATTTGCGGTCTGAATCCTCAGCGATGTGCTTGGCCTCCTTCAGCTGCATCTCCTGCAGTTCCATCTTCTCCTCATCCTTCATGGCCCGGTTTTCGATGACCTTCATTCCTCTGAAAGGCAGGGAGAGGGTGAGCGTAGGGTCAGGACCAGCAGAGACAGGCTCCCTTCTCCCTCCCGGACCATCCTCCCCGAGGCCCCTGACCACCTCTCGCTCTCATCAGCCGCCTTCTCGGCCTCCTCCAGCTTCTGCAGGGCTGTAGCCAGGCGCTCCTGGGCCCGGTCCAGCTCCTCCTCAACCAGCTGAATGCGGCGGTTCAGGGAGGCCACATCTGCCTCAGCCTGTGGGTCAGAGGTCAGGGGTCAAAAAGGCCTTGTTAGCCTTGGATAAGGATCAGAGAGGCTCCAGAGGATGGCGAGATTCTTCTCAGAAAGAACTGAGGCTTCCTGGTTTCTAGACATTCTATGTGATTTTTCCCCAACCAATCATCTTCTGCCCAGACTGTGCTCCAGTAAAAAATGTGCATTCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCCGCACTCTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACTCTGTCTCTATTAAAAATAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGGTCGTGCCACTGCACTCCAGCCTGGGTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATTCCTTGCTTGACAAGCTCCGCTCCCCTGCTGCAGGGCCTCTCCTGCACTGTGCACAGTTAGTCTCCCAAAGGTCACCTGCACACAAGTCCTCCTGTTCCCTGTGGGAGCACTTCAAGTGCTGGGGCCAGGTCTGATGCAGCTCTGATTCCTACACAGCAAAGCCTGGCCCAGGTAAGGGGATGGGAGGAGAATCAGGCCAACCAGACATCACTGCTGCTAAGAATAGCCCGTCACAGAATCAAGCTCAGTGATACTGGGCATGGTGGTGCATGCCTGTCATCCCAGCTACTCCGAAGGCTAAGGCGGGAGTTCAGCTTGACCCCAGGAGCCCTGCCTGGGAAACATAGCAAGATCCCATCTCAAAAAAAAAAAAAAAAAAAAGTATCAAGTTCAGTGATGTCATCTGTCATCAGCTGTAAGGCAGACTCCCAGCAAGAAGCCCAAGAGGCAGGCCTATAAGGAATACCCATGGCTGTAGCAAGGGGCTCCCTGCCAAGGCCAGCAGAGAGCTGGGGGCAATGCAGGGGCAGTGTGAGGGATGTCTACTCAGCCCCTGGGCTTGCAGTAGGAGGCAAAACCATGGAGGTTTTGGAAAAAATCCATAAAAACTGGTCAAACACTGAGAAAAAGGGCAGAGCAAGGCGAGCGCCAGTAAAGGAAAATGAGAGGAGCAGGGCAGCCACGTGTTAAGAGCATCGGCTCTGAGTCAGATTGTCTTTGAGCCACGGCTCAGCCACTCAACACCTGTGTAACTGTGGGCAACTTATTTAGCCTCTCTAAGCTTCAGTTTCCTCCTTCACAAGTTGGAGTTAACAATAACAGTTCCTCCTTCTTAAGGCTGTTCTGAGATAATCCACTGCTTTTAATACTCAGTTAATCAACAGGACCTTCGGTGAGACTCATAAAACTAAACAGGTTCTCTTACTCCATGCTAGATCCACTGAATTGGGATGTGTAGGGCGGGGGCTTGGGAATCTTCTCTTTTTTTTTTAAAGCCCCCGAGTGATTCTGATGATAAGCCAAGTTTGGGAAATTGTAAAATAACATGCAGAAAGCACTGAGTACATTGCCTGCACAGGGTCCACATTCCATAAATATTAGGTTATCCCCTTTCTCTGTCAAAAACAAGGACACAGAGACCCTGAGATTTCAGAGTGGAAAGGAGAGAGGACCTGTGTAGGGAAAGGAGGTGGGGGGAGGGGCTGGGGGCAGCACTTGGACACAGCATAGGAAGCAGGTCCTTGGTCGGACTGTAGGGCAGGAGAAACAGCACCATATATAGAGAGTAGATGGTAGCTTGT
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CCTGCCTCTCCAGGGAGCTGTGTGTACAATGCTCTCGACAAGCAGGAGTGCTTGCTTAGAGGGGAGAGGGAGGGTGCTGGAGCCAGAAAGGGCAAACCTCCTAAAGCTGGAGGTAAAATTGGAGCTTGCCTGAGAAGGCTGGAAGCGAGAGAAGTGGGAAAGTGAAAGGGTTATCACAGAATAAAAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATGTTCAGTCCAACAGCTCTCTAGTTAATAAGCCAGTCTCTGCACTAGAACTCTACTGCGTTACACTCGGGGACGGAATTGTCTATAAGGGTGCCACTCAGAGTGTGGCATGAGGACCAGCAGCATTGGCAGTACCAGAGAACTAGCTAGAAATGTAAATCCTCCAGCCCAAAGTCAGCAATCTCTTTGGGGCAGAGTCAAGGAATCTGTTTTTAAAACTCTCCCAGTGATTCTCATGCATGCTGAAGTTTGAGAAGCACTGGAGTTGTTGCGCCGTGGGCAGCTACAATTACTTGAATTGTAGACATGGCCCACAGAGTTGGGGAGTTGGTAGGGTCCTAGGTGGCCCAACCCTAGTTTATTGGTGGCAAATAAAATGGGATGAGAAGGTACAGGACAGACTGATAATCACGGCAGGTGTGGACCTACTTATAAAGGCTTCTTTTACCTTCTAGGTCATCGATGGTTTTCTCCAACTTTGCCACAGACCTCTCGGCAAACTCTGCTCGGGTCTCAGCCTGGGGGTAAAGGCAGGATGGGAGAAATGGCAAAGAATTAGGCCCTCCCACAGACTACTGCCTAAGTCAAGCTTCTTGTCCATCCCAACCCTCAAGTGTCCTGCCACAGGCCGTCTCTGGCAAGGATTAGGGTGGCTTGAGGGGAGACTGGGAACTGGAAGAGGACTCTCACCTCCTTCAGCTTCTCCTCCAACAGTTTGATCTCCTCTTCATATTTATCTTCTTTGGTGGAATACTTTTGGGGACACACACACGCCATCAGTACAGCGCTACCACAGATCCTTCATTTCTCCATTGTACCCCGTAGGCTCCTGGTCATCTTGCCTCCGTTGAACACCCAGCCCCTCCCTGCCTTGGGCCCCTCACCTCCCTCCCCTGTGGGACCCCATCCTCACTGCCCCTCTGCTCCCCTCTACCTTGTCCGCCTGGGCCTCCAGGGATTTCAAGTTGTTGGTAACAATTTTCAGCTCCTCCTCTAGGTCCCCACATTTACTGCAGGGGGTGTGTGGCGGGGGGGGCAGGGTGTGAGGGCACAGCGAAGCCAGACAGTGGAGATGGCACAGCAGGGGACGGGTGGAGGAGAGAAGAGAAGAGCAAAGTTGTGAGAGTGACAGCAGGCAGGGCTCAGAAGCCCCAGGCCCTTCCTGATCCCCAGCAGCTGAGAAAGAGCAGCCTGCGGTGCTGAGACGGAGGGAAGGTGAGCTGAGAGAAGGCGCCATTGCCCAGAAAGGTTCAGAGGGGTCACTACCTCCTCCTCTGAGGCCATCAGGGACTTGAGGGCCTGGTCCATGGTTCGAAGTTCCTCCTCCAGCTGTCTGGCTCGGCTGGGGGCAGCGGGCAGGGGTCAGAGAACAGGGCCTGTCCCTACAGCCCCAAGCCTAGGATGCTACCTTCCCACTGTGTGGAAGGCCCCAGGGCCAATGGGCTCACTTGTCACCCCCGGGTATCTTTACCTCTCGGCCACCTCAGCCCTCTCCTCCGAGCGCTCCAGCTCTCCTTCCAGGATCACCAGCTTCCTGGCCACCTGTGGGGAGTGAGAAAGAGAGGGTAGATCAGTGGAGAAGGACTGGGCATGTTGCAGGCTGGGCAGCGAGCAGGCAGAGGGGCAAGGCTGTCACCTCTTCATATTTGCGGTCTGAATCCTCAGCGATGTGCTTGGCCTCCTTCAGCTGCATCTCCTGCAGTTCCATCTTCTCCTCATCCTTCATGGCCCAGTTTTCGATGACCTTCATTCCTCTGAAAGGCAGGGAGAGGGTGAGCGTAGGGTCAGGACCAGCAGAGACAGGCTCCCTTCTCCCTCCCGGACCATCCTCCCCGAGGCCCCTGACCACCTCTCGCTCTCATCAGCCGCCTTCTCGGCCTCCTCCAGCTTCTGCAGGGCTGTAGCCAGGCGCTCCTGGGCCCGGTCCAGCTCCTCCTCAACCAGCTGAATGCGGCGGTTCAGGGAGGCCACATCTGCCTCAGCCTGTGGGTCAGAGGTCAGGGGTCAAAAAGGCCTTGTTAGCCTTGGATAAGGATCAGAGAGGCTCCAGAGGATGGCGAGATTCTTCTCAGAAAGAACTGAGGCTTCCTGGTTTCTAGACATTCTATGTGATTTTTCCCCAACCAATCATCTTCTGCCCAGACTGTGCTCCAGTAAAAAATGTGCATTCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCCGCACTCTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACTCTGTCTCTATTAAAAATAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGGTCGTGCCACTGCACTCCAGCCTGGGTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATTCCTTGCTTGACAAGCTCCGCTCCCCTGCTGCAGGGCCTCTCCTGCACTGTGCACAGTTAGTCTCCCAAAGGTCACCTGCACACAAGTCCTCCTGTTCCCTGTGGGAGCACTTCAAGTGCTGGGGCCAGGTCTGATGCAGCTCTGATTCCTACACAGCAAAGCCTGGCCCAGGTAAGGGGATGGGAGGAGAATCAGGCCAACCAGACATCACTGCTGCTAAGAATAGCCCGTCACAGAATCAAGCTCAGTGATACTGGGCATGGTGGTGCATGCCTGTCATCCCAGCTACTCCGAAGGCTAAGGCGGGAGTTCAGCTTGACCCCAGGAGCCCTGCCTGGGAAACATAGCAAGATCCCATCTCAAAAAAAAAAAAAAAAAAAAGTATCAAGTTCAGTGATGTCATCTGTCATCAGCTGTAAGGCAGACTCCCAGCAAGAAGCCCAAGAGGCAGGCCTATAAGGAATACCCATGGCTGTAGCAAGGGGCTCCCTGCCAAGGCCAGCAGAGAGCTGGGGGCAATGCAGGGGCAGTGTGAGGGATGTCTACTCAGCCCCTGGGCTTGCAGTAGGAGGCAAAACCATGGAGGTTTTGGAAAAAATCCATAAAAACTGGTCAAACACTGAGAAAAAGGGCAGAGCAAGGCGAGCGCCAGTAAAGGAAAATGAGAGGAGCAGGGCAGCCACGTGTTAAGAGCATCGGCTCTGAGTCAGATTGTCTTTGAGCCACGGCTCAGCCACTCAACACCTGTGTAACTGTGGGCAACTTATTTAGCCTCTCTAAGCTTCAGTTTCCTCCTTCACAAGTTGGAGTTAACAATAACAGTTCCTCCTTCTTAAGGCTGTTCTGAGATAATCCACTGCTTTTAATACTCAGTTAATCAACAGGACCTTCGGTGAGACTCATAAAACTAAACAGGTTCTCTTACTCCATGCTAGATCCACTGAATTGGGATGTGTAGGGCGGGGGCTTGGGAATCTTCTCTTTTTTTTTTAAAGCCCCCGAGTGATTCTGATGATAAGCCAAGTTTGGGAAATTGTAAAATAACATGCAGAAAGCACTGAGTACATTGCCTGCACAGGGTCCACATTCCATAAATATTAGGTTATCCCCTTTCTCTGTCAAAAACAAGGACACAGAGACCCTGAGATTTCAGAGTGGAAAGGAGAGAGGACCTGTGTAGGGAAAGGAGGTGGGGGGAGGGGCTGGGGGCAGCACTTGGACACAGCATAGGAAGCAGGTCCTTGGTCGGACTGTAGGGCAGGAGAAACAGCACCATATATAGAGAGTAGATGGTAGCTTGT
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Task1_train_12813
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Gene TPM2 (tropomyosin 2) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Arthrogryposis, distal, type 1A
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AGCGAGAGAAGTGGGAAAGTGAAAGGGTTATCACAGAATAAAAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATGTTCAGTCCAACAGCTCTCTAGTTAATAAGCCAGTCTCTGCACTAGAACTCTACTGCGTTACACTCGGGGACGGAATTGTCTATAAGGGTGCCACTCAGAGTGTGGCATGAGGACCAGCAGCATTGGCAGTACCAGAGAACTAGCTAGAAATGTAAATCCTCCAGCCCAAAGTCAGCAATCTCTTTGGGGCAGAGTCAAGGAATCTGTTTTTAAAACTCTCCCAGTGATTCTCATGCATGCTGAAGTTTGAGAAGCACTGGAGTTGTTGCGCCGTGGGCAGCTACAATTACTTGAATTGTAGACATGGCCCACAGAGTTGGGGAGTTGGTAGGGTCCTAGGTGGCCCAACCCTAGTTTATTGGTGGCAAATAAAATGGGATGAGAAGGTACAGGACAGACTGATAATCACGGCAGGTGTGGACCTACTTATAAAGGCTTCTTTTACCTTCTAGGTCATCGATGGTTTTCTCCAACTTTGCCACAGACCTCTCGGCAAACTCTGCTCGGGTCTCAGCCTGGGGGTAAAGGCAGGATGGGAGAAATGGCAAAGAATTAGGCCCTCCCACAGACTACTGCCTAAGTCAAGCTTCTTGTCCATCCCAACCCTCAAGTGTCCTGCCACAGGCCGTCTCTGGCAAGGATTAGGGTGGCTTGAGGGGAGACTGGGAACTGGAAGAGGACTCTCACCTCCTTCAGCTTCTCCTCCAACAGTTTGATCTCCTCTTCATATTTATCTTCTTTGGTGGAATACTTTTGGGGACACACACACGCCATCAGTACAGCGCTACCACAGATCCTTCATTTCTCCATTGTACCCCGTAGGCTCCTGGTCATCTTGCCTCCGTTGAACACCCAGCCCCTCCCTGCCTTGGGCCCCTCACCTCCCTCCCCTGTGGGACCCCATCCTCACTGCCCCTCTGCTCCCCTCTACCTTGTCCGCCTGGGCCTCCAGGGATTTCAAGTTGTTGGTAACAATTTTCAGCTCCTCCTCTAGGTCCCCACATTTACTGCAGGGGGTGTGTGGCGGGGGGGGCAGGGTGTGAGGGCACAGCGAAGCCAGACAGTGGAGATGGCACAGCAGGGGACGGGTGGAGGAGAGAAGAGAAGAGCAAAGTTGTGAGAGTGACAGCAGGCAGGGCTCAGAAGCCCCAGGCCCTTCCTGATCCCCAGCAGCTGAGAAAGAGCAGCCTGCGGTGCTGAGACGGAGGGAAGGTGAGCTGAGAGAAGGCGCCATTGCCCAGAAAGGTTCAGAGGGGTCACTACCTCCTCCTCTGAGGCCATCAGGGACTTGAGGGCCTGGTCCATGGTTCGAAGTTCCTCCTCCAGCTGTCTGGCTCGGCTGGGGGCAGCGGGCAGGGGTCAGAGAACAGGGCCTGTCCCTACAGCCCCAAGCCTAGGATGCTACCTTCCCACTGTGTGGAAGGCCCCAGGGCCAATGGGCTCACTTGTCACCCCCGGGTATCTTTACCTCTCGGCCACCTCAGCCCTCTCCTCCGAGCGCTCCAGCTCTCCTTCCAGGATCACCAGCTTCCTGGCCACCTGTGGGGAGTGAGAAAGAGAGGGTAGATCAGTGGAGAAGGACTGGGCATGTTGCAGGCTGGGCAGCGAGCAGGCAGAGGGGCAAGGCTGTCACCTCTTCATATTTGCGGTCTGAATCCTCAGCGATGTGCTTGGCCTCCTTCAGCTGCATCTCCTGCAGTTCCATCTTCTCCTCATCCTTCATGGCCCGGTTTTCGATGACCTTCATTCCTCTGAAAGGCAGGGAGAGGGTGAGCGTAGGGTCAGGACCAGCAGAGACAGGCTCCCTTCTCCCTCCCGGACCATCCTCCCCGAGGCCCCTGACCACCTCTCGCTCTCATCAGCCGCCTTCTCGGCCTCCTCCAGCTTCTGCAGGGCTGTAGCCAGGCGCTCCTGGGCCCGGTCCAGCTCCTCCTCAACCAGCTGAATGCGGCGGTTCAGGGAGGCCACATCTGCCTCAGCCTGTGGGTCAGAGGTCAGGGGTCAAAAAGGCCTTGTTAGCCTTGGATAAGGATCAGAGAGGCTCCAGAGGATGGCGAGATTCTTCTCAGAAAGAACTGAGGCTTCCTGGTTTCTAGACATTCTATGTGATTTTTCCCCAACCAATCATCTTCTGCCCAGACTGTGCTCCAGTAAAAAATGTGCATTCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCCGCACTCTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACTCTGTCTCTATTAAAAATAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGGTCGTGCCACTGCACTCCAGCCTGGGTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATTCCTTGCTTGACAAGCTCCGCTCCCCTGCTGCAGGGCCTCTCCTGCACTGTGCACAGTTAGTCTCCCAAAGGTCACCTGCACACAAGTCCTCCTGTTCCCTGTGGGAGCACTTCAAGTGCTGGGGCCAGGTCTGATGCAGCTCTGATTCCTACACAGCAAAGCCTGGCCCAGGTAAGGGGATGGGAGGAGAATCAGGCCAACCAGACATCACTGCTGCTAAGAATAGCCCGTCACAGAATCAAGCTCAGTGATACTGGGCATGGTGGTGCATGCCTGTCATCCCAGCTACTCCGAAGGCTAAGGCGGGAGTTCAGCTTGACCCCAGGAGCCCTGCCTGGGAAACATAGCAAGATCCCATCTCAAAAAAAAAAAAAAAAAAAAGTATCAAGTTCAGTGATGTCATCTGTCATCAGCTGTAAGGCAGACTCCCAGCAAGAAGCCCAAGAGGCAGGCCTATAAGGAATACCCATGGCTGTAGCAAGGGGCTCCCTGCCAAGGCCAGCAGAGAGCTGGGGGCAATGCAGGGGCAGTGTGAGGGATGTCTACTCAGCCCCTGGGCTTGCAGTAGGAGGCAAAACCATGGAGGTTTTGGAAAAAATCCATAAAAACTGGTCAAACACTGAGAAAAAGGGCAGAGCAAGGCGAGCGCCAGTAAAGGAAAATGAGAGGAGCAGGGCAGCCACGTGTTAAGAGCATCGGCTCTGAGTCAGATTGTCTTTGAGCCACGGCTCAGCCACTCAACACCTGTGTAACTGTGGGCAACTTATTTAGCCTCTCTAAGCTTCAGTTTCCTCCTTCACAAGTTGGAGTTAACAATAACAGTTCCTCCTTCTTAAGGCTGTTCTGAGATAATCCACTGCTTTTAATACTCAGTTAATCAACAGGACCTTCGGTGAGACTCATAAAACTAAACAGGTTCTCTTACTCCATGCTAGATCCACTGAATTGGGATGTGTAGGGCGGGGGCTTGGGAATCTTCTCTTTTTTTTTTAAAGCCCCCGAGTGATTCTGATGATAAGCCAAGTTTGGGAAATTGTAAAATAACATGCAGAAAGCACTGAGTACATTGCCTGCACAGGGTCCACATTCCATAAATATTAGGTTATCCCCTTTCTCTGTCAAAAACAAGGACACAGAGACCCTGAGATTTCAGAGTGGAAAGGAGAGAGGACCTGTGTAGGGAAAGGAGGTGGGGGGAGGGGCTGGGGGCAGCACTTGGACACAGCATAGGAAGCAGGTCCTTGGTCGGACTGTAGGGCAGGAGAAACAGCACCATATATAGAGAGTAGATGGTAGCTTGTCTTCCAGGTGCTGAAGGCACCTGGAGCTTGGCCACCTAGAGTGACAAGAGCCCATCATGGGCACAGGGCCGGATGACAGTGTGGAAGCATTCTGGGGACAGCATTGGGGGTTGGGAAGAATCACTGTGGGGGACATTGGAGTA
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AGCGAGAGAAGTGGGAAAGTGAAAGGGTTATCACAGAATAAAAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATGTTCAGTCCAACAGCTCTCTAGTTAATAAGCCAGTCTCTGCACTAGAACTCTACTGCGTTACACTCGGGGACGGAATTGTCTATAAGGGTGCCACTCAGAGTGTGGCATGAGGACCAGCAGCATTGGCAGTACCAGAGAACTAGCTAGAAATGTAAATCCTCCAGCCCAAAGTCAGCAATCTCTTTGGGGCAGAGTCAAGGAATCTGTTTTTAAAACTCTCCCAGTGATTCTCATGCATGCTGAAGTTTGAGAAGCACTGGAGTTGTTGCGCCGTGGGCAGCTACAATTACTTGAATTGTAGACATGGCCCACAGAGTTGGGGAGTTGGTAGGGTCCTAGGTGGCCCAACCCTAGTTTATTGGTGGCAAATAAAATGGGATGAGAAGGTACAGGACAGACTGATAATCACGGCAGGTGTGGACCTACTTATAAAGGCTTCTTTTACCTTCTAGGTCATCGATGGTTTTCTCCAACTTTGCCACAGACCTCTCGGCAAACTCTGCTCGGGTCTCAGCCTGGGGGTAAAGGCAGGATGGGAGAAATGGCAAAGAATTAGGCCCTCCCACAGACTACTGCCTAAGTCAAGCTTCTTGTCCATCCCAACCCTCAAGTGTCCTGCCACAGGCCGTCTCTGGCAAGGATTAGGGTGGCTTGAGGGGAGACTGGGAACTGGAAGAGGACTCTCACCTCCTTCAGCTTCTCCTCCAACAGTTTGATCTCCTCTTCATATTTATCTTCTTTGGTGGAATACTTTTGGGGACACACACACGCCATCAGTACAGCGCTACCACAGATCCTTCATTTCTCCATTGTACCCCGTAGGCTCCTGGTCATCTTGCCTCCGTTGAACACCCAGCCCCTCCCTGCCTTGGGCCCCTCACCTCCCTCCCCTGTGGGACCCCATCCTCACTGCCCCTCTGCTCCCCTCTACCTTGTCCGCCTGGGCCTCCAGGGATTTCAAGTTGTTGGTAACAATTTTCAGCTCCTCCTCTAGGTCCCCACATTTACTGCAGGGGGTGTGTGGCGGGGGGGGCAGGGTGTGAGGGCACAGCGAAGCCAGACAGTGGAGATGGCACAGCAGGGGACGGGTGGAGGAGAGAAGAGAAGAGCAAAGTTGTGAGAGTGACAGCAGGCAGGGCTCAGAAGCCCCAGGCCCTTCCTGATCCCCAGCAGCTGAGAAAGAGCAGCCTGCGGTGCTGAGACGGAGGGAAGGTGAGCTGAGAGAAGGCGCCATTGCCCAGAAAGGTTCAGAGGGGTCACTACCTCCTCCTCTGAGGCCATCAGGGACTTGAGGGCCTGGTCCATGGTTCGAAGTTCCTCCTCCAGCTGTCTGGCTCGGCTGGGGGCAGCGGGCAGGGGTCAGAGAACAGGGCCTGTCCCTACAGCCCCAAGCCTAGGATGCTACCTTCCCACTGTGTGGAAGGCCCCAGGGCCAATGGGCTCACTTGTCACCCCCGGGTATCTTTACCTCTCGGCCACCTCAGCCCTCTCCTCCGAGCGCTCCAGCTCTCCTTCCAGGATCACCAGCTTCCTGGCCACCTGTGGGGAGTGAGAAAGAGAGGGTAGATCAGTGGAGAAGGACTGGGCATGTTGCAGGCTGGGCAGCGAGCAGGCAGAGGGGCAAGGCTGTCACCTCTTCATATTTGCGGTCTGAATCCTCAGCGATGTGCTTGGCCTCCTTCAGCTGCATCTCCTGCAGTTCCATCTTCTCCTCATCCTTCATGGCCCGGTTTTCGATGACCTTCATTCCTCTGAAAGGCAGGGAGAGGGTGAGCGTAGGGTCAGGACCAGCAGAGACAGGCTCCCTTCTCCCTCCCGGACCATCCTCCCCGAGGCCCCTGACCACCTCTCGCTCTCATCAGCCGCCTTCTTGGCCTCCTCCAGCTTCTGCAGGGCTGTAGCCAGGCGCTCCTGGGCCCGGTCCAGCTCCTCCTCAACCAGCTGAATGCGGCGGTTCAGGGAGGCCACATCTGCCTCAGCCTGTGGGTCAGAGGTCAGGGGTCAAAAAGGCCTTGTTAGCCTTGGATAAGGATCAGAGAGGCTCCAGAGGATGGCGAGATTCTTCTCAGAAAGAACTGAGGCTTCCTGGTTTCTAGACATTCTATGTGATTTTTCCCCAACCAATCATCTTCTGCCCAGACTGTGCTCCAGTAAAAAATGTGCATTCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCCGCACTCTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACTCTGTCTCTATTAAAAATAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGGTCGTGCCACTGCACTCCAGCCTGGGTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATTCCTTGCTTGACAAGCTCCGCTCCCCTGCTGCAGGGCCTCTCCTGCACTGTGCACAGTTAGTCTCCCAAAGGTCACCTGCACACAAGTCCTCCTGTTCCCTGTGGGAGCACTTCAAGTGCTGGGGCCAGGTCTGATGCAGCTCTGATTCCTACACAGCAAAGCCTGGCCCAGGTAAGGGGATGGGAGGAGAATCAGGCCAACCAGACATCACTGCTGCTAAGAATAGCCCGTCACAGAATCAAGCTCAGTGATACTGGGCATGGTGGTGCATGCCTGTCATCCCAGCTACTCCGAAGGCTAAGGCGGGAGTTCAGCTTGACCCCAGGAGCCCTGCCTGGGAAACATAGCAAGATCCCATCTCAAAAAAAAAAAAAAAAAAAAGTATCAAGTTCAGTGATGTCATCTGTCATCAGCTGTAAGGCAGACTCCCAGCAAGAAGCCCAAGAGGCAGGCCTATAAGGAATACCCATGGCTGTAGCAAGGGGCTCCCTGCCAAGGCCAGCAGAGAGCTGGGGGCAATGCAGGGGCAGTGTGAGGGATGTCTACTCAGCCCCTGGGCTTGCAGTAGGAGGCAAAACCATGGAGGTTTTGGAAAAAATCCATAAAAACTGGTCAAACACTGAGAAAAAGGGCAGAGCAAGGCGAGCGCCAGTAAAGGAAAATGAGAGGAGCAGGGCAGCCACGTGTTAAGAGCATCGGCTCTGAGTCAGATTGTCTTTGAGCCACGGCTCAGCCACTCAACACCTGTGTAACTGTGGGCAACTTATTTAGCCTCTCTAAGCTTCAGTTTCCTCCTTCACAAGTTGGAGTTAACAATAACAGTTCCTCCTTCTTAAGGCTGTTCTGAGATAATCCACTGCTTTTAATACTCAGTTAATCAACAGGACCTTCGGTGAGACTCATAAAACTAAACAGGTTCTCTTACTCCATGCTAGATCCACTGAATTGGGATGTGTAGGGCGGGGGCTTGGGAATCTTCTCTTTTTTTTTTAAAGCCCCCGAGTGATTCTGATGATAAGCCAAGTTTGGGAAATTGTAAAATAACATGCAGAAAGCACTGAGTACATTGCCTGCACAGGGTCCACATTCCATAAATATTAGGTTATCCCCTTTCTCTGTCAAAAACAAGGACACAGAGACCCTGAGATTTCAGAGTGGAAAGGAGAGAGGACCTGTGTAGGGAAAGGAGGTGGGGGGAGGGGCTGGGGGCAGCACTTGGACACAGCATAGGAAGCAGGTCCTTGGTCGGACTGTAGGGCAGGAGAAACAGCACCATATATAGAGAGTAGATGGTAGCTTGTCTTCCAGGTGCTGAAGGCACCTGGAGCTTGGCCACCTAGAGTGACAAGAGCCCATCATGGGCACAGGGCCGGATGACAGTGTGGAAGCATTCTGGGGACAGCATTGGGGGTTGGGAAGAATCACTGTGGGGGACATTGGAGTA
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Task1_train_12814
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The variant affects gene TPM2 (tropomyosin 2), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Arthrogryposis, distal, type 2B4
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AAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATGTTCAGTCCAACAGCTCTCTAGTTAATAAGCCAGTCTCTGCACTAGAACTCTACTGCGTTACACTCGGGGACGGAATTGTCTATAAGGGTGCCACTCAGAGTGTGGCATGAGGACCAGCAGCATTGGCAGTACCAGAGAACTAGCTAGAAATGTAAATCCTCCAGCCCAAAGTCAGCAATCTCTTTGGGGCAGAGTCAAGGAATCTGTTTTTAAAACTCTCCCAGTGATTCTCATGCATGCTGAAGTTTGAGAAGCACTGGAGTTGTTGCGCCGTGGGCAGCTACAATTACTTGAATTGTAGACATGGCCCACAGAGTTGGGGAGTTGGTAGGGTCCTAGGTGGCCCAACCCTAGTTTATTGGTGGCAAATAAAATGGGATGAGAAGGTACAGGACAGACTGATAATCACGGCAGGTGTGGACCTACTTATAAAGGCTTCTTTTACCTTCTAGGTCATCGATGGTTTTCTCCAACTTTGCCACAGACCTCTCGGCAAACTCTGCTCGGGTCTCAGCCTGGGGGTAAAGGCAGGATGGGAGAAATGGCAAAGAATTAGGCCCTCCCACAGACTACTGCCTAAGTCAAGCTTCTTGTCCATCCCAACCCTCAAGTGTCCTGCCACAGGCCGTCTCTGGCAAGGATTAGGGTGGCTTGAGGGGAGACTGGGAACTGGAAGAGGACTCTCACCTCCTTCAGCTTCTCCTCCAACAGTTTGATCTCCTCTTCATATTTATCTTCTTTGGTGGAATACTTTTGGGGACACACACACGCCATCAGTACAGCGCTACCACAGATCCTTCATTTCTCCATTGTACCCCGTAGGCTCCTGGTCATCTTGCCTCCGTTGAACACCCAGCCCCTCCCTGCCTTGGGCCCCTCACCTCCCTCCCCTGTGGGACCCCATCCTCACTGCCCCTCTGCTCCCCTCTACCTTGTCCGCCTGGGCCTCCAGGGATTTCAAGTTGTTGGTAACAATTTTCAGCTCCTCCTCTAGGTCCCCACATTTACTGCAGGGGGTGTGTGGCGGGGGGGGCAGGGTGTGAGGGCACAGCGAAGCCAGACAGTGGAGATGGCACAGCAGGGGACGGGTGGAGGAGAGAAGAGAAGAGCAAAGTTGTGAGAGTGACAGCAGGCAGGGCTCAGAAGCCCCAGGCCCTTCCTGATCCCCAGCAGCTGAGAAAGAGCAGCCTGCGGTGCTGAGACGGAGGGAAGGTGAGCTGAGAGAAGGCGCCATTGCCCAGAAAGGTTCAGAGGGGTCACTACCTCCTCCTCTGAGGCCATCAGGGACTTGAGGGCCTGGTCCATGGTTCGAAGTTCCTCCTCCAGCTGTCTGGCTCGGCTGGGGGCAGCGGGCAGGGGTCAGAGAACAGGGCCTGTCCCTACAGCCCCAAGCCTAGGATGCTACCTTCCCACTGTGTGGAAGGCCCCAGGGCCAATGGGCTCACTTGTCACCCCCGGGTATCTTTACCTCTCGGCCACCTCAGCCCTCTCCTCCGAGCGCTCCAGCTCTCCTTCCAGGATCACCAGCTTCCTGGCCACCTGTGGGGAGTGAGAAAGAGAGGGTAGATCAGTGGAGAAGGACTGGGCATGTTGCAGGCTGGGCAGCGAGCAGGCAGAGGGGCAAGGCTGTCACCTCTTCATATTTGCGGTCTGAATCCTCAGCGATGTGCTTGGCCTCCTTCAGCTGCATCTCCTGCAGTTCCATCTTCTCCTCATCCTTCATGGCCCGGTTTTCGATGACCTTCATTCCTCTGAAAGGCAGGGAGAGGGTGAGCGTAGGGTCAGGACCAGCAGAGACAGGCTCCCTTCTCCCTCCCGGACCATCCTCCCCGAGGCCCCTGACCACCTCTCGCTCTCATCAGCCGCCTTCTCGGCCTCCTCCAGCTTCTGCAGGGCTGTAGCCAGGCGCTCCTGGGCCCGGTCCAGCTCCTCCTCAACCAGCTGAATGCGGCGGTTCAGGGAGGCCACATCTGCCTCAGCCTGTGGGTCAGAGGTCAGGGGTCAAAAAGGCCTTGTTAGCCTTGGATAAGGATCAGAGAGGCTCCAGAGGATGGCGAGATTCTTCTCAGAAAGAACTGAGGCTTCCTGGTTTCTAGACATTCTATGTGATTTTTCCCCAACCAATCATCTTCTGCCCAGACTGTGCTCCAGTAAAAAATGTGCATTCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCCGCACTCTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACTCTGTCTCTATTAAAAATAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGGTCGTGCCACTGCACTCCAGCCTGGGTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATTCCTTGCTTGACAAGCTCCGCTCCCCTGCTGCAGGGCCTCTCCTGCACTGTGCACAGTTAGTCTCCCAAAGGTCACCTGCACACAAGTCCTCCTGTTCCCTGTGGGAGCACTTCAAGTGCTGGGGCCAGGTCTGATGCAGCTCTGATTCCTACACAGCAAAGCCTGGCCCAGGTAAGGGGATGGGAGGAGAATCAGGCCAACCAGACATCACTGCTGCTAAGAATAGCCCGTCACAGAATCAAGCTCAGTGATACTGGGCATGGTGGTGCATGCCTGTCATCCCAGCTACTCCGAAGGCTAAGGCGGGAGTTCAGCTTGACCCCAGGAGCCCTGCCTGGGAAACATAGCAAGATCCCATCTCAAAAAAAAAAAAAAAAAAAAGTATCAAGTTCAGTGATGTCATCTGTCATCAGCTGTAAGGCAGACTCCCAGCAAGAAGCCCAAGAGGCAGGCCTATAAGGAATACCCATGGCTGTAGCAAGGGGCTCCCTGCCAAGGCCAGCAGAGAGCTGGGGGCAATGCAGGGGCAGTGTGAGGGATGTCTACTCAGCCCCTGGGCTTGCAGTAGGAGGCAAAACCATGGAGGTTTTGGAAAAAATCCATAAAAACTGGTCAAACACTGAGAAAAAGGGCAGAGCAAGGCGAGCGCCAGTAAAGGAAAATGAGAGGAGCAGGGCAGCCACGTGTTAAGAGCATCGGCTCTGAGTCAGATTGTCTTTGAGCCACGGCTCAGCCACTCAACACCTGTGTAACTGTGGGCAACTTATTTAGCCTCTCTAAGCTTCAGTTTCCTCCTTCACAAGTTGGAGTTAACAATAACAGTTCCTCCTTCTTAAGGCTGTTCTGAGATAATCCACTGCTTTTAATACTCAGTTAATCAACAGGACCTTCGGTGAGACTCATAAAACTAAACAGGTTCTCTTACTCCATGCTAGATCCACTGAATTGGGATGTGTAGGGCGGGGGCTTGGGAATCTTCTCTTTTTTTTTTAAAGCCCCCGAGTGATTCTGATGATAAGCCAAGTTTGGGAAATTGTAAAATAACATGCAGAAAGCACTGAGTACATTGCCTGCACAGGGTCCACATTCCATAAATATTAGGTTATCCCCTTTCTCTGTCAAAAACAAGGACACAGAGACCCTGAGATTTCAGAGTGGAAAGGAGAGAGGACCTGTGTAGGGAAAGGAGGTGGGGGGAGGGGCTGGGGGCAGCACTTGGACACAGCATAGGAAGCAGGTCCTTGGTCGGACTGTAGGGCAGGAGAAACAGCACCATATATAGAGAGTAGATGGTAGCTTGTCTTCCAGGTGCTGAAGGCACCTGGAGCTTGGCCACCTAGAGTGACAAGAGCCCATCATGGGCACAGGGCCGGATGACAGTGTGGAAGCATTCTGGGGACAGCATTGGGGGTTGGGAAGAATCACTGTGGGGGACATTGGAGTACTACCCTAGAGAGAGGTGAGACTGTAAAAGAAAAACTCTGC
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AAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATGTTCAGTCCAACAGCTCTCTAGTTAATAAGCCAGTCTCTGCACTAGAACTCTACTGCGTTACACTCGGGGACGGAATTGTCTATAAGGGTGCCACTCAGAGTGTGGCATGAGGACCAGCAGCATTGGCAGTACCAGAGAACTAGCTAGAAATGTAAATCCTCCAGCCCAAAGTCAGCAATCTCTTTGGGGCAGAGTCAAGGAATCTGTTTTTAAAACTCTCCCAGTGATTCTCATGCATGCTGAAGTTTGAGAAGCACTGGAGTTGTTGCGCCGTGGGCAGCTACAATTACTTGAATTGTAGACATGGCCCACAGAGTTGGGGAGTTGGTAGGGTCCTAGGTGGCCCAACCCTAGTTTATTGGTGGCAAATAAAATGGGATGAGAAGGTACAGGACAGACTGATAATCACGGCAGGTGTGGACCTACTTATAAAGGCTTCTTTTACCTTCTAGGTCATCGATGGTTTTCTCCAACTTTGCCACAGACCTCTCGGCAAACTCTGCTCGGGTCTCAGCCTGGGGGTAAAGGCAGGATGGGAGAAATGGCAAAGAATTAGGCCCTCCCACAGACTACTGCCTAAGTCAAGCTTCTTGTCCATCCCAACCCTCAAGTGTCCTGCCACAGGCCGTCTCTGGCAAGGATTAGGGTGGCTTGAGGGGAGACTGGGAACTGGAAGAGGACTCTCACCTCCTTCAGCTTCTCCTCCAACAGTTTGATCTCCTCTTCATATTTATCTTCTTTGGTGGAATACTTTTGGGGACACACACACGCCATCAGTACAGCGCTACCACAGATCCTTCATTTCTCCATTGTACCCCGTAGGCTCCTGGTCATCTTGCCTCCGTTGAACACCCAGCCCCTCCCTGCCTTGGGCCCCTCACCTCCCTCCCCTGTGGGACCCCATCCTCACTGCCCCTCTGCTCCCCTCTACCTTGTCCGCCTGGGCCTCCAGGGATTTCAAGTTGTTGGTAACAATTTTCAGCTCCTCCTCTAGGTCCCCACATTTACTGCAGGGGGTGTGTGGCGGGGGGGGCAGGGTGTGAGGGCACAGCGAAGCCAGACAGTGGAGATGGCACAGCAGGGGACGGGTGGAGGAGAGAAGAGAAGAGCAAAGTTGTGAGAGTGACAGCAGGCAGGGCTCAGAAGCCCCAGGCCCTTCCTGATCCCCAGCAGCTGAGAAAGAGCAGCCTGCGGTGCTGAGACGGAGGGAAGGTGAGCTGAGAGAAGGCGCCATTGCCCAGAAAGGTTCAGAGGGGTCACTACCTCCTCCTCTGAGGCCATCAGGGACTTGAGGGCCTGGTCCATGGTTCGAAGTTCCTCCTCCAGCTGTCTGGCTCGGCTGGGGGCAGCGGGCAGGGGTCAGAGAACAGGGCCTGTCCCTACAGCCCCAAGCCTAGGATGCTACCTTCCCACTGTGTGGAAGGCCCCAGGGCCAATGGGCTCACTTGTCACCCCCGGGTATCTTTACCTCTCGGCCACCTCAGCCCTCTCCTCCGAGCGCTCCAGCTCTCCTTCCAGGATCACCAGCTTCCTGGCCACCTGTGGGGAGTGAGAAAGAGAGGGTAGATCAGTGGAGAAGGACTGGGCATGTTGCAGGCTGGGCAGCGAGCAGGCAGAGGGGCAAGGCTGTCACCTCTTCATATTTGCGGTCTGAATCCTCAGCGATGTGCTTGGCCTCCTTCAGCTGCATCTCCTGCAGTTCCATCTTCTCCTCATCCTTCATGGCCCGGTTTTCGATGACCTTCATTCCTCTGAAAGGCAGGGAGAGGGTGAGCGTAGGGTCAGGACCAGCAGAGACAGGCTCCCTTCTCCCTCCCGGACCATCCTCCCCGAGGCCCCTGACCACCTCTCGCTCTCATCAGCCGCCTTCTCGGCCTCCTCCAGCTTCTGCAGGGCTGTAGCCAGGCGCTCCCGGGCCCGGTCCAGCTCCTCCTCAACCAGCTGAATGCGGCGGTTCAGGGAGGCCACATCTGCCTCAGCCTGTGGGTCAGAGGTCAGGGGTCAAAAAGGCCTTGTTAGCCTTGGATAAGGATCAGAGAGGCTCCAGAGGATGGCGAGATTCTTCTCAGAAAGAACTGAGGCTTCCTGGTTTCTAGACATTCTATGTGATTTTTCCCCAACCAATCATCTTCTGCCCAGACTGTGCTCCAGTAAAAAATGTGCATTCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCCGCACTCTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACTCTGTCTCTATTAAAAATAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGGTCGTGCCACTGCACTCCAGCCTGGGTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATTCCTTGCTTGACAAGCTCCGCTCCCCTGCTGCAGGGCCTCTCCTGCACTGTGCACAGTTAGTCTCCCAAAGGTCACCTGCACACAAGTCCTCCTGTTCCCTGTGGGAGCACTTCAAGTGCTGGGGCCAGGTCTGATGCAGCTCTGATTCCTACACAGCAAAGCCTGGCCCAGGTAAGGGGATGGGAGGAGAATCAGGCCAACCAGACATCACTGCTGCTAAGAATAGCCCGTCACAGAATCAAGCTCAGTGATACTGGGCATGGTGGTGCATGCCTGTCATCCCAGCTACTCCGAAGGCTAAGGCGGGAGTTCAGCTTGACCCCAGGAGCCCTGCCTGGGAAACATAGCAAGATCCCATCTCAAAAAAAAAAAAAAAAAAAAGTATCAAGTTCAGTGATGTCATCTGTCATCAGCTGTAAGGCAGACTCCCAGCAAGAAGCCCAAGAGGCAGGCCTATAAGGAATACCCATGGCTGTAGCAAGGGGCTCCCTGCCAAGGCCAGCAGAGAGCTGGGGGCAATGCAGGGGCAGTGTGAGGGATGTCTACTCAGCCCCTGGGCTTGCAGTAGGAGGCAAAACCATGGAGGTTTTGGAAAAAATCCATAAAAACTGGTCAAACACTGAGAAAAAGGGCAGAGCAAGGCGAGCGCCAGTAAAGGAAAATGAGAGGAGCAGGGCAGCCACGTGTTAAGAGCATCGGCTCTGAGTCAGATTGTCTTTGAGCCACGGCTCAGCCACTCAACACCTGTGTAACTGTGGGCAACTTATTTAGCCTCTCTAAGCTTCAGTTTCCTCCTTCACAAGTTGGAGTTAACAATAACAGTTCCTCCTTCTTAAGGCTGTTCTGAGATAATCCACTGCTTTTAATACTCAGTTAATCAACAGGACCTTCGGTGAGACTCATAAAACTAAACAGGTTCTCTTACTCCATGCTAGATCCACTGAATTGGGATGTGTAGGGCGGGGGCTTGGGAATCTTCTCTTTTTTTTTTAAAGCCCCCGAGTGATTCTGATGATAAGCCAAGTTTGGGAAATTGTAAAATAACATGCAGAAAGCACTGAGTACATTGCCTGCACAGGGTCCACATTCCATAAATATTAGGTTATCCCCTTTCTCTGTCAAAAACAAGGACACAGAGACCCTGAGATTTCAGAGTGGAAAGGAGAGAGGACCTGTGTAGGGAAAGGAGGTGGGGGGAGGGGCTGGGGGCAGCACTTGGACACAGCATAGGAAGCAGGTCCTTGGTCGGACTGTAGGGCAGGAGAAACAGCACCATATATAGAGAGTAGATGGTAGCTTGTCTTCCAGGTGCTGAAGGCACCTGGAGCTTGGCCACCTAGAGTGACAAGAGCCCATCATGGGCACAGGGCCGGATGACAGTGTGGAAGCATTCTGGGGACAGCATTGGGGGTTGGGAAGAATCACTGTGGGGGACATTGGAGTACTACCCTAGAGAGAGGTGAGACTGTAAAAGAAAAACTCTGC
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Task1_train_12815
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This variant affects gene TPM2 (tropomyosin 2) located on Chromosome 9. Evaluate its biological effect and specify any disease association.
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Pathogenic; Arthrogryposis, distal, type 1A
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TAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATGTTCAGTCCAACAGCTCTCTAGTTAATAAGCCAGTCTCTGCACTAGAACTCTACTGCGTTACACTCGGGGACGGAATTGTCTATAAGGGTGCCACTCAGAGTGTGGCATGAGGACCAGCAGCATTGGCAGTACCAGAGAACTAGCTAGAAATGTAAATCCTCCAGCCCAAAGTCAGCAATCTCTTTGGGGCAGAGTCAAGGAATCTGTTTTTAAAACTCTCCCAGTGATTCTCATGCATGCTGAAGTTTGAGAAGCACTGGAGTTGTTGCGCCGTGGGCAGCTACAATTACTTGAATTGTAGACATGGCCCACAGAGTTGGGGAGTTGGTAGGGTCCTAGGTGGCCCAACCCTAGTTTATTGGTGGCAAATAAAATGGGATGAGAAGGTACAGGACAGACTGATAATCACGGCAGGTGTGGACCTACTTATAAAGGCTTCTTTTACCTTCTAGGTCATCGATGGTTTTCTCCAACTTTGCCACAGACCTCTCGGCAAACTCTGCTCGGGTCTCAGCCTGGGGGTAAAGGCAGGATGGGAGAAATGGCAAAGAATTAGGCCCTCCCACAGACTACTGCCTAAGTCAAGCTTCTTGTCCATCCCAACCCTCAAGTGTCCTGCCACAGGCCGTCTCTGGCAAGGATTAGGGTGGCTTGAGGGGAGACTGGGAACTGGAAGAGGACTCTCACCTCCTTCAGCTTCTCCTCCAACAGTTTGATCTCCTCTTCATATTTATCTTCTTTGGTGGAATACTTTTGGGGACACACACACGCCATCAGTACAGCGCTACCACAGATCCTTCATTTCTCCATTGTACCCCGTAGGCTCCTGGTCATCTTGCCTCCGTTGAACACCCAGCCCCTCCCTGCCTTGGGCCCCTCACCTCCCTCCCCTGTGGGACCCCATCCTCACTGCCCCTCTGCTCCCCTCTACCTTGTCCGCCTGGGCCTCCAGGGATTTCAAGTTGTTGGTAACAATTTTCAGCTCCTCCTCTAGGTCCCCACATTTACTGCAGGGGGTGTGTGGCGGGGGGGGCAGGGTGTGAGGGCACAGCGAAGCCAGACAGTGGAGATGGCACAGCAGGGGACGGGTGGAGGAGAGAAGAGAAGAGCAAAGTTGTGAGAGTGACAGCAGGCAGGGCTCAGAAGCCCCAGGCCCTTCCTGATCCCCAGCAGCTGAGAAAGAGCAGCCTGCGGTGCTGAGACGGAGGGAAGGTGAGCTGAGAGAAGGCGCCATTGCCCAGAAAGGTTCAGAGGGGTCACTACCTCCTCCTCTGAGGCCATCAGGGACTTGAGGGCCTGGTCCATGGTTCGAAGTTCCTCCTCCAGCTGTCTGGCTCGGCTGGGGGCAGCGGGCAGGGGTCAGAGAACAGGGCCTGTCCCTACAGCCCCAAGCCTAGGATGCTACCTTCCCACTGTGTGGAAGGCCCCAGGGCCAATGGGCTCACTTGTCACCCCCGGGTATCTTTACCTCTCGGCCACCTCAGCCCTCTCCTCCGAGCGCTCCAGCTCTCCTTCCAGGATCACCAGCTTCCTGGCCACCTGTGGGGAGTGAGAAAGAGAGGGTAGATCAGTGGAGAAGGACTGGGCATGTTGCAGGCTGGGCAGCGAGCAGGCAGAGGGGCAAGGCTGTCACCTCTTCATATTTGCGGTCTGAATCCTCAGCGATGTGCTTGGCCTCCTTCAGCTGCATCTCCTGCAGTTCCATCTTCTCCTCATCCTTCATGGCCCGGTTTTCGATGACCTTCATTCCTCTGAAAGGCAGGGAGAGGGTGAGCGTAGGGTCAGGACCAGCAGAGACAGGCTCCCTTCTCCCTCCCGGACCATCCTCCCCGAGGCCCCTGACCACCTCTCGCTCTCATCAGCCGCCTTCTCGGCCTCCTCCAGCTTCTGCAGGGCTGTAGCCAGGCGCTCCTGGGCCCGGTCCAGCTCCTCCTCAACCAGCTGAATGCGGCGGTTCAGGGAGGCCACATCTGCCTCAGCCTGTGGGTCAGAGGTCAGGGGTCAAAAAGGCCTTGTTAGCCTTGGATAAGGATCAGAGAGGCTCCAGAGGATGGCGAGATTCTTCTCAGAAAGAACTGAGGCTTCCTGGTTTCTAGACATTCTATGTGATTTTTCCCCAACCAATCATCTTCTGCCCAGACTGTGCTCCAGTAAAAAATGTGCATTCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCCGCACTCTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACTCTGTCTCTATTAAAAATAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGGTCGTGCCACTGCACTCCAGCCTGGGTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATTCCTTGCTTGACAAGCTCCGCTCCCCTGCTGCAGGGCCTCTCCTGCACTGTGCACAGTTAGTCTCCCAAAGGTCACCTGCACACAAGTCCTCCTGTTCCCTGTGGGAGCACTTCAAGTGCTGGGGCCAGGTCTGATGCAGCTCTGATTCCTACACAGCAAAGCCTGGCCCAGGTAAGGGGATGGGAGGAGAATCAGGCCAACCAGACATCACTGCTGCTAAGAATAGCCCGTCACAGAATCAAGCTCAGTGATACTGGGCATGGTGGTGCATGCCTGTCATCCCAGCTACTCCGAAGGCTAAGGCGGGAGTTCAGCTTGACCCCAGGAGCCCTGCCTGGGAAACATAGCAAGATCCCATCTCAAAAAAAAAAAAAAAAAAAAGTATCAAGTTCAGTGATGTCATCTGTCATCAGCTGTAAGGCAGACTCCCAGCAAGAAGCCCAAGAGGCAGGCCTATAAGGAATACCCATGGCTGTAGCAAGGGGCTCCCTGCCAAGGCCAGCAGAGAGCTGGGGGCAATGCAGGGGCAGTGTGAGGGATGTCTACTCAGCCCCTGGGCTTGCAGTAGGAGGCAAAACCATGGAGGTTTTGGAAAAAATCCATAAAAACTGGTCAAACACTGAGAAAAAGGGCAGAGCAAGGCGAGCGCCAGTAAAGGAAAATGAGAGGAGCAGGGCAGCCACGTGTTAAGAGCATCGGCTCTGAGTCAGATTGTCTTTGAGCCACGGCTCAGCCACTCAACACCTGTGTAACTGTGGGCAACTTATTTAGCCTCTCTAAGCTTCAGTTTCCTCCTTCACAAGTTGGAGTTAACAATAACAGTTCCTCCTTCTTAAGGCTGTTCTGAGATAATCCACTGCTTTTAATACTCAGTTAATCAACAGGACCTTCGGTGAGACTCATAAAACTAAACAGGTTCTCTTACTCCATGCTAGATCCACTGAATTGGGATGTGTAGGGCGGGGGCTTGGGAATCTTCTCTTTTTTTTTTAAAGCCCCCGAGTGATTCTGATGATAAGCCAAGTTTGGGAAATTGTAAAATAACATGCAGAAAGCACTGAGTACATTGCCTGCACAGGGTCCACATTCCATAAATATTAGGTTATCCCCTTTCTCTGTCAAAAACAAGGACACAGAGACCCTGAGATTTCAGAGTGGAAAGGAGAGAGGACCTGTGTAGGGAAAGGAGGTGGGGGGAGGGGCTGGGGGCAGCACTTGGACACAGCATAGGAAGCAGGTCCTTGGTCGGACTGTAGGGCAGGAGAAACAGCACCATATATAGAGAGTAGATGGTAGCTTGTCTTCCAGGTGCTGAAGGCACCTGGAGCTTGGCCACCTAGAGTGACAAGAGCCCATCATGGGCACAGGGCCGGATGACAGTGTGGAAGCATTCTGGGGACAGCATTGGGGGTTGGGAAGAATCACTGTGGGGGACATTGGAGTACTACCCTAGAGAGAGGTGAGACTGTAAAAGAAAAACTCTGCATGATGGTGGGGTGACAAAAGACTCTGGAAAGTTTGG
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TAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATGTTCAGTCCAACAGCTCTCTAGTTAATAAGCCAGTCTCTGCACTAGAACTCTACTGCGTTACACTCGGGGACGGAATTGTCTATAAGGGTGCCACTCAGAGTGTGGCATGAGGACCAGCAGCATTGGCAGTACCAGAGAACTAGCTAGAAATGTAAATCCTCCAGCCCAAAGTCAGCAATCTCTTTGGGGCAGAGTCAAGGAATCTGTTTTTAAAACTCTCCCAGTGATTCTCATGCATGCTGAAGTTTGAGAAGCACTGGAGTTGTTGCGCCGTGGGCAGCTACAATTACTTGAATTGTAGACATGGCCCACAGAGTTGGGGAGTTGGTAGGGTCCTAGGTGGCCCAACCCTAGTTTATTGGTGGCAAATAAAATGGGATGAGAAGGTACAGGACAGACTGATAATCACGGCAGGTGTGGACCTACTTATAAAGGCTTCTTTTACCTTCTAGGTCATCGATGGTTTTCTCCAACTTTGCCACAGACCTCTCGGCAAACTCTGCTCGGGTCTCAGCCTGGGGGTAAAGGCAGGATGGGAGAAATGGCAAAGAATTAGGCCCTCCCACAGACTACTGCCTAAGTCAAGCTTCTTGTCCATCCCAACCCTCAAGTGTCCTGCCACAGGCCGTCTCTGGCAAGGATTAGGGTGGCTTGAGGGGAGACTGGGAACTGGAAGAGGACTCTCACCTCCTTCAGCTTCTCCTCCAACAGTTTGATCTCCTCTTCATATTTATCTTCTTTGGTGGAATACTTTTGGGGACACACACACGCCATCAGTACAGCGCTACCACAGATCCTTCATTTCTCCATTGTACCCCGTAGGCTCCTGGTCATCTTGCCTCCGTTGAACACCCAGCCCCTCCCTGCCTTGGGCCCCTCACCTCCCTCCCCTGTGGGACCCCATCCTCACTGCCCCTCTGCTCCCCTCTACCTTGTCCGCCTGGGCCTCCAGGGATTTCAAGTTGTTGGTAACAATTTTCAGCTCCTCCTCTAGGTCCCCACATTTACTGCAGGGGGTGTGTGGCGGGGGGGGCAGGGTGTGAGGGCACAGCGAAGCCAGACAGTGGAGATGGCACAGCAGGGGACGGGTGGAGGAGAGAAGAGAAGAGCAAAGTTGTGAGAGTGACAGCAGGCAGGGCTCAGAAGCCCCAGGCCCTTCCTGATCCCCAGCAGCTGAGAAAGAGCAGCCTGCGGTGCTGAGACGGAGGGAAGGTGAGCTGAGAGAAGGCGCCATTGCCCAGAAAGGTTCAGAGGGGTCACTACCTCCTCCTCTGAGGCCATCAGGGACTTGAGGGCCTGGTCCATGGTTCGAAGTTCCTCCTCCAGCTGTCTGGCTCGGCTGGGGGCAGCGGGCAGGGGTCAGAGAACAGGGCCTGTCCCTACAGCCCCAAGCCTAGGATGCTACCTTCCCACTGTGTGGAAGGCCCCAGGGCCAATGGGCTCACTTGTCACCCCCGGGTATCTTTACCTCTCGGCCACCTCAGCCCTCTCCTCCGAGCGCTCCAGCTCTCCTTCCAGGATCACCAGCTTCCTGGCCACCTGTGGGGAGTGAGAAAGAGAGGGTAGATCAGTGGAGAAGGACTGGGCATGTTGCAGGCTGGGCAGCGAGCAGGCAGAGGGGCAAGGCTGTCACCTCTTCATATTTGCGGTCTGAATCCTCAGCGATGTGCTTGGCCTCCTTCAGCTGCATCTCCTGCAGTTCCATCTTCTCCTCATCCTTCATGGCCCGGTTTTCGATGACCTTCATTCCTCTGAAAGGCAGGGAGAGGGTGAGCGTAGGGTCAGGACCAGCAGAGACAGGCTCCCTTCTCCCTCCCGGACCATCCTCCCCGAGGCCCCTGACCACCTCTCGCTCTCATCAGCCGCCTTCTCGGCCTCCTCCAGCTTCTGCAGGGCTGTAGCCAGGCGCTCCTGGGCCCGGTCCAGCTCCTCCTCAACCAGCTGAATGCCGCGGTTCAGGGAGGCCACATCTGCCTCAGCCTGTGGGTCAGAGGTCAGGGGTCAAAAAGGCCTTGTTAGCCTTGGATAAGGATCAGAGAGGCTCCAGAGGATGGCGAGATTCTTCTCAGAAAGAACTGAGGCTTCCTGGTTTCTAGACATTCTATGTGATTTTTCCCCAACCAATCATCTTCTGCCCAGACTGTGCTCCAGTAAAAAATGTGCATTCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCCGCACTCTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTGAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACTCTGTCTCTATTAAAAATAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGGTCGTGCCACTGCACTCCAGCCTGGGTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATTCCTTGCTTGACAAGCTCCGCTCCCCTGCTGCAGGGCCTCTCCTGCACTGTGCACAGTTAGTCTCCCAAAGGTCACCTGCACACAAGTCCTCCTGTTCCCTGTGGGAGCACTTCAAGTGCTGGGGCCAGGTCTGATGCAGCTCTGATTCCTACACAGCAAAGCCTGGCCCAGGTAAGGGGATGGGAGGAGAATCAGGCCAACCAGACATCACTGCTGCTAAGAATAGCCCGTCACAGAATCAAGCTCAGTGATACTGGGCATGGTGGTGCATGCCTGTCATCCCAGCTACTCCGAAGGCTAAGGCGGGAGTTCAGCTTGACCCCAGGAGCCCTGCCTGGGAAACATAGCAAGATCCCATCTCAAAAAAAAAAAAAAAAAAAAGTATCAAGTTCAGTGATGTCATCTGTCATCAGCTGTAAGGCAGACTCCCAGCAAGAAGCCCAAGAGGCAGGCCTATAAGGAATACCCATGGCTGTAGCAAGGGGCTCCCTGCCAAGGCCAGCAGAGAGCTGGGGGCAATGCAGGGGCAGTGTGAGGGATGTCTACTCAGCCCCTGGGCTTGCAGTAGGAGGCAAAACCATGGAGGTTTTGGAAAAAATCCATAAAAACTGGTCAAACACTGAGAAAAAGGGCAGAGCAAGGCGAGCGCCAGTAAAGGAAAATGAGAGGAGCAGGGCAGCCACGTGTTAAGAGCATCGGCTCTGAGTCAGATTGTCTTTGAGCCACGGCTCAGCCACTCAACACCTGTGTAACTGTGGGCAACTTATTTAGCCTCTCTAAGCTTCAGTTTCCTCCTTCACAAGTTGGAGTTAACAATAACAGTTCCTCCTTCTTAAGGCTGTTCTGAGATAATCCACTGCTTTTAATACTCAGTTAATCAACAGGACCTTCGGTGAGACTCATAAAACTAAACAGGTTCTCTTACTCCATGCTAGATCCACTGAATTGGGATGTGTAGGGCGGGGGCTTGGGAATCTTCTCTTTTTTTTTTAAAGCCCCCGAGTGATTCTGATGATAAGCCAAGTTTGGGAAATTGTAAAATAACATGCAGAAAGCACTGAGTACATTGCCTGCACAGGGTCCACATTCCATAAATATTAGGTTATCCCCTTTCTCTGTCAAAAACAAGGACACAGAGACCCTGAGATTTCAGAGTGGAAAGGAGAGAGGACCTGTGTAGGGAAAGGAGGTGGGGGGAGGGGCTGGGGGCAGCACTTGGACACAGCATAGGAAGCAGGTCCTTGGTCGGACTGTAGGGCAGGAGAAACAGCACCATATATAGAGAGTAGATGGTAGCTTGTCTTCCAGGTGCTGAAGGCACCTGGAGCTTGGCCACCTAGAGTGACAAGAGCCCATCATGGGCACAGGGCCGGATGACAGTGTGGAAGCATTCTGGGGACAGCATTGGGGGTTGGGAAGAATCACTGTGGGGGACATTGGAGTACTACCCTAGAGAGAGGTGAGACTGTAAAAGAAAAACTCTGCATGATGGTGGGGTGACAAAAGACTCTGGAAAGTTTGG
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Task1_train_12816
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A change on Chromosome 9 affects gene TPM2 (tropomyosin 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Arthrogryposis, distal, type 1A
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TGAATTGGGATGTGTAGGGCGGGGGCTTGGGAATCTTCTCTTTTTTTTTTAAAGCCCCCGAGTGATTCTGATGATAAGCCAAGTTTGGGAAATTGTAAAATAACATGCAGAAAGCACTGAGTACATTGCCTGCACAGGGTCCACATTCCATAAATATTAGGTTATCCCCTTTCTCTGTCAAAAACAAGGACACAGAGACCCTGAGATTTCAGAGTGGAAAGGAGAGAGGACCTGTGTAGGGAAAGGAGGTGGGGGGAGGGGCTGGGGGCAGCACTTGGACACAGCATAGGAAGCAGGTCCTTGGTCGGACTGTAGGGCAGGAGAAACAGCACCATATATAGAGAGTAGATGGTAGCTTGTCTTCCAGGTGCTGAAGGCACCTGGAGCTTGGCCACCTAGAGTGACAAGAGCCCATCATGGGCACAGGGCCGGATGACAGTGTGGAAGCATTCTGGGGACAGCATTGGGGGTTGGGAAGAATCACTGTGGGGGACATTGGAGTACTACCCTAGAGAGAGGTGAGACTGTAAAAGAAAAACTCTGCATGATGGTGGGGTGACAAAAGACTCTGGAAAGTTTGGGAAGTCCTGGGGTCCTCATCATGGGACTGATATGTGCCATTTCCTGCCTCTCAAGCTCTTCCCAGTTACGGGGGCGGCTCTCTAACCACAGGACAGGCACTACTGTCCCCATTAGAAAAATGGGAAGCAAGAGAGAGGGAGAAACTGAGGCACCATGTAAGTTGAGTGCTGTGTTCAAGGTCACCAGGAAGCTTGGGCAGTCTTTCCTATCTGCTCCTGGTGCTGCGGCTCTGCCTCCCCAGCTCTGTCCCTGTCCCCCCTGCCCCTCCAGCCCCCACCAGCAACTTGGGTTTCCAATCTTGCCTCCAGCTGCACTGGGCCTTGGTTATTTATAGAGTGTCAGATGCCCAGGGTTGTCTGTGCTAGCAGCTGCAGGTCAGCTCCCTCCCAAGTGCCAGGACTGGTGGAGAACCAAAACTGGAGGCTGGAGGTCACAGAAGCCCAACCCCTGGGGGGCTGGGAACATGAGCAGTCGACACAAACAGCTATGTCATCTCTGATGTTCAGACCATGCTTTATGCTAATCTAACCATAGGTTCATCTTAAAACAATCCTGGGTGGAAGGAAGATGGGGAAACTGAGGCAGAGAATGGGGAAACTACCACCACACCAAAGCCATATGGCCATTCTCCTACCTTAAGCTGGGGGTTGGGAATGGCAGGAAGTGAAGTCTGGTTGGGGTTGTGGGGTGGGCAGAGAAATCTCAGGGTAAATGACCTGCCAAGGTAGCTGCTTTGGCATTTGTGGCCCTGTCCCTCTGCCCTGTGGCCTGGCATGGTCTCCAGGCTGACAGCTTAATGAGGGTAAATGAGGAGCCATTAGAACCTGAGCTGGGGCCCCAGGGCACAGCAGGGCTGCTGAAGCCAGAGGTCAAGGCCAGGGAATTTCTAATGGCCCCTTAGGGTTGTAACTCAAGTGGGGTCTCATCTCTGGATCCCTCTCCCTCCTCCTGCAGGCTAGTACCTCACATCCACATCCCCCCATCCCCAAACGGCTGCAGTCTCCTCTCCAATTTCAGCTGGAGGATTAATTGAGGTAGATGGTAAATTCTTATACCTTCCACCCCCACAATGACTCATTGCTTGATCACTGTACATTCTAAAAGCTGGAACCAAACAGAATTACAGGGCTAAGTCCTCTGGGGGAAGTGGTAGGTGGTTTTGATTTATCCACTGTCTTGGATTACTTGTGTAAGTTTACCCTAGCCCTGGTTACTGAGATGAAACCATTTCTCTCCTGGCGCTGGGGACATAAGGGGATAAGGTGCCCCAATCCTCTTATTCCCATACCCGGGGGGCCCCTTCCCAGAGCCCTAACTCCTCCCATTGTCCCCCAAGTCCACACTCACATCAGTGGCCTTCTTCTCGGCCTGCTCCAGTTTCTCCTGGGCCTCCTTCACGGATTCAGAATACTTTTCCACCTCATCCTCTGTCCCCTTCAGCTTCTTCTGGAGGGCCTGCTGCTCCTCCTCCAGCTGGGACAGAGGGGACTTGGTCAGCCAGGCTGGGAGGGGGCCCAGGCCCAGAATGGAGACGCGGTGTGTGTAGGGGCGCTACTAAGATTTGGAGGCTACTGGGATGGAAGCGGAATAACATAAAAGGGACAGTACAGTCAAGGGTACTGGTGGGACCCGTTGAGGGTACAGAGAAAACTTCAGGCCCCAAGGAGCAGGACCAACCGCGCTCTGCAAAGGCAGAGTGGAAACCAGGGGCCTGGGGCTTCCCCAGGCTATTGTAGGGGAGAGAAGCGGCTCTGGCGAAGGCCCTGAGGGTACTGCGAAGGCCCAGCCCCCACCCTGGGTGAGAGAGAGCCTTGGCGGGCAGGCCCGGGGCTGGGGGACCCATGGCAGCGGCCCACCCTTGCCCTAGGCGCGGGGAGAGCAGGCTGCACTGGGCCCGGCCCTAACCTGCTTGCAGCGGTCCTCAGCTTGCTTCTTGTCGGCTTCGGCCTGCTCGGCGCGGTCGATGGCGTTCTCCTTGTCCAGCTTCAGCATCTGCATCTTCTTCTTGATGGCGTCCATGGCTGCGGTGGGGGGTGGGCCGGCCGGCAGGCGGTGAGGACCGGACGGACTGGGCTGGGTGAGCGGACTGGGTGCACCGGTGGCAGGCGAGGAGGACGGAGCGGGACTGGGACGTCCCGGCCACGCGGGCGCCTAAAAGGCGGGGAGGGACCGGGCGGGGCCGGCAACCAGGACCCTCCCCCACCTCGGCCCAAACCTTGTAGGGGCAGAAGCACGGCCCGGCCGGGGGGTGCGGCCGCCCCCTTCGCCCACCCACTGGGGACCGCCTCCCTTGGGGTCCCGCCCCCATCCCCCTCTTCCCTGCCAGCCGTCGGAGGAAAAAGTGGCCGACGGTCGGCTGGAAAAACCCCGGCGATGCGAAGGGGAGGGGACCCTTGGGCTGGGGGCTCCGTGCTTCCTCTGAGTGACAGCCGGACCCAGTGGCAGCTGCGGCTGGGGCCCCTGGGGCTATTTCGGGGCGTGAGCTCACGGCAGCTGCCCGGGCGCAGGGACCGGCGTGCCCCCCCTCAGCTGCAGCAGCCGCTACCCTTAATTTAGAAGTTTCCTGCAAATCCCCCCGGATTAAATGTCTCTCGGGAGGCGGAGCTCCTCGGCAGTTTGAGTGCCTCAGTTTACCCTGAGTCCCTCTAGGTTTGCGTTATCGACGTGGTGGTAGTAGCGGAGTCTCATCGGGAGCTTGGGGAAACTGAAGCAGGAAGCGAGCCCAGAGCCCCGGTCGCGGTGGGGAGTGTGGCCGGGCTTGCTGCCCCCAGGACCGGCCTGACCTCTCATCCCCTCGCCTCCCCTCCCAGCCCCTGCCCCTGGAGCCAGGCCCTTCCTGCGAGCACCCGGCGGCTCAGGACCCAGCTCCCCGCCCCGCCCCCCACGTGCCCCGCATATTTTCCACGCGGCTGCGGCCAGGCTGGTCACCGCGCGTTCCCCGCCCCCGCTCCCACCCGGACGCGTCCCGAGCCCCTCCGCTCCCCGCCCCTGGCTCCGCCTGGCCCCACTCCCCTCCGCGCGCCTTCCCTCTTCTCCCCCGCTCCCCGCGGACGCTCCTCTCTTTCCCAGTGGGCCAACTTTATGCTGAAATTTCTTTTCTGCCCTTTTTTGGGATGTTTCCCCATTGGGAGGCGGAGCCGGGCTGCGGCGGGGAAGGCGGAGGGCGAGGGGAAGAGTCACTGAGCTGCGGGGCATAGGGGGTCCGGGGCGAGGTGCCTTCTCCCACCCAGGCCGCCAAACCAGCGCCGGAGCCGGGTCGTGGGGTCTGGGAGTCGGAGGCGCGAGGCGCGAGGGTGTTTGTTTTCGTTTTTCCCTGGGGTGGGGTGGGGGGAAAGGAAGTGGAGAGCCGCCGGGAGGAGGGGGAAGGGGAGGAGAGAACAAGCGGAGGAAGCCGGGAGGGAGCTGCTAGCCTCGCCCCCACCCTCCAGTCATAGAGGGGCGGGAGGCCTGGATTTTGCAGTGGGCTGGGGACCGTGGGAACCCGAGGCCGCTGGCCGGGGCGGTGGGGAGGTGG
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TGAATTGGGATGTGTAGGGCGGGGGCTTGGGAATCTTCTCTTTTTTTTTTAAAGCCCCCGAGTGATTCTGATGATAAGCCAAGTTTGGGAAATTGTAAAATAACATGCAGAAAGCACTGAGTACATTGCCTGCACAGGGTCCACATTCCATAAATATTAGGTTATCCCCTTTCTCTGTCAAAAACAAGGACACAGAGACCCTGAGATTTCAGAGTGGAAAGGAGAGAGGACCTGTGTAGGGAAAGGAGGTGGGGGGAGGGGCTGGGGGCAGCACTTGGACACAGCATAGGAAGCAGGTCCTTGGTCGGACTGTAGGGCAGGAGAAACAGCACCATATATAGAGAGTAGATGGTAGCTTGTCTTCCAGGTGCTGAAGGCACCTGGAGCTTGGCCACCTAGAGTGACAAGAGCCCATCATGGGCACAGGGCCGGATGACAGTGTGGAAGCATTCTGGGGACAGCATTGGGGGTTGGGAAGAATCACTGTGGGGGACATTGGAGTACTACCCTAGAGAGAGGTGAGACTGTAAAAGAAAAACTCTGCATGATGGTGGGGTGACAAAAGACTCTGGAAAGTTTGGGAAGTCCTGGGGTCCTCATCATGGGACTGATATGTGCCATTTCCTGCCTCTCAAGCTCTTCCCAGTTACGGGGGCGGCTCTCTAACCACAGGACAGGCACTACTGTCCCCATTAGAAAAATGGGAAGCAAGAGAGAGGGAGAAACTGAGGCACCATGTAAGTTGAGTGCTGTGTTCAAGGTCACCAGGAAGCTTGGGCAGTCTTTCCTATCTGCTCCTGGTGCTGCGGCTCTGCCTCCCCAGCTCTGTCCCTGTCCCCCCTGCCCCTCCAGCCCCCACCAGCAACTTGGGTTTCCAATCTTGCCTCCAGCTGCACTGGGCCTTGGTTATTTATAGAGTGTCAGATGCCCAGGGTTGTCTGTGCTAGCAGCTGCAGGTCAGCTCCCTCCCAAGTGCCAGGACTGGTGGAGAACCAAAACTGGAGGCTGGAGGTCACAGAAGCCCAACCCCTGGGGGGCTGGGAACATGAGCAGTCGACACAAACAGCTATGTCATCTCTGATGTTCAGACCATGCTTTATGCTAATCTAACCATAGGTTCATCTTAAAACAATCCTGGGTGGAAGGAAGATGGGGAAACTGAGGCAGAGAATGGGGAAACTACCACCACACCAAAGCCATATGGCCATTCTCCTACCTTAAGCTGGGGGTTGGGAATGGCAGGAAGTGAAGTCTGGTTGGGGTTGTGGGGTGGGCAGAGAAATCTCAGGGTAAATGACCTGCCAAGGTAGCTGCTTTGGCATTTGTGGCCCTGTCCCTCTGCCCTGTGGCCTGGCATGGTCTCCAGGCTGACAGCTTAATGAGGGTAAATGAGGAGCCATTAGAACCTGAGCTGGGGCCCCAGGGCACAGCAGGGCTGCTGAAGCCAGAGGTCAAGGCCAGGGAATTTCTAATGGCCCCTTAGGGTTGTAACTCAAGTGGGGTCTCATCTCTGGATCCCTCTCCCTCCTCCTGCAGGCTAGTACCTCACATCCACATCCCCCCATCCCCAAACGGCTGCAGTCTCCTCTCCAATTTCAGCTGGAGGATTAATTGAGGTAGATGGTAAATTCTTATACCTTCCACCCCCACAATGACTCATTGCTTGATCACTGTACATTCTAAAAGCTGGAACCAAACAGAATTACAGGGCTAAGTCCTCTGGGGGAAGTGGTAGGTGGTTTTGATTTATCCACTGTCTTGGATTACTTGTGTAAGTTTACCCTAGCCCTGGTTACTGAGATGAAACCATTTCTCTCCTGGCGCTGGGGACATAAGGGGATAAGGTGCCCCAATCCTCTTATTCCCATACCCGGGGGGCCCCTTCCCAGAGCCCTAACTCCTCCCATTGTCCCCCAAGTCCACACTCACATCAGTGGCCTTCTTCTCGGCCTGCTCCAGTTTCTCCTGGGCCTCCTTCACGGATTCAGAATACTTTTCCACCTCATCCTCTGTCCCCTTCAGCTTCTTCTGGAGGGCCTGCTGCTCCTTCTCCAGCTGGGACAGAGGGGACTTGGTCAGCCAGGCTGGGAGGGGGCCCAGGCCCAGAATGGAGACGCGGTGTGTGTAGGGGCGCTACTAAGATTTGGAGGCTACTGGGATGGAAGCGGAATAACATAAAAGGGACAGTACAGTCAAGGGTACTGGTGGGACCCGTTGAGGGTACAGAGAAAACTTCAGGCCCCAAGGAGCAGGACCAACCGCGCTCTGCAAAGGCAGAGTGGAAACCAGGGGCCTGGGGCTTCCCCAGGCTATTGTAGGGGAGAGAAGCGGCTCTGGCGAAGGCCCTGAGGGTACTGCGAAGGCCCAGCCCCCACCCTGGGTGAGAGAGAGCCTTGGCGGGCAGGCCCGGGGCTGGGGGACCCATGGCAGCGGCCCACCCTTGCCCTAGGCGCGGGGAGAGCAGGCTGCACTGGGCCCGGCCCTAACCTGCTTGCAGCGGTCCTCAGCTTGCTTCTTGTCGGCTTCGGCCTGCTCGGCGCGGTCGATGGCGTTCTCCTTGTCCAGCTTCAGCATCTGCATCTTCTTCTTGATGGCGTCCATGGCTGCGGTGGGGGGTGGGCCGGCCGGCAGGCGGTGAGGACCGGACGGACTGGGCTGGGTGAGCGGACTGGGTGCACCGGTGGCAGGCGAGGAGGACGGAGCGGGACTGGGACGTCCCGGCCACGCGGGCGCCTAAAAGGCGGGGAGGGACCGGGCGGGGCCGGCAACCAGGACCCTCCCCCACCTCGGCCCAAACCTTGTAGGGGCAGAAGCACGGCCCGGCCGGGGGGTGCGGCCGCCCCCTTCGCCCACCCACTGGGGACCGCCTCCCTTGGGGTCCCGCCCCCATCCCCCTCTTCCCTGCCAGCCGTCGGAGGAAAAAGTGGCCGACGGTCGGCTGGAAAAACCCCGGCGATGCGAAGGGGAGGGGACCCTTGGGCTGGGGGCTCCGTGCTTCCTCTGAGTGACAGCCGGACCCAGTGGCAGCTGCGGCTGGGGCCCCTGGGGCTATTTCGGGGCGTGAGCTCACGGCAGCTGCCCGGGCGCAGGGACCGGCGTGCCCCCCCTCAGCTGCAGCAGCCGCTACCCTTAATTTAGAAGTTTCCTGCAAATCCCCCCGGATTAAATGTCTCTCGGGAGGCGGAGCTCCTCGGCAGTTTGAGTGCCTCAGTTTACCCTGAGTCCCTCTAGGTTTGCGTTATCGACGTGGTGGTAGTAGCGGAGTCTCATCGGGAGCTTGGGGAAACTGAAGCAGGAAGCGAGCCCAGAGCCCCGGTCGCGGTGGGGAGTGTGGCCGGGCTTGCTGCCCCCAGGACCGGCCTGACCTCTCATCCCCTCGCCTCCCCTCCCAGCCCCTGCCCCTGGAGCCAGGCCCTTCCTGCGAGCACCCGGCGGCTCAGGACCCAGCTCCCCGCCCCGCCCCCCACGTGCCCCGCATATTTTCCACGCGGCTGCGGCCAGGCTGGTCACCGCGCGTTCCCCGCCCCCGCTCCCACCCGGACGCGTCCCGAGCCCCTCCGCTCCCCGCCCCTGGCTCCGCCTGGCCCCACTCCCCTCCGCGCGCCTTCCCTCTTCTCCCCCGCTCCCCGCGGACGCTCCTCTCTTTCCCAGTGGGCCAACTTTATGCTGAAATTTCTTTTCTGCCCTTTTTTGGGATGTTTCCCCATTGGGAGGCGGAGCCGGGCTGCGGCGGGGAAGGCGGAGGGCGAGGGGAAGAGTCACTGAGCTGCGGGGCATAGGGGGTCCGGGGCGAGGTGCCTTCTCCCACCCAGGCCGCCAAACCAGCGCCGGAGCCGGGTCGTGGGGTCTGGGAGTCGGAGGCGCGAGGCGCGAGGGTGTTTGTTTTCGTTTTTCCCTGGGGTGGGGTGGGGGGAAAGGAAGTGGAGAGCCGCCGGGAGGAGGGGGAAGGGGAGGAGAGAACAAGCGGAGGAAGCCGGGAGGGAGCTGCTAGCCTCGCCCCCACCCTCCAGTCATAGAGGGGCGGGAGGCCTGGATTTTGCAGTGGGCTGGGGACCGTGGGAACCCGAGGCCGCTGGCCGGGGCGGTGGGGAGGTGG
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Task1_train_12817
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A mutation in NPR2 (natriuretic peptide receptor 2), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Tall stature-scoliosis-macrodactyly of the great toes syndrome
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CCCACCAAACCACTAGGTGTCGCCTTCATCTCAGGGAAACCATGCCCGTCCTCGCCCTATACACTCCCACCCCACTCCAGGGCTCCAGGAGCGCTCTTAGCTTGTGATTTCTGGAGAAATAGCTTGAAGGGGGGAGAGAAACCGTGGCTCTTAGCGCGGGCAGAGAATGGGCTTATGTGCATGTCCTTTATGACAGTTGGAGAAAAATCCCCAAGGTCCCATAGCAGTCCCTCTCAGCCACCATGAGATCATCCCTCACAAGCTGTTCTTGGGGTCAGATTGGCACTCCAGATATGAGGGCCCTAGGGAGAGCTTCCTAAGGGAAGCTGGGAGCAAGGTGGAACCCCAGGAGAGCGTGGATGGGCTTCCACTGCGGGGAGTGTCCCGCCGGTCCGTTACAGGCTTTCCCCAGGCGCCAGCCTGCGCTGTGCAGGAGACAAAAGAAAATCGAGGCCCTGACTGAGCAGATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGTAAGCCGCACTGCCGTCGGGAGGGCGCTATGGTTTGCTAGGTGAGGGGGCTGGTGAGGATACCACACGTCTGGGGATCCTCGACTGCTTCCTGGAGACTGGAACCACTGAGGGACTCAGGGAGTTCAGAGGGGAGACCCAAGAAGAACGGGCTGAGCGAGGGGGAGAGGACAAACCCTGGGGTCGCTGGCGTGTGTGAGATGGAAATGGAAGGAGGGGCGGCAGGGGGACCAGGGGCGTGGGGGAGACCAGGGTAGGCCCTGAGAGTGAGGGAGCGCCCGGGAACCCTGCTGGCCGGCGAGGCCTTGGTGCGGAGCCCCCAAGTGCTCACCGGGGTGGGTTTGGGACCTGGCGGTCCCGAGCGCCCGGGTGGGGGGTGGGGGAAGGCAGCCGGCGCCGGAGGGTGGGGCCGGGAGGGAGGAGGAGAGGCAGCGGGGGAGGGGCGGGGGCGGGCGGCCTGCCCGGGGGAGTCGCACTCGGCCGCCGGCGCAGCGAGCGGAGACGGGCCGGGCCGAGGCGACCTGACCCGGACGAGCGGCGCGCGCGGGGCCCAGGCGGGGGGCGGGAGGAAGCGCCGGGCAGCGCCGGCCGCCAGGGCCCAGGAGAAGCGGAGCAGAGAGGAGCGGGGACACGGGCGGGGCCGCCGTAGCTCCGGATGGGACCAGCGCCCGGGCCCGTTAGTCCAAGCAGGAGCTCCGGGAGAATCCTTCACAGGGAGATTTACCCCTGCCTTCCCCTGCCCTCCGGCCCAGGCCTCGCTTCGCTCCCCGCCTGCCCATGATCCCAGTCCTTCCGCGGCGCGGGCACCCTCCCACCTTACCCCCTTGGTCCTATGTGGCGCAGCGCCCTCCTGCCCTCCCGGCCCTTTCAGCTGTGAGGTTCCCCCAGGCCGTTTCTTTGTACCACCCGCCCCCCACCCCCACCCCATCCCAGTCCCAGATCCCCTTTTCCTTCTCAGCTTTAGATTTATCAGGCTTCTTCACCTCGCACTGTCCCCATCCTGGCCGCAGGCCCCCTCGGTCCCTCCCTCCCCCTGCCACCCCGTTCTCAGTCCTCAGTCCTTGCCCTAGGCTGGTAGCCCACTCCTTGCCCGCCCCCCGCCTTCCTCCCATCTCCCCCTCCTCTCCCCGGCCCCCAGCACCTTCTGCATCCCAGCCTACCTAGCCTACTCCTCCTCTTCCTGGCCCTCTTCCCCAGGCTCCAGGCTGGGGGGTGCTCGCGTCTCCCCTGTAGGCCAGAGCAGCCCCAAGTTCTGGGGGCGGTGGGGCTGCTGCTTTATCCCCATGGCGCTGCCATCACTTCTGCTGTTGGTGGCAGCCCTGGCAGGTGGGGTGCGTCCTCCCGGGGCGCGGAACCTGACGCTGGCGGTGGTGCTGCCAGAACACAACCTGAGCTATGCCTGGGCCTGGCCACGGGTGGGACCCGCTGTGGCACTAGCTGTGGAGGCTCTGGGCCGGGCACTGCCCGTGGACCTGCGGTTTGTCAGCTCCGAACTGGAAGGCGCCTGCTCTGAGTACCTGGCACCGCTGAGCGCTGTGGACCTCAAGCTGTACCATGACCCCGACCTGCTGTTAGGTCCCGGTTGCGTGTACCCTGCTGCCTCTGTGGCCCGCTTTGCCTCCCACTGGCGCCTTCCCCTGCTGACTGCGGGTGCTGTGGCCTCTGGTTTTTCGGCTAAGAATGACCATTATCGTACCCTGGTTCGCACTGGCCCCTCTGCTCCCAAGCTGGGTGAGTTTGTGGTGACACTACACGGGCACTTCAATTGGACTGCCCGTGCTGCCTTGCTGTACCTGGATGCTCGCACAGATGACCGGCCTCACTACTTCACCATCGAGGGCGTCTTTGAGGCCCTGCAGGGCAGCAACCTCAGTGTGCAGCACCAGGTGTATGCCCGAGAGCCAGGGGGCCCCGAGCAGGCCACCCACTTCATCCGGGCCAACGGGCGCAGTGAGTGTGGCCTGGGCTATTTTAGGGTCATGGGAGGAGGGTCGCTGTGTCCCTAAAGCTCAGCACTGGGGAACTGTAGATGGAGATAGGCATTGAGCAGCTGTATGTGGTGGTTGGGATCAAGAAGCACACGTGGACAGAGCACCTGTGAGAGGGCCAAGGCTTCATCATGGGAGCTTGTGAACACCCTAGGCAGATGCAAACAAGGAAGAAGAGAGCATGAGGGGTGAAGCCTTGTATCAAGGTGGAATGTGAAAATGAGGGGATATTAAGTTTCGGGAGCAATGTTTGTGCCCTAGAGTAGTGAATGTGATTGATAGCCACTCTGAAATGTGCCCTGTCTGTGATCAGAGCTACCACCCAGACTGGGCGCCAAGACCCCTTGGTGGTGTAAAAATAATGAGGGCTCCATGAACGGACTCAGGGCTCAGCAGATTTGGGAAAGACAGATAAAGCTCATACTGAGAAATCTGTGCTGTCTGTGCCTTTGAGCCCAGGGAAGGGCAGGGAAGAGTCAGGGAGCAGGCCGGTTGGGTGGGGAGCAGCAAGGGAGGCTCTGGGAAAGGGAGGGGCTTGAGAGTGACAGCTCCCTTCCTCTGGGGTCTGGACAGGCTCTGACTTCTGCCAGATGGTCCATATGGCCCCAGGGTACTTATGGTGGACTCCAAGAGGGGTGGGCTGGGGAGCATCTGCTTTGGGGTTGATAGGTTAGGGCACTCTCTTTCTTGCTGAAGAGGGACATCCCAGTGATTCAGAGAGGGGGCTGTGTGGGGGACCTGGATACCTTCTCAGGGTGCTCCTCTGTCATGTACCTGCTCCCAGTTGTGTATATCTGCGGCCCTCTGGAGATGCTGCATGAGATCCTGCTTCAGGCCCAGAGGGAGAATCTGACCAATGGGGATTATGTCTTCTTTTACCTGGATGTCTTTGGGGAGAGTCTCCGTGCAGGCCCCACACGTGCTACAGGCCGGCCCTGGCAGGACAATCGCACCCGGGAACAGGCCCAGGCCCTCAGAGAGGCCTTTCAGGTATCATTTGAGCCAAATCTGAAGGAGGAGGGGGAAGAGGTGCTTCGCTGGAAATTCTCTCTCACAAGACCCTAAAGAAACCCTAGGAACCAGGCAGGAATTGTGAGCCACAGGAGTAAAATGAACAGAGGCATTCTGAGTCTAGTGTCACCCTTTCTTACTTCTCTACTTTTGTGACTCTTAGTGTGCTTGCTGCCAAGACTGACTTTGGCTGCCTCCAAAATCCTAAAACACTGACTTTCCTAAGTGCCAGTAGTAGGCTATATTGTGGGGGAGAAAAGTTCAGGAAGAGATCTGATCCTAGCCCTTGGGTGGGCTTCCACCCTTTATGGAGAGGTGAGGCATCGTTCTGGTACAGTCAGACAAAGTTTGAGAAAGGATATGATTATGTGTCCTGGAACAGACACTAAGAACTTTAGTGGCTCAGAGGAGGAAGAGTCAGTGTG
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CCCACCAAACCACTAGGTGTCGCCTTCATCTCAGGGAAACCATGCCCGTCCTCGCCCTATACACTCCCACCCCACTCCAGGGCTCCAGGAGCGCTCTTAGCTTGTGATTTCTGGAGAAATAGCTTGAAGGGGGGAGAGAAACCGTGGCTCTTAGCGCGGGCAGAGAATGGGCTTATGTGCATGTCCTTTATGACAGTTGGAGAAAAATCCCCAAGGTCCCATAGCAGTCCCTCTCAGCCACCATGAGATCATCCCTCACAAGCTGTTCTTGGGGTCAGATTGGCACTCCAGATATGAGGGCCCTAGGGAGAGCTTCCTAAGGGAAGCTGGGAGCAAGGTGGAACCCCAGGAGAGCGTGGATGGGCTTCCACTGCGGGGAGTGTCCCGCCGGTCCGTTACAGGCTTTCCCCAGGCGCCAGCCTGCGCTGTGCAGGAGACAAAAGAAAATCGAGGCCCTGACTGAGCAGATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGTAAGCCGCACTGCCGTCGGGAGGGCGCTATGGTTTGCTAGGTGAGGGGGCTGGTGAGGATACCACACGTCTGGGGATCCTCGACTGCTTCCTGGAGACTGGAACCACTGAGGGACTCAGGGAGTTCAGAGGGGAGACCCAAGAAGAACGGGCTGAGCGAGGGGGAGAGGACAAACCCTGGGGTCGCTGGCGTGTGTGAGATGGAAATGGAAGGAGGGGCGGCAGGGGGACCAGGGGCGTGGGGGAGACCAGGGTAGGCCCTGAGAGTGAGGGAGCGCCCGGGAACCCTGCTGGCCGGCGAGGCCTTGGTGCGGAGCCCCCAAGTGCTCACCGGGGTGGGTTTGGGACCTGGCGGTCCCGAGCGCCCGGGTGGGGGGTGGGGGAAGGCAGCCGGCGCCGGAGGGTGGGGCCGGGAGGGAGGAGGAGAGGCAGCGGGGGAGGGGCGGGGGCGGGCGGCCTGCCCGGGGGAGTCGCACTCGGCCGCCGGCGCAGCGAGCGGAGACGGGCCGGGCCGAGGCGACCTGACCCGGACGAGCGGCGCGCGCGGGGCCCAGGCGGGGGGCGGGAGGAAGCGCCGGGCAGCGCCGGCCGCCAGGGCCCAGGAGAAGCGGAGCAGAGAGGAGCGGGGACACGGGCGGGGCCGCCGTAGCTCCGGATGGGACCAGCGCCCGGGCCCGTTAGTCCAAGCAGGAGCTCCGGGAGAATCCTTCACAGGGAGATTTACCCCTGCCTTCCCCTGCCCTCCGGCCCAGGCCTCGCTTCGCTCCCCGCCTGCCCATGATCCCAGTCCTTCCGCGGCGCGGGCACCCTCCCACCTTACCCCCTTGGTCCTATGTGGCGCAGCGCCCTCCTGCCCTCCCGGCCCTTTCAGCTGTGAGGTTCCCCCAGGCCGTTTCTTTGTACCACCCGCCCCCCACCCCCACCCCATCCCAGTCCCAGATCCCCTTTTCCTTCTCAGCTTTAGATTTATCAGGCTTCTTCACCTCGCACTGTCCCCATCCTGGCCGCAGGCCCCCTCGGTCCCTCCCTCCCCCTGCCACCCCGTTCTCAGTCCTCAGTCCTTGCCCTAGGCTGGTAGCCCACTCCTTGCCCGCCCCCCGCCTTCCTCCCATCTCCCCCTCCTCTCCCCGGCCCCCAGCACCTTCTGCATCCCAGCCTACCTAGCCTACTCCTCCTCTTCCTGGCCCTCTTCCCCAGGCTCCAGGCTGGGGGGTGCTCGCGTCTCCCCTGTAGGCCAGAGCAGCCCCAAGTTCTGGGGGCGGTGGGGCTGCTGCTTTATCCCCATGGCGCTGCCATCACTTCTGCTGTTGGTGGCAGCCCTGGCAGGTGGGGTGCGTCCTCCCGGGGCGCGGAACCTGACGCTGGCGGTGGTGCTGACAGAACACAACCTGAGCTATGCCTGGGCCTGGCCACGGGTGGGACCCGCTGTGGCACTAGCTGTGGAGGCTCTGGGCCGGGCACTGCCCGTGGACCTGCGGTTTGTCAGCTCCGAACTGGAAGGCGCCTGCTCTGAGTACCTGGCACCGCTGAGCGCTGTGGACCTCAAGCTGTACCATGACCCCGACCTGCTGTTAGGTCCCGGTTGCGTGTACCCTGCTGCCTCTGTGGCCCGCTTTGCCTCCCACTGGCGCCTTCCCCTGCTGACTGCGGGTGCTGTGGCCTCTGGTTTTTCGGCTAAGAATGACCATTATCGTACCCTGGTTCGCACTGGCCCCTCTGCTCCCAAGCTGGGTGAGTTTGTGGTGACACTACACGGGCACTTCAATTGGACTGCCCGTGCTGCCTTGCTGTACCTGGATGCTCGCACAGATGACCGGCCTCACTACTTCACCATCGAGGGCGTCTTTGAGGCCCTGCAGGGCAGCAACCTCAGTGTGCAGCACCAGGTGTATGCCCGAGAGCCAGGGGGCCCCGAGCAGGCCACCCACTTCATCCGGGCCAACGGGCGCAGTGAGTGTGGCCTGGGCTATTTTAGGGTCATGGGAGGAGGGTCGCTGTGTCCCTAAAGCTCAGCACTGGGGAACTGTAGATGGAGATAGGCATTGAGCAGCTGTATGTGGTGGTTGGGATCAAGAAGCACACGTGGACAGAGCACCTGTGAGAGGGCCAAGGCTTCATCATGGGAGCTTGTGAACACCCTAGGCAGATGCAAACAAGGAAGAAGAGAGCATGAGGGGTGAAGCCTTGTATCAAGGTGGAATGTGAAAATGAGGGGATATTAAGTTTCGGGAGCAATGTTTGTGCCCTAGAGTAGTGAATGTGATTGATAGCCACTCTGAAATGTGCCCTGTCTGTGATCAGAGCTACCACCCAGACTGGGCGCCAAGACCCCTTGGTGGTGTAAAAATAATGAGGGCTCCATGAACGGACTCAGGGCTCAGCAGATTTGGGAAAGACAGATAAAGCTCATACTGAGAAATCTGTGCTGTCTGTGCCTTTGAGCCCAGGGAAGGGCAGGGAAGAGTCAGGGAGCAGGCCGGTTGGGTGGGGAGCAGCAAGGGAGGCTCTGGGAAAGGGAGGGGCTTGAGAGTGACAGCTCCCTTCCTCTGGGGTCTGGACAGGCTCTGACTTCTGCCAGATGGTCCATATGGCCCCAGGGTACTTATGGTGGACTCCAAGAGGGGTGGGCTGGGGAGCATCTGCTTTGGGGTTGATAGGTTAGGGCACTCTCTTTCTTGCTGAAGAGGGACATCCCAGTGATTCAGAGAGGGGGCTGTGTGGGGGACCTGGATACCTTCTCAGGGTGCTCCTCTGTCATGTACCTGCTCCCAGTTGTGTATATCTGCGGCCCTCTGGAGATGCTGCATGAGATCCTGCTTCAGGCCCAGAGGGAGAATCTGACCAATGGGGATTATGTCTTCTTTTACCTGGATGTCTTTGGGGAGAGTCTCCGTGCAGGCCCCACACGTGCTACAGGCCGGCCCTGGCAGGACAATCGCACCCGGGAACAGGCCCAGGCCCTCAGAGAGGCCTTTCAGGTATCATTTGAGCCAAATCTGAAGGAGGAGGGGGAAGAGGTGCTTCGCTGGAAATTCTCTCTCACAAGACCCTAAAGAAACCCTAGGAACCAGGCAGGAATTGTGAGCCACAGGAGTAAAATGAACAGAGGCATTCTGAGTCTAGTGTCACCCTTTCTTACTTCTCTACTTTTGTGACTCTTAGTGTGCTTGCTGCCAAGACTGACTTTGGCTGCCTCCAAAATCCTAAAACACTGACTTTCCTAAGTGCCAGTAGTAGGCTATATTGTGGGGGAGAAAAGTTCAGGAAGAGATCTGATCCTAGCCCTTGGGTGGGCTTCCACCCTTTATGGAGAGGTGAGGCATCGTTCTGGTACAGTCAGACAAAGTTTGAGAAAGGATATGATTATGTGTCCTGGAACAGACACTAAGAACTTTAGTGGCTCAGAGGAGGAAGAGTCAGTGTG
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Task1_train_12818
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Gene NPR2 (natriuretic peptide receptor 2) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Acromesomelic dysplasia 1, Maroteaux type
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CCCACCAAACCACTAGGTGTCGCCTTCATCTCAGGGAAACCATGCCCGTCCTCGCCCTATACACTCCCACCCCACTCCAGGGCTCCAGGAGCGCTCTTAGCTTGTGATTTCTGGAGAAATAGCTTGAAGGGGGGAGAGAAACCGTGGCTCTTAGCGCGGGCAGAGAATGGGCTTATGTGCATGTCCTTTATGACAGTTGGAGAAAAATCCCCAAGGTCCCATAGCAGTCCCTCTCAGCCACCATGAGATCATCCCTCACAAGCTGTTCTTGGGGTCAGATTGGCACTCCAGATATGAGGGCCCTAGGGAGAGCTTCCTAAGGGAAGCTGGGAGCAAGGTGGAACCCCAGGAGAGCGTGGATGGGCTTCCACTGCGGGGAGTGTCCCGCCGGTCCGTTACAGGCTTTCCCCAGGCGCCAGCCTGCGCTGTGCAGGAGACAAAAGAAAATCGAGGCCCTGACTGAGCAGATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGTAAGCCGCACTGCCGTCGGGAGGGCGCTATGGTTTGCTAGGTGAGGGGGCTGGTGAGGATACCACACGTCTGGGGATCCTCGACTGCTTCCTGGAGACTGGAACCACTGAGGGACTCAGGGAGTTCAGAGGGGAGACCCAAGAAGAACGGGCTGAGCGAGGGGGAGAGGACAAACCCTGGGGTCGCTGGCGTGTGTGAGATGGAAATGGAAGGAGGGGCGGCAGGGGGACCAGGGGCGTGGGGGAGACCAGGGTAGGCCCTGAGAGTGAGGGAGCGCCCGGGAACCCTGCTGGCCGGCGAGGCCTTGGTGCGGAGCCCCCAAGTGCTCACCGGGGTGGGTTTGGGACCTGGCGGTCCCGAGCGCCCGGGTGGGGGGTGGGGGAAGGCAGCCGGCGCCGGAGGGTGGGGCCGGGAGGGAGGAGGAGAGGCAGCGGGGGAGGGGCGGGGGCGGGCGGCCTGCCCGGGGGAGTCGCACTCGGCCGCCGGCGCAGCGAGCGGAGACGGGCCGGGCCGAGGCGACCTGACCCGGACGAGCGGCGCGCGCGGGGCCCAGGCGGGGGGCGGGAGGAAGCGCCGGGCAGCGCCGGCCGCCAGGGCCCAGGAGAAGCGGAGCAGAGAGGAGCGGGGACACGGGCGGGGCCGCCGTAGCTCCGGATGGGACCAGCGCCCGGGCCCGTTAGTCCAAGCAGGAGCTCCGGGAGAATCCTTCACAGGGAGATTTACCCCTGCCTTCCCCTGCCCTCCGGCCCAGGCCTCGCTTCGCTCCCCGCCTGCCCATGATCCCAGTCCTTCCGCGGCGCGGGCACCCTCCCACCTTACCCCCTTGGTCCTATGTGGCGCAGCGCCCTCCTGCCCTCCCGGCCCTTTCAGCTGTGAGGTTCCCCCAGGCCGTTTCTTTGTACCACCCGCCCCCCACCCCCACCCCATCCCAGTCCCAGATCCCCTTTTCCTTCTCAGCTTTAGATTTATCAGGCTTCTTCACCTCGCACTGTCCCCATCCTGGCCGCAGGCCCCCTCGGTCCCTCCCTCCCCCTGCCACCCCGTTCTCAGTCCTCAGTCCTTGCCCTAGGCTGGTAGCCCACTCCTTGCCCGCCCCCCGCCTTCCTCCCATCTCCCCCTCCTCTCCCCGGCCCCCAGCACCTTCTGCATCCCAGCCTACCTAGCCTACTCCTCCTCTTCCTGGCCCTCTTCCCCAGGCTCCAGGCTGGGGGGTGCTCGCGTCTCCCCTGTAGGCCAGAGCAGCCCCAAGTTCTGGGGGCGGTGGGGCTGCTGCTTTATCCCCATGGCGCTGCCATCACTTCTGCTGTTGGTGGCAGCCCTGGCAGGTGGGGTGCGTCCTCCCGGGGCGCGGAACCTGACGCTGGCGGTGGTGCTGCCAGAACACAACCTGAGCTATGCCTGGGCCTGGCCACGGGTGGGACCCGCTGTGGCACTAGCTGTGGAGGCTCTGGGCCGGGCACTGCCCGTGGACCTGCGGTTTGTCAGCTCCGAACTGGAAGGCGCCTGCTCTGAGTACCTGGCACCGCTGAGCGCTGTGGACCTCAAGCTGTACCATGACCCCGACCTGCTGTTAGGTCCCGGTTGCGTGTACCCTGCTGCCTCTGTGGCCCGCTTTGCCTCCCACTGGCGCCTTCCCCTGCTGACTGCGGGTGCTGTGGCCTCTGGTTTTTCGGCTAAGAATGACCATTATCGTACCCTGGTTCGCACTGGCCCCTCTGCTCCCAAGCTGGGTGAGTTTGTGGTGACACTACACGGGCACTTCAATTGGACTGCCCGTGCTGCCTTGCTGTACCTGGATGCTCGCACAGATGACCGGCCTCACTACTTCACCATCGAGGGCGTCTTTGAGGCCCTGCAGGGCAGCAACCTCAGTGTGCAGCACCAGGTGTATGCCCGAGAGCCAGGGGGCCCCGAGCAGGCCACCCACTTCATCCGGGCCAACGGGCGCAGTGAGTGTGGCCTGGGCTATTTTAGGGTCATGGGAGGAGGGTCGCTGTGTCCCTAAAGCTCAGCACTGGGGAACTGTAGATGGAGATAGGCATTGAGCAGCTGTATGTGGTGGTTGGGATCAAGAAGCACACGTGGACAGAGCACCTGTGAGAGGGCCAAGGCTTCATCATGGGAGCTTGTGAACACCCTAGGCAGATGCAAACAAGGAAGAAGAGAGCATGAGGGGTGAAGCCTTGTATCAAGGTGGAATGTGAAAATGAGGGGATATTAAGTTTCGGGAGCAATGTTTGTGCCCTAGAGTAGTGAATGTGATTGATAGCCACTCTGAAATGTGCCCTGTCTGTGATCAGAGCTACCACCCAGACTGGGCGCCAAGACCCCTTGGTGGTGTAAAAATAATGAGGGCTCCATGAACGGACTCAGGGCTCAGCAGATTTGGGAAAGACAGATAAAGCTCATACTGAGAAATCTGTGCTGTCTGTGCCTTTGAGCCCAGGGAAGGGCAGGGAAGAGTCAGGGAGCAGGCCGGTTGGGTGGGGAGCAGCAAGGGAGGCTCTGGGAAAGGGAGGGGCTTGAGAGTGACAGCTCCCTTCCTCTGGGGTCTGGACAGGCTCTGACTTCTGCCAGATGGTCCATATGGCCCCAGGGTACTTATGGTGGACTCCAAGAGGGGTGGGCTGGGGAGCATCTGCTTTGGGGTTGATAGGTTAGGGCACTCTCTTTCTTGCTGAAGAGGGACATCCCAGTGATTCAGAGAGGGGGCTGTGTGGGGGACCTGGATACCTTCTCAGGGTGCTCCTCTGTCATGTACCTGCTCCCAGTTGTGTATATCTGCGGCCCTCTGGAGATGCTGCATGAGATCCTGCTTCAGGCCCAGAGGGAGAATCTGACCAATGGGGATTATGTCTTCTTTTACCTGGATGTCTTTGGGGAGAGTCTCCGTGCAGGCCCCACACGTGCTACAGGCCGGCCCTGGCAGGACAATCGCACCCGGGAACAGGCCCAGGCCCTCAGAGAGGCCTTTCAGGTATCATTTGAGCCAAATCTGAAGGAGGAGGGGGAAGAGGTGCTTCGCTGGAAATTCTCTCTCACAAGACCCTAAAGAAACCCTAGGAACCAGGCAGGAATTGTGAGCCACAGGAGTAAAATGAACAGAGGCATTCTGAGTCTAGTGTCACCCTTTCTTACTTCTCTACTTTTGTGACTCTTAGTGTGCTTGCTGCCAAGACTGACTTTGGCTGCCTCCAAAATCCTAAAACACTGACTTTCCTAAGTGCCAGTAGTAGGCTATATTGTGGGGGAGAAAAGTTCAGGAAGAGATCTGATCCTAGCCCTTGGGTGGGCTTCCACCCTTTATGGAGAGGTGAGGCATCGTTCTGGTACAGTCAGACAAAGTTTGAGAAAGGATATGATTATGTGTCCTGGAACAGACACTAAGAACTTTAGTGGCTCAGAGGAGGAAGAGTCAGTGTG
