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_2400
|
Given a variant located on Chromosome 1 and affecting CRB1 (crumbs cell polarity complex component 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Retinitis pigmentosa 12
|
AAACAAGAATGAGTGAATGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACAACTACAAAAGCAGTATTTTAGTTCTTGTAACTACCTCCATTTCAAGCTATATAAACAGAGATAAGAAAGACTATTTTTCTTCTAAGTCACATTGCTTCAGTATTTCCATGTAAGAAGTTATTATTGTTTTTACAACTTACACCGCTTTAAATTTACTAAATAATTGAGTCATTATGGGGAGGTGAGAGGGTTATTATTAACAAGTAATACATTCCAGAACTTCGGCAAGAACACCTGGAATGGGTTGGCAGCCTGTAGACATTACACTAATTCAGAGGTGGTACCTTAATTGCATGAATCTCCTAGCAAACATAACATGTAGGCATACCTATAAGAAGTTGTACATCTCTCCTTAACAGTTACTGTTCTGAGCCTGTGAAAGCAAGGCACTGTTGTAGGTGCTAAGTGTTCCCAACAGGTAACCTGCCTGTTTAAAAGCAAGAAGAATTCAGGATCAAATTTAGTATATTTCACTGTGAATTTTGATAAGTAAAATAAACACATAGGCCCTAGTAACTACTTCTCCAGAATTTTTTTCTGCCTAATTCATTAAAGTCAAGTTCTGAAAGATGAAAGCCCTCAAAAATACCTTCTAATGAGATTCAGGAATTGTTTATTAAAACCAAGATGTATACAAAGCTTCATATTTGCATTGCTAATTGACCTCTTTCAAAGCTGGTTGACATTTTTGGCTCTTTTGAAAAGTCTTTATGATATCCTTCTTTTTAAAGTAGAATTGATTAGCTCTTGCGGGAAGAGACACACTTAGCATCATATAAGCTAGTCTATCCACATTAGCTGCAGCACACACAACAGAACAAAATTCAATTCATTTTACACTTCCTGAATATTTATTAGTTATCTGATACCATGCACATACACAGTGGGTCAAAGGGCCTAAGCAACACTATTAAACTCTTTAAATATCAGTCCCTTCACATTACTAGATTTTGTCTTACAGTGAAGTTCCGCTTAGCTTCTAATACTTGTTCCGCCTTTTATGAGGATTCTTTAACATGTAAAGCTTTGTTGCCATATCAGAGAGCCACACTCTGAATTCACATGCAGTTACCATCGTGTGCTATATACAAAGCTCCTGGACAGCATTTGGCTTGCATTCTTCGAAGCTATGAATTATTACATAGGGAGCAGCAAGTCTTGGCAGGGCAACTGGAGTTCAGCTCTGAAAGCCAATAGAGAAATCACATGAGTGCTTGGGTAGTAGAGTGCTGTCCTTGCTTCCTGGCCTTTATAGAGATGCAATTTTCCTATGGCCTTTATTGATTTATTAGCAAAGCAGCAGCAAATCTAGTTATAGCAAGTTCTTTTCCAACCCAAAATTTATTGCCACCCCATGGCATAGATCTTATCTCACAAACGAAAACTGTGTAGAAATGGAAGATGTATAGCCATGCTTGTCACAGAACCCTCCAGCAGGAGCTTTTTACTGGAGAAAGTGATTCTTGCATAATGCAGCACAATTAAGCATTTGTAGCTCCTCCAGCCTGAGTACTTAATTAGCTTGGCATTGACTACATACATGAATTTATCAGAAAACTTTTCTTGAATGAGATGAACAAGATGAACAGCTGTGGCTCTTGCTTTTATCTCTCTAGACAGAGCAGATTACCCTCAACAGTCTGTGGGAATGAGAAGACAAATCTCACTTGCTACAATGGAGGCAACTGCACAGAGTTCCAGACTGAATTAAAATGTATGTGCCGGCCAGGTTTTACTGGAGAATGGTGAGTCACATTAGAGCCTTCTGGAAGAGAATTCTGAGCTAAAGAATGATGGGATTACTCAAAGTTCATTTTCTCCTCTAATTTTTTATCTCAGTTCCCATAGGAAAATCTATGCTGAAATAGAGGTTCAGACAGAATGAAACAATAAAAAAGAAGAAAAACTACAGTTTAGGTCAAAGGGGAGAACATTTTATTAGACAAAACTTCAAATAGGGAAAAATGATTTTTAAAAAATGTATAATGTGCTATTTTTCTTTCTTATAAGTACTTCTGAATTCATGTCTCTTTTTTGTTGCTAACTCTAATACATGATGCAAATATGGTTGCTGTCGAGGTAAAATAAATTACAACTAAAAGATTGCCTCATAGAATTGCCTACAACCCAAAAGTATATATACCTTATCCATATGAGTCTACTTTTCCCAGAGAAACTCTTCAACTGTTCTTCACCTCATACAGGAATTCTTAAAATGGAGTTGGTCAATGGCTTCAGGCAATCTGTGACCTGCTGAAAATACAGGAAAATTAGAATATGTATTTGAGTGGCTAGGGGTAAGTTCAGGGGTAGAAATAATGCATACTGAATAGCTTTTATCAGCTGCTTAAAGGGATTTATGTCCCCAAAACAGTTATGAACTGGGGCTCTATAGAATACAGATACTATATAAGCAGATAATTGTTAACCTTTTGTTTTAGCACTGTGCCATGCACCTTACAAATACCATCTCTAATTCTTATAGCTCTGTAAAGAAGGTTTCATGATTTTTATTTTGCATATGTGTAAACTGAGGCTGAGAGGTTGAGTGACGTATAAAGGGCCTATCCACACGTTTGCTGCAGTAAGGTTGAGCTGCCTTCAAAGCCTCTGCTCTTCTATTTGATGTGCCAGCATAACTGTATGAATAAATCTTTGCTCAACACAATTTCTTTTTTTTTAATGAGAAAGGTGTTCTTCCATCTCATGTATCATCGAGGGTAAGATAAGTGATCTCTGATCAAACTTCCTACATTGAAAAAATTAAATAAACTGAGCTCAGACATATTTGACAAAGATATTTTGACTGACTCAATATTTCCCATAAGCATAGTTAATAAAATAATGGATATGTGAGTGCTCCCTGGCAAGTGCCCTTTGGATTAATTGGAATTTTCTGTTTTCTAGCTGGCCTCTTTTGCATCACAAAGACACAGGTCTTTTGCCATTTTTACAAAACAGCGGGGAGTCTAGGGTATACCTGAATTTGACCCTTTTAACGTTCATTTTCATTTGCAGCCTGCCTTCTGTGGTTGGTTCTTTGTGGTACAGGCATTCCAAGTCTATATGTGCATGAAAGGAGATAGCCTTGAGTCACATTCTGCTTTCTGTTGCACCAATTTTGGTTCTGCAACTTATTAACTGAGATCGTTTAGTTGTATTCCAATTCCATGTATCTTTCAAAATATTGCAAATATTTTCTTGTCATTAATTTTGAGTAATCCAACTATTGTCAAGGGTGGGTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTG
|
AAACAAGAATGAGTGAATGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACAACTACAAAAGCAGTATTTTAGTTCTTGTAACTACCTCCATTTCAAGCTATATAAACAGAGATAAGAAAGACTATTTTTCTTCTAAGTCACATTGCTTCAGTATTTCCATGTAAGAAGTTATTATTGTTTTTACAACTTACACCGCTTTAAATTTACTAAATAATTGAGTCATTATGGGGAGGTGAGAGGGTTATTATTAACAAGTAATACATTCCAGAACTTCGGCAAGAACACCTGGAATGGGTTGGCAGCCTGTAGACATTACACTAATTCAGAGGTGGTACCTTAATTGCATGAATCTCCTAGCAAACATAACATGTAGGCATACCTATAAGAAGTTGTACATCTCTCCTTAACAGTTACTGTTCTGAGCCTGTGAAAGCAAGGCACTGTTGTAGGTGCTAAGTGTTCCCAACAGGTAACCTGCCTGTTTAAAAGCAAGAAGAATTCAGGATCAAATTTAGTATATTTCACTGTGAATTTTGATAAGTAAAATAAACACATAGGCCCTAGTAACTACTTCTCCAGAATTTTTTTCTGCCTAATTCATTAAAGTCAAGTTCTGAAAGATGAAAGCCCTCAAAAATACCTTCTAATGAGATTCAGGAATTGTTTATTAAAACCAAGATGTATACAAAGCTTCATATTTGCATTGCTAATTGACCTCTTTCAAAGCTGGTTGACATTTTTGGCTCTTTTGAAAAGTCTTTATGATATCCTTCTTTTTAAAGTAGAATTGATTAGCTCTTGCGGGAAGAGACACACTTAGCATCATATAAGCTAGTCTATCCACATTAGCTGCAGCACACACAACAGAACAAAATTCAATTCATTTTACACTTCCTGAATATTTATTAGTTATCTGATACCATGCACATACACAGTGGGTCAAAGGGCCTAAGCAACACTATTAAACTCTTTAAATATCAGTCCCTTCACATTACTAGATTTTGTCTTACAGTGAAGTTCCGCTTAGCTTCTAATACTTGTTCCGCCTTTTATGAGGATTCTTTAACATGTAAAGCTTTGTTGCCATATCAGAGAGCCACACTCTGAATTCACATGCAGTTACCATCGTGTGCTATATACAAAGCTCCTGGACAGCATTTGGCTTGCATTCTTCGAAGCTATGAATTATTACATAGGGAGCAGCAAGTCTTGGCAGGGCAACTGGAGTTCAGCTCTGAAAGCCAATAGAGAAATCACATGAGTGCTTGGGTAGTAGAGTGCTGTCCTTGCTTCCTGGCCTTTATAGAGATGCAATTTTCCTATGGCCTTTATTGATTTATTAGCAAAGCAGCAGCAAATCTAGTTATAGCAAGTTCTTTTCCAACCCAAAATTTATTGCCACCCCATGGCATAGATCTTATCTCACAAACGAAAACTGTGTAGAAATGGAAGATGTATAGCCATGCTTGTCACAGAACCCTCCAGCAGGAGCTTTTTACTGGAGAAAGTGATTCTTGCATAATGCAGCACAATTAAGCATTTGTAGCTCCTCCAGCCTGAGTACTTAATTAGCTTGGCATTGACTACATACATGAATTTATCAGAAAACTTTTCTTGAATGAGATGAACAAGATGAACAGCTGTGGCTCTTGCTTTTATCTCTCTAGACAGAGCAGATTACCCTCAACAGTCTGTGGGAATGAGAAGACAAATCTCACTTGCTACAATGGAGGCAACTGCACAGAGTTCCAGACTGAATTAAAATGTATGTGCCGGCCAAGTTTTACTGGAGAATGGTGAGTCACATTAGAGCCTTCTGGAAGAGAATTCTGAGCTAAAGAATGATGGGATTACTCAAAGTTCATTTTCTCCTCTAATTTTTTATCTCAGTTCCCATAGGAAAATCTATGCTGAAATAGAGGTTCAGACAGAATGAAACAATAAAAAAGAAGAAAAACTACAGTTTAGGTCAAAGGGGAGAACATTTTATTAGACAAAACTTCAAATAGGGAAAAATGATTTTTAAAAAATGTATAATGTGCTATTTTTCTTTCTTATAAGTACTTCTGAATTCATGTCTCTTTTTTGTTGCTAACTCTAATACATGATGCAAATATGGTTGCTGTCGAGGTAAAATAAATTACAACTAAAAGATTGCCTCATAGAATTGCCTACAACCCAAAAGTATATATACCTTATCCATATGAGTCTACTTTTCCCAGAGAAACTCTTCAACTGTTCTTCACCTCATACAGGAATTCTTAAAATGGAGTTGGTCAATGGCTTCAGGCAATCTGTGACCTGCTGAAAATACAGGAAAATTAGAATATGTATTTGAGTGGCTAGGGGTAAGTTCAGGGGTAGAAATAATGCATACTGAATAGCTTTTATCAGCTGCTTAAAGGGATTTATGTCCCCAAAACAGTTATGAACTGGGGCTCTATAGAATACAGATACTATATAAGCAGATAATTGTTAACCTTTTGTTTTAGCACTGTGCCATGCACCTTACAAATACCATCTCTAATTCTTATAGCTCTGTAAAGAAGGTTTCATGATTTTTATTTTGCATATGTGTAAACTGAGGCTGAGAGGTTGAGTGACGTATAAAGGGCCTATCCACACGTTTGCTGCAGTAAGGTTGAGCTGCCTTCAAAGCCTCTGCTCTTCTATTTGATGTGCCAGCATAACTGTATGAATAAATCTTTGCTCAACACAATTTCTTTTTTTTTAATGAGAAAGGTGTTCTTCCATCTCATGTATCATCGAGGGTAAGATAAGTGATCTCTGATCAAACTTCCTACATTGAAAAAATTAAATAAACTGAGCTCAGACATATTTGACAAAGATATTTTGACTGACTCAATATTTCCCATAAGCATAGTTAATAAAATAATGGATATGTGAGTGCTCCCTGGCAAGTGCCCTTTGGATTAATTGGAATTTTCTGTTTTCTAGCTGGCCTCTTTTGCATCACAAAGACACAGGTCTTTTGCCATTTTTACAAAACAGCGGGGAGTCTAGGGTATACCTGAATTTGACCCTTTTAACGTTCATTTTCATTTGCAGCCTGCCTTCTGTGGTTGGTTCTTTGTGGTACAGGCATTCCAAGTCTATATGTGCATGAAAGGAGATAGCCTTGAGTCACATTCTGCTTTCTGTTGCACCAATTTTGGTTCTGCAACTTATTAACTGAGATCGTTTAGTTGTATTCCAATTCCATGTATCTTTCAAAATATTGCAAATATTTTCTTGTCATTAATTTTGAGTAATCCAACTATTGTCAAGGGTGGGTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTG
|
Task1_train_2401
|
This variant affects the gene CRB1 (crumbs cell polarity complex component 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Leber congenital amaurosis 8
|
CCAACTATTGTCAAGGGTGGGTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACA
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CCAACTATTGTCAAGGGTGGGTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCTGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACA
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Task1_train_2402
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This variant affects gene CRB1 (crumbs cell polarity complex component 1) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Leber congenital amaurosis 8
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CCAACTATTGTCAAGGGTGGGTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACA
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CCAACTATTGTCAAGGGTGGGTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCTGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACA
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Task1_train_2403
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A variant has been detected on Chromosome 1 in CRB1 (crumbs cell polarity complex component 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Retinitis pigmentosa 12
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CCAACTATTGTCAAGGGTGGGTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACA
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CCAACTATTGTCAAGGGTGGGTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCTGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACA
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Task1_train_2404
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This is a variant in CRB1 (crumbs cell polarity complex component 1), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Retinitis pigmentosa
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GTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCA
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GTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGAGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCA
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Task1_train_2405
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A sequence alteration has been identified in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Leber congenital amaurosis 8