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CCCACCAAACCACTAGGTGTCGCCTTCATCTCAGGGAAACCATGCCCGTCCTCGCCCTATACACTCCCACCCCACTCCAGGGCTCCAGGAGCGCTCTTAGCTTGTGATTTCTGGAGAAATAGCTTGAAGGGGGGAGAGAAACCGTGGCTCTTAGCGCGGGCAGAGAATGGGCTTATGTGCATGTCCTTTATGACAGTTGGAGAAAAATCCCCAAGGTCCCATAGCAGTCCCTCTCAGCCACCATGAGATCATCCCTCACAAGCTGTTCTTGGGGTCAGATTGGCACTCCAGATATGAGGGCCCTAGGGAGAGCTTCCTAAGGGAAGCTGGGAGCAAGGTGGAACCCCAGGAGAGCGTGGATGGGCTTCCACTGCGGGGAGTGTCCCGCCGGTCCGTTACAGGCTTTCCCCAGGCGCCAGCCTGCGCTGTGCAGGAGACAAAAGAAAATCGAGGCCCTGACTGAGCAGATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGTAAGCCGCACTGCCGTCGGGAGGGCGCTATGGTTTGCTAGGTGAGGGGGCTGGTGAGGATACCACACGTCTGGGGATCCTCGACTGCTTCCTGGAGACTGGAACCACTGAGGGACTCAGGGAGTTCAGAGGGGAGACCCAAGAAGAACGGGCTGAGCGAGGGGGAGAGGACAAACCCTGGGGTCGCTGGCGTGTGTGAGATGGAAATGGAAGGAGGGGCGGCAGGGGGACCAGGGGCGTGGGGGAGACCAGGGTAGGCCCTGAGAGTGAGGGAGCGCCCGGGAACCCTGCTGGCCGGCGAGGCCTTGGTGCGGAGCCCCCAAGTGCTCACCGGGGTGGGTTTGGGACCTGGCGGTCCCGAGCGCCCGGGTGGGGGGTGGGGGAAGGCAGCCGGCGCCGGAGGGTGGGGCCGGGAGGGAGGAGGAGAGGCAGCGGGGGAGGGGCGGGGGCGGGCGGCCTGCCCGGGGGAGTCGCACTCGGCCGCCGGCGCAGCGAGCGGAGACGGGCCGGGCCGAGGCGACCTGACCCGGACGAGCGGCGCGCGCGGGGCCCAGGCGGGGGGCGGGAGGAAGCGCCGGGCAGCGCCGGCCGCCAGGGCCCAGGAGAAGCGGAGCAGAGAGGAGCGGGGACACGGGCGGGGCCGCCGTAGCTCCGGATGGGACCAGCGCCCGGGCCCGTTAGTCCAAGCAGGAGCTCCGGGAGAATCCTTCACAGGGAGATTTACCCCTGCCTTCCCCTGCCCTCCGGCCCAGGCCTCGCTTCGCTCCCCGCCTGCCCATGATCCCAGTCCTTCCGCGGCGCGGGCACCCTCCCACCTTACCCCCTTGGTCCTATGTGGCGCAGCGCCCTCCTGCCCTCCCGGCCCTTTCAGCTGTGAGGTTCCCCCAGGCCGTTTCTTTGTACCACCCGCCCCCCACCCCCACCCCATCCCAGTCCCAGATCCCCTTTTCCTTCTCAGCTTTAGATTTATCAGGCTTCTTCACCTCGCACTGTCCCCATCCTGGCCGCAGGCCCCCTCGGTCCCTCCCTCCCCCTGCCACCCCGTTCTCAGTCCTCAGTCCTTGCCCTAGGCTGGTAGCCCACTCCTTGCCCGCCCCCCGCCTTCCTCCCATCTCCCCCTCCTCTCCCCGGCCCCCAGCACCTTCTGCATCCCAGCCTACCTAGCCTACTCCTCCTCTTCCTGGCCCTCTTCCCCAGGCTCCAGGCTGGGGGGTGCTCGCGTCTCCCCTGTAGGCCAGAGCAGCCCCAAGTTCTGGGGGCGGTGGGGCTGCTGCTTTATCCCCATGGCGCTGCCATCACTTCTGCTGTTGGTGGCAGCCCTGGCAGGTGGGGTGCGTCCTCCCGGGGCGCGGAACCTGACGCTGGCGGTGGTGCTGACAGAACACAACCTGAGCTATGCCTGGGCCTGGCCACGGGTGGGACCCGCTGTGGCACTAGCTGTGGAGGCTCTGGGCCGGGCACTGCCCGTGGACCTGCGGTTTGTCAGCTCCGAACTGGAAGGCGCCTGCTCTGAGTACCTGGCACCGCTGAGCGCTGTGGACCTCAAGCTGTACCATGACCCCGACCTGCTGTTAGGTCCCGGTTGCGTGTACCCTGCTGCCTCTGTGGCCCGCTTTGCCTCCCACTGGCGCCTTCCCCTGCTGACTGCGGGTGCTGTGGCCTCTGGTTTTTCGGCTAAGAATGACCATTATCGTACCCTGGTTCGCACTGGCCCCTCTGCTCCCAAGCTGGGTGAGTTTGTGGTGACACTACACGGGCACTTCAATTGGACTGCCCGTGCTGCCTTGCTGTACCTGGATGCTCGCACAGATGACCGGCCTCACTACTTCACCATCGAGGGCGTCTTTGAGGCCCTGCAGGGCAGCAACCTCAGTGTGCAGCACCAGGTGTATGCCCGAGAGCCAGGGGGCCCCGAGCAGGCCACCCACTTCATCCGGGCCAACGGGCGCAGTGAGTGTGGCCTGGGCTATTTTAGGGTCATGGGAGGAGGGTCGCTGTGTCCCTAAAGCTCAGCACTGGGGAACTGTAGATGGAGATAGGCATTGAGCAGCTGTATGTGGTGGTTGGGATCAAGAAGCACACGTGGACAGAGCACCTGTGAGAGGGCCAAGGCTTCATCATGGGAGCTTGTGAACACCCTAGGCAGATGCAAACAAGGAAGAAGAGAGCATGAGGGGTGAAGCCTTGTATCAAGGTGGAATGTGAAAATGAGGGGATATTAAGTTTCGGGAGCAATGTTTGTGCCCTAGAGTAGTGAATGTGATTGATAGCCACTCTGAAATGTGCCCTGTCTGTGATCAGAGCTACCACCCAGACTGGGCGCCAAGACCCCTTGGTGGTGTAAAAATAATGAGGGCTCCATGAACGGACTCAGGGCTCAGCAGATTTGGGAAAGACAGATAAAGCTCATACTGAGAAATCTGTGCTGTCTGTGCCTTTGAGCCCAGGGAAGGGCAGGGAAGAGTCAGGGAGCAGGCCGGTTGGGTGGGGAGCAGCAAGGGAGGCTCTGGGAAAGGGAGGGGCTTGAGAGTGACAGCTCCCTTCCTCTGGGGTCTGGACAGGCTCTGACTTCTGCCAGATGGTCCATATGGCCCCAGGGTACTTATGGTGGACTCCAAGAGGGGTGGGCTGGGGAGCATCTGCTTTGGGGTTGATAGGTTAGGGCACTCTCTTTCTTGCTGAAGAGGGACATCCCAGTGATTCAGAGAGGGGGCTGTGTGGGGGACCTGGATACCTTCTCAGGGTGCTCCTCTGTCATGTACCTGCTCCCAGTTGTGTATATCTGCGGCCCTCTGGAGATGCTGCATGAGATCCTGCTTCAGGCCCAGAGGGAGAATCTGACCAATGGGGATTATGTCTTCTTTTACCTGGATGTCTTTGGGGAGAGTCTCCGTGCAGGCCCCACACGTGCTACAGGCCGGCCCTGGCAGGACAATCGCACCCGGGAACAGGCCCAGGCCCTCAGAGAGGCCTTTCAGGTATCATTTGAGCCAAATCTGAAGGAGGAGGGGGAAGAGGTGCTTCGCTGGAAATTCTCTCTCACAAGACCCTAAAGAAACCCTAGGAACCAGGCAGGAATTGTGAGCCACAGGAGTAAAATGAACAGAGGCATTCTGAGTCTAGTGTCACCCTTTCTTACTTCTCTACTTTTGTGACTCTTAGTGTGCTTGCTGCCAAGACTGACTTTGGCTGCCTCCAAAATCCTAAAACACTGACTTTCCTAAGTGCCAGTAGTAGGCTATATTGTGGGGGAGAAAAGTTCAGGAAGAGATCTGATCCTAGCCCTTGGGTGGGCTTCCACCCTTTATGGAGAGGTGAGGCATCGTTCTGGTACAGTCAGACAAAGTTTGAGAAAGGATATGATTATGTGTCCTGGAACAGACACTAAGAACTTTAGTGGCTCAGAGGAGGAAGAGTCAGTGTG
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Task1_train_12819
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This mutation occurs in NPR2 (natriuretic peptide receptor 2) on Chromosome 9. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Short stature with nonspecific skeletal abnormalities
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GGAGAGAAACCGTGGCTCTTAGCGCGGGCAGAGAATGGGCTTATGTGCATGTCCTTTATGACAGTTGGAGAAAAATCCCCAAGGTCCCATAGCAGTCCCTCTCAGCCACCATGAGATCATCCCTCACAAGCTGTTCTTGGGGTCAGATTGGCACTCCAGATATGAGGGCCCTAGGGAGAGCTTCCTAAGGGAAGCTGGGAGCAAGGTGGAACCCCAGGAGAGCGTGGATGGGCTTCCACTGCGGGGAGTGTCCCGCCGGTCCGTTACAGGCTTTCCCCAGGCGCCAGCCTGCGCTGTGCAGGAGACAAAAGAAAATCGAGGCCCTGACTGAGCAGATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGTAAGCCGCACTGCCGTCGGGAGGGCGCTATGGTTTGCTAGGTGAGGGGGCTGGTGAGGATACCACACGTCTGGGGATCCTCGACTGCTTCCTGGAGACTGGAACCACTGAGGGACTCAGGGAGTTCAGAGGGGAGACCCAAGAAGAACGGGCTGAGCGAGGGGGAGAGGACAAACCCTGGGGTCGCTGGCGTGTGTGAGATGGAAATGGAAGGAGGGGCGGCAGGGGGACCAGGGGCGTGGGGGAGACCAGGGTAGGCCCTGAGAGTGAGGGAGCGCCCGGGAACCCTGCTGGCCGGCGAGGCCTTGGTGCGGAGCCCCCAAGTGCTCACCGGGGTGGGTTTGGGACCTGGCGGTCCCGAGCGCCCGGGTGGGGGGTGGGGGAAGGCAGCCGGCGCCGGAGGGTGGGGCCGGGAGGGAGGAGGAGAGGCAGCGGGGGAGGGGCGGGGGCGGGCGGCCTGCCCGGGGGAGTCGCACTCGGCCGCCGGCGCAGCGAGCGGAGACGGGCCGGGCCGAGGCGACCTGACCCGGACGAGCGGCGCGCGCGGGGCCCAGGCGGGGGGCGGGAGGAAGCGCCGGGCAGCGCCGGCCGCCAGGGCCCAGGAGAAGCGGAGCAGAGAGGAGCGGGGACACGGGCGGGGCCGCCGTAGCTCCGGATGGGACCAGCGCCCGGGCCCGTTAGTCCAAGCAGGAGCTCCGGGAGAATCCTTCACAGGGAGATTTACCCCTGCCTTCCCCTGCCCTCCGGCCCAGGCCTCGCTTCGCTCCCCGCCTGCCCATGATCCCAGTCCTTCCGCGGCGCGGGCACCCTCCCACCTTACCCCCTTGGTCCTATGTGGCGCAGCGCCCTCCTGCCCTCCCGGCCCTTTCAGCTGTGAGGTTCCCCCAGGCCGTTTCTTTGTACCACCCGCCCCCCACCCCCACCCCATCCCAGTCCCAGATCCCCTTTTCCTTCTCAGCTTTAGATTTATCAGGCTTCTTCACCTCGCACTGTCCCCATCCTGGCCGCAGGCCCCCTCGGTCCCTCCCTCCCCCTGCCACCCCGTTCTCAGTCCTCAGTCCTTGCCCTAGGCTGGTAGCCCACTCCTTGCCCGCCCCCCGCCTTCCTCCCATCTCCCCCTCCTCTCCCCGGCCCCCAGCACCTTCTGCATCCCAGCCTACCTAGCCTACTCCTCCTCTTCCTGGCCCTCTTCCCCAGGCTCCAGGCTGGGGGGTGCTCGCGTCTCCCCTGTAGGCCAGAGCAGCCCCAAGTTCTGGGGGCGGTGGGGCTGCTGCTTTATCCCCATGGCGCTGCCATCACTTCTGCTGTTGGTGGCAGCCCTGGCAGGTGGGGTGCGTCCTCCCGGGGCGCGGAACCTGACGCTGGCGGTGGTGCTGCCAGAACACAACCTGAGCTATGCCTGGGCCTGGCCACGGGTGGGACCCGCTGTGGCACTAGCTGTGGAGGCTCTGGGCCGGGCACTGCCCGTGGACCTGCGGTTTGTCAGCTCCGAACTGGAAGGCGCCTGCTCTGAGTACCTGGCACCGCTGAGCGCTGTGGACCTCAAGCTGTACCATGACCCCGACCTGCTGTTAGGTCCCGGTTGCGTGTACCCTGCTGCCTCTGTGGCCCGCTTTGCCTCCCACTGGCGCCTTCCCCTGCTGACTGCGGGTGCTGTGGCCTCTGGTTTTTCGGCTAAGAATGACCATTATCGTACCCTGGTTCGCACTGGCCCCTCTGCTCCCAAGCTGGGTGAGTTTGTGGTGACACTACACGGGCACTTCAATTGGACTGCCCGTGCTGCCTTGCTGTACCTGGATGCTCGCACAGATGACCGGCCTCACTACTTCACCATCGAGGGCGTCTTTGAGGCCCTGCAGGGCAGCAACCTCAGTGTGCAGCACCAGGTGTATGCCCGAGAGCCAGGGGGCCCCGAGCAGGCCACCCACTTCATCCGGGCCAACGGGCGCAGTGAGTGTGGCCTGGGCTATTTTAGGGTCATGGGAGGAGGGTCGCTGTGTCCCTAAAGCTCAGCACTGGGGAACTGTAGATGGAGATAGGCATTGAGCAGCTGTATGTGGTGGTTGGGATCAAGAAGCACACGTGGACAGAGCACCTGTGAGAGGGCCAAGGCTTCATCATGGGAGCTTGTGAACACCCTAGGCAGATGCAAACAAGGAAGAAGAGAGCATGAGGGGTGAAGCCTTGTATCAAGGTGGAATGTGAAAATGAGGGGATATTAAGTTTCGGGAGCAATGTTTGTGCCCTAGAGTAGTGAATGTGATTGATAGCCACTCTGAAATGTGCCCTGTCTGTGATCAGAGCTACCACCCAGACTGGGCGCCAAGACCCCTTGGTGGTGTAAAAATAATGAGGGCTCCATGAACGGACTCAGGGCTCAGCAGATTTGGGAAAGACAGATAAAGCTCATACTGAGAAATCTGTGCTGTCTGTGCCTTTGAGCCCAGGGAAGGGCAGGGAAGAGTCAGGGAGCAGGCCGGTTGGGTGGGGAGCAGCAAGGGAGGCTCTGGGAAAGGGAGGGGCTTGAGAGTGACAGCTCCCTTCCTCTGGGGTCTGGACAGGCTCTGACTTCTGCCAGATGGTCCATATGGCCCCAGGGTACTTATGGTGGACTCCAAGAGGGGTGGGCTGGGGAGCATCTGCTTTGGGGTTGATAGGTTAGGGCACTCTCTTTCTTGCTGAAGAGGGACATCCCAGTGATTCAGAGAGGGGGCTGTGTGGGGGACCTGGATACCTTCTCAGGGTGCTCCTCTGTCATGTACCTGCTCCCAGTTGTGTATATCTGCGGCCCTCTGGAGATGCTGCATGAGATCCTGCTTCAGGCCCAGAGGGAGAATCTGACCAATGGGGATTATGTCTTCTTTTACCTGGATGTCTTTGGGGAGAGTCTCCGTGCAGGCCCCACACGTGCTACAGGCCGGCCCTGGCAGGACAATCGCACCCGGGAACAGGCCCAGGCCCTCAGAGAGGCCTTTCAGGTATCATTTGAGCCAAATCTGAAGGAGGAGGGGGAAGAGGTGCTTCGCTGGAAATTCTCTCTCACAAGACCCTAAAGAAACCCTAGGAACCAGGCAGGAATTGTGAGCCACAGGAGTAAAATGAACAGAGGCATTCTGAGTCTAGTGTCACCCTTTCTTACTTCTCTACTTTTGTGACTCTTAGTGTGCTTGCTGCCAAGACTGACTTTGGCTGCCTCCAAAATCCTAAAACACTGACTTTCCTAAGTGCCAGTAGTAGGCTATATTGTGGGGGAGAAAAGTTCAGGAAGAGATCTGATCCTAGCCCTTGGGTGGGCTTCCACCCTTTATGGAGAGGTGAGGCATCGTTCTGGTACAGTCAGACAAAGTTTGAGAAAGGATATGATTATGTGTCCTGGAACAGACACTAAGAACTTTAGTGGCTCAGAGGAGGAAGAGTCAGTGTGGGCTGTGTTTAGGGAAGGCTTTTACACAGGAAGTGAGACCGTATTGTGACTTTAATGATAGATGTCATATTCATAGTCAGAGTGGGAGAGGAGATCCAAGCATCCTGAGCAAAGAGAAAAAGATAGGAATGG
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GGAGAGAAACCGTGGCTCTTAGCGCGGGCAGAGAATGGGCTTATGTGCATGTCCTTTATGACAGTTGGAGAAAAATCCCCAAGGTCCCATAGCAGTCCCTCTCAGCCACCATGAGATCATCCCTCACAAGCTGTTCTTGGGGTCAGATTGGCACTCCAGATATGAGGGCCCTAGGGAGAGCTTCCTAAGGGAAGCTGGGAGCAAGGTGGAACCCCAGGAGAGCGTGGATGGGCTTCCACTGCGGGGAGTGTCCCGCCGGTCCGTTACAGGCTTTCCCCAGGCGCCAGCCTGCGCTGTGCAGGAGACAAAAGAAAATCGAGGCCCTGACTGAGCAGATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGTAAGCCGCACTGCCGTCGGGAGGGCGCTATGGTTTGCTAGGTGAGGGGGCTGGTGAGGATACCACACGTCTGGGGATCCTCGACTGCTTCCTGGAGACTGGAACCACTGAGGGACTCAGGGAGTTCAGAGGGGAGACCCAAGAAGAACGGGCTGAGCGAGGGGGAGAGGACAAACCCTGGGGTCGCTGGCGTGTGTGAGATGGAAATGGAAGGAGGGGCGGCAGGGGGACCAGGGGCGTGGGGGAGACCAGGGTAGGCCCTGAGAGTGAGGGAGCGCCCGGGAACCCTGCTGGCCGGCGAGGCCTTGGTGCGGAGCCCCCAAGTGCTCACCGGGGTGGGTTTGGGACCTGGCGGTCCCGAGCGCCCGGGTGGGGGGTGGGGGAAGGCAGCCGGCGCCGGAGGGTGGGGCCGGGAGGGAGGAGGAGAGGCAGCGGGGGAGGGGCGGGGGCGGGCGGCCTGCCCGGGGGAGTCGCACTCGGCCGCCGGCGCAGCGAGCGGAGACGGGCCGGGCCGAGGCGACCTGACCCGGACGAGCGGCGCGCGCGGGGCCCAGGCGGGGGGCGGGAGGAAGCGCCGGGCAGCGCCGGCCGCCAGGGCCCAGGAGAAGCGGAGCAGAGAGGAGCGGGGACACGGGCGGGGCCGCCGTAGCTCCGGATGGGACCAGCGCCCGGGCCCGTTAGTCCAAGCAGGAGCTCCGGGAGAATCCTTCACAGGGAGATTTACCCCTGCCTTCCCCTGCCCTCCGGCCCAGGCCTCGCTTCGCTCCCCGCCTGCCCATGATCCCAGTCCTTCCGCGGCGCGGGCACCCTCCCACCTTACCCCCTTGGTCCTATGTGGCGCAGCGCCCTCCTGCCCTCCCGGCCCTTTCAGCTGTGAGGTTCCCCCAGGCCGTTTCTTTGTACCACCCGCCCCCCACCCCCACCCCATCCCAGTCCCAGATCCCCTTTTCCTTCTCAGCTTTAGATTTATCAGGCTTCTTCACCTCGCACTGTCCCCATCCTGGCCGCAGGCCCCCTCGGTCCCTCCCTCCCCCTGCCACCCCGTTCTCAGTCCTCAGTCCTTGCCCTAGGCTGGTAGCCCACTCCTTGCCCGCCCCCCGCCTTCCTCCCATCTCCCCCTCCTCTCCCCGGCCCCCAGCACCTTCTGCATCCCAGCCTACCTAGCCTACTCCTCCTCTTCCTGGCCCTCTTCCCCAGGCTCCAGGCTGGGGGGTGCTCGCGTCTCCCCTGTAGGCCAGAGCAGCCCCAAGTTCTGGGGGCGGTGGGGCTGCTGCTTTATCCCCATGGCGCTGCCATCACTTCTGCTGTTGGTGGCAGCCCTGGCAGGTGGGGTGCGTCCTCCCGGGGCGCGGAACCTGACGCTGGCGGTGGTGCTGCCAGAACACAACCTGAGCTATGCCTGGGCCTGGCCACGGGTGGGACCCGCTGTGGCACTAGCTGTGGAGGCTCTGGGCCGGGCACTGCCCGTGGACCTGCGGTTTGTCAGCTCCGAACTGGAAGGCGCCTGCCCTGAGTACCTGGCACCGCTGAGCGCTGTGGACCTCAAGCTGTACCATGACCCCGACCTGCTGTTAGGTCCCGGTTGCGTGTACCCTGCTGCCTCTGTGGCCCGCTTTGCCTCCCACTGGCGCCTTCCCCTGCTGACTGCGGGTGCTGTGGCCTCTGGTTTTTCGGCTAAGAATGACCATTATCGTACCCTGGTTCGCACTGGCCCCTCTGCTCCCAAGCTGGGTGAGTTTGTGGTGACACTACACGGGCACTTCAATTGGACTGCCCGTGCTGCCTTGCTGTACCTGGATGCTCGCACAGATGACCGGCCTCACTACTTCACCATCGAGGGCGTCTTTGAGGCCCTGCAGGGCAGCAACCTCAGTGTGCAGCACCAGGTGTATGCCCGAGAGCCAGGGGGCCCCGAGCAGGCCACCCACTTCATCCGGGCCAACGGGCGCAGTGAGTGTGGCCTGGGCTATTTTAGGGTCATGGGAGGAGGGTCGCTGTGTCCCTAAAGCTCAGCACTGGGGAACTGTAGATGGAGATAGGCATTGAGCAGCTGTATGTGGTGGTTGGGATCAAGAAGCACACGTGGACAGAGCACCTGTGAGAGGGCCAAGGCTTCATCATGGGAGCTTGTGAACACCCTAGGCAGATGCAAACAAGGAAGAAGAGAGCATGAGGGGTGAAGCCTTGTATCAAGGTGGAATGTGAAAATGAGGGGATATTAAGTTTCGGGAGCAATGTTTGTGCCCTAGAGTAGTGAATGTGATTGATAGCCACTCTGAAATGTGCCCTGTCTGTGATCAGAGCTACCACCCAGACTGGGCGCCAAGACCCCTTGGTGGTGTAAAAATAATGAGGGCTCCATGAACGGACTCAGGGCTCAGCAGATTTGGGAAAGACAGATAAAGCTCATACTGAGAAATCTGTGCTGTCTGTGCCTTTGAGCCCAGGGAAGGGCAGGGAAGAGTCAGGGAGCAGGCCGGTTGGGTGGGGAGCAGCAAGGGAGGCTCTGGGAAAGGGAGGGGCTTGAGAGTGACAGCTCCCTTCCTCTGGGGTCTGGACAGGCTCTGACTTCTGCCAGATGGTCCATATGGCCCCAGGGTACTTATGGTGGACTCCAAGAGGGGTGGGCTGGGGAGCATCTGCTTTGGGGTTGATAGGTTAGGGCACTCTCTTTCTTGCTGAAGAGGGACATCCCAGTGATTCAGAGAGGGGGCTGTGTGGGGGACCTGGATACCTTCTCAGGGTGCTCCTCTGTCATGTACCTGCTCCCAGTTGTGTATATCTGCGGCCCTCTGGAGATGCTGCATGAGATCCTGCTTCAGGCCCAGAGGGAGAATCTGACCAATGGGGATTATGTCTTCTTTTACCTGGATGTCTTTGGGGAGAGTCTCCGTGCAGGCCCCACACGTGCTACAGGCCGGCCCTGGCAGGACAATCGCACCCGGGAACAGGCCCAGGCCCTCAGAGAGGCCTTTCAGGTATCATTTGAGCCAAATCTGAAGGAGGAGGGGGAAGAGGTGCTTCGCTGGAAATTCTCTCTCACAAGACCCTAAAGAAACCCTAGGAACCAGGCAGGAATTGTGAGCCACAGGAGTAAAATGAACAGAGGCATTCTGAGTCTAGTGTCACCCTTTCTTACTTCTCTACTTTTGTGACTCTTAGTGTGCTTGCTGCCAAGACTGACTTTGGCTGCCTCCAAAATCCTAAAACACTGACTTTCCTAAGTGCCAGTAGTAGGCTATATTGTGGGGGAGAAAAGTTCAGGAAGAGATCTGATCCTAGCCCTTGGGTGGGCTTCCACCCTTTATGGAGAGGTGAGGCATCGTTCTGGTACAGTCAGACAAAGTTTGAGAAAGGATATGATTATGTGTCCTGGAACAGACACTAAGAACTTTAGTGGCTCAGAGGAGGAAGAGTCAGTGTGGGCTGTGTTTAGGGAAGGCTTTTACACAGGAAGTGAGACCGTATTGTGACTTTAATGATAGATGTCATATTCATAGTCAGAGTGGGAGAGGAGATCCAAGCATCCTGAGCAAAGAGAAAAAGATAGGAATGG
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Task1_train_12820
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This alteration in NPR2 (natriuretic peptide receptor 2) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Acromesomelic dysplasia 1, Maroteaux type
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CATCCCTCACAAGCTGTTCTTGGGGTCAGATTGGCACTCCAGATATGAGGGCCCTAGGGAGAGCTTCCTAAGGGAAGCTGGGAGCAAGGTGGAACCCCAGGAGAGCGTGGATGGGCTTCCACTGCGGGGAGTGTCCCGCCGGTCCGTTACAGGCTTTCCCCAGGCGCCAGCCTGCGCTGTGCAGGAGACAAAAGAAAATCGAGGCCCTGACTGAGCAGATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGTAAGCCGCACTGCCGTCGGGAGGGCGCTATGGTTTGCTAGGTGAGGGGGCTGGTGAGGATACCACACGTCTGGGGATCCTCGACTGCTTCCTGGAGACTGGAACCACTGAGGGACTCAGGGAGTTCAGAGGGGAGACCCAAGAAGAACGGGCTGAGCGAGGGGGAGAGGACAAACCCTGGGGTCGCTGGCGTGTGTGAGATGGAAATGGAAGGAGGGGCGGCAGGGGGACCAGGGGCGTGGGGGAGACCAGGGTAGGCCCTGAGAGTGAGGGAGCGCCCGGGAACCCTGCTGGCCGGCGAGGCCTTGGTGCGGAGCCCCCAAGTGCTCACCGGGGTGGGTTTGGGACCTGGCGGTCCCGAGCGCCCGGGTGGGGGGTGGGGGAAGGCAGCCGGCGCCGGAGGGTGGGGCCGGGAGGGAGGAGGAGAGGCAGCGGGGGAGGGGCGGGGGCGGGCGGCCTGCCCGGGGGAGTCGCACTCGGCCGCCGGCGCAGCGAGCGGAGACGGGCCGGGCCGAGGCGACCTGACCCGGACGAGCGGCGCGCGCGGGGCCCAGGCGGGGGGCGGGAGGAAGCGCCGGGCAGCGCCGGCCGCCAGGGCCCAGGAGAAGCGGAGCAGAGAGGAGCGGGGACACGGGCGGGGCCGCCGTAGCTCCGGATGGGACCAGCGCCCGGGCCCGTTAGTCCAAGCAGGAGCTCCGGGAGAATCCTTCACAGGGAGATTTACCCCTGCCTTCCCCTGCCCTCCGGCCCAGGCCTCGCTTCGCTCCCCGCCTGCCCATGATCCCAGTCCTTCCGCGGCGCGGGCACCCTCCCACCTTACCCCCTTGGTCCTATGTGGCGCAGCGCCCTCCTGCCCTCCCGGCCCTTTCAGCTGTGAGGTTCCCCCAGGCCGTTTCTTTGTACCACCCGCCCCCCACCCCCACCCCATCCCAGTCCCAGATCCCCTTTTCCTTCTCAGCTTTAGATTTATCAGGCTTCTTCACCTCGCACTGTCCCCATCCTGGCCGCAGGCCCCCTCGGTCCCTCCCTCCCCCTGCCACCCCGTTCTCAGTCCTCAGTCCTTGCCCTAGGCTGGTAGCCCACTCCTTGCCCGCCCCCCGCCTTCCTCCCATCTCCCCCTCCTCTCCCCGGCCCCCAGCACCTTCTGCATCCCAGCCTACCTAGCCTACTCCTCCTCTTCCTGGCCCTCTTCCCCAGGCTCCAGGCTGGGGGGTGCTCGCGTCTCCCCTGTAGGCCAGAGCAGCCCCAAGTTCTGGGGGCGGTGGGGCTGCTGCTTTATCCCCATGGCGCTGCCATCACTTCTGCTGTTGGTGGCAGCCCTGGCAGGTGGGGTGCGTCCTCCCGGGGCGCGGAACCTGACGCTGGCGGTGGTGCTGCCAGAACACAACCTGAGCTATGCCTGGGCCTGGCCACGGGTGGGACCCGCTGTGGCACTAGCTGTGGAGGCTCTGGGCCGGGCACTGCCCGTGGACCTGCGGTTTGTCAGCTCCGAACTGGAAGGCGCCTGCTCTGAGTACCTGGCACCGCTGAGCGCTGTGGACCTCAAGCTGTACCATGACCCCGACCTGCTGTTAGGTCCCGGTTGCGTGTACCCTGCTGCCTCTGTGGCCCGCTTTGCCTCCCACTGGCGCCTTCCCCTGCTGACTGCGGGTGCTGTGGCCTCTGGTTTTTCGGCTAAGAATGACCATTATCGTACCCTGGTTCGCACTGGCCCCTCTGCTCCCAAGCTGGGTGAGTTTGTGGTGACACTACACGGGCACTTCAATTGGACTGCCCGTGCTGCCTTGCTGTACCTGGATGCTCGCACAGATGACCGGCCTCACTACTTCACCATCGAGGGCGTCTTTGAGGCCCTGCAGGGCAGCAACCTCAGTGTGCAGCACCAGGTGTATGCCCGAGAGCCAGGGGGCCCCGAGCAGGCCACCCACTTCATCCGGGCCAACGGGCGCAGTGAGTGTGGCCTGGGCTATTTTAGGGTCATGGGAGGAGGGTCGCTGTGTCCCTAAAGCTCAGCACTGGGGAACTGTAGATGGAGATAGGCATTGAGCAGCTGTATGTGGTGGTTGGGATCAAGAAGCACACGTGGACAGAGCACCTGTGAGAGGGCCAAGGCTTCATCATGGGAGCTTGTGAACACCCTAGGCAGATGCAAACAAGGAAGAAGAGAGCATGAGGGGTGAAGCCTTGTATCAAGGTGGAATGTGAAAATGAGGGGATATTAAGTTTCGGGAGCAATGTTTGTGCCCTAGAGTAGTGAATGTGATTGATAGCCACTCTGAAATGTGCCCTGTCTGTGATCAGAGCTACCACCCAGACTGGGCGCCAAGACCCCTTGGTGGTGTAAAAATAATGAGGGCTCCATGAACGGACTCAGGGCTCAGCAGATTTGGGAAAGACAGATAAAGCTCATACTGAGAAATCTGTGCTGTCTGTGCCTTTGAGCCCAGGGAAGGGCAGGGAAGAGTCAGGGAGCAGGCCGGTTGGGTGGGGAGCAGCAAGGGAGGCTCTGGGAAAGGGAGGGGCTTGAGAGTGACAGCTCCCTTCCTCTGGGGTCTGGACAGGCTCTGACTTCTGCCAGATGGTCCATATGGCCCCAGGGTACTTATGGTGGACTCCAAGAGGGGTGGGCTGGGGAGCATCTGCTTTGGGGTTGATAGGTTAGGGCACTCTCTTTCTTGCTGAAGAGGGACATCCCAGTGATTCAGAGAGGGGGCTGTGTGGGGGACCTGGATACCTTCTCAGGGTGCTCCTCTGTCATGTACCTGCTCCCAGTTGTGTATATCTGCGGCCCTCTGGAGATGCTGCATGAGATCCTGCTTCAGGCCCAGAGGGAGAATCTGACCAATGGGGATTATGTCTTCTTTTACCTGGATGTCTTTGGGGAGAGTCTCCGTGCAGGCCCCACACGTGCTACAGGCCGGCCCTGGCAGGACAATCGCACCCGGGAACAGGCCCAGGCCCTCAGAGAGGCCTTTCAGGTATCATTTGAGCCAAATCTGAAGGAGGAGGGGGAAGAGGTGCTTCGCTGGAAATTCTCTCTCACAAGACCCTAAAGAAACCCTAGGAACCAGGCAGGAATTGTGAGCCACAGGAGTAAAATGAACAGAGGCATTCTGAGTCTAGTGTCACCCTTTCTTACTTCTCTACTTTTGTGACTCTTAGTGTGCTTGCTGCCAAGACTGACTTTGGCTGCCTCCAAAATCCTAAAACACTGACTTTCCTAAGTGCCAGTAGTAGGCTATATTGTGGGGGAGAAAAGTTCAGGAAGAGATCTGATCCTAGCCCTTGGGTGGGCTTCCACCCTTTATGGAGAGGTGAGGCATCGTTCTGGTACAGTCAGACAAAGTTTGAGAAAGGATATGATTATGTGTCCTGGAACAGACACTAAGAACTTTAGTGGCTCAGAGGAGGAAGAGTCAGTGTGGGCTGTGTTTAGGGAAGGCTTTTACACAGGAAGTGAGACCGTATTGTGACTTTAATGATAGATGTCATATTCATAGTCAGAGTGGGAGAGGAGATCCAAGCATCCTGAGCAAAGAGAAAAAGATAGGAATGGGCGTGTTTGAGAGACCAAGAAGATACTGACCCGACAAGAATGAGGGGTTCACTTAAAGGAGATACAGGAAATAAAGTTGCAAAGGTAGAATCAGATTAAGGAGAGCTCTAAGTCTTA
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CATCCCTCACAAGCTGTTCTTGGGGTCAGATTGGCACTCCAGATATGAGGGCCCTAGGGAGAGCTTCCTAAGGGAAGCTGGGAGCAAGGTGGAACCCCAGGAGAGCGTGGATGGGCTTCCACTGCGGGGAGTGTCCCGCCGGTCCGTTACAGGCTTTCCCCAGGCGCCAGCCTGCGCTGTGCAGGAGACAAAAGAAAATCGAGGCCCTGACTGAGCAGATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGTAAGCCGCACTGCCGTCGGGAGGGCGCTATGGTTTGCTAGGTGAGGGGGCTGGTGAGGATACCACACGTCTGGGGATCCTCGACTGCTTCCTGGAGACTGGAACCACTGAGGGACTCAGGGAGTTCAGAGGGGAGACCCAAGAAGAACGGGCTGAGCGAGGGGGAGAGGACAAACCCTGGGGTCGCTGGCGTGTGTGAGATGGAAATGGAAGGAGGGGCGGCAGGGGGACCAGGGGCGTGGGGGAGACCAGGGTAGGCCCTGAGAGTGAGGGAGCGCCCGGGAACCCTGCTGGCCGGCGAGGCCTTGGTGCGGAGCCCCCAAGTGCTCACCGGGGTGGGTTTGGGACCTGGCGGTCCCGAGCGCCCGGGTGGGGGGTGGGGGAAGGCAGCCGGCGCCGGAGGGTGGGGCCGGGAGGGAGGAGGAGAGGCAGCGGGGGAGGGGCGGGGGCGGGCGGCCTGCCCGGGGGAGTCGCACTCGGCCGCCGGCGCAGCGAGCGGAGACGGGCCGGGCCGAGGCGACCTGACCCGGACGAGCGGCGCGCGCGGGGCCCAGGCGGGGGGCGGGAGGAAGCGCCGGGCAGCGCCGGCCGCCAGGGCCCAGGAGAAGCGGAGCAGAGAGGAGCGGGGACACGGGCGGGGCCGCCGTAGCTCCGGATGGGACCAGCGCCCGGGCCCGTTAGTCCAAGCAGGAGCTCCGGGAGAATCCTTCACAGGGAGATTTACCCCTGCCTTCCCCTGCCCTCCGGCCCAGGCCTCGCTTCGCTCCCCGCCTGCCCATGATCCCAGTCCTTCCGCGGCGCGGGCACCCTCCCACCTTACCCCCTTGGTCCTATGTGGCGCAGCGCCCTCCTGCCCTCCCGGCCCTTTCAGCTGTGAGGTTCCCCCAGGCCGTTTCTTTGTACCACCCGCCCCCCACCCCCACCCCATCCCAGTCCCAGATCCCCTTTTCCTTCTCAGCTTTAGATTTATCAGGCTTCTTCACCTCGCACTGTCCCCATCCTGGCCGCAGGCCCCCTCGGTCCCTCCCTCCCCCTGCCACCCCGTTCTCAGTCCTCAGTCCTTGCCCTAGGCTGGTAGCCCACTCCTTGCCCGCCCCCCGCCTTCCTCCCATCTCCCCCTCCTCTCCCCGGCCCCCAGCACCTTCTGCATCCCAGCCTACCTAGCCTACTCCTCCTCTTCCTGGCCCTCTTCCCCAGGCTCCAGGCTGGGGGGTGCTCGCGTCTCCCCTGTAGGCCAGAGCAGCCCCAAGTTCTGGGGGCGGTGGGGCTGCTGCTTTATCCCCATGGCGCTGCCATCACTTCTGCTGTTGGTGGCAGCCCTGGCAGGTGGGGTGCGTCCTCCCGGGGCGCGGAACCTGACGCTGGCGGTGGTGCTGCCAGAACACAACCTGAGCTATGCCTGGGCCTGGCCACGGGTGGGACCCGCTGTGGCACTAGCTGTGGAGGCTCTGGGCCGGGCACTGCCCGTGGACCTGCGGTTTGTCAGCTCCGAACTGGAAGGCGCCTGCTCTGAGTACCTGGCACCGCTGAGCGCTGTGGACCTCAAGCTGTACCATGACCCCGACCTGCTGTTAGGTCCCGGTTGCGTGTACCCTGCTGCCTCTGTGGCCCGCTTTGCCTCCCACGGGCGCCTTCCCCTGCTGACTGCGGGTGCTGTGGCCTCTGGTTTTTCGGCTAAGAATGACCATTATCGTACCCTGGTTCGCACTGGCCCCTCTGCTCCCAAGCTGGGTGAGTTTGTGGTGACACTACACGGGCACTTCAATTGGACTGCCCGTGCTGCCTTGCTGTACCTGGATGCTCGCACAGATGACCGGCCTCACTACTTCACCATCGAGGGCGTCTTTGAGGCCCTGCAGGGCAGCAACCTCAGTGTGCAGCACCAGGTGTATGCCCGAGAGCCAGGGGGCCCCGAGCAGGCCACCCACTTCATCCGGGCCAACGGGCGCAGTGAGTGTGGCCTGGGCTATTTTAGGGTCATGGGAGGAGGGTCGCTGTGTCCCTAAAGCTCAGCACTGGGGAACTGTAGATGGAGATAGGCATTGAGCAGCTGTATGTGGTGGTTGGGATCAAGAAGCACACGTGGACAGAGCACCTGTGAGAGGGCCAAGGCTTCATCATGGGAGCTTGTGAACACCCTAGGCAGATGCAAACAAGGAAGAAGAGAGCATGAGGGGTGAAGCCTTGTATCAAGGTGGAATGTGAAAATGAGGGGATATTAAGTTTCGGGAGCAATGTTTGTGCCCTAGAGTAGTGAATGTGATTGATAGCCACTCTGAAATGTGCCCTGTCTGTGATCAGAGCTACCACCCAGACTGGGCGCCAAGACCCCTTGGTGGTGTAAAAATAATGAGGGCTCCATGAACGGACTCAGGGCTCAGCAGATTTGGGAAAGACAGATAAAGCTCATACTGAGAAATCTGTGCTGTCTGTGCCTTTGAGCCCAGGGAAGGGCAGGGAAGAGTCAGGGAGCAGGCCGGTTGGGTGGGGAGCAGCAAGGGAGGCTCTGGGAAAGGGAGGGGCTTGAGAGTGACAGCTCCCTTCCTCTGGGGTCTGGACAGGCTCTGACTTCTGCCAGATGGTCCATATGGCCCCAGGGTACTTATGGTGGACTCCAAGAGGGGTGGGCTGGGGAGCATCTGCTTTGGGGTTGATAGGTTAGGGCACTCTCTTTCTTGCTGAAGAGGGACATCCCAGTGATTCAGAGAGGGGGCTGTGTGGGGGACCTGGATACCTTCTCAGGGTGCTCCTCTGTCATGTACCTGCTCCCAGTTGTGTATATCTGCGGCCCTCTGGAGATGCTGCATGAGATCCTGCTTCAGGCCCAGAGGGAGAATCTGACCAATGGGGATTATGTCTTCTTTTACCTGGATGTCTTTGGGGAGAGTCTCCGTGCAGGCCCCACACGTGCTACAGGCCGGCCCTGGCAGGACAATCGCACCCGGGAACAGGCCCAGGCCCTCAGAGAGGCCTTTCAGGTATCATTTGAGCCAAATCTGAAGGAGGAGGGGGAAGAGGTGCTTCGCTGGAAATTCTCTCTCACAAGACCCTAAAGAAACCCTAGGAACCAGGCAGGAATTGTGAGCCACAGGAGTAAAATGAACAGAGGCATTCTGAGTCTAGTGTCACCCTTTCTTACTTCTCTACTTTTGTGACTCTTAGTGTGCTTGCTGCCAAGACTGACTTTGGCTGCCTCCAAAATCCTAAAACACTGACTTTCCTAAGTGCCAGTAGTAGGCTATATTGTGGGGGAGAAAAGTTCAGGAAGAGATCTGATCCTAGCCCTTGGGTGGGCTTCCACCCTTTATGGAGAGGTGAGGCATCGTTCTGGTACAGTCAGACAAAGTTTGAGAAAGGATATGATTATGTGTCCTGGAACAGACACTAAGAACTTTAGTGGCTCAGAGGAGGAAGAGTCAGTGTGGGCTGTGTTTAGGGAAGGCTTTTACACAGGAAGTGAGACCGTATTGTGACTTTAATGATAGATGTCATATTCATAGTCAGAGTGGGAGAGGAGATCCAAGCATCCTGAGCAAAGAGAAAAAGATAGGAATGGGCGTGTTTGAGAGACCAAGAAGATACTGACCCGACAAGAATGAGGGGTTCACTTAAAGGAGATACAGGAAATAAAGTTGCAAAGGTAGAATCAGATTAAGGAGAGCTCTAAGTCTTA
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Task1_train_12821
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The gene NPR2 (natriuretic peptide receptor 2), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Acromesomelic dysplasia 1, Maroteaux type
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CGTGGATGGGCTTCCACTGCGGGGAGTGTCCCGCCGGTCCGTTACAGGCTTTCCCCAGGCGCCAGCCTGCGCTGTGCAGGAGACAAAAGAAAATCGAGGCCCTGACTGAGCAGATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGTAAGCCGCACTGCCGTCGGGAGGGCGCTATGGTTTGCTAGGTGAGGGGGCTGGTGAGGATACCACACGTCTGGGGATCCTCGACTGCTTCCTGGAGACTGGAACCACTGAGGGACTCAGGGAGTTCAGAGGGGAGACCCAAGAAGAACGGGCTGAGCGAGGGGGAGAGGACAAACCCTGGGGTCGCTGGCGTGTGTGAGATGGAAATGGAAGGAGGGGCGGCAGGGGGACCAGGGGCGTGGGGGAGACCAGGGTAGGCCCTGAGAGTGAGGGAGCGCCCGGGAACCCTGCTGGCCGGCGAGGCCTTGGTGCGGAGCCCCCAAGTGCTCACCGGGGTGGGTTTGGGACCTGGCGGTCCCGAGCGCCCGGGTGGGGGGTGGGGGAAGGCAGCCGGCGCCGGAGGGTGGGGCCGGGAGGGAGGAGGAGAGGCAGCGGGGGAGGGGCGGGGGCGGGCGGCCTGCCCGGGGGAGTCGCACTCGGCCGCCGGCGCAGCGAGCGGAGACGGGCCGGGCCGAGGCGACCTGACCCGGACGAGCGGCGCGCGCGGGGCCCAGGCGGGGGGCGGGAGGAAGCGCCGGGCAGCGCCGGCCGCCAGGGCCCAGGAGAAGCGGAGCAGAGAGGAGCGGGGACACGGGCGGGGCCGCCGTAGCTCCGGATGGGACCAGCGCCCGGGCCCGTTAGTCCAAGCAGGAGCTCCGGGAGAATCCTTCACAGGGAGATTTACCCCTGCCTTCCCCTGCCCTCCGGCCCAGGCCTCGCTTCGCTCCCCGCCTGCCCATGATCCCAGTCCTTCCGCGGCGCGGGCACCCTCCCACCTTACCCCCTTGGTCCTATGTGGCGCAGCGCCCTCCTGCCCTCCCGGCCCTTTCAGCTGTGAGGTTCCCCCAGGCCGTTTCTTTGTACCACCCGCCCCCCACCCCCACCCCATCCCAGTCCCAGATCCCCTTTTCCTTCTCAGCTTTAGATTTATCAGGCTTCTTCACCTCGCACTGTCCCCATCCTGGCCGCAGGCCCCCTCGGTCCCTCCCTCCCCCTGCCACCCCGTTCTCAGTCCTCAGTCCTTGCCCTAGGCTGGTAGCCCACTCCTTGCCCGCCCCCCGCCTTCCTCCCATCTCCCCCTCCTCTCCCCGGCCCCCAGCACCTTCTGCATCCCAGCCTACCTAGCCTACTCCTCCTCTTCCTGGCCCTCTTCCCCAGGCTCCAGGCTGGGGGGTGCTCGCGTCTCCCCTGTAGGCCAGAGCAGCCCCAAGTTCTGGGGGCGGTGGGGCTGCTGCTTTATCCCCATGGCGCTGCCATCACTTCTGCTGTTGGTGGCAGCCCTGGCAGGTGGGGTGCGTCCTCCCGGGGCGCGGAACCTGACGCTGGCGGTGGTGCTGCCAGAACACAACCTGAGCTATGCCTGGGCCTGGCCACGGGTGGGACCCGCTGTGGCACTAGCTGTGGAGGCTCTGGGCCGGGCACTGCCCGTGGACCTGCGGTTTGTCAGCTCCGAACTGGAAGGCGCCTGCTCTGAGTACCTGGCACCGCTGAGCGCTGTGGACCTCAAGCTGTACCATGACCCCGACCTGCTGTTAGGTCCCGGTTGCGTGTACCCTGCTGCCTCTGTGGCCCGCTTTGCCTCCCACTGGCGCCTTCCCCTGCTGACTGCGGGTGCTGTGGCCTCTGGTTTTTCGGCTAAGAATGACCATTATCGTACCCTGGTTCGCACTGGCCCCTCTGCTCCCAAGCTGGGTGAGTTTGTGGTGACACTACACGGGCACTTCAATTGGACTGCCCGTGCTGCCTTGCTGTACCTGGATGCTCGCACAGATGACCGGCCTCACTACTTCACCATCGAGGGCGTCTTTGAGGCCCTGCAGGGCAGCAACCTCAGTGTGCAGCACCAGGTGTATGCCCGAGAGCCAGGGGGCCCCGAGCAGGCCACCCACTTCATCCGGGCCAACGGGCGCAGTGAGTGTGGCCTGGGCTATTTTAGGGTCATGGGAGGAGGGTCGCTGTGTCCCTAAAGCTCAGCACTGGGGAACTGTAGATGGAGATAGGCATTGAGCAGCTGTATGTGGTGGTTGGGATCAAGAAGCACACGTGGACAGAGCACCTGTGAGAGGGCCAAGGCTTCATCATGGGAGCTTGTGAACACCCTAGGCAGATGCAAACAAGGAAGAAGAGAGCATGAGGGGTGAAGCCTTGTATCAAGGTGGAATGTGAAAATGAGGGGATATTAAGTTTCGGGAGCAATGTTTGTGCCCTAGAGTAGTGAATGTGATTGATAGCCACTCTGAAATGTGCCCTGTCTGTGATCAGAGCTACCACCCAGACTGGGCGCCAAGACCCCTTGGTGGTGTAAAAATAATGAGGGCTCCATGAACGGACTCAGGGCTCAGCAGATTTGGGAAAGACAGATAAAGCTCATACTGAGAAATCTGTGCTGTCTGTGCCTTTGAGCCCAGGGAAGGGCAGGGAAGAGTCAGGGAGCAGGCCGGTTGGGTGGGGAGCAGCAAGGGAGGCTCTGGGAAAGGGAGGGGCTTGAGAGTGACAGCTCCCTTCCTCTGGGGTCTGGACAGGCTCTGACTTCTGCCAGATGGTCCATATGGCCCCAGGGTACTTATGGTGGACTCCAAGAGGGGTGGGCTGGGGAGCATCTGCTTTGGGGTTGATAGGTTAGGGCACTCTCTTTCTTGCTGAAGAGGGACATCCCAGTGATTCAGAGAGGGGGCTGTGTGGGGGACCTGGATACCTTCTCAGGGTGCTCCTCTGTCATGTACCTGCTCCCAGTTGTGTATATCTGCGGCCCTCTGGAGATGCTGCATGAGATCCTGCTTCAGGCCCAGAGGGAGAATCTGACCAATGGGGATTATGTCTTCTTTTACCTGGATGTCTTTGGGGAGAGTCTCCGTGCAGGCCCCACACGTGCTACAGGCCGGCCCTGGCAGGACAATCGCACCCGGGAACAGGCCCAGGCCCTCAGAGAGGCCTTTCAGGTATCATTTGAGCCAAATCTGAAGGAGGAGGGGGAAGAGGTGCTTCGCTGGAAATTCTCTCTCACAAGACCCTAAAGAAACCCTAGGAACCAGGCAGGAATTGTGAGCCACAGGAGTAAAATGAACAGAGGCATTCTGAGTCTAGTGTCACCCTTTCTTACTTCTCTACTTTTGTGACTCTTAGTGTGCTTGCTGCCAAGACTGACTTTGGCTGCCTCCAAAATCCTAAAACACTGACTTTCCTAAGTGCCAGTAGTAGGCTATATTGTGGGGGAGAAAAGTTCAGGAAGAGATCTGATCCTAGCCCTTGGGTGGGCTTCCACCCTTTATGGAGAGGTGAGGCATCGTTCTGGTACAGTCAGACAAAGTTTGAGAAAGGATATGATTATGTGTCCTGGAACAGACACTAAGAACTTTAGTGGCTCAGAGGAGGAAGAGTCAGTGTGGGCTGTGTTTAGGGAAGGCTTTTACACAGGAAGTGAGACCGTATTGTGACTTTAATGATAGATGTCATATTCATAGTCAGAGTGGGAGAGGAGATCCAAGCATCCTGAGCAAAGAGAAAAAGATAGGAATGGGCGTGTTTGAGAGACCAAGAAGATACTGACCCGACAAGAATGAGGGGTTCACTTAAAGGAGATACAGGAAATAAAGTTGCAAAGGTAGAATCAGATTAAGGAGAGCTCTAAGTCTTAAGGCACTAGGACTTGAATTTGGGGTCCTTGACTTTTTGTGTGTGTGTGTGTGTGTGTGGAGATAATTATACAGTAGTGACAGAATTCAGGATTAGAAGAGGGGGA
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CGTGGATGGGCTTCCACTGCGGGGAGTGTCCCGCCGGTCCGTTACAGGCTTTCCCCAGGCGCCAGCCTGCGCTGTGCAGGAGACAAAAGAAAATCGAGGCCCTGACTGAGCAGATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGTAAGCCGCACTGCCGTCGGGAGGGCGCTATGGTTTGCTAGGTGAGGGGGCTGGTGAGGATACCACACGTCTGGGGATCCTCGACTGCTTCCTGGAGACTGGAACCACTGAGGGACTCAGGGAGTTCAGAGGGGAGACCCAAGAAGAACGGGCTGAGCGAGGGGGAGAGGACAAACCCTGGGGTCGCTGGCGTGTGTGAGATGGAAATGGAAGGAGGGGCGGCAGGGGGACCAGGGGCGTGGGGGAGACCAGGGTAGGCCCTGAGAGTGAGGGAGCGCCCGGGAACCCTGCTGGCCGGCGAGGCCTTGGTGCGGAGCCCCCAAGTGCTCACCGGGGTGGGTTTGGGACCTGGCGGTCCCGAGCGCCCGGGTGGGGGGTGGGGGAAGGCAGCCGGCGCCGGAGGGTGGGGCCGGGAGGGAGGAGGAGAGGCAGCGGGGGAGGGGCGGGGGCGGGCGGCCTGCCCGGGGGAGTCGCACTCGGCCGCCGGCGCAGCGAGCGGAGACGGGCCGGGCCGAGGCGACCTGACCCGGACGAGCGGCGCGCGCGGGGCCCAGGCGGGGGGCGGGAGGAAGCGCCGGGCAGCGCCGGCCGCCAGGGCCCAGGAGAAGCGGAGCAGAGAGGAGCGGGGACACGGGCGGGGCCGCCGTAGCTCCGGATGGGACCAGCGCCCGGGCCCGTTAGTCCAAGCAGGAGCTCCGGGAGAATCCTTCACAGGGAGATTTACCCCTGCCTTCCCCTGCCCTCCGGCCCAGGCCTCGCTTCGCTCCCCGCCTGCCCATGATCCCAGTCCTTCCGCGGCGCGGGCACCCTCCCACCTTACCCCCTTGGTCCTATGTGGCGCAGCGCCCTCCTGCCCTCCCGGCCCTTTCAGCTGTGAGGTTCCCCCAGGCCGTTTCTTTGTACCACCCGCCCCCCACCCCCACCCCATCCCAGTCCCAGATCCCCTTTTCCTTCTCAGCTTTAGATTTATCAGGCTTCTTCACCTCGCACTGTCCCCATCCTGGCCGCAGGCCCCCTCGGTCCCTCCCTCCCCCTGCCACCCCGTTCTCAGTCCTCAGTCCTTGCCCTAGGCTGGTAGCCCACTCCTTGCCCGCCCCCCGCCTTCCTCCCATCTCCCCCTCCTCTCCCCGGCCCCCAGCACCTTCTGCATCCCAGCCTACCTAGCCTACTCCTCCTCTTCCTGGCCCTCTTCCCCAGGCTCCAGGCTGGGGGGTGCTCGCGTCTCCCCTGTAGGCCAGAGCAGCCCCAAGTTCTGGGGGCGGTGGGGCTGCTGCTTTATCCCCATGGCGCTGCCATCACTTCTGCTGTTGGTGGCAGCCCTGGCAGGTGGGGTGCGTCCTCCCGGGGCGCGGAACCTGACGCTGGCGGTGGTGCTGCCAGAACACAACCTGAGCTATGCCTGGGCCTGGCCACGGGTGGGACCCGCTGTGGCACTAGCTGTGGAGGCTCTGGGCCGGGCACTGCCCGTGGACCTGCGGTTTGTCAGCTCCGAACTGGAAGGCGCCTGCTCTGAGTACCTGGCACCGCTGAGCGCTGTGGACCTCAAGCTGTACCATGACCCCGACCTGCTGTTAGGTCCCGGTTGCGTGTACCCTGCTGCCTCTGTGGCCCGCTTTGCCTCCCACTGGCGCCTTCCCCTGCTGACTGCGGGTGCTGTGGCCTCTGGTTTTTCGGCTAAGAATGACCATTATCGTACCCTGGTTCGCACTGGCCCCTCTGCTCCCAAGCTGAGTGAGTTTGTGGTGACACTACACGGGCACTTCAATTGGACTGCCCGTGCTGCCTTGCTGTACCTGGATGCTCGCACAGATGACCGGCCTCACTACTTCACCATCGAGGGCGTCTTTGAGGCCCTGCAGGGCAGCAACCTCAGTGTGCAGCACCAGGTGTATGCCCGAGAGCCAGGGGGCCCCGAGCAGGCCACCCACTTCATCCGGGCCAACGGGCGCAGTGAGTGTGGCCTGGGCTATTTTAGGGTCATGGGAGGAGGGTCGCTGTGTCCCTAAAGCTCAGCACTGGGGAACTGTAGATGGAGATAGGCATTGAGCAGCTGTATGTGGTGGTTGGGATCAAGAAGCACACGTGGACAGAGCACCTGTGAGAGGGCCAAGGCTTCATCATGGGAGCTTGTGAACACCCTAGGCAGATGCAAACAAGGAAGAAGAGAGCATGAGGGGTGAAGCCTTGTATCAAGGTGGAATGTGAAAATGAGGGGATATTAAGTTTCGGGAGCAATGTTTGTGCCCTAGAGTAGTGAATGTGATTGATAGCCACTCTGAAATGTGCCCTGTCTGTGATCAGAGCTACCACCCAGACTGGGCGCCAAGACCCCTTGGTGGTGTAAAAATAATGAGGGCTCCATGAACGGACTCAGGGCTCAGCAGATTTGGGAAAGACAGATAAAGCTCATACTGAGAAATCTGTGCTGTCTGTGCCTTTGAGCCCAGGGAAGGGCAGGGAAGAGTCAGGGAGCAGGCCGGTTGGGTGGGGAGCAGCAAGGGAGGCTCTGGGAAAGGGAGGGGCTTGAGAGTGACAGCTCCCTTCCTCTGGGGTCTGGACAGGCTCTGACTTCTGCCAGATGGTCCATATGGCCCCAGGGTACTTATGGTGGACTCCAAGAGGGGTGGGCTGGGGAGCATCTGCTTTGGGGTTGATAGGTTAGGGCACTCTCTTTCTTGCTGAAGAGGGACATCCCAGTGATTCAGAGAGGGGGCTGTGTGGGGGACCTGGATACCTTCTCAGGGTGCTCCTCTGTCATGTACCTGCTCCCAGTTGTGTATATCTGCGGCCCTCTGGAGATGCTGCATGAGATCCTGCTTCAGGCCCAGAGGGAGAATCTGACCAATGGGGATTATGTCTTCTTTTACCTGGATGTCTTTGGGGAGAGTCTCCGTGCAGGCCCCACACGTGCTACAGGCCGGCCCTGGCAGGACAATCGCACCCGGGAACAGGCCCAGGCCCTCAGAGAGGCCTTTCAGGTATCATTTGAGCCAAATCTGAAGGAGGAGGGGGAAGAGGTGCTTCGCTGGAAATTCTCTCTCACAAGACCCTAAAGAAACCCTAGGAACCAGGCAGGAATTGTGAGCCACAGGAGTAAAATGAACAGAGGCATTCTGAGTCTAGTGTCACCCTTTCTTACTTCTCTACTTTTGTGACTCTTAGTGTGCTTGCTGCCAAGACTGACTTTGGCTGCCTCCAAAATCCTAAAACACTGACTTTCCTAAGTGCCAGTAGTAGGCTATATTGTGGGGGAGAAAAGTTCAGGAAGAGATCTGATCCTAGCCCTTGGGTGGGCTTCCACCCTTTATGGAGAGGTGAGGCATCGTTCTGGTACAGTCAGACAAAGTTTGAGAAAGGATATGATTATGTGTCCTGGAACAGACACTAAGAACTTTAGTGGCTCAGAGGAGGAAGAGTCAGTGTGGGCTGTGTTTAGGGAAGGCTTTTACACAGGAAGTGAGACCGTATTGTGACTTTAATGATAGATGTCATATTCATAGTCAGAGTGGGAGAGGAGATCCAAGCATCCTGAGCAAAGAGAAAAAGATAGGAATGGGCGTGTTTGAGAGACCAAGAAGATACTGACCCGACAAGAATGAGGGGTTCACTTAAAGGAGATACAGGAAATAAAGTTGCAAAGGTAGAATCAGATTAAGGAGAGCTCTAAGTCTTAAGGCACTAGGACTTGAATTTGGGGTCCTTGACTTTTTGTGTGTGTGTGTGTGTGTGTGGAGATAATTATACAGTAGTGACAGAATTCAGGATTAGAAGAGGGGGA
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Task1_train_12822
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A variant was discovered on Chromosome 9, affecting NPR2 (natriuretic peptide receptor 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Acromesomelic dysplasia 1, Maroteaux type
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AGACAAAAGAAAATCGAGGCCCTGACTGAGCAGATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGTAAGCCGCACTGCCGTCGGGAGGGCGCTATGGTTTGCTAGGTGAGGGGGCTGGTGAGGATACCACACGTCTGGGGATCCTCGACTGCTTCCTGGAGACTGGAACCACTGAGGGACTCAGGGAGTTCAGAGGGGAGACCCAAGAAGAACGGGCTGAGCGAGGGGGAGAGGACAAACCCTGGGGTCGCTGGCGTGTGTGAGATGGAAATGGAAGGAGGGGCGGCAGGGGGACCAGGGGCGTGGGGGAGACCAGGGTAGGCCCTGAGAGTGAGGGAGCGCCCGGGAACCCTGCTGGCCGGCGAGGCCTTGGTGCGGAGCCCCCAAGTGCTCACCGGGGTGGGTTTGGGACCTGGCGGTCCCGAGCGCCCGGGTGGGGGGTGGGGGAAGGCAGCCGGCGCCGGAGGGTGGGGCCGGGAGGGAGGAGGAGAGGCAGCGGGGGAGGGGCGGGGGCGGGCGGCCTGCCCGGGGGAGTCGCACTCGGCCGCCGGCGCAGCGAGCGGAGACGGGCCGGGCCGAGGCGACCTGACCCGGACGAGCGGCGCGCGCGGGGCCCAGGCGGGGGGCGGGAGGAAGCGCCGGGCAGCGCCGGCCGCCAGGGCCCAGGAGAAGCGGAGCAGAGAGGAGCGGGGACACGGGCGGGGCCGCCGTAGCTCCGGATGGGACCAGCGCCCGGGCCCGTTAGTCCAAGCAGGAGCTCCGGGAGAATCCTTCACAGGGAGATTTACCCCTGCCTTCCCCTGCCCTCCGGCCCAGGCCTCGCTTCGCTCCCCGCCTGCCCATGATCCCAGTCCTTCCGCGGCGCGGGCACCCTCCCACCTTACCCCCTTGGTCCTATGTGGCGCAGCGCCCTCCTGCCCTCCCGGCCCTTTCAGCTGTGAGGTTCCCCCAGGCCGTTTCTTTGTACCACCCGCCCCCCACCCCCACCCCATCCCAGTCCCAGATCCCCTTTTCCTTCTCAGCTTTAGATTTATCAGGCTTCTTCACCTCGCACTGTCCCCATCCTGGCCGCAGGCCCCCTCGGTCCCTCCCTCCCCCTGCCACCCCGTTCTCAGTCCTCAGTCCTTGCCCTAGGCTGGTAGCCCACTCCTTGCCCGCCCCCCGCCTTCCTCCCATCTCCCCCTCCTCTCCCCGGCCCCCAGCACCTTCTGCATCCCAGCCTACCTAGCCTACTCCTCCTCTTCCTGGCCCTCTTCCCCAGGCTCCAGGCTGGGGGGTGCTCGCGTCTCCCCTGTAGGCCAGAGCAGCCCCAAGTTCTGGGGGCGGTGGGGCTGCTGCTTTATCCCCATGGCGCTGCCATCACTTCTGCTGTTGGTGGCAGCCCTGGCAGGTGGGGTGCGTCCTCCCGGGGCGCGGAACCTGACGCTGGCGGTGGTGCTGCCAGAACACAACCTGAGCTATGCCTGGGCCTGGCCACGGGTGGGACCCGCTGTGGCACTAGCTGTGGAGGCTCTGGGCCGGGCACTGCCCGTGGACCTGCGGTTTGTCAGCTCCGAACTGGAAGGCGCCTGCTCTGAGTACCTGGCACCGCTGAGCGCTGTGGACCTCAAGCTGTACCATGACCCCGACCTGCTGTTAGGTCCCGGTTGCGTGTACCCTGCTGCCTCTGTGGCCCGCTTTGCCTCCCACTGGCGCCTTCCCCTGCTGACTGCGGGTGCTGTGGCCTCTGGTTTTTCGGCTAAGAATGACCATTATCGTACCCTGGTTCGCACTGGCCCCTCTGCTCCCAAGCTGGGTGAGTTTGTGGTGACACTACACGGGCACTTCAATTGGACTGCCCGTGCTGCCTTGCTGTACCTGGATGCTCGCACAGATGACCGGCCTCACTACTTCACCATCGAGGGCGTCTTTGAGGCCCTGCAGGGCAGCAACCTCAGTGTGCAGCACCAGGTGTATGCCCGAGAGCCAGGGGGCCCCGAGCAGGCCACCCACTTCATCCGGGCCAACGGGCGCAGTGAGTGTGGCCTGGGCTATTTTAGGGTCATGGGAGGAGGGTCGCTGTGTCCCTAAAGCTCAGCACTGGGGAACTGTAGATGGAGATAGGCATTGAGCAGCTGTATGTGGTGGTTGGGATCAAGAAGCACACGTGGACAGAGCACCTGTGAGAGGGCCAAGGCTTCATCATGGGAGCTTGTGAACACCCTAGGCAGATGCAAACAAGGAAGAAGAGAGCATGAGGGGTGAAGCCTTGTATCAAGGTGGAATGTGAAAATGAGGGGATATTAAGTTTCGGGAGCAATGTTTGTGCCCTAGAGTAGTGAATGTGATTGATAGCCACTCTGAAATGTGCCCTGTCTGTGATCAGAGCTACCACCCAGACTGGGCGCCAAGACCCCTTGGTGGTGTAAAAATAATGAGGGCTCCATGAACGGACTCAGGGCTCAGCAGATTTGGGAAAGACAGATAAAGCTCATACTGAGAAATCTGTGCTGTCTGTGCCTTTGAGCCCAGGGAAGGGCAGGGAAGAGTCAGGGAGCAGGCCGGTTGGGTGGGGAGCAGCAAGGGAGGCTCTGGGAAAGGGAGGGGCTTGAGAGTGACAGCTCCCTTCCTCTGGGGTCTGGACAGGCTCTGACTTCTGCCAGATGGTCCATATGGCCCCAGGGTACTTATGGTGGACTCCAAGAGGGGTGGGCTGGGGAGCATCTGCTTTGGGGTTGATAGGTTAGGGCACTCTCTTTCTTGCTGAAGAGGGACATCCCAGTGATTCAGAGAGGGGGCTGTGTGGGGGACCTGGATACCTTCTCAGGGTGCTCCTCTGTCATGTACCTGCTCCCAGTTGTGTATATCTGCGGCCCTCTGGAGATGCTGCATGAGATCCTGCTTCAGGCCCAGAGGGAGAATCTGACCAATGGGGATTATGTCTTCTTTTACCTGGATGTCTTTGGGGAGAGTCTCCGTGCAGGCCCCACACGTGCTACAGGCCGGCCCTGGCAGGACAATCGCACCCGGGAACAGGCCCAGGCCCTCAGAGAGGCCTTTCAGGTATCATTTGAGCCAAATCTGAAGGAGGAGGGGGAAGAGGTGCTTCGCTGGAAATTCTCTCTCACAAGACCCTAAAGAAACCCTAGGAACCAGGCAGGAATTGTGAGCCACAGGAGTAAAATGAACAGAGGCATTCTGAGTCTAGTGTCACCCTTTCTTACTTCTCTACTTTTGTGACTCTTAGTGTGCTTGCTGCCAAGACTGACTTTGGCTGCCTCCAAAATCCTAAAACACTGACTTTCCTAAGTGCCAGTAGTAGGCTATATTGTGGGGGAGAAAAGTTCAGGAAGAGATCTGATCCTAGCCCTTGGGTGGGCTTCCACCCTTTATGGAGAGGTGAGGCATCGTTCTGGTACAGTCAGACAAAGTTTGAGAAAGGATATGATTATGTGTCCTGGAACAGACACTAAGAACTTTAGTGGCTCAGAGGAGGAAGAGTCAGTGTGGGCTGTGTTTAGGGAAGGCTTTTACACAGGAAGTGAGACCGTATTGTGACTTTAATGATAGATGTCATATTCATAGTCAGAGTGGGAGAGGAGATCCAAGCATCCTGAGCAAAGAGAAAAAGATAGGAATGGGCGTGTTTGAGAGACCAAGAAGATACTGACCCGACAAGAATGAGGGGTTCACTTAAAGGAGATACAGGAAATAAAGTTGCAAAGGTAGAATCAGATTAAGGAGAGCTCTAAGTCTTAAGGCACTAGGACTTGAATTTGGGGTCCTTGACTTTTTGTGTGTGTGTGTGTGTGTGTGGAGATAATTATACAGTAGTGACAGAATTCAGGATTAGAAGAGGGGGAGACCTGGGGCAGTGAGACCAACTGTAACAGATTAGAAGGGGGTGAGGTGATATAGCTTGAACTAGTGTGATGATAGCAGG
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AGACAAAAGAAAATCGAGGCCCTGACTGAGCAGATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGTAAGCCGCACTGCCGTCGGGAGGGCGCTATGGTTTGCTAGGTGAGGGGGCTGGTGAGGATACCACACGTCTGGGGATCCTCGACTGCTTCCTGGAGACTGGAACCACTGAGGGACTCAGGGAGTTCAGAGGGGAGACCCAAGAAGAACGGGCTGAGCGAGGGGGAGAGGACAAACCCTGGGGTCGCTGGCGTGTGTGAGATGGAAATGGAAGGAGGGGCGGCAGGGGGACCAGGGGCGTGGGGGAGACCAGGGTAGGCCCTGAGAGTGAGGGAGCGCCCGGGAACCCTGCTGGCCGGCGAGGCCTTGGTGCGGAGCCCCCAAGTGCTCACCGGGGTGGGTTTGGGACCTGGCGGTCCCGAGCGCCCGGGTGGGGGGTGGGGGAAGGCAGCCGGCGCCGGAGGGTGGGGCCGGGAGGGAGGAGGAGAGGCAGCGGGGGAGGGGCGGGGGCGGGCGGCCTGCCCGGGGGAGTCGCACTCGGCCGCCGGCGCAGCGAGCGGAGACGGGCCGGGCCGAGGCGACCTGACCCGGACGAGCGGCGCGCGCGGGGCCCAGGCGGGGGGCGGGAGGAAGCGCCGGGCAGCGCCGGCCGCCAGGGCCCAGGAGAAGCGGAGCAGAGAGGAGCGGGGACACGGGCGGGGCCGCCGTAGCTCCGGATGGGACCAGCGCCCGGGCCCGTTAGTCCAAGCAGGAGCTCCGGGAGAATCCTTCACAGGGAGATTTACCCCTGCCTTCCCCTGCCCTCCGGCCCAGGCCTCGCTTCGCTCCCCGCCTGCCCATGATCCCAGTCCTTCCGCGGCGCGGGCACCCTCCCACCTTACCCCCTTGGTCCTATGTGGCGCAGCGCCCTCCTGCCCTCCCGGCCCTTTCAGCTGTGAGGTTCCCCCAGGCCGTTTCTTTGTACCACCCGCCCCCCACCCCCACCCCATCCCAGTCCCAGATCCCCTTTTCCTTCTCAGCTTTAGATTTATCAGGCTTCTTCACCTCGCACTGTCCCCATCCTGGCCGCAGGCCCCCTCGGTCCCTCCCTCCCCCTGCCACCCCGTTCTCAGTCCTCAGTCCTTGCCCTAGGCTGGTAGCCCACTCCTTGCCCGCCCCCCGCCTTCCTCCCATCTCCCCCTCCTCTCCCCGGCCCCCAGCACCTTCTGCATCCCAGCCTACCTAGCCTACTCCTCCTCTTCCTGGCCCTCTTCCCCAGGCTCCAGGCTGGGGGGTGCTCGCGTCTCCCCTGTAGGCCAGAGCAGCCCCAAGTTCTGGGGGCGGTGGGGCTGCTGCTTTATCCCCATGGCGCTGCCATCACTTCTGCTGTTGGTGGCAGCCCTGGCAGGTGGGGTGCGTCCTCCCGGGGCGCGGAACCTGACGCTGGCGGTGGTGCTGCCAGAACACAACCTGAGCTATGCCTGGGCCTGGCCACGGGTGGGACCCGCTGTGGCACTAGCTGTGGAGGCTCTGGGCCGGGCACTGCCCGTGGACCTGCGGTTTGTCAGCTCCGAACTGGAAGGCGCCTGCTCTGAGTACCTGGCACCGCTGAGCGCTGTGGACCTCAAGCTGTACCATGACCCCGACCTGCTGTTAGGTCCCGGTTGCGTGTACCCTGCTGCCTCTGTGGCCCGCTTTGCCTCCCACTGGCGCCTTCCCCTGCTGACTGCGGGTGCTGTGGCCTCTGGTTTTTCGGCTAAGAATGACCATTATCGTACCCTGGTTCGCACTGGCCCCTCTGCTCCCAAGCTGGGTGAGTTTGTGGTGACACTACACGGGCACTTCAATTGGACTGCCCGTGCTGCCTTGCTGTACCTGGATGCTCGCACAGAAGACCGGCCTCACTACTTCACCATCGAGGGCGTCTTTGAGGCCCTGCAGGGCAGCAACCTCAGTGTGCAGCACCAGGTGTATGCCCGAGAGCCAGGGGGCCCCGAGCAGGCCACCCACTTCATCCGGGCCAACGGGCGCAGTGAGTGTGGCCTGGGCTATTTTAGGGTCATGGGAGGAGGGTCGCTGTGTCCCTAAAGCTCAGCACTGGGGAACTGTAGATGGAGATAGGCATTGAGCAGCTGTATGTGGTGGTTGGGATCAAGAAGCACACGTGGACAGAGCACCTGTGAGAGGGCCAAGGCTTCATCATGGGAGCTTGTGAACACCCTAGGCAGATGCAAACAAGGAAGAAGAGAGCATGAGGGGTGAAGCCTTGTATCAAGGTGGAATGTGAAAATGAGGGGATATTAAGTTTCGGGAGCAATGTTTGTGCCCTAGAGTAGTGAATGTGATTGATAGCCACTCTGAAATGTGCCCTGTCTGTGATCAGAGCTACCACCCAGACTGGGCGCCAAGACCCCTTGGTGGTGTAAAAATAATGAGGGCTCCATGAACGGACTCAGGGCTCAGCAGATTTGGGAAAGACAGATAAAGCTCATACTGAGAAATCTGTGCTGTCTGTGCCTTTGAGCCCAGGGAAGGGCAGGGAAGAGTCAGGGAGCAGGCCGGTTGGGTGGGGAGCAGCAAGGGAGGCTCTGGGAAAGGGAGGGGCTTGAGAGTGACAGCTCCCTTCCTCTGGGGTCTGGACAGGCTCTGACTTCTGCCAGATGGTCCATATGGCCCCAGGGTACTTATGGTGGACTCCAAGAGGGGTGGGCTGGGGAGCATCTGCTTTGGGGTTGATAGGTTAGGGCACTCTCTTTCTTGCTGAAGAGGGACATCCCAGTGATTCAGAGAGGGGGCTGTGTGGGGGACCTGGATACCTTCTCAGGGTGCTCCTCTGTCATGTACCTGCTCCCAGTTGTGTATATCTGCGGCCCTCTGGAGATGCTGCATGAGATCCTGCTTCAGGCCCAGAGGGAGAATCTGACCAATGGGGATTATGTCTTCTTTTACCTGGATGTCTTTGGGGAGAGTCTCCGTGCAGGCCCCACACGTGCTACAGGCCGGCCCTGGCAGGACAATCGCACCCGGGAACAGGCCCAGGCCCTCAGAGAGGCCTTTCAGGTATCATTTGAGCCAAATCTGAAGGAGGAGGGGGAAGAGGTGCTTCGCTGGAAATTCTCTCTCACAAGACCCTAAAGAAACCCTAGGAACCAGGCAGGAATTGTGAGCCACAGGAGTAAAATGAACAGAGGCATTCTGAGTCTAGTGTCACCCTTTCTTACTTCTCTACTTTTGTGACTCTTAGTGTGCTTGCTGCCAAGACTGACTTTGGCTGCCTCCAAAATCCTAAAACACTGACTTTCCTAAGTGCCAGTAGTAGGCTATATTGTGGGGGAGAAAAGTTCAGGAAGAGATCTGATCCTAGCCCTTGGGTGGGCTTCCACCCTTTATGGAGAGGTGAGGCATCGTTCTGGTACAGTCAGACAAAGTTTGAGAAAGGATATGATTATGTGTCCTGGAACAGACACTAAGAACTTTAGTGGCTCAGAGGAGGAAGAGTCAGTGTGGGCTGTGTTTAGGGAAGGCTTTTACACAGGAAGTGAGACCGTATTGTGACTTTAATGATAGATGTCATATTCATAGTCAGAGTGGGAGAGGAGATCCAAGCATCCTGAGCAAAGAGAAAAAGATAGGAATGGGCGTGTTTGAGAGACCAAGAAGATACTGACCCGACAAGAATGAGGGGTTCACTTAAAGGAGATACAGGAAATAAAGTTGCAAAGGTAGAATCAGATTAAGGAGAGCTCTAAGTCTTAAGGCACTAGGACTTGAATTTGGGGTCCTTGACTTTTTGTGTGTGTGTGTGTGTGTGTGGAGATAATTATACAGTAGTGACAGAATTCAGGATTAGAAGAGGGGGAGACCTGGGGCAGTGAGACCAACTGTAACAGATTAGAAGGGGGTGAGGTGATATAGCTTGAACTAGTGTGATGATAGCAGG
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Task1_train_12823
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An alteration has been detected in NPR2 (natriuretic peptide receptor 2) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Acromesomelic dysplasia 1, Maroteaux type
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GATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGTAAGCCGCACTGCCGTCGGGAGGGCGCTATGGTTTGCTAGGTGAGGGGGCTGGTGAGGATACCACACGTCTGGGGATCCTCGACTGCTTCCTGGAGACTGGAACCACTGAGGGACTCAGGGAGTTCAGAGGGGAGACCCAAGAAGAACGGGCTGAGCGAGGGGGAGAGGACAAACCCTGGGGTCGCTGGCGTGTGTGAGATGGAAATGGAAGGAGGGGCGGCAGGGGGACCAGGGGCGTGGGGGAGACCAGGGTAGGCCCTGAGAGTGAGGGAGCGCCCGGGAACCCTGCTGGCCGGCGAGGCCTTGGTGCGGAGCCCCCAAGTGCTCACCGGGGTGGGTTTGGGACCTGGCGGTCCCGAGCGCCCGGGTGGGGGGTGGGGGAAGGCAGCCGGCGCCGGAGGGTGGGGCCGGGAGGGAGGAGGAGAGGCAGCGGGGGAGGGGCGGGGGCGGGCGGCCTGCCCGGGGGAGTCGCACTCGGCCGCCGGCGCAGCGAGCGGAGACGGGCCGGGCCGAGGCGACCTGACCCGGACGAGCGGCGCGCGCGGGGCCCAGGCGGGGGGCGGGAGGAAGCGCCGGGCAGCGCCGGCCGCCAGGGCCCAGGAGAAGCGGAGCAGAGAGGAGCGGGGACACGGGCGGGGCCGCCGTAGCTCCGGATGGGACCAGCGCCCGGGCCCGTTAGTCCAAGCAGGAGCTCCGGGAGAATCCTTCACAGGGAGATTTACCCCTGCCTTCCCCTGCCCTCCGGCCCAGGCCTCGCTTCGCTCCCCGCCTGCCCATGATCCCAGTCCTTCCGCGGCGCGGGCACCCTCCCACCTTACCCCCTTGGTCCTATGTGGCGCAGCGCCCTCCTGCCCTCCCGGCCCTTTCAGCTGTGAGGTTCCCCCAGGCCGTTTCTTTGTACCACCCGCCCCCCACCCCCACCCCATCCCAGTCCCAGATCCCCTTTTCCTTCTCAGCTTTAGATTTATCAGGCTTCTTCACCTCGCACTGTCCCCATCCTGGCCGCAGGCCCCCTCGGTCCCTCCCTCCCCCTGCCACCCCGTTCTCAGTCCTCAGTCCTTGCCCTAGGCTGGTAGCCCACTCCTTGCCCGCCCCCCGCCTTCCTCCCATCTCCCCCTCCTCTCCCCGGCCCCCAGCACCTTCTGCATCCCAGCCTACCTAGCCTACTCCTCCTCTTCCTGGCCCTCTTCCCCAGGCTCCAGGCTGGGGGGTGCTCGCGTCTCCCCTGTAGGCCAGAGCAGCCCCAAGTTCTGGGGGCGGTGGGGCTGCTGCTTTATCCCCATGGCGCTGCCATCACTTCTGCTGTTGGTGGCAGCCCTGGCAGGTGGGGTGCGTCCTCCCGGGGCGCGGAACCTGACGCTGGCGGTGGTGCTGCCAGAACACAACCTGAGCTATGCCTGGGCCTGGCCACGGGTGGGACCCGCTGTGGCACTAGCTGTGGAGGCTCTGGGCCGGGCACTGCCCGTGGACCTGCGGTTTGTCAGCTCCGAACTGGAAGGCGCCTGCTCTGAGTACCTGGCACCGCTGAGCGCTGTGGACCTCAAGCTGTACCATGACCCCGACCTGCTGTTAGGTCCCGGTTGCGTGTACCCTGCTGCCTCTGTGGCCCGCTTTGCCTCCCACTGGCGCCTTCCCCTGCTGACTGCGGGTGCTGTGGCCTCTGGTTTTTCGGCTAAGAATGACCATTATCGTACCCTGGTTCGCACTGGCCCCTCTGCTCCCAAGCTGGGTGAGTTTGTGGTGACACTACACGGGCACTTCAATTGGACTGCCCGTGCTGCCTTGCTGTACCTGGATGCTCGCACAGATGACCGGCCTCACTACTTCACCATCGAGGGCGTCTTTGAGGCCCTGCAGGGCAGCAACCTCAGTGTGCAGCACCAGGTGTATGCCCGAGAGCCAGGGGGCCCCGAGCAGGCCACCCACTTCATCCGGGCCAACGGGCGCAGTGAGTGTGGCCTGGGCTATTTTAGGGTCATGGGAGGAGGGTCGCTGTGTCCCTAAAGCTCAGCACTGGGGAACTGTAGATGGAGATAGGCATTGAGCAGCTGTATGTGGTGGTTGGGATCAAGAAGCACACGTGGACAGAGCACCTGTGAGAGGGCCAAGGCTTCATCATGGGAGCTTGTGAACACCCTAGGCAGATGCAAACAAGGAAGAAGAGAGCATGAGGGGTGAAGCCTTGTATCAAGGTGGAATGTGAAAATGAGGGGATATTAAGTTTCGGGAGCAATGTTTGTGCCCTAGAGTAGTGAATGTGATTGATAGCCACTCTGAAATGTGCCCTGTCTGTGATCAGAGCTACCACCCAGACTGGGCGCCAAGACCCCTTGGTGGTGTAAAAATAATGAGGGCTCCATGAACGGACTCAGGGCTCAGCAGATTTGGGAAAGACAGATAAAGCTCATACTGAGAAATCTGTGCTGTCTGTGCCTTTGAGCCCAGGGAAGGGCAGGGAAGAGTCAGGGAGCAGGCCGGTTGGGTGGGGAGCAGCAAGGGAGGCTCTGGGAAAGGGAGGGGCTTGAGAGTGACAGCTCCCTTCCTCTGGGGTCTGGACAGGCTCTGACTTCTGCCAGATGGTCCATATGGCCCCAGGGTACTTATGGTGGACTCCAAGAGGGGTGGGCTGGGGAGCATCTGCTTTGGGGTTGATAGGTTAGGGCACTCTCTTTCTTGCTGAAGAGGGACATCCCAGTGATTCAGAGAGGGGGCTGTGTGGGGGACCTGGATACCTTCTCAGGGTGCTCCTCTGTCATGTACCTGCTCCCAGTTGTGTATATCTGCGGCCCTCTGGAGATGCTGCATGAGATCCTGCTTCAGGCCCAGAGGGAGAATCTGACCAATGGGGATTATGTCTTCTTTTACCTGGATGTCTTTGGGGAGAGTCTCCGTGCAGGCCCCACACGTGCTACAGGCCGGCCCTGGCAGGACAATCGCACCCGGGAACAGGCCCAGGCCCTCAGAGAGGCCTTTCAGGTATCATTTGAGCCAAATCTGAAGGAGGAGGGGGAAGAGGTGCTTCGCTGGAAATTCTCTCTCACAAGACCCTAAAGAAACCCTAGGAACCAGGCAGGAATTGTGAGCCACAGGAGTAAAATGAACAGAGGCATTCTGAGTCTAGTGTCACCCTTTCTTACTTCTCTACTTTTGTGACTCTTAGTGTGCTTGCTGCCAAGACTGACTTTGGCTGCCTCCAAAATCCTAAAACACTGACTTTCCTAAGTGCCAGTAGTAGGCTATATTGTGGGGGAGAAAAGTTCAGGAAGAGATCTGATCCTAGCCCTTGGGTGGGCTTCCACCCTTTATGGAGAGGTGAGGCATCGTTCTGGTACAGTCAGACAAAGTTTGAGAAAGGATATGATTATGTGTCCTGGAACAGACACTAAGAACTTTAGTGGCTCAGAGGAGGAAGAGTCAGTGTGGGCTGTGTTTAGGGAAGGCTTTTACACAGGAAGTGAGACCGTATTGTGACTTTAATGATAGATGTCATATTCATAGTCAGAGTGGGAGAGGAGATCCAAGCATCCTGAGCAAAGAGAAAAAGATAGGAATGGGCGTGTTTGAGAGACCAAGAAGATACTGACCCGACAAGAATGAGGGGTTCACTTAAAGGAGATACAGGAAATAAAGTTGCAAAGGTAGAATCAGATTAAGGAGAGCTCTAAGTCTTAAGGCACTAGGACTTGAATTTGGGGTCCTTGACTTTTTGTGTGTGTGTGTGTGTGTGTGGAGATAATTATACAGTAGTGACAGAATTCAGGATTAGAAGAGGGGGAGACCTGGGGCAGTGAGACCAACTGTAACAGATTAGAAGGGGGTGAGGTGATATAGCTTGAACTAGTGTGATGATAGCAGGAATGGAAAGAAACGCATTTCAGATTTCAGAAA
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GATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGTAAGCCGCACTGCCGTCGGGAGGGCGCTATGGTTTGCTAGGTGAGGGGGCTGGTGAGGATACCACACGTCTGGGGATCCTCGACTGCTTCCTGGAGACTGGAACCACTGAGGGACTCAGGGAGTTCAGAGGGGAGACCCAAGAAGAACGGGCTGAGCGAGGGGGAGAGGACAAACCCTGGGGTCGCTGGCGTGTGTGAGATGGAAATGGAAGGAGGGGCGGCAGGGGGACCAGGGGCGTGGGGGAGACCAGGGTAGGCCCTGAGAGTGAGGGAGCGCCCGGGAACCCTGCTGGCCGGCGAGGCCTTGGTGCGGAGCCCCCAAGTGCTCACCGGGGTGGGTTTGGGACCTGGCGGTCCCGAGCGCCCGGGTGGGGGGTGGGGGAAGGCAGCCGGCGCCGGAGGGTGGGGCCGGGAGGGAGGAGGAGAGGCAGCGGGGGAGGGGCGGGGGCGGGCGGCCTGCCCGGGGGAGTCGCACTCGGCCGCCGGCGCAGCGAGCGGAGACGGGCCGGGCCGAGGCGACCTGACCCGGACGAGCGGCGCGCGCGGGGCCCAGGCGGGGGGCGGGAGGAAGCGCCGGGCAGCGCCGGCCGCCAGGGCCCAGGAGAAGCGGAGCAGAGAGGAGCGGGGACACGGGCGGGGCCGCCGTAGCTCCGGATGGGACCAGCGCCCGGGCCCGTTAGTCCAAGCAGGAGCTCCGGGAGAATCCTTCACAGGGAGATTTACCCCTGCCTTCCCCTGCCCTCCGGCCCAGGCCTCGCTTCGCTCCCCGCCTGCCCATGATCCCAGTCCTTCCGCGGCGCGGGCACCCTCCCACCTTACCCCCTTGGTCCTATGTGGCGCAGCGCCCTCCTGCCCTCCCGGCCCTTTCAGCTGTGAGGTTCCCCCAGGCCGTTTCTTTGTACCACCCGCCCCCCACCCCCACCCCATCCCAGTCCCAGATCCCCTTTTCCTTCTCAGCTTTAGATTTATCAGGCTTCTTCACCTCGCACTGTCCCCATCCTGGCCGCAGGCCCCCTCGGTCCCTCCCTCCCCCTGCCACCCCGTTCTCAGTCCTCAGTCCTTGCCCTAGGCTGGTAGCCCACTCCTTGCCCGCCCCCCGCCTTCCTCCCATCTCCCCCTCCTCTCCCCGGCCCCCAGCACCTTCTGCATCCCAGCCTACCTAGCCTACTCCTCCTCTTCCTGGCCCTCTTCCCCAGGCTCCAGGCTGGGGGGTGCTCGCGTCTCCCCTGTAGGCCAGAGCAGCCCCAAGTTCTGGGGGCGGTGGGGCTGCTGCTTTATCCCCATGGCGCTGCCATCACTTCTGCTGTTGGTGGCAGCCCTGGCAGGTGGGGTGCGTCCTCCCGGGGCGCGGAACCTGACGCTGGCGGTGGTGCTGCCAGAACACAACCTGAGCTATGCCTGGGCCTGGCCACGGGTGGGACCCGCTGTGGCACTAGCTGTGGAGGCTCTGGGCCGGGCACTGCCCGTGGACCTGCGGTTTGTCAGCTCCGAACTGGAAGGCGCCTGCTCTGAGTACCTGGCACCGCTGAGCGCTGTGGACCTCAAGCTGTACCATGACCCCGACCTGCTGTTAGGTCCCGGTTGCGTGTACCCTGCTGCCTCTGTGGCCCGCTTTGCCTCCCACTGGCGCCTTCCCCTGCTGACTGCGGGTGCTGTGGCCTCTGGTTTTTCGGCTAAGAATGACCATTATCGTACCCTGGTTCGCACTGGCCCCTCTGCTCCCAAGCTGGGTGAGTTTGTGGTGACACTACACGGGCACTTCAATTGGACTGCCCGTGCTGCCTTGCTGTACCTGGATGCTCGCACAGATGACCGGCCTCACTACTTCACCATCGAGGGCGACTTTGAGGCCCTGCAGGGCAGCAACCTCAGTGTGCAGCACCAGGTGTATGCCCGAGAGCCAGGGGGCCCCGAGCAGGCCACCCACTTCATCCGGGCCAACGGGCGCAGTGAGTGTGGCCTGGGCTATTTTAGGGTCATGGGAGGAGGGTCGCTGTGTCCCTAAAGCTCAGCACTGGGGAACTGTAGATGGAGATAGGCATTGAGCAGCTGTATGTGGTGGTTGGGATCAAGAAGCACACGTGGACAGAGCACCTGTGAGAGGGCCAAGGCTTCATCATGGGAGCTTGTGAACACCCTAGGCAGATGCAAACAAGGAAGAAGAGAGCATGAGGGGTGAAGCCTTGTATCAAGGTGGAATGTGAAAATGAGGGGATATTAAGTTTCGGGAGCAATGTTTGTGCCCTAGAGTAGTGAATGTGATTGATAGCCACTCTGAAATGTGCCCTGTCTGTGATCAGAGCTACCACCCAGACTGGGCGCCAAGACCCCTTGGTGGTGTAAAAATAATGAGGGCTCCATGAACGGACTCAGGGCTCAGCAGATTTGGGAAAGACAGATAAAGCTCATACTGAGAAATCTGTGCTGTCTGTGCCTTTGAGCCCAGGGAAGGGCAGGGAAGAGTCAGGGAGCAGGCCGGTTGGGTGGGGAGCAGCAAGGGAGGCTCTGGGAAAGGGAGGGGCTTGAGAGTGACAGCTCCCTTCCTCTGGGGTCTGGACAGGCTCTGACTTCTGCCAGATGGTCCATATGGCCCCAGGGTACTTATGGTGGACTCCAAGAGGGGTGGGCTGGGGAGCATCTGCTTTGGGGTTGATAGGTTAGGGCACTCTCTTTCTTGCTGAAGAGGGACATCCCAGTGATTCAGAGAGGGGGCTGTGTGGGGGACCTGGATACCTTCTCAGGGTGCTCCTCTGTCATGTACCTGCTCCCAGTTGTGTATATCTGCGGCCCTCTGGAGATGCTGCATGAGATCCTGCTTCAGGCCCAGAGGGAGAATCTGACCAATGGGGATTATGTCTTCTTTTACCTGGATGTCTTTGGGGAGAGTCTCCGTGCAGGCCCCACACGTGCTACAGGCCGGCCCTGGCAGGACAATCGCACCCGGGAACAGGCCCAGGCCCTCAGAGAGGCCTTTCAGGTATCATTTGAGCCAAATCTGAAGGAGGAGGGGGAAGAGGTGCTTCGCTGGAAATTCTCTCTCACAAGACCCTAAAGAAACCCTAGGAACCAGGCAGGAATTGTGAGCCACAGGAGTAAAATGAACAGAGGCATTCTGAGTCTAGTGTCACCCTTTCTTACTTCTCTACTTTTGTGACTCTTAGTGTGCTTGCTGCCAAGACTGACTTTGGCTGCCTCCAAAATCCTAAAACACTGACTTTCCTAAGTGCCAGTAGTAGGCTATATTGTGGGGGAGAAAAGTTCAGGAAGAGATCTGATCCTAGCCCTTGGGTGGGCTTCCACCCTTTATGGAGAGGTGAGGCATCGTTCTGGTACAGTCAGACAAAGTTTGAGAAAGGATATGATTATGTGTCCTGGAACAGACACTAAGAACTTTAGTGGCTCAGAGGAGGAAGAGTCAGTGTGGGCTGTGTTTAGGGAAGGCTTTTACACAGGAAGTGAGACCGTATTGTGACTTTAATGATAGATGTCATATTCATAGTCAGAGTGGGAGAGGAGATCCAAGCATCCTGAGCAAAGAGAAAAAGATAGGAATGGGCGTGTTTGAGAGACCAAGAAGATACTGACCCGACAAGAATGAGGGGTTCACTTAAAGGAGATACAGGAAATAAAGTTGCAAAGGTAGAATCAGATTAAGGAGAGCTCTAAGTCTTAAGGCACTAGGACTTGAATTTGGGGTCCTTGACTTTTTGTGTGTGTGTGTGTGTGTGTGGAGATAATTATACAGTAGTGACAGAATTCAGGATTAGAAGAGGGGGAGACCTGGGGCAGTGAGACCAACTGTAACAGATTAGAAGGGGGTGAGGTGATATAGCTTGAACTAGTGTGATGATAGCAGGAATGGAAAGAAACGCATTTCAGATTTCAGAAA
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Task1_train_12824
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Here is a genetic alteration in NPR2 (natriuretic peptide receptor 2) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Tall stature-scoliosis-macrodactyly of the great toes syndrome
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TGTATTGGTGATCACGTACCGAGAACCCCCAAATCCTGAGTATCAGGAATTCCAGAATCGTCTGCTGATAAGAGCCCGGGAAGACTTTGGTGTGGAGCTGGGCCCTTCCCTGGTAAGTAGATCTCTCCCTTCCTGAGAGTCAGGTCAAGCTTTGGGGAAGGGCTTCTCTCCCAAACTCAGCATCAAGTCTTGGCTGTGGAGCAAGCCCAACTTTGGGGGGTCTCCGCTTCTGTCCAGGATTTTTCCTTCTGCCCTATGGAGTAGTTAGGAAGGGATGGCACTTTAGGAATAAGAGGGAAGAAAGCAAACCAGAAGAGAGAATAGGTAGAAGGGAGACCCCAGAGAGAGGGGAAGGGGCCTTGCAGGACATTTGGAGAGTACTGCTGAAGTTGCCACCCCCAGATGAACCTCATCGCTGGCTGCTTCTATGATGGGATCCTGCTATATGCTGAAGTCCTGAATGAGACAATACAGGAAGGAGGCACCCGGGAGGATGGACTTCGAATTGTGGAAAAGATGCAGGGACGAAGATATCACGGTAATGAAGAGGGGTCAATGGGGGTCTGAGGGCTGATGTCAGGAATAGAGTGGGCTGAAGAAGAAACAGATGTCAGGATCACCACAGCTTTAGTGGGGGTTAGTGAATATGGCAGAGTTGCCCACACCTCAAGATCGGGGAAGGGTAGACTCTGAGGGAGCCGTAGGCATGAGTGAGTGGGAGAGGAGCCCAGGGTAGACCTCAAAGAAAGGACACTCTTTTCTGTCTTAGGTGTAACTGGGCTGGTTGTCATGGACAAGAACAATGACCGAGAGACTGACTTTGTCCTCTGGGCCATGGGAGACCTGGATTCTGGGGACTTTCAGGTGATGGAGGAGGAGGCAGGGAAGAGAGTGTGGCCCTGCAAAATCCAGCTTTCAAGGGTTCAGTCGGGGCAGAACCAAAACTACTAGATGAGGGATTTGTTTTCTCTGCTGGCACTGCATCCTGGCTGGGTGGTAGGCTGGGGAGAAAAGCAGCGAAACAGCTGGGGTCTGGGGAGGAGGCTGGTGGGAGCAGGCCTGTGGGCCCAGCTTTTTGCTTCCTTACAGCCTGCAGCCCACTACTCGGGAGCTGAGAAGCAGATTTGGTGGACGGGACGGCCTATTCCCTGGGTGAAGGGGGCTCCTCCCTCGGACAATCCCCCCTGTGCCTTTGACTTGGACGACCCATCCTGTGATAAAAGTGGGTGTGTGCAGGGACTGGGAGCAGCTTTCCTCCCTTTGCTTTCCATTCATGGCCTCCACCCTCACTGACCCTCCACTCTTAACTGTGCTTCTGCCTTTACGTCTGCATCCCTCCCTCCTCATTTCTTCCTACTCCCAAGGAGTCTGTCTATGCACCTATGCACCCCGTTCTCCATTCTGCCAAGTCCGCACACAGTCTTCCTCAGGGTCTCTATTTCCCCTTCAGCTCCACTTTCAACCCTGGCAATTGTGGCTCTGGGCACAGGAATCACCTTCATCATGTTTGGTGTTTCCAGCTTCCTAATTTTCCGGTGAGTTCTGGGTTTCTTGCTGACCTACTCCCTGCCCCCATTGCCACACAACCTCTGGCTGAAGCCAGGTGGTCCCTATAATGTGGGATAGGGTAGTAGGTTTCTTAATTTGCTGGTTGTCTCTTAGATCCAACAGCGTCTTCCTCTCTAGCCTTTCTCTTTAGTTGTCGCTTAGCCTAGGTGTTTGTTCCACTTTTGGTCCTAGACTGGATATACTAACTAGTGTTTTTCAGTGGGGTTAAGATCAAAGGTGAATTTTCCATTGGTCTTCTTTTAGGAAAGAACTTTCACCCCCAGTCTCTGTGTTTGTTAGTGAGCATAGGGCATGTGCCAGATATGCCGAGAATGCAGCCTTATCTTCCAGCCCTGTCTCTCAGGTGTAACAGTTGCAGCTTCAGGAGCTGCAGGGAAGCCCCTGCAACCCTGCTGTTGGCTTGGGGGTGGCAGGATTCGGCTTGCCAGTCAACTGAGGTGTGCAGTCCTTACAGAAAGCTGATGCTGGAGAAGGAGCTGGCTAGCATGTTGTGGCGTATTCGCTGGGAAGAACTGCAGTTTGGCAACTCAGAGCGTTATCACAAAGGTGCAGGCAGTCGCCTCACACTGTCGCTGGTGAGCCCTTGTCTCAGCTGTTCCTCTGCCTCCCTCTGAGTTCCTGTCCCTTCTTACCCTGGATCTCTCCCAGCACATTGGCTTGTAATGATAGCCCCTGCACTACCACCATCATCTAATGTTCCTTTCATCCTTCCGCCTCCATGTTGCCCTTGGCCCCAGCGGGGATCCAGTTACGGCTCGCTCATGACAGCCCATGGGAAATACCAGATCTTTGCCAACACCGGTCACTTCAAGGTGAACAGTCATTTGCTTGTTCTGGTCCCCACCATTTCATCCTGTCTCATCCCCATCTGCCACCTCTGCCCCTGAACCTCTGTCCCTCATACCCGACTCTCTGTGCCCAGCTGAGCTCCTGGGTGCTTCCACTGCTCTCTAGCATTTCCTTGTACCCAGAACTTCTGATATTCACTTTCCTTTCCCCTTTCACTCCCACCATCAGGGAAATGTTGTCGCCATCAAACATGTGAATAAGAAGCGCATTGAGCTGACCCGGCAGGTTCTGTTTGAACTCAAACATGTATGTAACAGAGGATGGACTCTAACATGTATGTAATGGAGGAGTGGGGAAAACTATGAAATAGTAAAATTGGCTAGATGGGCAAGGGGTTGATTTATAAATGATTTTAAAATCGTAGATACAACTAAGAGAAAGGTCCTCTTATGTAGTGGTAAGTTTCTGTATCTAATTTTTAACTCTTTCAATTTTCTTATCCTTCCCATTGTTTTTTTCTGCCAGATGAGAGATGTTCAGTTCAACCATCTCACTCGCTTCATTGGCGCCTGCATAGACCCTCCCAACATTTGCATTGTCACTGAATACTGTCCTCGTGGGAGTTTACAGGTGAGGGATAGGTGTAGGAGATTATGGCAGGGGTGGGAAGGATAGACCCAAAGTTATACTGACTCTATGCTGGGTGATAGCTGGTGGGACCAGGACAGACAGTCTATTCCATGTCACTTACCAGGATATTCTAGAAAATGACAGCATCAACTTGGACTGGATGTTTCGTTATTCACTCATTAATGACCTTGTTAAGGTGAGTCTTCCCCACTCCTTAAAAGTTCATCCACTTTAAATCACTTCCACTGTTCTTTGATTGTGGTTTTTCTCCTTCTAGTCCTCTGAAGTCCTGTTCTCTCATCTCCCCTTATTCCCATGGTCTGGTAATAATGGGTAAACAAGGAGTCTGGGGCTTATAACTGGGACAGTGAGTTTTACCTGCCACAAGGAGTCCTGTGCCTGTAGAGAGTTTCTATCTTTCTGTCTTAAATATCTCAGGTCTCTTTCCATCATCTCTTTTACCTCTAAGAACTCATAAAATGAGTGGAGTCTCTGAACATATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAACATATTTATCTCTTGTTTTTCCTCTCATTATTTTACTCTCCGAACATATTTATCTCCTGTTTTTCCTCTCATTATTTTACTCTCTGACCAATATTTGGCATGTCTGCCCTTTTGTTCAGAAAACTGAAATTTAAAAAAGGAACATTTACTAGTAGAACTAAGAGAAACCAAGGAAGATTGTACTAAAAACCTTTGGTACTCTTCTGTTATACTAGGTTTTAGCTATGTTCAAATGACTCAGAGGCCCATGGATTTGTGGAGCATAAAATAGAATCTTGCATGAGTTGGACAGGTTTTCTGAAATAAGT
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TGTATTGGTGATCACGTACCGAGAACCCCCAAATCCTGAGTATCAGGAATTCCAGAATCGTCTGCTGATAAGAGCCCGGGAAGACTTTGGTGTGGAGCTGGGCCCTTCCCTGGTAAGTAGATCTCTCCCTTCCTGAGAGTCAGGTCAAGCTTTGGGGAAGGGCTTCTCTCCCAAACTCAGCATCAAGTCTTGGCTGTGGAGCAAGCCCAACTTTGGGGGGTCTCCGCTTCTGTCCAGGATTTTTCCTTCTGCCCTATGGAGTAGTTAGGAAGGGATGGCACTTTAGGAATAAGAGGGAAGAAAGCAAACCAGAAGAGAGAATAGGTAGAAGGGAGACCCCAGAGAGAGGGGAAGGGGCCTTGCAGGACATTTGGAGAGTACTGCTGAAGTTGCCACCCCCAGATGAACCTCATCGCTGGCTGCTTCTATGATGGGATCCTGCTATATGCTGAAGTCCTGAATGAGACAATACAGGAAGGAGGCACCCGGGAGGATGGACTTCGAATTGTGGAAAAGATGCAGGGACGAAGATATCACGGTAATGAAGAGGGGTCAATGGGGGTCTGAGGGCTGATGTCAGGAATAGAGTGGGCTGAAGAAGAAACAGATGTCAGGATCACCACAGCTTTAGTGGGGGTTAGTGAATATGGCAGAGTTGCCCACACCTCAAGATCGGGGAAGGGTAGACTCTGAGGGAGCCGTAGGCATGAGTGAGTGGGAGAGGAGCCCAGGGTAGACCTCAAAGAAAGGACACTCTTTTCTGTCTTAGGTGTAACTGGGCTGGTTGTCATGGACAAGAACAATGACCGAGAGACTGACTTTGTCCTCTGGGCCATGGGAGACCTGGATTCTGGGGACTTTCAGGTGATGGAGGAGGAGGCAGGGAAGAGAGTGTGGCCCTGCAAAATCCAGCTTTCAAGGGTTCAGTCGGGGCAGAACCAAAACTACTAGATGAGGGATTTGTTTTCTCTGCTGGCACTGCATCCTGGCTGGGTGGTAGGCTGGGGAGAAAAGCAGCGAAACAGCTGGGGTCTGGGGAGGAGGCTGGTGGGAGCAGGCCTGTGGGCCCAGCTTTTTGCTTCCTTACAGCCTGCAGCCCACTACTCGGGAGCTGAGAAGCAGATTTGGTGGACGGGACGGCCTATTCCCTGGGTGAAGGGGGCTCCTCCCTCGGACAATCCCCCCTGTGCCTTTGACTTGGACGACCCATCCTGTGATAAAAGTGGGTGTGTGCAGGGACTGGGAGCAGCTTTCCTCCCTTTGCTTTCCATTCATGGCCTCCACCCTCACTGACCCTCCACTCTTAACTGTGCTTCTGCCTTTACGTCTGCATCCCTCCCTCCTCATTTCTTCCTACTCCCAAGGAGTCTGTCTATGCACCTATGCACCCCGTTCTCCATTCTGCCAAGTCCGCACACAGTCTTCCTCAGGGTCTCTATTTCCCCTTCAGCTCCACTTTCAACCCTGGCAATTGTGGCTCTGGGCACAGGAATCACCTTCATCATGTTTGGTGTTTCCAGCTTCCTAATTTTCCGGTGAGTTCTGGGTTTCTTGCTGACCTACTCCCTGCCCCCATTGCCACACAACCTCTGGCTGAAGCCAGGTGGTCCCTATAATGTGGGATAGGGTAGTAGGTTTCTTAATTTGCTGGTTGTCTCTTAGATCCAACAGCGTCTTCCTCTCTAGCCTTTCTCTTTAGTTGTCGCTTAGCCTAGGTGTTTGTTCCACTTTTGGTCCTAGACTGGATATACTAACTAGTGTTTTTCAGTGGGGTTAAGATCAAAGGTGAATTTTCCATTGGTCTTCTTTTAGGAAAGAACTTTCACCCCCAGTCTCTGTGTTTGTTAGTGAGCATAGGGCATGTGCCAGATATGCCGAGAATGCAGCCTTATCTTCCAGCCCTGTCTCTCAGGTGTAACAGTTGCAGCTTCAGGAGCTGCAGGGAAGCCCCTGCAACCCTGCTGTTGGCTTGGGGGTGGCAGGATTCGGCTTGCCAGTCAACTGAGGTGTGCAGTCCTTACAGAAAGCTGATGCTGGAGAAGGAGCTGCCTAGCATGTTGTGGCGTATTCGCTGGGAAGAACTGCAGTTTGGCAACTCAGAGCGTTATCACAAAGGTGCAGGCAGTCGCCTCACACTGTCGCTGGTGAGCCCTTGTCTCAGCTGTTCCTCTGCCTCCCTCTGAGTTCCTGTCCCTTCTTACCCTGGATCTCTCCCAGCACATTGGCTTGTAATGATAGCCCCTGCACTACCACCATCATCTAATGTTCCTTTCATCCTTCCGCCTCCATGTTGCCCTTGGCCCCAGCGGGGATCCAGTTACGGCTCGCTCATGACAGCCCATGGGAAATACCAGATCTTTGCCAACACCGGTCACTTCAAGGTGAACAGTCATTTGCTTGTTCTGGTCCCCACCATTTCATCCTGTCTCATCCCCATCTGCCACCTCTGCCCCTGAACCTCTGTCCCTCATACCCGACTCTCTGTGCCCAGCTGAGCTCCTGGGTGCTTCCACTGCTCTCTAGCATTTCCTTGTACCCAGAACTTCTGATATTCACTTTCCTTTCCCCTTTCACTCCCACCATCAGGGAAATGTTGTCGCCATCAAACATGTGAATAAGAAGCGCATTGAGCTGACCCGGCAGGTTCTGTTTGAACTCAAACATGTATGTAACAGAGGATGGACTCTAACATGTATGTAATGGAGGAGTGGGGAAAACTATGAAATAGTAAAATTGGCTAGATGGGCAAGGGGTTGATTTATAAATGATTTTAAAATCGTAGATACAACTAAGAGAAAGGTCCTCTTATGTAGTGGTAAGTTTCTGTATCTAATTTTTAACTCTTTCAATTTTCTTATCCTTCCCATTGTTTTTTTCTGCCAGATGAGAGATGTTCAGTTCAACCATCTCACTCGCTTCATTGGCGCCTGCATAGACCCTCCCAACATTTGCATTGTCACTGAATACTGTCCTCGTGGGAGTTTACAGGTGAGGGATAGGTGTAGGAGATTATGGCAGGGGTGGGAAGGATAGACCCAAAGTTATACTGACTCTATGCTGGGTGATAGCTGGTGGGACCAGGACAGACAGTCTATTCCATGTCACTTACCAGGATATTCTAGAAAATGACAGCATCAACTTGGACTGGATGTTTCGTTATTCACTCATTAATGACCTTGTTAAGGTGAGTCTTCCCCACTCCTTAAAAGTTCATCCACTTTAAATCACTTCCACTGTTCTTTGATTGTGGTTTTTCTCCTTCTAGTCCTCTGAAGTCCTGTTCTCTCATCTCCCCTTATTCCCATGGTCTGGTAATAATGGGTAAACAAGGAGTCTGGGGCTTATAACTGGGACAGTGAGTTTTACCTGCCACAAGGAGTCCTGTGCCTGTAGAGAGTTTCTATCTTTCTGTCTTAAATATCTCAGGTCTCTTTCCATCATCTCTTTTACCTCTAAGAACTCATAAAATGAGTGGAGTCTCTGAACATATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAACATATTTATCTCTTGTTTTTCCTCTCATTATTTTACTCTCCGAACATATTTATCTCCTGTTTTTCCTCTCATTATTTTACTCTCTGACCAATATTTGGCATGTCTGCCCTTTTGTTCAGAAAACTGAAATTTAAAAAAGGAACATTTACTAGTAGAACTAAGAGAAACCAAGGAAGATTGTACTAAAAACCTTTGGTACTCTTCTGTTATACTAGGTTTTAGCTATGTTCAAATGACTCAGAGGCCCATGGATTTGTGGAGCATAAAATAGAATCTTGCATGAGTTGGACAGGTTTTCTGAAATAAGT
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Task1_train_12825
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The gene NPR2 (natriuretic peptide receptor 2) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Disproportionate short stature
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ACTTTAGGAATAAGAGGGAAGAAAGCAAACCAGAAGAGAGAATAGGTAGAAGGGAGACCCCAGAGAGAGGGGAAGGGGCCTTGCAGGACATTTGGAGAGTACTGCTGAAGTTGCCACCCCCAGATGAACCTCATCGCTGGCTGCTTCTATGATGGGATCCTGCTATATGCTGAAGTCCTGAATGAGACAATACAGGAAGGAGGCACCCGGGAGGATGGACTTCGAATTGTGGAAAAGATGCAGGGACGAAGATATCACGGTAATGAAGAGGGGTCAATGGGGGTCTGAGGGCTGATGTCAGGAATAGAGTGGGCTGAAGAAGAAACAGATGTCAGGATCACCACAGCTTTAGTGGGGGTTAGTGAATATGGCAGAGTTGCCCACACCTCAAGATCGGGGAAGGGTAGACTCTGAGGGAGCCGTAGGCATGAGTGAGTGGGAGAGGAGCCCAGGGTAGACCTCAAAGAAAGGACACTCTTTTCTGTCTTAGGTGTAACTGGGCTGGTTGTCATGGACAAGAACAATGACCGAGAGACTGACTTTGTCCTCTGGGCCATGGGAGACCTGGATTCTGGGGACTTTCAGGTGATGGAGGAGGAGGCAGGGAAGAGAGTGTGGCCCTGCAAAATCCAGCTTTCAAGGGTTCAGTCGGGGCAGAACCAAAACTACTAGATGAGGGATTTGTTTTCTCTGCTGGCACTGCATCCTGGCTGGGTGGTAGGCTGGGGAGAAAAGCAGCGAAACAGCTGGGGTCTGGGGAGGAGGCTGGTGGGAGCAGGCCTGTGGGCCCAGCTTTTTGCTTCCTTACAGCCTGCAGCCCACTACTCGGGAGCTGAGAAGCAGATTTGGTGGACGGGACGGCCTATTCCCTGGGTGAAGGGGGCTCCTCCCTCGGACAATCCCCCCTGTGCCTTTGACTTGGACGACCCATCCTGTGATAAAAGTGGGTGTGTGCAGGGACTGGGAGCAGCTTTCCTCCCTTTGCTTTCCATTCATGGCCTCCACCCTCACTGACCCTCCACTCTTAACTGTGCTTCTGCCTTTACGTCTGCATCCCTCCCTCCTCATTTCTTCCTACTCCCAAGGAGTCTGTCTATGCACCTATGCACCCCGTTCTCCATTCTGCCAAGTCCGCACACAGTCTTCCTCAGGGTCTCTATTTCCCCTTCAGCTCCACTTTCAACCCTGGCAATTGTGGCTCTGGGCACAGGAATCACCTTCATCATGTTTGGTGTTTCCAGCTTCCTAATTTTCCGGTGAGTTCTGGGTTTCTTGCTGACCTACTCCCTGCCCCCATTGCCACACAACCTCTGGCTGAAGCCAGGTGGTCCCTATAATGTGGGATAGGGTAGTAGGTTTCTTAATTTGCTGGTTGTCTCTTAGATCCAACAGCGTCTTCCTCTCTAGCCTTTCTCTTTAGTTGTCGCTTAGCCTAGGTGTTTGTTCCACTTTTGGTCCTAGACTGGATATACTAACTAGTGTTTTTCAGTGGGGTTAAGATCAAAGGTGAATTTTCCATTGGTCTTCTTTTAGGAAAGAACTTTCACCCCCAGTCTCTGTGTTTGTTAGTGAGCATAGGGCATGTGCCAGATATGCCGAGAATGCAGCCTTATCTTCCAGCCCTGTCTCTCAGGTGTAACAGTTGCAGCTTCAGGAGCTGCAGGGAAGCCCCTGCAACCCTGCTGTTGGCTTGGGGGTGGCAGGATTCGGCTTGCCAGTCAACTGAGGTGTGCAGTCCTTACAGAAAGCTGATGCTGGAGAAGGAGCTGGCTAGCATGTTGTGGCGTATTCGCTGGGAAGAACTGCAGTTTGGCAACTCAGAGCGTTATCACAAAGGTGCAGGCAGTCGCCTCACACTGTCGCTGGTGAGCCCTTGTCTCAGCTGTTCCTCTGCCTCCCTCTGAGTTCCTGTCCCTTCTTACCCTGGATCTCTCCCAGCACATTGGCTTGTAATGATAGCCCCTGCACTACCACCATCATCTAATGTTCCTTTCATCCTTCCGCCTCCATGTTGCCCTTGGCCCCAGCGGGGATCCAGTTACGGCTCGCTCATGACAGCCCATGGGAAATACCAGATCTTTGCCAACACCGGTCACTTCAAGGTGAACAGTCATTTGCTTGTTCTGGTCCCCACCATTTCATCCTGTCTCATCCCCATCTGCCACCTCTGCCCCTGAACCTCTGTCCCTCATACCCGACTCTCTGTGCCCAGCTGAGCTCCTGGGTGCTTCCACTGCTCTCTAGCATTTCCTTGTACCCAGAACTTCTGATATTCACTTTCCTTTCCCCTTTCACTCCCACCATCAGGGAAATGTTGTCGCCATCAAACATGTGAATAAGAAGCGCATTGAGCTGACCCGGCAGGTTCTGTTTGAACTCAAACATGTATGTAACAGAGGATGGACTCTAACATGTATGTAATGGAGGAGTGGGGAAAACTATGAAATAGTAAAATTGGCTAGATGGGCAAGGGGTTGATTTATAAATGATTTTAAAATCGTAGATACAACTAAGAGAAAGGTCCTCTTATGTAGTGGTAAGTTTCTGTATCTAATTTTTAACTCTTTCAATTTTCTTATCCTTCCCATTGTTTTTTTCTGCCAGATGAGAGATGTTCAGTTCAACCATCTCACTCGCTTCATTGGCGCCTGCATAGACCCTCCCAACATTTGCATTGTCACTGAATACTGTCCTCGTGGGAGTTTACAGGTGAGGGATAGGTGTAGGAGATTATGGCAGGGGTGGGAAGGATAGACCCAAAGTTATACTGACTCTATGCTGGGTGATAGCTGGTGGGACCAGGACAGACAGTCTATTCCATGTCACTTACCAGGATATTCTAGAAAATGACAGCATCAACTTGGACTGGATGTTTCGTTATTCACTCATTAATGACCTTGTTAAGGTGAGTCTTCCCCACTCCTTAAAAGTTCATCCACTTTAAATCACTTCCACTGTTCTTTGATTGTGGTTTTTCTCCTTCTAGTCCTCTGAAGTCCTGTTCTCTCATCTCCCCTTATTCCCATGGTCTGGTAATAATGGGTAAACAAGGAGTCTGGGGCTTATAACTGGGACAGTGAGTTTTACCTGCCACAAGGAGTCCTGTGCCTGTAGAGAGTTTCTATCTTTCTGTCTTAAATATCTCAGGTCTCTTTCCATCATCTCTTTTACCTCTAAGAACTCATAAAATGAGTGGAGTCTCTGAACATATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAACATATTTATCTCTTGTTTTTCCTCTCATTATTTTACTCTCCGAACATATTTATCTCCTGTTTTTCCTCTCATTATTTTACTCTCTGACCAATATTTGGCATGTCTGCCCTTTTGTTCAGAAAACTGAAATTTAAAAAAGGAACATTTACTAGTAGAACTAAGAGAAACCAAGGAAGATTGTACTAAAAACCTTTGGTACTCTTCTGTTATACTAGGTTTTAGCTATGTTCAAATGACTCAGAGGCCCATGGATTTGTGGAGCATAAAATAGAATCTTGCATGAGTTGGACAGGTTTTCTGAAATAAGTCTCATAGCCAATGAGCATCCCAGTGGATCACCCCACACTGTATCTGAAACTAGCTTTGGTTTTCTGCTGAATTCTCATGAAGTTATTTAAAAAGTATTTTTTTGTGTGTGAAAATTTGCTATCAAATGAGAGATAAAAATATTAGTAAAGCCAATGTCATGCTCAACTAGAGGTGTGATGATAAACATAAGACACGACTCTTGAGAGAACAGTGATTTGGTGGAAAAGTGATTTACAACAAAGCCAGAAGCCTAATCCTGTGATTGTTGAAGGCATCCT
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ACTTTAGGAATAAGAGGGAAGAAAGCAAACCAGAAGAGAGAATAGGTAGAAGGGAGACCCCAGAGAGAGGGGAAGGGGCCTTGCAGGACATTTGGAGAGTACTGCTGAAGTTGCCACCCCCAGATGAACCTCATCGCTGGCTGCTTCTATGATGGGATCCTGCTATATGCTGAAGTCCTGAATGAGACAATACAGGAAGGAGGCACCCGGGAGGATGGACTTCGAATTGTGGAAAAGATGCAGGGACGAAGATATCACGGTAATGAAGAGGGGTCAATGGGGGTCTGAGGGCTGATGTCAGGAATAGAGTGGGCTGAAGAAGAAACAGATGTCAGGATCACCACAGCTTTAGTGGGGGTTAGTGAATATGGCAGAGTTGCCCACACCTCAAGATCGGGGAAGGGTAGACTCTGAGGGAGCCGTAGGCATGAGTGAGTGGGAGAGGAGCCCAGGGTAGACCTCAAAGAAAGGACACTCTTTTCTGTCTTAGGTGTAACTGGGCTGGTTGTCATGGACAAGAACAATGACCGAGAGACTGACTTTGTCCTCTGGGCCATGGGAGACCTGGATTCTGGGGACTTTCAGGTGATGGAGGAGGAGGCAGGGAAGAGAGTGTGGCCCTGCAAAATCCAGCTTTCAAGGGTTCAGTCGGGGCAGAACCAAAACTACTAGATGAGGGATTTGTTTTCTCTGCTGGCACTGCATCCTGGCTGGGTGGTAGGCTGGGGAGAAAAGCAGCGAAACAGCTGGGGTCTGGGGAGGAGGCTGGTGGGAGCAGGCCTGTGGGCCCAGCTTTTTGCTTCCTTACAGCCTGCAGCCCACTACTCGGGAGCTGAGAAGCAGATTTGGTGGACGGGACGGCCTATTCCCTGGGTGAAGGGGGCTCCTCCCTCGGACAATCCCCCCTGTGCCTTTGACTTGGACGACCCATCCTGTGATAAAAGTGGGTGTGTGCAGGGACTGGGAGCAGCTTTCCTCCCTTTGCTTTCCATTCATGGCCTCCACCCTCACTGACCCTCCACTCTTAACTGTGCTTCTGCCTTTACGTCTGCATCCCTCCCTCCTCATTTCTTCCTACTCCCAAGGAGTCTGTCTATGCACCTATGCACCCCGTTCTCCATTCTGCCAAGTCCGCACACAGTCTTCCTCAGGGTCTCTATTTCCCCTTCAGCTCCACTTTCAACCCTGGCAATTGTGGCTCTGGGCACAGGAATCACCTTCATCATGTTTGGTGTTTCCAGCTTCCTAATTTTCCGGTGAGTTCTGGGTTTCTTGCTGACCTACTCCCTGCCCCCATTGCCACACAACCTCTGGCTGAAGCCAGGTGGTCCCTATAATGTGGGATAGGGTAGTAGGTTTCTTAATTTGCTGGTTGTCTCTTAGATCCAACAGCGTCTTCCTCTCTAGCCTTTCTCTTTAGTTGTCGCTTAGCCTAGGTGTTTGTTCCACTTTTGGTCCTAGACTGGATATACTAACTAGTGTTTTTCAGTGGGGTTAAGATCAAAGGTGAATTTTCCATTGGTCTTCTTTTAGGAAAGAACTTTCACCCCCAGTCTCTGTGTTTGTTAGTGAGCATAGGGCATGTGCCAGATATGCCGAGAATGCAGCCTTATCTTCCAGCCCTGTCTCTCAGGTGTAACAGTTGCAGCTTCAGGAGCTGCAGGGAAGCCCCTGCAACCCTGCTGTTGGCTTGGGGGTGGCAGGATTCGGCTTGCCAGTCAACTGAGGTGTGCAGTCCTTACAGAAAGCTGATGCTGGAGAAGGAGCTGGCTAGCATGTTGTGGCGTATTCGCTGGGAAGAACTGCAGTTTGGCAACTCAGAGCGTTATCACAAAGGTGCAGGCAGTCGCCTCACACTGTCGCTGGTGAGCCCTTGTCTCAGCTGTTCCTCTGCCTCCCTCTGAGTTCCTGTCCCTTCTTACCCTGGATCTCTCCCAGCACATTGGCTTGTAATGATAGCCCCTGCACTACCACCATCATCTAATGTTCCTTTCATCCTTCCGCCTCCATGTTGCCCTTGGCCCCAGCGGGGATCCAGTTACGGCTCGTTCATGACAGCCCATGGGAAATACCAGATCTTTGCCAACACCGGTCACTTCAAGGTGAACAGTCATTTGCTTGTTCTGGTCCCCACCATTTCATCCTGTCTCATCCCCATCTGCCACCTCTGCCCCTGAACCTCTGTCCCTCATACCCGACTCTCTGTGCCCAGCTGAGCTCCTGGGTGCTTCCACTGCTCTCTAGCATTTCCTTGTACCCAGAACTTCTGATATTCACTTTCCTTTCCCCTTTCACTCCCACCATCAGGGAAATGTTGTCGCCATCAAACATGTGAATAAGAAGCGCATTGAGCTGACCCGGCAGGTTCTGTTTGAACTCAAACATGTATGTAACAGAGGATGGACTCTAACATGTATGTAATGGAGGAGTGGGGAAAACTATGAAATAGTAAAATTGGCTAGATGGGCAAGGGGTTGATTTATAAATGATTTTAAAATCGTAGATACAACTAAGAGAAAGGTCCTCTTATGTAGTGGTAAGTTTCTGTATCTAATTTTTAACTCTTTCAATTTTCTTATCCTTCCCATTGTTTTTTTCTGCCAGATGAGAGATGTTCAGTTCAACCATCTCACTCGCTTCATTGGCGCCTGCATAGACCCTCCCAACATTTGCATTGTCACTGAATACTGTCCTCGTGGGAGTTTACAGGTGAGGGATAGGTGTAGGAGATTATGGCAGGGGTGGGAAGGATAGACCCAAAGTTATACTGACTCTATGCTGGGTGATAGCTGGTGGGACCAGGACAGACAGTCTATTCCATGTCACTTACCAGGATATTCTAGAAAATGACAGCATCAACTTGGACTGGATGTTTCGTTATTCACTCATTAATGACCTTGTTAAGGTGAGTCTTCCCCACTCCTTAAAAGTTCATCCACTTTAAATCACTTCCACTGTTCTTTGATTGTGGTTTTTCTCCTTCTAGTCCTCTGAAGTCCTGTTCTCTCATCTCCCCTTATTCCCATGGTCTGGTAATAATGGGTAAACAAGGAGTCTGGGGCTTATAACTGGGACAGTGAGTTTTACCTGCCACAAGGAGTCCTGTGCCTGTAGAGAGTTTCTATCTTTCTGTCTTAAATATCTCAGGTCTCTTTCCATCATCTCTTTTACCTCTAAGAACTCATAAAATGAGTGGAGTCTCTGAACATATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAACATATTTATCTCTTGTTTTTCCTCTCATTATTTTACTCTCCGAACATATTTATCTCCTGTTTTTCCTCTCATTATTTTACTCTCTGACCAATATTTGGCATGTCTGCCCTTTTGTTCAGAAAACTGAAATTTAAAAAAGGAACATTTACTAGTAGAACTAAGAGAAACCAAGGAAGATTGTACTAAAAACCTTTGGTACTCTTCTGTTATACTAGGTTTTAGCTATGTTCAAATGACTCAGAGGCCCATGGATTTGTGGAGCATAAAATAGAATCTTGCATGAGTTGGACAGGTTTTCTGAAATAAGTCTCATAGCCAATGAGCATCCCAGTGGATCACCCCACACTGTATCTGAAACTAGCTTTGGTTTTCTGCTGAATTCTCATGAAGTTATTTAAAAAGTATTTTTTTGTGTGTGAAAATTTGCTATCAAATGAGAGATAAAAATATTAGTAAAGCCAATGTCATGCTCAACTAGAGGTGTGATGATAAACATAAGACACGACTCTTGAGAGAACAGTGATTTGGTGGAAAAGTGATTTACAACAAAGCCAGAAGCCTAATCCTGTGATTGTTGAAGGCATCCT
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Task1_train_12826
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This is a variant in NPR2 (natriuretic peptide receptor 2), located on Chromosome 9. Is this mutation a likely cause of disease or not?
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Pathogenic; Tall stature-scoliosis-macrodactyly of the great toes syndrome
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TTAAAAAAGGAACATTTACTAGTAGAACTAAGAGAAACCAAGGAAGATTGTACTAAAAACCTTTGGTACTCTTCTGTTATACTAGGTTTTAGCTATGTTCAAATGACTCAGAGGCCCATGGATTTGTGGAGCATAAAATAGAATCTTGCATGAGTTGGACAGGTTTTCTGAAATAAGTCTCATAGCCAATGAGCATCCCAGTGGATCACCCCACACTGTATCTGAAACTAGCTTTGGTTTTCTGCTGAATTCTCATGAAGTTATTTAAAAAGTATTTTTTTGTGTGTGAAAATTTGCTATCAAATGAGAGATAAAAATATTAGTAAAGCCAATGTCATGCTCAACTAGAGGTGTGATGATAAACATAAGACACGACTCTTGAGAGAACAGTGATTTGGTGGAAAAGTGATTTACAACAAAGCCAGAAGCCTAATCCTGTGATTGTTGAAGGCATCCTTTGCACAGTTTCCACACAAGTAAATTCACAACTTCAGAGATTCCCAAAAGTTTTGTTGATACCAAAATAAATAAAAAGGAAGAATTCATAGAGATTAGAGTTATGAATTAAGTCCAGAGCTAAACATTTAGACAGAAATGTTTTTTGTTAGCATATTGAACCTTGTATCCTCTTTCTGTCTCACCTGAACTGACTTGGGTGGCTCCTAGGGTTTCATTTTTGGGGAGCATCATTAAGACTTTTTTTTTTTTTTTTCTGAGACAGGGTCTTATTCTGTCACCCAGGCTAGAGTGTAGTGGCTAGGTCACTGCTCACTGCAGCTTCGACCTCCTGGGCTCAAGTGATTCTCCCATCTTAGCCTCCTGAGTAGCTGGGACCACAGCGTGTGCTGCAGTGCCCGGCTCATTTTTATATTTTTGGTAGAGGTGGGGTTTCGCCATGTTGCTGAGGCTGGTCTTGAACTGCTGGGCTCAAGCAATCTGCCAGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCGGCCTTTAAGACTGTCTTTCAGCTCCTCGGAGGCAAAGGTTTTTCCCTCTCTGGACCCACAGAGCCAGCAGTTTTAGGCTTCTGCACTGGCTTAGCAGATTTTGTCCATTTTCCAGGTTTATGATGTTCTGCACTTTCTCTCTGATCCAGCATTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACTTGCCCACCTCCCTCTAGTAGATCTTATTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCTTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACTTGCCCACCTACGCCTGGTTATGCATTAAAGTTTACAACTGGTCTTCCTTGGTATATCCAGCTACTCTTGATACCTGGGTCTCAAGTCATGTCTTCCTAATTAGTAGCCAGGTATCTGAGGCCACCATGGGTGTTATATCATTTTGGTCTTCACCCAAGTTCTGTTCTCTTCACTAATCAAGAAGATTGACTGCCCTCTCCAGGGTAGTCATTTGTAGCTCCACTTATCCCTCTTTTTAAGCATTTTCCCTGTCCCTGGTGGCTGGGTGCCTGTGTCCTGCTTATGATACCAGGAACAGATGACTCTTCTGTTCTTCCTGCTTCCTTGGGTGGAAACTGCAAAGGATGCCTTCCAAAATCAGCTTATTATTTTTGTGGACCCAAGATCTGTAGACAGCTAGCCAGTGCCCATCTCATGGAGAGAGGGTATTCTAAGCCAGATATGATCCAATCCCATGACTTGATCTGTACCCTGCAGGGCATGGCCTTTCTCCACAACAGCATTATTTCATCGCATGGGAGTCTCAAGTCCTCCAACTGTGTGGTGGATAGTCGTTTTGTGCTCAAAATCACAGACTATGGCCTGGCCAGCTTCCGATCAACTGCTGAACCTGATGACAGCCATGCCCTCTATGCCAGTGAGGCCCACCCCCACAACCCACTTTTTATATTGCTCCTCTTTCCACCTAGGGATGGTGGGAGAGGGAGGTGGAGTGACAGTAATATAGGGATGAGCCCAGGTGGGCTTGGGGGTGCCCCATTTCGGGGGACCTGGCCAGCCGGTTTCCTCTTTTCAGAGAAGCTGTGGACTGCCCCAGAACTGCTCAGTGGGAACCCCTTGCCAACCACAGGCATGCAGAAGGCTGACGTCTATAGCTTTGGGATCATCCTGCAGGAGATAGCACTTCGCAGTGGTCCTTTCTACTTGGAGGGCCTGGACCTCAGCCCCAAAGGTAAGAGTCAATCCACTACCCACAGCCTCTTCTTCCTGGGGGAACTCTGTTCTTCATCCAAACCTTTGATCACCCTCAGAGATTGTCCAGAAGGTACGAAATGGTCAGCGGCCATATTTCCGGCCAAGCATTGACCGGACCCAACTGAATGAAGAGCTAGTTTTGCTGATGGAGCGATGTTGGGCTCAGGACCCAGCTGAGCGGCCAGACTTTGGACAGATTAAGGGCTTCATTCGGCGCTTTAACAAGTGAGAGGGCATTATGGGGCAGGGGCTTCCCAGGGATAGAAGACTCATTAGTCCTAGTGCATGAAGTGGGGCAGGTGGGACCAGAGGGTGGGTTGGATAGGAAGTCCTGGGAATCTTCAGAATCTTAGAGCAAGTGCCTTATCCTGGCCTCCCTCTAGGGAGGGTGGCACCAGCATATTGGACAACCTCCTGCTGCGCATGGAACAGTATGCCAATAACTTGGAGAAGCTGGTGGAGGAACGCACACAGGCCTATCTGGAGGAAAAACGCAAGGCTGAAGCTCTGCTCTACCAAATCCTACCCCAGTGAGACTTTGTCCCCCTTCCTGTATTTTCTTTTGGGATTCTGCTCTGTTGGGCTCTGCCTCATCAGGCACCTGAGAACTCGCCTCCCCACCCTCAGAACCCTGCTGGCCACAGGGAGCACCCCTGCTTATAGATTATTTGCTGTCATTCTGTCTCCACATCAGCTATGCTGCCTTCTTACTGGCTGCCCATCCCTTCTTCTTAAGACCCTGCTCTACCACACCCTTGCTTCAGCAAGTGTATGTAAAACAGTCCCAACTTGAGACAGCTCCCATGCACAGGGATTCCCCTCAAACCCCCCCGCCACTTGTGTGCCTTACCTTGCATTAGACTGTAATGTCTTCCCAGCCACTTTCCTCCCTCCCACCTGAAAAGCCTAGCTTTCTTGTTACAGCTCATCTCTGCTGCAGCCACATACACTTTCCCTCTCTCTTCCACTCCTGCTCTCTTGGAGTTTGGCTCATACGGCACCCTTGCTTCCTAGTTCAGTGGCAGAGCAGTTAAAACGGGGAGAGACTGTACAGGCTGAGGCCTTTGACAGTGTTACCATCTACTTCAGTGACATTGTTGGCTTCACAGCATTGTCAGCAGAGAGCACCCCCATGCAGGTGAGAGCCATGGGTGAGAGGTGGCGGGTGGGGTTGGGTGGGTAGGGACCTGGGGAAGCCTCATTGATAATAGGAAAGATGAGTTTGTTCTAGAGTTCCCACATCTTTTGATGGCTTGTGGGTTAAGAATTCTTAGAAAATTGGGCACAAGTCTCAGGGCCTCTGCTTTTCTATCCCTTTTAGGTAGTGACACTTCTTAATGACCTGTATACCTGCTTTGATGCCATAATTGACAACTTTGATGTCTACAAGGTGAGAGCTGGGGCCGCTGTTCAATAGAAGACCCTTTAATAGAGACCCGCTTTGAAACTCAGTCTCCCTGAACCCCACACACCTTACCCACCCCATGATCAGTTTTCCCTCCAGGGTACTCAGCATCCTGGTGCTGGAGTGTACTTCGTAGACAGATGTAGCTCCAGCACTATAATTGTACACTCCAGTCGAATTTCTTGTGAATCCTTTGACTTCCCTAATCAGAACCATCATG
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TTAAAAAAGGAACATTTACTAGTAGAACTAAGAGAAACCAAGGAAGATTGTACTAAAAACCTTTGGTACTCTTCTGTTATACTAGGTTTTAGCTATGTTCAAATGACTCAGAGGCCCATGGATTTGTGGAGCATAAAATAGAATCTTGCATGAGTTGGACAGGTTTTCTGAAATAAGTCTCATAGCCAATGAGCATCCCAGTGGATCACCCCACACTGTATCTGAAACTAGCTTTGGTTTTCTGCTGAATTCTCATGAAGTTATTTAAAAAGTATTTTTTTGTGTGTGAAAATTTGCTATCAAATGAGAGATAAAAATATTAGTAAAGCCAATGTCATGCTCAACTAGAGGTGTGATGATAAACATAAGACACGACTCTTGAGAGAACAGTGATTTGGTGGAAAAGTGATTTACAACAAAGCCAGAAGCCTAATCCTGTGATTGTTGAAGGCATCCTTTGCACAGTTTCCACACAAGTAAATTCACAACTTCAGAGATTCCCAAAAGTTTTGTTGATACCAAAATAAATAAAAAGGAAGAATTCATAGAGATTAGAGTTATGAATTAAGTCCAGAGCTAAACATTTAGACAGAAATGTTTTTTGTTAGCATATTGAACCTTGTATCCTCTTTCTGTCTCACCTGAACTGACTTGGGTGGCTCCTAGGGTTTCATTTTTGGGGAGCATCATTAAGACTTTTTTTTTTTTTTTTCTGAGACAGGGTCTTATTCTGTCACCCAGGCTAGAGTGTAGTGGCTAGGTCACTGCTCACTGCAGCTTCGACCTCCTGGGCTCAAGTGATTCTCCCATCTTAGCCTCCTGAGTAGCTGGGACCACAGCGTGTGCTGCAGTGCCCGGCTCATTTTTATATTTTTGGTAGAGGTGGGGTTTCGCCATGTTGCTGAGGCTGGTCTTGAACTGCTGGGCTCAAGCAATCTGCCAGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCGGCCTTTAAGACTGTCTTTCAGCTCCTCGGAGGCAAAGGTTTTTCCCTCTCTGGACCCACAGAGCCAGCAGTTTTAGGCTTCTGCACTGGCTTAGCAGATTTTGTCCATTTTCCAGGTTTATGATGTTCTGCACTTTCTCTCTGATCCAGCATTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACTTGCCCACCTCCCTCTAGTAGATCTTATTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCTTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACTTGCCCACCTACGCCTGGTTATGCATTAAAGTTTACAACTGGTCTTCCTTGGTATATCCAGCTACTCTTGATACCTGGGTCTCAAGTCATGTCTTCCTAATTAGTAGCCAGGTATCTGAGGCCACCATGGGTGTTATATCATTTTGGTCTTCACCCAAGTTCTGTTCTCTTCACTAATCAAGAAGATTGACTGCCCTCTCCAGGGTAGTCATTTGTAGCTCCACTTATCCCTCTTTTTAAGCATTTTCCCTGTCCCTGGTGGCTGGGTGCCTGTGTCCTGCTTATGATACCAGGAACAGATGACTCTTCTGTTCTTCCTGCTTCCTTGGGTGGAAACTGCAAAGGATGCCTTCCAAAATCAGCTTATTATTTTTGTGGACCCAAGATCTGTAGACAGCTAGCCAGTGCCCATCTCATGGAGAGAGGGTATTCTAAGCCAGATATGATCCAATCCCATGACTTGATCTGTACCCTGCAGGGCATGGCCTTTCTCCACAACAGCATTATTTCATCGCATGGGAGTCTCAAGTCCTCCAACTGTGTGGTGGATAGTTGTTTTGTGCTCAAAATCACAGACTATGGCCTGGCCAGCTTCCGATCAACTGCTGAACCTGATGACAGCCATGCCCTCTATGCCAGTGAGGCCCACCCCCACAACCCACTTTTTATATTGCTCCTCTTTCCACCTAGGGATGGTGGGAGAGGGAGGTGGAGTGACAGTAATATAGGGATGAGCCCAGGTGGGCTTGGGGGTGCCCCATTTCGGGGGACCTGGCCAGCCGGTTTCCTCTTTTCAGAGAAGCTGTGGACTGCCCCAGAACTGCTCAGTGGGAACCCCTTGCCAACCACAGGCATGCAGAAGGCTGACGTCTATAGCTTTGGGATCATCCTGCAGGAGATAGCACTTCGCAGTGGTCCTTTCTACTTGGAGGGCCTGGACCTCAGCCCCAAAGGTAAGAGTCAATCCACTACCCACAGCCTCTTCTTCCTGGGGGAACTCTGTTCTTCATCCAAACCTTTGATCACCCTCAGAGATTGTCCAGAAGGTACGAAATGGTCAGCGGCCATATTTCCGGCCAAGCATTGACCGGACCCAACTGAATGAAGAGCTAGTTTTGCTGATGGAGCGATGTTGGGCTCAGGACCCAGCTGAGCGGCCAGACTTTGGACAGATTAAGGGCTTCATTCGGCGCTTTAACAAGTGAGAGGGCATTATGGGGCAGGGGCTTCCCAGGGATAGAAGACTCATTAGTCCTAGTGCATGAAGTGGGGCAGGTGGGACCAGAGGGTGGGTTGGATAGGAAGTCCTGGGAATCTTCAGAATCTTAGAGCAAGTGCCTTATCCTGGCCTCCCTCTAGGGAGGGTGGCACCAGCATATTGGACAACCTCCTGCTGCGCATGGAACAGTATGCCAATAACTTGGAGAAGCTGGTGGAGGAACGCACACAGGCCTATCTGGAGGAAAAACGCAAGGCTGAAGCTCTGCTCTACCAAATCCTACCCCAGTGAGACTTTGTCCCCCTTCCTGTATTTTCTTTTGGGATTCTGCTCTGTTGGGCTCTGCCTCATCAGGCACCTGAGAACTCGCCTCCCCACCCTCAGAACCCTGCTGGCCACAGGGAGCACCCCTGCTTATAGATTATTTGCTGTCATTCTGTCTCCACATCAGCTATGCTGCCTTCTTACTGGCTGCCCATCCCTTCTTCTTAAGACCCTGCTCTACCACACCCTTGCTTCAGCAAGTGTATGTAAAACAGTCCCAACTTGAGACAGCTCCCATGCACAGGGATTCCCCTCAAACCCCCCCGCCACTTGTGTGCCTTACCTTGCATTAGACTGTAATGTCTTCCCAGCCACTTTCCTCCCTCCCACCTGAAAAGCCTAGCTTTCTTGTTACAGCTCATCTCTGCTGCAGCCACATACACTTTCCCTCTCTCTTCCACTCCTGCTCTCTTGGAGTTTGGCTCATACGGCACCCTTGCTTCCTAGTTCAGTGGCAGAGCAGTTAAAACGGGGAGAGACTGTACAGGCTGAGGCCTTTGACAGTGTTACCATCTACTTCAGTGACATTGTTGGCTTCACAGCATTGTCAGCAGAGAGCACCCCCATGCAGGTGAGAGCCATGGGTGAGAGGTGGCGGGTGGGGTTGGGTGGGTAGGGACCTGGGGAAGCCTCATTGATAATAGGAAAGATGAGTTTGTTCTAGAGTTCCCACATCTTTTGATGGCTTGTGGGTTAAGAATTCTTAGAAAATTGGGCACAAGTCTCAGGGCCTCTGCTTTTCTATCCCTTTTAGGTAGTGACACTTCTTAATGACCTGTATACCTGCTTTGATGCCATAATTGACAACTTTGATGTCTACAAGGTGAGAGCTGGGGCCGCTGTTCAATAGAAGACCCTTTAATAGAGACCCGCTTTGAAACTCAGTCTCCCTGAACCCCACACACCTTACCCACCCCATGATCAGTTTTCCCTCCAGGGTACTCAGCATCCTGGTGCTGGAGTGTACTTCGTAGACAGATGTAGCTCCAGCACTATAATTGTACACTCCAGTCGAATTTCTTGTGAATCCTTTGACTTCCCTAATCAGAACCATCATG
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Task1_train_12827
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This alteration in NPR2 (natriuretic peptide receptor 2) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Acromesomelic dysplasia 1, Maroteaux type
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TAAACATTTAGACAGAAATGTTTTTTGTTAGCATATTGAACCTTGTATCCTCTTTCTGTCTCACCTGAACTGACTTGGGTGGCTCCTAGGGTTTCATTTTTGGGGAGCATCATTAAGACTTTTTTTTTTTTTTTTCTGAGACAGGGTCTTATTCTGTCACCCAGGCTAGAGTGTAGTGGCTAGGTCACTGCTCACTGCAGCTTCGACCTCCTGGGCTCAAGTGATTCTCCCATCTTAGCCTCCTGAGTAGCTGGGACCACAGCGTGTGCTGCAGTGCCCGGCTCATTTTTATATTTTTGGTAGAGGTGGGGTTTCGCCATGTTGCTGAGGCTGGTCTTGAACTGCTGGGCTCAAGCAATCTGCCAGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCGGCCTTTAAGACTGTCTTTCAGCTCCTCGGAGGCAAAGGTTTTTCCCTCTCTGGACCCACAGAGCCAGCAGTTTTAGGCTTCTGCACTGGCTTAGCAGATTTTGTCCATTTTCCAGGTTTATGATGTTCTGCACTTTCTCTCTGATCCAGCATTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACTTGCCCACCTCCCTCTAGTAGATCTTATTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCTTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACTTGCCCACCTACGCCTGGTTATGCATTAAAGTTTACAACTGGTCTTCCTTGGTATATCCAGCTACTCTTGATACCTGGGTCTCAAGTCATGTCTTCCTAATTAGTAGCCAGGTATCTGAGGCCACCATGGGTGTTATATCATTTTGGTCTTCACCCAAGTTCTGTTCTCTTCACTAATCAAGAAGATTGACTGCCCTCTCCAGGGTAGTCATTTGTAGCTCCACTTATCCCTCTTTTTAAGCATTTTCCCTGTCCCTGGTGGCTGGGTGCCTGTGTCCTGCTTATGATACCAGGAACAGATGACTCTTCTGTTCTTCCTGCTTCCTTGGGTGGAAACTGCAAAGGATGCCTTCCAAAATCAGCTTATTATTTTTGTGGACCCAAGATCTGTAGACAGCTAGCCAGTGCCCATCTCATGGAGAGAGGGTATTCTAAGCCAGATATGATCCAATCCCATGACTTGATCTGTACCCTGCAGGGCATGGCCTTTCTCCACAACAGCATTATTTCATCGCATGGGAGTCTCAAGTCCTCCAACTGTGTGGTGGATAGTCGTTTTGTGCTCAAAATCACAGACTATGGCCTGGCCAGCTTCCGATCAACTGCTGAACCTGATGACAGCCATGCCCTCTATGCCAGTGAGGCCCACCCCCACAACCCACTTTTTATATTGCTCCTCTTTCCACCTAGGGATGGTGGGAGAGGGAGGTGGAGTGACAGTAATATAGGGATGAGCCCAGGTGGGCTTGGGGGTGCCCCATTTCGGGGGACCTGGCCAGCCGGTTTCCTCTTTTCAGAGAAGCTGTGGACTGCCCCAGAACTGCTCAGTGGGAACCCCTTGCCAACCACAGGCATGCAGAAGGCTGACGTCTATAGCTTTGGGATCATCCTGCAGGAGATAGCACTTCGCAGTGGTCCTTTCTACTTGGAGGGCCTGGACCTCAGCCCCAAAGGTAAGAGTCAATCCACTACCCACAGCCTCTTCTTCCTGGGGGAACTCTGTTCTTCATCCAAACCTTTGATCACCCTCAGAGATTGTCCAGAAGGTACGAAATGGTCAGCGGCCATATTTCCGGCCAAGCATTGACCGGACCCAACTGAATGAAGAGCTAGTTTTGCTGATGGAGCGATGTTGGGCTCAGGACCCAGCTGAGCGGCCAGACTTTGGACAGATTAAGGGCTTCATTCGGCGCTTTAACAAGTGAGAGGGCATTATGGGGCAGGGGCTTCCCAGGGATAGAAGACTCATTAGTCCTAGTGCATGAAGTGGGGCAGGTGGGACCAGAGGGTGGGTTGGATAGGAAGTCCTGGGAATCTTCAGAATCTTAGAGCAAGTGCCTTATCCTGGCCTCCCTCTAGGGAGGGTGGCACCAGCATATTGGACAACCTCCTGCTGCGCATGGAACAGTATGCCAATAACTTGGAGAAGCTGGTGGAGGAACGCACACAGGCCTATCTGGAGGAAAAACGCAAGGCTGAAGCTCTGCTCTACCAAATCCTACCCCAGTGAGACTTTGTCCCCCTTCCTGTATTTTCTTTTGGGATTCTGCTCTGTTGGGCTCTGCCTCATCAGGCACCTGAGAACTCGCCTCCCCACCCTCAGAACCCTGCTGGCCACAGGGAGCACCCCTGCTTATAGATTATTTGCTGTCATTCTGTCTCCACATCAGCTATGCTGCCTTCTTACTGGCTGCCCATCCCTTCTTCTTAAGACCCTGCTCTACCACACCCTTGCTTCAGCAAGTGTATGTAAAACAGTCCCAACTTGAGACAGCTCCCATGCACAGGGATTCCCCTCAAACCCCCCCGCCACTTGTGTGCCTTACCTTGCATTAGACTGTAATGTCTTCCCAGCCACTTTCCTCCCTCCCACCTGAAAAGCCTAGCTTTCTTGTTACAGCTCATCTCTGCTGCAGCCACATACACTTTCCCTCTCTCTTCCACTCCTGCTCTCTTGGAGTTTGGCTCATACGGCACCCTTGCTTCCTAGTTCAGTGGCAGAGCAGTTAAAACGGGGAGAGACTGTACAGGCTGAGGCCTTTGACAGTGTTACCATCTACTTCAGTGACATTGTTGGCTTCACAGCATTGTCAGCAGAGAGCACCCCCATGCAGGTGAGAGCCATGGGTGAGAGGTGGCGGGTGGGGTTGGGTGGGTAGGGACCTGGGGAAGCCTCATTGATAATAGGAAAGATGAGTTTGTTCTAGAGTTCCCACATCTTTTGATGGCTTGTGGGTTAAGAATTCTTAGAAAATTGGGCACAAGTCTCAGGGCCTCTGCTTTTCTATCCCTTTTAGGTAGTGACACTTCTTAATGACCTGTATACCTGCTTTGATGCCATAATTGACAACTTTGATGTCTACAAGGTGAGAGCTGGGGCCGCTGTTCAATAGAAGACCCTTTAATAGAGACCCGCTTTGAAACTCAGTCTCCCTGAACCCCACACACCTTACCCACCCCATGATCAGTTTTCCCTCCAGGGTACTCAGCATCCTGGTGCTGGAGTGTACTTCGTAGACAGATGTAGCTCCAGCACTATAATTGTACACTCCAGTCGAATTTCTTGTGAATCCTTTGACTTCCCTAATCAGAACCATCATGAGATTTAGCTCCTATCTTCCTGGAGTATAAATACAGCCTATCCAACATTTCTCTCCAGTCCTCTCCAGACATGGAAGAATCATATAGGATGTGGGTCCAGACTGATTTAGTGGGGTGAGGGAAAATATATTTTAAAAAGTAAAACTTTTTGTTGAAGTTATTGAGTTGGATTTATTGTCCTTGGGAGTAAAAATCATCTGGATTTGAATATTGGCTTGTTGCTAACTGTGTGGCCTTAGGTAAGTCACAGAATCTCCCTGAGCCTCAGTTGTTTTATCTGTAAGATGGGAATAATAGATTCGTTGTATGGAAAGTACCTAACATTGTTTGGCATGTGGCAGACTACTATTTAGGGATAACTACTTTATCCCTAAATACTTAGTGTGTATTTCCTAAAAACTTCACTGTGTATTTCCTTAAAACAATGGCATTTATTCTCTTACATAGCTTTGGCACAATTACCAAAATCAAATGCCTGCTTTCCTCCTCTCTGACAGTTTGGGCTGTCAGGTCCATTTCACTGGGCCTGCTTTACCTCCTCACCAGCCTCTGTCCTCTTGAGTTACCGTTTTCTTGC
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TAAACATTTAGACAGAAATGTTTTTTGTTAGCATATTGAACCTTGTATCCTCTTTCTGTCTCACCTGAACTGACTTGGGTGGCTCCTAGGGTTTCATTTTTGGGGAGCATCATTAAGACTTTTTTTTTTTTTTTTCTGAGACAGGGTCTTATTCTGTCACCCAGGCTAGAGTGTAGTGGCTAGGTCACTGCTCACTGCAGCTTCGACCTCCTGGGCTCAAGTGATTCTCCCATCTTAGCCTCCTGAGTAGCTGGGACCACAGCGTGTGCTGCAGTGCCCGGCTCATTTTTATATTTTTGGTAGAGGTGGGGTTTCGCCATGTTGCTGAGGCTGGTCTTGAACTGCTGGGCTCAAGCAATCTGCCAGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCGGCCTTTAAGACTGTCTTTCAGCTCCTCGGAGGCAAAGGTTTTTCCCTCTCTGGACCCACAGAGCCAGCAGTTTTAGGCTTCTGCACTGGCTTAGCAGATTTTGTCCATTTTCCAGGTTTATGATGTTCTGCACTTTCTCTCTGATCCAGCATTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACTTGCCCACCTCCCTCTAGTAGATCTTATTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCTTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACTTGCCCACCTACGCCTGGTTATGCATTAAAGTTTACAACTGGTCTTCCTTGGTATATCCAGCTACTCTTGATACCTGGGTCTCAAGTCATGTCTTCCTAATTAGTAGCCAGGTATCTGAGGCCACCATGGGTGTTATATCATTTTGGTCTTCACCCAAGTTCTGTTCTCTTCACTAATCAAGAAGATTGACTGCCCTCTCCAGGGTAGTCATTTGTAGCTCCACTTATCCCTCTTTTTAAGCATTTTCCCTGTCCCTGGTGGCTGGGTGCCTGTGTCCTGCTTATGATACCAGGAACAGATGACTCTTCTGTTCTTCCTGCTTCCTTGGGTGGAAACTGCAAAGGATGCCTTCCAAAATCAGCTTATTATTTTTGTGGACCCAAGATCTGTAGACAGCTAGCCAGTGCCCATCTCATGGAGAGAGGGTATTCTAAGCCAGATATGATCCAATCCCATGACTTGATCTGTACCCTGCAGGGCATGGCCTTTCTCCACAACAGCATTATTTCATCGCATGGGAGTCTCAAGTCCTCCAACTGTGTGGTGGATAGTCGTTTTGTGCTCAAAATCACAGACTATGGCCTGGCCAGCTTCCGATCAACTGCTGAACCTGATGACAGCCATGCCCTCTATGCCAGTGAGGCCCACCCCCACAACCCACTTTTTATATTGCTCCTCTTTCCACCTAGGGATGGTGGGAGAGGGAGGTGGAGTGACAGTAATATAGGGATGAGCCCAGGTGGGCTTGGGGGTGCCCCATTTCGGGGGACCTGGCCAGCCGGTTTCCTCTTTTCAGAGAAGCTGTGGACTGCCCCAGAACTGCTCAGTGGGAACCCCTTGCCAACCACAGGCATGCAGAAGGCTGACGTCTATAGCTTTGGGATCATCCTGCAGGAGATAGCACTTCGCAGTGGTCCTTTCTACTTGGAGGGCCTGGACCTCAGCCCCAAAGGTAAGAGTCAATCCACTACCCACAGCCTCTTCTTCCTGGGGGAACTCTGTTCTTCATCCAAACCTTTGATCACCCTCAGAGATTGTCCAGAAGGTACGAAATGGTCAGCGGCCATATTTCCGGCCAAGCATTGACCGGACCCAACTGAATGAAGAGCTAGTTTTGCTGATGGAGCGACGTTGGGCTCAGGACCCAGCTGAGCGGCCAGACTTTGGACAGATTAAGGGCTTCATTCGGCGCTTTAACAAGTGAGAGGGCATTATGGGGCAGGGGCTTCCCAGGGATAGAAGACTCATTAGTCCTAGTGCATGAAGTGGGGCAGGTGGGACCAGAGGGTGGGTTGGATAGGAAGTCCTGGGAATCTTCAGAATCTTAGAGCAAGTGCCTTATCCTGGCCTCCCTCTAGGGAGGGTGGCACCAGCATATTGGACAACCTCCTGCTGCGCATGGAACAGTATGCCAATAACTTGGAGAAGCTGGTGGAGGAACGCACACAGGCCTATCTGGAGGAAAAACGCAAGGCTGAAGCTCTGCTCTACCAAATCCTACCCCAGTGAGACTTTGTCCCCCTTCCTGTATTTTCTTTTGGGATTCTGCTCTGTTGGGCTCTGCCTCATCAGGCACCTGAGAACTCGCCTCCCCACCCTCAGAACCCTGCTGGCCACAGGGAGCACCCCTGCTTATAGATTATTTGCTGTCATTCTGTCTCCACATCAGCTATGCTGCCTTCTTACTGGCTGCCCATCCCTTCTTCTTAAGACCCTGCTCTACCACACCCTTGCTTCAGCAAGTGTATGTAAAACAGTCCCAACTTGAGACAGCTCCCATGCACAGGGATTCCCCTCAAACCCCCCCGCCACTTGTGTGCCTTACCTTGCATTAGACTGTAATGTCTTCCCAGCCACTTTCCTCCCTCCCACCTGAAAAGCCTAGCTTTCTTGTTACAGCTCATCTCTGCTGCAGCCACATACACTTTCCCTCTCTCTTCCACTCCTGCTCTCTTGGAGTTTGGCTCATACGGCACCCTTGCTTCCTAGTTCAGTGGCAGAGCAGTTAAAACGGGGAGAGACTGTACAGGCTGAGGCCTTTGACAGTGTTACCATCTACTTCAGTGACATTGTTGGCTTCACAGCATTGTCAGCAGAGAGCACCCCCATGCAGGTGAGAGCCATGGGTGAGAGGTGGCGGGTGGGGTTGGGTGGGTAGGGACCTGGGGAAGCCTCATTGATAATAGGAAAGATGAGTTTGTTCTAGAGTTCCCACATCTTTTGATGGCTTGTGGGTTAAGAATTCTTAGAAAATTGGGCACAAGTCTCAGGGCCTCTGCTTTTCTATCCCTTTTAGGTAGTGACACTTCTTAATGACCTGTATACCTGCTTTGATGCCATAATTGACAACTTTGATGTCTACAAGGTGAGAGCTGGGGCCGCTGTTCAATAGAAGACCCTTTAATAGAGACCCGCTTTGAAACTCAGTCTCCCTGAACCCCACACACCTTACCCACCCCATGATCAGTTTTCCCTCCAGGGTACTCAGCATCCTGGTGCTGGAGTGTACTTCGTAGACAGATGTAGCTCCAGCACTATAATTGTACACTCCAGTCGAATTTCTTGTGAATCCTTTGACTTCCCTAATCAGAACCATCATGAGATTTAGCTCCTATCTTCCTGGAGTATAAATACAGCCTATCCAACATTTCTCTCCAGTCCTCTCCAGACATGGAAGAATCATATAGGATGTGGGTCCAGACTGATTTAGTGGGGTGAGGGAAAATATATTTTAAAAAGTAAAACTTTTTGTTGAAGTTATTGAGTTGGATTTATTGTCCTTGGGAGTAAAAATCATCTGGATTTGAATATTGGCTTGTTGCTAACTGTGTGGCCTTAGGTAAGTCACAGAATCTCCCTGAGCCTCAGTTGTTTTATCTGTAAGATGGGAATAATAGATTCGTTGTATGGAAAGTACCTAACATTGTTTGGCATGTGGCAGACTACTATTTAGGGATAACTACTTTATCCCTAAATACTTAGTGTGTATTTCCTAAAAACTTCACTGTGTATTTCCTTAAAACAATGGCATTTATTCTCTTACATAGCTTTGGCACAATTACCAAAATCAAATGCCTGCTTTCCTCCTCTCTGACAGTTTGGGCTGTCAGGTCCATTTCACTGGGCCTGCTTTACCTCCTCACCAGCCTCTGTCCTCTTGAGTTACCGTTTTCTTGC
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Task1_train_12828
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Gene NPR2 (natriuretic peptide receptor 2) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Tall stature-scoliosis-macrodactyly of the great toes syndrome
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TCCCTGGTGGCTGGGTGCCTGTGTCCTGCTTATGATACCAGGAACAGATGACTCTTCTGTTCTTCCTGCTTCCTTGGGTGGAAACTGCAAAGGATGCCTTCCAAAATCAGCTTATTATTTTTGTGGACCCAAGATCTGTAGACAGCTAGCCAGTGCCCATCTCATGGAGAGAGGGTATTCTAAGCCAGATATGATCCAATCCCATGACTTGATCTGTACCCTGCAGGGCATGGCCTTTCTCCACAACAGCATTATTTCATCGCATGGGAGTCTCAAGTCCTCCAACTGTGTGGTGGATAGTCGTTTTGTGCTCAAAATCACAGACTATGGCCTGGCCAGCTTCCGATCAACTGCTGAACCTGATGACAGCCATGCCCTCTATGCCAGTGAGGCCCACCCCCACAACCCACTTTTTATATTGCTCCTCTTTCCACCTAGGGATGGTGGGAGAGGGAGGTGGAGTGACAGTAATATAGGGATGAGCCCAGGTGGGCTTGGGGGTGCCCCATTTCGGGGGACCTGGCCAGCCGGTTTCCTCTTTTCAGAGAAGCTGTGGACTGCCCCAGAACTGCTCAGTGGGAACCCCTTGCCAACCACAGGCATGCAGAAGGCTGACGTCTATAGCTTTGGGATCATCCTGCAGGAGATAGCACTTCGCAGTGGTCCTTTCTACTTGGAGGGCCTGGACCTCAGCCCCAAAGGTAAGAGTCAATCCACTACCCACAGCCTCTTCTTCCTGGGGGAACTCTGTTCTTCATCCAAACCTTTGATCACCCTCAGAGATTGTCCAGAAGGTACGAAATGGTCAGCGGCCATATTTCCGGCCAAGCATTGACCGGACCCAACTGAATGAAGAGCTAGTTTTGCTGATGGAGCGATGTTGGGCTCAGGACCCAGCTGAGCGGCCAGACTTTGGACAGATTAAGGGCTTCATTCGGCGCTTTAACAAGTGAGAGGGCATTATGGGGCAGGGGCTTCCCAGGGATAGAAGACTCATTAGTCCTAGTGCATGAAGTGGGGCAGGTGGGACCAGAGGGTGGGTTGGATAGGAAGTCCTGGGAATCTTCAGAATCTTAGAGCAAGTGCCTTATCCTGGCCTCCCTCTAGGGAGGGTGGCACCAGCATATTGGACAACCTCCTGCTGCGCATGGAACAGTATGCCAATAACTTGGAGAAGCTGGTGGAGGAACGCACACAGGCCTATCTGGAGGAAAAACGCAAGGCTGAAGCTCTGCTCTACCAAATCCTACCCCAGTGAGACTTTGTCCCCCTTCCTGTATTTTCTTTTGGGATTCTGCTCTGTTGGGCTCTGCCTCATCAGGCACCTGAGAACTCGCCTCCCCACCCTCAGAACCCTGCTGGCCACAGGGAGCACCCCTGCTTATAGATTATTTGCTGTCATTCTGTCTCCACATCAGCTATGCTGCCTTCTTACTGGCTGCCCATCCCTTCTTCTTAAGACCCTGCTCTACCACACCCTTGCTTCAGCAAGTGTATGTAAAACAGTCCCAACTTGAGACAGCTCCCATGCACAGGGATTCCCCTCAAACCCCCCCGCCACTTGTGTGCCTTACCTTGCATTAGACTGTAATGTCTTCCCAGCCACTTTCCTCCCTCCCACCTGAAAAGCCTAGCTTTCTTGTTACAGCTCATCTCTGCTGCAGCCACATACACTTTCCCTCTCTCTTCCACTCCTGCTCTCTTGGAGTTTGGCTCATACGGCACCCTTGCTTCCTAGTTCAGTGGCAGAGCAGTTAAAACGGGGAGAGACTGTACAGGCTGAGGCCTTTGACAGTGTTACCATCTACTTCAGTGACATTGTTGGCTTCACAGCATTGTCAGCAGAGAGCACCCCCATGCAGGTGAGAGCCATGGGTGAGAGGTGGCGGGTGGGGTTGGGTGGGTAGGGACCTGGGGAAGCCTCATTGATAATAGGAAAGATGAGTTTGTTCTAGAGTTCCCACATCTTTTGATGGCTTGTGGGTTAAGAATTCTTAGAAAATTGGGCACAAGTCTCAGGGCCTCTGCTTTTCTATCCCTTTTAGGTAGTGACACTTCTTAATGACCTGTATACCTGCTTTGATGCCATAATTGACAACTTTGATGTCTACAAGGTGAGAGCTGGGGCCGCTGTTCAATAGAAGACCCTTTAATAGAGACCCGCTTTGAAACTCAGTCTCCCTGAACCCCACACACCTTACCCACCCCATGATCAGTTTTCCCTCCAGGGTACTCAGCATCCTGGTGCTGGAGTGTACTTCGTAGACAGATGTAGCTCCAGCACTATAATTGTACACTCCAGTCGAATTTCTTGTGAATCCTTTGACTTCCCTAATCAGAACCATCATGAGATTTAGCTCCTATCTTCCTGGAGTATAAATACAGCCTATCCAACATTTCTCTCCAGTCCTCTCCAGACATGGAAGAATCATATAGGATGTGGGTCCAGACTGATTTAGTGGGGTGAGGGAAAATATATTTTAAAAAGTAAAACTTTTTGTTGAAGTTATTGAGTTGGATTTATTGTCCTTGGGAGTAAAAATCATCTGGATTTGAATATTGGCTTGTTGCTAACTGTGTGGCCTTAGGTAAGTCACAGAATCTCCCTGAGCCTCAGTTGTTTTATCTGTAAGATGGGAATAATAGATTCGTTGTATGGAAAGTACCTAACATTGTTTGGCATGTGGCAGACTACTATTTAGGGATAACTACTTTATCCCTAAATACTTAGTGTGTATTTCCTAAAAACTTCACTGTGTATTTCCTTAAAACAATGGCATTTATTCTCTTACATAGCTTTGGCACAATTACCAAAATCAAATGCCTGCTTTCCTCCTCTCTGACAGTTTGGGCTGTCAGGTCCATTTCACTGGGCCTGCTTTACCTCCTCACCAGCCTCTGTCCTCTTGAGTTACCGTTTTCTTGCTTCCCATTTCCTGATGGCAGAGCCTATTTGTCCATGTCCTGCTGCAGACAGGGTGTTCATTCATTCCGCAAATGTTTACTGAGTATTCACCAGGTGCTGGGTGGAGAAAGAAGACTTAAAGATTCCCTAGACATCTCCTCTCCCCTAGACTCAGGACCATGGCACTTATTTTCTAGTCAATATTCTGGTCTCCAGCATGTCAGGATGATTAATGATGGTGTCAAGCTTGTCTCCCTCTACTTTTTCCCATCCCCATGGATATAAATAGAGGTGACCTTTTAATCCCCCTCTCAATCAGGTGGAGACGATTGGGGATGCTTACATGGTGGTATCTGGCCTCCCAGGCCGAAATGGTCAACGCCATGCACCAGAAATTGCTCGTATGGCCCTAGCATTACTAGATGCAGTTTCTTCCTTTCGCATCCGCCACCGACCCCATGACCAGCTGAGGCTACGCATAGGGGTCCATACTGGTAAGGCTGACTCTCACTCCAGCCCTAGTCTCCACCTTTCCCAGACTCTCCCAACCTGTTTCTTCTCAAAGGGCCAGTCTGTGCTGGGGTTGTTGGCCTGAAGATGCCCCGTTATTGTCTTTTTGGAGACACAGTGAACACTGCTTCTCGAATGGAGTCTAATGGTCAAGGTAAGACATTAGCCCTCAACCCCACTGTTGGCCTCAATTTATCTTGCCCTTTTCTTCTTTTCATAATCCCTCCAATTTCTTAATCTGAGAGACCACAGTTCCTTAGTGTCGCATCCTCGGGCATATTTTGGTTCTAATAGATATGCATTGGGAGGTTGGGCATATTTTGGTCCTAATAGATATGCATTGGGAGCTTCCCAGGGATGGTTGGTCGGGCACGGTGCTATACAGTATCACCAATTATTTGATTGCCTTTTCTTTGATTCCTCATTCCACCATCCTCCCCATTCCACCCACCCCAGCGCTGAAGATCCATGTCTCCTCTACCACCAAGGATGCCCTAGATGAGCTAGGATGCTTCCAGCTAGAGCTTCGGGGGGATGTGGAAATGAAGGTGATGGCAGGCCATGGGGAGGGGGGCATGGAAAGGGAGGGTGAAAGTGATTATGGGAATCATAGGGAAAGAGAGGGAGACAAAGGGACTAACATCGAAGCATCTGAATCATGTCCACTCTCCCACTTCCAGG
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TCCCTGGTGGCTGGGTGCCTGTGTCCTGCTTATGATACCAGGAACAGATGACTCTTCTGTTCTTCCTGCTTCCTTGGGTGGAAACTGCAAAGGATGCCTTCCAAAATCAGCTTATTATTTTTGTGGACCCAAGATCTGTAGACAGCTAGCCAGTGCCCATCTCATGGAGAGAGGGTATTCTAAGCCAGATATGATCCAATCCCATGACTTGATCTGTACCCTGCAGGGCATGGCCTTTCTCCACAACAGCATTATTTCATCGCATGGGAGTCTCAAGTCCTCCAACTGTGTGGTGGATAGTCGTTTTGTGCTCAAAATCACAGACTATGGCCTGGCCAGCTTCCGATCAACTGCTGAACCTGATGACAGCCATGCCCTCTATGCCAGTGAGGCCCACCCCCACAACCCACTTTTTATATTGCTCCTCTTTCCACCTAGGGATGGTGGGAGAGGGAGGTGGAGTGACAGTAATATAGGGATGAGCCCAGGTGGGCTTGGGGGTGCCCCATTTCGGGGGACCTGGCCAGCCGGTTTCCTCTTTTCAGAGAAGCTGTGGACTGCCCCAGAACTGCTCAGTGGGAACCCCTTGCCAACCACAGGCATGCAGAAGGCTGACGTCTATAGCTTTGGGATCATCCTGCAGGAGATAGCACTTCGCAGTGGTCCTTTCTACTTGGAGGGCCTGGACCTCAGCCCCAAAGGTAAGAGTCAATCCACTACCCACAGCCTCTTCTTCCTGGGGGAACTCTGTTCTTCATCCAAACCTTTGATCACCCTCAGAGATTGTCCAGAAGGTACGAAATGGTCAGCGGCCATATTTCCGGCCAAGCATTGACCGGACCCAACTGAATGAAGAGCTAGTTTTGCTGATGGAGCGATGTTGGGCTCAGGACCCAGCTGAGCGGCCAGACTTTGGACAGATTAAGGGCTTCATTCGGCGCTTTAACAAGTGAGAGGGCATTATGGGGCAGGGGCTTCCCAGGGATAGAAGACTCATTAGTCCTAGTGCATGAAGTGGGGCAGGTGGGACCAGAGGGTGGGTTGGATAGGAAGTCCTGGGAATCTTCAGAATCTTAGAGCAAGTGCCTTATCCTGGCCTCCCTCTAGGGAGGGTGGCACCAGCATATTGGACAACCTCCTGCTGCGCATGGAACAGTATGCCAATAACTTGGAGAAGCTGGTGGAGGAACGCACACAGGCCTATCTGGAGGAAAAACGCAAGGCTGAAGCTCTGCTCTACCAAATCCTACCCCAGTGAGACTTTGTCCCCCTTCCTGTATTTTCTTTTGGGATTCTGCTCTGTTGGGCTCTGCCTCATCAGGCACCTGAGAACTCGCCTCCCCACCCTCAGAACCCTGCTGGCCACAGGGAGCACCCCTGCTTATAGATTATTTGCTGTCATTCTGTCTCCACATCAGCTATGCTGCCTTCTTACTGGCTGCCCATCCCTTCTTCTTAAGACCCTGCTCTACCACACCCTTGCTTCAGCAAGTGTATGTAAAACAGTCCCAACTTGAGACAGCTCCCATGCACAGGGATTCCCCTCAAACCCCCCCGCCACTTGTGTGCCTTACCTTGCATTAGACTGTAATGTCTTCCCAGCCACTTTCCTCCCTCCCACCTGAAAAGCCTAGCTTTCTTGTTACAGCTCATCTCTGCTGCAGCCACATACACTTTCCCTCTCTCTTCCACTCCTGCTCTCTTGGAGTTTGGCTCATACGGCACCCTTGCTTCCTAGTTCAGTGGCAGAGCAGTTAAAACGGGGAGAGACTGTACAGGCTGAGGCCTTTGACAGTGTTACCATCTACTTCAGTGACATTGTTGGCTTCACAGCATTGTCAGCAGAGAGCACCCCCATGCAGGTGAGAGCCATGGGTGAGAGGTGGCGGGTGGGGTTGGGTGGGTAGGGACCTGGGGAAGCCTCATTGATAATAGGAAAGATGAGTTTGTTCTAGAGTTCCCACATCTTTTGATGGCTTGTGGGTTAAGAATTCTTAGAAAATTGGGCACAAGTCTCAGGGCCTCTGCTTTTCTATCCCTTTTAGGTAATGACACTTCTTAATGACCTGTATACCTGCTTTGATGCCATAATTGACAACTTTGATGTCTACAAGGTGAGAGCTGGGGCCGCTGTTCAATAGAAGACCCTTTAATAGAGACCCGCTTTGAAACTCAGTCTCCCTGAACCCCACACACCTTACCCACCCCATGATCAGTTTTCCCTCCAGGGTACTCAGCATCCTGGTGCTGGAGTGTACTTCGTAGACAGATGTAGCTCCAGCACTATAATTGTACACTCCAGTCGAATTTCTTGTGAATCCTTTGACTTCCCTAATCAGAACCATCATGAGATTTAGCTCCTATCTTCCTGGAGTATAAATACAGCCTATCCAACATTTCTCTCCAGTCCTCTCCAGACATGGAAGAATCATATAGGATGTGGGTCCAGACTGATTTAGTGGGGTGAGGGAAAATATATTTTAAAAAGTAAAACTTTTTGTTGAAGTTATTGAGTTGGATTTATTGTCCTTGGGAGTAAAAATCATCTGGATTTGAATATTGGCTTGTTGCTAACTGTGTGGCCTTAGGTAAGTCACAGAATCTCCCTGAGCCTCAGTTGTTTTATCTGTAAGATGGGAATAATAGATTCGTTGTATGGAAAGTACCTAACATTGTTTGGCATGTGGCAGACTACTATTTAGGGATAACTACTTTATCCCTAAATACTTAGTGTGTATTTCCTAAAAACTTCACTGTGTATTTCCTTAAAACAATGGCATTTATTCTCTTACATAGCTTTGGCACAATTACCAAAATCAAATGCCTGCTTTCCTCCTCTCTGACAGTTTGGGCTGTCAGGTCCATTTCACTGGGCCTGCTTTACCTCCTCACCAGCCTCTGTCCTCTTGAGTTACCGTTTTCTTGCTTCCCATTTCCTGATGGCAGAGCCTATTTGTCCATGTCCTGCTGCAGACAGGGTGTTCATTCATTCCGCAAATGTTTACTGAGTATTCACCAGGTGCTGGGTGGAGAAAGAAGACTTAAAGATTCCCTAGACATCTCCTCTCCCCTAGACTCAGGACCATGGCACTTATTTTCTAGTCAATATTCTGGTCTCCAGCATGTCAGGATGATTAATGATGGTGTCAAGCTTGTCTCCCTCTACTTTTTCCCATCCCCATGGATATAAATAGAGGTGACCTTTTAATCCCCCTCTCAATCAGGTGGAGACGATTGGGGATGCTTACATGGTGGTATCTGGCCTCCCAGGCCGAAATGGTCAACGCCATGCACCAGAAATTGCTCGTATGGCCCTAGCATTACTAGATGCAGTTTCTTCCTTTCGCATCCGCCACCGACCCCATGACCAGCTGAGGCTACGCATAGGGGTCCATACTGGTAAGGCTGACTCTCACTCCAGCCCTAGTCTCCACCTTTCCCAGACTCTCCCAACCTGTTTCTTCTCAAAGGGCCAGTCTGTGCTGGGGTTGTTGGCCTGAAGATGCCCCGTTATTGTCTTTTTGGAGACACAGTGAACACTGCTTCTCGAATGGAGTCTAATGGTCAAGGTAAGACATTAGCCCTCAACCCCACTGTTGGCCTCAATTTATCTTGCCCTTTTCTTCTTTTCATAATCCCTCCAATTTCTTAATCTGAGAGACCACAGTTCCTTAGTGTCGCATCCTCGGGCATATTTTGGTTCTAATAGATATGCATTGGGAGGTTGGGCATATTTTGGTCCTAATAGATATGCATTGGGAGCTTCCCAGGGATGGTTGGTCGGGCACGGTGCTATACAGTATCACCAATTATTTGATTGCCTTTTCTTTGATTCCTCATTCCACCATCCTCCCCATTCCACCCACCCCAGCGCTGAAGATCCATGTCTCCTCTACCACCAAGGATGCCCTAGATGAGCTAGGATGCTTCCAGCTAGAGCTTCGGGGGGATGTGGAAATGAAGGTGATGGCAGGCCATGGGGAGGGGGGCATGGAAAGGGAGGGTGAAAGTGATTATGGGAATCATAGGGAAAGAGAGGGAGACAAAGGGACTAACATCGAAGCATCTGAATCATGTCCACTCTCCCACTTCCAGG
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Task1_train_12829
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This mutation is located in gene NPR2, SPAG8 (natriuretic peptide receptor 2| sperm associated antigen 8) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Acromesomelic dysplasia 1, Maroteaux type
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CTTGCTTCAGCAAGTGTATGTAAAACAGTCCCAACTTGAGACAGCTCCCATGCACAGGGATTCCCCTCAAACCCCCCCGCCACTTGTGTGCCTTACCTTGCATTAGACTGTAATGTCTTCCCAGCCACTTTCCTCCCTCCCACCTGAAAAGCCTAGCTTTCTTGTTACAGCTCATCTCTGCTGCAGCCACATACACTTTCCCTCTCTCTTCCACTCCTGCTCTCTTGGAGTTTGGCTCATACGGCACCCTTGCTTCCTAGTTCAGTGGCAGAGCAGTTAAAACGGGGAGAGACTGTACAGGCTGAGGCCTTTGACAGTGTTACCATCTACTTCAGTGACATTGTTGGCTTCACAGCATTGTCAGCAGAGAGCACCCCCATGCAGGTGAGAGCCATGGGTGAGAGGTGGCGGGTGGGGTTGGGTGGGTAGGGACCTGGGGAAGCCTCATTGATAATAGGAAAGATGAGTTTGTTCTAGAGTTCCCACATCTTTTGATGGCTTGTGGGTTAAGAATTCTTAGAAAATTGGGCACAAGTCTCAGGGCCTCTGCTTTTCTATCCCTTTTAGGTAGTGACACTTCTTAATGACCTGTATACCTGCTTTGATGCCATAATTGACAACTTTGATGTCTACAAGGTGAGAGCTGGGGCCGCTGTTCAATAGAAGACCCTTTAATAGAGACCCGCTTTGAAACTCAGTCTCCCTGAACCCCACACACCTTACCCACCCCATGATCAGTTTTCCCTCCAGGGTACTCAGCATCCTGGTGCTGGAGTGTACTTCGTAGACAGATGTAGCTCCAGCACTATAATTGTACACTCCAGTCGAATTTCTTGTGAATCCTTTGACTTCCCTAATCAGAACCATCATGAGATTTAGCTCCTATCTTCCTGGAGTATAAATACAGCCTATCCAACATTTCTCTCCAGTCCTCTCCAGACATGGAAGAATCATATAGGATGTGGGTCCAGACTGATTTAGTGGGGTGAGGGAAAATATATTTTAAAAAGTAAAACTTTTTGTTGAAGTTATTGAGTTGGATTTATTGTCCTTGGGAGTAAAAATCATCTGGATTTGAATATTGGCTTGTTGCTAACTGTGTGGCCTTAGGTAAGTCACAGAATCTCCCTGAGCCTCAGTTGTTTTATCTGTAAGATGGGAATAATAGATTCGTTGTATGGAAAGTACCTAACATTGTTTGGCATGTGGCAGACTACTATTTAGGGATAACTACTTTATCCCTAAATACTTAGTGTGTATTTCCTAAAAACTTCACTGTGTATTTCCTTAAAACAATGGCATTTATTCTCTTACATAGCTTTGGCACAATTACCAAAATCAAATGCCTGCTTTCCTCCTCTCTGACAGTTTGGGCTGTCAGGTCCATTTCACTGGGCCTGCTTTACCTCCTCACCAGCCTCTGTCCTCTTGAGTTACCGTTTTCTTGCTTCCCATTTCCTGATGGCAGAGCCTATTTGTCCATGTCCTGCTGCAGACAGGGTGTTCATTCATTCCGCAAATGTTTACTGAGTATTCACCAGGTGCTGGGTGGAGAAAGAAGACTTAAAGATTCCCTAGACATCTCCTCTCCCCTAGACTCAGGACCATGGCACTTATTTTCTAGTCAATATTCTGGTCTCCAGCATGTCAGGATGATTAATGATGGTGTCAAGCTTGTCTCCCTCTACTTTTTCCCATCCCCATGGATATAAATAGAGGTGACCTTTTAATCCCCCTCTCAATCAGGTGGAGACGATTGGGGATGCTTACATGGTGGTATCTGGCCTCCCAGGCCGAAATGGTCAACGCCATGCACCAGAAATTGCTCGTATGGCCCTAGCATTACTAGATGCAGTTTCTTCCTTTCGCATCCGCCACCGACCCCATGACCAGCTGAGGCTACGCATAGGGGTCCATACTGGTAAGGCTGACTCTCACTCCAGCCCTAGTCTCCACCTTTCCCAGACTCTCCCAACCTGTTTCTTCTCAAAGGGCCAGTCTGTGCTGGGGTTGTTGGCCTGAAGATGCCCCGTTATTGTCTTTTTGGAGACACAGTGAACACTGCTTCTCGAATGGAGTCTAATGGTCAAGGTAAGACATTAGCCCTCAACCCCACTGTTGGCCTCAATTTATCTTGCCCTTTTCTTCTTTTCATAATCCCTCCAATTTCTTAATCTGAGAGACCACAGTTCCTTAGTGTCGCATCCTCGGGCATATTTTGGTTCTAATAGATATGCATTGGGAGGTTGGGCATATTTTGGTCCTAATAGATATGCATTGGGAGCTTCCCAGGGATGGTTGGTCGGGCACGGTGCTATACAGTATCACCAATTATTTGATTGCCTTTTCTTTGATTCCTCATTCCACCATCCTCCCCATTCCACCCACCCCAGCGCTGAAGATCCATGTCTCCTCTACCACCAAGGATGCCCTAGATGAGCTAGGATGCTTCCAGCTAGAGCTTCGGGGGGATGTGGAAATGAAGGTGATGGCAGGCCATGGGGAGGGGGGCATGGAAAGGGAGGGTGAAAGTGATTATGGGAATCATAGGGAAAGAGAGGGAGACAAAGGGACTAACATCGAAGCATCTGAATCATGTCCACTCTCCCACTTCCAGGGAAAAGGAAAGATGCGAACATACTGGCTCTTAGGAGAGCGGAAAGGACCTCCTGGACTCCTGTAAACCCCCATTCTTTCCAAGTCAGATAGTCTTCTGCTGCTGGTACCTGGGTGGGCAATGGCCACCATGTCTGCACACACCAGAAATGGACATTTTCATATGCAATGGAAAACAGCCACAAAAAAACCTACCTTATATGGAAGTTGTAGCCCTCTGCAGCTCAGCCCTGTACATATACCTGTCCCTCTCTGGCTTGGTCCCCTTCCTCCCTACTTTCTGTAAATATCTGTATCTAAACCAGAATATTTTGGTCAAATATAAAACAATAATAAAAAAAGTTCTGATGTCATAGTGTGGGATAGGGGCAATCCCAAGGAAAGGTTATGGGGTATGCACACAGTGACTCACAGAATCACTAAATTAGCAGTCTTGGGATGAGAGAGAACCCTTTATGTAAAGCCTCTTCAAGTACAGTGAGAATTAACTTCCTCCCGACCTCTCTAGTGCAGACAGAAATAGATTCCATATTCCATACCCCACTTCCCTCCTCACCCCTCAGAAAGGAGTCATTCTCCCCCCTCCACCACCCAGCCTTCCTCCGGGACAGGGAAGGGAAGATATTTCTCCCAATTGGTAGGGGTAATTCTCAGGTTCATAGGGCAAAAGTTTCCCCAGAGACAAGGGTACTGGTGTTGAGAAGCTGCAGTTCTTCCGGAATGGTGTGTCCAATGTCCTGATGTTACTGACACCCTGGAGGAGTGCCAGGATGAGGATGGATCCCACTCTCCCCAAGCCAGAACAAAACAACTCTGCCCTACCTTTCCTGCCCCGCTCTGCCCCCAACACCTAGTCACCCTCACACACCGGCAGCTGTGGTGCCCTCTGTATCCAGAAGGTCTCAGGTTGCTCCTGGCGGTAGTCGTGAGGCTGTGAGGGAGGGTACTGAGTAACTCCTGGCCTTCAGCCCTCTCTCTCAACCTCTGGGCTTGGTACTTGGCCACAGCCTGTCAGAGCCCAGCTGGTGCAAGTGGCGGGGGATGGGGGGTGGGTTCTCACCTTTGTTGGGGCAGGAGTCCCTGCTTGTGCCAGCTCCATTCGGTAGTCATGGTGTGTCACAGACTCAACCTCGAAGAGCTTCCTTGTGGGTTCCTGTTCTGCCTGCACCTCTTTACTATGTAGCCCGAGGGGTGTCAAGGCCATTCTCACCCAATTTTTCTCCTCCCCATCCCTCTTCCCCTTTACCCAATCCCTTACCAGATCTGATGCTGCAGGAGCATCTCCAGCATGGCTTCACGCTTCCCTGTGAGAGAGTTGGGGGGTGGGCAAGGTGGGGTCTGGTTAAGAAGGAGGCCCAGAAGAAACTAACTTGAGAAAAGGAAGAAGAACCTTGGGGTTCCGCCCTTATATCCACTGGAGAATCCACAGCCCCACCAGAAATTCCTTCCTCTTCTTCCCTCTGAGTAATGGGCTCGTTCT
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CTTGCTTCAGCAAGTGTATGTAAAACAGTCCCAACTTGAGACAGCTCCCATGCACAGGGATTCCCCTCAAACCCCCCCGCCACTTGTGTGCCTTACCTTGCATTAGACTGTAATGTCTTCCCAGCCACTTTCCTCCCTCCCACCTGAAAAGCCTAGCTTTCTTGTTACAGCTCATCTCTGCTGCAGCCACATACACTTTCCCTCTCTCTTCCACTCCTGCTCTCTTGGAGTTTGGCTCATACGGCACCCTTGCTTCCTAGTTCAGTGGCAGAGCAGTTAAAACGGGGAGAGACTGTACAGGCTGAGGCCTTTGACAGTGTTACCATCTACTTCAGTGACATTGTTGGCTTCACAGCATTGTCAGCAGAGAGCACCCCCATGCAGGTGAGAGCCATGGGTGAGAGGTGGCGGGTGGGGTTGGGTGGGTAGGGACCTGGGGAAGCCTCATTGATAATAGGAAAGATGAGTTTGTTCTAGAGTTCCCACATCTTTTGATGGCTTGTGGGTTAAGAATTCTTAGAAAATTGGGCACAAGTCTCAGGGCCTCTGCTTTTCTATCCCTTTTAGGTAGTGACACTTCTTAATGACCTGTATACCTGCTTTGATGCCATAATTGACAACTTTGATGTCTACAAGGTGAGAGCTGGGGCCGCTGTTCAATAGAAGACCCTTTAATAGAGACCCGCTTTGAAACTCAGTCTCCCTGAACCCCACACACCTTACCCACCCCATGATCAGTTTTCCCTCCAGGGTACTCAGCATCCTGGTGCTGGAGTGTACTTCGTAGACAGATGTAGCTCCAGCACTATAATTGTACACTCCAGTCGAATTTCTTGTGAATCCTTTGACTTCCCTAATCAGAACCATCATGAGATTTAGCTCCTATCTTCCTGGAGTATAAATACAGCCTATCCAACATTTCTCTCCAGTCCTCTCCAGACATGGAAGAATCATATAGGATGTGGGTCCAGACTGATTTAGTGGGGTGAGGGAAAATATATTTTAAAAAGTAAAACTTTTTGTTGAAGTTATTGAGTTGGATTTATTGTCCTTGGGAGTAAAAATCATCTGGATTTGAATATTGGCTTGTTGCTAACTGTGTGGCCTTAGGTAAGTCACAGAATCTCCCTGAGCCTCAGTTGTTTTATCTGTAAGATGGGAATAATAGATTCGTTGTATGGAAAGTACCTAACATTGTTTGGCATGTGGCAGACTACTATTTAGGGATAACTACTTTATCCCTAAATACTTAGTGTGTATTTCCTAAAAACTTCACTGTGTATTTCCTTAAAACAATGGCATTTATTCTCTTACATAGCTTTGGCACAATTACCAAAATCAAATGCCTGCTTTCCTCCTCTCTGACAGTTTGGGCTGTCAGGTCCATTTCACTGGGCCTGCTTTACCTCCTCACCAGCCTCTGTCCTCTTGAGTTACCGTTTTCTTGCTTCCCATTTCCTGATGGCAGAGCCTATTTGTCCATGTCCTGCTGCAGACAGGGTGTTCATTCATTCCGCAAATGTTTACTGAGTATTCACCAGGTGCTGGGTGGAGAAAGAAGACTTAAAGATTCCCTAGACATCTCCTCTCCCCTAGACTCAGGACCATGGCACTTATTTTCTAGTCAATATTCTGGTCTCCAGCATGTCAGGATGATTAATGATGGTGTCAAGCTTGTCTCCCTCTACTTTTTCCCATCCCCATGGATATAAATAGAGGTGACCTTTTAATCCCCCTCTCAATCAGGTGGAGACGATTGGGGATGCTTACATGGTGGTATCTGGCCTCCCAGGCCGAAATGGTCAACGCCATGCACCAGAAATTGCTCGTATGGCCCTAGCATTACTAGATGCAGTTTCTTCCTTTCGCATCCGCCACCGACCCCATGACCAGCTGAGGCTACGCATAGGGGTCCATACTGGTAAGGCTGACTCTCACTCCAGCCCTAGTCTCCACCTTTCCCAGACTCTCCCAACCTGTTTCTTCTCAAAGGGCCAGTCTGTGCTGGGGTTGTTGGCCTGAAGATGCCCCGTTATTGTCTTTTTGGAAACACAGTGAACACTGCTTCTCGAATGGAGTCTAATGGTCAAGGTAAGACATTAGCCCTCAACCCCACTGTTGGCCTCAATTTATCTTGCCCTTTTCTTCTTTTCATAATCCCTCCAATTTCTTAATCTGAGAGACCACAGTTCCTTAGTGTCGCATCCTCGGGCATATTTTGGTTCTAATAGATATGCATTGGGAGGTTGGGCATATTTTGGTCCTAATAGATATGCATTGGGAGCTTCCCAGGGATGGTTGGTCGGGCACGGTGCTATACAGTATCACCAATTATTTGATTGCCTTTTCTTTGATTCCTCATTCCACCATCCTCCCCATTCCACCCACCCCAGCGCTGAAGATCCATGTCTCCTCTACCACCAAGGATGCCCTAGATGAGCTAGGATGCTTCCAGCTAGAGCTTCGGGGGGATGTGGAAATGAAGGTGATGGCAGGCCATGGGGAGGGGGGCATGGAAAGGGAGGGTGAAAGTGATTATGGGAATCATAGGGAAAGAGAGGGAGACAAAGGGACTAACATCGAAGCATCTGAATCATGTCCACTCTCCCACTTCCAGGGAAAAGGAAAGATGCGAACATACTGGCTCTTAGGAGAGCGGAAAGGACCTCCTGGACTCCTGTAAACCCCCATTCTTTCCAAGTCAGATAGTCTTCTGCTGCTGGTACCTGGGTGGGCAATGGCCACCATGTCTGCACACACCAGAAATGGACATTTTCATATGCAATGGAAAACAGCCACAAAAAAACCTACCTTATATGGAAGTTGTAGCCCTCTGCAGCTCAGCCCTGTACATATACCTGTCCCTCTCTGGCTTGGTCCCCTTCCTCCCTACTTTCTGTAAATATCTGTATCTAAACCAGAATATTTTGGTCAAATATAAAACAATAATAAAAAAAGTTCTGATGTCATAGTGTGGGATAGGGGCAATCCCAAGGAAAGGTTATGGGGTATGCACACAGTGACTCACAGAATCACTAAATTAGCAGTCTTGGGATGAGAGAGAACCCTTTATGTAAAGCCTCTTCAAGTACAGTGAGAATTAACTTCCTCCCGACCTCTCTAGTGCAGACAGAAATAGATTCCATATTCCATACCCCACTTCCCTCCTCACCCCTCAGAAAGGAGTCATTCTCCCCCCTCCACCACCCAGCCTTCCTCCGGGACAGGGAAGGGAAGATATTTCTCCCAATTGGTAGGGGTAATTCTCAGGTTCATAGGGCAAAAGTTTCCCCAGAGACAAGGGTACTGGTGTTGAGAAGCTGCAGTTCTTCCGGAATGGTGTGTCCAATGTCCTGATGTTACTGACACCCTGGAGGAGTGCCAGGATGAGGATGGATCCCACTCTCCCCAAGCCAGAACAAAACAACTCTGCCCTACCTTTCCTGCCCCGCTCTGCCCCCAACACCTAGTCACCCTCACACACCGGCAGCTGTGGTGCCCTCTGTATCCAGAAGGTCTCAGGTTGCTCCTGGCGGTAGTCGTGAGGCTGTGAGGGAGGGTACTGAGTAACTCCTGGCCTTCAGCCCTCTCTCTCAACCTCTGGGCTTGGTACTTGGCCACAGCCTGTCAGAGCCCAGCTGGTGCAAGTGGCGGGGGATGGGGGGTGGGTTCTCACCTTTGTTGGGGCAGGAGTCCCTGCTTGTGCCAGCTCCATTCGGTAGTCATGGTGTGTCACAGACTCAACCTCGAAGAGCTTCCTTGTGGGTTCCTGTTCTGCCTGCACCTCTTTACTATGTAGCCCGAGGGGTGTCAAGGCCATTCTCACCCAATTTTTCTCCTCCCCATCCCTCTTCCCCTTTACCCAATCCCTTACCAGATCTGATGCTGCAGGAGCATCTCCAGCATGGCTTCACGCTTCCCTGTGAGAGAGTTGGGGGGTGGGCAAGGTGGGGTCTGGTTAAGAAGGAGGCCCAGAAGAAACTAACTTGAGAAAAGGAAGAAGAACCTTGGGGTTCCGCCCTTATATCCACTGGAGAATCCACAGCCCCACCAGAAATTCCTTCCTCTTCTTCCCTCTGAGTAATGGGCTCGTTCT
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Task1_train_12830
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A mutation on Chromosome 9 affecting SPAG8, NPR2 (sperm associated antigen 8| natriuretic peptide receptor 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Acromesomelic dysplasia 1, Maroteaux type
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AAACAGTCCCAACTTGAGACAGCTCCCATGCACAGGGATTCCCCTCAAACCCCCCCGCCACTTGTGTGCCTTACCTTGCATTAGACTGTAATGTCTTCCCAGCCACTTTCCTCCCTCCCACCTGAAAAGCCTAGCTTTCTTGTTACAGCTCATCTCTGCTGCAGCCACATACACTTTCCCTCTCTCTTCCACTCCTGCTCTCTTGGAGTTTGGCTCATACGGCACCCTTGCTTCCTAGTTCAGTGGCAGAGCAGTTAAAACGGGGAGAGACTGTACAGGCTGAGGCCTTTGACAGTGTTACCATCTACTTCAGTGACATTGTTGGCTTCACAGCATTGTCAGCAGAGAGCACCCCCATGCAGGTGAGAGCCATGGGTGAGAGGTGGCGGGTGGGGTTGGGTGGGTAGGGACCTGGGGAAGCCTCATTGATAATAGGAAAGATGAGTTTGTTCTAGAGTTCCCACATCTTTTGATGGCTTGTGGGTTAAGAATTCTTAGAAAATTGGGCACAAGTCTCAGGGCCTCTGCTTTTCTATCCCTTTTAGGTAGTGACACTTCTTAATGACCTGTATACCTGCTTTGATGCCATAATTGACAACTTTGATGTCTACAAGGTGAGAGCTGGGGCCGCTGTTCAATAGAAGACCCTTTAATAGAGACCCGCTTTGAAACTCAGTCTCCCTGAACCCCACACACCTTACCCACCCCATGATCAGTTTTCCCTCCAGGGTACTCAGCATCCTGGTGCTGGAGTGTACTTCGTAGACAGATGTAGCTCCAGCACTATAATTGTACACTCCAGTCGAATTTCTTGTGAATCCTTTGACTTCCCTAATCAGAACCATCATGAGATTTAGCTCCTATCTTCCTGGAGTATAAATACAGCCTATCCAACATTTCTCTCCAGTCCTCTCCAGACATGGAAGAATCATATAGGATGTGGGTCCAGACTGATTTAGTGGGGTGAGGGAAAATATATTTTAAAAAGTAAAACTTTTTGTTGAAGTTATTGAGTTGGATTTATTGTCCTTGGGAGTAAAAATCATCTGGATTTGAATATTGGCTTGTTGCTAACTGTGTGGCCTTAGGTAAGTCACAGAATCTCCCTGAGCCTCAGTTGTTTTATCTGTAAGATGGGAATAATAGATTCGTTGTATGGAAAGTACCTAACATTGTTTGGCATGTGGCAGACTACTATTTAGGGATAACTACTTTATCCCTAAATACTTAGTGTGTATTTCCTAAAAACTTCACTGTGTATTTCCTTAAAACAATGGCATTTATTCTCTTACATAGCTTTGGCACAATTACCAAAATCAAATGCCTGCTTTCCTCCTCTCTGACAGTTTGGGCTGTCAGGTCCATTTCACTGGGCCTGCTTTACCTCCTCACCAGCCTCTGTCCTCTTGAGTTACCGTTTTCTTGCTTCCCATTTCCTGATGGCAGAGCCTATTTGTCCATGTCCTGCTGCAGACAGGGTGTTCATTCATTCCGCAAATGTTTACTGAGTATTCACCAGGTGCTGGGTGGAGAAAGAAGACTTAAAGATTCCCTAGACATCTCCTCTCCCCTAGACTCAGGACCATGGCACTTATTTTCTAGTCAATATTCTGGTCTCCAGCATGTCAGGATGATTAATGATGGTGTCAAGCTTGTCTCCCTCTACTTTTTCCCATCCCCATGGATATAAATAGAGGTGACCTTTTAATCCCCCTCTCAATCAGGTGGAGACGATTGGGGATGCTTACATGGTGGTATCTGGCCTCCCAGGCCGAAATGGTCAACGCCATGCACCAGAAATTGCTCGTATGGCCCTAGCATTACTAGATGCAGTTTCTTCCTTTCGCATCCGCCACCGACCCCATGACCAGCTGAGGCTACGCATAGGGGTCCATACTGGTAAGGCTGACTCTCACTCCAGCCCTAGTCTCCACCTTTCCCAGACTCTCCCAACCTGTTTCTTCTCAAAGGGCCAGTCTGTGCTGGGGTTGTTGGCCTGAAGATGCCCCGTTATTGTCTTTTTGGAGACACAGTGAACACTGCTTCTCGAATGGAGTCTAATGGTCAAGGTAAGACATTAGCCCTCAACCCCACTGTTGGCCTCAATTTATCTTGCCCTTTTCTTCTTTTCATAATCCCTCCAATTTCTTAATCTGAGAGACCACAGTTCCTTAGTGTCGCATCCTCGGGCATATTTTGGTTCTAATAGATATGCATTGGGAGGTTGGGCATATTTTGGTCCTAATAGATATGCATTGGGAGCTTCCCAGGGATGGTTGGTCGGGCACGGTGCTATACAGTATCACCAATTATTTGATTGCCTTTTCTTTGATTCCTCATTCCACCATCCTCCCCATTCCACCCACCCCAGCGCTGAAGATCCATGTCTCCTCTACCACCAAGGATGCCCTAGATGAGCTAGGATGCTTCCAGCTAGAGCTTCGGGGGGATGTGGAAATGAAGGTGATGGCAGGCCATGGGGAGGGGGGCATGGAAAGGGAGGGTGAAAGTGATTATGGGAATCATAGGGAAAGAGAGGGAGACAAAGGGACTAACATCGAAGCATCTGAATCATGTCCACTCTCCCACTTCCAGGGAAAAGGAAAGATGCGAACATACTGGCTCTTAGGAGAGCGGAAAGGACCTCCTGGACTCCTGTAAACCCCCATTCTTTCCAAGTCAGATAGTCTTCTGCTGCTGGTACCTGGGTGGGCAATGGCCACCATGTCTGCACACACCAGAAATGGACATTTTCATATGCAATGGAAAACAGCCACAAAAAAACCTACCTTATATGGAAGTTGTAGCCCTCTGCAGCTCAGCCCTGTACATATACCTGTCCCTCTCTGGCTTGGTCCCCTTCCTCCCTACTTTCTGTAAATATCTGTATCTAAACCAGAATATTTTGGTCAAATATAAAACAATAATAAAAAAAGTTCTGATGTCATAGTGTGGGATAGGGGCAATCCCAAGGAAAGGTTATGGGGTATGCACACAGTGACTCACAGAATCACTAAATTAGCAGTCTTGGGATGAGAGAGAACCCTTTATGTAAAGCCTCTTCAAGTACAGTGAGAATTAACTTCCTCCCGACCTCTCTAGTGCAGACAGAAATAGATTCCATATTCCATACCCCACTTCCCTCCTCACCCCTCAGAAAGGAGTCATTCTCCCCCCTCCACCACCCAGCCTTCCTCCGGGACAGGGAAGGGAAGATATTTCTCCCAATTGGTAGGGGTAATTCTCAGGTTCATAGGGCAAAAGTTTCCCCAGAGACAAGGGTACTGGTGTTGAGAAGCTGCAGTTCTTCCGGAATGGTGTGTCCAATGTCCTGATGTTACTGACACCCTGGAGGAGTGCCAGGATGAGGATGGATCCCACTCTCCCCAAGCCAGAACAAAACAACTCTGCCCTACCTTTCCTGCCCCGCTCTGCCCCCAACACCTAGTCACCCTCACACACCGGCAGCTGTGGTGCCCTCTGTATCCAGAAGGTCTCAGGTTGCTCCTGGCGGTAGTCGTGAGGCTGTGAGGGAGGGTACTGAGTAACTCCTGGCCTTCAGCCCTCTCTCTCAACCTCTGGGCTTGGTACTTGGCCACAGCCTGTCAGAGCCCAGCTGGTGCAAGTGGCGGGGGATGGGGGGTGGGTTCTCACCTTTGTTGGGGCAGGAGTCCCTGCTTGTGCCAGCTCCATTCGGTAGTCATGGTGTGTCACAGACTCAACCTCGAAGAGCTTCCTTGTGGGTTCCTGTTCTGCCTGCACCTCTTTACTATGTAGCCCGAGGGGTGTCAAGGCCATTCTCACCCAATTTTTCTCCTCCCCATCCCTCTTCCCCTTTACCCAATCCCTTACCAGATCTGATGCTGCAGGAGCATCTCCAGCATGGCTTCACGCTTCCCTGTGAGAGAGTTGGGGGGTGGGCAAGGTGGGGTCTGGTTAAGAAGGAGGCCCAGAAGAAACTAACTTGAGAAAAGGAAGAAGAACCTTGGGGTTCCGCCCTTATATCCACTGGAGAATCCACAGCCCCACCAGAAATTCCTTCCTCTTCTTCCCTCTGAGTAATGGGCTCGTTCTGGCCTACCCTCTCACATTTCAC
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AAACAGTCCCAACTTGAGACAGCTCCCATGCACAGGGATTCCCCTCAAACCCCCCCGCCACTTGTGTGCCTTACCTTGCATTAGACTGTAATGTCTTCCCAGCCACTTTCCTCCCTCCCACCTGAAAAGCCTAGCTTTCTTGTTACAGCTCATCTCTGCTGCAGCCACATACACTTTCCCTCTCTCTTCCACTCCTGCTCTCTTGGAGTTTGGCTCATACGGCACCCTTGCTTCCTAGTTCAGTGGCAGAGCAGTTAAAACGGGGAGAGACTGTACAGGCTGAGGCCTTTGACAGTGTTACCATCTACTTCAGTGACATTGTTGGCTTCACAGCATTGTCAGCAGAGAGCACCCCCATGCAGGTGAGAGCCATGGGTGAGAGGTGGCGGGTGGGGTTGGGTGGGTAGGGACCTGGGGAAGCCTCATTGATAATAGGAAAGATGAGTTTGTTCTAGAGTTCCCACATCTTTTGATGGCTTGTGGGTTAAGAATTCTTAGAAAATTGGGCACAAGTCTCAGGGCCTCTGCTTTTCTATCCCTTTTAGGTAGTGACACTTCTTAATGACCTGTATACCTGCTTTGATGCCATAATTGACAACTTTGATGTCTACAAGGTGAGAGCTGGGGCCGCTGTTCAATAGAAGACCCTTTAATAGAGACCCGCTTTGAAACTCAGTCTCCCTGAACCCCACACACCTTACCCACCCCATGATCAGTTTTCCCTCCAGGGTACTCAGCATCCTGGTGCTGGAGTGTACTTCGTAGACAGATGTAGCTCCAGCACTATAATTGTACACTCCAGTCGAATTTCTTGTGAATCCTTTGACTTCCCTAATCAGAACCATCATGAGATTTAGCTCCTATCTTCCTGGAGTATAAATACAGCCTATCCAACATTTCTCTCCAGTCCTCTCCAGACATGGAAGAATCATATAGGATGTGGGTCCAGACTGATTTAGTGGGGTGAGGGAAAATATATTTTAAAAAGTAAAACTTTTTGTTGAAGTTATTGAGTTGGATTTATTGTCCTTGGGAGTAAAAATCATCTGGATTTGAATATTGGCTTGTTGCTAACTGTGTGGCCTTAGGTAAGTCACAGAATCTCCCTGAGCCTCAGTTGTTTTATCTGTAAGATGGGAATAATAGATTCGTTGTATGGAAAGTACCTAACATTGTTTGGCATGTGGCAGACTACTATTTAGGGATAACTACTTTATCCCTAAATACTTAGTGTGTATTTCCTAAAAACTTCACTGTGTATTTCCTTAAAACAATGGCATTTATTCTCTTACATAGCTTTGGCACAATTACCAAAATCAAATGCCTGCTTTCCTCCTCTCTGACAGTTTGGGCTGTCAGGTCCATTTCACTGGGCCTGCTTTACCTCCTCACCAGCCTCTGTCCTCTTGAGTTACCGTTTTCTTGCTTCCCATTTCCTGATGGCAGAGCCTATTTGTCCATGTCCTGCTGCAGACAGGGTGTTCATTCATTCCGCAAATGTTTACTGAGTATTCACCAGGTGCTGGGTGGAGAAAGAAGACTTAAAGATTCCCTAGACATCTCCTCTCCCCTAGACTCAGGACCATGGCACTTATTTTCTAGTCAATATTCTGGTCTCCAGCATGTCAGGATGATTAATGATGGTGTCAAGCTTGTCTCCCTCTACTTTTTCCCATCCCCATGGATATAAATAGAGGTGACCTTTTAATCCCCCTCTCAATCAGGTGGAGACGATTGGGGATGCTTACATGGTGGTATCTGGCCTCCCAGGCCGAAATGGTCAACGCCATGCACCAGAAATTGCTCGTATGGCCCTAGCATTACTAGATGCAGTTTCTTCCTTTCGCATCCGCCACCGACCCCATGACCAGCTGAGGCTACGCATAGGGGTCCATACTGGTAAGGCTGACTCTCACTCCAGCCCTAGTCTCCACCTTTCCCAGACTCTCCCAACCTGTTTCTTCTCAAAGGGCCAGTCTGTGCTGGGGTTGTTGGCCTGAAGATGCCCCGTTATTGTCTTTTTGGAGACACAGTGAACACTGCTTCTCAAATGGAGTCTAATGGTCAAGGTAAGACATTAGCCCTCAACCCCACTGTTGGCCTCAATTTATCTTGCCCTTTTCTTCTTTTCATAATCCCTCCAATTTCTTAATCTGAGAGACCACAGTTCCTTAGTGTCGCATCCTCGGGCATATTTTGGTTCTAATAGATATGCATTGGGAGGTTGGGCATATTTTGGTCCTAATAGATATGCATTGGGAGCTTCCCAGGGATGGTTGGTCGGGCACGGTGCTATACAGTATCACCAATTATTTGATTGCCTTTTCTTTGATTCCTCATTCCACCATCCTCCCCATTCCACCCACCCCAGCGCTGAAGATCCATGTCTCCTCTACCACCAAGGATGCCCTAGATGAGCTAGGATGCTTCCAGCTAGAGCTTCGGGGGGATGTGGAAATGAAGGTGATGGCAGGCCATGGGGAGGGGGGCATGGAAAGGGAGGGTGAAAGTGATTATGGGAATCATAGGGAAAGAGAGGGAGACAAAGGGACTAACATCGAAGCATCTGAATCATGTCCACTCTCCCACTTCCAGGGAAAAGGAAAGATGCGAACATACTGGCTCTTAGGAGAGCGGAAAGGACCTCCTGGACTCCTGTAAACCCCCATTCTTTCCAAGTCAGATAGTCTTCTGCTGCTGGTACCTGGGTGGGCAATGGCCACCATGTCTGCACACACCAGAAATGGACATTTTCATATGCAATGGAAAACAGCCACAAAAAAACCTACCTTATATGGAAGTTGTAGCCCTCTGCAGCTCAGCCCTGTACATATACCTGTCCCTCTCTGGCTTGGTCCCCTTCCTCCCTACTTTCTGTAAATATCTGTATCTAAACCAGAATATTTTGGTCAAATATAAAACAATAATAAAAAAAGTTCTGATGTCATAGTGTGGGATAGGGGCAATCCCAAGGAAAGGTTATGGGGTATGCACACAGTGACTCACAGAATCACTAAATTAGCAGTCTTGGGATGAGAGAGAACCCTTTATGTAAAGCCTCTTCAAGTACAGTGAGAATTAACTTCCTCCCGACCTCTCTAGTGCAGACAGAAATAGATTCCATATTCCATACCCCACTTCCCTCCTCACCCCTCAGAAAGGAGTCATTCTCCCCCCTCCACCACCCAGCCTTCCTCCGGGACAGGGAAGGGAAGATATTTCTCCCAATTGGTAGGGGTAATTCTCAGGTTCATAGGGCAAAAGTTTCCCCAGAGACAAGGGTACTGGTGTTGAGAAGCTGCAGTTCTTCCGGAATGGTGTGTCCAATGTCCTGATGTTACTGACACCCTGGAGGAGTGCCAGGATGAGGATGGATCCCACTCTCCCCAAGCCAGAACAAAACAACTCTGCCCTACCTTTCCTGCCCCGCTCTGCCCCCAACACCTAGTCACCCTCACACACCGGCAGCTGTGGTGCCCTCTGTATCCAGAAGGTCTCAGGTTGCTCCTGGCGGTAGTCGTGAGGCTGTGAGGGAGGGTACTGAGTAACTCCTGGCCTTCAGCCCTCTCTCTCAACCTCTGGGCTTGGTACTTGGCCACAGCCTGTCAGAGCCCAGCTGGTGCAAGTGGCGGGGGATGGGGGGTGGGTTCTCACCTTTGTTGGGGCAGGAGTCCCTGCTTGTGCCAGCTCCATTCGGTAGTCATGGTGTGTCACAGACTCAACCTCGAAGAGCTTCCTTGTGGGTTCCTGTTCTGCCTGCACCTCTTTACTATGTAGCCCGAGGGGTGTCAAGGCCATTCTCACCCAATTTTTCTCCTCCCCATCCCTCTTCCCCTTTACCCAATCCCTTACCAGATCTGATGCTGCAGGAGCATCTCCAGCATGGCTTCACGCTTCCCTGTGAGAGAGTTGGGGGGTGGGCAAGGTGGGGTCTGGTTAAGAAGGAGGCCCAGAAGAAACTAACTTGAGAAAAGGAAGAAGAACCTTGGGGTTCCGCCCTTATATCCACTGGAGAATCCACAGCCCCACCAGAAATTCCTTCCTCTTCTTCCCTCTGAGTAATGGGCTCGTTCTGGCCTACCCTCTCACATTTCAC
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Task1_train_12831
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This sequence variant lies in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Thrombocytopenia 12 with or without myopathy
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ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACA
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ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCGTGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACA
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Task1_train_12832
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Given this variant in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; GNE myopathy
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ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACA
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ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCGTGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACA
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Task1_train_12833
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Here’s a variant in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Sialuria
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ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACA
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ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCGTGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACA
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Task1_train_12834
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Here is a variant affecting GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Sialuria
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ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACA
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ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCGTGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACA
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Task1_train_12835
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This variant affects the gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; GNE myopathy
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ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACA
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ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCGTGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACA
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Task1_train_12836
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An alteration has been detected in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; GNE myopathy
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ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACA
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ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCGTGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACA
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Task1_train_12837
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The gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Sialuria
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ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACA
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ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCGTGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACA
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Task1_train_12838
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Consider a variant on Chromosome 9 in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Determine its clinical classification and disease relevance.
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Pathogenic; Myopathy, autophagic vacuolar, infantile-onset
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TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACC
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TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATGGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACC
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Task1_train_12839
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A mutation found in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; GNE myopathy