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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Task1_train_2406
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This variant affects the gene CRB1 (crumbs cell polarity complex component 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Retinitis pigmentosa 12
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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Task1_train_2407
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Consider a variant on Chromosome 1 in gene CRB1 (crumbs cell polarity complex component 1). Determine its clinical classification and disease relevance.
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Pathogenic; Pigmented paravenous retinochoroidal atrophy
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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Task1_train_2408
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A genomic change on Chromosome 1 affects CRB1 (crumbs cell polarity complex component 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Retinitis pigmentosa 12
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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Task1_train_2409
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Given this variant in gene CRB1 (crumbs cell polarity complex component 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Leber congenital amaurosis 8
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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Task1_train_2410
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Gene CRB1 (crumbs cell polarity complex component 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Retinitis pigmentosa 12
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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Task1_train_2411
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An alteration has been detected in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Retinal dystrophy
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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Task1_train_2412
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Gene CRB1 (crumbs cell polarity complex component 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Pigmented paravenous retinochoroidal atrophy
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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Task1_train_2413
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The following genetic variant occurs in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Leber congenital amaurosis 8
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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Task1_train_2414
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A variant on Chromosome 1 in gene CRB1 (crumbs cell polarity complex component 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Retinitis pigmentosa
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT
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Task1_train_2415
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This sequence change occurs on Chromosome 1, altering CRB1 (crumbs cell polarity complex component 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Macular dystrophy
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ACATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCA
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ACATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCACCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCA
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Task1_train_2416
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This genomic variant is located on Chromosome 1, within the CRB1 (crumbs cell polarity complex component 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Leber congenital amaurosis 8
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CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG
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CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCTCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG
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Task1_train_2417
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This alteration in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Pigmented paravenous retinochoroidal atrophy
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CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG
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CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCTCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG
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Task1_train_2418
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Given this variant in gene CRB1 (crumbs cell polarity complex component 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Retinitis pigmentosa 12
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CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG
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CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCTCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG
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Task1_train_2419
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The following genetic variant occurs in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Retinal dystrophy
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CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG
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CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCTCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG
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Task1_train_2420
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This genomic variant is located on Chromosome 1, within the CRB1 (crumbs cell polarity complex component 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Leber congenital amaurosis 8
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CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG
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CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCTCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG
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Task1_train_2421
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A mutation on Chromosome 1 affecting CRB1 (crumbs cell polarity complex component 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Retinitis pigmentosa 12
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CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG
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CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCTCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG
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Task1_train_2422
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Given a variant located on Chromosome 1 and affecting CRB1 (crumbs cell polarity complex component 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Leber congenital amaurosis 8
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TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC
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TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGCAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC
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Task1_train_2423
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A variant was discovered in gene CRB1 (crumbs cell polarity complex component 1), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Pigmented paravenous retinochoroidal atrophy
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TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC
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TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGCAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC
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Task1_train_2424
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A genomic change on Chromosome 1 affects CRB1 (crumbs cell polarity complex component 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Retinitis pigmentosa 12
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TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC
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TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGCAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC
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Task1_train_2425
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Gene CRB1 (crumbs cell polarity complex component 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Leber congenital amaurosis 8
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TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC
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TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGCAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC
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Task1_train_2426
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The following genetic variant occurs in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Retinitis pigmentosa 12
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TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC
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TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGCAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC
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Task1_train_2427
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This genomic variant is located on Chromosome 1, within the CRB1 (crumbs cell polarity complex component 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Leber congenital amaurosis 8
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TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC
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TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGCAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC
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Task1_train_2428
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A variant on Chromosome 1 in gene KIF14 (kinesin family member 14) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Microcephaly 20, primary, autosomal recessive
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GTCCCAGGCTTAACTGATCCTCCTGCCTCAGCCTCCCAAAGTCCTAGTATTATAGGCATGAGCCACTGTACTCGGCCATTAATTTCTTATCTGCTCCTTTTGCATATCAAGGAATTTTTAAGAAGGAATTTGTTAATATGGTAGATGACTAAGTATTCTCCAATATCAATTTTCCACTTCTTCCACAGATCCCTTGATTTCTGGCTTGGCACATAGGTGTCCAGAATTTTTTTAAAAAATACATTTCCTCATGATACTTGCAGCTAGATGTAGTCAAATGATAAAATTCTAGCCAGATATATAAATAGATGTGGCATATGGTGATTTCCAGAAACCTCCCTTAAAAGAAGGCAAACTTCAGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGGGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGTGAGTGCCTGTAATCCTAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGCAGAGGGGCAGTGAGCCAAGATCACGCCACTGCACTCCAACCTGGGTGACAAGAGTGAGACTCCAGCTCAAAAAAAAAAAAAAAAAAAGGCAAACTTTGCCCTATCCTTCTCACCACTCCTTCCACCCTGCTGTGCTGAGCTCAGATGGGGCTCCTCCATAGTGGGTCATGAAATCAGGGGCTACACTTTGGGCATGGCGGATGGGACCAATGGGAGGAGCCTGGATCCTGAGGACTCTGTGGATCAGAGCCACTGTGTCTACATCTAGATTTTATGTGAGAGAGAATAAGCTTTCATCTTACTTCTTCTTACAGCCAAACCTAATCTTATCTGATACAAGATAAGCAGGAAAACAAAATTATTTCCTTGTCTCTATGTCAGCAGAATTGTGGCCAATTCAGTCTGAGTTGAAATCCAATCCCATACCCAGAGAAAGACTCTGTCTCTCTTCCCAGTATCCCTTATTGAGGGCCAGCATGGTATAATGGCAGAGCATGAACTGGGCCCAAGACTGCCTGGGTCCAAATCCAACTCAGTCATTTACTAGTTAGGTAACATTGGATGGTATATTTATTTTCCCTGTGCCTCCATTTCCTCATCTACAAGATGGTGATAACAACAGTGCCCACTGCTGGGGTTGTTATAAGGATTAAATGAGTTAATATTTGTAAATCACTTAGAACTACTCATACATAGAGAGCCATGTAAGTCTTTGTTTAACAAATCAATTACAGACAACCACAGTCTCAGAACTTCAAAACAGAATGTACTTTTGAAAATCATACAGAGCTAATTTTGGGGAAGATATAGACAGTAGAAAGCCAATAAATAATTATTAAATGAATCCTTCAAATGATAATAAGCAAATCAATTTACCTGCAAAAATAACTGTAAGTAGCCTCCCAGTTTTTTAACTTCTTGTCTCAACTCATCCTCAAGTCTTGCTATGTTGGTACAAGGCAGTAAATCACTCAGCCAGTGTTTCATTAGCACTACTAGCTGCTCAAAAGCACATGCAGTCTGAATAGTAAGTGACTGGATTGCTCGATCAGAAGAAAACACTTTGAAAGAAGAAGAAAAATTACTGAATGAAATATTATCCAAATAAAAGAACTCATATATGATCATCATTAAAACATTTAACACAGTTAAAAGATGCATGCCAGATGTGCCAAATAATCACTCAAAACAAAGTGCAATGTGCAGAAAATAATCATTTATGTGAGTTAACAAAAGCAGTGAGATTGCTTACAGTTATCTTGACTTTCTTCATCTTGTTCTTCATGAGCCTTGGAAATGGCAAATAGCCCATTATAAATTTTAAGAAAACTATTAATTAGGCTGTCTGCTATAGTTCTTTCTTCATCATAACTCTGTCCAAAAAAATCTAACGAAGAACCAATCAATTCTTTGCAAATTCCAGGAAGAAAGGACTCTGCTGAATTTGAGTAAATAGTGCTTGATTTGTCCATTAAACCTACATCAACAGAAAATAGCCATTTTAAGCTTGTTTTCAGGAATAATACTTTCTTTTTTAAAAAAAGGGATCCTTACTTTATGTACTTCTGCATTACTGAAATGTATTACAACAACAAAGCATTTTTGTGTTCACTGTGGAATTAGAAAAACAAAACTATTAGTATATATAACATCGTATGCTATGTTGTACTTGTAAGTATATCTTCCATGCTATACTTGTGTATGTTGATTTCCAGGGTGCTCCATAATGCTAATTCTGCAGAAACTACCCCTCTGCTGCTTGCAAATATTACTCGTATACTATTGCTCTTCCAAAAATGTTCAGGCATAATACTTTCAAACAAATGTTTTATTGCAAGCATATTATAGGATCACTGATCAATAAATTCAAAGTAGGCTATACTTATTTCAATTCAGCCTCATTTCTATATGCTAAAGTGAAAACACAATTCCATTCACGGATCAATTAACCTCTCAACCGCATCAATCCATAGATTTAGTAGCTCCCTGACTATACTATGAGACAATAGAGAATCCAAATATCCCACGTAACCACTGGGTTAATCTCTTTCTTTACTCTATGGTAGGAATTAATTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTAAGAGACAGGGTTGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGGGACCATCCTGGCTAACGTGGTGAAACCCCATCTCTATTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTTCCAGCTACCCGGGAGGCTGAGGCAGGAGAATTGCTTGAAGCCAGGAGGCGGAGGTTACAGTGAGCCGATATGGCACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAAAAAAAAGAGAGACAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGTTACTCACAAGCGTGATCATAGCACACTGAGCCTCAAACTCCTGGGCTCAAGCAATCCCTTGGCCTCAGCGTCCACAGTAGGTGGGACAACAAGCATGTACCACTATGTCTGGTGGGATTAATTTTCCCTAAAGAACTGTAATTGATGAAAACAATGACAGTTACATAAAATTAGAAGTATAATTGGATTCATAAACTGGAAAAGTAGGCAATGATAAACTACATTAAAAGTAGTGTCTCAGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATGAAAAATCAGCCAGGCATGGTGGTGGGCGCCTGTAATTCCAGCTACCTGGGACGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAAAAAGAGCGAAACTCTGTCCTCAAAAAAAAAAAAACCATAATGTCTCAGTACTTCTACCTTACAATAGTTTCTCCTTGAGGTATACTACAATCAAGATAGGCTAAAACCGGCCGGGCACGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATATTTTTAAAAAATTAGCCGGGCCTGGTGGCAGGCGCCTGTAGCCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGCAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTCCGTCTAAAAAAAAAAAAAAAAGGCTAAAACCAACTGATTATCTACAGTTAATACAGCACATCTGTGAGGGATGGATTTTCTAAGCACTGTCTAAACCAGAAATAAATGAGAAGCTTGACTCATTCAGAGCCTCTGGAAATAACTTTATCCTGGAGTCCTAATATATTGAGTATAATTATTCTTATTTAA
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GTCCCAGGCTTAACTGATCCTCCTGCCTCAGCCTCCCAAAGTCCTAGTATTATAGGCATGAGCCACTGTACTCGGCCATTAATTTCTTATCTGCTCCTTTTGCATATCAAGGAATTTTTAAGAAGGAATTTGTTAATATGGTAGATGACTAAGTATTCTCCAATATCAATTTTCCACTTCTTCCACAGATCCCTTGATTTCTGGCTTGGCACATAGGTGTCCAGAATTTTTTTAAAAAATACATTTCCTCATGATACTTGCAGCTAGATGTAGTCAAATGATAAAATTCTAGCCAGATATATAAATAGATGTGGCATATGGTGATTTCCAGAAACCTCCCTTAAAAGAAGGCAAACTTCAGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGGGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGTGAGTGCCTGTAATCCTAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGCAGAGGGGCAGTGAGCCAAGATCACGCCACTGCACTCCAACCTGGGTGACAAGAGTGAGACTCCAGCTCAAAAAAAAAAAAAAAAAAAGGCAAACTTTGCCCTATCCTTCTCACCACTCCTTCCACCCTGCTGTGCTGAGCTCAGATGGGGCTCCTCCATAGTGGGTCATGAAATCAGGGGCTACACTTTGGGCATGGCGGATGGGACCAATGGGAGGAGCCTGGATCCTGAGGACTCTGTGGATCAGAGCCACTGTGTCTACATCTAGATTTTATGTGAGAGAGAATAAGCTTTCATCTTACTTCTTCTTACAGCCAAACCTAATCTTATCTGATACAAGATAAGCAGGAAAACAAAATTATTTCCTTGTCTCTATGTCAGCAGAATTGTGGCCAATTCAGTCTGAGTTGAAATCCAATCCCATACCCAGAGAAAGACTCTGTCTCTCTTCCCAGTATCCCTTATTGAGGGCCAGCATGGTATAATGGCAGAGCATGAACTGGGCCCAAGACTGCCTGGGTCCAAATCCAACTCAGTCATTTACTAGTTAGGTAACATTGGATGGTATATTTATTTTCCCTGTGCCTCCATTTCCTCATCTACAAGATGGTGATAACAACAGTGCCCACTGCTGGGGTTGTTATAAGGATTAAATGAGTTAATATTTGTAAATCACTTAGAACTACTCATACATAGAGAGCCATGTAAGTCTTTGTTTAACAAATCAATTACAGACAACCACAGTCTCAGAACTTCAAAACAGAATGTACTTTTGAAAATCATACAGAGCTAATTTTGGGGAAGATATAGACAGTAGAAAGCCAATAAATAATTATTAAATGAATCCTTCAAATGATAATAAGCAAATCAATTTACCTGCAAAAATAACTGTAAGTAGCCTCCCAGTTTTTTAACTTCTTGTCTCAACTCATCCTCAAGTCTTGCTATGTTGGTACAAGGCAGTAAATCACTCAGCCAGTGTTTCATTAGCACTACTAGCTGCTCAAAAGCACATGCAGTCTGAATAGTAAGTGACTGGATTGCTCGATCAGAAGAAAACACTTTGAAAGAAGAAGAAAAATTACTGAATGAAATATTATCCAAATAAAAGAACTCATATATGATCATCATTAAAACATTTAACACAGTTAAAAGATGCATGCCAGATGTGCCAAATAATCACTCAAAACAAAGTGCAATGTGCAGAAAATAATCATTTATGTGAGTTAACAAAAGCAGTGAGATTGCTTACAGTTATCTTGACTTTCTTCATCTTGTTCTTCATGAGCCTTGGAAATGGCAAATAGCCCATTATAAATTTTAAGAAAACTATTAATTAGGCTGTCTGCTATAGTTCTTTCTTCATCATAACTCTGTCCAAAAAAATCTAACGAAGAACCAATCAATTCTTTGCAAATTCCAGGAAGAAAGGACTCTGCTGAATTTGAGTAAATAGTGCTTGATTTGTCCATTAAAACTACATCAACAGAAAATAGCCATTTTAAGCTTGTTTTCAGGAATAATACTTTCTTTTTTAAAAAAAGGGATCCTTACTTTATGTACTTCTGCATTACTGAAATGTATTACAACAACAAAGCATTTTTGTGTTCACTGTGGAATTAGAAAAACAAAACTATTAGTATATATAACATCGTATGCTATGTTGTACTTGTAAGTATATCTTCCATGCTATACTTGTGTATGTTGATTTCCAGGGTGCTCCATAATGCTAATTCTGCAGAAACTACCCCTCTGCTGCTTGCAAATATTACTCGTATACTATTGCTCTTCCAAAAATGTTCAGGCATAATACTTTCAAACAAATGTTTTATTGCAAGCATATTATAGGATCACTGATCAATAAATTCAAAGTAGGCTATACTTATTTCAATTCAGCCTCATTTCTATATGCTAAAGTGAAAACACAATTCCATTCACGGATCAATTAACCTCTCAACCGCATCAATCCATAGATTTAGTAGCTCCCTGACTATACTATGAGACAATAGAGAATCCAAATATCCCACGTAACCACTGGGTTAATCTCTTTCTTTACTCTATGGTAGGAATTAATTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTAAGAGACAGGGTTGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGGGACCATCCTGGCTAACGTGGTGAAACCCCATCTCTATTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTTCCAGCTACCCGGGAGGCTGAGGCAGGAGAATTGCTTGAAGCCAGGAGGCGGAGGTTACAGTGAGCCGATATGGCACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAAAAAAAAGAGAGACAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGTTACTCACAAGCGTGATCATAGCACACTGAGCCTCAAACTCCTGGGCTCAAGCAATCCCTTGGCCTCAGCGTCCACAGTAGGTGGGACAACAAGCATGTACCACTATGTCTGGTGGGATTAATTTTCCCTAAAGAACTGTAATTGATGAAAACAATGACAGTTACATAAAATTAGAAGTATAATTGGATTCATAAACTGGAAAAGTAGGCAATGATAAACTACATTAAAAGTAGTGTCTCAGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATGAAAAATCAGCCAGGCATGGTGGTGGGCGCCTGTAATTCCAGCTACCTGGGACGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAAAAAGAGCGAAACTCTGTCCTCAAAAAAAAAAAAACCATAATGTCTCAGTACTTCTACCTTACAATAGTTTCTCCTTGAGGTATACTACAATCAAGATAGGCTAAAACCGGCCGGGCACGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATATTTTTAAAAAATTAGCCGGGCCTGGTGGCAGGCGCCTGTAGCCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGCAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTCCGTCTAAAAAAAAAAAAAAAAGGCTAAAACCAACTGATTATCTACAGTTAATACAGCACATCTGTGAGGGATGGATTTTCTAAGCACTGTCTAAACCAGAAATAAATGAGAAGCTTGACTCATTCAGAGCCTCTGGAAATAACTTTATCCTGGAGTCCTAATATATTGAGTATAATTATTCTTATTTAA
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Task1_train_2429
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Consider a variant on Chromosome 1 in gene KIF14 (kinesin family member 14). Determine its clinical classification and disease relevance.