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TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACC
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TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATGGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACC
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Task1_train_12840
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This variant affects the gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Sialuria
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TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACC
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TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATGGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACC
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Task1_train_12841
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Here is a mutation in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; GNE myopathy
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TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACC
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TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATGGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACC
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Task1_train_12842
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This mutation occurs in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Thrombocytopenia 12 with or without myopathy
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TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACC
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TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATGGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACC
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Task1_train_12843
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A genomic change on Chromosome 9 affects GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Sialuria
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TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACC
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TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATGGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACC
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Task1_train_12844
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A mutation in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; GNE myopathy
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TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACC
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TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATGAAAACACGAATCATGTAGACAGAATCCTGATTCATGGCTCTGGGCTCTAGGTAAAACTCAAAACTTTAATGGACACCCTAGGGTGTTACTCAACACAGTATGAAAGGCTACTGAAGGAAGAAGTGTCTGCTGGTCAGTAGCAAAGATCCTTTTGGGACAGTTAATCTCCTTTTAAAGGCTCTAAGTCCCAGTGGCTTCTCAGCTGTCCTAAGAAGATAAGGACAAGGTCACTAAGGCCACTGTAATTTAGATCCCTGGTCTAAAGTCTCTTGTAAGTTCAGCTAGAGTAATAACATCTTTCAACAAATGGTATCCAGGATTAGGGGGGATATCTGAGATGGGGGAGTGATAGATATGTCCAGTGTCTTGATTGTGGTGATGCTTTCACAGGTATACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATGGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACC
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Task1_train_12845
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A variant was discovered on Chromosome 9, affecting GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Sialuria
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TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGAC
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TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCACAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGAC
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Task1_train_12846
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Assess the clinical impact of this variant on gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), found on Chromosome 9. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; GNE myopathy
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TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGAC
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TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCACAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGAC
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Task1_train_12847
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The gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; GNE myopathy
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TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGAC
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TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCACAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGAC
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Task1_train_12848
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The gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Hereditary nonpolyposis colon cancer
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TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGAC
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TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCACAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGAC
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Task1_train_12849
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Here is a genetic alteration in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Thrombocytopenia 12 with or without myopathy
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TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGAC
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TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCACAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGAC
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Task1_train_12850
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The gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Sialuria
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TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGAC
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TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCACAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGAC
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Task1_train_12851
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Gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Thrombocytopenia 12 with or without myopathy
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TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGAC
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TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCACAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGAC
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Task1_train_12852
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A mutation found in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; GNE myopathy
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TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGAC
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TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCACAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGAC
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Task1_train_12853
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Here is a mutation in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; GNE myopathy
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ACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACA
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ACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGTAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACA
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Task1_train_12854
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A genomic change on Chromosome 9 affects GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Sialuria
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ACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACA
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ACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGTAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACA
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Task1_train_12855
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Consider this mutation in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Is this a benign change or a disease-causing variant?
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Pathogenic; GNE myopathy
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ACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACA
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ACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTGGAAGGATTATTATTATTATTATTATTATTATTATTATTTATTATTATTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGTTCACTGCCAGCTCCGCCTCCCTGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTCACCATGTTAGCCAGGGCGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTGGAAGGATTATTAATGCAAACTTCAGGATGAAGTGATATCCCAGGCAAGGCCTGAAGGTCTCAGTGGTATTAATACATTAGTAAGCAGAGTTCTAAGAAGGCTTCCTCTCTATTATTGTAGCTGCTTTGGCACAGAAAATTGTGACTGTAACTTACAGGGTTTGAGCTAAAATGACCCCTAGTAAGAAGACATCAGAAAGAATAGCATCTACAAAAATAGGAGTGGGGAAAGGTGACTCTGGAAGAGGAGACCAAAAGTGAAAACATTTCTCTGCCAAAGTCACCTGCAGTTCAATACCAGATTTGATTGTTAAGAAACGGTCATCCTAAAGACAAGAACTTGATTCCACTCAGGAGCTCTGGAGAGAAGGTCCATGTCTGTTCCTGGAGGTCTAGTAGATCCTGCGTGTTGTGTAGTCCAGAACCATGCTGGCAGCACCCAGCAGGGCGGGGTCAACCAAATCCGAAACCACCACATCCACGTCCTGCACGGAGGACAAGGCCTGCTGGCGAATGACGTCTTTGACAATGTGGATATAGTGACTGGCCAGGACTCCGGAGAGGATCACAAGGGAGGGATTCATGGTATGGAGGATGTTCACAACCCCAAGACCCAAAGCTGTTCCAGCTATAGGGAGACAAAAATTAAAATGAGTTTCTGAGAGAAGCCAAAATCAAAATACCAAAGAGGAAGGCAGAAAAGAGCCAGCAGCAGAAATGTTAAAGAACATCCACGGCATGCAGTGGGAGGCAGTGTTTTAAAAGCAGTTCACGGTTGATTCTTAATATGAGAAAATGATCATGTGACAGCCTCAAGTGGAAAAAGCCGGGTGTACCACATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGTAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACA
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Task1_train_12856
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A variant found in Chromosome 9 affects GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; GNE myopathy
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ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGT
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ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAGTGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGT
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Task1_train_12857
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Gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Sialuria
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ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGT
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ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAGTGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGT
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Task1_train_12858
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Chromosome 9 houses a mutation in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; GNE myopathy
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ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGT
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ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAGTGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGT
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Task1_train_12859
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The gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Sialuria
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ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGT
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ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAGTGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGT
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Task1_train_12860
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This sequence change occurs on Chromosome 9, altering GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; GNE myopathy
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ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGT
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ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAGTGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGT
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Task1_train_12861
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A mutation on Chromosome 9 affecting GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Thrombocytopenia 12 with or without myopathy
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ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGT
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ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAGTGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGT
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Task1_train_12862
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Here is a genetic alteration in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; GNE myopathy
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AATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGTGTACAGAAACAGTACTGGATACCAGTACCTGAC
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AATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCTCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGTGTACAGAAACAGTACTGGATACCAGTACCTGAC
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Task1_train_12863
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The variant affects gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Sialuria
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AATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGTGTACAGAAACAGTACTGGATACCAGTACCTGAC
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AATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCTCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGTGTACAGAAACAGTACTGGATACCAGTACCTGAC
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Task1_train_12864
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A variant was discovered on Chromosome 9, affecting GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; GNE myopathy
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AATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGTGTACAGAAACAGTACTGGATACCAGTACCTGAC
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AATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCTCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGTGTACAGAAACAGTACTGGATACCAGTACCTGAC
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Task1_train_12865
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Consider a variant on Chromosome 9 in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Determine its clinical classification and disease relevance.
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Pathogenic; Sialuria
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AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGTGTACAGAAACAGTACTGGATACCAGTACCTGACGGGGCAGGACGAA
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AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACAGAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGTGTACAGAAACAGTACTGGATACCAGTACCTGACGGGGCAGGACGAA
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Task1_train_12866
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Gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; GNE myopathy
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AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGTGTACAGAAACAGTACTGGATACCAGTACCTGACGGGGCAGGACGAA
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AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACAGAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGTGTACAGAAACAGTACTGGATACCAGTACCTGACGGGGCAGGACGAA
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Task1_train_12867
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The gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Thrombocytopenia 12 with or without myopathy
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AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGTGTACAGAAACAGTACTGGATACCAGTACCTGACGGGGCAGGACGAA
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AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACAGAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGTGTACAGAAACAGTACTGGATACCAGTACCTGACGGGGCAGGACGAA
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Task1_train_12868
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Consider this mutation in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Is this a benign change or a disease-causing variant?
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Pathogenic; Sialuria
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AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGTGTACAGAAACAGTACTGGATACCAGTACCTGACGGGGCAGGACGAA
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AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACAGAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGTGTACAGAAACAGTACTGGATACCAGTACCTGACGGGGCAGGACGAA
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Task1_train_12869
|
This alteration occurs within gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) located on Chromosome 9. Is it associated with a disease or is it a benign variant?
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Pathogenic; GNE myopathy
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AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGTGTACAGAAACAGTACTGGATACCAGTACCTGACGGGGCAGGACGAA
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AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACAGAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGTGTACAGAAACAGTACTGGATACCAGTACCTGACGGGGCAGGACGAA
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Task1_train_12870
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A change on Chromosome 9 affects gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; GNE myopathy
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AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACACAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGTGTACAGAAACAGTACTGGATACCAGTACCTGACGGGGCAGGACGAA
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AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTTCCACCAAGAGCAGGTCCTCTGAACAGAGTGAGAAGGAAAAGCAGTCACTAATGAGCTGTGGGGAGGCCAAGCTCACCACTGGGCCTGTGGAAAGCAAGCCCCTACATGGGAAGACGGTGTTTTCTTTTCACAATTGCAAAGCTTATCGTTCACAAACATCTCTATACACTGCCCCTAAAGCCTTTGCTACCCTCTTGCTAATTGGTTGTACATAACCCAGAACCTATCTTCCTGGAAAAACCTCAAGTCTGACGACAGCCTCCTACCCCTCTGGCTCCCTCACTTCTCACTTCCAGTAGCAGACAGTCTTTGAAGTGTTCTTTTCTCCAAATTATCACCCTCCTCCCACATTCACTCCTTCCTTACTCATCCCAGACACAATGCTGTGCCATCTGCCAGCGCCACGCGTTCTATGGCAGCGAGGCACAGTGGCTGAGGAACAGACACAGGCCTGGGGTCAGTGCCAGCTCTGCCACTCCCAGCTGCATGACCCCATGCCTGTCACCTCACCTGTACACATTCCTCCTTCCTAGAAGATGAGACCAGTAGTGCCTCCCCTGGCAGGGTTATTTGAGGAACGGAATGAGATCATGGACATAAAGTATTTAGTTAAGTGCTGGCCACAGTAAATGCTCAGTAAGCAGCAGGTATTTCTGTGGTTATCTGTAGTCCTTGTCTTCTGCCCGTCACCAACTCAGATCAATCTGCCTCCTACTAATCTGCTAGAATATCTGGACCCTGAAGGAGAAAAATCCCCAGCTGTGCAAACTGCAACCTAGACATCAACTGGTGGTCTCCTGTCTCCCCTGGGCCCTCACAGCTCTCACCCATTCTCTCTGACTGCGCTTTTCTATACCTTCACCACCTTCCCAGTCCTTCTACCCCCACTGCCAACAGACGAGCATACTTCTTACCTCTCTCATAGGGGGCACCACCAGGCAGTGATCCCCTACCTTTTTGCTTCCTGTCCCATACACCCATCATCTCGGCTCGCCATGCCCTCTCGTGGACCCTCTGCCTGGCTTTGCAGCTCATCTCTTCCCACCTCTTCAGAACCCTACTGTAGGGCTCTATACACTTCTCTCCTGCACTCTCGGCCTCCACTCCCCATCTCTTTTCCTTCAGCATATGCTCACAAATTGGTTTTGGGGGCCAAAAATCTACACTGTTTTTATGTATGAAGCACAGATATACTACACATACAGTGCATGTATGTGTGATATATACATAACATGTTTTGTCCATTTATTTCTTCATTAAAATGTGTATTAAGTACCCTCCCTGTGATACTGGCTGAGAAAACAAAACTGAAGGAAATCTTCCCTGCTGTCTTGGAACTCTAGACCTCTGTCCACCACCACCCCTGGGGAGGAAGAGTGGCAATATGGGTCAGCCAAGAAGACTGTGCAGTTTTAGTGCGAGGGAGCCCTGCTCTTTCCCTAAGAAGTGAAAAGGGGGAAACTTCTGGCTTCAGTGTTCAGCTGTCTTTGGAATTTCCACTTTGAAGTACTTGTCTACTATTTGGTTACTTAATTCCTCGAGAGAGGGACACCAACCATCATGGAGCTTTTTTGCCTCCCTCTGCAAGGCCATTCCAGAGGCGTATGCTTCAATGCACCCATGGCTTCCACAGGAACAATCAGGCCCATCCAGAGACAGAACAAGGTGGCCCAGTTCTGCAGCACAGAAGGAGCTTCCGTGGATCAATTCATGCTGATGGATAATTCCACCACCGATTCCTACAGCGAGGGATAGAAATCACTGAGGGTGCTTTACCTGAAACAGAAAACTATGATATCACAACGCCTCATCTATTTAGCAGAGCTTTGGCATGTGAGGGTCTATAGATACTTCTTTAGACAGCTGAAGCCCACTAGGCATCAAAGCATTCTCTGGCAGCATTTTGGATGGAAATGTTTTTAGCAGATCCTCTGATGCCCTGTGACCCATCTGCTTGGGTCACTGTGATTTCAAACACAGCTGTGGGGACAGTGCAGCAAAAATGCATGCCCACCTTGTGGGTAGCAGACCCCCTGGCCCAGCACACACTGTCCATCTTTCTGCACCAAGGCTTTCTCTAACACTGAAGCAAGAGCCTACTCAGCCACGCAGGCACAGCACCCAGGGGCAACCTGCAACCGAGGCAAGGCAGGAGCCGGCAGATCCACAGGACAATTCTGGATGCTGTTCTGCAGGCTTCTTAGGAGGTGCTAGTGGAGTTCAGCCCCCTTTGCCCTCAAGTCAACTTCAATAATGTTAATATATCCTTAATGGCTTTCTTCCTGCTCTGTTTCATTCTTCCCACTCACCCTCCTGCTTCTTGTGGTCACCTCCAAAAAACCATACCTGTACCTAAATCCTTGTCTCAGGCTCTGCTCTGAGGAATACCCAAGATAAGTCTTTTAAAATGTATCACACACTACCTGCTTCCTGAAGCAGAAAATATGAAATAATGATTTTGCCTTTTTTGATGCTGCCATGTCTAAAAATCTGTGATTCAATAATTATAAATATCAGTGACTGTCTTTTGTTATGGCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAGATTGTGCGACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCACTCTTTAAATAAATAAATAAATAAGTACATGAGCTTAAAGGGATAGTGGTGTAATGTAGAGTTTAAGCACATACAAGTTTTGAAGTTAGACATATCTGTATCAGATGCTGGCTTAACCGCTTATTAGCTAAGTCTGTTTCCTCATTTAAAAATCAAGTTATACACTTAAAATATATACAACAAAAATAAAATAGAGTAAAAAAACAAAAGTAACAAATTGGGATGTCATAAAAAAATGACAGAGCAGGGAACTCCAAAGGTCCATTCTGCCACTAAAGTGAGGAAAAAACTGGTAAAAATGTCAGAATCAACCTTTTTGGAACTCTGGAAACTAACCAAAGTTTGCAACAAACAGAGGAATGCTTAATTTAAAAAAGAAAAACAAAAACCAGGGCCAGGTGCAGTGGGTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGATCCCTCGAGCCCAGCAGTTTAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTAAAAACAAAACAAAACCAGCTGAATCTTGATAAGAGAACTTTCTGGTGTTGTAACCTACCCTGGTCCCATCACCCACTCTCCAGCTTGGTGGTGACCTTGAACAACAGTCCACACTCCCAGTACTGGTGTACAGAAACAGTACTGGATACCAGTACCTGACGGGGCAGGACGAA
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Task1_train_12871
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A mutation on Chromosome 9 affecting GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not provided
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AGGTCGAGGCTGGCAGATCCCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAACCACTGTCTCTACAAAAAATACAAAAATTAGCCAGGCATGCTGGCATAAGCCTGTAGTCCCATCTACTCAGGAGGCTGAAGCACAAAAATCACTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAACAAAAATACATCTAGAGCTGGGCACAGTGGCATGTGCCTGTGGTCCTAGCTATTATACTTGGGAGGCTGAGGCAGAGGACCATTTAAGCCCAGGACCTTGAGTCCAGTCTGGGAAACATAGGAAGACCTTGTCTCTAAAAAAAAATTTTTTTAAATTAAGAGAATAAAAAATCTAGAGTAGTGCTTCTCAATCTTCGCTGTGCATCAGAATCACCTGGACAGCTTTTAACGAAGAGCGATGCCTGGCCCCCATCCCCAGAGACTCTAATTTAACCAGTCCAGGGTGGGAGCCAAGCATTTTTTTGTCTATTAATAATGTTTTTTGTTTTACCCTATCAATAATCTCCATTTTTGCTATTCCTTCCTTTATTCCCTCATAACTTCCAAAATTATGTGAGATAATGCTGCACAAAACATCTTTCTTTTCTTCTTGATTTCAATGGGAATGCCTCTAGAATTTCACCATTGAAAAAGATGTTGGCCTTTCATATGGAATAAATCATCTTTCTGTTAAGAAACTATTCTTCTATTAGTTTTTGTTTTGTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGTAATCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTGTCCAAGCTGGTCTGAAACTCCTGACCTTAAGTGATCTGCCCACCTGGACTTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCATCCAGCCTTCTATTAGTTTTTAAAAGAGTATTTATAAGGGAGGCCTCTTGGCTTTTCTTGAGAAAATTATGTTTTGTTTTGCTTTCCTTATTTGACCTAATGGTATTAATAAATTTCCTACAACTTTACATTTAAAATCTTTGCTATTTCTCATCGTCTCTGGAAGCTTTATACACTCACACTATTTCAAACCAAGATTTTTCTAGTAGGTTTATTCTAAGTCATTAGAGATCACTTTAACATGAACAGTTTGTTATTTTTATGAATGTTCTCTCACCTGTCAACACTGGGTGATGGTTTGGTTAACAGATTGAAGGTATGCTGTACTCAATAAAGAGCAGAACTGTAAAAATGCAAAATGGAAAATCCACACAACTGATCACATTCTAGAGAAGAGGCAGCTCCCTTCACCATTTGCTGATACCCCTCACCTGGGCAGTGATAGTAATCAGCATACTCCACACTCCAAGCTGTTACCAAGTATAGAATTTCAGGTCTTTTGGGTGGCAAAAGCCCGATCTGATGCCTAAAGGGGTCTTCCCACTGTCAAGTCTACCGTCTTGGATTCCCAAAGAATTTACTTCTTTGAAATGTTAATGATCAGTAAAATAGTGAGACAAACATTGTAAAGGATCCACAAGTCAATACTATCAGCAAATGATTACAAGCTCTTGTGTATGTTTCTAGTCTTACCTTCCAACTATATATACTTAAAAAAAAAATCAATCGCTCATATGGGATATAAAGTTAGGAGTTTAGGAGTTATTTTACCTTCATGCTGACTATTGCAACTCGGAGGTTCGTCCCGCCAAGATCAACGGCCAAGGCACTTAGAGTTTCAAGAATATGGTCAATATCTTGAGAGATATTCTCCTTCACAGGAGGAAAGCAGAATTTCTTTTGCAGTGGCTCTTGAAGATCGATAGATTTGAGAAACTTCAAAATCCTTGGAACAGCATTTCCATCCCCATATATCTTTGAACTGCAATATACAAAAAGTCAATTAAATTATATGCTTCTGCCATACATGTTAAGTGGTAGTGAGGGTATAATGTAATGGAAACTGAGACTTCAGGTAAAAATAATTCATGCTTCTTCCTAAAGTGACATCTTCCTGCCGTGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGGCTGAGGCAGGAAGATTGCTTGAGCCCAAGAGTTTGAGACCAGCCTGGGCAACACAGACATAGCAACTCTATCTCTACAAAAAGTAATTTTAAAAATCATGTTTAAAGAAATAAATAGGCTGGGTGCAGTGGCTCATACCTGTAATCCTAGCACTTTGGGAGGTCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTCAAGATCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAAAAATTAGCCAGGCGTTGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAACTGCTTGAACCCGGGAAGCGGAGGTTGCAGTGAGTCGAGATCGCACCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAACAACCAACAATAACAAAAAAGAAATAAAATAACATCTCCACAAGATATACATACTTCAGAACATCATGTTGTACACAATAAATACATACAATTTTATCTGTCAATTAAAAGTTAAAAACTATAAATCATAATTATACAGAACTAAAAAAATTTTATATAAAATAATATCTAGATCTCTTCAGCAACATTGTAACTAAGTGCCTGTATTTTTTTGCTTTTTTTAGTTTTTATCTTTATATTTCTGAGAAAACAAAATTATTTTCAGAAAGAAATATTCAAATACAGGGAAATCTCATCGATTTGAAACAGAAAGGAGGGTGGTCAAAATTAATTAAAAAGCTGAACTAGACTTTTTAAAAAAAATCAGTTACATTATTTTCTAATATTTATAGAAAGCCAAAGAAGGTTAAATAAGTGTAGCAAAAGTGTTGTATTAATTAAGAGAAACAAATAAAATAAGGCTGGGCGCAGTGACTCACACCTGTAATCCCAGCGCTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTTGAGACCAGCTTGCCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATGGCGCCACTGCACTCTATCCTGGGCAACAGATCAAGAGTCCATCTCAAAAAAAAAAAAAAAAAAAAGAAATAAAATATGTATTCTACATTGGAACCTTTGGAACAGTAATAATGGGTATGATATTAGCAATCCCTGTCTCCCCAGCAACTAGGGGCCCGTAGGCATAAGAAGGAAAGCTCTGTTAGGATGATTAAACAGTGATTGTAGCTTTAAAATGGTACTGAAGGTAGCTCCCCTTTTAAATCACTCAACAAAGAATGTTTTATACTCACCAAGGGTACTGTTTACCAAACTGAAGGTGCAGTGCTTGCAATATTTTGTCTTGGGTGTCAGCATCCCGGACATGAAGAACATTCTCCCCTAGGTAAAACCAGTGACACATTACAAGGATTTGGAAGTGGGAATATCCAAAGAATAAAGAAATTATCAGTGTACTATGCTCATAATTAGACCTGAAATCCAGCTGACTTCAGGTTAAGTCTTTTGTTAGGGAAAATTCAACTTTTCTACTTTATACCTTTTAAAGTACTCTTGGCAAGATTTCAGTACATCAAACACTTAAGGGCCCTAGGGTCCTTTATTCCCAAGGAGAACAAATCAAGTTTTTGTTTATTAAAATAAATAAGGTAGACCAACCTGGCATCCACTTACCATTTGCCTAGTCATCTATGAGATTCACTCTCTTTCAACCTGCCCTGCCTTCCATCTACTCAGCCAGTGGTTCACTTGGCTGGTCAGGCAGT
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AGGTCGAGGCTGGCAGATCCCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAACCACTGTCTCTACAAAAAATACAAAAATTAGCCAGGCATGCTGGCATAAGCCTGTAGTCCCATCTACTCAGGAGGCTGAAGCACAAAAATCACTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAACAAAAATACATCTAGAGCTGGGCACAGTGGCATGTGCCTGTGGTCCTAGCTATTATACTTGGGAGGCTGAGGCAGAGGACCATTTAAGCCCAGGACCTTGAGTCCAGTCTGGGAAACATAGGAAGACCTTGTCTCTAAAAAAAAATTTTTTTAAATTAAGAGAATAAAAAATCTAGAGTAGTGCTTCTCAATCTTCGCTGTGCATCAGAATCACCTGGACAGCTTTTAACGAAGAGCGATGCCTGGCCCCCATCCCCAGAGACTCTAATTTAACCAGTCCAGGGTGGGAGCCAAGCATTTTTTTGTCTATTAATAATGTTTTTTGTTTTACCCTATCAATAATCTCCATTTTTGCTATTCCTTCCTTTATTCCCTCATAACTTCCAAAATTATGTGAGATAATGCTGCACAAAACATCTTTCTTTTCTTCTTGATTTCAATGGGAATGCCTCTAGAATTTCACCATTGAAAAAGATGTTGGCCTTTCATATGGAATAAATCATCTTTCTGTTAAGAAACTATTCTTCTATTAGTTTTTGTTTTGTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGTAATCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTGTCCAAGCTGGTCTGAAACTCCTGACCTTAAGTGATCTGCCCACCTGGACTTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCATCCAGCCTTCTATTAGTTTTTAAAAGAGTATTTATAAGGGAGGCCTCTTGGCTTTTCTTGAGAAAATTATGTTTTGTTTTGCTTTCCTTATTTGACCTAATGGTATTAATAAATTTCCTACAACTTTACATTTAAAATCTTTGCTATTTCTCATCGTCTCTGGAAGCTTTATACACTCACACTATTTCAAACCAAGATTTTTCTAGTAGGTTTATTCTAAGTCATTAGAGATCACTTTAACATGAACAGTTTGTTATTTTTATGAATGTTCTCTCACCTGTCAACACTGGGTGATGGTTTGGTTAACAGATTGAAGGTATGCTGTACTCAATAAAGAGCAGAACTGTAAAAATGCAAAATGGAAAATCCACACAACTGATCACATTCTAGAGAAGAGGCAGCTCCCTTCACCATTTGCTGATACCCCTCACCTGGGCAGTGATAGTAATCAGCATACTCCACACTCCAAGCTGTTACCAAGTATAGAATTTCAGGTCTTTTGGGTGGCAAAAGCCCGATCTGATGCCTAAAGGGGTCTTCCCACTGTCAAGTCTACCGTCTTGGATTCCCAAAGAATTTACTTCTTTGAAATGTTAATGATCAGTAAAATAGTGAGACAAACATTGTAAAGGATCCACAAGTCAATACTATCAGCAAATGATTACAAGCTCTTGTGTATGTTTCTAGTCTTACCTTCCAACTATATATACTTAAAAAAAAAATCAATCGCTCATATGGGATATAAAGTTAGGAGTTTAGGAGTTATTTTACCTTCATGCTGACTATTGCAACTCGGAGGTTCGTCCCGCCAAGATCAACGGCCAAGGCACTTAGAGTTTCAAGAATATGGTCAATATCTTGAGAGATATTCTCCTTCACAGGAGGAAAGCAGAATTTCTTTTGCAGTGGCTCTTGAAGATCGATAGATTTGAGAAACTTCAAAATCCTTGGAACAGCATTTCCATCCTCATATATCTTTGAACTGCAATATACAAAAAGTCAATTAAATTATATGCTTCTGCCATACATGTTAAGTGGTAGTGAGGGTATAATGTAATGGAAACTGAGACTTCAGGTAAAAATAATTCATGCTTCTTCCTAAAGTGACATCTTCCTGCCGTGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGGCTGAGGCAGGAAGATTGCTTGAGCCCAAGAGTTTGAGACCAGCCTGGGCAACACAGACATAGCAACTCTATCTCTACAAAAAGTAATTTTAAAAATCATGTTTAAAGAAATAAATAGGCTGGGTGCAGTGGCTCATACCTGTAATCCTAGCACTTTGGGAGGTCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTCAAGATCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAAAAATTAGCCAGGCGTTGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAACTGCTTGAACCCGGGAAGCGGAGGTTGCAGTGAGTCGAGATCGCACCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAACAACCAACAATAACAAAAAAGAAATAAAATAACATCTCCACAAGATATACATACTTCAGAACATCATGTTGTACACAATAAATACATACAATTTTATCTGTCAATTAAAAGTTAAAAACTATAAATCATAATTATACAGAACTAAAAAAATTTTATATAAAATAATATCTAGATCTCTTCAGCAACATTGTAACTAAGTGCCTGTATTTTTTTGCTTTTTTTAGTTTTTATCTTTATATTTCTGAGAAAACAAAATTATTTTCAGAAAGAAATATTCAAATACAGGGAAATCTCATCGATTTGAAACAGAAAGGAGGGTGGTCAAAATTAATTAAAAAGCTGAACTAGACTTTTTAAAAAAAATCAGTTACATTATTTTCTAATATTTATAGAAAGCCAAAGAAGGTTAAATAAGTGTAGCAAAAGTGTTGTATTAATTAAGAGAAACAAATAAAATAAGGCTGGGCGCAGTGACTCACACCTGTAATCCCAGCGCTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTTGAGACCAGCTTGCCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATGGCGCCACTGCACTCTATCCTGGGCAACAGATCAAGAGTCCATCTCAAAAAAAAAAAAAAAAAAAAGAAATAAAATATGTATTCTACATTGGAACCTTTGGAACAGTAATAATGGGTATGATATTAGCAATCCCTGTCTCCCCAGCAACTAGGGGCCCGTAGGCATAAGAAGGAAAGCTCTGTTAGGATGATTAAACAGTGATTGTAGCTTTAAAATGGTACTGAAGGTAGCTCCCCTTTTAAATCACTCAACAAAGAATGTTTTATACTCACCAAGGGTACTGTTTACCAAACTGAAGGTGCAGTGCTTGCAATATTTTGTCTTGGGTGTCAGCATCCCGGACATGAAGAACATTCTCCCCTAGGTAAAACCAGTGACACATTACAAGGATTTGGAAGTGGGAATATCCAAAGAATAAAGAAATTATCAGTGTACTATGCTCATAATTAGACCTGAAATCCAGCTGACTTCAGGTTAAGTCTTTTGTTAGGGAAAATTCAACTTTTCTACTTTATACCTTTTAAAGTACTCTTGGCAAGATTTCAGTACATCAAACACTTAAGGGCCCTAGGGTCCTTTATTCCCAAGGAGAACAAATCAAGTTTTTGTTTATTAAAATAAATAAGGTAGACCAACCTGGCATCCACTTACCATTTGCCTAGTCATCTATGAGATTCACTCTCTTTCAACCTGCCCTGCCTTCCATCTACTCAGCCAGTGGTTCACTTGGCTGGTCAGGCAGT
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Task1_train_12872
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The gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Sialuria
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CTAGCTCTGCTCTTTCTCCAATTCTTCATAATTGCCACCTTTCTGTTATATTTACATCTTCTTCCCTTCTCATTCCCAGCATATCACTGCCCAATCAGAAATCTAGGCTTCCTTGTTGATTCCTTTCACCTCCGCATCCAAGCATCAGCAAGTACTATAACAAGACCCAAATCTAACTTTTTTCCATCTCTAATACTTCATCAAAGCCACTATCATCTCTCATCTGAGCAACTGAATCAGCCCCCTTACTGGTCTCCCTGCTTTTATTCTTGCCCCCCCGCCCCCCCTCCCGACATTCCATTCTGTATATTAGCAACCGGAGTGATCTTTCCAAAATGCAACTCTTGTCATGTCATTCCTTCCCATTACACTTAGAAAAAATTCCAAATGACTTACCCTGGCTTACATGCATCTGTTTCCTTCTCTAACATCACCTGTATCACTCTGCCTCTTGCTCACTACTCTACAGCCACAATAGCGCTTCCATTTCTCAAATACACCAAGTTCACCTCCCGGCCCTCACACTGGCTGTTGCCACTGCCTCTCCCTGATCCTCACATAGCTGACTCCTTGTCATTCAGATTTCAGCTTAGGTGTCATCTCCTTAAAGAGGCCTTCCTTTAACCAATCTAATGGAGTCCATCATATACCTTGTGTTACAGCAGGCACAGCATATAGAATTCCTGATATTTTTCTTATTTCTTTTGTGTATGTCTATCATCTATCTCCTCTCCCACTAGAATGTAAGTTACACGAGAGCCCAGCTCTTCTTGGTCTAGTTTATTGCCAAATCCCAGTGCCTAGTACATGGTAGGTGTTTACTAAATATTTTCTAAATAAATGAATTGAGGAATTTGAAAGAATTTCCATCTCATGGCTTCCATTTTCTCTATGAAGTGGGGAGTAAAGTAATATGCTGGGAATGAGAAGGGAAGAAGATCTAAATATAACAGAAAGGTGGCAATTATGAAGAACTGGAGAAAGAGCAGAGCTAGAACTCATCTCCTTGGTTCTAGTCCAGTTCTTTTTCCTTTAATGATACACACTTTTCCATTACAGCTTCCATTAAATTCCACTGCATGTAAACAGGATTAGAACTTGAACTAATGTTAATAACAGGACCTAGCTCAGTTAGCAAATTCATTAATAATAATCCTACTTATACTTAAGGGGCACTTTACTTAGAACTACCATACTCTAAAGTACTGACTGAAGGGATTCTACATTAGGCCCAGAAAATAAAAGACTAGCATTCATATATTCATGAAACATTCAACCACATTCTCTCTTAAACACAGCCATGAAAGACCATAATTAAAAACCACTTAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAAAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCTTGGTGGCTGACGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCTACTGCACCCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGAAAGAACCACTTAGTGCTAATTGATATTACAAAGACAATAAAATGTAAGTAGAGATCTAAAATATTTGGTAATCACTGTGTGCTATTTATCGACTATAGATTTTAGGCTTCAACTGGTTATTAACCTCATTCACTCACTTGTTCACAAAATATATGCTCAGTACTGATATATGCATACCTTATAACAACTCACGTATGTATAAAGCCTAGTCAGTTGAAGTATGAGCAAAGGTAAATACCTGTTTCTCTTCCAATCTGACGTGTTCCCAGGTTGATCACAGGTGTTCCAAAAGCTCCAACTTCTCGAACCCCACAGCTGCTGTTCCCAATCATACAGCCAGCATGGGCAACCAACTGTATAAACTGGTCAAATGGGACGTGTTTAACTGCACGAAAGTTGGGATGATGCTCAATGCCCTTCTTCCGCATCACTCGAACCATCTCTTTGCTCCCTATGAAAATGAAAAGAACCAATTGGTAAATGGTTTGTGAGATAAAGAAACCATTTTCATTGGCAAGTATAGCCCACGTAAAGAAATCTCCCTAAAAAAACCTCACATCAGTTATTAGGGAAATAGTAATTTTAACTACTGGCTTTTTCATGAATGATGGATATCTAAAATGTCCTCTGCTTCACTCATCTAGGAACTCAAAAAGCAGCAGTTGGGACTTTTCAAACAGAACTAGGCAAAGCAAATAACTTTTATCAATGCCCTAGTAAAAGCCTTTACCTTAAACAACAATTAAGAGGCTAAAGACAGGCCAACAGCCTGTATCTCTTAACCTGAGAGTTCCCAAATGGAACCCTCTCAGGCTCCACACACCAAGCTGATGAGAGAGCCTCTGCCCAGCTACACTCACCTTTACACTAACAAGAACTCGGTGGGATAGCACTCCCATTTATATGAACTAAACTCCAAGAAAATACACATAGATTCTGATAACTGTGGCTTCTATTTTAACTGCATGACTTAATAAAAATTTAAAGATACATGAAGGGGAGGCAATATTTAATGTCCCTCTGCTTGCCTCTCAACTGACCCCCTCCTAACTACCCCATACCTAGGGAGGAAAATTGCTAACCTGACTGGTTAGAAGGCAGAGGTCTGACCACACCATGCTTACCACTGGGCAGGTGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACACCAGAAGGCACCACTACTATTCCAAGATTCAGGTTTCGATTCAGTTGAAAGCCCCTCTTTGGCTTAAGGCTTCGATAATCCATTTTCCGGAGGGAGTCCTGTACTGGGGAACAGGGCACTAAGCCAGATAATGATAAAGTGATGCCTTGATTCTTATTTTCCTATTGTTCCCTGTGTATAGCTTATCAAAAACCCTGTGGAGGGTAGAGGCAAGTGGCAGCCATGACTTAGATATACCTGGGACCCTTTACTTTCATAGAAAAAAAATACCTCTAATTCTAAAGTATATACAGCCAGGAAAGTGTATTATAAACAGAATATATCATTGACAATGAATGCTGAACGAGAATGATACATAGTTACATTACACATATTTATAAAAAATTTAAAGGTCAGAAAAGAATAAATATTAACATTTTTGAAATATTGATACATTACCTGGAAAAAATCTGGGTTGGGTATTCTTAAATTTTTTTCCAACTAATATCCTACTTTGTTCTCCCTAACAGAAAAGATTCTTCAAGGGAATACTAAGACAGGGGTTCTTTCAGAGTAAGTTGGTGATATCTTGACATTGCAGAGAATGGGTTCTGCCTCCTTTACCAAAAAAAAGCCTAAGAACTCAACAATGAGTGGTGTCAGCTAAAGATAACCAGTGTTTGGAAATTCTTCAGTGTTAGGCTATGTTCTGACATTTCTCATTAATATCTCACACCCCCATTAACTCGCCTAAGGTCTCAGCAGTACCAAAATCTATAGTACCATCCACTGGTAAGCAAGTGATCAGCCAGGGCAGGCTTGAGGATGAACCGGTTGGGACTGGCTGGGGACTCCAGATTTAAACTGCTTCAGCTCAAGATTACTTTAAGGTATAGCTAACATAAATATGAAAGAAAGCAAGAAAAAATATTAGTGGCT
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CTAGCTCTGCTCTTTCTCCAATTCTTCATAATTGCCACCTTTCTGTTATATTTACATCTTCTTCCCTTCTCATTCCCAGCATATCACTGCCCAATCAGAAATCTAGGCTTCCTTGTTGATTCCTTTCACCTCCGCATCCAAGCATCAGCAAGTACTATAACAAGACCCAAATCTAACTTTTTTCCATCTCTAATACTTCATCAAAGCCACTATCATCTCTCATCTGAGCAACTGAATCAGCCCCCTTACTGGTCTCCCTGCTTTTATTCTTGCCCCCCCGCCCCCCCTCCCGACATTCCATTCTGTATATTAGCAACCGGAGTGATCTTTCCAAAATGCAACTCTTGTCATGTCATTCCTTCCCATTACACTTAGAAAAAATTCCAAATGACTTACCCTGGCTTACATGCATCTGTTTCCTTCTCTAACATCACCTGTATCACTCTGCCTCTTGCTCACTACTCTACAGCCACAATAGCGCTTCCATTTCTCAAATACACCAAGTTCACCTCCCGGCCCTCACACTGGCTGTTGCCACTGCCTCTCCCTGATCCTCACATAGCTGACTCCTTGTCATTCAGATTTCAGCTTAGGTGTCATCTCCTTAAAGAGGCCTTCCTTTAACCAATCTAATGGAGTCCATCATATACCTTGTGTTACAGCAGGCACAGCATATAGAATTCCTGATATTTTTCTTATTTCTTTTGTGTATGTCTATCATCTATCTCCTCTCCCACTAGAATGTAAGTTACACGAGAGCCCAGCTCTTCTTGGTCTAGTTTATTGCCAAATCCCAGTGCCTAGTACATGGTAGGTGTTTACTAAATATTTTCTAAATAAATGAATTGAGGAATTTGAAAGAATTTCCATCTCATGGCTTCCATTTTCTCTATGAAGTGGGGAGTAAAGTAATATGCTGGGAATGAGAAGGGAAGAAGATCTAAATATAACAGAAAGGTGGCAATTATGAAGAACTGGAGAAAGAGCAGAGCTAGAACTCATCTCCTTGGTTCTAGTCCAGTTCTTTTTCCTTTAATGATACACACTTTTCCATTACAGCTTCCATTAAATTCCACTGCATGTAAACAGGATTAGAACTTGAACTAATGTTAATAACAGGACCTAGCTCAGTTAGCAAATTCATTAATAATAATCCTACTTATACTTAAGGGGCACTTTACTTAGAACTACCATACTCTAAAGTACTGACTGAAGGGATTCTACATTAGGCCCAGAAAATAAAAGACTAGCATTCATATATTCATGAAACATTCAACCACATTCTCTCTTAAACACAGCCATGAAAGACCATAATTAAAAACCACTTAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAAAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCTTGGTGGCTGACGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCTACTGCACCCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGAAAGAACCACTTAGTGCTAATTGATATTACAAAGACAATAAAATGTAAGTAGAGATCTAAAATATTTGGTAATCACTGTGTGCTATTTATCGACTATAGATTTTAGGCTTCAACTGGTTATTAACCTCATTCACTCACTTGTTCACAAAATATATGCTCAGTACTGATATATGCATACCTTATAACAACTCACGTATGTATAAAGCCTAGTCAGTTGAAGTATGAGCAAAGGTAAATACCTGTTTCTCTTCCAATCTGACGTGTTCCCAGGTTGATCACAGGTGTTCCAAAAGCTCCAACTTCTCGAACCCCACAGCTGCTGTTCCCAATCATACAGCCAGCATGGGCAACCAACTGTATAAACTGGTCAAATGGGACGTGTTTAACTGCACGAAAGTTGGGATGATGCTCAATGCCCTTCTTCTGCATCACTCGAACCATCTCTTTGCTCCCTATGAAAATGAAAAGAACCAATTGGTAAATGGTTTGTGAGATAAAGAAACCATTTTCATTGGCAAGTATAGCCCACGTAAAGAAATCTCCCTAAAAAAACCTCACATCAGTTATTAGGGAAATAGTAATTTTAACTACTGGCTTTTTCATGAATGATGGATATCTAAAATGTCCTCTGCTTCACTCATCTAGGAACTCAAAAAGCAGCAGTTGGGACTTTTCAAACAGAACTAGGCAAAGCAAATAACTTTTATCAATGCCCTAGTAAAAGCCTTTACCTTAAACAACAATTAAGAGGCTAAAGACAGGCCAACAGCCTGTATCTCTTAACCTGAGAGTTCCCAAATGGAACCCTCTCAGGCTCCACACACCAAGCTGATGAGAGAGCCTCTGCCCAGCTACACTCACCTTTACACTAACAAGAACTCGGTGGGATAGCACTCCCATTTATATGAACTAAACTCCAAGAAAATACACATAGATTCTGATAACTGTGGCTTCTATTTTAACTGCATGACTTAATAAAAATTTAAAGATACATGAAGGGGAGGCAATATTTAATGTCCCTCTGCTTGCCTCTCAACTGACCCCCTCCTAACTACCCCATACCTAGGGAGGAAAATTGCTAACCTGACTGGTTAGAAGGCAGAGGTCTGACCACACCATGCTTACCACTGGGCAGGTGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACACCAGAAGGCACCACTACTATTCCAAGATTCAGGTTTCGATTCAGTTGAAAGCCCCTCTTTGGCTTAAGGCTTCGATAATCCATTTTCCGGAGGGAGTCCTGTACTGGGGAACAGGGCACTAAGCCAGATAATGATAAAGTGATGCCTTGATTCTTATTTTCCTATTGTTCCCTGTGTATAGCTTATCAAAAACCCTGTGGAGGGTAGAGGCAAGTGGCAGCCATGACTTAGATATACCTGGGACCCTTTACTTTCATAGAAAAAAAATACCTCTAATTCTAAAGTATATACAGCCAGGAAAGTGTATTATAAACAGAATATATCATTGACAATGAATGCTGAACGAGAATGATACATAGTTACATTACACATATTTATAAAAAATTTAAAGGTCAGAAAAGAATAAATATTAACATTTTTGAAATATTGATACATTACCTGGAAAAAATCTGGGTTGGGTATTCTTAAATTTTTTTCCAACTAATATCCTACTTTGTTCTCCCTAACAGAAAAGATTCTTCAAGGGAATACTAAGACAGGGGTTCTTTCAGAGTAAGTTGGTGATATCTTGACATTGCAGAGAATGGGTTCTGCCTCCTTTACCAAAAAAAAGCCTAAGAACTCAACAATGAGTGGTGTCAGCTAAAGATAACCAGTGTTTGGAAATTCTTCAGTGTTAGGCTATGTTCTGACATTTCTCATTAATATCTCACACCCCCATTAACTCGCCTAAGGTCTCAGCAGTACCAAAATCTATAGTACCATCCACTGGTAAGCAAGTGATCAGCCAGGGCAGGCTTGAGGATGAACCGGTTGGGACTGGCTGGGGACTCCAGATTTAAACTGCTTCAGCTCAAGATTACTTTAAGGTATAGCTAACATAAATATGAAAGAAAGCAAGAAAAAATATTAGTGGCT
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Task1_train_12873
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Gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; GNE myopathy
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CTAGCTCTGCTCTTTCTCCAATTCTTCATAATTGCCACCTTTCTGTTATATTTACATCTTCTTCCCTTCTCATTCCCAGCATATCACTGCCCAATCAGAAATCTAGGCTTCCTTGTTGATTCCTTTCACCTCCGCATCCAAGCATCAGCAAGTACTATAACAAGACCCAAATCTAACTTTTTTCCATCTCTAATACTTCATCAAAGCCACTATCATCTCTCATCTGAGCAACTGAATCAGCCCCCTTACTGGTCTCCCTGCTTTTATTCTTGCCCCCCCGCCCCCCCTCCCGACATTCCATTCTGTATATTAGCAACCGGAGTGATCTTTCCAAAATGCAACTCTTGTCATGTCATTCCTTCCCATTACACTTAGAAAAAATTCCAAATGACTTACCCTGGCTTACATGCATCTGTTTCCTTCTCTAACATCACCTGTATCACTCTGCCTCTTGCTCACTACTCTACAGCCACAATAGCGCTTCCATTTCTCAAATACACCAAGTTCACCTCCCGGCCCTCACACTGGCTGTTGCCACTGCCTCTCCCTGATCCTCACATAGCTGACTCCTTGTCATTCAGATTTCAGCTTAGGTGTCATCTCCTTAAAGAGGCCTTCCTTTAACCAATCTAATGGAGTCCATCATATACCTTGTGTTACAGCAGGCACAGCATATAGAATTCCTGATATTTTTCTTATTTCTTTTGTGTATGTCTATCATCTATCTCCTCTCCCACTAGAATGTAAGTTACACGAGAGCCCAGCTCTTCTTGGTCTAGTTTATTGCCAAATCCCAGTGCCTAGTACATGGTAGGTGTTTACTAAATATTTTCTAAATAAATGAATTGAGGAATTTGAAAGAATTTCCATCTCATGGCTTCCATTTTCTCTATGAAGTGGGGAGTAAAGTAATATGCTGGGAATGAGAAGGGAAGAAGATCTAAATATAACAGAAAGGTGGCAATTATGAAGAACTGGAGAAAGAGCAGAGCTAGAACTCATCTCCTTGGTTCTAGTCCAGTTCTTTTTCCTTTAATGATACACACTTTTCCATTACAGCTTCCATTAAATTCCACTGCATGTAAACAGGATTAGAACTTGAACTAATGTTAATAACAGGACCTAGCTCAGTTAGCAAATTCATTAATAATAATCCTACTTATACTTAAGGGGCACTTTACTTAGAACTACCATACTCTAAAGTACTGACTGAAGGGATTCTACATTAGGCCCAGAAAATAAAAGACTAGCATTCATATATTCATGAAACATTCAACCACATTCTCTCTTAAACACAGCCATGAAAGACCATAATTAAAAACCACTTAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAAAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCTTGGTGGCTGACGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCTACTGCACCCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGAAAGAACCACTTAGTGCTAATTGATATTACAAAGACAATAAAATGTAAGTAGAGATCTAAAATATTTGGTAATCACTGTGTGCTATTTATCGACTATAGATTTTAGGCTTCAACTGGTTATTAACCTCATTCACTCACTTGTTCACAAAATATATGCTCAGTACTGATATATGCATACCTTATAACAACTCACGTATGTATAAAGCCTAGTCAGTTGAAGTATGAGCAAAGGTAAATACCTGTTTCTCTTCCAATCTGACGTGTTCCCAGGTTGATCACAGGTGTTCCAAAAGCTCCAACTTCTCGAACCCCACAGCTGCTGTTCCCAATCATACAGCCAGCATGGGCAACCAACTGTATAAACTGGTCAAATGGGACGTGTTTAACTGCACGAAAGTTGGGATGATGCTCAATGCCCTTCTTCCGCATCACTCGAACCATCTCTTTGCTCCCTATGAAAATGAAAAGAACCAATTGGTAAATGGTTTGTGAGATAAAGAAACCATTTTCATTGGCAAGTATAGCCCACGTAAAGAAATCTCCCTAAAAAAACCTCACATCAGTTATTAGGGAAATAGTAATTTTAACTACTGGCTTTTTCATGAATGATGGATATCTAAAATGTCCTCTGCTTCACTCATCTAGGAACTCAAAAAGCAGCAGTTGGGACTTTTCAAACAGAACTAGGCAAAGCAAATAACTTTTATCAATGCCCTAGTAAAAGCCTTTACCTTAAACAACAATTAAGAGGCTAAAGACAGGCCAACAGCCTGTATCTCTTAACCTGAGAGTTCCCAAATGGAACCCTCTCAGGCTCCACACACCAAGCTGATGAGAGAGCCTCTGCCCAGCTACACTCACCTTTACACTAACAAGAACTCGGTGGGATAGCACTCCCATTTATATGAACTAAACTCCAAGAAAATACACATAGATTCTGATAACTGTGGCTTCTATTTTAACTGCATGACTTAATAAAAATTTAAAGATACATGAAGGGGAGGCAATATTTAATGTCCCTCTGCTTGCCTCTCAACTGACCCCCTCCTAACTACCCCATACCTAGGGAGGAAAATTGCTAACCTGACTGGTTAGAAGGCAGAGGTCTGACCACACCATGCTTACCACTGGGCAGGTGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACACCAGAAGGCACCACTACTATTCCAAGATTCAGGTTTCGATTCAGTTGAAAGCCCCTCTTTGGCTTAAGGCTTCGATAATCCATTTTCCGGAGGGAGTCCTGTACTGGGGAACAGGGCACTAAGCCAGATAATGATAAAGTGATGCCTTGATTCTTATTTTCCTATTGTTCCCTGTGTATAGCTTATCAAAAACCCTGTGGAGGGTAGAGGCAAGTGGCAGCCATGACTTAGATATACCTGGGACCCTTTACTTTCATAGAAAAAAAATACCTCTAATTCTAAAGTATATACAGCCAGGAAAGTGTATTATAAACAGAATATATCATTGACAATGAATGCTGAACGAGAATGATACATAGTTACATTACACATATTTATAAAAAATTTAAAGGTCAGAAAAGAATAAATATTAACATTTTTGAAATATTGATACATTACCTGGAAAAAATCTGGGTTGGGTATTCTTAAATTTTTTTCCAACTAATATCCTACTTTGTTCTCCCTAACAGAAAAGATTCTTCAAGGGAATACTAAGACAGGGGTTCTTTCAGAGTAAGTTGGTGATATCTTGACATTGCAGAGAATGGGTTCTGCCTCCTTTACCAAAAAAAAGCCTAAGAACTCAACAATGAGTGGTGTCAGCTAAAGATAACCAGTGTTTGGAAATTCTTCAGTGTTAGGCTATGTTCTGACATTTCTCATTAATATCTCACACCCCCATTAACTCGCCTAAGGTCTCAGCAGTACCAAAATCTATAGTACCATCCACTGGTAAGCAAGTGATCAGCCAGGGCAGGCTTGAGGATGAACCGGTTGGGACTGGCTGGGGACTCCAGATTTAAACTGCTTCAGCTCAAGATTACTTTAAGGTATAGCTAACATAAATATGAAAGAAAGCAAGAAAAAATATTAGTGGCT
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CTAGCTCTGCTCTTTCTCCAATTCTTCATAATTGCCACCTTTCTGTTATATTTACATCTTCTTCCCTTCTCATTCCCAGCATATCACTGCCCAATCAGAAATCTAGGCTTCCTTGTTGATTCCTTTCACCTCCGCATCCAAGCATCAGCAAGTACTATAACAAGACCCAAATCTAACTTTTTTCCATCTCTAATACTTCATCAAAGCCACTATCATCTCTCATCTGAGCAACTGAATCAGCCCCCTTACTGGTCTCCCTGCTTTTATTCTTGCCCCCCCGCCCCCCCTCCCGACATTCCATTCTGTATATTAGCAACCGGAGTGATCTTTCCAAAATGCAACTCTTGTCATGTCATTCCTTCCCATTACACTTAGAAAAAATTCCAAATGACTTACCCTGGCTTACATGCATCTGTTTCCTTCTCTAACATCACCTGTATCACTCTGCCTCTTGCTCACTACTCTACAGCCACAATAGCGCTTCCATTTCTCAAATACACCAAGTTCACCTCCCGGCCCTCACACTGGCTGTTGCCACTGCCTCTCCCTGATCCTCACATAGCTGACTCCTTGTCATTCAGATTTCAGCTTAGGTGTCATCTCCTTAAAGAGGCCTTCCTTTAACCAATCTAATGGAGTCCATCATATACCTTGTGTTACAGCAGGCACAGCATATAGAATTCCTGATATTTTTCTTATTTCTTTTGTGTATGTCTATCATCTATCTCCTCTCCCACTAGAATGTAAGTTACACGAGAGCCCAGCTCTTCTTGGTCTAGTTTATTGCCAAATCCCAGTGCCTAGTACATGGTAGGTGTTTACTAAATATTTTCTAAATAAATGAATTGAGGAATTTGAAAGAATTTCCATCTCATGGCTTCCATTTTCTCTATGAAGTGGGGAGTAAAGTAATATGCTGGGAATGAGAAGGGAAGAAGATCTAAATATAACAGAAAGGTGGCAATTATGAAGAACTGGAGAAAGAGCAGAGCTAGAACTCATCTCCTTGGTTCTAGTCCAGTTCTTTTTCCTTTAATGATACACACTTTTCCATTACAGCTTCCATTAAATTCCACTGCATGTAAACAGGATTAGAACTTGAACTAATGTTAATAACAGGACCTAGCTCAGTTAGCAAATTCATTAATAATAATCCTACTTATACTTAAGGGGCACTTTACTTAGAACTACCATACTCTAAAGTACTGACTGAAGGGATTCTACATTAGGCCCAGAAAATAAAAGACTAGCATTCATATATTCATGAAACATTCAACCACATTCTCTCTTAAACACAGCCATGAAAGACCATAATTAAAAACCACTTAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAAAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCTTGGTGGCTGACGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCTACTGCACCCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGAAAGAACCACTTAGTGCTAATTGATATTACAAAGACAATAAAATGTAAGTAGAGATCTAAAATATTTGGTAATCACTGTGTGCTATTTATCGACTATAGATTTTAGGCTTCAACTGGTTATTAACCTCATTCACTCACTTGTTCACAAAATATATGCTCAGTACTGATATATGCATACCTTATAACAACTCACGTATGTATAAAGCCTAGTCAGTTGAAGTATGAGCAAAGGTAAATACCTGTTTCTCTTCCAATCTGACGTGTTCCCAGGTTGATCACAGGTGTTCCAAAAGCTCCAACTTCTCGAACCCCACAGCTGCTGTTCCCAATCATACAGCCAGCATGGGCAACCAACTGTATAAACTGGTCAAATGGGACGTGTTTAACTGCACGAAAGTTGGGATGATGCTCAATGCCCTTCTTCTGCATCACTCGAACCATCTCTTTGCTCCCTATGAAAATGAAAAGAACCAATTGGTAAATGGTTTGTGAGATAAAGAAACCATTTTCATTGGCAAGTATAGCCCACGTAAAGAAATCTCCCTAAAAAAACCTCACATCAGTTATTAGGGAAATAGTAATTTTAACTACTGGCTTTTTCATGAATGATGGATATCTAAAATGTCCTCTGCTTCACTCATCTAGGAACTCAAAAAGCAGCAGTTGGGACTTTTCAAACAGAACTAGGCAAAGCAAATAACTTTTATCAATGCCCTAGTAAAAGCCTTTACCTTAAACAACAATTAAGAGGCTAAAGACAGGCCAACAGCCTGTATCTCTTAACCTGAGAGTTCCCAAATGGAACCCTCTCAGGCTCCACACACCAAGCTGATGAGAGAGCCTCTGCCCAGCTACACTCACCTTTACACTAACAAGAACTCGGTGGGATAGCACTCCCATTTATATGAACTAAACTCCAAGAAAATACACATAGATTCTGATAACTGTGGCTTCTATTTTAACTGCATGACTTAATAAAAATTTAAAGATACATGAAGGGGAGGCAATATTTAATGTCCCTCTGCTTGCCTCTCAACTGACCCCCTCCTAACTACCCCATACCTAGGGAGGAAAATTGCTAACCTGACTGGTTAGAAGGCAGAGGTCTGACCACACCATGCTTACCACTGGGCAGGTGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACACCAGAAGGCACCACTACTATTCCAAGATTCAGGTTTCGATTCAGTTGAAAGCCCCTCTTTGGCTTAAGGCTTCGATAATCCATTTTCCGGAGGGAGTCCTGTACTGGGGAACAGGGCACTAAGCCAGATAATGATAAAGTGATGCCTTGATTCTTATTTTCCTATTGTTCCCTGTGTATAGCTTATCAAAAACCCTGTGGAGGGTAGAGGCAAGTGGCAGCCATGACTTAGATATACCTGGGACCCTTTACTTTCATAGAAAAAAAATACCTCTAATTCTAAAGTATATACAGCCAGGAAAGTGTATTATAAACAGAATATATCATTGACAATGAATGCTGAACGAGAATGATACATAGTTACATTACACATATTTATAAAAAATTTAAAGGTCAGAAAAGAATAAATATTAACATTTTTGAAATATTGATACATTACCTGGAAAAAATCTGGGTTGGGTATTCTTAAATTTTTTTCCAACTAATATCCTACTTTGTTCTCCCTAACAGAAAAGATTCTTCAAGGGAATACTAAGACAGGGGTTCTTTCAGAGTAAGTTGGTGATATCTTGACATTGCAGAGAATGGGTTCTGCCTCCTTTACCAAAAAAAAGCCTAAGAACTCAACAATGAGTGGTGTCAGCTAAAGATAACCAGTGTTTGGAAATTCTTCAGTGTTAGGCTATGTTCTGACATTTCTCATTAATATCTCACACCCCCATTAACTCGCCTAAGGTCTCAGCAGTACCAAAATCTATAGTACCATCCACTGGTAAGCAAGTGATCAGCCAGGGCAGGCTTGAGGATGAACCGGTTGGGACTGGCTGGGGACTCCAGATTTAAACTGCTTCAGCTCAAGATTACTTTAAGGTATAGCTAACATAAATATGAAAGAAAGCAAGAAAAAATATTAGTGGCT
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Task1_train_12874
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A variant on Chromosome 9 in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Sialuria
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CTAGCTCTGCTCTTTCTCCAATTCTTCATAATTGCCACCTTTCTGTTATATTTACATCTTCTTCCCTTCTCATTCCCAGCATATCACTGCCCAATCAGAAATCTAGGCTTCCTTGTTGATTCCTTTCACCTCCGCATCCAAGCATCAGCAAGTACTATAACAAGACCCAAATCTAACTTTTTTCCATCTCTAATACTTCATCAAAGCCACTATCATCTCTCATCTGAGCAACTGAATCAGCCCCCTTACTGGTCTCCCTGCTTTTATTCTTGCCCCCCCGCCCCCCCTCCCGACATTCCATTCTGTATATTAGCAACCGGAGTGATCTTTCCAAAATGCAACTCTTGTCATGTCATTCCTTCCCATTACACTTAGAAAAAATTCCAAATGACTTACCCTGGCTTACATGCATCTGTTTCCTTCTCTAACATCACCTGTATCACTCTGCCTCTTGCTCACTACTCTACAGCCACAATAGCGCTTCCATTTCTCAAATACACCAAGTTCACCTCCCGGCCCTCACACTGGCTGTTGCCACTGCCTCTCCCTGATCCTCACATAGCTGACTCCTTGTCATTCAGATTTCAGCTTAGGTGTCATCTCCTTAAAGAGGCCTTCCTTTAACCAATCTAATGGAGTCCATCATATACCTTGTGTTACAGCAGGCACAGCATATAGAATTCCTGATATTTTTCTTATTTCTTTTGTGTATGTCTATCATCTATCTCCTCTCCCACTAGAATGTAAGTTACACGAGAGCCCAGCTCTTCTTGGTCTAGTTTATTGCCAAATCCCAGTGCCTAGTACATGGTAGGTGTTTACTAAATATTTTCTAAATAAATGAATTGAGGAATTTGAAAGAATTTCCATCTCATGGCTTCCATTTTCTCTATGAAGTGGGGAGTAAAGTAATATGCTGGGAATGAGAAGGGAAGAAGATCTAAATATAACAGAAAGGTGGCAATTATGAAGAACTGGAGAAAGAGCAGAGCTAGAACTCATCTCCTTGGTTCTAGTCCAGTTCTTTTTCCTTTAATGATACACACTTTTCCATTACAGCTTCCATTAAATTCCACTGCATGTAAACAGGATTAGAACTTGAACTAATGTTAATAACAGGACCTAGCTCAGTTAGCAAATTCATTAATAATAATCCTACTTATACTTAAGGGGCACTTTACTTAGAACTACCATACTCTAAAGTACTGACTGAAGGGATTCTACATTAGGCCCAGAAAATAAAAGACTAGCATTCATATATTCATGAAACATTCAACCACATTCTCTCTTAAACACAGCCATGAAAGACCATAATTAAAAACCACTTAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAAAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCTTGGTGGCTGACGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCTACTGCACCCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGAAAGAACCACTTAGTGCTAATTGATATTACAAAGACAATAAAATGTAAGTAGAGATCTAAAATATTTGGTAATCACTGTGTGCTATTTATCGACTATAGATTTTAGGCTTCAACTGGTTATTAACCTCATTCACTCACTTGTTCACAAAATATATGCTCAGTACTGATATATGCATACCTTATAACAACTCACGTATGTATAAAGCCTAGTCAGTTGAAGTATGAGCAAAGGTAAATACCTGTTTCTCTTCCAATCTGACGTGTTCCCAGGTTGATCACAGGTGTTCCAAAAGCTCCAACTTCTCGAACCCCACAGCTGCTGTTCCCAATCATACAGCCAGCATGGGCAACCAACTGTATAAACTGGTCAAATGGGACGTGTTTAACTGCACGAAAGTTGGGATGATGCTCAATGCCCTTCTTCCGCATCACTCGAACCATCTCTTTGCTCCCTATGAAAATGAAAAGAACCAATTGGTAAATGGTTTGTGAGATAAAGAAACCATTTTCATTGGCAAGTATAGCCCACGTAAAGAAATCTCCCTAAAAAAACCTCACATCAGTTATTAGGGAAATAGTAATTTTAACTACTGGCTTTTTCATGAATGATGGATATCTAAAATGTCCTCTGCTTCACTCATCTAGGAACTCAAAAAGCAGCAGTTGGGACTTTTCAAACAGAACTAGGCAAAGCAAATAACTTTTATCAATGCCCTAGTAAAAGCCTTTACCTTAAACAACAATTAAGAGGCTAAAGACAGGCCAACAGCCTGTATCTCTTAACCTGAGAGTTCCCAAATGGAACCCTCTCAGGCTCCACACACCAAGCTGATGAGAGAGCCTCTGCCCAGCTACACTCACCTTTACACTAACAAGAACTCGGTGGGATAGCACTCCCATTTATATGAACTAAACTCCAAGAAAATACACATAGATTCTGATAACTGTGGCTTCTATTTTAACTGCATGACTTAATAAAAATTTAAAGATACATGAAGGGGAGGCAATATTTAATGTCCCTCTGCTTGCCTCTCAACTGACCCCCTCCTAACTACCCCATACCTAGGGAGGAAAATTGCTAACCTGACTGGTTAGAAGGCAGAGGTCTGACCACACCATGCTTACCACTGGGCAGGTGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACACCAGAAGGCACCACTACTATTCCAAGATTCAGGTTTCGATTCAGTTGAAAGCCCCTCTTTGGCTTAAGGCTTCGATAATCCATTTTCCGGAGGGAGTCCTGTACTGGGGAACAGGGCACTAAGCCAGATAATGATAAAGTGATGCCTTGATTCTTATTTTCCTATTGTTCCCTGTGTATAGCTTATCAAAAACCCTGTGGAGGGTAGAGGCAAGTGGCAGCCATGACTTAGATATACCTGGGACCCTTTACTTTCATAGAAAAAAAATACCTCTAATTCTAAAGTATATACAGCCAGGAAAGTGTATTATAAACAGAATATATCATTGACAATGAATGCTGAACGAGAATGATACATAGTTACATTACACATATTTATAAAAAATTTAAAGGTCAGAAAAGAATAAATATTAACATTTTTGAAATATTGATACATTACCTGGAAAAAATCTGGGTTGGGTATTCTTAAATTTTTTTCCAACTAATATCCTACTTTGTTCTCCCTAACAGAAAAGATTCTTCAAGGGAATACTAAGACAGGGGTTCTTTCAGAGTAAGTTGGTGATATCTTGACATTGCAGAGAATGGGTTCTGCCTCCTTTACCAAAAAAAAGCCTAAGAACTCAACAATGAGTGGTGTCAGCTAAAGATAACCAGTGTTTGGAAATTCTTCAGTGTTAGGCTATGTTCTGACATTTCTCATTAATATCTCACACCCCCATTAACTCGCCTAAGGTCTCAGCAGTACCAAAATCTATAGTACCATCCACTGGTAAGCAAGTGATCAGCCAGGGCAGGCTTGAGGATGAACCGGTTGGGACTGGCTGGGGACTCCAGATTTAAACTGCTTCAGCTCAAGATTACTTTAAGGTATAGCTAACATAAATATGAAAGAAAGCAAGAAAAAATATTAGTGGCT
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CTAGCTCTGCTCTTTCTCCAATTCTTCATAATTGCCACCTTTCTGTTATATTTACATCTTCTTCCCTTCTCATTCCCAGCATATCACTGCCCAATCAGAAATCTAGGCTTCCTTGTTGATTCCTTTCACCTCCGCATCCAAGCATCAGCAAGTACTATAACAAGACCCAAATCTAACTTTTTTCCATCTCTAATACTTCATCAAAGCCACTATCATCTCTCATCTGAGCAACTGAATCAGCCCCCTTACTGGTCTCCCTGCTTTTATTCTTGCCCCCCCGCCCCCCCTCCCGACATTCCATTCTGTATATTAGCAACCGGAGTGATCTTTCCAAAATGCAACTCTTGTCATGTCATTCCTTCCCATTACACTTAGAAAAAATTCCAAATGACTTACCCTGGCTTACATGCATCTGTTTCCTTCTCTAACATCACCTGTATCACTCTGCCTCTTGCTCACTACTCTACAGCCACAATAGCGCTTCCATTTCTCAAATACACCAAGTTCACCTCCCGGCCCTCACACTGGCTGTTGCCACTGCCTCTCCCTGATCCTCACATAGCTGACTCCTTGTCATTCAGATTTCAGCTTAGGTGTCATCTCCTTAAAGAGGCCTTCCTTTAACCAATCTAATGGAGTCCATCATATACCTTGTGTTACAGCAGGCACAGCATATAGAATTCCTGATATTTTTCTTATTTCTTTTGTGTATGTCTATCATCTATCTCCTCTCCCACTAGAATGTAAGTTACACGAGAGCCCAGCTCTTCTTGGTCTAGTTTATTGCCAAATCCCAGTGCCTAGTACATGGTAGGTGTTTACTAAATATTTTCTAAATAAATGAATTGAGGAATTTGAAAGAATTTCCATCTCATGGCTTCCATTTTCTCTATGAAGTGGGGAGTAAAGTAATATGCTGGGAATGAGAAGGGAAGAAGATCTAAATATAACAGAAAGGTGGCAATTATGAAGAACTGGAGAAAGAGCAGAGCTAGAACTCATCTCCTTGGTTCTAGTCCAGTTCTTTTTCCTTTAATGATACACACTTTTCCATTACAGCTTCCATTAAATTCCACTGCATGTAAACAGGATTAGAACTTGAACTAATGTTAATAACAGGACCTAGCTCAGTTAGCAAATTCATTAATAATAATCCTACTTATACTTAAGGGGCACTTTACTTAGAACTACCATACTCTAAAGTACTGACTGAAGGGATTCTACATTAGGCCCAGAAAATAAAAGACTAGCATTCATATATTCATGAAACATTCAACCACATTCTCTCTTAAACACAGCCATGAAAGACCATAATTAAAAACCACTTAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAAAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCTTGGTGGCTGACGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCTACTGCACCCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGAAAGAACCACTTAGTGCTAATTGATATTACAAAGACAATAAAATGTAAGTAGAGATCTAAAATATTTGGTAATCACTGTGTGCTATTTATCGACTATAGATTTTAGGCTTCAACTGGTTATTAACCTCATTCACTCACTTGTTCACAAAATATATGCTCAGTACTGATATATGCATACCTTATAACAACTCACGTATGTATAAAGCCTAGTCAGTTGAAGTATGAGCAAAGGTAAATACCTGTTTCTCTTCCAATCTGACGTGTTCCCAGGTTGATCACAGGTGTTCCAAAAGCTCCAACTTCTCGAACCCCACAGCTGCTGTTCCCAATCATACAGCCAGCATGGGCAACCAACTGTATAAACTGGTCAAATGGGACGTGTTTAACTGCACGAAAGTTGGGATGATGCTCAATGCCCTTCTTCTGCATCACTCGAACCATCTCTTTGCTCCCTATGAAAATGAAAAGAACCAATTGGTAAATGGTTTGTGAGATAAAGAAACCATTTTCATTGGCAAGTATAGCCCACGTAAAGAAATCTCCCTAAAAAAACCTCACATCAGTTATTAGGGAAATAGTAATTTTAACTACTGGCTTTTTCATGAATGATGGATATCTAAAATGTCCTCTGCTTCACTCATCTAGGAACTCAAAAAGCAGCAGTTGGGACTTTTCAAACAGAACTAGGCAAAGCAAATAACTTTTATCAATGCCCTAGTAAAAGCCTTTACCTTAAACAACAATTAAGAGGCTAAAGACAGGCCAACAGCCTGTATCTCTTAACCTGAGAGTTCCCAAATGGAACCCTCTCAGGCTCCACACACCAAGCTGATGAGAGAGCCTCTGCCCAGCTACACTCACCTTTACACTAACAAGAACTCGGTGGGATAGCACTCCCATTTATATGAACTAAACTCCAAGAAAATACACATAGATTCTGATAACTGTGGCTTCTATTTTAACTGCATGACTTAATAAAAATTTAAAGATACATGAAGGGGAGGCAATATTTAATGTCCCTCTGCTTGCCTCTCAACTGACCCCCTCCTAACTACCCCATACCTAGGGAGGAAAATTGCTAACCTGACTGGTTAGAAGGCAGAGGTCTGACCACACCATGCTTACCACTGGGCAGGTGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACACCAGAAGGCACCACTACTATTCCAAGATTCAGGTTTCGATTCAGTTGAAAGCCCCTCTTTGGCTTAAGGCTTCGATAATCCATTTTCCGGAGGGAGTCCTGTACTGGGGAACAGGGCACTAAGCCAGATAATGATAAAGTGATGCCTTGATTCTTATTTTCCTATTGTTCCCTGTGTATAGCTTATCAAAAACCCTGTGGAGGGTAGAGGCAAGTGGCAGCCATGACTTAGATATACCTGGGACCCTTTACTTTCATAGAAAAAAAATACCTCTAATTCTAAAGTATATACAGCCAGGAAAGTGTATTATAAACAGAATATATCATTGACAATGAATGCTGAACGAGAATGATACATAGTTACATTACACATATTTATAAAAAATTTAAAGGTCAGAAAAGAATAAATATTAACATTTTTGAAATATTGATACATTACCTGGAAAAAATCTGGGTTGGGTATTCTTAAATTTTTTTCCAACTAATATCCTACTTTGTTCTCCCTAACAGAAAAGATTCTTCAAGGGAATACTAAGACAGGGGTTCTTTCAGAGTAAGTTGGTGATATCTTGACATTGCAGAGAATGGGTTCTGCCTCCTTTACCAAAAAAAAGCCTAAGAACTCAACAATGAGTGGTGTCAGCTAAAGATAACCAGTGTTTGGAAATTCTTCAGTGTTAGGCTATGTTCTGACATTTCTCATTAATATCTCACACCCCCATTAACTCGCCTAAGGTCTCAGCAGTACCAAAATCTATAGTACCATCCACTGGTAAGCAAGTGATCAGCCAGGGCAGGCTTGAGGATGAACCGGTTGGGACTGGCTGGGGACTCCAGATTTAAACTGCTTCAGCTCAAGATTACTTTAAGGTATAGCTAACATAAATATGAAAGAAAGCAAGAAAAAATATTAGTGGCT
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Task1_train_12875
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Consider a variant on Chromosome 9 in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Determine its clinical classification and disease relevance.