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Pathogenic; Microcephaly 20, primary, autosomal recessive
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AGCTGAGATGGTGCCACTACACTCCAGCCTGGGCAACAGAGCAAAACTCTGAAATCAAAAAATAAATAAATAAAGATTCATTACAAAGCTCAAGTAATTACGACCATGGGGTATTAGTAGGAAGAAACAGATTCTGATATTTTTAGAAATTTTTTGTAGGAGCACTACAGATTCCAAAAGAAGCAATAAACTATTTAATATTTGGTACTGGGAGAAATGGCTATTCATGTGGAAAATAAATGAATTTAGATCCCTAATTCACACCAAATAAAAAATTCCAGACATTCAATAACTTAAATGTGAAAGCAAAACTTCAAAACATCTAGAAGAAAATTTAGAACATCTCTATGACCTCAATGTACAACAGTCTTTTTTTTTTTTTTTTTTTTTGAGTTAGAGTCTCACTCTATTGCCTAGGGTGGAGTATAGCAGAGTCATCTTGGCTCACTGTAGCTTCCACCTCCCAGGTTCAAGTGATTCTTATGCCTCAGCCTCCCAAGTAGCTGAGACTATAGGTGCCCACCACCATGCCGGGCTAATTTTTGTATTTTCAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATGTTGAACTCCTGGTCTCAAGTAATCTGCCGCCTCAGCCTCCCAAACTGTTAGGATTATAGGCGTGAGCCACCGCACCTGGCCAGAACACTCTATCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACATAGTCTCGCTCTGTCACTCAGGCTGAAGTACAGTGGCATGATGATCTCGGCACACTGCAACATCCACCTCCTAGGTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCAGGTACCACCACGCCCAGAAAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGACTCAAACTCCTGAGCCCACACACCTGTGCTAGGATTACAGGCATAAGCCACCACGCCCAGCCAGAACATTCTTTCTTTAAGACATAAAAACTGACAATCATAAAGGAAAAGACTGATGCCAGGTACTACAATAAAATTAAGAACTTCAATCAATCAAAGGCACCAGAGAGAGTAAAAAGATGTTACACGTTAGAAAAAAAGATATTTATACCAAAAAGCTCACGAAAGATTGGCAACTCCTACAAATTATTAAGAAATAAGCAAATCAGTTGAAAAATCAACAAAAGATATGAAGAGGCAAGTTACAATAGTAAACAAAAATGGCCAATCAACACATGAAAAGATGTTCAACCTTATTATTAATCAAAGAAATGTAAAATGAATCCATAATGATATACTATTTAGTGTTCATCAGATTGGCATAAAGTCTGACAGTACTAAGTATTGGCAACGATGTGGAGTAACAGGTATTCTCAAGGCCAATGGGAGTAAAAATTCATTTTGGAAAATAATTTGAAATTAGCTACTAAAGTTGAATATGCACATATTCTACAACCTAGTATCTCTACTCTCAGACATACAATTTAAAAGCACTTCCTAAACTTTATAAGAGATAAACTCATACAATGGAATACTTCATAGCAGTGAAAATAAAACAGGAACCAATGTACACAAATCTTGGAAACACAATGCAGAGTCAAAAAAGTTTACATACGCTATCATTCCAACAATATATACAAGTATTCCATTCATATGAACAAAATTCACATAAAGTAACATTTTTAAATTGGTCAATCCAACCAAAAATTCTGTTATGTAAGATAGATAGTTTACTTGCATGTGCATCATTATAATTGCAAGAAAATAAATTATTCTTCAATCAACAGATCAAGTATGCCAAAACAAAAACAGAGAGAGCATTACACTGTACTTTATATTGAGAGTAACTGACCTATCATCCTTATAACACACTCAGAATGTATGTTTTTCCTGACTAAACAATGGGTTTGAAGAATTCTACCAAACGATCAGTATCAACGAATATGCCATATGAAGGAAACCACATGTTATCAAGATATAGAACAGGTGCCTTTTCTTTTTTTTTAGAGGATTAACATACCAATGATCATCAGCAATCAGCACCCCAGATAACTGAATATCATGGCTTGAGTTTGGTTTATACTTTCCAACTGTAGTTGTTCCTTCTTTTATCATATATAGCAGCATCTCAGATAGTTGTGGATCTTCATTCAGATTAACAAGGTTTGGTAAATGATTGTCCATTTGAAACATAATTCCTGCTTTCTGGTAGAAGTCAGAAAAAGAAATTAATCTTAATCACAGTATGAAATTGTTAAATTCACCTAAAACAAATGGTCTATATTAAACATTAAAACAATTCTATATGAAGTCTCACTAAATTAAAGGTTATTTATTTATTTTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAACGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGAGACTACAGGCGCATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCGTCATGTTGATCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCGGCCATAAAGGTTTTTTAGACTCTCTCCTCCTTCCTTAGAATCTCTCCTTTGTGACCTCCCTACCTTCTTTGTCCTTCACCATCCTCAGTCTACTCATACATCAATCTATCATCACCAAATTGTGTCTTCTTATTGACTGACCGTCTTTAGAATAGATCAGTTTGTTTTGTTGCATCTTCATTGCCTTCACCACAGGCCCCTGTCAACTCACACCAAAACTACTGAAGCAGCCTCTTGATCACCGTCAACAGCTTCTGTTTTCAATCCATCTTATATCCTATGCCAGGTTAATTCTCTCGAAAGGGTGCTCTCAAAATGTAAATTCCCTGGTCACTTTTTAACAGCTTCTCACTTCCTACAGGATAAAACTTAATTTCCTTGGCCTGGAAATCAAGTCCTTCATAAACTAATCATAACATATCTTTCCAATTGTATCTCCTTATGATCTCATATAAACTGCTTCCAGTAAAACTGATCTACGTACCCTTTCTAAAGACAACTCAAACTTTTCTACCTTTACTTTCAGAGAATTTTCTCTTCCAAGAATGTGCTCTTCCTTTTCTCTTCCTATTAAAATCTTACCCAAACTTCAAAGCCCATCTCAAATGCCACCTCTTTTATGAGATTGGATTGGCCATGCGCAAGGAATTTTCCCTTCTTCTCCTGAATTCTTATAGTACTCCCCCACTACCAATCACTTGAAATACTTTTCATTACATTAGGTTCAACCATATGAAACTGCCAGTGTTCAACCATGCTTTACCTACAAAAATGGCAATTGCTTATGGCTCAATCTACTGAAATCACATTGCATTTCAGTCTTCTATTTACGTTTTGTAAATCTCTCTCTGGATCACAAGCTCTCTGAGGGATGAAACTGTGTTTAATCACCTTGGCTTCCCCTGTTCCTGAAAAGCATAGACATTTAATATATATTTGTAGAACCAAAGTAAATATAACAAGATGGTTTATTCATACTTTAACTTTCCAACTAGTTTATGGGCTGGCTCTAAGCAACCAGTCTTGATCTTAACATTTCTTTATATTAATTTTCCTTACGGTATTGCTTTGTACAGAGTCAGTATATAGTAAGTATTTGAAACATTAAATTTACATGCATTGGCATATTGGCAATATTTATTTCTTGGCATATTTCTTTTATTTTCTAATCAGTTTAGAAAGTTGAAATAATACCTGTAACTCTTTTGTTTCTTGAAGTTTTCTTTTTTCAGCTTGTTCAAACTTTTCTTTCCACACTCTTTCCAAAGACAAAGAAAATAACAGAGTTAAAAACATCCAGATGTATAAGATTGAGAGTCAAGAGACAATCAATGAAAATTAGGCAACTACCTAGTAATATTTAAAATATGATAATCTGGGAGTGGGCTGCTCTATTCATAAGGAAGGTCGGAAAAATACTCAGTATCCTCTTG
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AGCTGAGATGGTGCCACTACACTCCAGCCTGGGCAACAGAGCAAAACTCTGAAATCAAAAAATAAATAAATAAAGATTCATTACAAAGCTCAAGTAATTACGACCATGGGGTATTAGTAGGAAGAAACAGATTCTGATATTTTTAGAAATTTTTTGTAGGAGCACTACAGATTCCAAAAGAAGCAATAAACTATTTAATATTTGGTACTGGGAGAAATGGCTATTCATGTGGAAAATAAATGAATTTAGATCCCTAATTCACACCAAATAAAAAATTCCAGACATTCAATAACTTAAATGTGAAAGCAAAACTTCAAAACATCTAGAAGAAAATTTAGAACATCTCTATGACCTCAATGTACAACAGTCTTTTTTTTTTTTTTTTTTTTTGAGTTAGAGTCTCACTCTATTGCCTAGGGTGGAGTATAGCAGAGTCATCTTGGCTCACTGTAGCTTCCACCTCCCAGGTTCAAGTGATTCTTATGCCTCAGCCTCCCAAGTAGCTGAGACTATAGGTGCCCACCACCATGCCGGGCTAATTTTTGTATTTTCAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATGTTGAACTCCTGGTCTCAAGTAATCTGCCGCCTCAGCCTCCCAAACTGTTAGGATTATAGGCGTGAGCCACCGCACCTGGCCAGAACACTCTATCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACATAGTCTCGCTCTGTCACTCAGGCTGAAGTACAGTGGCATGATGATCTCGGCACACTGCAACATCCACCTCCTAGGTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCAGGTACCACCACGCCCAGAAAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGACTCAAACTCCTGAGCCCACACACCTGTGCTAGGATTACAGGCATAAGCCACCACGCCCAGCCAGAACATTCTTTCTTTAAGACATAAAAACTGACAATCATAAAGGAAAAGACTGATGCCAGGTACTACAATAAAATTAAGAACTTCAATCAATCAAAGGCACCAGAGAGAGTAAAAAGATGTTACACGTTAGAAAAAAAGATATTTATACCAAAAAGCTCACGAAAGATTGGCAACTCCTACAAATTATTAAGAAATAAGCAAATCAGTTGAAAAATCAACAAAAGATATGAAGAGGCAAGTTACAATAGTAAACAAAAATGGCCAATCAACACATGAAAAGATGTTCAACCTTATTATTAATCAAAGAAATGTAAAATGAATCCATAATGATATACTATTTAGTGTTCATCAGATTGGCATAAAGTCTGACAGTACTAAGTATTGGCAACGATGTGGAGTAACAGGTATTCTCAAGGCCAATGGGAGTAAAAATTCATTTTGGAAAATAATTTGAAATTAGCTACTAAAGTTGAATATGCACATATTCTACAACCTAGTATCTCTACTCTCAGACATACAATTTAAAAGCACTTCCTAAACTTTATAAGAGATAAACTCATACAATGGAATACTTCATAGCAGTGAAAATAAAACAGGAACCAATGTACACAAATCTTGGAAACACAATGCAGAGTCAAAAAAGTTTACATACGCTATCATTCCAACAATATATACAAGTATTCCATTCATATGAACAAAATTCACATAAAGTAACATTTTTAAATTGGTCAATCCAACCAAAAATTCTGTTATGTAAGATAGATAGTTTACTTGCATGTGCATCATTATAATTGCAAGAAAATAAATTATTCTTCAATCAACAGATCAAGTATGCCAAAACAAAAACAGAGAGAGCATTACACTGTACTTTATATTGAGAGTAACTGACCTATCATCCTTATAACACACTCAGAATGTATGTTTTTCCTGACTAAACAATGGGTTTGAAGAATTCTACCAAACGATCAGTATCAACGAATATGCCATATGAAGGAAACCACATGTTATCAAGATATAGAACAGGTGCCTTTTCTTTTTTTTTAGAGGATTAACATACCAATCATCATCAGCAATCAGCACCCCAGATAACTGAATATCATGGCTTGAGTTTGGTTTATACTTTCCAACTGTAGTTGTTCCTTCTTTTATCATATATAGCAGCATCTCAGATAGTTGTGGATCTTCATTCAGATTAACAAGGTTTGGTAAATGATTGTCCATTTGAAACATAATTCCTGCTTTCTGGTAGAAGTCAGAAAAAGAAATTAATCTTAATCACAGTATGAAATTGTTAAATTCACCTAAAACAAATGGTCTATATTAAACATTAAAACAATTCTATATGAAGTCTCACTAAATTAAAGGTTATTTATTTATTTTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAACGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGAGACTACAGGCGCATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCGTCATGTTGATCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCGGCCATAAAGGTTTTTTAGACTCTCTCCTCCTTCCTTAGAATCTCTCCTTTGTGACCTCCCTACCTTCTTTGTCCTTCACCATCCTCAGTCTACTCATACATCAATCTATCATCACCAAATTGTGTCTTCTTATTGACTGACCGTCTTTAGAATAGATCAGTTTGTTTTGTTGCATCTTCATTGCCTTCACCACAGGCCCCTGTCAACTCACACCAAAACTACTGAAGCAGCCTCTTGATCACCGTCAACAGCTTCTGTTTTCAATCCATCTTATATCCTATGCCAGGTTAATTCTCTCGAAAGGGTGCTCTCAAAATGTAAATTCCCTGGTCACTTTTTAACAGCTTCTCACTTCCTACAGGATAAAACTTAATTTCCTTGGCCTGGAAATCAAGTCCTTCATAAACTAATCATAACATATCTTTCCAATTGTATCTCCTTATGATCTCATATAAACTGCTTCCAGTAAAACTGATCTACGTACCCTTTCTAAAGACAACTCAAACTTTTCTACCTTTACTTTCAGAGAATTTTCTCTTCCAAGAATGTGCTCTTCCTTTTCTCTTCCTATTAAAATCTTACCCAAACTTCAAAGCCCATCTCAAATGCCACCTCTTTTATGAGATTGGATTGGCCATGCGCAAGGAATTTTCCCTTCTTCTCCTGAATTCTTATAGTACTCCCCCACTACCAATCACTTGAAATACTTTTCATTACATTAGGTTCAACCATATGAAACTGCCAGTGTTCAACCATGCTTTACCTACAAAAATGGCAATTGCTTATGGCTCAATCTACTGAAATCACATTGCATTTCAGTCTTCTATTTACGTTTTGTAAATCTCTCTCTGGATCACAAGCTCTCTGAGGGATGAAACTGTGTTTAATCACCTTGGCTTCCCCTGTTCCTGAAAAGCATAGACATTTAATATATATTTGTAGAACCAAAGTAAATATAACAAGATGGTTTATTCATACTTTAACTTTCCAACTAGTTTATGGGCTGGCTCTAAGCAACCAGTCTTGATCTTAACATTTCTTTATATTAATTTTCCTTACGGTATTGCTTTGTACAGAGTCAGTATATAGTAAGTATTTGAAACATTAAATTTACATGCATTGGCATATTGGCAATATTTATTTCTTGGCATATTTCTTTTATTTTCTAATCAGTTTAGAAAGTTGAAATAATACCTGTAACTCTTTTGTTTCTTGAAGTTTTCTTTTTTCAGCTTGTTCAAACTTTTCTTTCCACACTCTTTCCAAAGACAAAGAAAATAACAGAGTTAAAAACATCCAGATGTATAAGATTGAGAGTCAAGAGACAATCAATGAAAATTAGGCAACTACCTAGTAATATTTAAAATATGATAATCTGGGAGTGGGCTGCTCTATTCATAAGGAAGGTCGGAAAAATACTCAGTATCCTCTTG
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Task1_train_2430
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A variant was discovered in gene DDX59 (DEAD-box helicase 59), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Orofaciodigital syndrome V
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TGGCAACACTGGGACCAAATTTTTTTAAAAGTCTAATGTTCTGGTCTCTAAAATACATAATTGAGGAAACCACTGCATTGCTGCACCCCAGACAACAGAAGAGCAGACATGTGAGACAAGGAAGTTGCCAAAGGAAAGATCTTAAGGAATGAGAAGCAGAAGTCAAGATTCAGAGAGGCAGGAAGAACCAGTAACAGGAGTCTGAAAATTGTGTGGCGAGAGGGAAGTAAAGGGAAGGGCGCTGATAGCCGGCTTCTCCCCTATTGGGTATTTGACATATGCAACTGCGCTTAACTCTCATAATAAGCCTGTGAGTTAGGGGCTCTTTCCTCCACCTCTAACTCATCACCTGGCCTTAAGAAAGTGTGGGTTTCAAGAAGGGTGGCCCACAATGACCGACGCAATAAAAAAGTTTAAAGTGAGAGCTGGCAGAACATGTGGTTTAAGAAGGTCAACAGAGACCACGGGAAGATCATGTATGTACAGTGGTGGGAAGAAGCCAGACTGCCAGCAAATTAAGTAAACCAGTGGGGTTATACTATAGCTAATATTTTTTTGCATTACTACAGTCTCTCAAATAATATTATTTTTGTTAAAATAATAGTTTCCTTTCCAGAACTTTGGCAGGCAGAGGCAGGAGGATCATTTGAGGCCAGGAGTTTGAGACCAGCCTGAGCAACATAGTGAGACAACGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGTTGGAGCCTGGGAGGTTAAGGCTGTAGTGAGCCATGATCATGCCACTGCACTCCAGTATAGGGTGACAGGGTGAGATGCTATCTCAAAAAAACAAAACAAAACTACATATCCTGTAAATGCTGTTTTTCTGGCCATGCCACTTTTATTTATAAACAAGTAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGCGGATCACAAAGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTTCCAGCTACTTGGGAGGCTGAGGAAAGGGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAACAAAAACAAAAACAAAAACAAACAAAAAACCTATTAATTGAATTAGCAGGGCAACATTCATTCAATAACACAATGACATTATTTTGATAAGTAGCCTATCTTATTTTTAAAACAGCATTAACCAAGCAGAAGGTAAAACAACTGAGAATGAAAGTAGACATTTCATATTTATCTTTCAAAAGTGGTTCTGAAAATTTCTTCCAGTTTCTATCATTTACATTTTTCCTAATTCTCATTTATTCAACAGTAATTTAAGTGCCAATGTGCTTGTGGAACTGTGGGGGAACCAAGTAAAACAATCACTGATCCGAGTCAGAGTCTTTGTGGAGGTTTCTGGTTCTGACAGTAGCTCTGAGGACTGTTTATTTTAAAAAGAAAAAAGAAACTTCATCCAGAAAAGAAAACACTGTCTTTTATTTAATAATTCATTTTCTGATGTTTTTAATTTATAAGAATTAAGGGAAATAAATACAATATAGTTATATAAATTTTATTAAATTAAAAATATCTTAAAATTTTTAAAATTCATGTACATTTCCATTTATGCAAACCATAATTTTTTGCTGACTATATACAATAAAAAAAAATATTCAAGTGGCAGAGAAAATCATTTCTGAGAATTACTTTTATCATGTTTTCTGATAATATCCATAAGATTAGCTCCTGTAACCAGATCATTCTGTGTCTGTTTATCTTTCTGTTGTTCCTTTCTCTTCTGGTCATGAAGGTATGGGGAATTTAATAACTGAGGGGGAAGAATGGATCCTGTGGGCTTTACTCGTTTTGCAATATCCCAGAAGAGTCTTTTTGAATTATTATTGATGAAAGTAATCGCTGTTCCATTTTGACCTAATCTTCCTACTCTTCCAATCTGAAATAAAATGCAAAGAACATTTTCAAGATGTCCATGTAAAATCTTAGTGTCTTTTGAAAGAAAATGAATAATATTACTTAAAGTAGCATTACTGGCTGGGTGCAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGCAAAATCCTGTCTCTACTAAAAACACAAAAATTAGCCAGGCATGGTGGCAAACACCTGTAAATTCTAGCTACTTGGGAGGCTGAGGCAAAAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGGCAGAAAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGAGCTTTACTAAGATTAACCTTCATCCAGACAGCATTTTTTGAATTATGCATCTCAATATATCTGTGAAATCAATTTAGTAGGCCTCCACCAGCATATTTTTAATGGAACAGACCAAACAGAAAATAAGAGAGTGATCACATAAAATAAAAGTAAGTATCATTTGTGAAACTTGTGTTTTAGTTATACCTGTATGGGTGGTGTTGGGGGTAATGACATAAAGATGTTTCTTATTGTGGGTGGGTTAAGGTCAAAAAATTCTGAAAGCCCCTGCATTAAGAGCAAGAGGACTATTTACTTCCAAGGCTACTTAAGAGGCCTTGAAATGTGAGATTTATACTAAATCATCTTTGCATAAAGTTATTTGTCTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGCGCAATGGTGCAATGTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCATATCTGGATAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGACCAGGCTGGTCTTAAACTCCTGACCTTGTGATCTACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCCCGGCTAGTTATTTCTCATGTTGAGAGAATTAAATGGACACAAATTTATGGAGTATCAATAAGGCACAAAACCTACTTGTCTCCAAATAGATAATGAAAATATACTAAGAAACTCTTCAAAAGAGGGGGAAAATACACAATCATGGTCAATTTCTGCTCCTTAACTGAAATGTAAAACTTAAAGTCTATATTCAGAAATATTTAAATGAGTAGACAGTTTCTGCTAATACAGAGGGCATTTTTAACACTGTAAAAGAAACTTCTAAAAAAGTTAAGAAGGGAAGCCTCTAGGGAATGAGACAGAGGAGAAGAGAGGCAAGCAAATATTGTTTTTCAGTAACAGCTTTTATTTATACCTGACTTAATTAAATTACTGAATTGTTCCAATAAAAATAAAAATAAAAAAGTAGTTATTTCTCTATAAAAGTCCACAGAAAAACAAGTAGAAATAAAAAAATTCAAAAAGACAAAGAAAAGATTATACAAAGTAGCTTCAGGCTGGACATGGCGGCTCATGCCTATAATCCCAGCATTTTGAGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGGTTCAAGACCAGCCAGGGCAACATAGCAATACCCCATCTCTACAAAAAACAGAAAAATTAGCCAGGTGTGGTGGCATGTACTTGTAGTCCCAGCTACTCAGGAGGCTGAGATGGAAGAATCGCCTGAGTCCATGCATTCAAGGTTACAGTGAGCTATGACTGTGCCACTGTACTCCAGCCCGGGCAACAGAAGGAGACCCCGTCTCTTAAAAAAACAAACAAACAAAAAAAAAACTTGCAAATCATGTTTTTGGCAAGTCTTCTAGAGTATACAAAGAACTTTCACAACTCAAAAATAAAAACCCAATTTAAAAATGGACAACAAATTTGAATAGACATTTCTCCAAAGAAGTTACAAAAATGATCAATAAGTACATGACATAATGTTCAACATCATTAGTCATTAAAGAAATGCAAGTCAAAATATAAGGAGG
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TGGCAACACTGGGACCAAATTTTTTTAAAAGTCTAATGTTCTGGTCTCTAAAATACATAATTGAGGAAACCACTGCATTGCTGCACCCCAGACAACAGAAGAGCAGACATGTGAGACAAGGAAGTTGCCAAAGGAAAGATCTTAAGGAATGAGAAGCAGAAGTCAAGATTCAGAGAGGCAGGAAGAACCAGTAACAGGAGTCTGAAAATTGTGTGGCGAGAGGGAAGTAAAGGGAAGGGCGCTGATAGCCGGCTTCTCCCCTATTGGGTATTTGACATATGCAACTGCGCTTAACTCTCATAATAAGCCTGTGAGTTAGGGGCTCTTTCCTCCACCTCTAACTCATCACCTGGCCTTAAGAAAGTGTGGGTTTCAAGAAGGGTGGCCCACAATGACCGACGCAATAAAAAAGTTTAAAGTGAGAGCTGGCAGAACATGTGGTTTAAGAAGGTCAACAGAGACCACGGGAAGATCATGTATGTACAGTGGTGGGAAGAAGCCAGACTGCCAGCAAATTAAGTAAACCAGTGGGGTTATACTATAGCTAATATTTTTTTGCATTACTACAGTCTCTCAAATAATATTATTTTTGTTAAAATAATAGTTTCCTTTCCAGAACTTTGGCAGGCAGAGGCAGGAGGATCATTTGAGGCCAGGAGTTTGAGACCAGCCTGAGCAACATAGTGAGACAACGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGTTGGAGCCTGGGAGGTTAAGGCTGTAGTGAGCCATGATCATGCCACTGCACTCCAGTATAGGGTGACAGGGTGAGATGCTATCTCAAAAAAACAAAACAAAACTACATATCCTGTAAATGCTGTTTTTCTGGCCATGCCACTTTTATTTATAAACAAGTAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGCGGATCACAAAGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTTCCAGCTACTTGGGAGGCTGAGGAAAGGGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAACAAAAACAAAAACAAAAACAAACAAAAAACCTATTAATTGAATTAGCAGGGCAACATTCATTCAATAACACAATGACATTATTTTGATAAGTAGCCTATCTTATTTTTAAAACAGCATTAACCAAGCAGAAGGTAAAACAACTGAGAATGAAAGTAGACATTTCATATTTATCTTTCAAAAGTGGTTCTGAAAATTTCTTCCAGTTTCTATCATTTACATTTTTCCTAATTCTCATTTATTCAACAGTAATTTAAGTGCCAATGTGCTTGTGGAACTGTGGGGGAACCAAGTAAAACAATCACTGATCCGAGTCAGAGTCTTTGTGGAGGTTTCTGGTTCTGACAGTAGCTCTGAGGACTGTTTATTTTAAAAAGAAAAAAGAAACTTCATCCAGAAAAGAAAACACTGTCTTTTATTTAATAATTCATTTTCTGATGTTTTTAATTTATAAGAATTAAGGGAAATAAATACAATATAGTTATATAAATTTTATTAAATTAAAAATATCTTAAAATTTTTAAAATTCATGTACATTTCCATTTATGCAAACCATAATTTTTTGCTGACTATATACAATAAAAAAAAATATTCAAGTGGCAGAGAAAATCATTTCTGAGAATTACTTTTATCATGTTTTCTGATAATATCCATAAGATTAGCTCCTGTAACCAGATCATTCTGTGTCTGTTTATCTTTCTGTTGTTCCTTTCTCTTCTGGTCATGAAGGTATGGGGAATTTAATAACTGAGGGGGAAGAATGGATCCTGTGGGCTTTACTCGTTTTGCAATATCCCAGAAGAGTCTTTTTGAATTATTATTGATGAAAGTAATCGCTGTTCCATTTTGACCTAATCTTCCTACTCTTCTAATCTGAAATAAAATGCAAAGAACATTTTCAAGATGTCCATGTAAAATCTTAGTGTCTTTTGAAAGAAAATGAATAATATTACTTAAAGTAGCATTACTGGCTGGGTGCAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGCAAAATCCTGTCTCTACTAAAAACACAAAAATTAGCCAGGCATGGTGGCAAACACCTGTAAATTCTAGCTACTTGGGAGGCTGAGGCAAAAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGGCAGAAAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGAGCTTTACTAAGATTAACCTTCATCCAGACAGCATTTTTTGAATTATGCATCTCAATATATCTGTGAAATCAATTTAGTAGGCCTCCACCAGCATATTTTTAATGGAACAGACCAAACAGAAAATAAGAGAGTGATCACATAAAATAAAAGTAAGTATCATTTGTGAAACTTGTGTTTTAGTTATACCTGTATGGGTGGTGTTGGGGGTAATGACATAAAGATGTTTCTTATTGTGGGTGGGTTAAGGTCAAAAAATTCTGAAAGCCCCTGCATTAAGAGCAAGAGGACTATTTACTTCCAAGGCTACTTAAGAGGCCTTGAAATGTGAGATTTATACTAAATCATCTTTGCATAAAGTTATTTGTCTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGCGCAATGGTGCAATGTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCATATCTGGATAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGACCAGGCTGGTCTTAAACTCCTGACCTTGTGATCTACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCCCGGCTAGTTATTTCTCATGTTGAGAGAATTAAATGGACACAAATTTATGGAGTATCAATAAGGCACAAAACCTACTTGTCTCCAAATAGATAATGAAAATATACTAAGAAACTCTTCAAAAGAGGGGGAAAATACACAATCATGGTCAATTTCTGCTCCTTAACTGAAATGTAAAACTTAAAGTCTATATTCAGAAATATTTAAATGAGTAGACAGTTTCTGCTAATACAGAGGGCATTTTTAACACTGTAAAAGAAACTTCTAAAAAAGTTAAGAAGGGAAGCCTCTAGGGAATGAGACAGAGGAGAAGAGAGGCAAGCAAATATTGTTTTTCAGTAACAGCTTTTATTTATACCTGACTTAATTAAATTACTGAATTGTTCCAATAAAAATAAAAATAAAAAAGTAGTTATTTCTCTATAAAAGTCCACAGAAAAACAAGTAGAAATAAAAAAATTCAAAAAGACAAAGAAAAGATTATACAAAGTAGCTTCAGGCTGGACATGGCGGCTCATGCCTATAATCCCAGCATTTTGAGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGGTTCAAGACCAGCCAGGGCAACATAGCAATACCCCATCTCTACAAAAAACAGAAAAATTAGCCAGGTGTGGTGGCATGTACTTGTAGTCCCAGCTACTCAGGAGGCTGAGATGGAAGAATCGCCTGAGTCCATGCATTCAAGGTTACAGTGAGCTATGACTGTGCCACTGTACTCCAGCCCGGGCAACAGAAGGAGACCCCGTCTCTTAAAAAAACAAACAAACAAAAAAAAAACTTGCAAATCATGTTTTTGGCAAGTCTTCTAGAGTATACAAAGAACTTTCACAACTCAAAAATAAAAACCCAATTTAAAAATGGACAACAAATTTGAATAGACATTTCTCCAAAGAAGTTACAAAAATGATCAATAAGTACATGACATAATGTTCAACATCATTAGTCATTAAAGAAATGCAAGTCAAAATATAAGGAGG
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Task1_train_2431
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Consider this mutation in CACNA1S (calcium voltage-gated channel subunit alpha1 S) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Malignant hyperthermia, susceptibility to, 5
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CACTCTCTGAGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAAC
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CACTCTCTGAGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCTTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAAC
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Task1_train_2432
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Gene CACNA1S (calcium voltage-gated channel subunit alpha1 S) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Hypokalemic periodic paralysis, type 1
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CACTCTCTGAGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAAC
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CACTCTCTGAGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCTTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAAC
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Task1_train_2433
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Given a variant located on Chromosome 1 and affecting CACNA1S (calcium voltage-gated channel subunit alpha1 S), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Abnormality of the musculature
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ACTCTCTGAGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACC
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ACTCTCTGAGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCCCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACC
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Task1_train_2434
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This genomic variant is located on Chromosome 1, within the CACNA1S (calcium voltage-gated channel subunit alpha1 S) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Hypokalemic periodic paralysis, type 1
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AGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTT
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AGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACATGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTT
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Task1_train_2435
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A genetic alteration is present in CACNA1S (calcium voltage-gated channel subunit alpha1 S) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Malignant hyperthermia, susceptibility to, 5
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AGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTT
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AGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACATGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTT
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Task1_train_2436
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With a mutation on Chromosome 1 in gene CACNA1S (calcium voltage-gated channel subunit alpha1 S), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Malignant hyperthermia, susceptibility to, 5
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AGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTT
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AGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACATGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTT
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Task1_train_2437