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Pathogenic; Thrombocytopenia 12 with or without myopathy
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TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACACCAGAAGGCACCACTACTATTCCAAGATTCAGGTTTCGATTCAGTTGAAAGCCCCTCTTTGGCTTAAGGCTTCGATAATCCATTTTCCGGAGGGAGTCCTGTACTGGGGAACAGGGCACTAAGCCAGATAATGATAAAGTGATGCCTTGATTCTTATTTTCCTATTGTTCCCTGTGTATAGCTTATCAAAAACCCTGTGGAGGGTAGAGGCAAGTGGCAGCCATGACTTAGATATACCTGGGACCCTTTACTTTCATAGAAAAAAAATACCTCTAATTCTAAAGTATATACAGCCAGGAAAGTGTATTATAAACAGAATATATCATTGACAATGAATGCTGAACGAGAATGATACATAGTTACATTACACATATTTATAAAAAATTTAAAGGTCAGAAAAGAATAAATATTAACATTTTTGAAATATTGATACATTACCTGGAAAAAATCTGGGTTGGGTATTCTTAAATTTTTTTCCAACTAATATCCTACTTTGTTCTCCCTAACAGAAAAGATTCTTCAAGGGAATACTAAGACAGGGGTTCTTTCAGAGTAAGTTGGTGATATCTTGACATTGCAGAGAATGGGTTCTGCCTCCTTTACCAAAAAAAAGCCTAAGAACTCAACAATGAGTGGTGTCAGCTAAAGATAACCAGTGTTTGGAAATTCTTCAGTGTTAGGCTATGTTCTGACATTTCTCATTAATATCTCACACCCCCATTAACTCGCCTAAGGTCTCAGCAGTACCAAAATCTATAGTACCATCCACTGGTAAGCAAGTGATCAGCCAGGGCAGGCTTGAGGATGAACCGGTTGGGACTGGCTGGGGACTCCAGATTTAAACTGCTTCAGCTCAAGATTACTTTAAGGTATAGCTAACATAAATATGAAAGAAAGCAAGAAAAAATATTAGTGGCTATTTTACTGTGGATAGTGGAATCACTACTTTTCTAGAGATTCTTTCACTTCAACTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACTGAGACTAGTGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCCCACCACTGTGGCTGGCTAATTATTGTATTTTAGCAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGTTCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGACCATCTTTCACTTCAACTTCTAAGATTTATGTCTCTTGGCTTCTGCAGTTTCTTAACTGGTGGAAACTGGAGGGAAAATATTAGTACTAAACATGAGACTAAAGTAGACAGTAGACAGACTTTTTATTATTAAGTTTCTACTGGACTTGGCAAAAACATTACAAACTTTTTGAGTTATAGCAAAATTGGTAATCCTTTGAAAATTGGAATGCATTTCAGAATAGAGTGCCCTTCAATGATAAGATGAGCAAGATAGGAAGGCAGTTAAAAGAAGTAATAGAAACATAAAATTGGGAAAAGTAGGTGGCATAATTTCATTTTCAAGTTCAATTACCTGCGTCAATATTTGGAAACAGGACTAGGGTCCGCTTGTTAAATGAGATAAGTGCATCCAATGTTAATTCAAACATTTTTATGGAATGCTTAATGTCAGTGGTCACAGGGTGCTGTAGTGCAACAATGTAATCTTTAGATTTTACATCATCACCTGTTTAAAGAAAATCAAACCACATTGCTTCATTAGTTAAGAATCTTAAAAGAGAAAGAAGCAAATTCTGAAAGCAAGACTCTAAGTCTGTGCTTTTAAAAATTCTACGATAGAAACAGTTTGTCAAATTGTGAACAGGGCATCCAAATTAGAGTCAAATGATAAGAATTTACAGCAACAAATCCAAGTATTCAGCAAACTTAACATTTTACAAAGACATGCTGCCACAAACATAACTTTAAATAGCAGGCACTAGAAATTCACTGTTTTAAAACCCAAACTATTCCAAAGCACTCAAAAAATGTGACTCTTCCCAATTTCTAACTAATGTTTTTAGTGAATATTCAGCAATATCAATGAATAATAATATGTTGCATATCAGGGCATTTTGAGGCTGAACAAGCATTAAACATATTTCCTAGAATGCACAGGAGCTTTCCTGTACTATCACCTACCAGATTCAACAAGTGGCAAGTGTTTCTAACTCTGTTAAAGGACTAGGAGAGTTTCGCTCATCCCTAGGCTGGGATCCCAAGGACGGTTCCTCAGCAAAAATTTAAAAGGTAAAAAGTTTAGATTGACAGTGCTATGTCAAACAACGCAAGGTATTTACCAATAGGGCCTATATTATCCCATAAAACTGAAAGTGAGCTCCACTTACTTTTTTTTTTAATTAAGTTTATTTATTTTTCCATAAGTTATTGGGGTATTAGGTGGTATTTGGTTACATGAGTTAGTTCTTTGGTGGTGATTTGTGAGATTTTGGTGCACCCATCACCTGAGCAGTATACTCTGTACCATATTTGTAGTCTTCTATCCCTCGCCCCCTCCTACTCTTCCCCCCAAGTCCCCAAAGTCCACTGTATCATTCTTAGGCCTTTGCATCCTCATAGCTTAGCTTCCACATATCAGTGAGAGCATACAATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTGTCCAGTCTCATCTAGGTCACTGCAAATGCTGTTAATTCATTCCTTTTTATGGCTGCATAGTATTCCATCATAGATACAGATATAGATGTAGATATATAGATGTAGATATATATAGATACACACACACACATAGATATATAGATGTAGATATAAATAGATATATATAGATACACACACACACACACACACACATATATATACACACCACCGTTTCTTTATCCAATCATTGATTAATGGGCATTTGGTTGGTTCCATGACTTTGCAATTGTGAATTGTGCTGCTATAAACATGCGTGTGCAAGTATCTTTTTCAAATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGAATTGCTGGATCAAATGGTAGTTTTCCATAGCGGCTGTACTAGTTTACATTCACACCAGCAGTGTAGAAGTGTTCCTGATCACCACATCCACGCCAGCATCTACTGTTTTTTGATTTTTTGATTATGGCCATTCTTACAGGAGTAAGGCGGCATCGCATTATGGTTTTGATTTGCATTTCCCTGATCATTAGTGATGTTCAGCATTTTTTCATATGTTTGTTGGCCATTTGTATATTTTCTTTTGAGAATTGTCTATTCATGTCCTTAGCCCACTTTTTTATGGGACTTTTTCTTACTGATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGTCTTTTGTCAGATGTATAGATTGTGAAGATTTTCTCCCACTCTGTGGTTGTCTGTTTACTCTGCTATTCCTTTTGCTGTGCAAAAGCTCTTTAGTTTAATTAGGTCCAGGCTATTTATCTTTGTTTTATCGTATTTGCTTTTGGGTTCTTGGTCATGAAATCCTTGCCTAAGCCAATGTCTAGAAGGGGTTTTCCCATGTAATCTTCTAGAATTTTTATAGTTTCAGATCTTAAAGTCCTTAATCCATCTTGAGTTGATTTTTGTATAAGG
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TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACACCAGAAGGCACCACTACTATTCCAAGATTCAGGTTTCGATTCAGTTGAAAGCCCCTCTTTGGCTTAAGGCTTCGATAATCCATTTTCCGGAGGGAGTCCTGTACTGGGGAACAGGGCACTAAGCCAGATAATGATAAAGTGATGCCTTGATTCTTATTTTCCTATTGTTCCCTGTGTATAGCTTATCAAAAACCCTGTGGAGGGTAGAGGCAAGTGGCAGCCATGACTTAGATATACCTGGGACCCTTTACTTTCATAGAAAAAAAATACCTCTAATTCTAAAGTATATACAGCCAGGAAAGTGTATTATAAACAGAATATATCATTGACAATGAATGCTGAACGAGAATGATACATAGTTACATTACACATATTTATAAAAAATTTAAAGGTCAGAAAAGAATAAATATTAACATTTTTGAAATATTGATACATTACCTGGAAAAAATCTGGGTTGGGTATTCTTAAATTTTTTTCCAACTAATATCCTACTTTGTTCTCCCTAACAGAAAAGATTCTTCAAGGGAATACTAAGACAGGGGTTCTTTCAGAGTAAGTTGGTGATATCTTGACATTGCAGAGAATGGGTTCTGCCTCCTTTACCAAAAAAAAGCCTAAGAACTCAACAATGAGTGGTGTCAGCTAAAGATAACCAGTGTTTGGAAATTCTTCAGTGTTAGGCTATGTTCTGACATTTCTCATTAATATCTCACACCCCCATTAACTCGCCTAAGGTCTCAGCAGTACCAAAATCTATAGTACCATCCACTGGTAAGCAAGTGATCAGCCAGGGCAGGCTTGAGGATGAACCGGTTGGGACTGGCTGGGGACTCCAGATTTAAACTGCTTCAGCTCAAGATTACTTTAAGGTATAGCTAACATAAATATGAAAGAAAGCAAGAAAAAATATTAGTGGCTATTTTACTGTGGATAGTGGAATCACTACTTTTCTAGAGATTCTTTCACTTCAACTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACTGAGACTAGTGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCCCACCACTGTGGCTGGCTAATTATTGTATTTTAGCAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGTTCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGACCATCTTTCACTTCAACTTCTAAGATTTATGTCTCTTGGCTTCTGCAGTTTCTTAACTGGTGGAAACTGGAGGGAAAATATTAGTACTAAACATGAGACTAAAGTAGACAGTAGACAGACTTTTTATTATTAAGTTTCTACTGGACTTGGCAAAAACATTACAAACTTTTTGAGTTATAGCAAAATTGGTAATCCTTTGAAAATTGGAATGCATTTCAGAATAGAGTGCCCTTCAATGATAAGATGAGCAAGATAGGAAGGCAGTTAAAAGAAGTAATAGAAACATAAAATTGGGAAAAGTAGGTGGCATAATTTCATTTTCAAGTTCAATTACCTGCGTCAATATTTGGAAACAGGACTAGGGTCCACTTGTTAAATGAGATAAGTGCATCCAATGTTAATTCAAACATTTTTATGGAATGCTTAATGTCAGTGGTCACAGGGTGCTGTAGTGCAACAATGTAATCTTTAGATTTTACATCATCACCTGTTTAAAGAAAATCAAACCACATTGCTTCATTAGTTAAGAATCTTAAAAGAGAAAGAAGCAAATTCTGAAAGCAAGACTCTAAGTCTGTGCTTTTAAAAATTCTACGATAGAAACAGTTTGTCAAATTGTGAACAGGGCATCCAAATTAGAGTCAAATGATAAGAATTTACAGCAACAAATCCAAGTATTCAGCAAACTTAACATTTTACAAAGACATGCTGCCACAAACATAACTTTAAATAGCAGGCACTAGAAATTCACTGTTTTAAAACCCAAACTATTCCAAAGCACTCAAAAAATGTGACTCTTCCCAATTTCTAACTAATGTTTTTAGTGAATATTCAGCAATATCAATGAATAATAATATGTTGCATATCAGGGCATTTTGAGGCTGAACAAGCATTAAACATATTTCCTAGAATGCACAGGAGCTTTCCTGTACTATCACCTACCAGATTCAACAAGTGGCAAGTGTTTCTAACTCTGTTAAAGGACTAGGAGAGTTTCGCTCATCCCTAGGCTGGGATCCCAAGGACGGTTCCTCAGCAAAAATTTAAAAGGTAAAAAGTTTAGATTGACAGTGCTATGTCAAACAACGCAAGGTATTTACCAATAGGGCCTATATTATCCCATAAAACTGAAAGTGAGCTCCACTTACTTTTTTTTTTAATTAAGTTTATTTATTTTTCCATAAGTTATTGGGGTATTAGGTGGTATTTGGTTACATGAGTTAGTTCTTTGGTGGTGATTTGTGAGATTTTGGTGCACCCATCACCTGAGCAGTATACTCTGTACCATATTTGTAGTCTTCTATCCCTCGCCCCCTCCTACTCTTCCCCCCAAGTCCCCAAAGTCCACTGTATCATTCTTAGGCCTTTGCATCCTCATAGCTTAGCTTCCACATATCAGTGAGAGCATACAATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTGTCCAGTCTCATCTAGGTCACTGCAAATGCTGTTAATTCATTCCTTTTTATGGCTGCATAGTATTCCATCATAGATACAGATATAGATGTAGATATATAGATGTAGATATATATAGATACACACACACACATAGATATATAGATGTAGATATAAATAGATATATATAGATACACACACACACACACACACACATATATATACACACCACCGTTTCTTTATCCAATCATTGATTAATGGGCATTTGGTTGGTTCCATGACTTTGCAATTGTGAATTGTGCTGCTATAAACATGCGTGTGCAAGTATCTTTTTCAAATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGAATTGCTGGATCAAATGGTAGTTTTCCATAGCGGCTGTACTAGTTTACATTCACACCAGCAGTGTAGAAGTGTTCCTGATCACCACATCCACGCCAGCATCTACTGTTTTTTGATTTTTTGATTATGGCCATTCTTACAGGAGTAAGGCGGCATCGCATTATGGTTTTGATTTGCATTTCCCTGATCATTAGTGATGTTCAGCATTTTTTCATATGTTTGTTGGCCATTTGTATATTTTCTTTTGAGAATTGTCTATTCATGTCCTTAGCCCACTTTTTTATGGGACTTTTTCTTACTGATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGTCTTTTGTCAGATGTATAGATTGTGAAGATTTTCTCCCACTCTGTGGTTGTCTGTTTACTCTGCTATTCCTTTTGCTGTGCAAAAGCTCTTTAGTTTAATTAGGTCCAGGCTATTTATCTTTGTTTTATCGTATTTGCTTTTGGGTTCTTGGTCATGAAATCCTTGCCTAAGCCAATGTCTAGAAGGGGTTTTCCCATGTAATCTTCTAGAATTTTTATAGTTTCAGATCTTAAAGTCCTTAATCCATCTTGAGTTGATTTTTGTATAAGG
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Task1_train_12876
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This genomic variant is located on Chromosome 9, within the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; GNE myopathy
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TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACACCAGAAGGCACCACTACTATTCCAAGATTCAGGTTTCGATTCAGTTGAAAGCCCCTCTTTGGCTTAAGGCTTCGATAATCCATTTTCCGGAGGGAGTCCTGTACTGGGGAACAGGGCACTAAGCCAGATAATGATAAAGTGATGCCTTGATTCTTATTTTCCTATTGTTCCCTGTGTATAGCTTATCAAAAACCCTGTGGAGGGTAGAGGCAAGTGGCAGCCATGACTTAGATATACCTGGGACCCTTTACTTTCATAGAAAAAAAATACCTCTAATTCTAAAGTATATACAGCCAGGAAAGTGTATTATAAACAGAATATATCATTGACAATGAATGCTGAACGAGAATGATACATAGTTACATTACACATATTTATAAAAAATTTAAAGGTCAGAAAAGAATAAATATTAACATTTTTGAAATATTGATACATTACCTGGAAAAAATCTGGGTTGGGTATTCTTAAATTTTTTTCCAACTAATATCCTACTTTGTTCTCCCTAACAGAAAAGATTCTTCAAGGGAATACTAAGACAGGGGTTCTTTCAGAGTAAGTTGGTGATATCTTGACATTGCAGAGAATGGGTTCTGCCTCCTTTACCAAAAAAAAGCCTAAGAACTCAACAATGAGTGGTGTCAGCTAAAGATAACCAGTGTTTGGAAATTCTTCAGTGTTAGGCTATGTTCTGACATTTCTCATTAATATCTCACACCCCCATTAACTCGCCTAAGGTCTCAGCAGTACCAAAATCTATAGTACCATCCACTGGTAAGCAAGTGATCAGCCAGGGCAGGCTTGAGGATGAACCGGTTGGGACTGGCTGGGGACTCCAGATTTAAACTGCTTCAGCTCAAGATTACTTTAAGGTATAGCTAACATAAATATGAAAGAAAGCAAGAAAAAATATTAGTGGCTATTTTACTGTGGATAGTGGAATCACTACTTTTCTAGAGATTCTTTCACTTCAACTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACTGAGACTAGTGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCCCACCACTGTGGCTGGCTAATTATTGTATTTTAGCAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGTTCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGACCATCTTTCACTTCAACTTCTAAGATTTATGTCTCTTGGCTTCTGCAGTTTCTTAACTGGTGGAAACTGGAGGGAAAATATTAGTACTAAACATGAGACTAAAGTAGACAGTAGACAGACTTTTTATTATTAAGTTTCTACTGGACTTGGCAAAAACATTACAAACTTTTTGAGTTATAGCAAAATTGGTAATCCTTTGAAAATTGGAATGCATTTCAGAATAGAGTGCCCTTCAATGATAAGATGAGCAAGATAGGAAGGCAGTTAAAAGAAGTAATAGAAACATAAAATTGGGAAAAGTAGGTGGCATAATTTCATTTTCAAGTTCAATTACCTGCGTCAATATTTGGAAACAGGACTAGGGTCCGCTTGTTAAATGAGATAAGTGCATCCAATGTTAATTCAAACATTTTTATGGAATGCTTAATGTCAGTGGTCACAGGGTGCTGTAGTGCAACAATGTAATCTTTAGATTTTACATCATCACCTGTTTAAAGAAAATCAAACCACATTGCTTCATTAGTTAAGAATCTTAAAAGAGAAAGAAGCAAATTCTGAAAGCAAGACTCTAAGTCTGTGCTTTTAAAAATTCTACGATAGAAACAGTTTGTCAAATTGTGAACAGGGCATCCAAATTAGAGTCAAATGATAAGAATTTACAGCAACAAATCCAAGTATTCAGCAAACTTAACATTTTACAAAGACATGCTGCCACAAACATAACTTTAAATAGCAGGCACTAGAAATTCACTGTTTTAAAACCCAAACTATTCCAAAGCACTCAAAAAATGTGACTCTTCCCAATTTCTAACTAATGTTTTTAGTGAATATTCAGCAATATCAATGAATAATAATATGTTGCATATCAGGGCATTTTGAGGCTGAACAAGCATTAAACATATTTCCTAGAATGCACAGGAGCTTTCCTGTACTATCACCTACCAGATTCAACAAGTGGCAAGTGTTTCTAACTCTGTTAAAGGACTAGGAGAGTTTCGCTCATCCCTAGGCTGGGATCCCAAGGACGGTTCCTCAGCAAAAATTTAAAAGGTAAAAAGTTTAGATTGACAGTGCTATGTCAAACAACGCAAGGTATTTACCAATAGGGCCTATATTATCCCATAAAACTGAAAGTGAGCTCCACTTACTTTTTTTTTTAATTAAGTTTATTTATTTTTCCATAAGTTATTGGGGTATTAGGTGGTATTTGGTTACATGAGTTAGTTCTTTGGTGGTGATTTGTGAGATTTTGGTGCACCCATCACCTGAGCAGTATACTCTGTACCATATTTGTAGTCTTCTATCCCTCGCCCCCTCCTACTCTTCCCCCCAAGTCCCCAAAGTCCACTGTATCATTCTTAGGCCTTTGCATCCTCATAGCTTAGCTTCCACATATCAGTGAGAGCATACAATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTGTCCAGTCTCATCTAGGTCACTGCAAATGCTGTTAATTCATTCCTTTTTATGGCTGCATAGTATTCCATCATAGATACAGATATAGATGTAGATATATAGATGTAGATATATATAGATACACACACACACATAGATATATAGATGTAGATATAAATAGATATATATAGATACACACACACACACACACACACATATATATACACACCACCGTTTCTTTATCCAATCATTGATTAATGGGCATTTGGTTGGTTCCATGACTTTGCAATTGTGAATTGTGCTGCTATAAACATGCGTGTGCAAGTATCTTTTTCAAATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGAATTGCTGGATCAAATGGTAGTTTTCCATAGCGGCTGTACTAGTTTACATTCACACCAGCAGTGTAGAAGTGTTCCTGATCACCACATCCACGCCAGCATCTACTGTTTTTTGATTTTTTGATTATGGCCATTCTTACAGGAGTAAGGCGGCATCGCATTATGGTTTTGATTTGCATTTCCCTGATCATTAGTGATGTTCAGCATTTTTTCATATGTTTGTTGGCCATTTGTATATTTTCTTTTGAGAATTGTCTATTCATGTCCTTAGCCCACTTTTTTATGGGACTTTTTCTTACTGATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGTCTTTTGTCAGATGTATAGATTGTGAAGATTTTCTCCCACTCTGTGGTTGTCTGTTTACTCTGCTATTCCTTTTGCTGTGCAAAAGCTCTTTAGTTTAATTAGGTCCAGGCTATTTATCTTTGTTTTATCGTATTTGCTTTTGGGTTCTTGGTCATGAAATCCTTGCCTAAGCCAATGTCTAGAAGGGGTTTTCCCATGTAATCTTCTAGAATTTTTATAGTTTCAGATCTTAAAGTCCTTAATCCATCTTGAGTTGATTTTTGTATAAGG
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TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACACCAGAAGGCACCACTACTATTCCAAGATTCAGGTTTCGATTCAGTTGAAAGCCCCTCTTTGGCTTAAGGCTTCGATAATCCATTTTCCGGAGGGAGTCCTGTACTGGGGAACAGGGCACTAAGCCAGATAATGATAAAGTGATGCCTTGATTCTTATTTTCCTATTGTTCCCTGTGTATAGCTTATCAAAAACCCTGTGGAGGGTAGAGGCAAGTGGCAGCCATGACTTAGATATACCTGGGACCCTTTACTTTCATAGAAAAAAAATACCTCTAATTCTAAAGTATATACAGCCAGGAAAGTGTATTATAAACAGAATATATCATTGACAATGAATGCTGAACGAGAATGATACATAGTTACATTACACATATTTATAAAAAATTTAAAGGTCAGAAAAGAATAAATATTAACATTTTTGAAATATTGATACATTACCTGGAAAAAATCTGGGTTGGGTATTCTTAAATTTTTTTCCAACTAATATCCTACTTTGTTCTCCCTAACAGAAAAGATTCTTCAAGGGAATACTAAGACAGGGGTTCTTTCAGAGTAAGTTGGTGATATCTTGACATTGCAGAGAATGGGTTCTGCCTCCTTTACCAAAAAAAAGCCTAAGAACTCAACAATGAGTGGTGTCAGCTAAAGATAACCAGTGTTTGGAAATTCTTCAGTGTTAGGCTATGTTCTGACATTTCTCATTAATATCTCACACCCCCATTAACTCGCCTAAGGTCTCAGCAGTACCAAAATCTATAGTACCATCCACTGGTAAGCAAGTGATCAGCCAGGGCAGGCTTGAGGATGAACCGGTTGGGACTGGCTGGGGACTCCAGATTTAAACTGCTTCAGCTCAAGATTACTTTAAGGTATAGCTAACATAAATATGAAAGAAAGCAAGAAAAAATATTAGTGGCTATTTTACTGTGGATAGTGGAATCACTACTTTTCTAGAGATTCTTTCACTTCAACTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACTGAGACTAGTGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCCCACCACTGTGGCTGGCTAATTATTGTATTTTAGCAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGTTCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGACCATCTTTCACTTCAACTTCTAAGATTTATGTCTCTTGGCTTCTGCAGTTTCTTAACTGGTGGAAACTGGAGGGAAAATATTAGTACTAAACATGAGACTAAAGTAGACAGTAGACAGACTTTTTATTATTAAGTTTCTACTGGACTTGGCAAAAACATTACAAACTTTTTGAGTTATAGCAAAATTGGTAATCCTTTGAAAATTGGAATGCATTTCAGAATAGAGTGCCCTTCAATGATAAGATGAGCAAGATAGGAAGGCAGTTAAAAGAAGTAATAGAAACATAAAATTGGGAAAAGTAGGTGGCATAATTTCATTTTCAAGTTCAATTACCTGCGTCAATATTTGGAAACAGGACTAGGGTCCACTTGTTAAATGAGATAAGTGCATCCAATGTTAATTCAAACATTTTTATGGAATGCTTAATGTCAGTGGTCACAGGGTGCTGTAGTGCAACAATGTAATCTTTAGATTTTACATCATCACCTGTTTAAAGAAAATCAAACCACATTGCTTCATTAGTTAAGAATCTTAAAAGAGAAAGAAGCAAATTCTGAAAGCAAGACTCTAAGTCTGTGCTTTTAAAAATTCTACGATAGAAACAGTTTGTCAAATTGTGAACAGGGCATCCAAATTAGAGTCAAATGATAAGAATTTACAGCAACAAATCCAAGTATTCAGCAAACTTAACATTTTACAAAGACATGCTGCCACAAACATAACTTTAAATAGCAGGCACTAGAAATTCACTGTTTTAAAACCCAAACTATTCCAAAGCACTCAAAAAATGTGACTCTTCCCAATTTCTAACTAATGTTTTTAGTGAATATTCAGCAATATCAATGAATAATAATATGTTGCATATCAGGGCATTTTGAGGCTGAACAAGCATTAAACATATTTCCTAGAATGCACAGGAGCTTTCCTGTACTATCACCTACCAGATTCAACAAGTGGCAAGTGTTTCTAACTCTGTTAAAGGACTAGGAGAGTTTCGCTCATCCCTAGGCTGGGATCCCAAGGACGGTTCCTCAGCAAAAATTTAAAAGGTAAAAAGTTTAGATTGACAGTGCTATGTCAAACAACGCAAGGTATTTACCAATAGGGCCTATATTATCCCATAAAACTGAAAGTGAGCTCCACTTACTTTTTTTTTTAATTAAGTTTATTTATTTTTCCATAAGTTATTGGGGTATTAGGTGGTATTTGGTTACATGAGTTAGTTCTTTGGTGGTGATTTGTGAGATTTTGGTGCACCCATCACCTGAGCAGTATACTCTGTACCATATTTGTAGTCTTCTATCCCTCGCCCCCTCCTACTCTTCCCCCCAAGTCCCCAAAGTCCACTGTATCATTCTTAGGCCTTTGCATCCTCATAGCTTAGCTTCCACATATCAGTGAGAGCATACAATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTGTCCAGTCTCATCTAGGTCACTGCAAATGCTGTTAATTCATTCCTTTTTATGGCTGCATAGTATTCCATCATAGATACAGATATAGATGTAGATATATAGATGTAGATATATATAGATACACACACACACATAGATATATAGATGTAGATATAAATAGATATATATAGATACACACACACACACACACACACATATATATACACACCACCGTTTCTTTATCCAATCATTGATTAATGGGCATTTGGTTGGTTCCATGACTTTGCAATTGTGAATTGTGCTGCTATAAACATGCGTGTGCAAGTATCTTTTTCAAATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGAATTGCTGGATCAAATGGTAGTTTTCCATAGCGGCTGTACTAGTTTACATTCACACCAGCAGTGTAGAAGTGTTCCTGATCACCACATCCACGCCAGCATCTACTGTTTTTTGATTTTTTGATTATGGCCATTCTTACAGGAGTAAGGCGGCATCGCATTATGGTTTTGATTTGCATTTCCCTGATCATTAGTGATGTTCAGCATTTTTTCATATGTTTGTTGGCCATTTGTATATTTTCTTTTGAGAATTGTCTATTCATGTCCTTAGCCCACTTTTTTATGGGACTTTTTCTTACTGATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGTCTTTTGTCAGATGTATAGATTGTGAAGATTTTCTCCCACTCTGTGGTTGTCTGTTTACTCTGCTATTCCTTTTGCTGTGCAAAAGCTCTTTAGTTTAATTAGGTCCAGGCTATTTATCTTTGTTTTATCGTATTTGCTTTTGGGTTCTTGGTCATGAAATCCTTGCCTAAGCCAATGTCTAGAAGGGGTTTTCCCATGTAATCTTCTAGAATTTTTATAGTTTCAGATCTTAAAGTCCTTAATCCATCTTGAGTTGATTTTTGTATAAGG
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Task1_train_12877
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A mutation found in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Sialuria
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TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACACCAGAAGGCACCACTACTATTCCAAGATTCAGGTTTCGATTCAGTTGAAAGCCCCTCTTTGGCTTAAGGCTTCGATAATCCATTTTCCGGAGGGAGTCCTGTACTGGGGAACAGGGCACTAAGCCAGATAATGATAAAGTGATGCCTTGATTCTTATTTTCCTATTGTTCCCTGTGTATAGCTTATCAAAAACCCTGTGGAGGGTAGAGGCAAGTGGCAGCCATGACTTAGATATACCTGGGACCCTTTACTTTCATAGAAAAAAAATACCTCTAATTCTAAAGTATATACAGCCAGGAAAGTGTATTATAAACAGAATATATCATTGACAATGAATGCTGAACGAGAATGATACATAGTTACATTACACATATTTATAAAAAATTTAAAGGTCAGAAAAGAATAAATATTAACATTTTTGAAATATTGATACATTACCTGGAAAAAATCTGGGTTGGGTATTCTTAAATTTTTTTCCAACTAATATCCTACTTTGTTCTCCCTAACAGAAAAGATTCTTCAAGGGAATACTAAGACAGGGGTTCTTTCAGAGTAAGTTGGTGATATCTTGACATTGCAGAGAATGGGTTCTGCCTCCTTTACCAAAAAAAAGCCTAAGAACTCAACAATGAGTGGTGTCAGCTAAAGATAACCAGTGTTTGGAAATTCTTCAGTGTTAGGCTATGTTCTGACATTTCTCATTAATATCTCACACCCCCATTAACTCGCCTAAGGTCTCAGCAGTACCAAAATCTATAGTACCATCCACTGGTAAGCAAGTGATCAGCCAGGGCAGGCTTGAGGATGAACCGGTTGGGACTGGCTGGGGACTCCAGATTTAAACTGCTTCAGCTCAAGATTACTTTAAGGTATAGCTAACATAAATATGAAAGAAAGCAAGAAAAAATATTAGTGGCTATTTTACTGTGGATAGTGGAATCACTACTTTTCTAGAGATTCTTTCACTTCAACTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACTGAGACTAGTGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCCCACCACTGTGGCTGGCTAATTATTGTATTTTAGCAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGTTCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGACCATCTTTCACTTCAACTTCTAAGATTTATGTCTCTTGGCTTCTGCAGTTTCTTAACTGGTGGAAACTGGAGGGAAAATATTAGTACTAAACATGAGACTAAAGTAGACAGTAGACAGACTTTTTATTATTAAGTTTCTACTGGACTTGGCAAAAACATTACAAACTTTTTGAGTTATAGCAAAATTGGTAATCCTTTGAAAATTGGAATGCATTTCAGAATAGAGTGCCCTTCAATGATAAGATGAGCAAGATAGGAAGGCAGTTAAAAGAAGTAATAGAAACATAAAATTGGGAAAAGTAGGTGGCATAATTTCATTTTCAAGTTCAATTACCTGCGTCAATATTTGGAAACAGGACTAGGGTCCGCTTGTTAAATGAGATAAGTGCATCCAATGTTAATTCAAACATTTTTATGGAATGCTTAATGTCAGTGGTCACAGGGTGCTGTAGTGCAACAATGTAATCTTTAGATTTTACATCATCACCTGTTTAAAGAAAATCAAACCACATTGCTTCATTAGTTAAGAATCTTAAAAGAGAAAGAAGCAAATTCTGAAAGCAAGACTCTAAGTCTGTGCTTTTAAAAATTCTACGATAGAAACAGTTTGTCAAATTGTGAACAGGGCATCCAAATTAGAGTCAAATGATAAGAATTTACAGCAACAAATCCAAGTATTCAGCAAACTTAACATTTTACAAAGACATGCTGCCACAAACATAACTTTAAATAGCAGGCACTAGAAATTCACTGTTTTAAAACCCAAACTATTCCAAAGCACTCAAAAAATGTGACTCTTCCCAATTTCTAACTAATGTTTTTAGTGAATATTCAGCAATATCAATGAATAATAATATGTTGCATATCAGGGCATTTTGAGGCTGAACAAGCATTAAACATATTTCCTAGAATGCACAGGAGCTTTCCTGTACTATCACCTACCAGATTCAACAAGTGGCAAGTGTTTCTAACTCTGTTAAAGGACTAGGAGAGTTTCGCTCATCCCTAGGCTGGGATCCCAAGGACGGTTCCTCAGCAAAAATTTAAAAGGTAAAAAGTTTAGATTGACAGTGCTATGTCAAACAACGCAAGGTATTTACCAATAGGGCCTATATTATCCCATAAAACTGAAAGTGAGCTCCACTTACTTTTTTTTTTAATTAAGTTTATTTATTTTTCCATAAGTTATTGGGGTATTAGGTGGTATTTGGTTACATGAGTTAGTTCTTTGGTGGTGATTTGTGAGATTTTGGTGCACCCATCACCTGAGCAGTATACTCTGTACCATATTTGTAGTCTTCTATCCCTCGCCCCCTCCTACTCTTCCCCCCAAGTCCCCAAAGTCCACTGTATCATTCTTAGGCCTTTGCATCCTCATAGCTTAGCTTCCACATATCAGTGAGAGCATACAATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTGTCCAGTCTCATCTAGGTCACTGCAAATGCTGTTAATTCATTCCTTTTTATGGCTGCATAGTATTCCATCATAGATACAGATATAGATGTAGATATATAGATGTAGATATATATAGATACACACACACACATAGATATATAGATGTAGATATAAATAGATATATATAGATACACACACACACACACACACACATATATATACACACCACCGTTTCTTTATCCAATCATTGATTAATGGGCATTTGGTTGGTTCCATGACTTTGCAATTGTGAATTGTGCTGCTATAAACATGCGTGTGCAAGTATCTTTTTCAAATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGAATTGCTGGATCAAATGGTAGTTTTCCATAGCGGCTGTACTAGTTTACATTCACACCAGCAGTGTAGAAGTGTTCCTGATCACCACATCCACGCCAGCATCTACTGTTTTTTGATTTTTTGATTATGGCCATTCTTACAGGAGTAAGGCGGCATCGCATTATGGTTTTGATTTGCATTTCCCTGATCATTAGTGATGTTCAGCATTTTTTCATATGTTTGTTGGCCATTTGTATATTTTCTTTTGAGAATTGTCTATTCATGTCCTTAGCCCACTTTTTTATGGGACTTTTTCTTACTGATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGTCTTTTGTCAGATGTATAGATTGTGAAGATTTTCTCCCACTCTGTGGTTGTCTGTTTACTCTGCTATTCCTTTTGCTGTGCAAAAGCTCTTTAGTTTAATTAGGTCCAGGCTATTTATCTTTGTTTTATCGTATTTGCTTTTGGGTTCTTGGTCATGAAATCCTTGCCTAAGCCAATGTCTAGAAGGGGTTTTCCCATGTAATCTTCTAGAATTTTTATAGTTTCAGATCTTAAAGTCCTTAATCCATCTTGAGTTGATTTTTGTATAAGG
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TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACACCAGAAGGCACCACTACTATTCCAAGATTCAGGTTTCGATTCAGTTGAAAGCCCCTCTTTGGCTTAAGGCTTCGATAATCCATTTTCCGGAGGGAGTCCTGTACTGGGGAACAGGGCACTAAGCCAGATAATGATAAAGTGATGCCTTGATTCTTATTTTCCTATTGTTCCCTGTGTATAGCTTATCAAAAACCCTGTGGAGGGTAGAGGCAAGTGGCAGCCATGACTTAGATATACCTGGGACCCTTTACTTTCATAGAAAAAAAATACCTCTAATTCTAAAGTATATACAGCCAGGAAAGTGTATTATAAACAGAATATATCATTGACAATGAATGCTGAACGAGAATGATACATAGTTACATTACACATATTTATAAAAAATTTAAAGGTCAGAAAAGAATAAATATTAACATTTTTGAAATATTGATACATTACCTGGAAAAAATCTGGGTTGGGTATTCTTAAATTTTTTTCCAACTAATATCCTACTTTGTTCTCCCTAACAGAAAAGATTCTTCAAGGGAATACTAAGACAGGGGTTCTTTCAGAGTAAGTTGGTGATATCTTGACATTGCAGAGAATGGGTTCTGCCTCCTTTACCAAAAAAAAGCCTAAGAACTCAACAATGAGTGGTGTCAGCTAAAGATAACCAGTGTTTGGAAATTCTTCAGTGTTAGGCTATGTTCTGACATTTCTCATTAATATCTCACACCCCCATTAACTCGCCTAAGGTCTCAGCAGTACCAAAATCTATAGTACCATCCACTGGTAAGCAAGTGATCAGCCAGGGCAGGCTTGAGGATGAACCGGTTGGGACTGGCTGGGGACTCCAGATTTAAACTGCTTCAGCTCAAGATTACTTTAAGGTATAGCTAACATAAATATGAAAGAAAGCAAGAAAAAATATTAGTGGCTATTTTACTGTGGATAGTGGAATCACTACTTTTCTAGAGATTCTTTCACTTCAACTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACTGAGACTAGTGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCCCACCACTGTGGCTGGCTAATTATTGTATTTTAGCAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGTTCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGACCATCTTTCACTTCAACTTCTAAGATTTATGTCTCTTGGCTTCTGCAGTTTCTTAACTGGTGGAAACTGGAGGGAAAATATTAGTACTAAACATGAGACTAAAGTAGACAGTAGACAGACTTTTTATTATTAAGTTTCTACTGGACTTGGCAAAAACATTACAAACTTTTTGAGTTATAGCAAAATTGGTAATCCTTTGAAAATTGGAATGCATTTCAGAATAGAGTGCCCTTCAATGATAAGATGAGCAAGATAGGAAGGCAGTTAAAAGAAGTAATAGAAACATAAAATTGGGAAAAGTAGGTGGCATAATTTCATTTTCAAGTTCAATTACCTGCGTCAATATTTGGAAACAGGACTAGGGTCCACTTGTTAAATGAGATAAGTGCATCCAATGTTAATTCAAACATTTTTATGGAATGCTTAATGTCAGTGGTCACAGGGTGCTGTAGTGCAACAATGTAATCTTTAGATTTTACATCATCACCTGTTTAAAGAAAATCAAACCACATTGCTTCATTAGTTAAGAATCTTAAAAGAGAAAGAAGCAAATTCTGAAAGCAAGACTCTAAGTCTGTGCTTTTAAAAATTCTACGATAGAAACAGTTTGTCAAATTGTGAACAGGGCATCCAAATTAGAGTCAAATGATAAGAATTTACAGCAACAAATCCAAGTATTCAGCAAACTTAACATTTTACAAAGACATGCTGCCACAAACATAACTTTAAATAGCAGGCACTAGAAATTCACTGTTTTAAAACCCAAACTATTCCAAAGCACTCAAAAAATGTGACTCTTCCCAATTTCTAACTAATGTTTTTAGTGAATATTCAGCAATATCAATGAATAATAATATGTTGCATATCAGGGCATTTTGAGGCTGAACAAGCATTAAACATATTTCCTAGAATGCACAGGAGCTTTCCTGTACTATCACCTACCAGATTCAACAAGTGGCAAGTGTTTCTAACTCTGTTAAAGGACTAGGAGAGTTTCGCTCATCCCTAGGCTGGGATCCCAAGGACGGTTCCTCAGCAAAAATTTAAAAGGTAAAAAGTTTAGATTGACAGTGCTATGTCAAACAACGCAAGGTATTTACCAATAGGGCCTATATTATCCCATAAAACTGAAAGTGAGCTCCACTTACTTTTTTTTTTAATTAAGTTTATTTATTTTTCCATAAGTTATTGGGGTATTAGGTGGTATTTGGTTACATGAGTTAGTTCTTTGGTGGTGATTTGTGAGATTTTGGTGCACCCATCACCTGAGCAGTATACTCTGTACCATATTTGTAGTCTTCTATCCCTCGCCCCCTCCTACTCTTCCCCCCAAGTCCCCAAAGTCCACTGTATCATTCTTAGGCCTTTGCATCCTCATAGCTTAGCTTCCACATATCAGTGAGAGCATACAATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTGTCCAGTCTCATCTAGGTCACTGCAAATGCTGTTAATTCATTCCTTTTTATGGCTGCATAGTATTCCATCATAGATACAGATATAGATGTAGATATATAGATGTAGATATATATAGATACACACACACACATAGATATATAGATGTAGATATAAATAGATATATATAGATACACACACACACACACACACACATATATATACACACCACCGTTTCTTTATCCAATCATTGATTAATGGGCATTTGGTTGGTTCCATGACTTTGCAATTGTGAATTGTGCTGCTATAAACATGCGTGTGCAAGTATCTTTTTCAAATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGAATTGCTGGATCAAATGGTAGTTTTCCATAGCGGCTGTACTAGTTTACATTCACACCAGCAGTGTAGAAGTGTTCCTGATCACCACATCCACGCCAGCATCTACTGTTTTTTGATTTTTTGATTATGGCCATTCTTACAGGAGTAAGGCGGCATCGCATTATGGTTTTGATTTGCATTTCCCTGATCATTAGTGATGTTCAGCATTTTTTCATATGTTTGTTGGCCATTTGTATATTTTCTTTTGAGAATTGTCTATTCATGTCCTTAGCCCACTTTTTTATGGGACTTTTTCTTACTGATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGTCTTTTGTCAGATGTATAGATTGTGAAGATTTTCTCCCACTCTGTGGTTGTCTGTTTACTCTGCTATTCCTTTTGCTGTGCAAAAGCTCTTTAGTTTAATTAGGTCCAGGCTATTTATCTTTGTTTTATCGTATTTGCTTTTGGGTTCTTGGTCATGAAATCCTTGCCTAAGCCAATGTCTAGAAGGGGTTTTCCCATGTAATCTTCTAGAATTTTTATAGTTTCAGATCTTAAAGTCCTTAATCCATCTTGAGTTGATTTTTGTATAAGG
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Task1_train_12878
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Gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; GNE myopathy
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TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACACCAGAAGGCACCACTACTATTCCAAGATTCAGGTTTCGATTCAGTTGAAAGCCCCTCTTTGGCTTAAGGCTTCGATAATCCATTTTCCGGAGGGAGTCCTGTACTGGGGAACAGGGCACTAAGCCAGATAATGATAAAGTGATGCCTTGATTCTTATTTTCCTATTGTTCCCTGTGTATAGCTTATCAAAAACCCTGTGGAGGGTAGAGGCAAGTGGCAGCCATGACTTAGATATACCTGGGACCCTTTACTTTCATAGAAAAAAAATACCTCTAATTCTAAAGTATATACAGCCAGGAAAGTGTATTATAAACAGAATATATCATTGACAATGAATGCTGAACGAGAATGATACATAGTTACATTACACATATTTATAAAAAATTTAAAGGTCAGAAAAGAATAAATATTAACATTTTTGAAATATTGATACATTACCTGGAAAAAATCTGGGTTGGGTATTCTTAAATTTTTTTCCAACTAATATCCTACTTTGTTCTCCCTAACAGAAAAGATTCTTCAAGGGAATACTAAGACAGGGGTTCTTTCAGAGTAAGTTGGTGATATCTTGACATTGCAGAGAATGGGTTCTGCCTCCTTTACCAAAAAAAAGCCTAAGAACTCAACAATGAGTGGTGTCAGCTAAAGATAACCAGTGTTTGGAAATTCTTCAGTGTTAGGCTATGTTCTGACATTTCTCATTAATATCTCACACCCCCATTAACTCGCCTAAGGTCTCAGCAGTACCAAAATCTATAGTACCATCCACTGGTAAGCAAGTGATCAGCCAGGGCAGGCTTGAGGATGAACCGGTTGGGACTGGCTGGGGACTCCAGATTTAAACTGCTTCAGCTCAAGATTACTTTAAGGTATAGCTAACATAAATATGAAAGAAAGCAAGAAAAAATATTAGTGGCTATTTTACTGTGGATAGTGGAATCACTACTTTTCTAGAGATTCTTTCACTTCAACTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACTGAGACTAGTGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCCCACCACTGTGGCTGGCTAATTATTGTATTTTAGCAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGTTCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGACCATCTTTCACTTCAACTTCTAAGATTTATGTCTCTTGGCTTCTGCAGTTTCTTAACTGGTGGAAACTGGAGGGAAAATATTAGTACTAAACATGAGACTAAAGTAGACAGTAGACAGACTTTTTATTATTAAGTTTCTACTGGACTTGGCAAAAACATTACAAACTTTTTGAGTTATAGCAAAATTGGTAATCCTTTGAAAATTGGAATGCATTTCAGAATAGAGTGCCCTTCAATGATAAGATGAGCAAGATAGGAAGGCAGTTAAAAGAAGTAATAGAAACATAAAATTGGGAAAAGTAGGTGGCATAATTTCATTTTCAAGTTCAATTACCTGCGTCAATATTTGGAAACAGGACTAGGGTCCGCTTGTTAAATGAGATAAGTGCATCCAATGTTAATTCAAACATTTTTATGGAATGCTTAATGTCAGTGGTCACAGGGTGCTGTAGTGCAACAATGTAATCTTTAGATTTTACATCATCACCTGTTTAAAGAAAATCAAACCACATTGCTTCATTAGTTAAGAATCTTAAAAGAGAAAGAAGCAAATTCTGAAAGCAAGACTCTAAGTCTGTGCTTTTAAAAATTCTACGATAGAAACAGTTTGTCAAATTGTGAACAGGGCATCCAAATTAGAGTCAAATGATAAGAATTTACAGCAACAAATCCAAGTATTCAGCAAACTTAACATTTTACAAAGACATGCTGCCACAAACATAACTTTAAATAGCAGGCACTAGAAATTCACTGTTTTAAAACCCAAACTATTCCAAAGCACTCAAAAAATGTGACTCTTCCCAATTTCTAACTAATGTTTTTAGTGAATATTCAGCAATATCAATGAATAATAATATGTTGCATATCAGGGCATTTTGAGGCTGAACAAGCATTAAACATATTTCCTAGAATGCACAGGAGCTTTCCTGTACTATCACCTACCAGATTCAACAAGTGGCAAGTGTTTCTAACTCTGTTAAAGGACTAGGAGAGTTTCGCTCATCCCTAGGCTGGGATCCCAAGGACGGTTCCTCAGCAAAAATTTAAAAGGTAAAAAGTTTAGATTGACAGTGCTATGTCAAACAACGCAAGGTATTTACCAATAGGGCCTATATTATCCCATAAAACTGAAAGTGAGCTCCACTTACTTTTTTTTTTAATTAAGTTTATTTATTTTTCCATAAGTTATTGGGGTATTAGGTGGTATTTGGTTACATGAGTTAGTTCTTTGGTGGTGATTTGTGAGATTTTGGTGCACCCATCACCTGAGCAGTATACTCTGTACCATATTTGTAGTCTTCTATCCCTCGCCCCCTCCTACTCTTCCCCCCAAGTCCCCAAAGTCCACTGTATCATTCTTAGGCCTTTGCATCCTCATAGCTTAGCTTCCACATATCAGTGAGAGCATACAATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTGTCCAGTCTCATCTAGGTCACTGCAAATGCTGTTAATTCATTCCTTTTTATGGCTGCATAGTATTCCATCATAGATACAGATATAGATGTAGATATATAGATGTAGATATATATAGATACACACACACACATAGATATATAGATGTAGATATAAATAGATATATATAGATACACACACACACACACACACACATATATATACACACCACCGTTTCTTTATCCAATCATTGATTAATGGGCATTTGGTTGGTTCCATGACTTTGCAATTGTGAATTGTGCTGCTATAAACATGCGTGTGCAAGTATCTTTTTCAAATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGAATTGCTGGATCAAATGGTAGTTTTCCATAGCGGCTGTACTAGTTTACATTCACACCAGCAGTGTAGAAGTGTTCCTGATCACCACATCCACGCCAGCATCTACTGTTTTTTGATTTTTTGATTATGGCCATTCTTACAGGAGTAAGGCGGCATCGCATTATGGTTTTGATTTGCATTTCCCTGATCATTAGTGATGTTCAGCATTTTTTCATATGTTTGTTGGCCATTTGTATATTTTCTTTTGAGAATTGTCTATTCATGTCCTTAGCCCACTTTTTTATGGGACTTTTTCTTACTGATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGTCTTTTGTCAGATGTATAGATTGTGAAGATTTTCTCCCACTCTGTGGTTGTCTGTTTACTCTGCTATTCCTTTTGCTGTGCAAAAGCTCTTTAGTTTAATTAGGTCCAGGCTATTTATCTTTGTTTTATCGTATTTGCTTTTGGGTTCTTGGTCATGAAATCCTTGCCTAAGCCAATGTCTAGAAGGGGTTTTCCCATGTAATCTTCTAGAATTTTTATAGTTTCAGATCTTAAAGTCCTTAATCCATCTTGAGTTGATTTTTGTATAAGG
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TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACACCAGAAGGCACCACTACTATTCCAAGATTCAGGTTTCGATTCAGTTGAAAGCCCCTCTTTGGCTTAAGGCTTCGATAATCCATTTTCCGGAGGGAGTCCTGTACTGGGGAACAGGGCACTAAGCCAGATAATGATAAAGTGATGCCTTGATTCTTATTTTCCTATTGTTCCCTGTGTATAGCTTATCAAAAACCCTGTGGAGGGTAGAGGCAAGTGGCAGCCATGACTTAGATATACCTGGGACCCTTTACTTTCATAGAAAAAAAATACCTCTAATTCTAAAGTATATACAGCCAGGAAAGTGTATTATAAACAGAATATATCATTGACAATGAATGCTGAACGAGAATGATACATAGTTACATTACACATATTTATAAAAAATTTAAAGGTCAGAAAAGAATAAATATTAACATTTTTGAAATATTGATACATTACCTGGAAAAAATCTGGGTTGGGTATTCTTAAATTTTTTTCCAACTAATATCCTACTTTGTTCTCCCTAACAGAAAAGATTCTTCAAGGGAATACTAAGACAGGGGTTCTTTCAGAGTAAGTTGGTGATATCTTGACATTGCAGAGAATGGGTTCTGCCTCCTTTACCAAAAAAAAGCCTAAGAACTCAACAATGAGTGGTGTCAGCTAAAGATAACCAGTGTTTGGAAATTCTTCAGTGTTAGGCTATGTTCTGACATTTCTCATTAATATCTCACACCCCCATTAACTCGCCTAAGGTCTCAGCAGTACCAAAATCTATAGTACCATCCACTGGTAAGCAAGTGATCAGCCAGGGCAGGCTTGAGGATGAACCGGTTGGGACTGGCTGGGGACTCCAGATTTAAACTGCTTCAGCTCAAGATTACTTTAAGGTATAGCTAACATAAATATGAAAGAAAGCAAGAAAAAATATTAGTGGCTATTTTACTGTGGATAGTGGAATCACTACTTTTCTAGAGATTCTTTCACTTCAACTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACTGAGACTAGTGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCCCACCACTGTGGCTGGCTAATTATTGTATTTTAGCAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGTTCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGACCATCTTTCACTTCAACTTCTAAGATTTATGTCTCTTGGCTTCTGCAGTTTCTTAACTGGTGGAAACTGGAGGGAAAATATTAGTACTAAACATGAGACTAAAGTAGACAGTAGACAGACTTTTTATTATTAAGTTTCTACTGGACTTGGCAAAAACATTACAAACTTTTTGAGTTATAGCAAAATTGGTAATCCTTTGAAAATTGGAATGCATTTCAGAATAGAGTGCCCTTCAATGATAAGATGAGCAAGATAGGAAGGCAGTTAAAAGAAGTAATAGAAACATAAAATTGGGAAAAGTAGGTGGCATAATTTCATTTTCAAGTTCAATTACCTGCGTCAATATTTGGAAACAGGACTAGGGTCCACTTGTTAAATGAGATAAGTGCATCCAATGTTAATTCAAACATTTTTATGGAATGCTTAATGTCAGTGGTCACAGGGTGCTGTAGTGCAACAATGTAATCTTTAGATTTTACATCATCACCTGTTTAAAGAAAATCAAACCACATTGCTTCATTAGTTAAGAATCTTAAAAGAGAAAGAAGCAAATTCTGAAAGCAAGACTCTAAGTCTGTGCTTTTAAAAATTCTACGATAGAAACAGTTTGTCAAATTGTGAACAGGGCATCCAAATTAGAGTCAAATGATAAGAATTTACAGCAACAAATCCAAGTATTCAGCAAACTTAACATTTTACAAAGACATGCTGCCACAAACATAACTTTAAATAGCAGGCACTAGAAATTCACTGTTTTAAAACCCAAACTATTCCAAAGCACTCAAAAAATGTGACTCTTCCCAATTTCTAACTAATGTTTTTAGTGAATATTCAGCAATATCAATGAATAATAATATGTTGCATATCAGGGCATTTTGAGGCTGAACAAGCATTAAACATATTTCCTAGAATGCACAGGAGCTTTCCTGTACTATCACCTACCAGATTCAACAAGTGGCAAGTGTTTCTAACTCTGTTAAAGGACTAGGAGAGTTTCGCTCATCCCTAGGCTGGGATCCCAAGGACGGTTCCTCAGCAAAAATTTAAAAGGTAAAAAGTTTAGATTGACAGTGCTATGTCAAACAACGCAAGGTATTTACCAATAGGGCCTATATTATCCCATAAAACTGAAAGTGAGCTCCACTTACTTTTTTTTTTAATTAAGTTTATTTATTTTTCCATAAGTTATTGGGGTATTAGGTGGTATTTGGTTACATGAGTTAGTTCTTTGGTGGTGATTTGTGAGATTTTGGTGCACCCATCACCTGAGCAGTATACTCTGTACCATATTTGTAGTCTTCTATCCCTCGCCCCCTCCTACTCTTCCCCCCAAGTCCCCAAAGTCCACTGTATCATTCTTAGGCCTTTGCATCCTCATAGCTTAGCTTCCACATATCAGTGAGAGCATACAATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTGTCCAGTCTCATCTAGGTCACTGCAAATGCTGTTAATTCATTCCTTTTTATGGCTGCATAGTATTCCATCATAGATACAGATATAGATGTAGATATATAGATGTAGATATATATAGATACACACACACACATAGATATATAGATGTAGATATAAATAGATATATATAGATACACACACACACACACACACACATATATATACACACCACCGTTTCTTTATCCAATCATTGATTAATGGGCATTTGGTTGGTTCCATGACTTTGCAATTGTGAATTGTGCTGCTATAAACATGCGTGTGCAAGTATCTTTTTCAAATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGAATTGCTGGATCAAATGGTAGTTTTCCATAGCGGCTGTACTAGTTTACATTCACACCAGCAGTGTAGAAGTGTTCCTGATCACCACATCCACGCCAGCATCTACTGTTTTTTGATTTTTTGATTATGGCCATTCTTACAGGAGTAAGGCGGCATCGCATTATGGTTTTGATTTGCATTTCCCTGATCATTAGTGATGTTCAGCATTTTTTCATATGTTTGTTGGCCATTTGTATATTTTCTTTTGAGAATTGTCTATTCATGTCCTTAGCCCACTTTTTTATGGGACTTTTTCTTACTGATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGTCTTTTGTCAGATGTATAGATTGTGAAGATTTTCTCCCACTCTGTGGTTGTCTGTTTACTCTGCTATTCCTTTTGCTGTGCAAAAGCTCTTTAGTTTAATTAGGTCCAGGCTATTTATCTTTGTTTTATCGTATTTGCTTTTGGGTTCTTGGTCATGAAATCCTTGCCTAAGCCAATGTCTAGAAGGGGTTTTCCCATGTAATCTTCTAGAATTTTTATAGTTTCAGATCTTAAAGTCCTTAATCCATCTTGAGTTGATTTTTGTATAAGG
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Task1_train_12879
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This variant affects the gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Sialuria
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TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACACCAGAAGGCACCACTACTATTCCAAGATTCAGGTTTCGATTCAGTTGAAAGCCCCTCTTTGGCTTAAGGCTTCGATAATCCATTTTCCGGAGGGAGTCCTGTACTGGGGAACAGGGCACTAAGCCAGATAATGATAAAGTGATGCCTTGATTCTTATTTTCCTATTGTTCCCTGTGTATAGCTTATCAAAAACCCTGTGGAGGGTAGAGGCAAGTGGCAGCCATGACTTAGATATACCTGGGACCCTTTACTTTCATAGAAAAAAAATACCTCTAATTCTAAAGTATATACAGCCAGGAAAGTGTATTATAAACAGAATATATCATTGACAATGAATGCTGAACGAGAATGATACATAGTTACATTACACATATTTATAAAAAATTTAAAGGTCAGAAAAGAATAAATATTAACATTTTTGAAATATTGATACATTACCTGGAAAAAATCTGGGTTGGGTATTCTTAAATTTTTTTCCAACTAATATCCTACTTTGTTCTCCCTAACAGAAAAGATTCTTCAAGGGAATACTAAGACAGGGGTTCTTTCAGAGTAAGTTGGTGATATCTTGACATTGCAGAGAATGGGTTCTGCCTCCTTTACCAAAAAAAAGCCTAAGAACTCAACAATGAGTGGTGTCAGCTAAAGATAACCAGTGTTTGGAAATTCTTCAGTGTTAGGCTATGTTCTGACATTTCTCATTAATATCTCACACCCCCATTAACTCGCCTAAGGTCTCAGCAGTACCAAAATCTATAGTACCATCCACTGGTAAGCAAGTGATCAGCCAGGGCAGGCTTGAGGATGAACCGGTTGGGACTGGCTGGGGACTCCAGATTTAAACTGCTTCAGCTCAAGATTACTTTAAGGTATAGCTAACATAAATATGAAAGAAAGCAAGAAAAAATATTAGTGGCTATTTTACTGTGGATAGTGGAATCACTACTTTTCTAGAGATTCTTTCACTTCAACTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACTGAGACTAGTGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCCCACCACTGTGGCTGGCTAATTATTGTATTTTAGCAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGTTCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGACCATCTTTCACTTCAACTTCTAAGATTTATGTCTCTTGGCTTCTGCAGTTTCTTAACTGGTGGAAACTGGAGGGAAAATATTAGTACTAAACATGAGACTAAAGTAGACAGTAGACAGACTTTTTATTATTAAGTTTCTACTGGACTTGGCAAAAACATTACAAACTTTTTGAGTTATAGCAAAATTGGTAATCCTTTGAAAATTGGAATGCATTTCAGAATAGAGTGCCCTTCAATGATAAGATGAGCAAGATAGGAAGGCAGTTAAAAGAAGTAATAGAAACATAAAATTGGGAAAAGTAGGTGGCATAATTTCATTTTCAAGTTCAATTACCTGCGTCAATATTTGGAAACAGGACTAGGGTCCGCTTGTTAAATGAGATAAGTGCATCCAATGTTAATTCAAACATTTTTATGGAATGCTTAATGTCAGTGGTCACAGGGTGCTGTAGTGCAACAATGTAATCTTTAGATTTTACATCATCACCTGTTTAAAGAAAATCAAACCACATTGCTTCATTAGTTAAGAATCTTAAAAGAGAAAGAAGCAAATTCTGAAAGCAAGACTCTAAGTCTGTGCTTTTAAAAATTCTACGATAGAAACAGTTTGTCAAATTGTGAACAGGGCATCCAAATTAGAGTCAAATGATAAGAATTTACAGCAACAAATCCAAGTATTCAGCAAACTTAACATTTTACAAAGACATGCTGCCACAAACATAACTTTAAATAGCAGGCACTAGAAATTCACTGTTTTAAAACCCAAACTATTCCAAAGCACTCAAAAAATGTGACTCTTCCCAATTTCTAACTAATGTTTTTAGTGAATATTCAGCAATATCAATGAATAATAATATGTTGCATATCAGGGCATTTTGAGGCTGAACAAGCATTAAACATATTTCCTAGAATGCACAGGAGCTTTCCTGTACTATCACCTACCAGATTCAACAAGTGGCAAGTGTTTCTAACTCTGTTAAAGGACTAGGAGAGTTTCGCTCATCCCTAGGCTGGGATCCCAAGGACGGTTCCTCAGCAAAAATTTAAAAGGTAAAAAGTTTAGATTGACAGTGCTATGTCAAACAACGCAAGGTATTTACCAATAGGGCCTATATTATCCCATAAAACTGAAAGTGAGCTCCACTTACTTTTTTTTTTAATTAAGTTTATTTATTTTTCCATAAGTTATTGGGGTATTAGGTGGTATTTGGTTACATGAGTTAGTTCTTTGGTGGTGATTTGTGAGATTTTGGTGCACCCATCACCTGAGCAGTATACTCTGTACCATATTTGTAGTCTTCTATCCCTCGCCCCCTCCTACTCTTCCCCCCAAGTCCCCAAAGTCCACTGTATCATTCTTAGGCCTTTGCATCCTCATAGCTTAGCTTCCACATATCAGTGAGAGCATACAATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTGTCCAGTCTCATCTAGGTCACTGCAAATGCTGTTAATTCATTCCTTTTTATGGCTGCATAGTATTCCATCATAGATACAGATATAGATGTAGATATATAGATGTAGATATATATAGATACACACACACACATAGATATATAGATGTAGATATAAATAGATATATATAGATACACACACACACACACACACACATATATATACACACCACCGTTTCTTTATCCAATCATTGATTAATGGGCATTTGGTTGGTTCCATGACTTTGCAATTGTGAATTGTGCTGCTATAAACATGCGTGTGCAAGTATCTTTTTCAAATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGAATTGCTGGATCAAATGGTAGTTTTCCATAGCGGCTGTACTAGTTTACATTCACACCAGCAGTGTAGAAGTGTTCCTGATCACCACATCCACGCCAGCATCTACTGTTTTTTGATTTTTTGATTATGGCCATTCTTACAGGAGTAAGGCGGCATCGCATTATGGTTTTGATTTGCATTTCCCTGATCATTAGTGATGTTCAGCATTTTTTCATATGTTTGTTGGCCATTTGTATATTTTCTTTTGAGAATTGTCTATTCATGTCCTTAGCCCACTTTTTTATGGGACTTTTTCTTACTGATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGTCTTTTGTCAGATGTATAGATTGTGAAGATTTTCTCCCACTCTGTGGTTGTCTGTTTACTCTGCTATTCCTTTTGCTGTGCAAAAGCTCTTTAGTTTAATTAGGTCCAGGCTATTTATCTTTGTTTTATCGTATTTGCTTTTGGGTTCTTGGTCATGAAATCCTTGCCTAAGCCAATGTCTAGAAGGGGTTTTCCCATGTAATCTTCTAGAATTTTTATAGTTTCAGATCTTAAAGTCCTTAATCCATCTTGAGTTGATTTTTGTATAAGG
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TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACACCAGAAGGCACCACTACTATTCCAAGATTCAGGTTTCGATTCAGTTGAAAGCCCCTCTTTGGCTTAAGGCTTCGATAATCCATTTTCCGGAGGGAGTCCTGTACTGGGGAACAGGGCACTAAGCCAGATAATGATAAAGTGATGCCTTGATTCTTATTTTCCTATTGTTCCCTGTGTATAGCTTATCAAAAACCCTGTGGAGGGTAGAGGCAAGTGGCAGCCATGACTTAGATATACCTGGGACCCTTTACTTTCATAGAAAAAAAATACCTCTAATTCTAAAGTATATACAGCCAGGAAAGTGTATTATAAACAGAATATATCATTGACAATGAATGCTGAACGAGAATGATACATAGTTACATTACACATATTTATAAAAAATTTAAAGGTCAGAAAAGAATAAATATTAACATTTTTGAAATATTGATACATTACCTGGAAAAAATCTGGGTTGGGTATTCTTAAATTTTTTTCCAACTAATATCCTACTTTGTTCTCCCTAACAGAAAAGATTCTTCAAGGGAATACTAAGACAGGGGTTCTTTCAGAGTAAGTTGGTGATATCTTGACATTGCAGAGAATGGGTTCTGCCTCCTTTACCAAAAAAAAGCCTAAGAACTCAACAATGAGTGGTGTCAGCTAAAGATAACCAGTGTTTGGAAATTCTTCAGTGTTAGGCTATGTTCTGACATTTCTCATTAATATCTCACACCCCCATTAACTCGCCTAAGGTCTCAGCAGTACCAAAATCTATAGTACCATCCACTGGTAAGCAAGTGATCAGCCAGGGCAGGCTTGAGGATGAACCGGTTGGGACTGGCTGGGGACTCCAGATTTAAACTGCTTCAGCTCAAGATTACTTTAAGGTATAGCTAACATAAATATGAAAGAAAGCAAGAAAAAATATTAGTGGCTATTTTACTGTGGATAGTGGAATCACTACTTTTCTAGAGATTCTTTCACTTCAACTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACTGAGACTAGTGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCCCACCACTGTGGCTGGCTAATTATTGTATTTTAGCAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGTTCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGACCATCTTTCACTTCAACTTCTAAGATTTATGTCTCTTGGCTTCTGCAGTTTCTTAACTGGTGGAAACTGGAGGGAAAATATTAGTACTAAACATGAGACTAAAGTAGACAGTAGACAGACTTTTTATTATTAAGTTTCTACTGGACTTGGCAAAAACATTACAAACTTTTTGAGTTATAGCAAAATTGGTAATCCTTTGAAAATTGGAATGCATTTCAGAATAGAGTGCCCTTCAATGATAAGATGAGCAAGATAGGAAGGCAGTTAAAAGAAGTAATAGAAACATAAAATTGGGAAAAGTAGGTGGCATAATTTCATTTTCAAGTTCAATTACCTGCGTCAATATTTGGAAACAGGACTAGGGTCCACTTGTTAAATGAGATAAGTGCATCCAATGTTAATTCAAACATTTTTATGGAATGCTTAATGTCAGTGGTCACAGGGTGCTGTAGTGCAACAATGTAATCTTTAGATTTTACATCATCACCTGTTTAAAGAAAATCAAACCACATTGCTTCATTAGTTAAGAATCTTAAAAGAGAAAGAAGCAAATTCTGAAAGCAAGACTCTAAGTCTGTGCTTTTAAAAATTCTACGATAGAAACAGTTTGTCAAATTGTGAACAGGGCATCCAAATTAGAGTCAAATGATAAGAATTTACAGCAACAAATCCAAGTATTCAGCAAACTTAACATTTTACAAAGACATGCTGCCACAAACATAACTTTAAATAGCAGGCACTAGAAATTCACTGTTTTAAAACCCAAACTATTCCAAAGCACTCAAAAAATGTGACTCTTCCCAATTTCTAACTAATGTTTTTAGTGAATATTCAGCAATATCAATGAATAATAATATGTTGCATATCAGGGCATTTTGAGGCTGAACAAGCATTAAACATATTTCCTAGAATGCACAGGAGCTTTCCTGTACTATCACCTACCAGATTCAACAAGTGGCAAGTGTTTCTAACTCTGTTAAAGGACTAGGAGAGTTTCGCTCATCCCTAGGCTGGGATCCCAAGGACGGTTCCTCAGCAAAAATTTAAAAGGTAAAAAGTTTAGATTGACAGTGCTATGTCAAACAACGCAAGGTATTTACCAATAGGGCCTATATTATCCCATAAAACTGAAAGTGAGCTCCACTTACTTTTTTTTTTAATTAAGTTTATTTATTTTTCCATAAGTTATTGGGGTATTAGGTGGTATTTGGTTACATGAGTTAGTTCTTTGGTGGTGATTTGTGAGATTTTGGTGCACCCATCACCTGAGCAGTATACTCTGTACCATATTTGTAGTCTTCTATCCCTCGCCCCCTCCTACTCTTCCCCCCAAGTCCCCAAAGTCCACTGTATCATTCTTAGGCCTTTGCATCCTCATAGCTTAGCTTCCACATATCAGTGAGAGCATACAATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTGTCCAGTCTCATCTAGGTCACTGCAAATGCTGTTAATTCATTCCTTTTTATGGCTGCATAGTATTCCATCATAGATACAGATATAGATGTAGATATATAGATGTAGATATATATAGATACACACACACACATAGATATATAGATGTAGATATAAATAGATATATATAGATACACACACACACACACACACACATATATATACACACCACCGTTTCTTTATCCAATCATTGATTAATGGGCATTTGGTTGGTTCCATGACTTTGCAATTGTGAATTGTGCTGCTATAAACATGCGTGTGCAAGTATCTTTTTCAAATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGAATTGCTGGATCAAATGGTAGTTTTCCATAGCGGCTGTACTAGTTTACATTCACACCAGCAGTGTAGAAGTGTTCCTGATCACCACATCCACGCCAGCATCTACTGTTTTTTGATTTTTTGATTATGGCCATTCTTACAGGAGTAAGGCGGCATCGCATTATGGTTTTGATTTGCATTTCCCTGATCATTAGTGATGTTCAGCATTTTTTCATATGTTTGTTGGCCATTTGTATATTTTCTTTTGAGAATTGTCTATTCATGTCCTTAGCCCACTTTTTTATGGGACTTTTTCTTACTGATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGTCTTTTGTCAGATGTATAGATTGTGAAGATTTTCTCCCACTCTGTGGTTGTCTGTTTACTCTGCTATTCCTTTTGCTGTGCAAAAGCTCTTTAGTTTAATTAGGTCCAGGCTATTTATCTTTGTTTTATCGTATTTGCTTTTGGGTTCTTGGTCATGAAATCCTTGCCTAAGCCAATGTCTAGAAGGGGTTTTCCCATGTAATCTTCTAGAATTTTTATAGTTTCAGATCTTAAAGTCCTTAATCCATCTTGAGTTGATTTTTGTATAAGG
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Task1_train_12880
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This alteration occurs within gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) located on Chromosome 9. Is it associated with a disease or is it a benign variant?
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Pathogenic; GNE myopathy
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TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACACCAGAAGGCACCACTACTATTCCAAGATTCAGGTTTCGATTCAGTTGAAAGCCCCTCTTTGGCTTAAGGCTTCGATAATCCATTTTCCGGAGGGAGTCCTGTACTGGGGAACAGGGCACTAAGCCAGATAATGATAAAGTGATGCCTTGATTCTTATTTTCCTATTGTTCCCTGTGTATAGCTTATCAAAAACCCTGTGGAGGGTAGAGGCAAGTGGCAGCCATGACTTAGATATACCTGGGACCCTTTACTTTCATAGAAAAAAAATACCTCTAATTCTAAAGTATATACAGCCAGGAAAGTGTATTATAAACAGAATATATCATTGACAATGAATGCTGAACGAGAATGATACATAGTTACATTACACATATTTATAAAAAATTTAAAGGTCAGAAAAGAATAAATATTAACATTTTTGAAATATTGATACATTACCTGGAAAAAATCTGGGTTGGGTATTCTTAAATTTTTTTCCAACTAATATCCTACTTTGTTCTCCCTAACAGAAAAGATTCTTCAAGGGAATACTAAGACAGGGGTTCTTTCAGAGTAAGTTGGTGATATCTTGACATTGCAGAGAATGGGTTCTGCCTCCTTTACCAAAAAAAAGCCTAAGAACTCAACAATGAGTGGTGTCAGCTAAAGATAACCAGTGTTTGGAAATTCTTCAGTGTTAGGCTATGTTCTGACATTTCTCATTAATATCTCACACCCCCATTAACTCGCCTAAGGTCTCAGCAGTACCAAAATCTATAGTACCATCCACTGGTAAGCAAGTGATCAGCCAGGGCAGGCTTGAGGATGAACCGGTTGGGACTGGCTGGGGACTCCAGATTTAAACTGCTTCAGCTCAAGATTACTTTAAGGTATAGCTAACATAAATATGAAAGAAAGCAAGAAAAAATATTAGTGGCTATTTTACTGTGGATAGTGGAATCACTACTTTTCTAGAGATTCTTTCACTTCAACTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACTGAGACTAGTGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCCCACCACTGTGGCTGGCTAATTATTGTATTTTAGCAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGTTCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGACCATCTTTCACTTCAACTTCTAAGATTTATGTCTCTTGGCTTCTGCAGTTTCTTAACTGGTGGAAACTGGAGGGAAAATATTAGTACTAAACATGAGACTAAAGTAGACAGTAGACAGACTTTTTATTATTAAGTTTCTACTGGACTTGGCAAAAACATTACAAACTTTTTGAGTTATAGCAAAATTGGTAATCCTTTGAAAATTGGAATGCATTTCAGAATAGAGTGCCCTTCAATGATAAGATGAGCAAGATAGGAAGGCAGTTAAAAGAAGTAATAGAAACATAAAATTGGGAAAAGTAGGTGGCATAATTTCATTTTCAAGTTCAATTACCTGCGTCAATATTTGGAAACAGGACTAGGGTCCGCTTGTTAAATGAGATAAGTGCATCCAATGTTAATTCAAACATTTTTATGGAATGCTTAATGTCAGTGGTCACAGGGTGCTGTAGTGCAACAATGTAATCTTTAGATTTTACATCATCACCTGTTTAAAGAAAATCAAACCACATTGCTTCATTAGTTAAGAATCTTAAAAGAGAAAGAAGCAAATTCTGAAAGCAAGACTCTAAGTCTGTGCTTTTAAAAATTCTACGATAGAAACAGTTTGTCAAATTGTGAACAGGGCATCCAAATTAGAGTCAAATGATAAGAATTTACAGCAACAAATCCAAGTATTCAGCAAACTTAACATTTTACAAAGACATGCTGCCACAAACATAACTTTAAATAGCAGGCACTAGAAATTCACTGTTTTAAAACCCAAACTATTCCAAAGCACTCAAAAAATGTGACTCTTCCCAATTTCTAACTAATGTTTTTAGTGAATATTCAGCAATATCAATGAATAATAATATGTTGCATATCAGGGCATTTTGAGGCTGAACAAGCATTAAACATATTTCCTAGAATGCACAGGAGCTTTCCTGTACTATCACCTACCAGATTCAACAAGTGGCAAGTGTTTCTAACTCTGTTAAAGGACTAGGAGAGTTTCGCTCATCCCTAGGCTGGGATCCCAAGGACGGTTCCTCAGCAAAAATTTAAAAGGTAAAAAGTTTAGATTGACAGTGCTATGTCAAACAACGCAAGGTATTTACCAATAGGGCCTATATTATCCCATAAAACTGAAAGTGAGCTCCACTTACTTTTTTTTTTAATTAAGTTTATTTATTTTTCCATAAGTTATTGGGGTATTAGGTGGTATTTGGTTACATGAGTTAGTTCTTTGGTGGTGATTTGTGAGATTTTGGTGCACCCATCACCTGAGCAGTATACTCTGTACCATATTTGTAGTCTTCTATCCCTCGCCCCCTCCTACTCTTCCCCCCAAGTCCCCAAAGTCCACTGTATCATTCTTAGGCCTTTGCATCCTCATAGCTTAGCTTCCACATATCAGTGAGAGCATACAATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTGTCCAGTCTCATCTAGGTCACTGCAAATGCTGTTAATTCATTCCTTTTTATGGCTGCATAGTATTCCATCATAGATACAGATATAGATGTAGATATATAGATGTAGATATATATAGATACACACACACACATAGATATATAGATGTAGATATAAATAGATATATATAGATACACACACACACACACACACACATATATATACACACCACCGTTTCTTTATCCAATCATTGATTAATGGGCATTTGGTTGGTTCCATGACTTTGCAATTGTGAATTGTGCTGCTATAAACATGCGTGTGCAAGTATCTTTTTCAAATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGAATTGCTGGATCAAATGGTAGTTTTCCATAGCGGCTGTACTAGTTTACATTCACACCAGCAGTGTAGAAGTGTTCCTGATCACCACATCCACGCCAGCATCTACTGTTTTTTGATTTTTTGATTATGGCCATTCTTACAGGAGTAAGGCGGCATCGCATTATGGTTTTGATTTGCATTTCCCTGATCATTAGTGATGTTCAGCATTTTTTCATATGTTTGTTGGCCATTTGTATATTTTCTTTTGAGAATTGTCTATTCATGTCCTTAGCCCACTTTTTTATGGGACTTTTTCTTACTGATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGTCTTTTGTCAGATGTATAGATTGTGAAGATTTTCTCCCACTCTGTGGTTGTCTGTTTACTCTGCTATTCCTTTTGCTGTGCAAAAGCTCTTTAGTTTAATTAGGTCCAGGCTATTTATCTTTGTTTTATCGTATTTGCTTTTGGGTTCTTGGTCATGAAATCCTTGCCTAAGCCAATGTCTAGAAGGGGTTTTCCCATGTAATCTTCTAGAATTTTTATAGTTTCAGATCTTAAAGTCCTTAATCCATCTTGAGTTGATTTTTGTATAAGG
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TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACACCAGAAGGCACCACTACTATTCCAAGATTCAGGTTTCGATTCAGTTGAAAGCCCCTCTTTGGCTTAAGGCTTCGATAATCCATTTTCCGGAGGGAGTCCTGTACTGGGGAACAGGGCACTAAGCCAGATAATGATAAAGTGATGCCTTGATTCTTATTTTCCTATTGTTCCCTGTGTATAGCTTATCAAAAACCCTGTGGAGGGTAGAGGCAAGTGGCAGCCATGACTTAGATATACCTGGGACCCTTTACTTTCATAGAAAAAAAATACCTCTAATTCTAAAGTATATACAGCCAGGAAAGTGTATTATAAACAGAATATATCATTGACAATGAATGCTGAACGAGAATGATACATAGTTACATTACACATATTTATAAAAAATTTAAAGGTCAGAAAAGAATAAATATTAACATTTTTGAAATATTGATACATTACCTGGAAAAAATCTGGGTTGGGTATTCTTAAATTTTTTTCCAACTAATATCCTACTTTGTTCTCCCTAACAGAAAAGATTCTTCAAGGGAATACTAAGACAGGGGTTCTTTCAGAGTAAGTTGGTGATATCTTGACATTGCAGAGAATGGGTTCTGCCTCCTTTACCAAAAAAAAGCCTAAGAACTCAACAATGAGTGGTGTCAGCTAAAGATAACCAGTGTTTGGAAATTCTTCAGTGTTAGGCTATGTTCTGACATTTCTCATTAATATCTCACACCCCCATTAACTCGCCTAAGGTCTCAGCAGTACCAAAATCTATAGTACCATCCACTGGTAAGCAAGTGATCAGCCAGGGCAGGCTTGAGGATGAACCGGTTGGGACTGGCTGGGGACTCCAGATTTAAACTGCTTCAGCTCAAGATTACTTTAAGGTATAGCTAACATAAATATGAAAGAAAGCAAGAAAAAATATTAGTGGCTATTTTACTGTGGATAGTGGAATCACTACTTTTCTAGAGATTCTTTCACTTCAACTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACTGAGACTAGTGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCCCACCACTGTGGCTGGCTAATTATTGTATTTTAGCAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGTTCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGACCATCTTTCACTTCAACTTCTAAGATTTATGTCTCTTGGCTTCTGCAGTTTCTTAACTGGTGGAAACTGGAGGGAAAATATTAGTACTAAACATGAGACTAAAGTAGACAGTAGACAGACTTTTTATTATTAAGTTTCTACTGGACTTGGCAAAAACATTACAAACTTTTTGAGTTATAGCAAAATTGGTAATCCTTTGAAAATTGGAATGCATTTCAGAATAGAGTGCCCTTCAATGATAAGATGAGCAAGATAGGAAGGCAGTTAAAAGAAGTAATAGAAACATAAAATTGGGAAAAGTAGGTGGCATAATTTCATTTTCAAGTTCAATTACCTGCGTCAATATTTGGAAACAGGACTAGGGTCCACTTGTTAAATGAGATAAGTGCATCCAATGTTAATTCAAACATTTTTATGGAATGCTTAATGTCAGTGGTCACAGGGTGCTGTAGTGCAACAATGTAATCTTTAGATTTTACATCATCACCTGTTTAAAGAAAATCAAACCACATTGCTTCATTAGTTAAGAATCTTAAAAGAGAAAGAAGCAAATTCTGAAAGCAAGACTCTAAGTCTGTGCTTTTAAAAATTCTACGATAGAAACAGTTTGTCAAATTGTGAACAGGGCATCCAAATTAGAGTCAAATGATAAGAATTTACAGCAACAAATCCAAGTATTCAGCAAACTTAACATTTTACAAAGACATGCTGCCACAAACATAACTTTAAATAGCAGGCACTAGAAATTCACTGTTTTAAAACCCAAACTATTCCAAAGCACTCAAAAAATGTGACTCTTCCCAATTTCTAACTAATGTTTTTAGTGAATATTCAGCAATATCAATGAATAATAATATGTTGCATATCAGGGCATTTTGAGGCTGAACAAGCATTAAACATATTTCCTAGAATGCACAGGAGCTTTCCTGTACTATCACCTACCAGATTCAACAAGTGGCAAGTGTTTCTAACTCTGTTAAAGGACTAGGAGAGTTTCGCTCATCCCTAGGCTGGGATCCCAAGGACGGTTCCTCAGCAAAAATTTAAAAGGTAAAAAGTTTAGATTGACAGTGCTATGTCAAACAACGCAAGGTATTTACCAATAGGGCCTATATTATCCCATAAAACTGAAAGTGAGCTCCACTTACTTTTTTTTTTAATTAAGTTTATTTATTTTTCCATAAGTTATTGGGGTATTAGGTGGTATTTGGTTACATGAGTTAGTTCTTTGGTGGTGATTTGTGAGATTTTGGTGCACCCATCACCTGAGCAGTATACTCTGTACCATATTTGTAGTCTTCTATCCCTCGCCCCCTCCTACTCTTCCCCCCAAGTCCCCAAAGTCCACTGTATCATTCTTAGGCCTTTGCATCCTCATAGCTTAGCTTCCACATATCAGTGAGAGCATACAATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTGTCCAGTCTCATCTAGGTCACTGCAAATGCTGTTAATTCATTCCTTTTTATGGCTGCATAGTATTCCATCATAGATACAGATATAGATGTAGATATATAGATGTAGATATATATAGATACACACACACACATAGATATATAGATGTAGATATAAATAGATATATATAGATACACACACACACACACACACACATATATATACACACCACCGTTTCTTTATCCAATCATTGATTAATGGGCATTTGGTTGGTTCCATGACTTTGCAATTGTGAATTGTGCTGCTATAAACATGCGTGTGCAAGTATCTTTTTCAAATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGAATTGCTGGATCAAATGGTAGTTTTCCATAGCGGCTGTACTAGTTTACATTCACACCAGCAGTGTAGAAGTGTTCCTGATCACCACATCCACGCCAGCATCTACTGTTTTTTGATTTTTTGATTATGGCCATTCTTACAGGAGTAAGGCGGCATCGCATTATGGTTTTGATTTGCATTTCCCTGATCATTAGTGATGTTCAGCATTTTTTCATATGTTTGTTGGCCATTTGTATATTTTCTTTTGAGAATTGTCTATTCATGTCCTTAGCCCACTTTTTTATGGGACTTTTTCTTACTGATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGTCTTTTGTCAGATGTATAGATTGTGAAGATTTTCTCCCACTCTGTGGTTGTCTGTTTACTCTGCTATTCCTTTTGCTGTGCAAAAGCTCTTTAGTTTAATTAGGTCCAGGCTATTTATCTTTGTTTTATCGTATTTGCTTTTGGGTTCTTGGTCATGAAATCCTTGCCTAAGCCAATGTCTAGAAGGGGTTTTCCCATGTAATCTTCTAGAATTTTTATAGTTTCAGATCTTAAAGTCCTTAATCCATCTTGAGTTGATTTTTGTATAAGG
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Task1_train_12881
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A variant has been detected on Chromosome 9 in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; GNE myopathy
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AGCCTCAACTACTCAGGCTCAAGTGACCCTCCCATCCCAGCCTCCCAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCCTAGGTAGTACTCTTACTATAAATTAACCAACTGACATTCTGTTTGTAAACTTGGATTTTTTTACCTCTGATTAGCAAAAGATAATTTCTAGGAAGCTAGAGCACTGAACAATAAAAATTTTGGAACATAGGGCTTATTTACAAAGATATACTCTAAGGCTACAACTATGACTTTTGCTTTTTAATAATCATCATAATCCCTTATATTAATAAGTACTTATGGCTTACTGCTTCCAACATTCATAATCTGAGTATTCCAACAATTCTATAAGAAAAGCATTAAAAATAAAAATGAGCCAGGCGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATTATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCGAGACTGAGCCACTGCACTACAGGCTAGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAATGACCATTTTGCCAATGTAGTAAAAAATTTCAGAAAATCAGGCCAGGCACGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAAAAACCCTGTCTTTACTAAAAATATGAAATTAGCCAGGCATAGTAATCCCAGCCACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAACCTGGATGACAGAGCAAGACTCTGTCTCAAAAAACAAAAAAAAAATTCAGAAAATCAAACATAAAAACACCCATAATCCCACACCAGAAATAAATATAATAAATGACTTGGTGTACATACTTCCTAACCATTCCATTATTACAGTTTTTAGTAAAATGGCAGATTACAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGCCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAATTAAAAATAGAAAAATTAGCCGGTCATGGTGGTCCACGCTTGCAATCCCACATACTTGGGAGGCTGAGGCAGGAGCATCACTTGAACCTGGGAGGCAGAGGATGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCCATCTCAAAAAATAAAATAAATAAAATAAAATGAAATGGCATATTACACTTATAATTTTATAGCTCCCCCTTTTGACATATTAGGATCGTTCTTATAACTAATATATTTAATGGATTAAAAGCATTCCATTCTATAAATATAGCAGAGATTTTTAAAACTCAATCCACTAAGCCTATTTTACAGAAAAGGTAAACCTCAGAGAGGTAAAGTCATACCACAGGGCAAGGTCTATGAACTAAAACCTTGGCCTTCTCATTGCTAACAGAGTATTCTATCCATAATAGTTTCCAAAAGGATTGAAATAGACGGAACATTTTCTGACAAAAACAGCCATTAGACTGACTAAAGTCTGAGATACGTACCTAGCCACATGCGAATGATGCTCATGTAGTCTTTGTTCTTGGCTGAGAGAAGTTTGTCATAGGAAGGGCAGCCTGCCAAAAGGATGCGATCATGGTCCTCACACATGGATATCAGGTGCTGCTCTGCACTGCGGGTGCAGCACACATGATAATGAGCCAGTTTTGTTATGGCATGTCTGATAGAGTCATCAATGGTCCCACTGACTTCCCCACCTTCAATGTGAAGGATTCGGATGTTCATCAAGGCAGCAGATGTGGCCAGAGCCAGGGCATCAAACCTGTCTCCATGAACAATCATGATATCAGGCTTCAGGCGATTAAGGACATCTGGCAGCTTCACTAGGGCCAGGCCTACTGACTCCACCATGGCTGCCTCATCTTCTCCCCTCACAATTGTGTGTAGCCTGGTGTTAATGTCAAAGTCATCTTGTTCAATCATTCGATATGTATTTCTAAAGCCGGGGAGAAATAAAGATATAAGAACATGTTCTTAAACACAGAGCCGTAACATGCAAGAAAAGCAATCTAACACCAACTCTGAAGTGAGAAACATTAAAATAAATAAATTGAAGTATAACTTACAAACATAAAAAGCATAGACCATAAGTGTAAACAGCCTGATTAAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCGCGATCTAGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGATTACAGGCATGTACCACCACACCCAGCTAATTTTTCTATTTTTAGTACAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGACCTACCAAAGTGCTGGGATTACACGCGTGAGCGACTGCACCCGGCCAGAGAATTTTTTTATTAGGAAGAAAGAGACTAAACTTTTAACAGTGGTCAGCACTTTTTATATACACTTAGGGGAAAATGTTTTTTACCCTTTTTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGTGCGATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCTGAGAGCCTCTCTTCCACTAGTCTTCCTGTCAAAGCTTTCTCAGAGCAGTAAAAGAACCCACTCAAACTTTCATCTCAGGCTCTAGCTAAAATTTCTGTTCTACTGAGAGGATGCTCCTAAATAGCCAGAATTCATTTTATATTAAAAAAAAATCTGGACGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTGTGGATCCCTGAGCTATCCATTAAGTTTCTTCTCTACTCTTTAAGTATTTCCTAGTAGCGAATTCCCACCTTGTTTTTAAAGAATA
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AGCCTCAACTACTCAGGCTCAAGTGACCCTCCCATCCCAGCCTCCCAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCCTAGGTAGTACTCTTACTATAAATTAACCAACTGACATTCTGTTTGTAAACTTGGATTTTTTTACCTCTGATTAGCAAAAGATAATTTCTAGGAAGCTAGAGCACTGAACAATAAAAATTTTGGAACATAGGGCTTATTTACAAAGATATACTCTAAGGCTACAACTATGACTTTTGCTTTTTAATAATCATCATAATCCCTTATATTAATAAGTACTTATGGCTTACTGCTTCCAACATTCATAATCTGAGTATTCCAACAATTCTATAAGAAAAGCATTAAAAATAAAAATGAGCCAGGCGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATTATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCGAGACTGAGCCACTGCACTACAGGCTAGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAATGACCATTTTGCCAATGTAGTAAAAAATTTCAGAAAATCAGGCCAGGCACGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAAAAACCCTGTCTTTACTAAAAATATGAAATTAGCCAGGCATAGTAATCCCAGCCACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAACCTGGATGACAGAGCAAGACTCTGTCTCAAAAAACAAAAAAAAAATTCAGAAAATCAAACATAAAAACACCCATAATCCCACACCAGAAATAAATATAATAAATGACTTGGTGTACATACTTCCTAACCATTCCATTATTACAGTTTTTAGTAAAATGGCAGATTACAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGCCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAATTAAAAATAGAAAAATTAGCCGGTCATGGTGGTCCACGCTTGCAATCCCACATACTTGGGAGGCTGAGGCAGGAGCATCACTTGAACCTGGGAGGCAGAGGATGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCCATCTCAAAAAATAAAATAAATAAAATAAAATGAAATGGCATATTACACTTATAATTTTATAGCTCCCCCTTTTGACATATTAGGATCGTTCTTATAACTAATATATTTAATGGATTAAAAGCATTCCATTCTATAAATATAGCAGAGATTTTTAAAACTCAATCCACTAAGCCTATTTTACAGAAAAGGTAAACCTCAGAGAGGTAAAGTCATACCACAGGGCAAGGTCTATGAACTAAAACCTTGGCCTTCTCATTGCTAACAGAGTATTCTATCCATAATAGTTTCCAAAAGGATTGAAATAGACGGAACATTTTCTGACAAAAACAGCCATTAGACTGACTAAAGTCTGAGATACGTACCTAGCCACATGCGAATGATGCTCATGTAGTCTTTGTTCTTGGCTGAGAGAAGTTTGTCATGGGAAGGGCAGCCTGCCAAAAGGATGCGATCATGGTCCTCACACATGGATATCAGGTGCTGCTCTGCACTGCGGGTGCAGCACACATGATAATGAGCCAGTTTTGTTATGGCATGTCTGATAGAGTCATCAATGGTCCCACTGACTTCCCCACCTTCAATGTGAAGGATTCGGATGTTCATCAAGGCAGCAGATGTGGCCAGAGCCAGGGCATCAAACCTGTCTCCATGAACAATCATGATATCAGGCTTCAGGCGATTAAGGACATCTGGCAGCTTCACTAGGGCCAGGCCTACTGACTCCACCATGGCTGCCTCATCTTCTCCCCTCACAATTGTGTGTAGCCTGGTGTTAATGTCAAAGTCATCTTGTTCAATCATTCGATATGTATTTCTAAAGCCGGGGAGAAATAAAGATATAAGAACATGTTCTTAAACACAGAGCCGTAACATGCAAGAAAAGCAATCTAACACCAACTCTGAAGTGAGAAACATTAAAATAAATAAATTGAAGTATAACTTACAAACATAAAAAGCATAGACCATAAGTGTAAACAGCCTGATTAAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCGCGATCTAGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGATTACAGGCATGTACCACCACACCCAGCTAATTTTTCTATTTTTAGTACAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGACCTACCAAAGTGCTGGGATTACACGCGTGAGCGACTGCACCCGGCCAGAGAATTTTTTTATTAGGAAGAAAGAGACTAAACTTTTAACAGTGGTCAGCACTTTTTATATACACTTAGGGGAAAATGTTTTTTACCCTTTTTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGTGCGATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCTGAGAGCCTCTCTTCCACTAGTCTTCCTGTCAAAGCTTTCTCAGAGCAGTAAAAGAACCCACTCAAACTTTCATCTCAGGCTCTAGCTAAAATTTCTGTTCTACTGAGAGGATGCTCCTAAATAGCCAGAATTCATTTTATATTAAAAAAAAATCTGGACGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTGTGGATCCCTGAGCTATCCATTAAGTTTCTTCTCTACTCTTTAAGTATTTCCTAGTAGCGAATTCCCACCTTGTTTTTAAAGAATA
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Task1_train_12882
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A variant was discovered in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Sialuria
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AGCCTCAACTACTCAGGCTCAAGTGACCCTCCCATCCCAGCCTCCCAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCCTAGGTAGTACTCTTACTATAAATTAACCAACTGACATTCTGTTTGTAAACTTGGATTTTTTTACCTCTGATTAGCAAAAGATAATTTCTAGGAAGCTAGAGCACTGAACAATAAAAATTTTGGAACATAGGGCTTATTTACAAAGATATACTCTAAGGCTACAACTATGACTTTTGCTTTTTAATAATCATCATAATCCCTTATATTAATAAGTACTTATGGCTTACTGCTTCCAACATTCATAATCTGAGTATTCCAACAATTCTATAAGAAAAGCATTAAAAATAAAAATGAGCCAGGCGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATTATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCGAGACTGAGCCACTGCACTACAGGCTAGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAATGACCATTTTGCCAATGTAGTAAAAAATTTCAGAAAATCAGGCCAGGCACGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAAAAACCCTGTCTTTACTAAAAATATGAAATTAGCCAGGCATAGTAATCCCAGCCACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAACCTGGATGACAGAGCAAGACTCTGTCTCAAAAAACAAAAAAAAAATTCAGAAAATCAAACATAAAAACACCCATAATCCCACACCAGAAATAAATATAATAAATGACTTGGTGTACATACTTCCTAACCATTCCATTATTACAGTTTTTAGTAAAATGGCAGATTACAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGCCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAATTAAAAATAGAAAAATTAGCCGGTCATGGTGGTCCACGCTTGCAATCCCACATACTTGGGAGGCTGAGGCAGGAGCATCACTTGAACCTGGGAGGCAGAGGATGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCCATCTCAAAAAATAAAATAAATAAAATAAAATGAAATGGCATATTACACTTATAATTTTATAGCTCCCCCTTTTGACATATTAGGATCGTTCTTATAACTAATATATTTAATGGATTAAAAGCATTCCATTCTATAAATATAGCAGAGATTTTTAAAACTCAATCCACTAAGCCTATTTTACAGAAAAGGTAAACCTCAGAGAGGTAAAGTCATACCACAGGGCAAGGTCTATGAACTAAAACCTTGGCCTTCTCATTGCTAACAGAGTATTCTATCCATAATAGTTTCCAAAAGGATTGAAATAGACGGAACATTTTCTGACAAAAACAGCCATTAGACTGACTAAAGTCTGAGATACGTACCTAGCCACATGCGAATGATGCTCATGTAGTCTTTGTTCTTGGCTGAGAGAAGTTTGTCATAGGAAGGGCAGCCTGCCAAAAGGATGCGATCATGGTCCTCACACATGGATATCAGGTGCTGCTCTGCACTGCGGGTGCAGCACACATGATAATGAGCCAGTTTTGTTATGGCATGTCTGATAGAGTCATCAATGGTCCCACTGACTTCCCCACCTTCAATGTGAAGGATTCGGATGTTCATCAAGGCAGCAGATGTGGCCAGAGCCAGGGCATCAAACCTGTCTCCATGAACAATCATGATATCAGGCTTCAGGCGATTAAGGACATCTGGCAGCTTCACTAGGGCCAGGCCTACTGACTCCACCATGGCTGCCTCATCTTCTCCCCTCACAATTGTGTGTAGCCTGGTGTTAATGTCAAAGTCATCTTGTTCAATCATTCGATATGTATTTCTAAAGCCGGGGAGAAATAAAGATATAAGAACATGTTCTTAAACACAGAGCCGTAACATGCAAGAAAAGCAATCTAACACCAACTCTGAAGTGAGAAACATTAAAATAAATAAATTGAAGTATAACTTACAAACATAAAAAGCATAGACCATAAGTGTAAACAGCCTGATTAAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCGCGATCTAGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGATTACAGGCATGTACCACCACACCCAGCTAATTTTTCTATTTTTAGTACAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGACCTACCAAAGTGCTGGGATTACACGCGTGAGCGACTGCACCCGGCCAGAGAATTTTTTTATTAGGAAGAAAGAGACTAAACTTTTAACAGTGGTCAGCACTTTTTATATACACTTAGGGGAAAATGTTTTTTACCCTTTTTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGTGCGATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCTGAGAGCCTCTCTTCCACTAGTCTTCCTGTCAAAGCTTTCTCAGAGCAGTAAAAGAACCCACTCAAACTTTCATCTCAGGCTCTAGCTAAAATTTCTGTTCTACTGAGAGGATGCTCCTAAATAGCCAGAATTCATTTTATATTAAAAAAAAATCTGGACGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTGTGGATCCCTGAGCTATCCATTAAGTTTCTTCTCTACTCTTTAAGTATTTCCTAGTAGCGAATTCCCACCTTGTTTTTAAAGAATA
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AGCCTCAACTACTCAGGCTCAAGTGACCCTCCCATCCCAGCCTCCCAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCCTAGGTAGTACTCTTACTATAAATTAACCAACTGACATTCTGTTTGTAAACTTGGATTTTTTTACCTCTGATTAGCAAAAGATAATTTCTAGGAAGCTAGAGCACTGAACAATAAAAATTTTGGAACATAGGGCTTATTTACAAAGATATACTCTAAGGCTACAACTATGACTTTTGCTTTTTAATAATCATCATAATCCCTTATATTAATAAGTACTTATGGCTTACTGCTTCCAACATTCATAATCTGAGTATTCCAACAATTCTATAAGAAAAGCATTAAAAATAAAAATGAGCCAGGCGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATTATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCGAGACTGAGCCACTGCACTACAGGCTAGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAATGACCATTTTGCCAATGTAGTAAAAAATTTCAGAAAATCAGGCCAGGCACGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAAAAACCCTGTCTTTACTAAAAATATGAAATTAGCCAGGCATAGTAATCCCAGCCACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAACCTGGATGACAGAGCAAGACTCTGTCTCAAAAAACAAAAAAAAAATTCAGAAAATCAAACATAAAAACACCCATAATCCCACACCAGAAATAAATATAATAAATGACTTGGTGTACATACTTCCTAACCATTCCATTATTACAGTTTTTAGTAAAATGGCAGATTACAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGCCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAATTAAAAATAGAAAAATTAGCCGGTCATGGTGGTCCACGCTTGCAATCCCACATACTTGGGAGGCTGAGGCAGGAGCATCACTTGAACCTGGGAGGCAGAGGATGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCCATCTCAAAAAATAAAATAAATAAAATAAAATGAAATGGCATATTACACTTATAATTTTATAGCTCCCCCTTTTGACATATTAGGATCGTTCTTATAACTAATATATTTAATGGATTAAAAGCATTCCATTCTATAAATATAGCAGAGATTTTTAAAACTCAATCCACTAAGCCTATTTTACAGAAAAGGTAAACCTCAGAGAGGTAAAGTCATACCACAGGGCAAGGTCTATGAACTAAAACCTTGGCCTTCTCATTGCTAACAGAGTATTCTATCCATAATAGTTTCCAAAAGGATTGAAATAGACGGAACATTTTCTGACAAAAACAGCCATTAGACTGACTAAAGTCTGAGATACGTACCTAGCCACATGCGAATGATGCTCATGTAGTCTTTGTTCTTGGCTGAGAGAAGTTTGTCATGGGAAGGGCAGCCTGCCAAAAGGATGCGATCATGGTCCTCACACATGGATATCAGGTGCTGCTCTGCACTGCGGGTGCAGCACACATGATAATGAGCCAGTTTTGTTATGGCATGTCTGATAGAGTCATCAATGGTCCCACTGACTTCCCCACCTTCAATGTGAAGGATTCGGATGTTCATCAAGGCAGCAGATGTGGCCAGAGCCAGGGCATCAAACCTGTCTCCATGAACAATCATGATATCAGGCTTCAGGCGATTAAGGACATCTGGCAGCTTCACTAGGGCCAGGCCTACTGACTCCACCATGGCTGCCTCATCTTCTCCCCTCACAATTGTGTGTAGCCTGGTGTTAATGTCAAAGTCATCTTGTTCAATCATTCGATATGTATTTCTAAAGCCGGGGAGAAATAAAGATATAAGAACATGTTCTTAAACACAGAGCCGTAACATGCAAGAAAAGCAATCTAACACCAACTCTGAAGTGAGAAACATTAAAATAAATAAATTGAAGTATAACTTACAAACATAAAAAGCATAGACCATAAGTGTAAACAGCCTGATTAAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCGCGATCTAGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGATTACAGGCATGTACCACCACACCCAGCTAATTTTTCTATTTTTAGTACAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGACCTACCAAAGTGCTGGGATTACACGCGTGAGCGACTGCACCCGGCCAGAGAATTTTTTTATTAGGAAGAAAGAGACTAAACTTTTAACAGTGGTCAGCACTTTTTATATACACTTAGGGGAAAATGTTTTTTACCCTTTTTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGTGCGATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCTGAGAGCCTCTCTTCCACTAGTCTTCCTGTCAAAGCTTTCTCAGAGCAGTAAAAGAACCCACTCAAACTTTCATCTCAGGCTCTAGCTAAAATTTCTGTTCTACTGAGAGGATGCTCCTAAATAGCCAGAATTCATTTTATATTAAAAAAAAATCTGGACGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTGTGGATCCCTGAGCTATCCATTAAGTTTCTTCTCTACTCTTTAAGTATTTCCTAGTAGCGAATTCCCACCTTGTTTTTAAAGAATA
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Task1_train_12883
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Chromosome 9 houses a mutation in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; GNE myopathy
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AGCCTCAACTACTCAGGCTCAAGTGACCCTCCCATCCCAGCCTCCCAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCCTAGGTAGTACTCTTACTATAAATTAACCAACTGACATTCTGTTTGTAAACTTGGATTTTTTTACCTCTGATTAGCAAAAGATAATTTCTAGGAAGCTAGAGCACTGAACAATAAAAATTTTGGAACATAGGGCTTATTTACAAAGATATACTCTAAGGCTACAACTATGACTTTTGCTTTTTAATAATCATCATAATCCCTTATATTAATAAGTACTTATGGCTTACTGCTTCCAACATTCATAATCTGAGTATTCCAACAATTCTATAAGAAAAGCATTAAAAATAAAAATGAGCCAGGCGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATTATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCGAGACTGAGCCACTGCACTACAGGCTAGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAATGACCATTTTGCCAATGTAGTAAAAAATTTCAGAAAATCAGGCCAGGCACGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAAAAACCCTGTCTTTACTAAAAATATGAAATTAGCCAGGCATAGTAATCCCAGCCACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAACCTGGATGACAGAGCAAGACTCTGTCTCAAAAAACAAAAAAAAAATTCAGAAAATCAAACATAAAAACACCCATAATCCCACACCAGAAATAAATATAATAAATGACTTGGTGTACATACTTCCTAACCATTCCATTATTACAGTTTTTAGTAAAATGGCAGATTACAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGCCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAATTAAAAATAGAAAAATTAGCCGGTCATGGTGGTCCACGCTTGCAATCCCACATACTTGGGAGGCTGAGGCAGGAGCATCACTTGAACCTGGGAGGCAGAGGATGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCCATCTCAAAAAATAAAATAAATAAAATAAAATGAAATGGCATATTACACTTATAATTTTATAGCTCCCCCTTTTGACATATTAGGATCGTTCTTATAACTAATATATTTAATGGATTAAAAGCATTCCATTCTATAAATATAGCAGAGATTTTTAAAACTCAATCCACTAAGCCTATTTTACAGAAAAGGTAAACCTCAGAGAGGTAAAGTCATACCACAGGGCAAGGTCTATGAACTAAAACCTTGGCCTTCTCATTGCTAACAGAGTATTCTATCCATAATAGTTTCCAAAAGGATTGAAATAGACGGAACATTTTCTGACAAAAACAGCCATTAGACTGACTAAAGTCTGAGATACGTACCTAGCCACATGCGAATGATGCTCATGTAGTCTTTGTTCTTGGCTGAGAGAAGTTTGTCATAGGAAGGGCAGCCTGCCAAAAGGATGCGATCATGGTCCTCACACATGGATATCAGGTGCTGCTCTGCACTGCGGGTGCAGCACACATGATAATGAGCCAGTTTTGTTATGGCATGTCTGATAGAGTCATCAATGGTCCCACTGACTTCCCCACCTTCAATGTGAAGGATTCGGATGTTCATCAAGGCAGCAGATGTGGCCAGAGCCAGGGCATCAAACCTGTCTCCATGAACAATCATGATATCAGGCTTCAGGCGATTAAGGACATCTGGCAGCTTCACTAGGGCCAGGCCTACTGACTCCACCATGGCTGCCTCATCTTCTCCCCTCACAATTGTGTGTAGCCTGGTGTTAATGTCAAAGTCATCTTGTTCAATCATTCGATATGTATTTCTAAAGCCGGGGAGAAATAAAGATATAAGAACATGTTCTTAAACACAGAGCCGTAACATGCAAGAAAAGCAATCTAACACCAACTCTGAAGTGAGAAACATTAAAATAAATAAATTGAAGTATAACTTACAAACATAAAAAGCATAGACCATAAGTGTAAACAGCCTGATTAAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCGCGATCTAGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGATTACAGGCATGTACCACCACACCCAGCTAATTTTTCTATTTTTAGTACAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGACCTACCAAAGTGCTGGGATTACACGCGTGAGCGACTGCACCCGGCCAGAGAATTTTTTTATTAGGAAGAAAGAGACTAAACTTTTAACAGTGGTCAGCACTTTTTATATACACTTAGGGGAAAATGTTTTTTACCCTTTTTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGTGCGATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCTGAGAGCCTCTCTTCCACTAGTCTTCCTGTCAAAGCTTTCTCAGAGCAGTAAAAGAACCCACTCAAACTTTCATCTCAGGCTCTAGCTAAAATTTCTGTTCTACTGAGAGGATGCTCCTAAATAGCCAGAATTCATTTTATATTAAAAAAAAATCTGGACGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTGTGGATCCCTGAGCTATCCATTAAGTTTCTTCTCTACTCTTTAAGTATTTCCTAGTAGCGAATTCCCACCTTGTTTTTAAAGAATA
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AGCCTCAACTACTCAGGCTCAAGTGACCCTCCCATCCCAGCCTCCCAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCCTAGGTAGTACTCTTACTATAAATTAACCAACTGACATTCTGTTTGTAAACTTGGATTTTTTTACCTCTGATTAGCAAAAGATAATTTCTAGGAAGCTAGAGCACTGAACAATAAAAATTTTGGAACATAGGGCTTATTTACAAAGATATACTCTAAGGCTACAACTATGACTTTTGCTTTTTAATAATCATCATAATCCCTTATATTAATAAGTACTTATGGCTTACTGCTTCCAACATTCATAATCTGAGTATTCCAACAATTCTATAAGAAAAGCATTAAAAATAAAAATGAGCCAGGCGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATTATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCGAGACTGAGCCACTGCACTACAGGCTAGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAATGACCATTTTGCCAATGTAGTAAAAAATTTCAGAAAATCAGGCCAGGCACGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAAAAACCCTGTCTTTACTAAAAATATGAAATTAGCCAGGCATAGTAATCCCAGCCACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAACCTGGATGACAGAGCAAGACTCTGTCTCAAAAAACAAAAAAAAAATTCAGAAAATCAAACATAAAAACACCCATAATCCCACACCAGAAATAAATATAATAAATGACTTGGTGTACATACTTCCTAACCATTCCATTATTACAGTTTTTAGTAAAATGGCAGATTACAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGCCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAATTAAAAATAGAAAAATTAGCCGGTCATGGTGGTCCACGCTTGCAATCCCACATACTTGGGAGGCTGAGGCAGGAGCATCACTTGAACCTGGGAGGCAGAGGATGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCCATCTCAAAAAATAAAATAAATAAAATAAAATGAAATGGCATATTACACTTATAATTTTATAGCTCCCCCTTTTGACATATTAGGATCGTTCTTATAACTAATATATTTAATGGATTAAAAGCATTCCATTCTATAAATATAGCAGAGATTTTTAAAACTCAATCCACTAAGCCTATTTTACAGAAAAGGTAAACCTCAGAGAGGTAAAGTCATACCACAGGGCAAGGTCTATGAACTAAAACCTTGGCCTTCTCATTGCTAACAGAGTATTCTATCCATAATAGTTTCCAAAAGGATTGAAATAGACGGAACATTTTCTGACAAAAACAGCCATTAGACTGACTAAAGTCTGAGATACGTACCTAGCCACATGCGAATGATGCTCATGTAGTCTTTGTTCTTGGCTGAGAGAAGTTTGTCATGGGAAGGGCAGCCTGCCAAAAGGATGCGATCATGGTCCTCACACATGGATATCAGGTGCTGCTCTGCACTGCGGGTGCAGCACACATGATAATGAGCCAGTTTTGTTATGGCATGTCTGATAGAGTCATCAATGGTCCCACTGACTTCCCCACCTTCAATGTGAAGGATTCGGATGTTCATCAAGGCAGCAGATGTGGCCAGAGCCAGGGCATCAAACCTGTCTCCATGAACAATCATGATATCAGGCTTCAGGCGATTAAGGACATCTGGCAGCTTCACTAGGGCCAGGCCTACTGACTCCACCATGGCTGCCTCATCTTCTCCCCTCACAATTGTGTGTAGCCTGGTGTTAATGTCAAAGTCATCTTGTTCAATCATTCGATATGTATTTCTAAAGCCGGGGAGAAATAAAGATATAAGAACATGTTCTTAAACACAGAGCCGTAACATGCAAGAAAAGCAATCTAACACCAACTCTGAAGTGAGAAACATTAAAATAAATAAATTGAAGTATAACTTACAAACATAAAAAGCATAGACCATAAGTGTAAACAGCCTGATTAAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCGCGATCTAGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGATTACAGGCATGTACCACCACACCCAGCTAATTTTTCTATTTTTAGTACAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGACCTACCAAAGTGCTGGGATTACACGCGTGAGCGACTGCACCCGGCCAGAGAATTTTTTTATTAGGAAGAAAGAGACTAAACTTTTAACAGTGGTCAGCACTTTTTATATACACTTAGGGGAAAATGTTTTTTACCCTTTTTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGTGCGATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCTGAGAGCCTCTCTTCCACTAGTCTTCCTGTCAAAGCTTTCTCAGAGCAGTAAAAGAACCCACTCAAACTTTCATCTCAGGCTCTAGCTAAAATTTCTGTTCTACTGAGAGGATGCTCCTAAATAGCCAGAATTCATTTTATATTAAAAAAAAATCTGGACGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTGTGGATCCCTGAGCTATCCATTAAGTTTCTTCTCTACTCTTTAAGTATTTCCTAGTAGCGAATTCCCACCTTGTTTTTAAAGAATA
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Task1_train_12884
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This gene mutation involves GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Is it associated with any clinical condition, or is it benign?
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Pathogenic; GNE myopathy
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CAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCCTAGGTAGTACTCTTACTATAAATTAACCAACTGACATTCTGTTTGTAAACTTGGATTTTTTTACCTCTGATTAGCAAAAGATAATTTCTAGGAAGCTAGAGCACTGAACAATAAAAATTTTGGAACATAGGGCTTATTTACAAAGATATACTCTAAGGCTACAACTATGACTTTTGCTTTTTAATAATCATCATAATCCCTTATATTAATAAGTACTTATGGCTTACTGCTTCCAACATTCATAATCTGAGTATTCCAACAATTCTATAAGAAAAGCATTAAAAATAAAAATGAGCCAGGCGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATTATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCGAGACTGAGCCACTGCACTACAGGCTAGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAATGACCATTTTGCCAATGTAGTAAAAAATTTCAGAAAATCAGGCCAGGCACGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAAAAACCCTGTCTTTACTAAAAATATGAAATTAGCCAGGCATAGTAATCCCAGCCACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAACCTGGATGACAGAGCAAGACTCTGTCTCAAAAAACAAAAAAAAAATTCAGAAAATCAAACATAAAAACACCCATAATCCCACACCAGAAATAAATATAATAAATGACTTGGTGTACATACTTCCTAACCATTCCATTATTACAGTTTTTAGTAAAATGGCAGATTACAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGCCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAATTAAAAATAGAAAAATTAGCCGGTCATGGTGGTCCACGCTTGCAATCCCACATACTTGGGAGGCTGAGGCAGGAGCATCACTTGAACCTGGGAGGCAGAGGATGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCCATCTCAAAAAATAAAATAAATAAAATAAAATGAAATGGCATATTACACTTATAATTTTATAGCTCCCCCTTTTGACATATTAGGATCGTTCTTATAACTAATATATTTAATGGATTAAAAGCATTCCATTCTATAAATATAGCAGAGATTTTTAAAACTCAATCCACTAAGCCTATTTTACAGAAAAGGTAAACCTCAGAGAGGTAAAGTCATACCACAGGGCAAGGTCTATGAACTAAAACCTTGGCCTTCTCATTGCTAACAGAGTATTCTATCCATAATAGTTTCCAAAAGGATTGAAATAGACGGAACATTTTCTGACAAAAACAGCCATTAGACTGACTAAAGTCTGAGATACGTACCTAGCCACATGCGAATGATGCTCATGTAGTCTTTGTTCTTGGCTGAGAGAAGTTTGTCATAGGAAGGGCAGCCTGCCAAAAGGATGCGATCATGGTCCTCACACATGGATATCAGGTGCTGCTCTGCACTGCGGGTGCAGCACACATGATAATGAGCCAGTTTTGTTATGGCATGTCTGATAGAGTCATCAATGGTCCCACTGACTTCCCCACCTTCAATGTGAAGGATTCGGATGTTCATCAAGGCAGCAGATGTGGCCAGAGCCAGGGCATCAAACCTGTCTCCATGAACAATCATGATATCAGGCTTCAGGCGATTAAGGACATCTGGCAGCTTCACTAGGGCCAGGCCTACTGACTCCACCATGGCTGCCTCATCTTCTCCCCTCACAATTGTGTGTAGCCTGGTGTTAATGTCAAAGTCATCTTGTTCAATCATTCGATATGTATTTCTAAAGCCGGGGAGAAATAAAGATATAAGAACATGTTCTTAAACACAGAGCCGTAACATGCAAGAAAAGCAATCTAACACCAACTCTGAAGTGAGAAACATTAAAATAAATAAATTGAAGTATAACTTACAAACATAAAAAGCATAGACCATAAGTGTAAACAGCCTGATTAAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCGCGATCTAGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGATTACAGGCATGTACCACCACACCCAGCTAATTTTTCTATTTTTAGTACAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGACCTACCAAAGTGCTGGGATTACACGCGTGAGCGACTGCACCCGGCCAGAGAATTTTTTTATTAGGAAGAAAGAGACTAAACTTTTAACAGTGGTCAGCACTTTTTATATACACTTAGGGGAAAATGTTTTTTACCCTTTTTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGTGCGATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCTGAGAGCCTCTCTTCCACTAGTCTTCCTGTCAAAGCTTTCTCAGAGCAGTAAAAGAACCCACTCAAACTTTCATCTCAGGCTCTAGCTAAAATTTCTGTTCTACTGAGAGGATGCTCCTAAATAGCCAGAATTCATTTTATATTAAAAAAAAATCTGGACGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTGTGGATCCCTGAGCTATCCATTAAGTTTCTTCTCTACTCTTTAAGTATTTCCTAGTAGCGAATTCCCACCTTGTTTTTAAAGAATAGTCTGAAAAGGACAATTTTATTTTAACGCAAGGTTCTTTCAGATA
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CAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCCTAGGTAGTACTCTTACTATAAATTAACCAACTGACATTCTGTTTGTAAACTTGGATTTTTTTACCTCTGATTAGCAAAAGATAATTTCTAGGAAGCTAGAGCACTGAACAATAAAAATTTTGGAACATAGGGCTTATTTACAAAGATATACTCTAAGGCTACAACTATGACTTTTGCTTTTTAATAATCATCATAATCCCTTATATTAATAAGTACTTATGGCTTACTGCTTCCAACATTCATAATCTGAGTATTCCAACAATTCTATAAGAAAAGCATTAAAAATAAAAATGAGCCAGGCGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATTATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCGAGACTGAGCCACTGCACTACAGGCTAGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAATGACCATTTTGCCAATGTAGTAAAAAATTTCAGAAAATCAGGCCAGGCACGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAAAAACCCTGTCTTTACTAAAAATATGAAATTAGCCAGGCATAGTAATCCCAGCCACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAACCTGGATGACAGAGCAAGACTCTGTCTCAAAAAACAAAAAAAAAATTCAGAAAATCAAACATAAAAACACCCATAATCCCACACCAGAAATAAATATAATAAATGACTTGGTGTACATACTTCCTAACCATTCCATTATTACAGTTTTTAGTAAAATGGCAGATTACAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGCCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAATTAAAAATAGAAAAATTAGCCGGTCATGGTGGTCCACGCTTGCAATCCCACATACTTGGGAGGCTGAGGCAGGAGCATCACTTGAACCTGGGAGGCAGAGGATGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCCATCTCAAAAAATAAAATAAATAAAATAAAATGAAATGGCATATTACACTTATAATTTTATAGCTCCCCCTTTTGACATATTAGGATCGTTCTTATAACTAATATATTTAATGGATTAAAAGCATTCCATTCTATAAATATAGCAGAGATTTTTAAAACTCAATCCACTAAGCCTATTTTACAGAAAAGGTAAACCTCAGAGAGGTAAAGTCATACCACAGGGCAAGGTCTATGAACTAAAACCTTGGCCTTCTCATTGCTAACAGAGTATTCTATCCATAATAGTTTCCAAAAGGATTGAAATAGACGGAACATTTTCTGACAAAAACAGCCATTAGACTGACTAAAGTCTGAGATACGTACCTAGCCACATGCGAATGATGCTCATGTAGTCTTTGTTCTTGGCTGAGAGAAGTTTGTCATAGGAAGGGCAGCCTGCCAAAAGGATGCGATCATGGTCCTCACACACGGATATCAGGTGCTGCTCTGCACTGCGGGTGCAGCACACATGATAATGAGCCAGTTTTGTTATGGCATGTCTGATAGAGTCATCAATGGTCCCACTGACTTCCCCACCTTCAATGTGAAGGATTCGGATGTTCATCAAGGCAGCAGATGTGGCCAGAGCCAGGGCATCAAACCTGTCTCCATGAACAATCATGATATCAGGCTTCAGGCGATTAAGGACATCTGGCAGCTTCACTAGGGCCAGGCCTACTGACTCCACCATGGCTGCCTCATCTTCTCCCCTCACAATTGTGTGTAGCCTGGTGTTAATGTCAAAGTCATCTTGTTCAATCATTCGATATGTATTTCTAAAGCCGGGGAGAAATAAAGATATAAGAACATGTTCTTAAACACAGAGCCGTAACATGCAAGAAAAGCAATCTAACACCAACTCTGAAGTGAGAAACATTAAAATAAATAAATTGAAGTATAACTTACAAACATAAAAAGCATAGACCATAAGTGTAAACAGCCTGATTAAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCGCGATCTAGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGATTACAGGCATGTACCACCACACCCAGCTAATTTTTCTATTTTTAGTACAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGACCTACCAAAGTGCTGGGATTACACGCGTGAGCGACTGCACCCGGCCAGAGAATTTTTTTATTAGGAAGAAAGAGACTAAACTTTTAACAGTGGTCAGCACTTTTTATATACACTTAGGGGAAAATGTTTTTTACCCTTTTTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGTGCGATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCTGAGAGCCTCTCTTCCACTAGTCTTCCTGTCAAAGCTTTCTCAGAGCAGTAAAAGAACCCACTCAAACTTTCATCTCAGGCTCTAGCTAAAATTTCTGTTCTACTGAGAGGATGCTCCTAAATAGCCAGAATTCATTTTATATTAAAAAAAAATCTGGACGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTGTGGATCCCTGAGCTATCCATTAAGTTTCTTCTCTACTCTTTAAGTATTTCCTAGTAGCGAATTCCCACCTTGTTTTTAAAGAATAGTCTGAAAAGGACAATTTTATTTTAACGCAAGGTTCTTTCAGATA
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Task1_train_12885
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This variant affects gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) located on Chromosome 9. Evaluate its biological effect and specify any disease association.
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Pathogenic; GNE myopathy
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GTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCTGAGAGCCTCTCTTCCACTAGTCTTCCTGTCAAAGCTTTCTCAGAGCAGTAAAAGAACCCACTCAAACTTTCATCTCAGGCTCTAGCTAAAATTTCTGTTCTACTGAGAGGATGCTCCTAAATAGCCAGAATTCATTTTATATTAAAAAAAAATCTGGACGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTGTGGATCCCTGAGCTATCCATTAAGTTTCTTCTCTACTCTTTAAGTATTTCCTAGTAGCGAATTCCCACCTTGTTTTTAAAGAATAGTCTGAAAAGGACAATTTTATTTTAACGCAAGGTTCTTTCAGATACAGTATTGTATTTGTGATCCTCTTTGGAGACTGCATTAATATATTCATGCCACAAGGGTGCACTAAATGACTTTTTATTACATACATCAAGATGTATGTAATACGCCTTGTTCTCTCAGATTATTCAACCTTTGCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACGGGCATGCGCCACCACAACTGGCTAATTTTTTTTTTTTTTGTATTTTTCGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCCACCCACCTCAGCCCCCCAGAGTGCTGGGATTATAGGCATGTGCCACCGTGCCCGGCCCAACTTTCACTTTTTAAATGTAGCCTGTGATTAATAACAAACCTAATGTCAGCAAAATAAATGTCAATGGTGACAGTAATGTAACTCTCTACTTTACCTTGCAGATTAGATTTTTAAAATCTTGTTCCATATCTACTACTTTATATGCTGTTGGCCTATAAACCAGTTTTAAAGATTGCCATTACAGCTCACAAAACAGTTTACATGGAATCACATTATTATACTCATACAATATGTATTTATAAGTGGCATTTGTTTGAATGTAACAACTAATAACAAACAGTAATATTATTTATAGCTACCATTTATCAATCATCTACTAAGCGGCATCATTGTGATGGATGCTCTATATCATGATCTCCATTCCTCACAATAATTTACAATATAAGTTTTCACTACATTATATAATGAGGAAACTGAGGCTCAGAGATGCTAAGTGACTACTCTAAGGCCACATAAAAACTAAGCAGCAGAACAGGAATTTGAAGCTGGGCCCATATGGCTACAAAACCCAAGCTCCTTCTAGCACACTGTTGCAATGAAGAATAAGAAAATGCTTTCATCTTACCCATAGTCATCTATCAGGTGAGAGCCAAGTACCACAACATCAAGTTCAAAGAACTCAGGTTCGGTTTTAATGCCAAACATGATCGGGGCAAGTTTAGAATAATCTGCACGGTTACAAGTAGCAACACAAACCCGCAGCTTTCGGTTATTTCCATTCTTCTCCATGATTTGCTTGTTTCGTTTTGAGAGGTTCTTAAAATAGAGTTCCTGAAATTGCCAAAATAAAAACTTTATAATCAGAATAACTCCTAGATATAACTAAACTTTAAACTTCTCTAAATCAGAAATAGAAATTTTCAGTTTCAAGTCCTTAACCACTATTTAGTACAGTGATTCTTAATCTTTTTTTGCACCTCCACTTATGTGTGACTCTCCCATTGGTATATCCAGAGTTAAGAAACTCCAAGGCTGGGAGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACGTGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGTACCTGTAGTCCCAGCTACTCGGGAGGTTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACCACCACACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGAAGAAGAAACTCCAGCAAACTAACTGTAACACCACCCCATCCTCTCACACTCAAGAAAACACACTGGAATGCCATTAAGAAGGAGTGATATAAATCAGCTCTTGTTTAAAAGGTGAGGAAATATCAGCTCTTTATTATTAAAAATTACTTGCCATAACTCACAGATGAGCCCAACATAGTAGGTTGTTGCAAAATCAGTTGTTGAGAACCACTGATCTAGTTCAACTCCATCACTTTATAGAAAGGGAAACACAGGTCTTGAGAGGGAAAATTACTGCCCCAACATTCCAGATCATGTCTCATAAGGAACACAGGCTATTCACTCTCACACTATACACTTCCTAAATACAAGGTATTGTGATTAATGCTGGGCAGGAGAAAGATGAGTAAGATAAAAACCTGACCTTCAAGCCCTCATTAGTACCTACACACCAGTGCCAACAAAACTGACAACTCCAAATGCCTATCAGATATCTCCTGCTGTATGTCCTATAAACACCTTAAAGTCAGTGTCCCAAACTGAACTCATTTTCTTTTCGGAAGCTGTTCCTCCTCAATTGTTCTCTGAGTTATGCAATTTCATTCATCCAAATGCCTTCAAATCCTTGTCTTTTCTGTTCTTCACCCCATATCTCCAAAATGCTGTCAATTCCACCCCCTAAATATCTTTCAAATCTATCTCCTCCTCTTCATCCATACAAGGACTTCCCCTAGTCCAGTCCCTCATTTTAGGTCTGGACGATCTTAACAGCTGTCAAGTGGTTTGCCTGTCTCCTATAAACTTTCTTACTTATTTATTTAGAGACAAAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGCACGAGCTTGGCTCACTACTACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAAGAGCCATTGCGCCCGGCCTCCTACAAACTTTCAAAGTGATCTTCCTTTCCACCATCTCTTCCCTGCCTAAAATTACCCTTCTCTGTGCCAAAGTGCCAGCCATACCAAACTGCCTCCAGTTCAACTAGTGAATCTCCGTATATCTATACCTTTATAGATGCCACCTACTTTTTCCTAAAACTTCCTTTCCTCCTTGCTGGTCTTCTACTCATCCTTCAAAACTCCATCTAAGTGTCATCCTTTCTGGAAAGGCTTCACACAAACCTCAGGTCCTCCTCCCCCACGTTTCTCAGTTGCTGCCTCGCTCTGAGCGTTATGGCCCTCCCATTCACAGATATACTGTTGCTCAGCTCCACTGCTCG
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GTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCTGAGAGCCTCTCTTCCACTAGTCTTCCTGTCAAAGCTTTCTCAGAGCAGTAAAAGAACCCACTCAAACTTTCATCTCAGGCTCTAGCTAAAATTTCTGTTCTACTGAGAGGATGCTCCTAAATAGCCAGAATTCATTTTATATTAAAAAAAAATCTGGACGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTGTGGATCCCTGAGCTATCCATTAAGTTTCTTCTCTACTCTTTAAGTATTTCCTAGTAGCGAATTCCCACCTTGTTTTTAAAGAATAGTCTGAAAAGGACAATTTTATTTTAACGCAAGGTTCTTTCAGATACAGTATTGTATTTGTGATCCTCTTTGGAGACTGCATTAATATATTCATGCCACAAGGGTGCACTAAATGACTTTTTATTACATACATCAAGATGTATGTAATACGCCTTGTTCTCTCAGATTATTCAACCTTTGCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACGGGCATGCGCCACCACAACTGGCTAATTTTTTTTTTTTTTGTATTTTTCGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCCACCCACCTCAGCCCCCCAGAGTGCTGGGATTATAGGCATGTGCCACCGTGCCCGGCCCAACTTTCACTTTTTAAATGTAGCCTGTGATTAATAACAAACCTAATGTCAGCAAAATAAATGTCAATGGTGACAGTAATGTAACTCTCTACTTTACCTTGCAGATTAGATTTTTAAAATCTTGTTCCATATCTACTACTTTATATGCTGTTGGCCTATAAACCAGTTTTAAAGATTGCCATTACAGCTCACAAAACAGTTTACATGGAATCACATTATTATACTCATACAATATGTATTTATAAGTGGCATTTGTTTGAATGTAACAACTAATAACAAACAGTAATATTATTTATAGCTACCATTTATCAATCATCTACTAAGCGGCATCATTGTGATGGATGCTCTATATCATGATCTCCATTCCTCACAATAATTTACAATATAAGTTTTCACTACATTATATAATGAGGAAACTGAGGCTCAGAGATGCTAAGTGACTACTCTAAGGCCACATAAAAACTAAGCAGCAGAACAGGAATTTGAAGCTGGGCCCATATGGCTACAAAACCCAAGCTCCTTCTAGCACACTGTTGCAATGAAGAATAAGAAAATGCTTTCATCTTACCCATAGTCATCTATCAGGTGAGAGCCAAGTACCACAACATCAAGTTCAAAGAACTCAGGTTCGGTTTTAATGCCAAACATGATCGAGGCAAGTTTAGAATAATCTGCACGGTTACAAGTAGCAACACAAACCCGCAGCTTTCGGTTATTTCCATTCTTCTCCATGATTTGCTTGTTTCGTTTTGAGAGGTTCTTAAAATAGAGTTCCTGAAATTGCCAAAATAAAAACTTTATAATCAGAATAACTCCTAGATATAACTAAACTTTAAACTTCTCTAAATCAGAAATAGAAATTTTCAGTTTCAAGTCCTTAACCACTATTTAGTACAGTGATTCTTAATCTTTTTTTGCACCTCCACTTATGTGTGACTCTCCCATTGGTATATCCAGAGTTAAGAAACTCCAAGGCTGGGAGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACGTGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGTACCTGTAGTCCCAGCTACTCGGGAGGTTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACCACCACACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGAAGAAGAAACTCCAGCAAACTAACTGTAACACCACCCCATCCTCTCACACTCAAGAAAACACACTGGAATGCCATTAAGAAGGAGTGATATAAATCAGCTCTTGTTTAAAAGGTGAGGAAATATCAGCTCTTTATTATTAAAAATTACTTGCCATAACTCACAGATGAGCCCAACATAGTAGGTTGTTGCAAAATCAGTTGTTGAGAACCACTGATCTAGTTCAACTCCATCACTTTATAGAAAGGGAAACACAGGTCTTGAGAGGGAAAATTACTGCCCCAACATTCCAGATCATGTCTCATAAGGAACACAGGCTATTCACTCTCACACTATACACTTCCTAAATACAAGGTATTGTGATTAATGCTGGGCAGGAGAAAGATGAGTAAGATAAAAACCTGACCTTCAAGCCCTCATTAGTACCTACACACCAGTGCCAACAAAACTGACAACTCCAAATGCCTATCAGATATCTCCTGCTGTATGTCCTATAAACACCTTAAAGTCAGTGTCCCAAACTGAACTCATTTTCTTTTCGGAAGCTGTTCCTCCTCAATTGTTCTCTGAGTTATGCAATTTCATTCATCCAAATGCCTTCAAATCCTTGTCTTTTCTGTTCTTCACCCCATATCTCCAAAATGCTGTCAATTCCACCCCCTAAATATCTTTCAAATCTATCTCCTCCTCTTCATCCATACAAGGACTTCCCCTAGTCCAGTCCCTCATTTTAGGTCTGGACGATCTTAACAGCTGTCAAGTGGTTTGCCTGTCTCCTATAAACTTTCTTACTTATTTATTTAGAGACAAAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGCACGAGCTTGGCTCACTACTACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAAGAGCCATTGCGCCCGGCCTCCTACAAACTTTCAAAGTGATCTTCCTTTCCACCATCTCTTCCCTGCCTAAAATTACCCTTCTCTGTGCCAAAGTGCCAGCCATACCAAACTGCCTCCAGTTCAACTAGTGAATCTCCGTATATCTATACCTTTATAGATGCCACCTACTTTTTCCTAAAACTTCCTTTCCTCCTTGCTGGTCTTCTACTCATCCTTCAAAACTCCATCTAAGTGTCATCCTTTCTGGAAAGGCTTCACACAAACCTCAGGTCCTCCTCCCCCACGTTTCTCAGTTGCTGCCTCGCTCTGAGCGTTATGGCCCTCCCATTCACAGATATACTGTTGCTCAGCTCCACTGCTCG
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Task1_train_12886
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Here’s a variant in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Sialuria
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GTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCTGAGAGCCTCTCTTCCACTAGTCTTCCTGTCAAAGCTTTCTCAGAGCAGTAAAAGAACCCACTCAAACTTTCATCTCAGGCTCTAGCTAAAATTTCTGTTCTACTGAGAGGATGCTCCTAAATAGCCAGAATTCATTTTATATTAAAAAAAAATCTGGACGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTGTGGATCCCTGAGCTATCCATTAAGTTTCTTCTCTACTCTTTAAGTATTTCCTAGTAGCGAATTCCCACCTTGTTTTTAAAGAATAGTCTGAAAAGGACAATTTTATTTTAACGCAAGGTTCTTTCAGATACAGTATTGTATTTGTGATCCTCTTTGGAGACTGCATTAATATATTCATGCCACAAGGGTGCACTAAATGACTTTTTATTACATACATCAAGATGTATGTAATACGCCTTGTTCTCTCAGATTATTCAACCTTTGCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACGGGCATGCGCCACCACAACTGGCTAATTTTTTTTTTTTTTGTATTTTTCGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCCACCCACCTCAGCCCCCCAGAGTGCTGGGATTATAGGCATGTGCCACCGTGCCCGGCCCAACTTTCACTTTTTAAATGTAGCCTGTGATTAATAACAAACCTAATGTCAGCAAAATAAATGTCAATGGTGACAGTAATGTAACTCTCTACTTTACCTTGCAGATTAGATTTTTAAAATCTTGTTCCATATCTACTACTTTATATGCTGTTGGCCTATAAACCAGTTTTAAAGATTGCCATTACAGCTCACAAAACAGTTTACATGGAATCACATTATTATACTCATACAATATGTATTTATAAGTGGCATTTGTTTGAATGTAACAACTAATAACAAACAGTAATATTATTTATAGCTACCATTTATCAATCATCTACTAAGCGGCATCATTGTGATGGATGCTCTATATCATGATCTCCATTCCTCACAATAATTTACAATATAAGTTTTCACTACATTATATAATGAGGAAACTGAGGCTCAGAGATGCTAAGTGACTACTCTAAGGCCACATAAAAACTAAGCAGCAGAACAGGAATTTGAAGCTGGGCCCATATGGCTACAAAACCCAAGCTCCTTCTAGCACACTGTTGCAATGAAGAATAAGAAAATGCTTTCATCTTACCCATAGTCATCTATCAGGTGAGAGCCAAGTACCACAACATCAAGTTCAAAGAACTCAGGTTCGGTTTTAATGCCAAACATGATCGGGGCAAGTTTAGAATAATCTGCACGGTTACAAGTAGCAACACAAACCCGCAGCTTTCGGTTATTTCCATTCTTCTCCATGATTTGCTTGTTTCGTTTTGAGAGGTTCTTAAAATAGAGTTCCTGAAATTGCCAAAATAAAAACTTTATAATCAGAATAACTCCTAGATATAACTAAACTTTAAACTTCTCTAAATCAGAAATAGAAATTTTCAGTTTCAAGTCCTTAACCACTATTTAGTACAGTGATTCTTAATCTTTTTTTGCACCTCCACTTATGTGTGACTCTCCCATTGGTATATCCAGAGTTAAGAAACTCCAAGGCTGGGAGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACGTGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGTACCTGTAGTCCCAGCTACTCGGGAGGTTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACCACCACACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGAAGAAGAAACTCCAGCAAACTAACTGTAACACCACCCCATCCTCTCACACTCAAGAAAACACACTGGAATGCCATTAAGAAGGAGTGATATAAATCAGCTCTTGTTTAAAAGGTGAGGAAATATCAGCTCTTTATTATTAAAAATTACTTGCCATAACTCACAGATGAGCCCAACATAGTAGGTTGTTGCAAAATCAGTTGTTGAGAACCACTGATCTAGTTCAACTCCATCACTTTATAGAAAGGGAAACACAGGTCTTGAGAGGGAAAATTACTGCCCCAACATTCCAGATCATGTCTCATAAGGAACACAGGCTATTCACTCTCACACTATACACTTCCTAAATACAAGGTATTGTGATTAATGCTGGGCAGGAGAAAGATGAGTAAGATAAAAACCTGACCTTCAAGCCCTCATTAGTACCTACACACCAGTGCCAACAAAACTGACAACTCCAAATGCCTATCAGATATCTCCTGCTGTATGTCCTATAAACACCTTAAAGTCAGTGTCCCAAACTGAACTCATTTTCTTTTCGGAAGCTGTTCCTCCTCAATTGTTCTCTGAGTTATGCAATTTCATTCATCCAAATGCCTTCAAATCCTTGTCTTTTCTGTTCTTCACCCCATATCTCCAAAATGCTGTCAATTCCACCCCCTAAATATCTTTCAAATCTATCTCCTCCTCTTCATCCATACAAGGACTTCCCCTAGTCCAGTCCCTCATTTTAGGTCTGGACGATCTTAACAGCTGTCAAGTGGTTTGCCTGTCTCCTATAAACTTTCTTACTTATTTATTTAGAGACAAAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGCACGAGCTTGGCTCACTACTACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAAGAGCCATTGCGCCCGGCCTCCTACAAACTTTCAAAGTGATCTTCCTTTCCACCATCTCTTCCCTGCCTAAAATTACCCTTCTCTGTGCCAAAGTGCCAGCCATACCAAACTGCCTCCAGTTCAACTAGTGAATCTCCGTATATCTATACCTTTATAGATGCCACCTACTTTTTCCTAAAACTTCCTTTCCTCCTTGCTGGTCTTCTACTCATCCTTCAAAACTCCATCTAAGTGTCATCCTTTCTGGAAAGGCTTCACACAAACCTCAGGTCCTCCTCCCCCACGTTTCTCAGTTGCTGCCTCGCTCTGAGCGTTATGGCCCTCCCATTCACAGATATACTGTTGCTCAGCTCCACTGCTCG
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GTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCTGAGAGCCTCTCTTCCACTAGTCTTCCTGTCAAAGCTTTCTCAGAGCAGTAAAAGAACCCACTCAAACTTTCATCTCAGGCTCTAGCTAAAATTTCTGTTCTACTGAGAGGATGCTCCTAAATAGCCAGAATTCATTTTATATTAAAAAAAAATCTGGACGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTGTGGATCCCTGAGCTATCCATTAAGTTTCTTCTCTACTCTTTAAGTATTTCCTAGTAGCGAATTCCCACCTTGTTTTTAAAGAATAGTCTGAAAAGGACAATTTTATTTTAACGCAAGGTTCTTTCAGATACAGTATTGTATTTGTGATCCTCTTTGGAGACTGCATTAATATATTCATGCCACAAGGGTGCACTAAATGACTTTTTATTACATACATCAAGATGTATGTAATACGCCTTGTTCTCTCAGATTATTCAACCTTTGCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACGGGCATGCGCCACCACAACTGGCTAATTTTTTTTTTTTTTGTATTTTTCGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCCACCCACCTCAGCCCCCCAGAGTGCTGGGATTATAGGCATGTGCCACCGTGCCCGGCCCAACTTTCACTTTTTAAATGTAGCCTGTGATTAATAACAAACCTAATGTCAGCAAAATAAATGTCAATGGTGACAGTAATGTAACTCTCTACTTTACCTTGCAGATTAGATTTTTAAAATCTTGTTCCATATCTACTACTTTATATGCTGTTGGCCTATAAACCAGTTTTAAAGATTGCCATTACAGCTCACAAAACAGTTTACATGGAATCACATTATTATACTCATACAATATGTATTTATAAGTGGCATTTGTTTGAATGTAACAACTAATAACAAACAGTAATATTATTTATAGCTACCATTTATCAATCATCTACTAAGCGGCATCATTGTGATGGATGCTCTATATCATGATCTCCATTCCTCACAATAATTTACAATATAAGTTTTCACTACATTATATAATGAGGAAACTGAGGCTCAGAGATGCTAAGTGACTACTCTAAGGCCACATAAAAACTAAGCAGCAGAACAGGAATTTGAAGCTGGGCCCATATGGCTACAAAACCCAAGCTCCTTCTAGCACACTGTTGCAATGAAGAATAAGAAAATGCTTTCATCTTACCCATAGTCATCTATCAGGTGAGAGCCAAGTACCACAACATCAAGTTCAAAGAACTCAGGTTCGGTTTTAATGCCAAACATGATCGAGGCAAGTTTAGAATAATCTGCACGGTTACAAGTAGCAACACAAACCCGCAGCTTTCGGTTATTTCCATTCTTCTCCATGATTTGCTTGTTTCGTTTTGAGAGGTTCTTAAAATAGAGTTCCTGAAATTGCCAAAATAAAAACTTTATAATCAGAATAACTCCTAGATATAACTAAACTTTAAACTTCTCTAAATCAGAAATAGAAATTTTCAGTTTCAAGTCCTTAACCACTATTTAGTACAGTGATTCTTAATCTTTTTTTGCACCTCCACTTATGTGTGACTCTCCCATTGGTATATCCAGAGTTAAGAAACTCCAAGGCTGGGAGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACGTGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGTACCTGTAGTCCCAGCTACTCGGGAGGTTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACCACCACACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGAAGAAGAAACTCCAGCAAACTAACTGTAACACCACCCCATCCTCTCACACTCAAGAAAACACACTGGAATGCCATTAAGAAGGAGTGATATAAATCAGCTCTTGTTTAAAAGGTGAGGAAATATCAGCTCTTTATTATTAAAAATTACTTGCCATAACTCACAGATGAGCCCAACATAGTAGGTTGTTGCAAAATCAGTTGTTGAGAACCACTGATCTAGTTCAACTCCATCACTTTATAGAAAGGGAAACACAGGTCTTGAGAGGGAAAATTACTGCCCCAACATTCCAGATCATGTCTCATAAGGAACACAGGCTATTCACTCTCACACTATACACTTCCTAAATACAAGGTATTGTGATTAATGCTGGGCAGGAGAAAGATGAGTAAGATAAAAACCTGACCTTCAAGCCCTCATTAGTACCTACACACCAGTGCCAACAAAACTGACAACTCCAAATGCCTATCAGATATCTCCTGCTGTATGTCCTATAAACACCTTAAAGTCAGTGTCCCAAACTGAACTCATTTTCTTTTCGGAAGCTGTTCCTCCTCAATTGTTCTCTGAGTTATGCAATTTCATTCATCCAAATGCCTTCAAATCCTTGTCTTTTCTGTTCTTCACCCCATATCTCCAAAATGCTGTCAATTCCACCCCCTAAATATCTTTCAAATCTATCTCCTCCTCTTCATCCATACAAGGACTTCCCCTAGTCCAGTCCCTCATTTTAGGTCTGGACGATCTTAACAGCTGTCAAGTGGTTTGCCTGTCTCCTATAAACTTTCTTACTTATTTATTTAGAGACAAAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGCACGAGCTTGGCTCACTACTACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAAGAGCCATTGCGCCCGGCCTCCTACAAACTTTCAAAGTGATCTTCCTTTCCACCATCTCTTCCCTGCCTAAAATTACCCTTCTCTGTGCCAAAGTGCCAGCCATACCAAACTGCCTCCAGTTCAACTAGTGAATCTCCGTATATCTATACCTTTATAGATGCCACCTACTTTTTCCTAAAACTTCCTTTCCTCCTTGCTGGTCTTCTACTCATCCTTCAAAACTCCATCTAAGTGTCATCCTTTCTGGAAAGGCTTCACACAAACCTCAGGTCCTCCTCCCCCACGTTTCTCAGTTGCTGCCTCGCTCTGAGCGTTATGGCCCTCCCATTCACAGATATACTGTTGCTCAGCTCCACTGCTCG
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Task1_train_12887
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A variant on Chromosome 9 in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; GNE myopathy
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TGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCTGAGAGCCTCTCTTCCACTAGTCTTCCTGTCAAAGCTTTCTCAGAGCAGTAAAAGAACCCACTCAAACTTTCATCTCAGGCTCTAGCTAAAATTTCTGTTCTACTGAGAGGATGCTCCTAAATAGCCAGAATTCATTTTATATTAAAAAAAAATCTGGACGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTGTGGATCCCTGAGCTATCCATTAAGTTTCTTCTCTACTCTTTAAGTATTTCCTAGTAGCGAATTCCCACCTTGTTTTTAAAGAATAGTCTGAAAAGGACAATTTTATTTTAACGCAAGGTTCTTTCAGATACAGTATTGTATTTGTGATCCTCTTTGGAGACTGCATTAATATATTCATGCCACAAGGGTGCACTAAATGACTTTTTATTACATACATCAAGATGTATGTAATACGCCTTGTTCTCTCAGATTATTCAACCTTTGCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACGGGCATGCGCCACCACAACTGGCTAATTTTTTTTTTTTTTGTATTTTTCGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCCACCCACCTCAGCCCCCCAGAGTGCTGGGATTATAGGCATGTGCCACCGTGCCCGGCCCAACTTTCACTTTTTAAATGTAGCCTGTGATTAATAACAAACCTAATGTCAGCAAAATAAATGTCAATGGTGACAGTAATGTAACTCTCTACTTTACCTTGCAGATTAGATTTTTAAAATCTTGTTCCATATCTACTACTTTATATGCTGTTGGCCTATAAACCAGTTTTAAAGATTGCCATTACAGCTCACAAAACAGTTTACATGGAATCACATTATTATACTCATACAATATGTATTTATAAGTGGCATTTGTTTGAATGTAACAACTAATAACAAACAGTAATATTATTTATAGCTACCATTTATCAATCATCTACTAAGCGGCATCATTGTGATGGATGCTCTATATCATGATCTCCATTCCTCACAATAATTTACAATATAAGTTTTCACTACATTATATAATGAGGAAACTGAGGCTCAGAGATGCTAAGTGACTACTCTAAGGCCACATAAAAACTAAGCAGCAGAACAGGAATTTGAAGCTGGGCCCATATGGCTACAAAACCCAAGCTCCTTCTAGCACACTGTTGCAATGAAGAATAAGAAAATGCTTTCATCTTACCCATAGTCATCTATCAGGTGAGAGCCAAGTACCACAACATCAAGTTCAAAGAACTCAGGTTCGGTTTTAATGCCAAACATGATCGGGGCAAGTTTAGAATAATCTGCACGGTTACAAGTAGCAACACAAACCCGCAGCTTTCGGTTATTTCCATTCTTCTCCATGATTTGCTTGTTTCGTTTTGAGAGGTTCTTAAAATAGAGTTCCTGAAATTGCCAAAATAAAAACTTTATAATCAGAATAACTCCTAGATATAACTAAACTTTAAACTTCTCTAAATCAGAAATAGAAATTTTCAGTTTCAAGTCCTTAACCACTATTTAGTACAGTGATTCTTAATCTTTTTTTGCACCTCCACTTATGTGTGACTCTCCCATTGGTATATCCAGAGTTAAGAAACTCCAAGGCTGGGAGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACGTGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGTACCTGTAGTCCCAGCTACTCGGGAGGTTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACCACCACACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGAAGAAGAAACTCCAGCAAACTAACTGTAACACCACCCCATCCTCTCACACTCAAGAAAACACACTGGAATGCCATTAAGAAGGAGTGATATAAATCAGCTCTTGTTTAAAAGGTGAGGAAATATCAGCTCTTTATTATTAAAAATTACTTGCCATAACTCACAGATGAGCCCAACATAGTAGGTTGTTGCAAAATCAGTTGTTGAGAACCACTGATCTAGTTCAACTCCATCACTTTATAGAAAGGGAAACACAGGTCTTGAGAGGGAAAATTACTGCCCCAACATTCCAGATCATGTCTCATAAGGAACACAGGCTATTCACTCTCACACTATACACTTCCTAAATACAAGGTATTGTGATTAATGCTGGGCAGGAGAAAGATGAGTAAGATAAAAACCTGACCTTCAAGCCCTCATTAGTACCTACACACCAGTGCCAACAAAACTGACAACTCCAAATGCCTATCAGATATCTCCTGCTGTATGTCCTATAAACACCTTAAAGTCAGTGTCCCAAACTGAACTCATTTTCTTTTCGGAAGCTGTTCCTCCTCAATTGTTCTCTGAGTTATGCAATTTCATTCATCCAAATGCCTTCAAATCCTTGTCTTTTCTGTTCTTCACCCCATATCTCCAAAATGCTGTCAATTCCACCCCCTAAATATCTTTCAAATCTATCTCCTCCTCTTCATCCATACAAGGACTTCCCCTAGTCCAGTCCCTCATTTTAGGTCTGGACGATCTTAACAGCTGTCAAGTGGTTTGCCTGTCTCCTATAAACTTTCTTACTTATTTATTTAGAGACAAAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGCACGAGCTTGGCTCACTACTACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAAGAGCCATTGCGCCCGGCCTCCTACAAACTTTCAAAGTGATCTTCCTTTCCACCATCTCTTCCCTGCCTAAAATTACCCTTCTCTGTGCCAAAGTGCCAGCCATACCAAACTGCCTCCAGTTCAACTAGTGAATCTCCGTATATCTATACCTTTATAGATGCCACCTACTTTTTCCTAAAACTTCCTTTCCTCCTTGCTGGTCTTCTACTCATCCTTCAAAACTCCATCTAAGTGTCATCCTTTCTGGAAAGGCTTCACACAAACCTCAGGTCCTCCTCCCCCACGTTTCTCAGTTGCTGCCTCGCTCTGAGCGTTATGGCCCTCCCATTCACAGATATACTGTTGCTCAGCTCCACTGCTCGCTCATCCCTCCCTGCCATGCTATACCCTCCATTCAAAAAGT
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TGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCTGAGAGCCTCTCTTCCACTAGTCTTCCTGTCAAAGCTTTCTCAGAGCAGTAAAAGAACCCACTCAAACTTTCATCTCAGGCTCTAGCTAAAATTTCTGTTCTACTGAGAGGATGCTCCTAAATAGCCAGAATTCATTTTATATTAAAAAAAAATCTGGACGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTGTGGATCCCTGAGCTATCCATTAAGTTTCTTCTCTACTCTTTAAGTATTTCCTAGTAGCGAATTCCCACCTTGTTTTTAAAGAATAGTCTGAAAAGGACAATTTTATTTTAACGCAAGGTTCTTTCAGATACAGTATTGTATTTGTGATCCTCTTTGGAGACTGCATTAATATATTCATGCCACAAGGGTGCACTAAATGACTTTTTATTACATACATCAAGATGTATGTAATACGCCTTGTTCTCTCAGATTATTCAACCTTTGCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACGGGCATGCGCCACCACAACTGGCTAATTTTTTTTTTTTTTGTATTTTTCGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCCACCCACCTCAGCCCCCCAGAGTGCTGGGATTATAGGCATGTGCCACCGTGCCCGGCCCAACTTTCACTTTTTAAATGTAGCCTGTGATTAATAACAAACCTAATGTCAGCAAAATAAATGTCAATGGTGACAGTAATGTAACTCTCTACTTTACCTTGCAGATTAGATTTTTAAAATCTTGTTCCATATCTACTACTTTATATGCTGTTGGCCTATAAACCAGTTTTAAAGATTGCCATTACAGCTCACAAAACAGTTTACATGGAATCACATTATTATACTCATACAATATGTATTTATAAGTGGCATTTGTTTGAATGTAACAACTAATAACAAACAGTAATATTATTTATAGCTACCATTTATCAATCATCTACTAAGCGGCATCATTGTGATGGATGCTCTATATCATGATCTCCATTCCTCACAATAATTTACAATATAAGTTTTCACTACATTATATAATGAGGAAACTGAGGCTCAGAGATGCTAAGTGACTACTCTAAGGCCACATAAAAACTAAGCAGCAGAACAGGAATTTGAAGCTGGGCCCATATGGCTACAAAACCCAAGCTCCTTCTAGCACACTGTTGCAATGAAGAATAAGAAAATGCTTTCATCTTACCCATAGTCATCTATCAGGTGAGAGCCAAGTACCACAACATCAAGTTCAAAGAACTCAGGTTCGGTTTTAATGCCAAACATGATCGGGGCAAGTTTAGAATAATCTGCACGGTTACAAGTAGCAACAGAAACCCGCAGCTTTCGGTTATTTCCATTCTTCTCCATGATTTGCTTGTTTCGTTTTGAGAGGTTCTTAAAATAGAGTTCCTGAAATTGCCAAAATAAAAACTTTATAATCAGAATAACTCCTAGATATAACTAAACTTTAAACTTCTCTAAATCAGAAATAGAAATTTTCAGTTTCAAGTCCTTAACCACTATTTAGTACAGTGATTCTTAATCTTTTTTTGCACCTCCACTTATGTGTGACTCTCCCATTGGTATATCCAGAGTTAAGAAACTCCAAGGCTGGGAGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACGTGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGTACCTGTAGTCCCAGCTACTCGGGAGGTTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACCACCACACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGAAGAAGAAACTCCAGCAAACTAACTGTAACACCACCCCATCCTCTCACACTCAAGAAAACACACTGGAATGCCATTAAGAAGGAGTGATATAAATCAGCTCTTGTTTAAAAGGTGAGGAAATATCAGCTCTTTATTATTAAAAATTACTTGCCATAACTCACAGATGAGCCCAACATAGTAGGTTGTTGCAAAATCAGTTGTTGAGAACCACTGATCTAGTTCAACTCCATCACTTTATAGAAAGGGAAACACAGGTCTTGAGAGGGAAAATTACTGCCCCAACATTCCAGATCATGTCTCATAAGGAACACAGGCTATTCACTCTCACACTATACACTTCCTAAATACAAGGTATTGTGATTAATGCTGGGCAGGAGAAAGATGAGTAAGATAAAAACCTGACCTTCAAGCCCTCATTAGTACCTACACACCAGTGCCAACAAAACTGACAACTCCAAATGCCTATCAGATATCTCCTGCTGTATGTCCTATAAACACCTTAAAGTCAGTGTCCCAAACTGAACTCATTTTCTTTTCGGAAGCTGTTCCTCCTCAATTGTTCTCTGAGTTATGCAATTTCATTCATCCAAATGCCTTCAAATCCTTGTCTTTTCTGTTCTTCACCCCATATCTCCAAAATGCTGTCAATTCCACCCCCTAAATATCTTTCAAATCTATCTCCTCCTCTTCATCCATACAAGGACTTCCCCTAGTCCAGTCCCTCATTTTAGGTCTGGACGATCTTAACAGCTGTCAAGTGGTTTGCCTGTCTCCTATAAACTTTCTTACTTATTTATTTAGAGACAAAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGCACGAGCTTGGCTCACTACTACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAAGAGCCATTGCGCCCGGCCTCCTACAAACTTTCAAAGTGATCTTCCTTTCCACCATCTCTTCCCTGCCTAAAATTACCCTTCTCTGTGCCAAAGTGCCAGCCATACCAAACTGCCTCCAGTTCAACTAGTGAATCTCCGTATATCTATACCTTTATAGATGCCACCTACTTTTTCCTAAAACTTCCTTTCCTCCTTGCTGGTCTTCTACTCATCCTTCAAAACTCCATCTAAGTGTCATCCTTTCTGGAAAGGCTTCACACAAACCTCAGGTCCTCCTCCCCCACGTTTCTCAGTTGCTGCCTCGCTCTGAGCGTTATGGCCCTCCCATTCACAGATATACTGTTGCTCAGCTCCACTGCTCGCTCATCCCTCCCTGCCATGCTATACCCTCCATTCAAAAAGT
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Task1_train_12888
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This is a variant in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), located on Chromosome 9. Is this mutation a likely cause of disease or not?
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Pathogenic; Sialuria
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TGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCTGAGAGCCTCTCTTCCACTAGTCTTCCTGTCAAAGCTTTCTCAGAGCAGTAAAAGAACCCACTCAAACTTTCATCTCAGGCTCTAGCTAAAATTTCTGTTCTACTGAGAGGATGCTCCTAAATAGCCAGAATTCATTTTATATTAAAAAAAAATCTGGACGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTGTGGATCCCTGAGCTATCCATTAAGTTTCTTCTCTACTCTTTAAGTATTTCCTAGTAGCGAATTCCCACCTTGTTTTTAAAGAATAGTCTGAAAAGGACAATTTTATTTTAACGCAAGGTTCTTTCAGATACAGTATTGTATTTGTGATCCTCTTTGGAGACTGCATTAATATATTCATGCCACAAGGGTGCACTAAATGACTTTTTATTACATACATCAAGATGTATGTAATACGCCTTGTTCTCTCAGATTATTCAACCTTTGCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACGGGCATGCGCCACCACAACTGGCTAATTTTTTTTTTTTTTGTATTTTTCGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCCACCCACCTCAGCCCCCCAGAGTGCTGGGATTATAGGCATGTGCCACCGTGCCCGGCCCAACTTTCACTTTTTAAATGTAGCCTGTGATTAATAACAAACCTAATGTCAGCAAAATAAATGTCAATGGTGACAGTAATGTAACTCTCTACTTTACCTTGCAGATTAGATTTTTAAAATCTTGTTCCATATCTACTACTTTATATGCTGTTGGCCTATAAACCAGTTTTAAAGATTGCCATTACAGCTCACAAAACAGTTTACATGGAATCACATTATTATACTCATACAATATGTATTTATAAGTGGCATTTGTTTGAATGTAACAACTAATAACAAACAGTAATATTATTTATAGCTACCATTTATCAATCATCTACTAAGCGGCATCATTGTGATGGATGCTCTATATCATGATCTCCATTCCTCACAATAATTTACAATATAAGTTTTCACTACATTATATAATGAGGAAACTGAGGCTCAGAGATGCTAAGTGACTACTCTAAGGCCACATAAAAACTAAGCAGCAGAACAGGAATTTGAAGCTGGGCCCATATGGCTACAAAACCCAAGCTCCTTCTAGCACACTGTTGCAATGAAGAATAAGAAAATGCTTTCATCTTACCCATAGTCATCTATCAGGTGAGAGCCAAGTACCACAACATCAAGTTCAAAGAACTCAGGTTCGGTTTTAATGCCAAACATGATCGGGGCAAGTTTAGAATAATCTGCACGGTTACAAGTAGCAACACAAACCCGCAGCTTTCGGTTATTTCCATTCTTCTCCATGATTTGCTTGTTTCGTTTTGAGAGGTTCTTAAAATAGAGTTCCTGAAATTGCCAAAATAAAAACTTTATAATCAGAATAACTCCTAGATATAACTAAACTTTAAACTTCTCTAAATCAGAAATAGAAATTTTCAGTTTCAAGTCCTTAACCACTATTTAGTACAGTGATTCTTAATCTTTTTTTGCACCTCCACTTATGTGTGACTCTCCCATTGGTATATCCAGAGTTAAGAAACTCCAAGGCTGGGAGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACGTGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGTACCTGTAGTCCCAGCTACTCGGGAGGTTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACCACCACACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGAAGAAGAAACTCCAGCAAACTAACTGTAACACCACCCCATCCTCTCACACTCAAGAAAACACACTGGAATGCCATTAAGAAGGAGTGATATAAATCAGCTCTTGTTTAAAAGGTGAGGAAATATCAGCTCTTTATTATTAAAAATTACTTGCCATAACTCACAGATGAGCCCAACATAGTAGGTTGTTGCAAAATCAGTTGTTGAGAACCACTGATCTAGTTCAACTCCATCACTTTATAGAAAGGGAAACACAGGTCTTGAGAGGGAAAATTACTGCCCCAACATTCCAGATCATGTCTCATAAGGAACACAGGCTATTCACTCTCACACTATACACTTCCTAAATACAAGGTATTGTGATTAATGCTGGGCAGGAGAAAGATGAGTAAGATAAAAACCTGACCTTCAAGCCCTCATTAGTACCTACACACCAGTGCCAACAAAACTGACAACTCCAAATGCCTATCAGATATCTCCTGCTGTATGTCCTATAAACACCTTAAAGTCAGTGTCCCAAACTGAACTCATTTTCTTTTCGGAAGCTGTTCCTCCTCAATTGTTCTCTGAGTTATGCAATTTCATTCATCCAAATGCCTTCAAATCCTTGTCTTTTCTGTTCTTCACCCCATATCTCCAAAATGCTGTCAATTCCACCCCCTAAATATCTTTCAAATCTATCTCCTCCTCTTCATCCATACAAGGACTTCCCCTAGTCCAGTCCCTCATTTTAGGTCTGGACGATCTTAACAGCTGTCAAGTGGTTTGCCTGTCTCCTATAAACTTTCTTACTTATTTATTTAGAGACAAAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGCACGAGCTTGGCTCACTACTACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAAGAGCCATTGCGCCCGGCCTCCTACAAACTTTCAAAGTGATCTTCCTTTCCACCATCTCTTCCCTGCCTAAAATTACCCTTCTCTGTGCCAAAGTGCCAGCCATACCAAACTGCCTCCAGTTCAACTAGTGAATCTCCGTATATCTATACCTTTATAGATGCCACCTACTTTTTCCTAAAACTTCCTTTCCTCCTTGCTGGTCTTCTACTCATCCTTCAAAACTCCATCTAAGTGTCATCCTTTCTGGAAAGGCTTCACACAAACCTCAGGTCCTCCTCCCCCACGTTTCTCAGTTGCTGCCTCGCTCTGAGCGTTATGGCCCTCCCATTCACAGATATACTGTTGCTCAGCTCCACTGCTCGCTCATCCCTCCCTGCCATGCTATACCCTCCATTCAAAAAGT
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TGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCTGAGAGCCTCTCTTCCACTAGTCTTCCTGTCAAAGCTTTCTCAGAGCAGTAAAAGAACCCACTCAAACTTTCATCTCAGGCTCTAGCTAAAATTTCTGTTCTACTGAGAGGATGCTCCTAAATAGCCAGAATTCATTTTATATTAAAAAAAAATCTGGACGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTGTGGATCCCTGAGCTATCCATTAAGTTTCTTCTCTACTCTTTAAGTATTTCCTAGTAGCGAATTCCCACCTTGTTTTTAAAGAATAGTCTGAAAAGGACAATTTTATTTTAACGCAAGGTTCTTTCAGATACAGTATTGTATTTGTGATCCTCTTTGGAGACTGCATTAATATATTCATGCCACAAGGGTGCACTAAATGACTTTTTATTACATACATCAAGATGTATGTAATACGCCTTGTTCTCTCAGATTATTCAACCTTTGCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACGGGCATGCGCCACCACAACTGGCTAATTTTTTTTTTTTTTGTATTTTTCGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCCACCCACCTCAGCCCCCCAGAGTGCTGGGATTATAGGCATGTGCCACCGTGCCCGGCCCAACTTTCACTTTTTAAATGTAGCCTGTGATTAATAACAAACCTAATGTCAGCAAAATAAATGTCAATGGTGACAGTAATGTAACTCTCTACTTTACCTTGCAGATTAGATTTTTAAAATCTTGTTCCATATCTACTACTTTATATGCTGTTGGCCTATAAACCAGTTTTAAAGATTGCCATTACAGCTCACAAAACAGTTTACATGGAATCACATTATTATACTCATACAATATGTATTTATAAGTGGCATTTGTTTGAATGTAACAACTAATAACAAACAGTAATATTATTTATAGCTACCATTTATCAATCATCTACTAAGCGGCATCATTGTGATGGATGCTCTATATCATGATCTCCATTCCTCACAATAATTTACAATATAAGTTTTCACTACATTATATAATGAGGAAACTGAGGCTCAGAGATGCTAAGTGACTACTCTAAGGCCACATAAAAACTAAGCAGCAGAACAGGAATTTGAAGCTGGGCCCATATGGCTACAAAACCCAAGCTCCTTCTAGCACACTGTTGCAATGAAGAATAAGAAAATGCTTTCATCTTACCCATAGTCATCTATCAGGTGAGAGCCAAGTACCACAACATCAAGTTCAAAGAACTCAGGTTCGGTTTTAATGCCAAACATGATCGGGGCAAGTTTAGAATAATCTGCACGGTTACAAGTAGCAACAGAAACCCGCAGCTTTCGGTTATTTCCATTCTTCTCCATGATTTGCTTGTTTCGTTTTGAGAGGTTCTTAAAATAGAGTTCCTGAAATTGCCAAAATAAAAACTTTATAATCAGAATAACTCCTAGATATAACTAAACTTTAAACTTCTCTAAATCAGAAATAGAAATTTTCAGTTTCAAGTCCTTAACCACTATTTAGTACAGTGATTCTTAATCTTTTTTTGCACCTCCACTTATGTGTGACTCTCCCATTGGTATATCCAGAGTTAAGAAACTCCAAGGCTGGGAGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACGTGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGTACCTGTAGTCCCAGCTACTCGGGAGGTTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACCACCACACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGAAGAAGAAACTCCAGCAAACTAACTGTAACACCACCCCATCCTCTCACACTCAAGAAAACACACTGGAATGCCATTAAGAAGGAGTGATATAAATCAGCTCTTGTTTAAAAGGTGAGGAAATATCAGCTCTTTATTATTAAAAATTACTTGCCATAACTCACAGATGAGCCCAACATAGTAGGTTGTTGCAAAATCAGTTGTTGAGAACCACTGATCTAGTTCAACTCCATCACTTTATAGAAAGGGAAACACAGGTCTTGAGAGGGAAAATTACTGCCCCAACATTCCAGATCATGTCTCATAAGGAACACAGGCTATTCACTCTCACACTATACACTTCCTAAATACAAGGTATTGTGATTAATGCTGGGCAGGAGAAAGATGAGTAAGATAAAAACCTGACCTTCAAGCCCTCATTAGTACCTACACACCAGTGCCAACAAAACTGACAACTCCAAATGCCTATCAGATATCTCCTGCTGTATGTCCTATAAACACCTTAAAGTCAGTGTCCCAAACTGAACTCATTTTCTTTTCGGAAGCTGTTCCTCCTCAATTGTTCTCTGAGTTATGCAATTTCATTCATCCAAATGCCTTCAAATCCTTGTCTTTTCTGTTCTTCACCCCATATCTCCAAAATGCTGTCAATTCCACCCCCTAAATATCTTTCAAATCTATCTCCTCCTCTTCATCCATACAAGGACTTCCCCTAGTCCAGTCCCTCATTTTAGGTCTGGACGATCTTAACAGCTGTCAAGTGGTTTGCCTGTCTCCTATAAACTTTCTTACTTATTTATTTAGAGACAAAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGCACGAGCTTGGCTCACTACTACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAAGAGCCATTGCGCCCGGCCTCCTACAAACTTTCAAAGTGATCTTCCTTTCCACCATCTCTTCCCTGCCTAAAATTACCCTTCTCTGTGCCAAAGTGCCAGCCATACCAAACTGCCTCCAGTTCAACTAGTGAATCTCCGTATATCTATACCTTTATAGATGCCACCTACTTTTTCCTAAAACTTCCTTTCCTCCTTGCTGGTCTTCTACTCATCCTTCAAAACTCCATCTAAGTGTCATCCTTTCTGGAAAGGCTTCACACAAACCTCAGGTCCTCCTCCCCCACGTTTCTCAGTTGCTGCCTCGCTCTGAGCGTTATGGCCCTCCCATTCACAGATATACTGTTGCTCAGCTCCACTGCTCGCTCATCCCTCCCTGCCATGCTATACCCTCCATTCAAAAAGT
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Task1_train_12889
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The gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; GNE myopathy
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TGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCTGAGAGCCTCTCTTCCACTAGTCTTCCTGTCAAAGCTTTCTCAGAGCAGTAAAAGAACCCACTCAAACTTTCATCTCAGGCTCTAGCTAAAATTTCTGTTCTACTGAGAGGATGCTCCTAAATAGCCAGAATTCATTTTATATTAAAAAAAAATCTGGACGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTGTGGATCCCTGAGCTATCCATTAAGTTTCTTCTCTACTCTTTAAGTATTTCCTAGTAGCGAATTCCCACCTTGTTTTTAAAGAATAGTCTGAAAAGGACAATTTTATTTTAACGCAAGGTTCTTTCAGATACAGTATTGTATTTGTGATCCTCTTTGGAGACTGCATTAATATATTCATGCCACAAGGGTGCACTAAATGACTTTTTATTACATACATCAAGATGTATGTAATACGCCTTGTTCTCTCAGATTATTCAACCTTTGCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACGGGCATGCGCCACCACAACTGGCTAATTTTTTTTTTTTTTGTATTTTTCGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCCACCCACCTCAGCCCCCCAGAGTGCTGGGATTATAGGCATGTGCCACCGTGCCCGGCCCAACTTTCACTTTTTAAATGTAGCCTGTGATTAATAACAAACCTAATGTCAGCAAAATAAATGTCAATGGTGACAGTAATGTAACTCTCTACTTTACCTTGCAGATTAGATTTTTAAAATCTTGTTCCATATCTACTACTTTATATGCTGTTGGCCTATAAACCAGTTTTAAAGATTGCCATTACAGCTCACAAAACAGTTTACATGGAATCACATTATTATACTCATACAATATGTATTTATAAGTGGCATTTGTTTGAATGTAACAACTAATAACAAACAGTAATATTATTTATAGCTACCATTTATCAATCATCTACTAAGCGGCATCATTGTGATGGATGCTCTATATCATGATCTCCATTCCTCACAATAATTTACAATATAAGTTTTCACTACATTATATAATGAGGAAACTGAGGCTCAGAGATGCTAAGTGACTACTCTAAGGCCACATAAAAACTAAGCAGCAGAACAGGAATTTGAAGCTGGGCCCATATGGCTACAAAACCCAAGCTCCTTCTAGCACACTGTTGCAATGAAGAATAAGAAAATGCTTTCATCTTACCCATAGTCATCTATCAGGTGAGAGCCAAGTACCACAACATCAAGTTCAAAGAACTCAGGTTCGGTTTTAATGCCAAACATGATCGGGGCAAGTTTAGAATAATCTGCACGGTTACAAGTAGCAACACAAACCCGCAGCTTTCGGTTATTTCCATTCTTCTCCATGATTTGCTTGTTTCGTTTTGAGAGGTTCTTAAAATAGAGTTCCTGAAATTGCCAAAATAAAAACTTTATAATCAGAATAACTCCTAGATATAACTAAACTTTAAACTTCTCTAAATCAGAAATAGAAATTTTCAGTTTCAAGTCCTTAACCACTATTTAGTACAGTGATTCTTAATCTTTTTTTGCACCTCCACTTATGTGTGACTCTCCCATTGGTATATCCAGAGTTAAGAAACTCCAAGGCTGGGAGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACGTGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGTACCTGTAGTCCCAGCTACTCGGGAGGTTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACCACCACACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGAAGAAGAAACTCCAGCAAACTAACTGTAACACCACCCCATCCTCTCACACTCAAGAAAACACACTGGAATGCCATTAAGAAGGAGTGATATAAATCAGCTCTTGTTTAAAAGGTGAGGAAATATCAGCTCTTTATTATTAAAAATTACTTGCCATAACTCACAGATGAGCCCAACATAGTAGGTTGTTGCAAAATCAGTTGTTGAGAACCACTGATCTAGTTCAACTCCATCACTTTATAGAAAGGGAAACACAGGTCTTGAGAGGGAAAATTACTGCCCCAACATTCCAGATCATGTCTCATAAGGAACACAGGCTATTCACTCTCACACTATACACTTCCTAAATACAAGGTATTGTGATTAATGCTGGGCAGGAGAAAGATGAGTAAGATAAAAACCTGACCTTCAAGCCCTCATTAGTACCTACACACCAGTGCCAACAAAACTGACAACTCCAAATGCCTATCAGATATCTCCTGCTGTATGTCCTATAAACACCTTAAAGTCAGTGTCCCAAACTGAACTCATTTTCTTTTCGGAAGCTGTTCCTCCTCAATTGTTCTCTGAGTTATGCAATTTCATTCATCCAAATGCCTTCAAATCCTTGTCTTTTCTGTTCTTCACCCCATATCTCCAAAATGCTGTCAATTCCACCCCCTAAATATCTTTCAAATCTATCTCCTCCTCTTCATCCATACAAGGACTTCCCCTAGTCCAGTCCCTCATTTTAGGTCTGGACGATCTTAACAGCTGTCAAGTGGTTTGCCTGTCTCCTATAAACTTTCTTACTTATTTATTTAGAGACAAAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGCACGAGCTTGGCTCACTACTACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAAGAGCCATTGCGCCCGGCCTCCTACAAACTTTCAAAGTGATCTTCCTTTCCACCATCTCTTCCCTGCCTAAAATTACCCTTCTCTGTGCCAAAGTGCCAGCCATACCAAACTGCCTCCAGTTCAACTAGTGAATCTCCGTATATCTATACCTTTATAGATGCCACCTACTTTTTCCTAAAACTTCCTTTCCTCCTTGCTGGTCTTCTACTCATCCTTCAAAACTCCATCTAAGTGTCATCCTTTCTGGAAAGGCTTCACACAAACCTCAGGTCCTCCTCCCCCACGTTTCTCAGTTGCTGCCTCGCTCTGAGCGTTATGGCCCTCCCATTCACAGATATACTGTTGCTCAGCTCCACTGCTCGCTCATCCCTCCCTGCCATGCTATACCCTCCATTCAAAAAGT
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TGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCTGAGAGCCTCTCTTCCACTAGTCTTCCTGTCAAAGCTTTCTCAGAGCAGTAAAAGAACCCACTCAAACTTTCATCTCAGGCTCTAGCTAAAATTTCTGTTCTACTGAGAGGATGCTCCTAAATAGCCAGAATTCATTTTATATTAAAAAAAAATCTGGACGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTGTGGATCCCTGAGCTATCCATTAAGTTTCTTCTCTACTCTTTAAGTATTTCCTAGTAGCGAATTCCCACCTTGTTTTTAAAGAATAGTCTGAAAAGGACAATTTTATTTTAACGCAAGGTTCTTTCAGATACAGTATTGTATTTGTGATCCTCTTTGGAGACTGCATTAATATATTCATGCCACAAGGGTGCACTAAATGACTTTTTATTACATACATCAAGATGTATGTAATACGCCTTGTTCTCTCAGATTATTCAACCTTTGCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACGGGCATGCGCCACCACAACTGGCTAATTTTTTTTTTTTTTGTATTTTTCGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCCACCCACCTCAGCCCCCCAGAGTGCTGGGATTATAGGCATGTGCCACCGTGCCCGGCCCAACTTTCACTTTTTAAATGTAGCCTGTGATTAATAACAAACCTAATGTCAGCAAAATAAATGTCAATGGTGACAGTAATGTAACTCTCTACTTTACCTTGCAGATTAGATTTTTAAAATCTTGTTCCATATCTACTACTTTATATGCTGTTGGCCTATAAACCAGTTTTAAAGATTGCCATTACAGCTCACAAAACAGTTTACATGGAATCACATTATTATACTCATACAATATGTATTTATAAGTGGCATTTGTTTGAATGTAACAACTAATAACAAACAGTAATATTATTTATAGCTACCATTTATCAATCATCTACTAAGCGGCATCATTGTGATGGATGCTCTATATCATGATCTCCATTCCTCACAATAATTTACAATATAAGTTTTCACTACATTATATAATGAGGAAACTGAGGCTCAGAGATGCTAAGTGACTACTCTAAGGCCACATAAAAACTAAGCAGCAGAACAGGAATTTGAAGCTGGGCCCATATGGCTACAAAACCCAAGCTCCTTCTAGCACACTGTTGCAATGAAGAATAAGAAAATGCTTTCATCTTACCCATAGTCATCTATCAGGTGAGAGCCAAGTACCACAACATCAAGTTCAAAGAACTCAGGTTCGGTTTTAATGCCAAACATGATCGGGGCAAGTTTAGAATAATCTGCACGGTTACAAGTAGCAACAGAAACCCGCAGCTTTCGGTTATTTCCATTCTTCTCCATGATTTGCTTGTTTCGTTTTGAGAGGTTCTTAAAATAGAGTTCCTGAAATTGCCAAAATAAAAACTTTATAATCAGAATAACTCCTAGATATAACTAAACTTTAAACTTCTCTAAATCAGAAATAGAAATTTTCAGTTTCAAGTCCTTAACCACTATTTAGTACAGTGATTCTTAATCTTTTTTTGCACCTCCACTTATGTGTGACTCTCCCATTGGTATATCCAGAGTTAAGAAACTCCAAGGCTGGGAGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACGTGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGTACCTGTAGTCCCAGCTACTCGGGAGGTTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACCACCACACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGAAGAAGAAACTCCAGCAAACTAACTGTAACACCACCCCATCCTCTCACACTCAAGAAAACACACTGGAATGCCATTAAGAAGGAGTGATATAAATCAGCTCTTGTTTAAAAGGTGAGGAAATATCAGCTCTTTATTATTAAAAATTACTTGCCATAACTCACAGATGAGCCCAACATAGTAGGTTGTTGCAAAATCAGTTGTTGAGAACCACTGATCTAGTTCAACTCCATCACTTTATAGAAAGGGAAACACAGGTCTTGAGAGGGAAAATTACTGCCCCAACATTCCAGATCATGTCTCATAAGGAACACAGGCTATTCACTCTCACACTATACACTTCCTAAATACAAGGTATTGTGATTAATGCTGGGCAGGAGAAAGATGAGTAAGATAAAAACCTGACCTTCAAGCCCTCATTAGTACCTACACACCAGTGCCAACAAAACTGACAACTCCAAATGCCTATCAGATATCTCCTGCTGTATGTCCTATAAACACCTTAAAGTCAGTGTCCCAAACTGAACTCATTTTCTTTTCGGAAGCTGTTCCTCCTCAATTGTTCTCTGAGTTATGCAATTTCATTCATCCAAATGCCTTCAAATCCTTGTCTTTTCTGTTCTTCACCCCATATCTCCAAAATGCTGTCAATTCCACCCCCTAAATATCTTTCAAATCTATCTCCTCCTCTTCATCCATACAAGGACTTCCCCTAGTCCAGTCCCTCATTTTAGGTCTGGACGATCTTAACAGCTGTCAAGTGGTTTGCCTGTCTCCTATAAACTTTCTTACTTATTTATTTAGAGACAAAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGCACGAGCTTGGCTCACTACTACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAAGAGCCATTGCGCCCGGCCTCCTACAAACTTTCAAAGTGATCTTCCTTTCCACCATCTCTTCCCTGCCTAAAATTACCCTTCTCTGTGCCAAAGTGCCAGCCATACCAAACTGCCTCCAGTTCAACTAGTGAATCTCCGTATATCTATACCTTTATAGATGCCACCTACTTTTTCCTAAAACTTCCTTTCCTCCTTGCTGGTCTTCTACTCATCCTTCAAAACTCCATCTAAGTGTCATCCTTTCTGGAAAGGCTTCACACAAACCTCAGGTCCTCCTCCCCCACGTTTCTCAGTTGCTGCCTCGCTCTGAGCGTTATGGCCCTCCCATTCACAGATATACTGTTGCTCAGCTCCACTGCTCGCTCATCCCTCCCTGCCATGCTATACCCTCCATTCAAAAAGT
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Task1_train_12890
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Given a variant located on Chromosome 9 and affecting PAX5 (paired box 5), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Neurodevelopmental disorder
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GGCCGTTTCCCATGTGTCTCATATTTAAAAGTCATCAATCAAGCTAGCAAATCGTTAAATGAAATATGCTCCATCCTCCTACCTTGTTAAATACATCTTCGAAACAACCTGGAAGGCCAGGATCGAATGTAGAATTCTGGGCCTTCTGGGCGTTCTGTGCCAGGATGTGGCCATAGGGGAGCCAGCCTAGCTAAGATCCGTCCTGCTGAGCTCCCCACCCTGGGATCCTCATCACCACGTGGGGCCTTGCACACGCATGTGTGGACACCCAGCCCGCACATCCAAGCTCCGTCCACACTCTCGACAGAGAGCCGGGCCTCAGGCCCAGGGATGCACACACCAGTGACATGGGCTGGCTTTAGGAGGATGGCCCGGGGGAAGAGACTTGGGCCTATTTGGGTGGGACTCCAGCATGAGCTAGAAAGAGGGGTGTGGTTATGTCCGTTTGGCCCTGCAGGCTCTCCCCAGTGCATGGGAGAGTGGGCAAGGCTTCAGCAGGGCTAAAGTGGGGCCCTCTAAGGGGTGGCTCCCTTATCTATTTATTTATTACATTATTATTTTTATTAATTGTTTTTGAGACAGGGTATCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCTTTCTGGGTTCAAGCAATTCTCATGCCTTAGCCTCCCGAATAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAAGTTTTGTATTTTGTTTGTTTGTTTGTTTAGTAGAGACAGGGCTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGTCTGCCTCTGCCTCCCATGGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCCAGTCTGGCTTTTTTAGGTGCCCAGAGACAGTCAAGAGTGTGTGTTAGGAGGAGATAAGGCCCTTAGAGCCCCAGGCACTGAAACAAGCTGTGTTGCCCCCTGTAAATGACTCTACCTAAGAGAGAGCATGGTGACTATAGTCAGTAATAATGCATTGCATATTTCCAACAGCTAAAAGAGAGGTTTTTAATGGTTCTCACTACAAAGAAATGATGAACATCTGAGGTGAAGGGTATGTTAATTAGCCTGATTTGATCATTCCACAATGCATACACTGTCAAAACACCACACTGTACCCTATAGATACACTGAACTATTTGTCTATTAAAAATTAAATTAAATAAATAAAAACTTTTAGAAATAATTTTTAAAAGGAGACAATGCTAACTCATAAAAGATGTGTAACAACATCCAGTGGAGGCCCGATTTTCCTCCTGATTTTTAAAAACATCTTTCAAGAAAGAATACTCGGGTATTCCTGCTATGCTAATGCCCTTAACACCCAGACAGCCAGTACCGCTTGTCCCCACACCACCCCACAATGTAAGGAGACATGGCAGCCTCCTCTCCAGATGTTTTAAACTGACAATCACCGGCCTGGGGGGATCAGGTTCCAACGGCCACAGGGTGTTCAGTTTAGAATCAAATGACAAACCCACCATCCAACATCCCGTCTGTCCTGAACACATTATCCTCAACCCCAAGGAGTGAGGCCACCGCGAGCACCTCAGCGCCTTCTGCTTGTTCGTGTCACACGATTGTGTGGGAGAGAGGGCGGGGGCCGGGAGGGAGGGAAGGTTGGGGAGAAGGCTCGCTCCACACCGGCTGGGTGACCTGCAGCCAGCCCCTGCACCCTCTGTGTTCAGACTCTGTACGTGGCCAACAAGGCCTGTTTGAGTGACAGTCAAAGACCCTCCCCTCGCCCCCGGTGTCCTCCCTGGTGCCGCTGCTGGCTGGTCCAGGGCCCACTGCAGGCCCAGCTGCAGAGAGTGCAGACCTCTGCCTGATTTATTCAGGTCCGCTTCTCAGAAGCGTAGAGGTCACCCAGGCTGTTTGGGGGGGGATGTCCCCCCACCGAAACCCCGTCCGCTGCCTGCTGTGGAGACGCCGACAGTGCAAACTCACCAGGCACCATCCCTGTCAGCGTCGGTGCTGAGTAGCTGCCCTGTCCAGCGGGGGGGACGTGTGGAGGGTACCCGGGGAGGGTCGTGCTCGCCAAGTCACGGCCTGAGGAATCAAAGCAACAAATCACAGGGTGAGCATCTTCGCGGCCAGCCGCTCATGTCCACAGCTCCCTGGACGCTTCTGCACATTTGTCACGTTTGGACGCTGAACGGCAATGTGCCCCCAGCTCCCCCCTGTCGCTCACACGCTCTCACAAACACACATACACACACACACACACACACACACACACTCATGCACACACATCTCCAGCCACCCTCGCTCCACTCAGCAAGAACAGAGTCAGGGATGTGGCCTGTTCCTGGGAAATCAGAACCCCCTGCTTGGGGAGGCTAGGCAATGCAGGTGACAGCACGCCCCGACTCCAGCCAGCTCTCCCTACTCTCTACTCCCCAAGAATGGCTGGGACCTCTCCATCTCCACACTGTTGTTTCTGCTATGTCCTTTGTACAAAGTCCCCCTTCCTCCAACTGCACACAGCCTGCCACCACCTGCCTTCAAAGACCAGCTCAAATGCCTCCCTTCTCCTCTCCTCAACAGCCCCCCACAGTGAACAGGGGGCATATCTGCCTCAAACCTTATAGTCCCATATCTGGCCTAGTACTGAATTTTTCCTCCTTTGGCCTAGAGCTGTTTCTTCATTCAGTGAAGATGCAGGAAGCACCTCCCAGTGCCAAACACTGTTCTGGCCCTGGGACATGGAGGTTAAGGCCTCAGCCCTCAAGGCGTGCACACTCCCATGGGCGAGTGTCCAGCTCTTTCAGGCTGCTGTGCTTCTGACCATGAGTCCAGAGTGTCCATGTGTCTCTCAGCTGGGACACTGTCACCATCACTGATTGGCTCCATCACGCAGAGGAAAATTCAATTGCACAGTTTTGATGGGTGTGCATGTTGGGGTAGAGGCCAGGACCACATAAGGGGTGCTGCCAAACCTGCCTCCTGAAAGATGGGGGGCATTAGCCCAGTAGGAGGCTGCCTGGTACAAGTGCTCACATCCTACTTGGCTGCCTGGGATGGATAAGAGGATCGTGAGAGGGGAGGGAACTTGTCCAAAGATACTCGGCTGACCTGAGGCAAGGCTGGGACTGACAGTCTGCCCCCCTGCCCCCTGGGAGTGGATCCTTTCTTCAACGGTGGGTTGCTCTCAGGGTCATTTCTGAACCCCAACAGTTTCTGCTGCTGTTACACATGCTTTAAAACCTTGAACCCTAAAGCAAATGTTCAGAAGATCAGTGCCTCACCAAAGCACTCAAGAAGCCAGATAAAAATCTATAAAATGAACCCAGGGAAAGAAGGAGGAAGGAATCAACAAAATAAAAACAGAAAAGAATGAATTAGGGGCAGGCTGTGGTTCACGCCTGTAATCTCAGCACTTTGAAAGGCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAACTCTGTCTTTACTAAAAAATATATATATATAAATTAGCCAGGCGTCGTGGCACATGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAAGTGGTGTAGGTTGCAGTGAGCTGAGGTGGCACCACTGCACTTCAGCCTGAGAGACAGAGTGAGACTCCATTCACAAAAAGAAAAGAAAAGAATGAATTAGGAAACAGAAAAGCAGACAACAATACATCAGCCAATAATTGTTATTTGAAAAGAACAATAAAATAGACAAATCTATCAAGATTCAAAAAAAAAGCACAGATAATCAAGATAAAGGATGAGGAGACATTATAACCAGAGATGATATTTAAAAACATAAAGAAACACACTCCACATGAATGAATGTAGAAATCTCAACAAAAGGTACAATTTTCTAGGAAAATATGAATTGCCAAAAGTAATTCAAGAAGAGTCAGAGAATACCAACATCCCAATAATCTTAGAAGAAATAGAAAAAGTTTAAAAAAAAATAAGTGCCTCATCCATTTAGCTTCTTGGGAAAGTTTTTGTTTGTTATTCTTTTTGGCAAGTTCTTTAAACCTTCAAGAGACACATATCTCAGTTATT
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GGCCGTTTCCCATGTGTCTCATATTTAAAAGTCATCAATCAAGCTAGCAAATCGTTAAATGAAATATGCTCCATCCTCCTACCTTGTTAAATACATCTTCGAAACAACCTGGAAGGCCAGGATCGAATGTAGAATTCTGGGCCTTCTGGGCGTTCTGTGCCAGGATGTGGCCATAGGGGAGCCAGCCTAGCTAAGATCCGTCCTGCTGAGCTCCCCACCCTGGGATCCTCATCACCACGTGGGGCCTTGCACACGCATGTGTGGACACCCAGCCCGCACATCCAAGCTCCGTCCACACTCTCGACAGAGAGCCGGGCCTCAGGCCCAGGGATGCACACACCAGTGACATGGGCTGGCTTTAGGAGGATGGCCCGGGGGAAGAGACTTGGGCCTATTTGGGTGGGACTCCAGCATGAGCTAGAAAGAGGGGTGTGGTTATGTCCGTTTGGCCCTGCAGGCTCTCCCCAGTGCATGGGAGAGTGGGCAAGGCTTCAGCAGGGCTAAAGTGGGGCCCTCTAAGGGGTGGCTCCCTTATCTATTTATTTATTACATTATTATTTTTATTAATTGTTTTTGAGACAGGGTATCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCTTTCTGGGTTCAAGCAATTCTCATGCCTTAGCCTCCCGAATAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAAGTTTTGTATTTTGTTTGTTTGTTTGTTTAGTAGAGACAGGGCTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGTCTGCCTCTGCCTCCCATGGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCCAGTCTGGCTTTTTTAGGTGCCCAGAGACAGTCAAGAGTGTGTGTTAGGAGGAGATAAGGCCCTTAGAGCCCCAGGCACTGAAACAAGCTGTGTTGCCCCCTGTAAATGACTCTACCTAAGAGAGAGCATGGTGACTATAGTCAGTAATAATGCATTGCATATTTCCAACAGCTAAAAGAGAGGTTTTTAATGGTTCTCACTACAAAGAAATGATGAACATCTGAGGTGAAGGGTATGTTAATTAGCCTGATTTGATCATTCCACAATGCATACACTGTCAAAACACCACACTGTACCCTATAGATACACTGAACTATTTGTCTATTAAAAATTAAATTAAATAAATAAAAACTTTTAGAAATAATTTTTAAAAGGAGACAATGCTAACTCATAAAAGATGTGTAACAACATCCAGTGGAGGCCCGATTTTCCTCCTGATTTTTAAAAACATCTTTCAAGAAAGAATACTCGGGTATTCCTGCTATGCTAATGCCCTTAACACCCAGACAGCCAGTACCGCTTGTCCCCACACCACCCCACAATGTAAGGAGACATGGCAGCCTCCTCTCCAGATGTTTTAAACTGACAATCACCGGCCTGGGGGGATCAGGTTCCAACGGCCACAGGGTGTTCAGTTTAGAATCAAATGACAAACCCACCATCCAACATCCCGTCTGTCCTGAACACATTATCCTCAACCCCAAGGAGTGAGGCCACCGCGAGCACCTCAGCGCCTTCTGCTTGTTCGTGTCACACGATTGTGTGGGAGAGAGGGCGGGGGCCGGGAGGGAGGGAAGGTTGGGGAGAAGGCTCGCTCCACACCGGCTGGGTGACCTGCAGCCAGCCCCTGCACCCTCTGTGTTCAGACTCTGTACGTGGCCAACAAGGCCTGTTTGAGTGACAGTCAAAGACCCTCCCCTCGCCCCCGGTGTCCTCCCTGGTGCCGCTGCTGGCTGGTCCAGGGCCCACTGCAGGCCCAGCTGCAGAGAGTGCAGACCTCTGCCTGATTTATTCAGGTCCGCTTCTCAGAAGCGTAGAGGTCACCCAGGCTGTTTGGGGGGGGATGTCCCCCCACCGAAACCCCGTCCGCTGCCTGCTGTGGAGACGCCGACAGTGCAAACTCACCAGGCACCATCCCTGTCAGCGTCGGTGCTGAGTAGCTGCCCTGTCCAGCGTGGGGGACGTGTGGAGGGTACCCGGGGAGGGTCGTGCTCGCCAAGTCACGGCCTGAGGAATCAAAGCAACAAATCACAGGGTGAGCATCTTCGCGGCCAGCCGCTCATGTCCACAGCTCCCTGGACGCTTCTGCACATTTGTCACGTTTGGACGCTGAACGGCAATGTGCCCCCAGCTCCCCCCTGTCGCTCACACGCTCTCACAAACACACATACACACACACACACACACACACACACACTCATGCACACACATCTCCAGCCACCCTCGCTCCACTCAGCAAGAACAGAGTCAGGGATGTGGCCTGTTCCTGGGAAATCAGAACCCCCTGCTTGGGGAGGCTAGGCAATGCAGGTGACAGCACGCCCCGACTCCAGCCAGCTCTCCCTACTCTCTACTCCCCAAGAATGGCTGGGACCTCTCCATCTCCACACTGTTGTTTCTGCTATGTCCTTTGTACAAAGTCCCCCTTCCTCCAACTGCACACAGCCTGCCACCACCTGCCTTCAAAGACCAGCTCAAATGCCTCCCTTCTCCTCTCCTCAACAGCCCCCCACAGTGAACAGGGGGCATATCTGCCTCAAACCTTATAGTCCCATATCTGGCCTAGTACTGAATTTTTCCTCCTTTGGCCTAGAGCTGTTTCTTCATTCAGTGAAGATGCAGGAAGCACCTCCCAGTGCCAAACACTGTTCTGGCCCTGGGACATGGAGGTTAAGGCCTCAGCCCTCAAGGCGTGCACACTCCCATGGGCGAGTGTCCAGCTCTTTCAGGCTGCTGTGCTTCTGACCATGAGTCCAGAGTGTCCATGTGTCTCTCAGCTGGGACACTGTCACCATCACTGATTGGCTCCATCACGCAGAGGAAAATTCAATTGCACAGTTTTGATGGGTGTGCATGTTGGGGTAGAGGCCAGGACCACATAAGGGGTGCTGCCAAACCTGCCTCCTGAAAGATGGGGGGCATTAGCCCAGTAGGAGGCTGCCTGGTACAAGTGCTCACATCCTACTTGGCTGCCTGGGATGGATAAGAGGATCGTGAGAGGGGAGGGAACTTGTCCAAAGATACTCGGCTGACCTGAGGCAAGGCTGGGACTGACAGTCTGCCCCCCTGCCCCCTGGGAGTGGATCCTTTCTTCAACGGTGGGTTGCTCTCAGGGTCATTTCTGAACCCCAACAGTTTCTGCTGCTGTTACACATGCTTTAAAACCTTGAACCCTAAAGCAAATGTTCAGAAGATCAGTGCCTCACCAAAGCACTCAAGAAGCCAGATAAAAATCTATAAAATGAACCCAGGGAAAGAAGGAGGAAGGAATCAACAAAATAAAAACAGAAAAGAATGAATTAGGGGCAGGCTGTGGTTCACGCCTGTAATCTCAGCACTTTGAAAGGCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAACTCTGTCTTTACTAAAAAATATATATATATAAATTAGCCAGGCGTCGTGGCACATGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAAGTGGTGTAGGTTGCAGTGAGCTGAGGTGGCACCACTGCACTTCAGCCTGAGAGACAGAGTGAGACTCCATTCACAAAAAGAAAAGAAAAGAATGAATTAGGAAACAGAAAAGCAGACAACAATACATCAGCCAATAATTGTTATTTGAAAAGAACAATAAAATAGACAAATCTATCAAGATTCAAAAAAAAAGCACAGATAATCAAGATAAAGGATGAGGAGACATTATAACCAGAGATGATATTTAAAAACATAAAGAAACACACTCCACATGAATGAATGTAGAAATCTCAACAAAAGGTACAATTTTCTAGGAAAATATGAATTGCCAAAAGTAATTCAAGAAGAGTCAGAGAATACCAACATCCCAATAATCTTAGAAGAAATAGAAAAAGTTTAAAAAAAAATAAGTGCCTCATCCATTTAGCTTCTTGGGAAAGTTTTTGTTTGTTATTCTTTTTGGCAAGTTCTTTAAACCTTCAAGAGACACATATCTCAGTTATT
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Task1_train_12891
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A change on Chromosome 9 affects gene PAX5 (paired box 5). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Neurodevelopmental disorder
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ACTTTCTTCCACATTCTGGAGGGAAGGACAGGCCTCATCCAGGAAGGTTTCCTGATCGAGGCCCCTCTCACTCTCCTCCCGTGTCAGAGAAAATGTGCCTTCTGCCGTCTCTCAGAAGGGCTCTGAGCAGAGCAGAGAGGGTGCTTGTGATAGAAACAGACTCTCCTCCCTGAAGTCCAAGATCTAGAGTGTGTGGGGGCGGCTATGCCCAGCACCATAACCATGTCCTACCCAACAGAGGTGTCACTCGACTTGTAAGAGAAAGACTAAAATCCTCAACCCAGTCTACAAGACCAGGCCCACCTCCCCAGCATCATCGCCCGCCCATCCCTGAGCCACAACCACACCGGCTCTCTCCATTCCTCGTTCCTGCCGCCTTCCTCTCAACTCAGGGCCTTTGCACTTGCTGTCCCCTCTGCCAGGCACTTTCCCTCCACCCCCACACCCCTTCTCCTTGCTCCACTCAACCCCTTCAGGCTCAGCATAAATACCTTTCCCCCAGGAGGCCACTGAGGCCTCCAGGCTGGCTCAGCCTTTCCTTTAGGCTCTCAGAGAACCTCAGACACCTCCTCCTTAGCACCAAGCGCACCTGTAACCCATGACCCTTTAGGTAATTCTTCTATTGGGATTCTTCCACAAGTCTGTAGGCTCCCTGAGGGGAGGTCCAAGACCATCTTGTTCACTGATGTGACCCAGTGCATGGCTCCAGGCCTTGCACAAAGTAAACACTCATCATATTTGTTATGTGAATGCGTCTTGCAGCGTGGCCTTAGGCAAGTTGCTCTGCCTCTCTGGACCTTGGTTTTACCATCTGAAAACAAAGTGGCTAGAAGGTCTGTAAGAGCTCTCATAGAAACTGCTCAGACACAGACAGACTGTCATAGATGGGTGGCCCCAGAGGCCCTGCTCTTCCCTCACCACACGGTTCTCTCCAGCACCTCGCCTCTCCATGGGAGCTGTGCAGGGAGGCTACACTGCTTGGACTGACTTTTTGGAGAAGATTCAGAAGCATCCTCTAATTAGCATTTAGAGGAAACTCAGCGCAGCCAGTTCTCACCACTAGTACCAGCGAGGAAAGTGCCGAGGAAAGTTGTTGTCTGTAGGGTCTCTCTGGTTGGCCCACCAGGTGGGAGCTCTTGGCAGTCCAGAGCCATGTCTAGCCTGCAAGGTTACCTGTCAAGGCCCTGGCACACACTGGGTGTCAGGAAATAGTCTTATGAACTGAATCTGATAGTCCAGAGATCTTAGTCAGGCCTCAAGAGCCTCTCACTGGGCCGAGCCTCGTGATCTCATCTCTATAGCCACAGGTAGTGACTACTCTGCCCAGGGTATAGCAGACAGCCGGTCAGCCAGGGCTGGTCCTCCTGCTTTCTCCCTCTCTTGCAAATAACCCAGGTGGGAGTTTGTGCAATGAGACATTTCTTTATCTCCAGAATTTTGGATTCAGTCACTAAGAGAATGACAAGGCGACCTGGTGAGAGGGCAGACAGTGGGATACCCACCCGCTCCGTCATTCCATTGTTCACGGCCGGTGAGCCCCCAGGCCGCGTGCTGGTTACATATTTCCACCATCACCCTGACTGACAAGATACTGACCCAAGACCACCTTACGTGGCCCGAAAGATCATTACACCCTTCTGTCCAAAGAGCCCTTGGAAAGGACACCAGAGCAGCCAGAGAAGTCACCCACCCCCTGGCTGGCCAGCGACAGAGGCACCAGGGCAAGAAGCCACTGGAGGCCCAGACAAGCCCTCCCGACCTTATAGGATGTAGCGACTGCCCAAGTTTGGCCAAGAACACTGAAGAGACCTCTCTGAGCAGAACCTGGTGTGCCCTCACCCACACCCCGCCAGATGCCTCTGCCTTCAGGAACCTGGCTGGGCCGGTGTGGCGGTGGCAGGTGTGGTGGGCGTGCATCACGAGGCGTACCTGCTCGGGCTTGATGGGCTCTGTGGTGGTGAAGATGTCTGAGTAGTGCTGCCTCTCAAACACGCGGTCCAGCACCTCCAGCTGCTGCTGTGTGAACAAGTCTCCCCGCATCTGCTTCCGGAGGAAGTCTCTGCCCGGAAGCGAGTGGCCGTTCGGCACCGGAGACTCCTGAATACCTTTGATGAGCAGGAGAGAGGAAGGGTGAGTGGAGGTTATACACGTTGCTAAAGAAAGACAGGTCAGACCCTGAGACTATGAAGAGGACCTGACCCCAACTCCCTCCCTGACCAGAGAATACACCAGCAGGGGCTCAGGTAAGGCACTGCCTTTCCCAAGGTCACCTGCTGGTAAGTTCAGAGTCAGCCTCCCGCAGCCATGTGCCAGGGACTGTGCAAAGCCCTTTTGACAGGCATCATGTCATCTAATCCTCATGATGACCCTCAAGGTAGGTTATTTTCCCCACTTTGCAGATGAGAAGACTGAGACCTAGAGAGATTTATTGGTTTGCCTGAGGATTCGAGCTTGGGCTGACCCACAGGCTTAGTCATCCGGTGCTCCTGCCCCTCCTGTCCTAAAGACCTTCCCGGGAGGTACAGTTTTTCCCAGAGTTGAGGTCCTTACCCTGGACATTTGCTACCACATCATGTGACCGGTCAGTGAAACACTGTGCTAGGAAGACTGTAGGAAAACGGGACTCTCATACAATTCTGGTGGAAGTGGTAACAACACCTGTGCTAGACAAGTCGACAAATCTATCAAAGCCACAAATGCACATTCCCTTTGATATAGCGATTGCACTTCTGGGAATTTATTTTACAGCTCAACTTACACATGTGAGAAGTGATGTATGTACAAGGTTCTTGTAGCAAAAGACTGGAAACAACCCAAGAGTTTATTTGTGGGGGGTTGGTTAACTCAGCCAGGCATACTTGCATAATGGAAAACTGTGCAGCAGCTGAAAAGGAATGAGGCTTCCTTCTGTGAATTGATATGAAAAGATCTTCAAGATACATTGTTATGTTAAAAAATAAAAAACAAGGTACAGCACAGCATGTATAATGTACAACCTTTTGTGTAAAAAAGGAAGAAAATAAGACGATGTGCAATATAAATCTCTCCAAAGGATATATGAGAAACATTTACAGTGGTTGCTCATTCAGGGAGGTAGGAAGTGAGTGAGTGGAGGTGAGGGGGAGAGACTTTTCATGGCATGTTTTTCTTTGGTTTGGTTTGGTTTCAGAAGTTTGAATGTACTGCTTATTACAAAATGTAAATTAACTAAGTATAAGATTAAATTCCCTCTGTGTTCTGTATTGTTAGCTATTCACACTGTAACAGTCTCTGGTGATGATGCTTACATGTCAAAAGAAATATTACGAATTATCAATAAAGAAACAAATGGGATGAAATATCTTCTGTTGAGTCTCAAGCTTGAACTGTTCAAAATAAAATCAAGCACAGAGGGCAAATGTTTCCCGTGAGGAAATGGCCTCGGGGGTACATCATTCCCCGGGGCTCTCTGGGACCATATTGCTCACGCAAGGCTGACCAGAGGCTTCTTGAAACCCAGGCCCAGAGGTGAGGCATCTGCCTTTGCAGTCAGGAAGCCCTGGGGAAAACCAGCGTGGGTCTGCTCTCATGCTGAAAGGTGCCCTTACTCAAGGCCTTGTCTGACCCCTGCCCCCACCAGTGCACTGCTGCCCTAGACTAGACTTCATCCGTCACGTCAAGCTCCCACCCATGTGAGGAATGAGGCCAGACTAAAGACCATGAAGCAGTGAGATGTGGTGTCACCAAGACTCAGTCAGAAGTCAATGCTTCCTCAACTGTACTTATCTGGGGACAACTGCAATGCAGGGCTGACATTTGAACAAAGATAGCAGCTTTGAGTTTTGGCCTTTCGGATCCCTCGTAGAAGTCAACAGGCTCAGAGGACCCAGCATCCTCTATAGGAAGGGCCTTCGGAGGCAGCTCATGAGCCCTCTGAGAAAATGGATTCCCCACCAATTTTGACCCAAGAGGATACTGTAGGCTGGGCCACAGCCTGAGTGACCAGATACCCCCACATGTGGGCCAAGGCAGAAGTTGGTCTCTCTGACCAACGTTCCCCAGCCTGAAGCCTAGGCCCCTCCTCTGGCAGCCCATGACCTTGGCCTTCCACAAGACA
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ACTTTCTTCCACATTCTGGAGGGAAGGACAGGCCTCATCCAGGAAGGTTTCCTGATCGAGGCCCCTCTCACTCTCCTCCCGTGTCAGAGAAAATGTGCCTTCTGCCGTCTCTCAGAAGGGCTCTGAGCAGAGCAGAGAGGGTGCTTGTGATAGAAACAGACTCTCCTCCCTGAAGTCCAAGATCTAGAGTGTGTGGGGGCGGCTATGCCCAGCACCATAACCATGTCCTACCCAACAGAGGTGTCACTCGACTTGTAAGAGAAAGACTAAAATCCTCAACCCAGTCTACAAGACCAGGCCCACCTCCCCAGCATCATCGCCCGCCCATCCCTGAGCCACAACCACACCGGCTCTCTCCATTCCTCGTTCCTGCCGCCTTCCTCTCAACTCAGGGCCTTTGCACTTGCTGTCCCCTCTGCCAGGCACTTTCCCTCCACCCCCACACCCCTTCTCCTTGCTCCACTCAACCCCTTCAGGCTCAGCATAAATACCTTTCCCCCAGGAGGCCACTGAGGCCTCCAGGCTGGCTCAGCCTTTCCTTTAGGCTCTCAGAGAACCTCAGACACCTCCTCCTTAGCACCAAGCGCACCTGTAACCCATGACCCTTTAGGTAATTCTTCTATTGGGATTCTTCCACAAGTCTGTAGGCTCCCTGAGGGGAGGTCCAAGACCATCTTGTTCACTGATGTGACCCAGTGCATGGCTCCAGGCCTTGCACAAAGTAAACACTCATCATATTTGTTATGTGAATGCGTCTTGCAGCGTGGCCTTAGGCAAGTTGCTCTGCCTCTCTGGACCTTGGTTTTACCATCTGAAAACAAAGTGGCTAGAAGGTCTGTAAGAGCTCTCATAGAAACTGCTCAGACACAGACAGACTGTCATAGATGGGTGGCCCCAGAGGCCCTGCTCTTCCCTCACCACACGGTTCTCTCCAGCACCTCGCCTCTCCATGGGAGCTGTGCAGGGAGGCTACACTGCTTGGACTGACTTTTTGGAGAAGATTCAGAAGCATCCTCTAATTAGCATTTAGAGGAAACTCAGCGCAGCCAGTTCTCACCACTAGTACCAGCGAGGAAAGTGCCGAGGAAAGTTGTTGTCTGTAGGGTCTCTCTGGTTGGCCCACCAGGTGGGAGCTCTTGGCAGTCCAGAGCCATGTCTAGCCTGCAAGGTTACCTGTCAAGGCCCTGGCACACACTGGGTGTCAGGAAATAGTCTTATGAACTGAATCTGATAGTCCAGAGATCTTAGTCAGGCCTCAAGAGCCTCTCACTGGGCCGAGCCTCGTGATCTCATCTCTATAGCCACAGGTAGTGACTACTCTGCCCAGGGTATAGCAGACAGCCGGTCAGCCAGGGCTGGTCCTCCTGCTTTCTCCCTCTCTTGCAAATAACCCAGGTGGGAGTTTGTGCAATGAGACATTTCTTTATCTCCAGAATTTTGGATTCAGTCACTAAGAGAATGACAAGGCGACCTGGTGAGAGGGCAGACAGTGGGATACCCACCCGCTCCGTCATTCCATTGTTCACGGCCGGTGAGCCCCCAGGCCGCGTGCTGGTTACATATTTCCACCATCACCCTGACTGACAAGATACTGACCCAAGACCACCTTACGTGGCCCGAAAGATCATTACACCCTTCTGTCCAAAGAGCCCTTGGAAAGGACACCAGAGCAGCCAGAGAAGTCACCCACCCCCTGGCTGGCCAGCGACAGAGGCACCAGGGCAAGAAGCCACTGGAGGCCCAGACAAGCCCTCCCGACCTTATAGGATGTAGCGACTGCCCAAGTTTGGCCAAGAACACTGAAGAGACCTCTCTGAGCAGAACCTGGTGTGCCCTCACCCACACCCCGCCAGATGCCTCTGCCTTCAGGAACCTGGCTGGGCCGGTGTGGCGGTGGCAGGTGTGGTGGGCGTGCATCACGAGGCGTACCTGCTCGGGCTTGATGGGCTCTGTGGTGGTGAAGATGTCTGAGTAGTGCTGCCTCTCAAACACGCGGTCCAGCACCTCCAGCTGCTGCTGTGTGAACAAGTCTCCCCGCATCTGCTTCCAGAGGAAGTCTCTGCCCGGAAGCGAGTGGCCGTTCGGCACCGGAGACTCCTGAATACCTTTGATGAGCAGGAGAGAGGAAGGGTGAGTGGAGGTTATACACGTTGCTAAAGAAAGACAGGTCAGACCCTGAGACTATGAAGAGGACCTGACCCCAACTCCCTCCCTGACCAGAGAATACACCAGCAGGGGCTCAGGTAAGGCACTGCCTTTCCCAAGGTCACCTGCTGGTAAGTTCAGAGTCAGCCTCCCGCAGCCATGTGCCAGGGACTGTGCAAAGCCCTTTTGACAGGCATCATGTCATCTAATCCTCATGATGACCCTCAAGGTAGGTTATTTTCCCCACTTTGCAGATGAGAAGACTGAGACCTAGAGAGATTTATTGGTTTGCCTGAGGATTCGAGCTTGGGCTGACCCACAGGCTTAGTCATCCGGTGCTCCTGCCCCTCCTGTCCTAAAGACCTTCCCGGGAGGTACAGTTTTTCCCAGAGTTGAGGTCCTTACCCTGGACATTTGCTACCACATCATGTGACCGGTCAGTGAAACACTGTGCTAGGAAGACTGTAGGAAAACGGGACTCTCATACAATTCTGGTGGAAGTGGTAACAACACCTGTGCTAGACAAGTCGACAAATCTATCAAAGCCACAAATGCACATTCCCTTTGATATAGCGATTGCACTTCTGGGAATTTATTTTACAGCTCAACTTACACATGTGAGAAGTGATGTATGTACAAGGTTCTTGTAGCAAAAGACTGGAAACAACCCAAGAGTTTATTTGTGGGGGGTTGGTTAACTCAGCCAGGCATACTTGCATAATGGAAAACTGTGCAGCAGCTGAAAAGGAATGAGGCTTCCTTCTGTGAATTGATATGAAAAGATCTTCAAGATACATTGTTATGTTAAAAAATAAAAAACAAGGTACAGCACAGCATGTATAATGTACAACCTTTTGTGTAAAAAAGGAAGAAAATAAGACGATGTGCAATATAAATCTCTCCAAAGGATATATGAGAAACATTTACAGTGGTTGCTCATTCAGGGAGGTAGGAAGTGAGTGAGTGGAGGTGAGGGGGAGAGACTTTTCATGGCATGTTTTTCTTTGGTTTGGTTTGGTTTCAGAAGTTTGAATGTACTGCTTATTACAAAATGTAAATTAACTAAGTATAAGATTAAATTCCCTCTGTGTTCTGTATTGTTAGCTATTCACACTGTAACAGTCTCTGGTGATGATGCTTACATGTCAAAAGAAATATTACGAATTATCAATAAAGAAACAAATGGGATGAAATATCTTCTGTTGAGTCTCAAGCTTGAACTGTTCAAAATAAAATCAAGCACAGAGGGCAAATGTTTCCCGTGAGGAAATGGCCTCGGGGGTACATCATTCCCCGGGGCTCTCTGGGACCATATTGCTCACGCAAGGCTGACCAGAGGCTTCTTGAAACCCAGGCCCAGAGGTGAGGCATCTGCCTTTGCAGTCAGGAAGCCCTGGGGAAAACCAGCGTGGGTCTGCTCTCATGCTGAAAGGTGCCCTTACTCAAGGCCTTGTCTGACCCCTGCCCCCACCAGTGCACTGCTGCCCTAGACTAGACTTCATCCGTCACGTCAAGCTCCCACCCATGTGAGGAATGAGGCCAGACTAAAGACCATGAAGCAGTGAGATGTGGTGTCACCAAGACTCAGTCAGAAGTCAATGCTTCCTCAACTGTACTTATCTGGGGACAACTGCAATGCAGGGCTGACATTTGAACAAAGATAGCAGCTTTGAGTTTTGGCCTTTCGGATCCCTCGTAGAAGTCAACAGGCTCAGAGGACCCAGCATCCTCTATAGGAAGGGCCTTCGGAGGCAGCTCATGAGCCCTCTGAGAAAATGGATTCCCCACCAATTTTGACCCAAGAGGATACTGTAGGCTGGGCCACAGCCTGAGTGACCAGATACCCCCACATGTGGGCCAAGGCAGAAGTTGGTCTCTCTGACCAACGTTCCCCAGCCTGAAGCCTAGGCCCCTCCTCTGGCAGCCCATGACCTTGGCCTTCCACAAGACA
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Task1_train_12892
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A mutation on Chromosome 9 affecting PAX5 (paired box 5) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Acute lymphoid leukemia
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TCACATACAGAAATATCCATGCATACATCTACACAAGCCCCAGCTTCTGCCTTCTCTTGAAGAATGCAAAAAATCTGGCAAACACCAGACCCATGGTCCTGGCAGCATTCGGCTGGAGCTAAGAAGCACTGCCCCTTTAATCGGACTTGTGCTGCCTAGCTTGCCAGGGACCCAACCTCTCCCCATCGTCTTTTGCCTGGCCTGCTTCCCTCATTACCTTATCTGCCTGGCCCCATGTAAGGCATTAGATTTTGTGACCCCCATGGACTACCTAAGGTTATCTTGCGAACCCCCAATTATATGTGTACTCTACGTTGGGAAACCTGTGGGTCCCCAAAGCCTGACCAGGGGTTTGGCTGATGTTCCTCTGCAGAGCAGGCCAGCTGCCTGTCATGTTGTTTTGTGTCGTGGAAATCCCGCAAAGAGCCAGAAGTAAGGGGCTCATAAAACACAATGGAGCCTCTTATAATCCATAAAAAGAACAGGAGTTATCCCCTCCTCCCCAAAACCTACCATCATCATTGCTATCCCCTCAGCAATTTTGTCCAGGTGCATCAGGCTTCTAAGTGCATGTCAGAACCCCACCCTGGACAAAGAGCCCCTCTGGAACAGACCAAGAAACTGTGTGCCTGATTCTCCTCTATCTCCCCTGTACCATGCATGATGTCAGGGCCTCTGTCAAGGTTTGCCAAGAGAAGAAAAACAGGCTAACAATTTACAAAATAGCAGGACTCAAAATGTGAACACATGCACTCCCACAGCGATCTGTGCATTTGAATCATCACAGAAGGATCCACTATCAGGACAAGAGGCTCTCATTCTAGTCTGACCGACCACCTCATTCTGCCAGGAGTGAGGGTCTCCTACGCCCACACAAGCTCTGCACTGATGATGGTAGGGTGTGATTTGGAGAAATGGAAACTGTCCAAGTTTTCAGGCTGCTCCCTTCTCTTTTCTCTGCAGAGTTTAGAGAACCATCATTTCTGTTCATCTCTGAACTTCATCCCTGACTCTTTGGGTTTAAATGGAGTTGAAATTTCATCATCTACAACAGAAAACTTTCTTCCATACATTTATTTTTAAAGCTCTGAGAGCGCCCTTCCATGTGTCTTGGATCAGACTGGAAAGGAAAGGGAGCTGTGTGGCTGCCAGGAAGATCCTGTGCATGACTCCCAGGGTGTTTCTCTGGTTCTTTCTCTCCCTGTGTGAGATTCCATGTATGAGTTGGGGAGAGGGCAACTCCTTTGCTCCAGAGCATCTTAGCCTCCTGGACAACACCTCTGGAGTTGAAGATGCACATCAGAACCACTGGGGTTCTGGGCTCTCAGAGAGAGGAAGAGCTTTGTCAAGGTCCCACTTTGAGCTTGTGGCAGAGCTGGAACAAGGAGCCAAGTCTCCCAACTCCAAGTCAGGTTTATGTTCCTCTCACTCACTGGCTCAAGCTCTGCCCAAACTGGAGGAAGGATTTTCTTCCTGGGAATCTTTGAGATGGGCCAGTGCTAAGACCTTGAGCCTAGGTTTGCAGGGACAGCGACATTTGTGAAGATCTAGTCAGGACAATTCACTGTGAAGTGTTCCACACATATAGGTGGGTGGTGAAGGGAGGGATGGAAATAACTCTGGGCTCAGAAGAAACTCGAGCGGCCAGGGTGTTGGCATGCTCCCCTCTCCCTGGGCCTAGGACTCCTACCTGCTTTGGAAAGAAGAGAAGGGTAACAGAGACCGAGCAGGCCCCATTAGCATCCCTCCTGTTCAGTAACCCCTAAGGGGCCTTGGTGAAAAAAGAGACCAGATCTTCAGGAAAGGCACATGCAGAGCCTCCAGGATGCCCTGCCATCCCTCCAAATCCCCAACCCCCACAGGCACGAGCCCCTCACCTGTTGATGGAACTGACGCTAGGCACGGTGTCATTGTCACACACCCGCTCTGCCAGCAGCCGGTCCCTGATCTCCCAGGCAAACATGGTGGGATTTTGGCGTTTATATTCAGCGATTTTTTCCACCACTTTGGGTGTGGCGACCTTTGGTTTGGATCCTCCAATTACCCCAGGCTTGATGCTTCCTGTCTCATAATACCTAGGACCCAAAGAGAAAGAAGCTTAGCCATGAGGAACCAGTAAAGTGGATATTGGCAACAAAATAACGGGCTACTCTGGCCAGGAAACGTCCGGATCTGCACGTTCCAATACAGTAGCCACCAGCCAGATGCGGCTTTTGAACATTTGAAATATGGCTAGTCTGAATCAAAATGTGCTGTAAATATAAAATACACACCAAATTTTTAAAACTTAGTACCAAAAGAAGTAAAATATCTCAATAATTTTGATATTAGTTGTATGTTGAAATAACAATTTTTATATATTGAGTTAAAATATATAATTAAAATATAGTACCTCTTTTTTTTAACTTTTCTTAATGTGCTGCTGGAAAATTTTAAATTGCATACACAGCTCTCATAGTATTTCTTTTTTTTTTTTTCAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAATGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGGTTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTTATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCAGTCTCTCATTGTATTTCTATTGGACAGCACTGGCTAAGCATTAACAAAATTCTTTCACATTCATCTACCATTTTATAGTTTACAGAAAACTTTCGAGTCAGTTTTCCCATTTTATCTCCAACAGTTCTAAAGCACATAAATTGCTTTGAATTAATGAATGAGTGAATGAACAAATAAATGAATAGGTCCTGATCTACAGGTATAAAGCAGAGATTCATCAAGGTTAAACAGTTTTCCTAGGGTCACACAAGACCAAATGGGCAAGCTAGGGCTGTTGCCCACCCAGCCTCTTGAACTACAATTTCCCCAATAAGGTAGCTTACACTTTTGATTTGCCAGCTCTCCCAAGCCCTAGCACAATCTCCAGCATTGTATGAAACTGTCCCCTGAAATGCAACTTATTTTTCTGTAAGAGAAAAATAATAATCCTGGTGTAAAATTAAAAGGAATGTTGAATTGCAGAATTATCTGAAAATATCTGTTGTAAGTCAAAACTCAAGCAATCGGAAAAACCAACCACAAGTCACGGCAACTCTTCCAGGGACCTCCCCTGAGGTAAATGGCTGTTTCTAAGGACATTTCCATGCTATCAGCATTTGCTCATTAAGGAAAATAGGATGTCAGGGTTTTACAGTAAAACCAAGACCAAGAAGAAGAGTGTCATGAAACATCATTTCAGGGGGGGATAATTGACATAATTTCTTTTCTGAATCTGAGACATCACCAGACGTCTCTCTCAATATTTACAGAAGAATTCTTGATTTCCTTTTCCAAGGAAATTATCTTGCAGTTGAATCTGTTTTAAAAAACCAAAAAGACATTTTTTAAATGACTAATAATTTTGAAACCTAACAAGAGTTGATGATAGGTAAGGGAACGAGGTGATTCTGAGATGGGTAGAAAATGTTACCCAAGATGACTGGTCACATTTACAGAGATGCTGAAATTCTCAGCCTGGGTATGTTTGGGTAAGGCCAAGTTAGTGAATATCCTGAAAGAGATGAAATACTTTGGAAGCAGTGATGTGAAAGTGAAATGTCTGTTTTTCATTGAAAAGAGTGAGTCATTTACAAATTTTGACCATAAGGTAAAAACTCAACCTATCTTCCCTCTTTCTAAAAAATTGCTTTCAGCAATTTTTCTGTAATTGCCAAAAAATTATTACTCACAAACAACTTTTTAACAATATCCCAAAAAAACCAGATGGCTAGAAAAGCACCCTAAGTCAAGGCACACAGCAATCTCTGCAGTCTCCAATTGTCCTGTCAATTTTATAATGTAAAGCCAATTTTTACTATAATACAACTCACTATAATTCAGCCACAGCACCCTAAA
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TCACATACAGAAATATCCATGCATACATCTACACAAGCCCCAGCTTCTGCCTTCTCTTGAAGAATGCAAAAAATCTGGCAAACACCAGACCCATGGTCCTGGCAGCATTCGGCTGGAGCTAAGAAGCACTGCCCCTTTAATCGGACTTGTGCTGCCTAGCTTGCCAGGGACCCAACCTCTCCCCATCGTCTTTTGCCTGGCCTGCTTCCCTCATTACCTTATCTGCCTGGCCCCATGTAAGGCATTAGATTTTGTGACCCCCATGGACTACCTAAGGTTATCTTGCGAACCCCCAATTATATGTGTACTCTACGTTGGGAAACCTGTGGGTCCCCAAAGCCTGACCAGGGGTTTGGCTGATGTTCCTCTGCAGAGCAGGCCAGCTGCCTGTCATGTTGTTTTGTGTCGTGGAAATCCCGCAAAGAGCCAGAAGTAAGGGGCTCATAAAACACAATGGAGCCTCTTATAATCCATAAAAAGAACAGGAGTTATCCCCTCCTCCCCAAAACCTACCATCATCATTGCTATCCCCTCAGCAATTTTGTCCAGGTGCATCAGGCTTCTAAGTGCATGTCAGAACCCCACCCTGGACAAAGAGCCCCTCTGGAACAGACCAAGAAACTGTGTGCCTGATTCTCCTCTATCTCCCCTGTACCATGCATGATGTCAGGGCCTCTGTCAAGGTTTGCCAAGAGAAGAAAAACAGGCTAACAATTTACAAAATAGCAGGACTCAAAATGTGAACACATGCACTCCCACAGCGATCTGTGCATTTGAATCATCACAGAAGGATCCACTATCAGGACAAGAGGCTCTCATTCTAGTCTGACCGACCACCTCATTCTGCCAGGAGTGAGGGTCTCCTACGCCCACACAAGCTCTGCACTGATGATGGTAGGGTGTGATTTGGAGAAATGGAAACTGTCCAAGTTTTCAGGCTGCTCCCTTCTCTTTTCTCTGCAGAGTTTAGAGAACCATCATTTCTGTTCATCTCTGAACTTCATCCCTGACTCTTTGGGTTTAAATGGAGTTGAAATTTCATCATCTACAACAGAAAACTTTCTTCCATACATTTATTTTTAAAGCTCTGAGAGCGCCCTTCCATGTGTCTTGGATCAGACTGGAAAGGAAAGGGAGCTGTGTGGCTGCCAGGAAGATCCTGTGCATGACTCCCAGGGTGTTTCTCTGGTTCTTTCTCTCCCTGTGTGAGATTCCATGTATGAGTTGGGGAGAGGGCAACTCCTTTGCTCCAGAGCATCTTAGCCTCCTGGACAACACCTCTGGAGTTGAAGATGCACATCAGAACCACTGGGGTTCTGGGCTCTCAGAGAGAGGAAGAGCTTTGTCAAGGTCCCACTTTGAGCTTGTGGCAGAGCTGGAACAAGGAGCCAAGTCTCCCAACTCCAAGTCAGGTTTATGTTCCTCTCACTCACTGGCTCAAGCTCTGCCCAAACTGGAGGAAGGATTTTCTTCCTGGGAATCTTTGAGATGGGCCAGTGCTAAGACCTTGAGCCTAGGTTTGCAGGGACAGCGACATTTGTGAAGATCTAGTCAGGACAATTCACTGTGAAGTGTTCCACACATATAGGTGGGTGGTGAAGGGAGGGATGGAAATAACTCTGGGCTCAGAAGAAACTCGAGCGGCCAGGGTGTTGGCATGCTCCCCTCTCCCTGGGCCTAGGACTCCTACCTGCTTTGGAAAGAAGAGAAGGGTAACAGAGACCGAGCAGGCCCCATTAGCATCCCTCCTGTTCAGTAACCCCTAAGGGGCCTTGGTGAAAAAAGAGACCAGATCTTCAGGAAAGGCACATGCAGAGCCTCCAGGATGCCCTGCCATCCCTCCAAATCCCCAACCCCCACAGGCACGAGCCCCTCACCTGTTGATGGAACTGACGCTAGGCACGGTGTCATTGTCACACACCCGCTCTGCCAGCAGCCGGTCCCTGATCTCCCAGGCAAACATGGTGGGATTTTGGCGTTTATATTCAGCGATTTTTTCCACCACTTTGGGTGTGGCGACCTTTGGTTTGGATCCTCCAATTACCCCACGCTTGATGCTTCCTGTCTCATAATACCTAGGACCCAAAGAGAAAGAAGCTTAGCCATGAGGAACCAGTAAAGTGGATATTGGCAACAAAATAACGGGCTACTCTGGCCAGGAAACGTCCGGATCTGCACGTTCCAATACAGTAGCCACCAGCCAGATGCGGCTTTTGAACATTTGAAATATGGCTAGTCTGAATCAAAATGTGCTGTAAATATAAAATACACACCAAATTTTTAAAACTTAGTACCAAAAGAAGTAAAATATCTCAATAATTTTGATATTAGTTGTATGTTGAAATAACAATTTTTATATATTGAGTTAAAATATATAATTAAAATATAGTACCTCTTTTTTTTAACTTTTCTTAATGTGCTGCTGGAAAATTTTAAATTGCATACACAGCTCTCATAGTATTTCTTTTTTTTTTTTTCAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAATGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGGTTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTTATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCAGTCTCTCATTGTATTTCTATTGGACAGCACTGGCTAAGCATTAACAAAATTCTTTCACATTCATCTACCATTTTATAGTTTACAGAAAACTTTCGAGTCAGTTTTCCCATTTTATCTCCAACAGTTCTAAAGCACATAAATTGCTTTGAATTAATGAATGAGTGAATGAACAAATAAATGAATAGGTCCTGATCTACAGGTATAAAGCAGAGATTCATCAAGGTTAAACAGTTTTCCTAGGGTCACACAAGACCAAATGGGCAAGCTAGGGCTGTTGCCCACCCAGCCTCTTGAACTACAATTTCCCCAATAAGGTAGCTTACACTTTTGATTTGCCAGCTCTCCCAAGCCCTAGCACAATCTCCAGCATTGTATGAAACTGTCCCCTGAAATGCAACTTATTTTTCTGTAAGAGAAAAATAATAATCCTGGTGTAAAATTAAAAGGAATGTTGAATTGCAGAATTATCTGAAAATATCTGTTGTAAGTCAAAACTCAAGCAATCGGAAAAACCAACCACAAGTCACGGCAACTCTTCCAGGGACCTCCCCTGAGGTAAATGGCTGTTTCTAAGGACATTTCCATGCTATCAGCATTTGCTCATTAAGGAAAATAGGATGTCAGGGTTTTACAGTAAAACCAAGACCAAGAAGAAGAGTGTCATGAAACATCATTTCAGGGGGGGATAATTGACATAATTTCTTTTCTGAATCTGAGACATCACCAGACGTCTCTCTCAATATTTACAGAAGAATTCTTGATTTCCTTTTCCAAGGAAATTATCTTGCAGTTGAATCTGTTTTAAAAAACCAAAAAGACATTTTTTAAATGACTAATAATTTTGAAACCTAACAAGAGTTGATGATAGGTAAGGGAACGAGGTGATTCTGAGATGGGTAGAAAATGTTACCCAAGATGACTGGTCACATTTACAGAGATGCTGAAATTCTCAGCCTGGGTATGTTTGGGTAAGGCCAAGTTAGTGAATATCCTGAAAGAGATGAAATACTTTGGAAGCAGTGATGTGAAAGTGAAATGTCTGTTTTTCATTGAAAAGAGTGAGTCATTTACAAATTTTGACCATAAGGTAAAAACTCAACCTATCTTCCCTCTTTCTAAAAAATTGCTTTCAGCAATTTTTCTGTAATTGCCAAAAAATTATTACTCACAAACAACTTTTTAACAATATCCCAAAAAAACCAGATGGCTAGAAAAGCACCCTAAGTCAAGGCACACAGCAATCTCTGCAGTCTCCAATTGTCCTGTCAATTTTATAATGTAAAGCCAATTTTTACTATAATACAACTCACTATAATTCAGCCACAGCACCCTAAA
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Task1_train_12893
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This mutation occurs in PAX5 (paired box 5) on Chromosome 9. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Neurodevelopmental disorder
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TGAACTTGTTTCTTAAAAGGCAGTTCTAATTAGAGTGACATTTTGTCCACTGTGGTTCTTAGTTATGAAAATAATGAGCTATGAAATTCCAATTTATTGTTGACAACTTAAACGGTCAGGCACCGGAGCGGCGCGTAACTTCCGAGTGCCACTCTACCTAGTGACAAATCTATTCCGGGTGCCGGCTGGTCTCGGAAGCATCCCTGTCCCCCTCAATCTCCATGGGAGATTTGGAGGCTCCAGAGCACCAGAACATGAGGACCACATGTTTGGATGTCCCCTCTGAAAAAGGCTCAGTATCTTGCCCTGGGATTTCAAACAGCGAGCAAAATGTCGGCTCAGCAAAGATGTCTCAGCAAAAACAAAGAAAGGGCCTTCTTTCTCTCTCCCTCTCTCTCGGTACAATGAAGAGGCTCCACAAAAAGATATCTAGGAGCCTTTTGGTTCTAGAAGTCTGATGCTGAGATAGTCTAAAGTATTGTGCTCTCTCTCTCTTTCTCCTGTCTTGTCATTTATCTATCTCTTTCTATTTCTCTGCCTTTTTAAAATCACTCTCTTTTCTCTTTGTCTTCTTTTTCTCTTTTTCTTTTCTCTATCTCTCTGTCTTCGACTTTTCTTCTCTCGCTCCCATCCGCCTGCCTAAAACAACCACCTAACAAGAAAACCATGTTAATGTCCTGCAATCACCCCCTATCTCTGGGGTTCATTTGCTGAGTGCTAAACAGGAGTGAAGCCCACAGCCCCCACAGCTCAGGTAACCTGCACTGGGCTGGAGGATGCGGAATGAACCCTGGGATCAAGGTCCCCAAAGGAGCTGCCAGACCCCTGGTCCTAAAATTTCTTCCCTTGGCCTCAAACAAGCAGCCTCCCCAAGGTTATTAGAAGCTGTTGCTCCTTCCATCTGAGAGAATTTCTTGAATTCCAGCAGATGAAAGGGAAGGAGCCAGGAGAAAGTCAGAATGTCACTGACATACTTCAAAATATTTACCTCCTATTCAGGTGTCTGTGCTCAAACCATAATGCAAACTACAGGACAAAGGTTGTTTTCTGACCCGGGAAAAGAAATAGTGAGAAAGCACTGAACAGCTAAACCCAAGAAAGCTCCTGCCTGCCAGGGCAGACCTAAAACAAGATCACATGCCCAGAAACAAACCTGTGGCTTTGTTTTGGGGCTATGGTGAGACCCAGATGGTCTAGGGGTCCTTTAGGCGTCATTGCAACCCGGGTACTGCCTGGCTAGATAAACCTGTGTCAGTCACTTTGCCTGTCTAGGTTTGTTTTCTCATCTTAAAACGTGCTTCATTGGATCATGCGGAGGCTACTGAGAAAATAAACGGGAGTGCTAAAAGGCTGCACGGTCCTATGGGAGAAGCCTCATTGTTAGTATTTTGTTTGCAGCAAATCGCCAGGTCAAGTGGCAACTTTCAAATGTCATATTTGAAAGTTGGTGTTTGGGTTTTTTTTTTTTCCTCTTCTCTAATTTAATATATACTTTGGATGCTTGTCACTGCGATGGAAATAAAAACATAGAGAAGGAAAATACTGCAGCCCAACATAACAAGGTTGATAATAACCCAAAACTGAAAATAACAGCTGACTTTTAAAAGTGGAATATGCTTCCAAAAACATTAAAATGAAACATTGAACTCTGGTTATGTGATATTAAGTCCTACGCGGGGACCCAGGCTCACCTAGGATATATAAGGGAAATTCCCAAGAACGTCTTACTCTTGAGTTCTTTAGAACAATTCACCAGGCTTTCAGAAAACATGTCTTCCCTCCTGACTAAGTCACCCTATTCCACATGTCACTAGAGACAGGGGTTTCCAAGGGCTACTTGGAATTGGGGCTTTGCAGACTTTAAAGTGCTCTGCGTGTGAAACAAAATGCCACCATGATTCTCACTATGATACTGTCATATTGGACAGCTGCTGGGTCATGTTTTAGGTCTTTATTTGAAAGATCAAGGGAAGCCTCGAGCTACTGCCTTTACCTGCCAAGAATTTTGCTGACACAACCATGGCTGACCCGAAGCTGCCTGGAGATGTCGCAGGGCCTGACACCTTGATGAGCAAGTTCCACTATCCTCTGGCGGACTACATCCGGGAGTGGCCGTCCATTCACAAAAACCCCCCCAAGCTGATTCACTCCTCCATGTCCTGAAACAGATCAGAAACAAAAGGAAAGGGAAAGGGTAGTTAGAACCAGTCACATAGGAGAAGCACCGCTGTGAGGACCCAGAGCCCCTCTGATCACAAATGGCCGGCAGGCTGGATGTCTCGCGCCTGGAGTCCAATCGTGCAAACTACACGAAGTCCCCAGATTGCTTTTTAAAATTAATCTTAGCCTTGGTCCATCTGCAGCCAGTCTGTTGAGCTATTGACAGCAAACATCCCCATACTATTATTAGCATTTTCCCCGTAATTTTTCTAAACAATGAAATGTGTGAAGATCTCAATGTAAACGAAATGGGCACAACTTATTATGTGATGCTGAGGTCTAAGGAAGATCCTGGGGAGAAAATATGCATTAAAATACATCATATTTAAAGAGGAAAAAAATAAAACTCGTTTCCTTTTAACAAATGTCTTTAAAAGTGAAAAGAACAACTCCAATAAACTTATATCTCAGGGAATTTTGTTTTTAATCAGCAATCTAATTCAAGGGCTAAGGAATTTTTTAAAAATTTAACAGCACCTGCAGAGTACTGAGAAAAAAAAACAACCATTGCCTTGTTTAAAACCCTCCCTTTAAGAAGGTGAGGTTGACATGCAGACTTGACCACTGTACCTTCTCAAAGCACACAAAAGAAATGGGTCATAGCATCTTCTACACACAGCACATTCCACTCCACTGCACGGGGATTTGTTATAAAGGAGTTTCCCTGGAATTTTTACAATGTTTTGCAATTGACATATAGCTTTATTTTGGTCCAGGGAAAATAAAGAAACCTACAAAAGCCTCTGGATCCCAGGTTTTACAAGGGTCCTGGGATAGATTTTAAGTAAAAGGAGCCCGAGAAAGTGCCTCCTCCACCCTTCTCTTACATCAAGGTCCATCTGGAAGGACACAAGGACTCAAGTAAATGAAGAGCCAAACCAGTAAACACAGAGTGATCCGATGCAGCAACATCATTGACCTTATAGCTGTTAATTAGTCACTCACTGACGTTGCTGAAGACTGGAGCCCAAAGCCAAGTCAAAGCATTTATTGATGTTGCTGGCAGCTCAGAGGCAAAGGAAGGGGAAACTCCTCCTGAACCAAGACTGGACTAGGACTGGACCGTACAAGGGAAAGACCTCAAAGGTCTCACACACATATATACTCAACTCTAAAATATGAAATAGCCACCTCATCTCAGCTATTTCTCCCCAGTACTAAACTACAACCCAGGTTCATGAACCTCATCTGAAATAAAGGGAGCAAAAACCCCCATAATATAATGTATTTCCTAAAAACTGTCCAAGCAATCCACTCAAGTTTCCCATGAATATTTCCCAAAAACGTCCAGGCTCAGGCTTATTTCAAGGAAAAACACAATTTTATAGATAACTGAAGTACTTAGTTGCAGTTCTAAGCTGGATTTCTGATTTTCAAAATGATCTTTATTCAGTTTTGATTGTTCTAAAAGACATAAGAAAAAGGAAAACCATTCCAAATAGGATTTTGCAGTTAGAAACATAATTGCATAGTTTTTCTAAAACAGAAAGACTGCAGCCACCCTGGCCAAGAGCCTTCAGAAGGCTTTGTTCTGGGGCTGGGAACACCTATTTAAAAAGGTTGTACAGATCTTTCAAGAGCAGGCTGGATTTAAGTAAAAGAAAATAAATTCAAAATTGGTATAAGCTCATCTGGGAAAACAAAGGGCAGGCAAAGGAAGCTTAAACACCCAGCACACTTTTGATATGACCTGGGAGTCCAGGTATTATGGTCCATCTGCAATAGCCTGTTCTCTATGTCACTGACAATTGAGACTTTCTGCCCAAAACACAGTGGCAACCTTCAGAGGACTTAAATTCCAAAAGCAGTCCTGCAGGACATTTATGAGCACTGGGGGCTGTTTTGTATCATGGGAAAACCCTAAAGGTCTCCTAGA
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TGAACTTGTTTCTTAAAAGGCAGTTCTAATTAGAGTGACATTTTGTCCACTGTGGTTCTTAGTTATGAAAATAATGAGCTATGAAATTCCAATTTATTGTTGACAACTTAAACGGTCAGGCACCGGAGCGGCGCGTAACTTCCGAGTGCCACTCTACCTAGTGACAAATCTATTCCGGGTGCCGGCTGGTCTCGGAAGCATCCCTGTCCCCCTCAATCTCCATGGGAGATTTGGAGGCTCCAGAGCACCAGAACATGAGGACCACATGTTTGGATGTCCCCTCTGAAAAAGGCTCAGTATCTTGCCCTGGGATTTCAAACAGCGAGCAAAATGTCGGCTCAGCAAAGATGTCTCAGCAAAAACAAAGAAAGGGCCTTCTTTCTCTCTCCCTCTCTCTCGGTACAATGAAGAGGCTCCACAAAAAGATATCTAGGAGCCTTTTGGTTCTAGAAGTCTGATGCTGAGATAGTCTAAAGTATTGTGCTCTCTCTCTCTTTCTCCTGTCTTGTCATTTATCTATCTCTTTCTATTTCTCTGCCTTTTTAAAATCACTCTCTTTTCTCTTTGTCTTCTTTTTCTCTTTTTCTTTTCTCTATCTCTCTGTCTTCGACTTTTCTTCTCTCGCTCCCATCCGCCTGCCTAAAACAACCACCTAACAAGAAAACCATGTTAATGTCCTGCAATCACCCCCTATCTCTGGGGTTCATTTGCTGAGTGCTAAACAGGAGTGAAGCCCACAGCCCCCACAGCTCAGGTAACCTGCACTGGGCTGGAGGATGCGGAATGAACCCTGGGATCAAGGTCCCCAAAGGAGCTGCCAGACCCCTGGTCCTAAAATTTCTTCCCTTGGCCTCAAACAAGCAGCCTCCCCAAGGTTATTAGAAGCTGTTGCTCCTTCCATCTGAGAGAATTTCTTGAATTCCAGCAGATGAAAGGGAAGGAGCCAGGAGAAAGTCAGAATGTCACTGACATACTTCAAAATATTTACCTCCTATTCAGGTGTCTGTGCTCAAACCATAATGCAAACTACAGGACAAAGGTTGTTTTCTGACCCGGGAAAAGAAATAGTGAGAAAGCACTGAACAGCTAAACCCAAGAAAGCTCCTGCCTGCCAGGGCAGACCTAAAACAAGATCACATGCCCAGAAACAAACCTGTGGCTTTGTTTTGGGGCTATGGTGAGACCCAGATGGTCTAGGGGTCCTTTAGGCGTCATTGCAACCCGGGTACTGCCTGGCTAGATAAACCTGTGTCAGTCACTTTGCCTGTCTAGGTTTGTTTTCTCATCTTAAAACGTGCTTCATTGGATCATGCGGAGGCTACTGAGAAAATAAACGGGAGTGCTAAAAGGCTGCACGGTCCTATGGGAGAAGCCTCATTGTTAGTATTTTGTTTGCAGCAAATCGCCAGGTCAAGTGGCAACTTTCAAATGTCATATTTGAAAGTTGGTGTTTGGGTTTTTTTTTTTTCCTCTTCTCTAATTTAATATATACTTTGGATGCTTGTCACTGCGATGGAAATAAAAACATAGAGAAGGAAAATACTGCAGCCCAACATAACAAGGTTGATAATAACCCAAAACTGAAAATAACAGCTGACTTTTAAAAGTGGAATATGCTTCCAAAAACATTAAAATGAAACATTGAACTCTGGTTATGTGATATTAAGTCCTACGCGGGGACCCAGGCTCACCTAGGATATATAAGGGAAATTCCCAAGAACGTCTTACTCTTGAGTTCTTTAGAACAATTCACCAGGCTTTCAGAAAACATGTCTTCCCTCCTGACTAAGTCACCCTATTCCACATGTCACTAGAGACAGGGGTTTCCAAGGGCTACTTGGAATTGGGGCTTTGCAGACTTTAAAGTGCTCTGCGTGTGAAACAAAATGCCACCATGATTCTCACTATGATACTGTCATATTGGACAGCTGCTGGGTCATGTTTTAGGTCTTTATTTGAAAGATCAAGGGAAGCCTCGAGCTACTGCCTTTACCTGCCAAGAATTTTGCTGACACAACCATGGCTGACCCGAAGCTGCCTGGAGATGTGGCAGGGCCTGACACCTTGATGAGCAAGTTCCACTATCCTCTGGCGGACTACATCCGGGAGTGGCCGTCCATTCACAAAAACCCCCCCAAGCTGATTCACTCCTCCATGTCCTGAAACAGATCAGAAACAAAAGGAAAGGGAAAGGGTAGTTAGAACCAGTCACATAGGAGAAGCACCGCTGTGAGGACCCAGAGCCCCTCTGATCACAAATGGCCGGCAGGCTGGATGTCTCGCGCCTGGAGTCCAATCGTGCAAACTACACGAAGTCCCCAGATTGCTTTTTAAAATTAATCTTAGCCTTGGTCCATCTGCAGCCAGTCTGTTGAGCTATTGACAGCAAACATCCCCATACTATTATTAGCATTTTCCCCGTAATTTTTCTAAACAATGAAATGTGTGAAGATCTCAATGTAAACGAAATGGGCACAACTTATTATGTGATGCTGAGGTCTAAGGAAGATCCTGGGGAGAAAATATGCATTAAAATACATCATATTTAAAGAGGAAAAAAATAAAACTCGTTTCCTTTTAACAAATGTCTTTAAAAGTGAAAAGAACAACTCCAATAAACTTATATCTCAGGGAATTTTGTTTTTAATCAGCAATCTAATTCAAGGGCTAAGGAATTTTTTAAAAATTTAACAGCACCTGCAGAGTACTGAGAAAAAAAAACAACCATTGCCTTGTTTAAAACCCTCCCTTTAAGAAGGTGAGGTTGACATGCAGACTTGACCACTGTACCTTCTCAAAGCACACAAAAGAAATGGGTCATAGCATCTTCTACACACAGCACATTCCACTCCACTGCACGGGGATTTGTTATAAAGGAGTTTCCCTGGAATTTTTACAATGTTTTGCAATTGACATATAGCTTTATTTTGGTCCAGGGAAAATAAAGAAACCTACAAAAGCCTCTGGATCCCAGGTTTTACAAGGGTCCTGGGATAGATTTTAAGTAAAAGGAGCCCGAGAAAGTGCCTCCTCCACCCTTCTCTTACATCAAGGTCCATCTGGAAGGACACAAGGACTCAAGTAAATGAAGAGCCAAACCAGTAAACACAGAGTGATCCGATGCAGCAACATCATTGACCTTATAGCTGTTAATTAGTCACTCACTGACGTTGCTGAAGACTGGAGCCCAAAGCCAAGTCAAAGCATTTATTGATGTTGCTGGCAGCTCAGAGGCAAAGGAAGGGGAAACTCCTCCTGAACCAAGACTGGACTAGGACTGGACCGTACAAGGGAAAGACCTCAAAGGTCTCACACACATATATACTCAACTCTAAAATATGAAATAGCCACCTCATCTCAGCTATTTCTCCCCAGTACTAAACTACAACCCAGGTTCATGAACCTCATCTGAAATAAAGGGAGCAAAAACCCCCATAATATAATGTATTTCCTAAAAACTGTCCAAGCAATCCACTCAAGTTTCCCATGAATATTTCCCAAAAACGTCCAGGCTCAGGCTTATTTCAAGGAAAAACACAATTTTATAGATAACTGAAGTACTTAGTTGCAGTTCTAAGCTGGATTTCTGATTTTCAAAATGATCTTTATTCAGTTTTGATTGTTCTAAAAGACATAAGAAAAAGGAAAACCATTCCAAATAGGATTTTGCAGTTAGAAACATAATTGCATAGTTTTTCTAAAACAGAAAGACTGCAGCCACCCTGGCCAAGAGCCTTCAGAAGGCTTTGTTCTGGGGCTGGGAACACCTATTTAAAAAGGTTGTACAGATCTTTCAAGAGCAGGCTGGATTTAAGTAAAAGAAAATAAATTCAAAATTGGTATAAGCTCATCTGGGAAAACAAAGGGCAGGCAAAGGAAGCTTAAACACCCAGCACACTTTTGATATGACCTGGGAGTCCAGGTATTATGGTCCATCTGCAATAGCCTGTTCTCTATGTCACTGACAATTGAGACTTTCTGCCCAAAACACAGTGGCAACCTTCAGAGGACTTAAATTCCAAAAGCAGTCCTGCAGGACATTTATGAGCACTGGGGGCTGTTTTGTATCATGGGAAAACCCTAAAGGTCTCCTAGA
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Task1_train_12894
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Given this context: Chromosome 9, gene GRHPR (glyoxylate and hydroxypyruvate reductase) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Primary hyperoxaluria, type II