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Given this variant in gene CACNA1S (calcium voltage-gated channel subunit alpha1 S) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Hypokalemic periodic paralysis, type 1
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AGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTT
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AGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACATGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTT
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Task1_train_2438
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Gene CACNA1S (calcium voltage-gated channel subunit alpha1 S), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Malignant hyperthermia, susceptibility to, 5
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GGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTTG
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GGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACCGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTTG
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Task1_train_2439
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The gene CACNA1S (calcium voltage-gated channel subunit alpha1 S) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Hypokalemic periodic paralysis, type 1
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GGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTTG
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GGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACCGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTTG
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Task1_train_2440
|
The gene CACNA1S (calcium voltage-gated channel subunit alpha1 S) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Hypokalemic periodic paralysis, type 1
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GGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTTG
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GGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACCGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTTG
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Task1_train_2441
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This is a variant in CACNA1S (calcium voltage-gated channel subunit alpha1 S), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Malignant hyperthermia, susceptibility to, 5
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GGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTTG
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GGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACCGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTTG
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Task1_train_2442
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Given this context: Chromosome 1, gene CACNA1S (calcium voltage-gated channel subunit alpha1 S) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Hypokalemic periodic paralysis, type 1
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GGGATTCTGGGGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACCCTCAGCACCCTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGC
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GGGATTCTGGGGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACGCTCAGCACCCTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGC
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Task1_train_2443
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The gene CACNA1S (calcium voltage-gated channel subunit alpha1 S) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Malignant hyperthermia, susceptibility to, 5
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GGGATTCTGGGGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACCCTCAGCACCCTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGC
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GGGATTCTGGGGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACGCTCAGCACCCTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGC
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Task1_train_2444
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This variant impacts the gene CACNA1S (calcium voltage-gated channel subunit alpha1 S) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; not provided
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GGGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACCCTCAGCACCCTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGC
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GGGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACCCTCAGCACGCTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGC
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Task1_train_2445
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With a mutation on Chromosome 1 in gene CACNA1S (calcium voltage-gated channel subunit alpha1 S), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Hypokalemic periodic paralysis, type 1
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GGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACCCTCAGCACCCTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCC
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GGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACCCTCAGCACCTTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCC
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Task1_train_2446
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Gene CACNA1S (calcium voltage-gated channel subunit alpha1 S) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Malignant hyperthermia, susceptibility to, 5
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GGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACCCTCAGCACCCTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCC
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GGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACCCTCAGCACCTTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCC
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Task1_train_2447
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Here is a mutation in CACNA1S (calcium voltage-gated channel subunit alpha1 S) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Centronuclear myopathy