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CCGGCTGGGGCAGGCTTGGAGTTTTGGGGAGTCTCGGAGAAAGTTCTCTGGGGCCCAGTTCTCCTCTTAAGACGACGCTGGGACCTGCAGTTCCGGCTTTGGAGAGGGGAGATTGCCCCTGAGGCAAGGTCCAGGCTAATTCTCCACGCTCCCACAGGACATGTGGGGTCAGGGACATGGCGGTCACTGACCAGGCCCTTGGACGTTTGGCAGGGGGCTTTGATGACTCTTCTTCTTTATATTTACTTATCTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGCTGCACAGGCTGGAGTGCAGTGGCTCGATCGATCGTGGCTTACTGCAGCCTCGACTTCTTGGGCCCAATCAGTTCTCCCACCTGAGCCTCCCGAGTAGCTGGGACTACAGGCGCAAACAATCACTACCGGCTAATTTTCTGATTTTTTTTTTGTAGAGATGGGGGTCTCACTCTGTTGCTCAGGCTGGTCTCAAATTCCTGGGCTCAAGCAATCCTCTTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTTAGTCACCATGACTGGCCTGAGGACCCTTTAATTTTTAAGACAGGGTCTCACTCTCATCCAGGCTGGAGTGCAGTGGCACCATTATACCTCACTGCAGCCTCAACCTCCTGGACTCAAGAGATACTTCCACCTCAGCCTCCCAAGTAGCTGGGACTACTACAGGCATGCACTACCATGCCTGGCTAATTTTTTATTTTTTTCAAAGACGAGGGTCTCACTGTGTTGCCCAGGCTGGTCCTGAACTCCTGTACGAAGGGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCTGGCCCACCCTTGCTAAATGGAACCCTTTTTGTGGGCCAACCTTGCCAGGTGCTTCATATACATAAACTTTTAATCCTGGTAGCACTGTGAAGTCAGTATTATAATTCCCATTGCACAGATTAAAAACTGGAGGCTGGACTTAGGGTTAAGTTTCTTCCCAAAGCCATGCAGCTCCCAGGTGGAGGAGCTGGGGCTTGTACTCAGAAGTGTCTGACTGCTGTCTGATCACTGCATTTGATCAGGTTTGTGTTTCCAATGTTAGATAGGAAGAGGATGCAATCCAGCCTCAGCAGCCAGTTCTAGGGGCATATGAGATTTTCAAATTTTGTTCACTGCAACAAAACCTTTGCCAAGGACCCACTTTGTACTGAGCAGGAGAAGGTGGAAGGCAGCAACCGCGCCCATGGTAACAGTAGCTCACGCTGTACCCTGCTCATGGGGAGGTGGATGAAAGGTGGTCAGTGCCCTGGGCTCAGTCAGGAGGTGCAAGTAGCTATCCTGTGTCCTGCCACATAGAGGCTCCACACGTGCTGACTGTACTGAATTCCATGGCAAGGGCCAGGAGGCACCGTGCATCACTGGGACAAATATCTGGTTGCTGTGAGCTGCCGTGGAAGCGTTGGGTGGCCTTGACCTTATCTTTCCTGGCCCAGTCCAACTATGAGAGTTTTCTATTTCATGGACTCCACGGACAGGAAGAGATGCAACAGGCCATTGAATCCAGGCCCCCCACCTGAGGCACACCCTGCCCCCCACGGGCCTTCCCTGCAGTTGGCCGCCTGCTTGGCCGCCCAGCCCCTGTGAATGTGGGAAAGCTCTTCTCTGTGCTGACCTGAGAGCTGTCCCCATGCCTTCCCCCTTGCAGCTTAGGCTCTGCTGGGGGGCCCCTCAGCCCTTCACCTGTCACCTGCTGTCTCGGGACAGTTCTGAGACCACCCCTGCCTGACCCTGCCTCCCCTCAGCCAGCCCCGGGCAGCCTGAGGCCAGGGCCATCAGAGGCCAGGATTCCCAGCTGGGAGGGGCGGGGACAGGTGTGCGGCTCCTGCTTCTCCTGAGGGCCTCCCTTTCCCCGCAGCTGTGAGGTGGAGCAGTGGGACTCGGATGAGCCCATCCCTGCCAAGGAGCTAGAGCGAGGTGTGGCGGGGGCCCACGGCCTGCTCTGCCTCCTCTCCGACCACGTGGACAAGAGGATCCTGGATGCTGCAGGTGCACACTGGGTGGGCAGGGGACTTGAGGGTGGCTTGGCCCTGTGGGCCCCTCAGCCTGTGCTGCTGGCTCCTGGCTGCTCTGCAGTGCTGTCTGGGTTCTGAGGGCGTTTCCTGCGATACCAGGCCCGAGCGGGCAGATAGCTTGCTCTGGCACAGGCACTGCCCCTCCCTCCTGCTGTGAACCCCTTGGCGGGGGACCCTAGGAGGGCAAAGACCGCGGTGTGGAGACTGTGGGTGTGGGGAAGTGCATCCAAGGCCCTGGGTTCTCCAGCCCTGCCACAACCTTGCTCTGTGACCTCCAGCAAGACCCTGCCCCTTCTGGGCGTGTGCGTAGTATGAGGGAGGACCTAGCTCAGTGCCAAGCCCCAGCAGGATGTCTTTCCTCAACCGCAGCCACGGGTCTCAGCCCATGGAAGAATAAACCTCCCCCTGTGAGGCTGTTGTGACAGTTTTGAGAAAAGGTTCAGACTCAGAGGCTGCCAGATGGGAAGGGACCCTTGTGAGTCAGTGCTGAGCCGCCCCACATCCTGGCCTTGGCCTGGAAGCTTTGTGGTGTCCTGCTTGCAGGAGAGGGTAGAGAGGGTCACGTCCCAGCCACCTTCTTGGCACTCTCAGAGGTGTCCATGGGGGAGGCCCCAGCGTGGCTAAAGAAGACCGGAGGCCTCGCTGGGTGGACAGTCCAGTGGGTAAGAGCGGGGCCTTGGTGGCAGAGGCCCTGAGGTGAACCCGGCTCTGCCTGTGACTGAGCCAGGCCACTTAACCTCCCTGAACTGCAGTGTCTGAGGCTGTCAAAGGGGATTATTCAGAGTTTTAACTGAAGAACAGAGATGTCAGCCTCTTATTCTAAGAAAACAATAATAAGCGGTGTCCCCATGATAGTCCCCAGTGCTGTGGCTTTGAGTTCCTCGAGGAAAGATACTAACAATGCACTTTCTGCACAACAGGGGCCAATCTCAAAGTCATCAGCACCATGTCTGTGGGCATCGACCACTTGGCTTTGGATGAAATCAAGAAGCGGTAACTGCAGCTTGGGATCTGGAGGGGGCCTAGAGAGAGGGGTGGCTATGAGAGAAAGAAGAGCTGTTGATTTGTTTTTACTGCATATCCCTCGGCCATTCAGGGAGAATGTGAGGTGGCTGATGATAGAATCTGTCCACATGTGCACAGGTCAGTTACAATAAACCCCAGCAGTCAGAAACAGTGGGTAACTTCTGTGTAGGTGGCACCCTTTCACATTCATTATCTTTTTTGATCCCCACAACAATACCTTGAAGTAGCAAAGGCAGGTGTTATTCTTTCTGTTTCAGATGAGGAAATTCAGAAAGGTTAAGTTACTTGTTCAGTCCCTGAACCCTGATCTTCCATCTTCATATCCTTCCAAAGTGGGAGATAATCTAAATAGGAATGAGGACTGCCCGTTTTTGAGTGCTCATTTATAGTTCTGAGCTTCCTGGCAGGCAGATCAAAGAGGGAGCAAAGTAACTCCATGGAAATGTCCCAGCAGTAGACATTGGTAAATATGGTTGAGGCTGATGTTACCACCAGATGTCTGATTCGTAGTGGGATCCGAGTTGGCTACACCCCAGATGTCCTGACAGATACCACCGCCGAACTCGCAGTCTCCCTGCTACTTACCACCTGCCGCCGGTTGCCGGAGGCCATCGAGGAAGTGAAGAAGTAAGTGAACGCAGACCAGGTGCGGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGCGGATCATGAGGTTAGGAGTTCGAGACCAGTCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAAAAAATTAGCTGGGTGTGGTGGTGGGTCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATGTGAACCCAGGAGACAGAGGTTGCAGTGAGCTGAGATCACACCATTGCACTCCAGCCCAGGTGACGGTGTGAGACTCTGTCTCAAAAAAAAAAAGAAAAATAAGTGAACGCCTGGCAGGAACGTTGGCTCTGCTCAGCACTGGA
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CCGGCTGGGGCAGGCTTGGAGTTTTGGGGAGTCTCGGAGAAAGTTCTCTGGGGCCCAGTTCTCCTCTTAAGACGACGCTGGGACCTGCAGTTCCGGCTTTGGAGAGGGGAGATTGCCCCTGAGGCAAGGTCCAGGCTAATTCTCCACGCTCCCACAGGACATGTGGGGTCAGGGACATGGCGGTCACTGACCAGGCCCTTGGACGTTTGGCAGGGGGCTTTGATGACTCTTCTTCTTTATATTTACTTATCTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGCTGCACAGGCTGGAGTGCAGTGGCTCGATCGATCGTGGCTTACTGCAGCCTCGACTTCTTGGGCCCAATCAGTTCTCCCACCTGAGCCTCCCGAGTAGCTGGGACTACAGGCGCAAACAATCACTACCGGCTAATTTTCTGATTTTTTTTTTGTAGAGATGGGGGTCTCACTCTGTTGCTCAGGCTGGTCTCAAATTCCTGGGCTCAAGCAATCCTCTTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTTAGTCACCATGACTGGCCTGAGGACCCTTTAATTTTTAAGACAGGGTCTCACTCTCATCCAGGCTGGAGTGCAGTGGCACCATTATACCTCACTGCAGCCTCAACCTCCTGGACTCAAGAGATACTTCCACCTCAGCCTCCCAAGTAGCTGGGACTACTACAGGCATGCACTACCATGCCTGGCTAATTTTTTATTTTTTTCAAAGACGAGGGTCTCACTGTGTTGCCCAGGCTGGTCCTGAACTCCTGTACGAAGGGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCTGGCCCACCCTTGCTAAATGGAACCCTTTTTGTGGGCCAACCTTGCCAGGTGCTTCATATACATAAACTTTTAATCCTGGTAGCACTGTGAAGTCAGTATTATAATTCCCATTGCACAGATTAAAAACTGGAGGCTGGACTTAGGGTTAAGTTTCTTCCCAAAGCCATGCAGCTCCCAGGTGGAGGAGCTGGGGCTTGTACTCAGAAGTGTCTGACTGCTGTCTGATCACTGCATTTGATCAGGTTTGTGTTTCCAATGTTAGATAGGAAGAGGATGCAATCCAGCCTCAGCAGCCAGTTCTAGGGGCATATGAGATTTTCAAATTTTGTTCACTGCAACAAAACCTTTGCCAAGGACCCACTTTGTACTGAGCAGGAGAAGGTGGAAGGCAGCAACCGCGCCCATGGTAACAGTAGCTCACGCTGTACCCTGCTCATGGGGAGGTGGATGAAAGGTGGTCAGTGCCCTGGGCTCAGTCAGGAGGTGCAAGTAGCTATCCTGTGTCCTGCCACATAGAGGCTCCACACGTGCTGACTGTACTGAATTCCATGGCAAGGGCCAGGAGGCACCGTGCATCACTGGGACAAATATCTGGTTGCTGTGAGCTGCCGTGGAAGCGTTGGGTGGCCTTGACCTTATCTTTCCTGGCCCAGTCCAACTATGAGAGTTTTCTATTTCATGGACTCCACGGACAGGAAGAGATGCAACAGGCCATTGAATCCAGGCCCCCCACCTGAGGCACACCCTGCCCCCCACGGGCCTTCCCTGCAGTTGGCCGCCTGCTTGGCCGCCCAGCCCCTGTGAATGTGGGAAAGCTCTTCTCTGTGCTGACCTGAGAGCTGTCCCCATGCCTTCCCCCTTGCAGCTTAGGCTCTGCTGGGGGGCCCCTCAGCCCTTCACCTGTCACCTGCTGTCTCGGGACAGTTCTGAGACCACCCCTGCCTGACCCTGCCTCCCCTCAGCCAGCCCCGGGCAGCCTGAGGCCAGGGCCATCAGAGGCCAGGATTCCCAGCTGGGAGGGGCGGGGACAGGTGTGCGGCTCCTGCTTCTCCTGAGGGCCTCCCTTTCCCCGCAGCTGTGAGGTGGAGCAGTGGGACTCGGATGAGCCCATCCCTGCCAAGGAGCTAGAGCGAGGTGTGGCGGGGGCCCACGGCCTGCTCTGCCTCCTCTCCGACCACGTGGACAAGAGGATCCCGGATGCTGCAGGTGCACACTGGGTGGGCAGGGGACTTGAGGGTGGCTTGGCCCTGTGGGCCCCTCAGCCTGTGCTGCTGGCTCCTGGCTGCTCTGCAGTGCTGTCTGGGTTCTGAGGGCGTTTCCTGCGATACCAGGCCCGAGCGGGCAGATAGCTTGCTCTGGCACAGGCACTGCCCCTCCCTCCTGCTGTGAACCCCTTGGCGGGGGACCCTAGGAGGGCAAAGACCGCGGTGTGGAGACTGTGGGTGTGGGGAAGTGCATCCAAGGCCCTGGGTTCTCCAGCCCTGCCACAACCTTGCTCTGTGACCTCCAGCAAGACCCTGCCCCTTCTGGGCGTGTGCGTAGTATGAGGGAGGACCTAGCTCAGTGCCAAGCCCCAGCAGGATGTCTTTCCTCAACCGCAGCCACGGGTCTCAGCCCATGGAAGAATAAACCTCCCCCTGTGAGGCTGTTGTGACAGTTTTGAGAAAAGGTTCAGACTCAGAGGCTGCCAGATGGGAAGGGACCCTTGTGAGTCAGTGCTGAGCCGCCCCACATCCTGGCCTTGGCCTGGAAGCTTTGTGGTGTCCTGCTTGCAGGAGAGGGTAGAGAGGGTCACGTCCCAGCCACCTTCTTGGCACTCTCAGAGGTGTCCATGGGGGAGGCCCCAGCGTGGCTAAAGAAGACCGGAGGCCTCGCTGGGTGGACAGTCCAGTGGGTAAGAGCGGGGCCTTGGTGGCAGAGGCCCTGAGGTGAACCCGGCTCTGCCTGTGACTGAGCCAGGCCACTTAACCTCCCTGAACTGCAGTGTCTGAGGCTGTCAAAGGGGATTATTCAGAGTTTTAACTGAAGAACAGAGATGTCAGCCTCTTATTCTAAGAAAACAATAATAAGCGGTGTCCCCATGATAGTCCCCAGTGCTGTGGCTTTGAGTTCCTCGAGGAAAGATACTAACAATGCACTTTCTGCACAACAGGGGCCAATCTCAAAGTCATCAGCACCATGTCTGTGGGCATCGACCACTTGGCTTTGGATGAAATCAAGAAGCGGTAACTGCAGCTTGGGATCTGGAGGGGGCCTAGAGAGAGGGGTGGCTATGAGAGAAAGAAGAGCTGTTGATTTGTTTTTACTGCATATCCCTCGGCCATTCAGGGAGAATGTGAGGTGGCTGATGATAGAATCTGTCCACATGTGCACAGGTCAGTTACAATAAACCCCAGCAGTCAGAAACAGTGGGTAACTTCTGTGTAGGTGGCACCCTTTCACATTCATTATCTTTTTTGATCCCCACAACAATACCTTGAAGTAGCAAAGGCAGGTGTTATTCTTTCTGTTTCAGATGAGGAAATTCAGAAAGGTTAAGTTACTTGTTCAGTCCCTGAACCCTGATCTTCCATCTTCATATCCTTCCAAAGTGGGAGATAATCTAAATAGGAATGAGGACTGCCCGTTTTTGAGTGCTCATTTATAGTTCTGAGCTTCCTGGCAGGCAGATCAAAGAGGGAGCAAAGTAACTCCATGGAAATGTCCCAGCAGTAGACATTGGTAAATATGGTTGAGGCTGATGTTACCACCAGATGTCTGATTCGTAGTGGGATCCGAGTTGGCTACACCCCAGATGTCCTGACAGATACCACCGCCGAACTCGCAGTCTCCCTGCTACTTACCACCTGCCGCCGGTTGCCGGAGGCCATCGAGGAAGTGAAGAAGTAAGTGAACGCAGACCAGGTGCGGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGCGGATCATGAGGTTAGGAGTTCGAGACCAGTCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAAAAAATTAGCTGGGTGTGGTGGTGGGTCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATGTGAACCCAGGAGACAGAGGTTGCAGTGAGCTGAGATCACACCATTGCACTCCAGCCCAGGTGACGGTGTGAGACTCTGTCTCAAAAAAAAAAAGAAAAATAAGTGAACGCCTGGCAGGAACGTTGGCTCTGCTCAGCACTGGA
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Task1_train_12895
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A mutation in GRHPR (glyoxylate and hydroxypyruvate reductase), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Primary hyperoxaluria, type II
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AGGTGGAGGAGCTGGGGCTTGTACTCAGAAGTGTCTGACTGCTGTCTGATCACTGCATTTGATCAGGTTTGTGTTTCCAATGTTAGATAGGAAGAGGATGCAATCCAGCCTCAGCAGCCAGTTCTAGGGGCATATGAGATTTTCAAATTTTGTTCACTGCAACAAAACCTTTGCCAAGGACCCACTTTGTACTGAGCAGGAGAAGGTGGAAGGCAGCAACCGCGCCCATGGTAACAGTAGCTCACGCTGTACCCTGCTCATGGGGAGGTGGATGAAAGGTGGTCAGTGCCCTGGGCTCAGTCAGGAGGTGCAAGTAGCTATCCTGTGTCCTGCCACATAGAGGCTCCACACGTGCTGACTGTACTGAATTCCATGGCAAGGGCCAGGAGGCACCGTGCATCACTGGGACAAATATCTGGTTGCTGTGAGCTGCCGTGGAAGCGTTGGGTGGCCTTGACCTTATCTTTCCTGGCCCAGTCCAACTATGAGAGTTTTCTATTTCATGGACTCCACGGACAGGAAGAGATGCAACAGGCCATTGAATCCAGGCCCCCCACCTGAGGCACACCCTGCCCCCCACGGGCCTTCCCTGCAGTTGGCCGCCTGCTTGGCCGCCCAGCCCCTGTGAATGTGGGAAAGCTCTTCTCTGTGCTGACCTGAGAGCTGTCCCCATGCCTTCCCCCTTGCAGCTTAGGCTCTGCTGGGGGGCCCCTCAGCCCTTCACCTGTCACCTGCTGTCTCGGGACAGTTCTGAGACCACCCCTGCCTGACCCTGCCTCCCCTCAGCCAGCCCCGGGCAGCCTGAGGCCAGGGCCATCAGAGGCCAGGATTCCCAGCTGGGAGGGGCGGGGACAGGTGTGCGGCTCCTGCTTCTCCTGAGGGCCTCCCTTTCCCCGCAGCTGTGAGGTGGAGCAGTGGGACTCGGATGAGCCCATCCCTGCCAAGGAGCTAGAGCGAGGTGTGGCGGGGGCCCACGGCCTGCTCTGCCTCCTCTCCGACCACGTGGACAAGAGGATCCTGGATGCTGCAGGTGCACACTGGGTGGGCAGGGGACTTGAGGGTGGCTTGGCCCTGTGGGCCCCTCAGCCTGTGCTGCTGGCTCCTGGCTGCTCTGCAGTGCTGTCTGGGTTCTGAGGGCGTTTCCTGCGATACCAGGCCCGAGCGGGCAGATAGCTTGCTCTGGCACAGGCACTGCCCCTCCCTCCTGCTGTGAACCCCTTGGCGGGGGACCCTAGGAGGGCAAAGACCGCGGTGTGGAGACTGTGGGTGTGGGGAAGTGCATCCAAGGCCCTGGGTTCTCCAGCCCTGCCACAACCTTGCTCTGTGACCTCCAGCAAGACCCTGCCCCTTCTGGGCGTGTGCGTAGTATGAGGGAGGACCTAGCTCAGTGCCAAGCCCCAGCAGGATGTCTTTCCTCAACCGCAGCCACGGGTCTCAGCCCATGGAAGAATAAACCTCCCCCTGTGAGGCTGTTGTGACAGTTTTGAGAAAAGGTTCAGACTCAGAGGCTGCCAGATGGGAAGGGACCCTTGTGAGTCAGTGCTGAGCCGCCCCACATCCTGGCCTTGGCCTGGAAGCTTTGTGGTGTCCTGCTTGCAGGAGAGGGTAGAGAGGGTCACGTCCCAGCCACCTTCTTGGCACTCTCAGAGGTGTCCATGGGGGAGGCCCCAGCGTGGCTAAAGAAGACCGGAGGCCTCGCTGGGTGGACAGTCCAGTGGGTAAGAGCGGGGCCTTGGTGGCAGAGGCCCTGAGGTGAACCCGGCTCTGCCTGTGACTGAGCCAGGCCACTTAACCTCCCTGAACTGCAGTGTCTGAGGCTGTCAAAGGGGATTATTCAGAGTTTTAACTGAAGAACAGAGATGTCAGCCTCTTATTCTAAGAAAACAATAATAAGCGGTGTCCCCATGATAGTCCCCAGTGCTGTGGCTTTGAGTTCCTCGAGGAAAGATACTAACAATGCACTTTCTGCACAACAGGGGCCAATCTCAAAGTCATCAGCACCATGTCTGTGGGCATCGACCACTTGGCTTTGGATGAAATCAAGAAGCGGTAACTGCAGCTTGGGATCTGGAGGGGGCCTAGAGAGAGGGGTGGCTATGAGAGAAAGAAGAGCTGTTGATTTGTTTTTACTGCATATCCCTCGGCCATTCAGGGAGAATGTGAGGTGGCTGATGATAGAATCTGTCCACATGTGCACAGGTCAGTTACAATAAACCCCAGCAGTCAGAAACAGTGGGTAACTTCTGTGTAGGTGGCACCCTTTCACATTCATTATCTTTTTTGATCCCCACAACAATACCTTGAAGTAGCAAAGGCAGGTGTTATTCTTTCTGTTTCAGATGAGGAAATTCAGAAAGGTTAAGTTACTTGTTCAGTCCCTGAACCCTGATCTTCCATCTTCATATCCTTCCAAAGTGGGAGATAATCTAAATAGGAATGAGGACTGCCCGTTTTTGAGTGCTCATTTATAGTTCTGAGCTTCCTGGCAGGCAGATCAAAGAGGGAGCAAAGTAACTCCATGGAAATGTCCCAGCAGTAGACATTGGTAAATATGGTTGAGGCTGATGTTACCACCAGATGTCTGATTCGTAGTGGGATCCGAGTTGGCTACACCCCAGATGTCCTGACAGATACCACCGCCGAACTCGCAGTCTCCCTGCTACTTACCACCTGCCGCCGGTTGCCGGAGGCCATCGAGGAAGTGAAGAAGTAAGTGAACGCAGACCAGGTGCGGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGCGGATCATGAGGTTAGGAGTTCGAGACCAGTCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAAAAAATTAGCTGGGTGTGGTGGTGGGTCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATGTGAACCCAGGAGACAGAGGTTGCAGTGAGCTGAGATCACACCATTGCACTCCAGCCCAGGTGACGGTGTGAGACTCTGTCTCAAAAAAAAAAAGAAAAATAAGTGAACGCCTGGCAGGAACGTTGGCTCTGCTCAGCACTGGATCCTGATCACTGTGCCAGTCCAGCCCACGCATAGTCCCTGACCCCAGGTGTGCCCCATTGAGTGAGGACTCAGCTAAAATAAAGCACAAAGCAGAGCTGCAATAAGGGCAGAAAGGGAAGTGGTGAGAGAAGAGGATGAGGGAGGACAAACAAGTTCTGCTGGTGGGTGAGGGCTGGCAGGGAGAGTGTGGATCAGGGAGGGCTTCACAGAATAAGTAGCAGGTGGGCGTCCGCTTGAGTCCTGAAAGCTGCAGGTCCACCATCCCTTAGATCCCAAAATCTAAAAAGCTCGGACAGCTGAAAGTTCTTTCATACTAACAGGAGACTATTTAAGGCTTTTATTTCTCCCATTTAATGTGACTTTCCTAAGTTTTGCTGCAGATGTAACACTTTTAAAACAGGCTGCTGCCCAGACACTGCAGAGGGTGATGTGTGGAATCTACCACGTGCGCCATGCTGCCTTTCTAAAGGCCAAACAGTTTTAAAATCTAGCCTGAAGGTTTCAGATCAGGGATTTCGGCCTGTATATCAAGAGTTAGAGTTGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATTGTTTGAGCCTCAGGAGTTGGAGAACAGCTTGGGCAATGTGGCAAAAGTCTGTCTCTACAAAAAATACAAAAATTAGGCAGGCGTGGTGTTACACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCTCACTGTCCTGTCTGGGGAGTCATCACATCTACTGGAGG
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AGGTGGAGGAGCTGGGGCTTGTACTCAGAAGTGTCTGACTGCTGTCTGATCACTGCATTTGATCAGGTTTGTGTTTCCAATGTTAGATAGGAAGAGGATGCAATCCAGCCTCAGCAGCCAGTTCTAGGGGCATATGAGATTTTCAAATTTTGTTCACTGCAACAAAACCTTTGCCAAGGACCCACTTTGTACTGAGCAGGAGAAGGTGGAAGGCAGCAACCGCGCCCATGGTAACAGTAGCTCACGCTGTACCCTGCTCATGGGGAGGTGGATGAAAGGTGGTCAGTGCCCTGGGCTCAGTCAGGAGGTGCAAGTAGCTATCCTGTGTCCTGCCACATAGAGGCTCCACACGTGCTGACTGTACTGAATTCCATGGCAAGGGCCAGGAGGCACCGTGCATCACTGGGACAAATATCTGGTTGCTGTGAGCTGCCGTGGAAGCGTTGGGTGGCCTTGACCTTATCTTTCCTGGCCCAGTCCAACTATGAGAGTTTTCTATTTCATGGACTCCACGGACAGGAAGAGATGCAACAGGCCATTGAATCCAGGCCCCCCACCTGAGGCACACCCTGCCCCCCACGGGCCTTCCCTGCAGTTGGCCGCCTGCTTGGCCGCCCAGCCCCTGTGAATGTGGGAAAGCTCTTCTCTGTGCTGACCTGAGAGCTGTCCCCATGCCTTCCCCCTTGCAGCTTAGGCTCTGCTGGGGGGCCCCTCAGCCCTTCACCTGTCACCTGCTGTCTCGGGACAGTTCTGAGACCACCCCTGCCTGACCCTGCCTCCCCTCAGCCAGCCCCGGGCAGCCTGAGGCCAGGGCCATCAGAGGCCAGGATTCCCAGCTGGGAGGGGCGGGGACAGGTGTGCGGCTCCTGCTTCTCCTGAGGGCCTCCCTTTCCCCGCAGCTGTGAGGTGGAGCAGTGGGACTCGGATGAGCCCATCCCTGCCAAGGAGCTAGAGCGAGGTGTGGCGGGGGCCCACGGCCTGCTCTGCCTCCTCTCCGACCACGTGGACAAGAGGATCCTGGATGCTGCAGGTGCACACTGGGTGGGCAGGGGACTTGAGGGTGGCTTGGCCCTGTGGGCCCCTCAGCCTGTGCTGCTGGCTCCTGGCTGCTCTGCAGTGCTGTCTGGGTTCTGAGGGCGTTTCCTGCGATACCAGGCCCGAGCGGGCAGATAGCTTGCTCTGGCACAGGCACTGCCCCTCCCTCCTGCTGTGAACCCCTTGGCGGGGGACCCTAGGAGGGCAAAGACCGCGGTGTGGAGACTGTGGGTGTGGGGAAGTGCATCCAAGGCCCTGGGTTCTCCAGCCCTGCCACAACCTTGCTCTGTGACCTCCAGCAAGACCCTGCCCCTTCTGGGCGTGTGCGTAGTATGAGGGAGGACCTAGCTCAGTGCCAAGCCCCAGCAGGATGTCTTTCCTCAACCGCAGCCACGGGTCTCAGCCCATGGAAGAATAAACCTCCCCCTGTGAGGCTGTTGTGACAGTTTTGAGAAAAGGTTCAGACTCAGAGGCTGCCAGATGGGAAGGGACCCTTGTGAGTCAGTGCTGAGCCGCCCCACATCCTGGCCTTGGCCTGGAAGCTTTGTGGTGTCCTGCTTGCAGGAGAGGGTAGAGAGGGTCACGTCCCAGCCACCTTCTTGGCACTCTCAGAGGTGTCCATGGGGGAGGCCCCAGCGTGGCTAAAGAAGACCGGAGGCCTCGCTGGGTGGACAGTCCAGTGGGTAAGAGCGGGGCCTTGGTGGCAGAGGCCCTGAGGTGAACCCGGCTCTGCCTGTGACTGAGCCAGGCCACTTAACCTCCCTGAACTGCAGTGTCTGAGGCTGTCAAAGGGGATTATTCAGAGTTTTAACTGAAGAACAGAGATGTCAGCCTCTTATTCTAAGAAAACAATAATAAGCGGTGTCCCCATGATAGTCCCCAGTGCTGTGGCTTTGAGTTCCTCGAGGAAAGATACTAACAATGCACTTTCTGCACAACAGGGGCCAATCTCAAAGTCATCAGCACCATGTCTGTGGGCATCGACCACTTGGCTTTGGATGAAATCAAGAAGCTGTAACTGCAGCTTGGGATCTGGAGGGGGCCTAGAGAGAGGGGTGGCTATGAGAGAAAGAAGAGCTGTTGATTTGTTTTTACTGCATATCCCTCGGCCATTCAGGGAGAATGTGAGGTGGCTGATGATAGAATCTGTCCACATGTGCACAGGTCAGTTACAATAAACCCCAGCAGTCAGAAACAGTGGGTAACTTCTGTGTAGGTGGCACCCTTTCACATTCATTATCTTTTTTGATCCCCACAACAATACCTTGAAGTAGCAAAGGCAGGTGTTATTCTTTCTGTTTCAGATGAGGAAATTCAGAAAGGTTAAGTTACTTGTTCAGTCCCTGAACCCTGATCTTCCATCTTCATATCCTTCCAAAGTGGGAGATAATCTAAATAGGAATGAGGACTGCCCGTTTTTGAGTGCTCATTTATAGTTCTGAGCTTCCTGGCAGGCAGATCAAAGAGGGAGCAAAGTAACTCCATGGAAATGTCCCAGCAGTAGACATTGGTAAATATGGTTGAGGCTGATGTTACCACCAGATGTCTGATTCGTAGTGGGATCCGAGTTGGCTACACCCCAGATGTCCTGACAGATACCACCGCCGAACTCGCAGTCTCCCTGCTACTTACCACCTGCCGCCGGTTGCCGGAGGCCATCGAGGAAGTGAAGAAGTAAGTGAACGCAGACCAGGTGCGGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGCGGATCATGAGGTTAGGAGTTCGAGACCAGTCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAAAAAATTAGCTGGGTGTGGTGGTGGGTCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATGTGAACCCAGGAGACAGAGGTTGCAGTGAGCTGAGATCACACCATTGCACTCCAGCCCAGGTGACGGTGTGAGACTCTGTCTCAAAAAAAAAAAGAAAAATAAGTGAACGCCTGGCAGGAACGTTGGCTCTGCTCAGCACTGGATCCTGATCACTGTGCCAGTCCAGCCCACGCATAGTCCCTGACCCCAGGTGTGCCCCATTGAGTGAGGACTCAGCTAAAATAAAGCACAAAGCAGAGCTGCAATAAGGGCAGAAAGGGAAGTGGTGAGAGAAGAGGATGAGGGAGGACAAACAAGTTCTGCTGGTGGGTGAGGGCTGGCAGGGAGAGTGTGGATCAGGGAGGGCTTCACAGAATAAGTAGCAGGTGGGCGTCCGCTTGAGTCCTGAAAGCTGCAGGTCCACCATCCCTTAGATCCCAAAATCTAAAAAGCTCGGACAGCTGAAAGTTCTTTCATACTAACAGGAGACTATTTAAGGCTTTTATTTCTCCCATTTAATGTGACTTTCCTAAGTTTTGCTGCAGATGTAACACTTTTAAAACAGGCTGCTGCCCAGACACTGCAGAGGGTGATGTGTGGAATCTACCACGTGCGCCATGCTGCCTTTCTAAAGGCCAAACAGTTTTAAAATCTAGCCTGAAGGTTTCAGATCAGGGATTTCGGCCTGTATATCAAGAGTTAGAGTTGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATTGTTTGAGCCTCAGGAGTTGGAGAACAGCTTGGGCAATGTGGCAAAAGTCTGTCTCTACAAAAAATACAAAAATTAGGCAGGCGTGGTGTTACACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCTCACTGTCCTGTCTGGGGAGTCATCACATCTACTGGAGG
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Task1_train_12896
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A genetic alteration is present in GRHPR (glyoxylate and hydroxypyruvate reductase) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Primary hyperoxaluria, type II
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GATGTTACCACCAGATGTCTGATTCGTAGTGGGATCCGAGTTGGCTACACCCCAGATGTCCTGACAGATACCACCGCCGAACTCGCAGTCTCCCTGCTACTTACCACCTGCCGCCGGTTGCCGGAGGCCATCGAGGAAGTGAAGAAGTAAGTGAACGCAGACCAGGTGCGGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGCGGATCATGAGGTTAGGAGTTCGAGACCAGTCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAAAAAATTAGCTGGGTGTGGTGGTGGGTCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATGTGAACCCAGGAGACAGAGGTTGCAGTGAGCTGAGATCACACCATTGCACTCCAGCCCAGGTGACGGTGTGAGACTCTGTCTCAAAAAAAAAAAGAAAAATAAGTGAACGCCTGGCAGGAACGTTGGCTCTGCTCAGCACTGGATCCTGATCACTGTGCCAGTCCAGCCCACGCATAGTCCCTGACCCCAGGTGTGCCCCATTGAGTGAGGACTCAGCTAAAATAAAGCACAAAGCAGAGCTGCAATAAGGGCAGAAAGGGAAGTGGTGAGAGAAGAGGATGAGGGAGGACAAACAAGTTCTGCTGGTGGGTGAGGGCTGGCAGGGAGAGTGTGGATCAGGGAGGGCTTCACAGAATAAGTAGCAGGTGGGCGTCCGCTTGAGTCCTGAAAGCTGCAGGTCCACCATCCCTTAGATCCCAAAATCTAAAAAGCTCGGACAGCTGAAAGTTCTTTCATACTAACAGGAGACTATTTAAGGCTTTTATTTCTCCCATTTAATGTGACTTTCCTAAGTTTTGCTGCAGATGTAACACTTTTAAAACAGGCTGCTGCCCAGACACTGCAGAGGGTGATGTGTGGAATCTACCACGTGCGCCATGCTGCCTTTCTAAAGGCCAAACAGTTTTAAAATCTAGCCTGAAGGTTTCAGATCAGGGATTTCGGCCTGTATATCAAGAGTTAGAGTTGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATTGTTTGAGCCTCAGGAGTTGGAGAACAGCTTGGGCAATGTGGCAAAAGTCTGTCTCTACAAAAAATACAAAAATTAGGCAGGCGTGGTGTTACACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCTCACTGTCCTGTCTGGGGAGTCATCACATCTACTGGAGGTGGCTCAGGGCAGGCTCCATCTCTTGCCCAGGGCAGCAGGGTGGGCCCTGTGGCTGTACTCTTTGTTGCTGCCCTAAAGTGCCAAGAGAACTTGTTTTGGAATCATAAATCCTGAGTTTGCAGCCTGTTGCTCTCAACTCTTCCCTGGTTGTGTGACCTCAGGCAAGTCACCCTTTCTGGTTTGTTTTCCCATCTGCAAAACAGGATGAGAGCCAGTAAGGCCCCTTCCCGCCCTCAAGTTCTATGTCTCTGGTGGCTTTAAAGGTGGAGTCGTTTCTGCTGCTCATCTGCAGTGCCGAGTGGCAGTGCCTCATCCCACTCTCAGTCCGTGACCTGGAGGGTGGGTTTATACCTTGGACCACAGTCAGAGGTGCCGGGTTCTCAGCGGCCCCCATCTTGGTCCAAGGCTGGGCCTCTCACCTGCCCCTCTCTCTCCCCTCAGTGGTGGCTGGACCTCGTGGAAGCCCCTCTGGCTGTGTGGCTATGGACTCACGCAGAGCACTGTCGGCATCATCGGGCTGGGGCGCATAGGTGAGGCTCCCACCGGCCCGCTTGCCCGCCCCGGCTCTCACAGCGTGGTTTGCATCCCTGGCACCACGTGTCTGAAGGCTGAGAAGACCCACATGCTGTCAGGGCACTTTGCTTGCAGTAGAGATATCTCTAATGAGGGATACAGCTTTGTAAAACACAGGCAAATACATAAATAAACCAAAGCAGGATTCCTTAAGAACTCACCAGGTGATAAAAGCAAGTTGCCTAAGGGTCAGGGGGCTTCATGATTCCGGCTCCATAAAGAACAGATGAAGACTACAAATGTGTTGGGGCCGTTAGGAGTGGTTACCGTGAGAGAGCCCATTCCCCCGACACCTACTCCGGCTTGCGTTCTGGAAGGTATGTGACTCACAAAGCCCTAACTCGGGCCGGAGGGCTCAGTGGGCAGAGTTGATCTGCAGTTCTGCAGATGAGGCAGAGACACTTTTCTTCCAGTGGCCCTTATTTGGAGAAGCCTGGCAGAAGGGCGTGAGCCTAGCCAAGCAGCTATCTATTGGTGGTTCTCTGTCATCCTGCCTGGTGCAGGGGTGCGGGTGAGGGTGGAGAGTGTGGAGAACCTGTCTAGCCAACGAACAGCCCTGCCTCTCACTAGAGAGTTGCTTGGAGGAACCCAACAGCTTTGGGGCACGTTCTGAGCCTGAAAATCCAACTGTACAAATCTGTCTCAGCAGCAGCTTACATGAAAATTGTAAGTTTGGGGTGAGCTGGCAGTTTGGCAGTGCCACCAAAAAGTCAAATGGGGTCTGAGACTGCATTCACAGAAGCAGAGGGTCCAGGACAAAGGAGGGGACTGCTTGACCAGGTGTCTCCCTTGTGAAAACCTCTCCAGTTCTCAGAGGTTAGGAAAAACCTGAGTGGCTTTCCAGATGGCTTGGACCATGTGAGGACAGCATCAGCCAGTCACAGCCTCAGGGGAGCTGAGGTGCTGTCTCCAGATCCCTGGGGCAGTGTGGGCTGGCTGGGGGCTAGTTACAGTGGGGCAGCCAGCCCCCCACCCGCTTTGGAGGAGACAGGAGCAGGCAACTCGGGCTGTGCTGATGAAAAGGGTCTGCCCTGAGGGCCGCTGTTCCAGAAATGCTGGGTGGTGTCCCTACCCTTTGCGGGACTGGGAACGAGACATGGACTCTCCTTGCTCTAGGCCAGGCCATTGCTCGGCGTCTGAAACCATTCGGTGTCCAGAGATTTCTGTACACAGGGCGCCAGCCCAGGCCTGAGGAAGCAGCAGAATTCCAGGCAGAGTTTGGTAAGTGAAGCCTTGATTTCCACAGGAGCCTATCTGTGCCCAGTTGAGAGGCTGTATTTTCTCTCAATGGTGGCATTTTCAGGCAGAGGGCAGGAGCTCCAGGCATGTCCAGGGGCTGCTGTCTGGTAGATGTTTAATCTACCTGCCCCTGGACACTGGCCCACTCAGGGAGCACAGGGACTTACCCAGGTCCTCTCCGAGCCAGCAGAGCAGTCCAGGGCTCCCGTCTTTCAGAGTCCTTTGTTACCATTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCTGGGCACTTTGGGCCCTGAAGGTAGTTAAAGCCAGAGTGGTCCAGATCCCACTGTGTGTGATTTGACTTTGTGCACTCATGAGAGTTGTCCAGGTAGAGACTCGGCCTTCAGGAAGCATCTTGGGAGTTTCTGTTAGGGAGTCGGGAGCAAGGGGCTGGTCTCCCGCCATCTGGTTGTCCCTAGCCTGGGACTCAGTGCCTGATGGAGTCCTGCCCTCCCTCAGTGTCTACCCCTGAGCTGGCTGCCCAATCTGATTTCATCGTCGTGGCCTGCTCCTTAACACCTGCAACCGAGGGACTCTGCAACAAGGACTTCTT
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GATGTTACCACCAGATGTCTGATTCGTAGTGGGATCCGAGTTGGCTACACCCCAGATGTCCTGACAGATACCACCGCCGAACTCGCAGTCTCCCTGCTACTTACCACCTGCCGCCGGTTGCCGGAGGCCATCGAGGAAGTGAAGAAGTAAGTGAACGCAGACCAGGTGCGGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGCGGATCATGAGGTTAGGAGTTCGAGACCAGTCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAAAAAATTAGCTGGGTGTGGTGGTGGGTCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATGTGAACCCAGGAGACAGAGGTTGCAGTGAGCTGAGATCACACCATTGCACTCCAGCCCAGGTGACGGTGTGAGACTCTGTCTCAAAAAAAAAAAGAAAAATAAGTGAACGCCTGGCAGGAACGTTGGCTCTGCTCAGCACTGGATCCTGATCACTGTGCCAGTCCAGCCCACGCATAGTCCCTGACCCCAGGTGTGCCCCATTGAGTGAGGACTCAGCTAAAATAAAGCACAAAGCAGAGCTGCAATAAGGGCAGAAAGGGAAGTGGTGAGAGAAGAGGATGAGGGAGGACAAACAAGTTCTGCTGGTGGGTGAGGGCTGGCAGGGAGAGTGTGGATCAGGGAGGGCTTCACAGAATAAGTAGCAGGTGGGCGTCCGCTTGAGTCCTGAAAGCTGCAGGTCCACCATCCCTTAGATCCCAAAATCTAAAAAGCTCGGACAGCTGAAAGTTCTTTCATACTAACAGGAGACTATTTAAGGCTTTTATTTCTCCCATTTAATGTGACTTTCCTAAGTTTTGCTGCAGATGTAACACTTTTAAAACAGGCTGCTGCCCAGACACTGCAGAGGGTGATGTGTGGAATCTACCACGTGCGCCATGCTGCCTTTCTAAAGGCCAAACAGTTTTAAAATCTAGCCTGAAGGTTTCAGATCAGGGATTTCGGCCTGTATATCAAGAGTTAGAGTTGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATTGTTTGAGCCTCAGGAGTTGGAGAACAGCTTGGGCAATGTGGCAAAAGTCTGTCTCTACAAAAAATACAAAAATTAGGCAGGCGTGGTGTTACACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCTCACTGTCCTGTCTGGGGAGTCATCACATCTACTGGAGGTGGCTCAGGGCAGGCTCCATCTCTTGCCCAGGGCAGCAGGGTGGGCCCTGTGGCTGTACTCTTTGTTGCTGCCCTAAAGTGCCAAGAGAACTTGTTTTGGAATCATAAATCCTGAGTTTGCAGCCTGTTGCTCTCAACTCTTCCCTGGTTGTGTGACCTCAGGCAAGTCACCCTTTCTGGTTTGTTTTCCCATCTGCAAAACAGGATGAGAGCCAGTAAGGCCCCTTCCCGCCCTCAAGTTCTATGTCTCTGGTGGCTTTAAAGGTGGAGTCGTTTCTGCTGCTCATCTGCAGTGCCGAGTGGCAGTGCCTCATCCCACTCTCAGTCCGTGACCTGGAGGGTGGGTTTATACCTTGGACCACAGTCAGAGGTGCCGGGTTCTCAGCGGCCCCCATCTTGGTCCAAGGCTGGGCCTCTCACCTGCCCCTCTCTCTCCCCTCAGTGGTGGCTGGACCTCGTGGAAGCCCCTCTGGCTGTGTGGCTATGGACTCACGCAGAGCACTGTCGGCATCATCAGGCTGGGGCGCATAGGTGAGGCTCCCACCGGCCCGCTTGCCCGCCCCGGCTCTCACAGCGTGGTTTGCATCCCTGGCACCACGTGTCTGAAGGCTGAGAAGACCCACATGCTGTCAGGGCACTTTGCTTGCAGTAGAGATATCTCTAATGAGGGATACAGCTTTGTAAAACACAGGCAAATACATAAATAAACCAAAGCAGGATTCCTTAAGAACTCACCAGGTGATAAAAGCAAGTTGCCTAAGGGTCAGGGGGCTTCATGATTCCGGCTCCATAAAGAACAGATGAAGACTACAAATGTGTTGGGGCCGTTAGGAGTGGTTACCGTGAGAGAGCCCATTCCCCCGACACCTACTCCGGCTTGCGTTCTGGAAGGTATGTGACTCACAAAGCCCTAACTCGGGCCGGAGGGCTCAGTGGGCAGAGTTGATCTGCAGTTCTGCAGATGAGGCAGAGACACTTTTCTTCCAGTGGCCCTTATTTGGAGAAGCCTGGCAGAAGGGCGTGAGCCTAGCCAAGCAGCTATCTATTGGTGGTTCTCTGTCATCCTGCCTGGTGCAGGGGTGCGGGTGAGGGTGGAGAGTGTGGAGAACCTGTCTAGCCAACGAACAGCCCTGCCTCTCACTAGAGAGTTGCTTGGAGGAACCCAACAGCTTTGGGGCACGTTCTGAGCCTGAAAATCCAACTGTACAAATCTGTCTCAGCAGCAGCTTACATGAAAATTGTAAGTTTGGGGTGAGCTGGCAGTTTGGCAGTGCCACCAAAAAGTCAAATGGGGTCTGAGACTGCATTCACAGAAGCAGAGGGTCCAGGACAAAGGAGGGGACTGCTTGACCAGGTGTCTCCCTTGTGAAAACCTCTCCAGTTCTCAGAGGTTAGGAAAAACCTGAGTGGCTTTCCAGATGGCTTGGACCATGTGAGGACAGCATCAGCCAGTCACAGCCTCAGGGGAGCTGAGGTGCTGTCTCCAGATCCCTGGGGCAGTGTGGGCTGGCTGGGGGCTAGTTACAGTGGGGCAGCCAGCCCCCCACCCGCTTTGGAGGAGACAGGAGCAGGCAACTCGGGCTGTGCTGATGAAAAGGGTCTGCCCTGAGGGCCGCTGTTCCAGAAATGCTGGGTGGTGTCCCTACCCTTTGCGGGACTGGGAACGAGACATGGACTCTCCTTGCTCTAGGCCAGGCCATTGCTCGGCGTCTGAAACCATTCGGTGTCCAGAGATTTCTGTACACAGGGCGCCAGCCCAGGCCTGAGGAAGCAGCAGAATTCCAGGCAGAGTTTGGTAAGTGAAGCCTTGATTTCCACAGGAGCCTATCTGTGCCCAGTTGAGAGGCTGTATTTTCTCTCAATGGTGGCATTTTCAGGCAGAGGGCAGGAGCTCCAGGCATGTCCAGGGGCTGCTGTCTGGTAGATGTTTAATCTACCTGCCCCTGGACACTGGCCCACTCAGGGAGCACAGGGACTTACCCAGGTCCTCTCCGAGCCAGCAGAGCAGTCCAGGGCTCCCGTCTTTCAGAGTCCTTTGTTACCATTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCTGGGCACTTTGGGCCCTGAAGGTAGTTAAAGCCAGAGTGGTCCAGATCCCACTGTGTGTGATTTGACTTTGTGCACTCATGAGAGTTGTCCAGGTAGAGACTCGGCCTTCAGGAAGCATCTTGGGAGTTTCTGTTAGGGAGTCGGGAGCAAGGGGCTGGTCTCCCGCCATCTGGTTGTCCCTAGCCTGGGACTCAGTGCCTGATGGAGTCCTGCCCTCCCTCAGTGTCTACCCCTGAGCTGGCTGCCCAATCTGATTTCATCGTCGTGGCCTGCTCCTTAACACCTGCAACCGAGGGACTCTGCAACAAGGACTTCTT
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Task1_train_12897
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This mutation occurs in GRHPR (glyoxylate and hydroxypyruvate reductase) on Chromosome 9. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Primary hyperoxaluria
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AAAAATTAGGCAGGCGTGGTGTTACACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCTCACTGTCCTGTCTGGGGAGTCATCACATCTACTGGAGGTGGCTCAGGGCAGGCTCCATCTCTTGCCCAGGGCAGCAGGGTGGGCCCTGTGGCTGTACTCTTTGTTGCTGCCCTAAAGTGCCAAGAGAACTTGTTTTGGAATCATAAATCCTGAGTTTGCAGCCTGTTGCTCTCAACTCTTCCCTGGTTGTGTGACCTCAGGCAAGTCACCCTTTCTGGTTTGTTTTCCCATCTGCAAAACAGGATGAGAGCCAGTAAGGCCCCTTCCCGCCCTCAAGTTCTATGTCTCTGGTGGCTTTAAAGGTGGAGTCGTTTCTGCTGCTCATCTGCAGTGCCGAGTGGCAGTGCCTCATCCCACTCTCAGTCCGTGACCTGGAGGGTGGGTTTATACCTTGGACCACAGTCAGAGGTGCCGGGTTCTCAGCGGCCCCCATCTTGGTCCAAGGCTGGGCCTCTCACCTGCCCCTCTCTCTCCCCTCAGTGGTGGCTGGACCTCGTGGAAGCCCCTCTGGCTGTGTGGCTATGGACTCACGCAGAGCACTGTCGGCATCATCGGGCTGGGGCGCATAGGTGAGGCTCCCACCGGCCCGCTTGCCCGCCCCGGCTCTCACAGCGTGGTTTGCATCCCTGGCACCACGTGTCTGAAGGCTGAGAAGACCCACATGCTGTCAGGGCACTTTGCTTGCAGTAGAGATATCTCTAATGAGGGATACAGCTTTGTAAAACACAGGCAAATACATAAATAAACCAAAGCAGGATTCCTTAAGAACTCACCAGGTGATAAAAGCAAGTTGCCTAAGGGTCAGGGGGCTTCATGATTCCGGCTCCATAAAGAACAGATGAAGACTACAAATGTGTTGGGGCCGTTAGGAGTGGTTACCGTGAGAGAGCCCATTCCCCCGACACCTACTCCGGCTTGCGTTCTGGAAGGTATGTGACTCACAAAGCCCTAACTCGGGCCGGAGGGCTCAGTGGGCAGAGTTGATCTGCAGTTCTGCAGATGAGGCAGAGACACTTTTCTTCCAGTGGCCCTTATTTGGAGAAGCCTGGCAGAAGGGCGTGAGCCTAGCCAAGCAGCTATCTATTGGTGGTTCTCTGTCATCCTGCCTGGTGCAGGGGTGCGGGTGAGGGTGGAGAGTGTGGAGAACCTGTCTAGCCAACGAACAGCCCTGCCTCTCACTAGAGAGTTGCTTGGAGGAACCCAACAGCTTTGGGGCACGTTCTGAGCCTGAAAATCCAACTGTACAAATCTGTCTCAGCAGCAGCTTACATGAAAATTGTAAGTTTGGGGTGAGCTGGCAGTTTGGCAGTGCCACCAAAAAGTCAAATGGGGTCTGAGACTGCATTCACAGAAGCAGAGGGTCCAGGACAAAGGAGGGGACTGCTTGACCAGGTGTCTCCCTTGTGAAAACCTCTCCAGTTCTCAGAGGTTAGGAAAAACCTGAGTGGCTTTCCAGATGGCTTGGACCATGTGAGGACAGCATCAGCCAGTCACAGCCTCAGGGGAGCTGAGGTGCTGTCTCCAGATCCCTGGGGCAGTGTGGGCTGGCTGGGGGCTAGTTACAGTGGGGCAGCCAGCCCCCCACCCGCTTTGGAGGAGACAGGAGCAGGCAACTCGGGCTGTGCTGATGAAAAGGGTCTGCCCTGAGGGCCGCTGTTCCAGAAATGCTGGGTGGTGTCCCTACCCTTTGCGGGACTGGGAACGAGACATGGACTCTCCTTGCTCTAGGCCAGGCCATTGCTCGGCGTCTGAAACCATTCGGTGTCCAGAGATTTCTGTACACAGGGCGCCAGCCCAGGCCTGAGGAAGCAGCAGAATTCCAGGCAGAGTTTGGTAAGTGAAGCCTTGATTTCCACAGGAGCCTATCTGTGCCCAGTTGAGAGGCTGTATTTTCTCTCAATGGTGGCATTTTCAGGCAGAGGGCAGGAGCTCCAGGCATGTCCAGGGGCTGCTGTCTGGTAGATGTTTAATCTACCTGCCCCTGGACACTGGCCCACTCAGGGAGCACAGGGACTTACCCAGGTCCTCTCCGAGCCAGCAGAGCAGTCCAGGGCTCCCGTCTTTCAGAGTCCTTTGTTACCATTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCTGGGCACTTTGGGCCCTGAAGGTAGTTAAAGCCAGAGTGGTCCAGATCCCACTGTGTGTGATTTGACTTTGTGCACTCATGAGAGTTGTCCAGGTAGAGACTCGGCCTTCAGGAAGCATCTTGGGAGTTTCTGTTAGGGAGTCGGGAGCAAGGGGCTGGTCTCCCGCCATCTGGTTGTCCCTAGCCTGGGACTCAGTGCCTGATGGAGTCCTGCCCTCCCTCAGTGTCTACCCCTGAGCTGGCTGCCCAATCTGATTTCATCGTCGTGGCCTGCTCCTTAACACCTGCAACCGAGGGACTCTGCAACAAGGACTTCTTCCAGAAGATGAAGGAAACAGCTGTGTTCATCAACATCAGCAGGTATCCTAGGGCCACCTTACCCAGCAAGCCTGGAGAGGAGCCATCCCCACTGCTGCCATCTGGAGATTTTCTTCCCCGTGGGTTGTTGGTGAGACCCCAGGCTGAGCTTGCTGGTTTCCATAAACCAAACAACCAACTCAGAAATTCGTGGGAATACACGAGACCTCCGTACAGGGAAGAAGAGCCGTCAGAGTGGGCCTGGCCTGTCTGCTTCTCAGCAGTGGCCCCCACCCGGCGGGGCCTGGCACACAGCAGCGTGGCTTCAGGGAGTGTTCCCAGGGAGCCTCTGCAGGCCCATTATCCTCCACCACAAAGGGCTGGACTTGAGGATCTGAAGGGCCCTCTGGAGGCCGCCTCCCACACTGCTGAGCCTGGCTTTGTCTGGCTGTGGTTCAGTGATACTTTGAACCTTATGCTCCTGGGCGGACAGACCCTAAAACTCACGTGGTCGTAGCTCCTCACACTGTCCCTAGGGGTGCCTTCAGGCCACTGGGCATGTATGGAGGTCAGACCTTCCTTCTCTGCCACTCCAAGCCCTTCCTAGCTGGTGCCCCTTGAGCCTGTTTACATCAGTTTAGGGGAAGGGGGATTGGGTGAGGTCATCCTGAGGACTCGTCCACCCCAAAGGTACCTGTAATTACCAACATTTAGCTACAAAACAGGTGACCTGGGAATGGAAGAGTGAAACATGCAGGACCACAGGGCTCGCACTGCTGGCTGGCAGCAGTCACAGCTGCCGTGTACTGGGTGCCTGCATGTACCCAGGACAGCCCAGGACCGTGTATTACTCATTAGTGCACAAGTATTACTTAGTGCACAATATACAGTCTCTAGAAGATGACTTCTTGCCTTCAGTCGCCGCTCCCTTTGATGGCTGTGGTTAGGGGTGTGCTCGTTCCTCTGCCCTGGTTTAGACAGGTACCTGATAGCACACTGTGGTGCTTCTCAGTGGGGGTCTGGGGGTCAACCAGATCAGAAACACTTGGATGGGGCCTAACACAGATGCCCTTCTGGGCCCTGTTCATGCAGTAGAGCATGTAAGAAAGCTTTAATCCTCCCAACATGCCTGGGAGTTAGGTGGTATTCTCCTTATCTCACAGAGTAGATAATTTGAGACACAGATAATTCGAGGC
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AAAAATTAGGCAGGCGTGGTGTTACACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCTCACTGTCCTGTCTGGGGAGTCATCACATCTACTGGAGGTGGCTCAGGGCAGGCTCCATCTCTTGCCCAGGGCAGCAGGGTGGGCCCTGTGGCTGTACTCTTTGTTGCTGCCCTAAAGTGCCAAGAGAACTTGTTTTGGAATCATAAATCCTGAGTTTGCAGCCTGTTGCTCTCAACTCTTCCCTGGTTGTGTGACCTCAGGCAAGTCACCCTTTCTGGTTTGTTTTCCCATCTGCAAAACAGGATGAGAGCCAGTAAGGCCCCTTCCCGCCCTCAAGTTCTATGTCTCTGGTGGCTTTAAAGGTGGAGTCGTTTCTGCTGCTCATCTGCAGTGCCGAGTGGCAGTGCCTCATCCCACTCTCAGTCCGTGACCTGGAGGGTGGGTTTATACCTTGGACCACAGTCAGAGGTGCCGGGTTCTCAGCGGCCCCCATCTTGGTCCAAGGCTGGGCCTCTCACCTGCCCCTCTCTCTCCCCTCAGTGGTGGCTGGACCTCGTGGAAGCCCCTCTGGCTGTGTGGCTATGGACTCACGCAGAGCACTGTCGGCATCATCGGGCTGGGGCGCATAGGTGAGGCTCCCACCGGCCCGCTTGCCCGCCCCGGCTCTCACAGCGTGGTTTGCATCCCTGGCACCACGTGTCTGAAGGCTGAGAAGACCCACATGCTGTCAGGGCACTTTGCTTGCAGTAGAGATATCTCTAATGAGGGATACAGCTTTGTAAAACACAGGCAAATACATAAATAAACCAAAGCAGGATTCCTTAAGAACTCACCAGGTGATAAAAGCAAGTTGCCTAAGGGTCAGGGGGCTTCATGATTCCGGCTCCATAAAGAACAGATGAAGACTACAAATGTGTTGGGGCCGTTAGGAGTGGTTACCGTGAGAGAGCCCATTCCCCCGACACCTACTCCGGCTTGCGTTCTGGAAGGTATGTGACTCACAAAGCCCTAACTCGGGCCGGAGGGCTCAGTGGGCAGAGTTGATCTGCAGTTCTGCAGATGAGGCAGAGACACTTTTCTTCCAGTGGCCCTTATTTGGAGAAGCCTGGCAGAAGGGCGTGAGCCTAGCCAAGCAGCTATCTATTGGTGGTTCTCTGTCATCCTGCCTGGTGCAGGGGTGCGGGTGAGGGTGGAGAGTGTGGAGAACCTGTCTAGCCAACGAACAGCCCTGCCTCTCACTAGAGAGTTGCTTGGAGGAACCCAACAGCTTTGGGGCACGTTCTGAGCCTGAAAATCCAACTGTACAAATCTGTCTCAGCAGCAGCTTACATGAAAATTGTAAGTTTGGGGTGAGCTGGCAGTTTGGCAGTGCCACCAAAAAGTCAAATGGGGTCTGAGACTGCATTCACAGAAGCAGAGGGTCCAGGACAAAGGAGGGGACTGCTTGACCAGGTGTCTCCCTTGTGAAAACCTCTCCAGTTCTCAGAGGTTAGGAAAAACCTGAGTGGCTTTCCAGATGGCTTGGACCATGTGAGGACAGCATCAGCCAGTCACAGCCTCAGGGGAGCTGAGGTGCTGTCTCCAGATCCCTGGGGCAGTGTGGGCTGGCTGGGGGCTAGTTACAGTGGGGCAGCCAGCCCCCCACCCGCTTTGGAGGAGACAGGAGCAGGCAACTCGGGCTGTGCTGATGAAAAGGGTCTGCCCTGAGGGCCGCTGTTCCAGAAATGCTGGGTGGTGTCCCTACCCTTTGCGGGACTGGGAACGAGACATGGACTCTCCTTGCTCTAGACCAGGCCATTGCTCGGCGTCTGAAACCATTCGGTGTCCAGAGATTTCTGTACACAGGGCGCCAGCCCAGGCCTGAGGAAGCAGCAGAATTCCAGGCAGAGTTTGGTAAGTGAAGCCTTGATTTCCACAGGAGCCTATCTGTGCCCAGTTGAGAGGCTGTATTTTCTCTCAATGGTGGCATTTTCAGGCAGAGGGCAGGAGCTCCAGGCATGTCCAGGGGCTGCTGTCTGGTAGATGTTTAATCTACCTGCCCCTGGACACTGGCCCACTCAGGGAGCACAGGGACTTACCCAGGTCCTCTCCGAGCCAGCAGAGCAGTCCAGGGCTCCCGTCTTTCAGAGTCCTTTGTTACCATTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCTGGGCACTTTGGGCCCTGAAGGTAGTTAAAGCCAGAGTGGTCCAGATCCCACTGTGTGTGATTTGACTTTGTGCACTCATGAGAGTTGTCCAGGTAGAGACTCGGCCTTCAGGAAGCATCTTGGGAGTTTCTGTTAGGGAGTCGGGAGCAAGGGGCTGGTCTCCCGCCATCTGGTTGTCCCTAGCCTGGGACTCAGTGCCTGATGGAGTCCTGCCCTCCCTCAGTGTCTACCCCTGAGCTGGCTGCCCAATCTGATTTCATCGTCGTGGCCTGCTCCTTAACACCTGCAACCGAGGGACTCTGCAACAAGGACTTCTTCCAGAAGATGAAGGAAACAGCTGTGTTCATCAACATCAGCAGGTATCCTAGGGCCACCTTACCCAGCAAGCCTGGAGAGGAGCCATCCCCACTGCTGCCATCTGGAGATTTTCTTCCCCGTGGGTTGTTGGTGAGACCCCAGGCTGAGCTTGCTGGTTTCCATAAACCAAACAACCAACTCAGAAATTCGTGGGAATACACGAGACCTCCGTACAGGGAAGAAGAGCCGTCAGAGTGGGCCTGGCCTGTCTGCTTCTCAGCAGTGGCCCCCACCCGGCGGGGCCTGGCACACAGCAGCGTGGCTTCAGGGAGTGTTCCCAGGGAGCCTCTGCAGGCCCATTATCCTCCACCACAAAGGGCTGGACTTGAGGATCTGAAGGGCCCTCTGGAGGCCGCCTCCCACACTGCTGAGCCTGGCTTTGTCTGGCTGTGGTTCAGTGATACTTTGAACCTTATGCTCCTGGGCGGACAGACCCTAAAACTCACGTGGTCGTAGCTCCTCACACTGTCCCTAGGGGTGCCTTCAGGCCACTGGGCATGTATGGAGGTCAGACCTTCCTTCTCTGCCACTCCAAGCCCTTCCTAGCTGGTGCCCCTTGAGCCTGTTTACATCAGTTTAGGGGAAGGGGGATTGGGTGAGGTCATCCTGAGGACTCGTCCACCCCAAAGGTACCTGTAATTACCAACATTTAGCTACAAAACAGGTGACCTGGGAATGGAAGAGTGAAACATGCAGGACCACAGGGCTCGCACTGCTGGCTGGCAGCAGTCACAGCTGCCGTGTACTGGGTGCCTGCATGTACCCAGGACAGCCCAGGACCGTGTATTACTCATTAGTGCACAAGTATTACTTAGTGCACAATATACAGTCTCTAGAAGATGACTTCTTGCCTTCAGTCGCCGCTCCCTTTGATGGCTGTGGTTAGGGGTGTGCTCGTTCCTCTGCCCTGGTTTAGACAGGTACCTGATAGCACACTGTGGTGCTTCTCAGTGGGGGTCTGGGGGTCAACCAGATCAGAAACACTTGGATGGGGCCTAACACAGATGCCCTTCTGGGCCCTGTTCATGCAGTAGAGCATGTAAGAAAGCTTTAATCCTCCCAACATGCCTGGGAGTTAGGTGGTATTCTCCTTATCTCACAGAGTAGATAATTTGAGACACAGATAATTCGAGGC
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Task1_train_12898
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Here is a mutation in GRHPR (glyoxylate and hydroxypyruvate reductase) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Primary hyperoxaluria, type II
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AAAAATTAGGCAGGCGTGGTGTTACACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCTCACTGTCCTGTCTGGGGAGTCATCACATCTACTGGAGGTGGCTCAGGGCAGGCTCCATCTCTTGCCCAGGGCAGCAGGGTGGGCCCTGTGGCTGTACTCTTTGTTGCTGCCCTAAAGTGCCAAGAGAACTTGTTTTGGAATCATAAATCCTGAGTTTGCAGCCTGTTGCTCTCAACTCTTCCCTGGTTGTGTGACCTCAGGCAAGTCACCCTTTCTGGTTTGTTTTCCCATCTGCAAAACAGGATGAGAGCCAGTAAGGCCCCTTCCCGCCCTCAAGTTCTATGTCTCTGGTGGCTTTAAAGGTGGAGTCGTTTCTGCTGCTCATCTGCAGTGCCGAGTGGCAGTGCCTCATCCCACTCTCAGTCCGTGACCTGGAGGGTGGGTTTATACCTTGGACCACAGTCAGAGGTGCCGGGTTCTCAGCGGCCCCCATCTTGGTCCAAGGCTGGGCCTCTCACCTGCCCCTCTCTCTCCCCTCAGTGGTGGCTGGACCTCGTGGAAGCCCCTCTGGCTGTGTGGCTATGGACTCACGCAGAGCACTGTCGGCATCATCGGGCTGGGGCGCATAGGTGAGGCTCCCACCGGCCCGCTTGCCCGCCCCGGCTCTCACAGCGTGGTTTGCATCCCTGGCACCACGTGTCTGAAGGCTGAGAAGACCCACATGCTGTCAGGGCACTTTGCTTGCAGTAGAGATATCTCTAATGAGGGATACAGCTTTGTAAAACACAGGCAAATACATAAATAAACCAAAGCAGGATTCCTTAAGAACTCACCAGGTGATAAAAGCAAGTTGCCTAAGGGTCAGGGGGCTTCATGATTCCGGCTCCATAAAGAACAGATGAAGACTACAAATGTGTTGGGGCCGTTAGGAGTGGTTACCGTGAGAGAGCCCATTCCCCCGACACCTACTCCGGCTTGCGTTCTGGAAGGTATGTGACTCACAAAGCCCTAACTCGGGCCGGAGGGCTCAGTGGGCAGAGTTGATCTGCAGTTCTGCAGATGAGGCAGAGACACTTTTCTTCCAGTGGCCCTTATTTGGAGAAGCCTGGCAGAAGGGCGTGAGCCTAGCCAAGCAGCTATCTATTGGTGGTTCTCTGTCATCCTGCCTGGTGCAGGGGTGCGGGTGAGGGTGGAGAGTGTGGAGAACCTGTCTAGCCAACGAACAGCCCTGCCTCTCACTAGAGAGTTGCTTGGAGGAACCCAACAGCTTTGGGGCACGTTCTGAGCCTGAAAATCCAACTGTACAAATCTGTCTCAGCAGCAGCTTACATGAAAATTGTAAGTTTGGGGTGAGCTGGCAGTTTGGCAGTGCCACCAAAAAGTCAAATGGGGTCTGAGACTGCATTCACAGAAGCAGAGGGTCCAGGACAAAGGAGGGGACTGCTTGACCAGGTGTCTCCCTTGTGAAAACCTCTCCAGTTCTCAGAGGTTAGGAAAAACCTGAGTGGCTTTCCAGATGGCTTGGACCATGTGAGGACAGCATCAGCCAGTCACAGCCTCAGGGGAGCTGAGGTGCTGTCTCCAGATCCCTGGGGCAGTGTGGGCTGGCTGGGGGCTAGTTACAGTGGGGCAGCCAGCCCCCCACCCGCTTTGGAGGAGACAGGAGCAGGCAACTCGGGCTGTGCTGATGAAAAGGGTCTGCCCTGAGGGCCGCTGTTCCAGAAATGCTGGGTGGTGTCCCTACCCTTTGCGGGACTGGGAACGAGACATGGACTCTCCTTGCTCTAGGCCAGGCCATTGCTCGGCGTCTGAAACCATTCGGTGTCCAGAGATTTCTGTACACAGGGCGCCAGCCCAGGCCTGAGGAAGCAGCAGAATTCCAGGCAGAGTTTGGTAAGTGAAGCCTTGATTTCCACAGGAGCCTATCTGTGCCCAGTTGAGAGGCTGTATTTTCTCTCAATGGTGGCATTTTCAGGCAGAGGGCAGGAGCTCCAGGCATGTCCAGGGGCTGCTGTCTGGTAGATGTTTAATCTACCTGCCCCTGGACACTGGCCCACTCAGGGAGCACAGGGACTTACCCAGGTCCTCTCCGAGCCAGCAGAGCAGTCCAGGGCTCCCGTCTTTCAGAGTCCTTTGTTACCATTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCTGGGCACTTTGGGCCCTGAAGGTAGTTAAAGCCAGAGTGGTCCAGATCCCACTGTGTGTGATTTGACTTTGTGCACTCATGAGAGTTGTCCAGGTAGAGACTCGGCCTTCAGGAAGCATCTTGGGAGTTTCTGTTAGGGAGTCGGGAGCAAGGGGCTGGTCTCCCGCCATCTGGTTGTCCCTAGCCTGGGACTCAGTGCCTGATGGAGTCCTGCCCTCCCTCAGTGTCTACCCCTGAGCTGGCTGCCCAATCTGATTTCATCGTCGTGGCCTGCTCCTTAACACCTGCAACCGAGGGACTCTGCAACAAGGACTTCTTCCAGAAGATGAAGGAAACAGCTGTGTTCATCAACATCAGCAGGTATCCTAGGGCCACCTTACCCAGCAAGCCTGGAGAGGAGCCATCCCCACTGCTGCCATCTGGAGATTTTCTTCCCCGTGGGTTGTTGGTGAGACCCCAGGCTGAGCTTGCTGGTTTCCATAAACCAAACAACCAACTCAGAAATTCGTGGGAATACACGAGACCTCCGTACAGGGAAGAAGAGCCGTCAGAGTGGGCCTGGCCTGTCTGCTTCTCAGCAGTGGCCCCCACCCGGCGGGGCCTGGCACACAGCAGCGTGGCTTCAGGGAGTGTTCCCAGGGAGCCTCTGCAGGCCCATTATCCTCCACCACAAAGGGCTGGACTTGAGGATCTGAAGGGCCCTCTGGAGGCCGCCTCCCACACTGCTGAGCCTGGCTTTGTCTGGCTGTGGTTCAGTGATACTTTGAACCTTATGCTCCTGGGCGGACAGACCCTAAAACTCACGTGGTCGTAGCTCCTCACACTGTCCCTAGGGGTGCCTTCAGGCCACTGGGCATGTATGGAGGTCAGACCTTCCTTCTCTGCCACTCCAAGCCCTTCCTAGCTGGTGCCCCTTGAGCCTGTTTACATCAGTTTAGGGGAAGGGGGATTGGGTGAGGTCATCCTGAGGACTCGTCCACCCCAAAGGTACCTGTAATTACCAACATTTAGCTACAAAACAGGTGACCTGGGAATGGAAGAGTGAAACATGCAGGACCACAGGGCTCGCACTGCTGGCTGGCAGCAGTCACAGCTGCCGTGTACTGGGTGCCTGCATGTACCCAGGACAGCCCAGGACCGTGTATTACTCATTAGTGCACAAGTATTACTTAGTGCACAATATACAGTCTCTAGAAGATGACTTCTTGCCTTCAGTCGCCGCTCCCTTTGATGGCTGTGGTTAGGGGTGTGCTCGTTCCTCTGCCCTGGTTTAGACAGGTACCTGATAGCACACTGTGGTGCTTCTCAGTGGGGGTCTGGGGGTCAACCAGATCAGAAACACTTGGATGGGGCCTAACACAGATGCCCTTCTGGGCCCTGTTCATGCAGTAGAGCATGTAAGAAAGCTTTAATCCTCCCAACATGCCTGGGAGTTAGGTGGTATTCTCCTTATCTCACAGAGTAGATAATTTGAGACACAGATAATTCGAGGC
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AAAAATTAGGCAGGCGTGGTGTTACACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCTCACTGTCCTGTCTGGGGAGTCATCACATCTACTGGAGGTGGCTCAGGGCAGGCTCCATCTCTTGCCCAGGGCAGCAGGGTGGGCCCTGTGGCTGTACTCTTTGTTGCTGCCCTAAAGTGCCAAGAGAACTTGTTTTGGAATCATAAATCCTGAGTTTGCAGCCTGTTGCTCTCAACTCTTCCCTGGTTGTGTGACCTCAGGCAAGTCACCCTTTCTGGTTTGTTTTCCCATCTGCAAAACAGGATGAGAGCCAGTAAGGCCCCTTCCCGCCCTCAAGTTCTATGTCTCTGGTGGCTTTAAAGGTGGAGTCGTTTCTGCTGCTCATCTGCAGTGCCGAGTGGCAGTGCCTCATCCCACTCTCAGTCCGTGACCTGGAGGGTGGGTTTATACCTTGGACCACAGTCAGAGGTGCCGGGTTCTCAGCGGCCCCCATCTTGGTCCAAGGCTGGGCCTCTCACCTGCCCCTCTCTCTCCCCTCAGTGGTGGCTGGACCTCGTGGAAGCCCCTCTGGCTGTGTGGCTATGGACTCACGCAGAGCACTGTCGGCATCATCGGGCTGGGGCGCATAGGTGAGGCTCCCACCGGCCCGCTTGCCCGCCCCGGCTCTCACAGCGTGGTTTGCATCCCTGGCACCACGTGTCTGAAGGCTGAGAAGACCCACATGCTGTCAGGGCACTTTGCTTGCAGTAGAGATATCTCTAATGAGGGATACAGCTTTGTAAAACACAGGCAAATACATAAATAAACCAAAGCAGGATTCCTTAAGAACTCACCAGGTGATAAAAGCAAGTTGCCTAAGGGTCAGGGGGCTTCATGATTCCGGCTCCATAAAGAACAGATGAAGACTACAAATGTGTTGGGGCCGTTAGGAGTGGTTACCGTGAGAGAGCCCATTCCCCCGACACCTACTCCGGCTTGCGTTCTGGAAGGTATGTGACTCACAAAGCCCTAACTCGGGCCGGAGGGCTCAGTGGGCAGAGTTGATCTGCAGTTCTGCAGATGAGGCAGAGACACTTTTCTTCCAGTGGCCCTTATTTGGAGAAGCCTGGCAGAAGGGCGTGAGCCTAGCCAAGCAGCTATCTATTGGTGGTTCTCTGTCATCCTGCCTGGTGCAGGGGTGCGGGTGAGGGTGGAGAGTGTGGAGAACCTGTCTAGCCAACGAACAGCCCTGCCTCTCACTAGAGAGTTGCTTGGAGGAACCCAACAGCTTTGGGGCACGTTCTGAGCCTGAAAATCCAACTGTACAAATCTGTCTCAGCAGCAGCTTACATGAAAATTGTAAGTTTGGGGTGAGCTGGCAGTTTGGCAGTGCCACCAAAAAGTCAAATGGGGTCTGAGACTGCATTCACAGAAGCAGAGGGTCCAGGACAAAGGAGGGGACTGCTTGACCAGGTGTCTCCCTTGTGAAAACCTCTCCAGTTCTCAGAGGTTAGGAAAAACCTGAGTGGCTTTCCAGATGGCTTGGACCATGTGAGGACAGCATCAGCCAGTCACAGCCTCAGGGGAGCTGAGGTGCTGTCTCCAGATCCCTGGGGCAGTGTGGGCTGGCTGGGGGCTAGTTACAGTGGGGCAGCCAGCCCCCCACCCGCTTTGGAGGAGACAGGAGCAGGCAACTCGGGCTGTGCTGATGAAAAGGGTCTGCCCTGAGGGCCGCTGTTCCAGAAATGCTGGGTGGTGTCCCTACCCTTTGCGGGACTGGGAACGAGACATGGACTCTCCTTGCTCTAGACCAGGCCATTGCTCGGCGTCTGAAACCATTCGGTGTCCAGAGATTTCTGTACACAGGGCGCCAGCCCAGGCCTGAGGAAGCAGCAGAATTCCAGGCAGAGTTTGGTAAGTGAAGCCTTGATTTCCACAGGAGCCTATCTGTGCCCAGTTGAGAGGCTGTATTTTCTCTCAATGGTGGCATTTTCAGGCAGAGGGCAGGAGCTCCAGGCATGTCCAGGGGCTGCTGTCTGGTAGATGTTTAATCTACCTGCCCCTGGACACTGGCCCACTCAGGGAGCACAGGGACTTACCCAGGTCCTCTCCGAGCCAGCAGAGCAGTCCAGGGCTCCCGTCTTTCAGAGTCCTTTGTTACCATTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCTGGGCACTTTGGGCCCTGAAGGTAGTTAAAGCCAGAGTGGTCCAGATCCCACTGTGTGTGATTTGACTTTGTGCACTCATGAGAGTTGTCCAGGTAGAGACTCGGCCTTCAGGAAGCATCTTGGGAGTTTCTGTTAGGGAGTCGGGAGCAAGGGGCTGGTCTCCCGCCATCTGGTTGTCCCTAGCCTGGGACTCAGTGCCTGATGGAGTCCTGCCCTCCCTCAGTGTCTACCCCTGAGCTGGCTGCCCAATCTGATTTCATCGTCGTGGCCTGCTCCTTAACACCTGCAACCGAGGGACTCTGCAACAAGGACTTCTTCCAGAAGATGAAGGAAACAGCTGTGTTCATCAACATCAGCAGGTATCCTAGGGCCACCTTACCCAGCAAGCCTGGAGAGGAGCCATCCCCACTGCTGCCATCTGGAGATTTTCTTCCCCGTGGGTTGTTGGTGAGACCCCAGGCTGAGCTTGCTGGTTTCCATAAACCAAACAACCAACTCAGAAATTCGTGGGAATACACGAGACCTCCGTACAGGGAAGAAGAGCCGTCAGAGTGGGCCTGGCCTGTCTGCTTCTCAGCAGTGGCCCCCACCCGGCGGGGCCTGGCACACAGCAGCGTGGCTTCAGGGAGTGTTCCCAGGGAGCCTCTGCAGGCCCATTATCCTCCACCACAAAGGGCTGGACTTGAGGATCTGAAGGGCCCTCTGGAGGCCGCCTCCCACACTGCTGAGCCTGGCTTTGTCTGGCTGTGGTTCAGTGATACTTTGAACCTTATGCTCCTGGGCGGACAGACCCTAAAACTCACGTGGTCGTAGCTCCTCACACTGTCCCTAGGGGTGCCTTCAGGCCACTGGGCATGTATGGAGGTCAGACCTTCCTTCTCTGCCACTCCAAGCCCTTCCTAGCTGGTGCCCCTTGAGCCTGTTTACATCAGTTTAGGGGAAGGGGGATTGGGTGAGGTCATCCTGAGGACTCGTCCACCCCAAAGGTACCTGTAATTACCAACATTTAGCTACAAAACAGGTGACCTGGGAATGGAAGAGTGAAACATGCAGGACCACAGGGCTCGCACTGCTGGCTGGCAGCAGTCACAGCTGCCGTGTACTGGGTGCCTGCATGTACCCAGGACAGCCCAGGACCGTGTATTACTCATTAGTGCACAAGTATTACTTAGTGCACAATATACAGTCTCTAGAAGATGACTTCTTGCCTTCAGTCGCCGCTCCCTTTGATGGCTGTGGTTAGGGGTGTGCTCGTTCCTCTGCCCTGGTTTAGACAGGTACCTGATAGCACACTGTGGTGCTTCTCAGTGGGGGTCTGGGGGTCAACCAGATCAGAAACACTTGGATGGGGCCTAACACAGATGCCCTTCTGGGCCCTGTTCATGCAGTAGAGCATGTAAGAAAGCTTTAATCCTCCCAACATGCCTGGGAGTTAGGTGGTATTCTCCTTATCTCACAGAGTAGATAATTTGAGACACAGATAATTCGAGGC
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Task1_train_12899
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A variant affecting Chromosome 9, within the gene GRHPR (glyoxylate and hydroxypyruvate reductase), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Primary hyperoxaluria, type II
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CTGGACCTCGTGGAAGCCCCTCTGGCTGTGTGGCTATGGACTCACGCAGAGCACTGTCGGCATCATCGGGCTGGGGCGCATAGGTGAGGCTCCCACCGGCCCGCTTGCCCGCCCCGGCTCTCACAGCGTGGTTTGCATCCCTGGCACCACGTGTCTGAAGGCTGAGAAGACCCACATGCTGTCAGGGCACTTTGCTTGCAGTAGAGATATCTCTAATGAGGGATACAGCTTTGTAAAACACAGGCAAATACATAAATAAACCAAAGCAGGATTCCTTAAGAACTCACCAGGTGATAAAAGCAAGTTGCCTAAGGGTCAGGGGGCTTCATGATTCCGGCTCCATAAAGAACAGATGAAGACTACAAATGTGTTGGGGCCGTTAGGAGTGGTTACCGTGAGAGAGCCCATTCCCCCGACACCTACTCCGGCTTGCGTTCTGGAAGGTATGTGACTCACAAAGCCCTAACTCGGGCCGGAGGGCTCAGTGGGCAGAGTTGATCTGCAGTTCTGCAGATGAGGCAGAGACACTTTTCTTCCAGTGGCCCTTATTTGGAGAAGCCTGGCAGAAGGGCGTGAGCCTAGCCAAGCAGCTATCTATTGGTGGTTCTCTGTCATCCTGCCTGGTGCAGGGGTGCGGGTGAGGGTGGAGAGTGTGGAGAACCTGTCTAGCCAACGAACAGCCCTGCCTCTCACTAGAGAGTTGCTTGGAGGAACCCAACAGCTTTGGGGCACGTTCTGAGCCTGAAAATCCAACTGTACAAATCTGTCTCAGCAGCAGCTTACATGAAAATTGTAAGTTTGGGGTGAGCTGGCAGTTTGGCAGTGCCACCAAAAAGTCAAATGGGGTCTGAGACTGCATTCACAGAAGCAGAGGGTCCAGGACAAAGGAGGGGACTGCTTGACCAGGTGTCTCCCTTGTGAAAACCTCTCCAGTTCTCAGAGGTTAGGAAAAACCTGAGTGGCTTTCCAGATGGCTTGGACCATGTGAGGACAGCATCAGCCAGTCACAGCCTCAGGGGAGCTGAGGTGCTGTCTCCAGATCCCTGGGGCAGTGTGGGCTGGCTGGGGGCTAGTTACAGTGGGGCAGCCAGCCCCCCACCCGCTTTGGAGGAGACAGGAGCAGGCAACTCGGGCTGTGCTGATGAAAAGGGTCTGCCCTGAGGGCCGCTGTTCCAGAAATGCTGGGTGGTGTCCCTACCCTTTGCGGGACTGGGAACGAGACATGGACTCTCCTTGCTCTAGGCCAGGCCATTGCTCGGCGTCTGAAACCATTCGGTGTCCAGAGATTTCTGTACACAGGGCGCCAGCCCAGGCCTGAGGAAGCAGCAGAATTCCAGGCAGAGTTTGGTAAGTGAAGCCTTGATTTCCACAGGAGCCTATCTGTGCCCAGTTGAGAGGCTGTATTTTCTCTCAATGGTGGCATTTTCAGGCAGAGGGCAGGAGCTCCAGGCATGTCCAGGGGCTGCTGTCTGGTAGATGTTTAATCTACCTGCCCCTGGACACTGGCCCACTCAGGGAGCACAGGGACTTACCCAGGTCCTCTCCGAGCCAGCAGAGCAGTCCAGGGCTCCCGTCTTTCAGAGTCCTTTGTTACCATTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCTGGGCACTTTGGGCCCTGAAGGTAGTTAAAGCCAGAGTGGTCCAGATCCCACTGTGTGTGATTTGACTTTGTGCACTCATGAGAGTTGTCCAGGTAGAGACTCGGCCTTCAGGAAGCATCTTGGGAGTTTCTGTTAGGGAGTCGGGAGCAAGGGGCTGGTCTCCCGCCATCTGGTTGTCCCTAGCCTGGGACTCAGTGCCTGATGGAGTCCTGCCCTCCCTCAGTGTCTACCCCTGAGCTGGCTGCCCAATCTGATTTCATCGTCGTGGCCTGCTCCTTAACACCTGCAACCGAGGGACTCTGCAACAAGGACTTCTTCCAGAAGATGAAGGAAACAGCTGTGTTCATCAACATCAGCAGGTATCCTAGGGCCACCTTACCCAGCAAGCCTGGAGAGGAGCCATCCCCACTGCTGCCATCTGGAGATTTTCTTCCCCGTGGGTTGTTGGTGAGACCCCAGGCTGAGCTTGCTGGTTTCCATAAACCAAACAACCAACTCAGAAATTCGTGGGAATACACGAGACCTCCGTACAGGGAAGAAGAGCCGTCAGAGTGGGCCTGGCCTGTCTGCTTCTCAGCAGTGGCCCCCACCCGGCGGGGCCTGGCACACAGCAGCGTGGCTTCAGGGAGTGTTCCCAGGGAGCCTCTGCAGGCCCATTATCCTCCACCACAAAGGGCTGGACTTGAGGATCTGAAGGGCCCTCTGGAGGCCGCCTCCCACACTGCTGAGCCTGGCTTTGTCTGGCTGTGGTTCAGTGATACTTTGAACCTTATGCTCCTGGGCGGACAGACCCTAAAACTCACGTGGTCGTAGCTCCTCACACTGTCCCTAGGGGTGCCTTCAGGCCACTGGGCATGTATGGAGGTCAGACCTTCCTTCTCTGCCACTCCAAGCCCTTCCTAGCTGGTGCCCCTTGAGCCTGTTTACATCAGTTTAGGGGAAGGGGGATTGGGTGAGGTCATCCTGAGGACTCGTCCACCCCAAAGGTACCTGTAATTACCAACATTTAGCTACAAAACAGGTGACCTGGGAATGGAAGAGTGAAACATGCAGGACCACAGGGCTCGCACTGCTGGCTGGCAGCAGTCACAGCTGCCGTGTACTGGGTGCCTGCATGTACCCAGGACAGCCCAGGACCGTGTATTACTCATTAGTGCACAAGTATTACTTAGTGCACAATATACAGTCTCTAGAAGATGACTTCTTGCCTTCAGTCGCCGCTCCCTTTGATGGCTGTGGTTAGGGGTGTGCTCGTTCCTCTGCCCTGGTTTAGACAGGTACCTGATAGCACACTGTGGTGCTTCTCAGTGGGGGTCTGGGGGTCAACCAGATCAGAAACACTTGGATGGGGCCTAACACAGATGCCCTTCTGGGCCCTGTTCATGCAGTAGAGCATGTAAGAAAGCTTTAATCCTCCCAACATGCCTGGGAGTTAGGTGGTATTCTCCTTATCTCACAGAGTAGATAATTTGAGACACAGATAATTCGAGGCACAGAGAATTTGAGACACTTGCCCAAGGTCACACAGCTAGAAGGAGGCAGGGCTGGAGTTCTCTGAGTATATAAGACTTACAGACATACTGTAAGTATACCTAAGACTTACTGCTTTAAAAGTCAGTGCCAAGTGAGTGGAAAAATTCATTCTGTAGGTTGTTCTGCCTCAAAGGTGGCCTGGGCGGAGGGATCTTCGGGGTACCCATGTCACCACTGTCATTCCCAGGGGCGACGTCGTAAACCAGGACGACCTGTACCAGGCCTTGGCCAGTGGTAAGATTGCAGCTGCTGGACTGGATGTGACGAGCCCAGAACCACTGCCTACAAACCACCCTCTCCTGACCCTGAAGAACTGTGGTAAGAACTGCACTTTCTGATGCAAACTCCCTGCTGCCCTGCAGGACCAGTGTTTTTGAGGGGGTCCCAAGGGGCCGGGTGTGGAGCTAGTGTGAGCAGGTGTTGAACCCAAAGGGACACACCAGGGATCGTAAATGTTTATGTTGTCAGTGACATGGGTGTATGACAGGAGCAGTCCTCTTGCGCATGCTCTGCTGGGTCTCTGTCCCTAAAGGAACAGAATGTAGGTGTGAGTGGATTTGTTTAAAAAAAAAGAGTGGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGGGTTCGAGACCAACCTGGCCGATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTGCATGCCTATAGTCCCAGCTGTTTGGGAGGCTGAGGCAG
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CTGGACCTCGTGGAAGCCCCTCTGGCTGTGTGGCTATGGACTCACGCAGAGCACTGTCGGCATCATCGGGCTGGGGCGCATAGGTGAGGCTCCCACCGGCCCGCTTGCCCGCCCCGGCTCTCACAGCGTGGTTTGCATCCCTGGCACCACGTGTCTGAAGGCTGAGAAGACCCACATGCTGTCAGGGCACTTTGCTTGCAGTAGAGATATCTCTAATGAGGGATACAGCTTTGTAAAACACAGGCAAATACATAAATAAACCAAAGCAGGATTCCTTAAGAACTCACCAGGTGATAAAAGCAAGTTGCCTAAGGGTCAGGGGGCTTCATGATTCCGGCTCCATAAAGAACAGATGAAGACTACAAATGTGTTGGGGCCGTTAGGAGTGGTTACCGTGAGAGAGCCCATTCCCCCGACACCTACTCCGGCTTGCGTTCTGGAAGGTATGTGACTCACAAAGCCCTAACTCGGGCCGGAGGGCTCAGTGGGCAGAGTTGATCTGCAGTTCTGCAGATGAGGCAGAGACACTTTTCTTCCAGTGGCCCTTATTTGGAGAAGCCTGGCAGAAGGGCGTGAGCCTAGCCAAGCAGCTATCTATTGGTGGTTCTCTGTCATCCTGCCTGGTGCAGGGGTGCGGGTGAGGGTGGAGAGTGTGGAGAACCTGTCTAGCCAACGAACAGCCCTGCCTCTCACTAGAGAGTTGCTTGGAGGAACCCAACAGCTTTGGGGCACGTTCTGAGCCTGAAAATCCAACTGTACAAATCTGTCTCAGCAGCAGCTTACATGAAAATTGTAAGTTTGGGGTGAGCTGGCAGTTTGGCAGTGCCACCAAAAAGTCAAATGGGGTCTGAGACTGCATTCACAGAAGCAGAGGGTCCAGGACAAAGGAGGGGACTGCTTGACCAGGTGTCTCCCTTGTGAAAACCTCTCCAGTTCTCAGAGGTTAGGAAAAACCTGAGTGGCTTTCCAGATGGCTTGGACCATGTGAGGACAGCATCAGCCAGTCACAGCCTCAGGGGAGCTGAGGTGCTGTCTCCAGATCCCTGGGGCAGTGTGGGCTGGCTGGGGGCTAGTTACAGTGGGGCAGCCAGCCCCCCACCCGCTTTGGAGGAGACAGGAGCAGGCAACTCGGGCTGTGCTGATGAAAAGGGTCTGCCCTGAGGGCCGCTGTTCCAGAAATGCTGGGTGGTGTCCCTACCCTTTGCGGGACTGGGAACGAGACATGGACTCTCCTTGCTCTAGGCCAGGCCATTGCTCGGCGTCTGAAACCATTCGGTGTCCAGAGATTTCTGTACACAGGGCGCCAGCCCAGGCCTGAGGAAGCAGCAGAATTCCAGGCAGAGTTTGGTAAGTGAAGCCTTGATTTCCACAGGAGCCTATCTGTGCCCAGTTGAGAGGCTGTATTTTCTCTCAATGGTGGCATTTTCAGGCAGAGGGCAGGAGCTCCAGGCATGTCCAGGGGCTGCTGTCTGGTAGATGTTTAATCTACCTGCCCCTGGACACTGGCCCACTCAGGGAGCACAGGGACTTACCCAGGTCCTCTCCGAGCCAGCAGAGCAGTCCAGGGCTCCCGTCTTTCAGAGTCCTTTGTTACCATTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCTGGGCACTTTGGGCCCTGAAGGTAGTTAAAGCCAGAGTGGTCCAGATCCCACTGTGTGTGATTTGACTTTGTGCACTCATGAGAGTTGTCCAGGTAGAGACTCGGCCTTCAGGAAGCATCTTGGGAGTTTCTGTTAGGGAGTCGGGAGCAAGGGGCTGGTCTCCCGCCATCTGGTTGTCCCTAGCCTGGGACTCAGTGCCTGATGGAGTCCTGCCCTCCCTCAGTGTCTACCCCTGAGCTGGCTGCCCAATTTGATTTCATCGTCGTGGCCTGCTCCTTAACACCTGCAACCGAGGGACTCTGCAACAAGGACTTCTTCCAGAAGATGAAGGAAACAGCTGTGTTCATCAACATCAGCAGGTATCCTAGGGCCACCTTACCCAGCAAGCCTGGAGAGGAGCCATCCCCACTGCTGCCATCTGGAGATTTTCTTCCCCGTGGGTTGTTGGTGAGACCCCAGGCTGAGCTTGCTGGTTTCCATAAACCAAACAACCAACTCAGAAATTCGTGGGAATACACGAGACCTCCGTACAGGGAAGAAGAGCCGTCAGAGTGGGCCTGGCCTGTCTGCTTCTCAGCAGTGGCCCCCACCCGGCGGGGCCTGGCACACAGCAGCGTGGCTTCAGGGAGTGTTCCCAGGGAGCCTCTGCAGGCCCATTATCCTCCACCACAAAGGGCTGGACTTGAGGATCTGAAGGGCCCTCTGGAGGCCGCCTCCCACACTGCTGAGCCTGGCTTTGTCTGGCTGTGGTTCAGTGATACTTTGAACCTTATGCTCCTGGGCGGACAGACCCTAAAACTCACGTGGTCGTAGCTCCTCACACTGTCCCTAGGGGTGCCTTCAGGCCACTGGGCATGTATGGAGGTCAGACCTTCCTTCTCTGCCACTCCAAGCCCTTCCTAGCTGGTGCCCCTTGAGCCTGTTTACATCAGTTTAGGGGAAGGGGGATTGGGTGAGGTCATCCTGAGGACTCGTCCACCCCAAAGGTACCTGTAATTACCAACATTTAGCTACAAAACAGGTGACCTGGGAATGGAAGAGTGAAACATGCAGGACCACAGGGCTCGCACTGCTGGCTGGCAGCAGTCACAGCTGCCGTGTACTGGGTGCCTGCATGTACCCAGGACAGCCCAGGACCGTGTATTACTCATTAGTGCACAAGTATTACTTAGTGCACAATATACAGTCTCTAGAAGATGACTTCTTGCCTTCAGTCGCCGCTCCCTTTGATGGCTGTGGTTAGGGGTGTGCTCGTTCCTCTGCCCTGGTTTAGACAGGTACCTGATAGCACACTGTGGTGCTTCTCAGTGGGGGTCTGGGGGTCAACCAGATCAGAAACACTTGGATGGGGCCTAACACAGATGCCCTTCTGGGCCCTGTTCATGCAGTAGAGCATGTAAGAAAGCTTTAATCCTCCCAACATGCCTGGGAGTTAGGTGGTATTCTCCTTATCTCACAGAGTAGATAATTTGAGACACAGATAATTCGAGGCACAGAGAATTTGAGACACTTGCCCAAGGTCACACAGCTAGAAGGAGGCAGGGCTGGAGTTCTCTGAGTATATAAGACTTACAGACATACTGTAAGTATACCTAAGACTTACTGCTTTAAAAGTCAGTGCCAAGTGAGTGGAAAAATTCATTCTGTAGGTTGTTCTGCCTCAAAGGTGGCCTGGGCGGAGGGATCTTCGGGGTACCCATGTCACCACTGTCATTCCCAGGGGCGACGTCGTAAACCAGGACGACCTGTACCAGGCCTTGGCCAGTGGTAAGATTGCAGCTGCTGGACTGGATGTGACGAGCCCAGAACCACTGCCTACAAACCACCCTCTCCTGACCCTGAAGAACTGTGGTAAGAACTGCACTTTCTGATGCAAACTCCCTGCTGCCCTGCAGGACCAGTGTTTTTGAGGGGGTCCCAAGGGGCCGGGTGTGGAGCTAGTGTGAGCAGGTGTTGAACCCAAAGGGACACACCAGGGATCGTAAATGTTTATGTTGTCAGTGACATGGGTGTATGACAGGAGCAGTCCTCTTGCGCATGCTCTGCTGGGTCTCTGTCCCTAAAGGAACAGAATGTAGGTGTGAGTGGATTTGTTTAAAAAAAAAGAGTGGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGGGTTCGAGACCAACCTGGCCGATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTGCATGCCTATAGTCCCAGCTGTTTGGGAGGCTGAGGCAG
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Subsets and Splits
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