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TATCCATAGGCTGGGGGATGGAGTGGGAAACGCTGCTTCAGAAGAAGAGACCTGGGTCCTAGTCCCAGGTCTGCGTCTAACTTGCTGTGCAGTGCTGGGAAGGTCTGTGCCCTTCCTTAGCGTCAGTTTCCAATTTGTGAAACCGACAAGGGGCAGGAGGGTTGTTGAAATAAAAGGACCCTGTGATCCTCTCCTGGGCTAGGATTTTAAAAATAGTAACTTCACAGAGAAGCTTCTTCCAGCATGGAAAAAAGCAATCAGAATTTCTTGAGCTTCACCCAGTCCCCAGGATGCAGGCAGGGGATAGGGGATGAAGAGACGGACATTCCAAGCACATTCACTGAGTCTCATGACCTCAAGAGGAAGCTGAGTACCCGAAATCCTCAGCTCCCAGGGTGGGAGAATCCCGTGATCAGACGGTGGGGGCACTATTCAAAGCTGGGGTTTCTCTTGGTTCCCTCCCCTGACAGCTACCTCCTCCCTAACCCTCCTGGCCCCTGGCAGAGGCCTTGAGGGAAGCCAAGAGCTACTGGATTCTACTGTCTCCATCATGGCCACCTGTAGGGGTTCTCAAATCCACCAAGTCACATTCCAATTTTTCTGTTCCCCCGAGAAGCTAGAACTCTTATTCCTTGGAATGAGTGTCCTAACGTGACACTTTCTGTCTTGCCCAGCCTGCCACAGACCCCAGAGACACATTTCACGCTTAATCGCAGAGACCATTAATTCTTCGAGTTAGCATATTTGCATCTTTCCCCCGCCTTCTTACTTCCTCCACCTATGCCCAGTTTGTTAATTTCATTGCACATATCTTTTGCTGTAAGCCATTTCAAACTATTTTTAGAAAGAAGCAGGATATAAACACATTCAGTCCCCTTGGTAAGACTCTCTTCCTGCTGTCCAGCCCACACCCCCTCTACCCCTCCTCTCCTTACTTCTTTCCAGCCCCTTCCTTGTCCCTGACCTCAGATTTCCTGTCAGCCACCATCTCACCTGCACACAAGTCACTGCCATCTAAGAGGTGATAACTGTTAGATGAAACAACTCAAAATGAGTTATTCTAAAACACAAATATTCATTGCTGGTAGATATTTGAAGAAATTTCATTATTCTTATTTGTACCAGCTCCATTCTCCCCATACTTCACTTTGCAAAATTCTTTCATGCATTCATTCATTCAATTTATTGAGTGCCTCCTCTGAGCCAAACACTGTGCTGTGTGGAACACAAAAGTCCCCCTGGAGCTTAGAGTCACTGGGGCAAACAGATGCTAATCAGCTGATTCCATAAGTAGACATACAAGTAGCTGATCAGCTGATGGGACAAGTAGATCTAAAATTGCCCCACTGACCCGGTGATCCGAAGGACCCAGGACCCAGAGAGTTCTTGGGCCCCAGGGCTCTGTCAGGTGGCCTGGTAAGATTAATTCAGCCTGGTTCTGCTTGTCCTCTTCTTGGTCCAGATAAATGGGATTTCTGCAGCAGTCACTGGCTATTTGCATTTATGAGATGTTTGTGGTTTATCCACGGTTGTTTCTTATCCATGCTCCCCCTACCCCACCATTGTTTCCTCCTCTTGGACTTTCCCACATTGCCTGCCATGGTTCTATCCATCCCTGTATCCTTCCGGCCCCCAGCCCTACCAGACACTGGATAGTGAGTAATCTGCCTCATCACGACATATATGGGCGTGTCCTCATTTATGATCCATTCTGCATGACTGGCAGGGAAGACTTGTATACCCACGTGTCCCTGTGCTTCTTGAAAACTGAGTCCTTGGCAGTGAGGCACATAGCTGGCACTCAATAAATACTTGCTGAGTTACATGAAAGTAAAATGTATGGGTTTTTCTGTTGTGTGCATTGTTGAGAGAGACAAGCTGGCAGATGGCTTATTTGCACAGAAGGGATGTCTCCGGTGTTCTGATCTCCACATGGAGGGGTACAGGTAGGGACACACAAGAGACTGCCCATGGGGAGAATTCAGGACCGGCACACCCCTACTTCACCCCAGCACCCTGCTCCAGTCCAGTCTCCAGCATCCTCACCTGGGAAGTCGGCTGAGGGGTAGGGATCCTTCACCTCATTGACATTAGATTCAAACTCATCGATTTTCAGCTGTAGGAAGGAACACAATGACTATAACAATGAAAAAGAAGTTGCGGTTTCCCCTCAATGAGCATATACTGGAGAGCCTGTTAGCGTTCAGCTCACTTAATCATCCCTACAGCCTAAGGAACAGGGAATATTATGATCATCCCCATTTTACAAATGAGAGGCCAGGCCCAGCAAGGCCAGACAACTTGCAAAAGCTCCCACGGGGCAAGGCCTGAGCCCGCCCTAGCCTGTCTGACTCTATCTTCACATACCCACTGCTTGGTTCTCCAGAAGGGAGTTGAGCTTCCCCAGGCCAGGACCTCGAGCCTCTCTGGGCCCAGTTCCCTGACTTTTTGAACTCCACTTCCTCAGTTTTCAGGAATGGTGAGCAGAGTCAGATGGGAATGAGCAGGGCAGGGCTAGCAATGGTGGAAGCCGGTCTGGGCCTCTCAGTGGAACAGCGGGTGTCAGGGAGAGGAAATACCTCCTTGGTCTGGAGTGGGAAGCTGCTACGCTGGAGAAGTCTGGTTCCCAGATTGGGAGGTCTGCTGTGCCTCTCAGTGCAGGAGTCCCTGGAGATGGATTCGCTGGCTCTCCCTCCAGTCGTACGCAGGGAGATGCCCTCACCTGGCTGATAACTCTCCTACCTCCCCACCCTACCCCACCTGTACCCTGTGGTATGAAGGGAACCATGGATTGGAAGAGCCCCTAGACTGCCTCTAACATCCCCACCTGAGGTGCTCACCTTGGCAGTGGTGGGGATGCCCTCACCCTTGGGTTTCTGCTCCAGCTTCTTGGCCATCGTTGACTTCTCCTCTTCTGACTTGTCTGGGAGACCCCTGAGTTAGAAAACCCAAAGTGGAAGCCAAACCAGAAAGTTCTCAGGGATCTGCTGAACCTGACAACACCTTCAGGAGGATCCCACACCAAGGGCTCCAGGGGATCTGTAGGAGGAGTGGCATCAGCCCCCAAATGGGAAGGGCAGTGGGCTCAGGCAAGTCCCTTCTCTGTGGTGAGAGGGCCCGACACACAGCATGGGCCCATGGCTACCGGTGGCTCACTGGTCAGCCATGTTTAACGTTGGTTGATAGTGAATGGGTGGAGTGTGGCTTTGTACTGGGTTTATACGAGATTCATAGAGTGGAAGCATGGTTTGCCCAAGATGGCTCCAACTCTTTAGAAATGTCTGAACTCCATTGCTGGTCCCTCTTTTTCCATCTTGCCTCCACAGGAATGGGTGTCCCATTCCTGTAGGCATGGGCATTGGAAGAAGCAGAACTCTGTCTAGAACCTAGGTACTTGAAGCATAATCCTCCAACCAGCAGCATGGGCACCACCGGGGAGCCTGTTCGATGTAGAACTCCAACCCCGCCCAGAGGCATAGCGACTCAGTGACAGGGTTGGGAGGGGAATTCCCAGGATCCCTCCGCAGGGGAGCCCTGCCCAACTGGCCAGGCTCTGAGGCTCTGGCATTCTACATCCTGAGGCCTGTCTGTCCAGAAGGCCAACTTGTCTCTGTTCTTGCCCCCAGGGAAGGATCTCAGCCACCCCCATGTGCAGGTTACAGAAGTTTGCCCACTGAGGTGGGTGTCACCATGTCAGGGACCCTGATCATTGGGTTACAGGGAGGCCCTGTCCAGAGCTGGAAGGCCATGGCCACGACTGAGCACTCCAGGTCCCTTCCTGCTAAGGAAGCACTCACTTGGACATCTTCCTGCGTTTTTTCTCCTCAGCCTTGGCCTTCTGGGCAGAAGTCAGGCTCTCCGCCTCGGCCAGGTTGTCCACGGCAATGGCCAGGAAGACATTGAGCAGGATGTCTGAGCGGGTTTAGCTAAGGAGCCTTTGGTTGTAGGTGGAAGGGAGCCTGCAGGGCAGGAGTTCTGTCTGCCTGCATGTGGGCAGGACCTAACCCCACTCTCCCAGAGCTACCCATGGGAAGGTGTGGATCCAGGGACATAGTGGAAGGCCCTCAGGGAAGCCTGCCTGCTGAGAGTACCCAGG
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TATCCATAGGCTGGGGGATGGAGTGGGAAACGCTGCTTCAGAAGAAGAGACCTGGGTCCTAGTCCCAGGTCTGCGTCTAACTTGCTGTGCAGTGCTGGGAAGGTCTGTGCCCTTCCTTAGCGTCAGTTTCCAATTTGTGAAACCGACAAGGGGCAGGAGGGTTGTTGAAATAAAAGGACCCTGTGATCCTCTCCTGGGCTAGGATTTTAAAAATAGTAACTTCACAGAGAAGCTTCTTCCAGCATGGAAAAAAGCAATCAGAATTTCTTGAGCTTCACCCAGTCCCCAGGATGCAGGCAGGGGATAGGGGATGAAGAGACGGACATTCCAAGCACATTCACTGAGTCTCATGACCTCAAGAGGAAGCTGAGTACCCGAAATCCTCAGCTCCCAGGGTGGGAGAATCCCGTGATCAGACGGTGGGGGCACTATTCAAAGCTGGGGTTTCTCTTGGTTCCCTCCCCTGACAGCTACCTCCTCCCTAACCCTCCTGGCCCCTGGCAGAGGCCTTGAGGGAAGCCAAGAGCTACTGGATTCTACTGTCTCCATCATGGCCACCTGTAGGGGTTCTCAAATCCACCAAGTCACATTCCAATTTTTCTGTTCCCCCGAGAAGCTAGAACTCTTATTCCTTGGAATGAGTGTCCTAACGTGACACTTTCTGTCTTGCCCAGCCTGCCACAGACCCCAGAGACACATTTCACGCTTAATCGCAGAGACCATTAATTCTTCGAGTTAGCATATTTGCATCTTTCCCCCGCCTTCTTACTTCCTCCACCTATGCCCAGTTTGTTAATTTCATTGCACATATCTTTTGCTGTAAGCCATTTCAAACTATTTTTAGAAAGAAGCAGGATATAAACACATTCAGTCCCCTTGGTAAGACTCTCTTCCTGCTGTCCAGCCCACACCCCCTCTACCCCTCCTCTCCTTACTTCTTTCCAGCCCCTTCCTTGTCCCTGACCTCAGATTTCCTGTCAGCCACCATCTCACCTGCACACAAGTCACTGCCATCTAAGAGGTGATAACTGTTAGATGAAACAACTCAAAATGAGTTATTCTAAAACACAAATATTCATTGCTGGTAGATATTTGAAGAAATTTCATTATTCTTATTTGTACCAGCTCCATTCTCCCCATACTTCACTTTGCAAAATTCTTTCATGCATTCATTCATTCAATTTATTGAGTGCCTCCTCTGAGCCAAACACTGTGCTGTGTGGAACACAAAAGTCCCCCTGGAGCTTAGAGTCACTGGGGCAAACAGATGCTAATCAGCTGATTCCATAAGTAGACATACAAGTAGCTGATCAGCTGATGGGACAAGTAGATCTAAAATTGCCCCACTGACCCGGTGATCCGAAGGACCCAGGACCCAGAGAGTTCTTGGGCCCCAGGGCTCTGTCAGGTGGCCTGGTAAGATTAATTCAGCCTGGTTCTGCTTGTCCTCTTCTTGGTCCAGATAAATGGGATTTCTGCAGCAGTCACTGGCTATTTGCATTTATGAGATGTTTGTGGTTTATCCACGGTTGTTTCTTATCCATGCTCCCCCTACCCCACCATTGTTTCCTCCTCTTGGACTTTCCCACATTGCCTGCCATGGTTCTATCCATCCCTGTATCCTTCCGGCCCCCAGCCCTACCAGACACTGGATAGTGAGTAATCTGCCTCATCACGACATATATGGGCGTGTCCTCATTTATGATCCATTCTGCATGACTGGCAGGGAAGACTTGTATACCCACGTGTCCCTGTGCTTCTTGAAAACTGAGTCCTTGGCAGTGAGGCACATAGCTGGCACTCAATAAATACTTGCTGAGTTACATGAAAGTAAAATGTATGGGTTTTTCTGTTGTGTGCATTGTTGAGAGAGACAAGCTGGCAGATGGCTTATTTGCACAGAAGGGATGTCTCCGGTGTTCTGATCTCCACATGGAGGGGTACAGGTAGGGACACACAAGAGACTGCCCATGGGGAGAATTCAGGACCGGCACACCCCTACTTCACCCCAGCACCCTGCTCCAGTCCAGTCTCCAGCATCCTCACCTTGGAAGTCGGCTGAGGGGTAGGGATCCTTCACCTCATTGACATTAGATTCAAACTCATCGATTTTCAGCTGTAGGAAGGAACACAATGACTATAACAATGAAAAAGAAGTTGCGGTTTCCCCTCAATGAGCATATACTGGAGAGCCTGTTAGCGTTCAGCTCACTTAATCATCCCTACAGCCTAAGGAACAGGGAATATTATGATCATCCCCATTTTACAAATGAGAGGCCAGGCCCAGCAAGGCCAGACAACTTGCAAAAGCTCCCACGGGGCAAGGCCTGAGCCCGCCCTAGCCTGTCTGACTCTATCTTCACATACCCACTGCTTGGTTCTCCAGAAGGGAGTTGAGCTTCCCCAGGCCAGGACCTCGAGCCTCTCTGGGCCCAGTTCCCTGACTTTTTGAACTCCACTTCCTCAGTTTTCAGGAATGGTGAGCAGAGTCAGATGGGAATGAGCAGGGCAGGGCTAGCAATGGTGGAAGCCGGTCTGGGCCTCTCAGTGGAACAGCGGGTGTCAGGGAGAGGAAATACCTCCTTGGTCTGGAGTGGGAAGCTGCTACGCTGGAGAAGTCTGGTTCCCAGATTGGGAGGTCTGCTGTGCCTCTCAGTGCAGGAGTCCCTGGAGATGGATTCGCTGGCTCTCCCTCCAGTCGTACGCAGGGAGATGCCCTCACCTGGCTGATAACTCTCCTACCTCCCCACCCTACCCCACCTGTACCCTGTGGTATGAAGGGAACCATGGATTGGAAGAGCCCCTAGACTGCCTCTAACATCCCCACCTGAGGTGCTCACCTTGGCAGTGGTGGGGATGCCCTCACCCTTGGGTTTCTGCTCCAGCTTCTTGGCCATCGTTGACTTCTCCTCTTCTGACTTGTCTGGGAGACCCCTGAGTTAGAAAACCCAAAGTGGAAGCCAAACCAGAAAGTTCTCAGGGATCTGCTGAACCTGACAACACCTTCAGGAGGATCCCACACCAAGGGCTCCAGGGGATCTGTAGGAGGAGTGGCATCAGCCCCCAAATGGGAAGGGCAGTGGGCTCAGGCAAGTCCCTTCTCTGTGGTGAGAGGGCCCGACACACAGCATGGGCCCATGGCTACCGGTGGCTCACTGGTCAGCCATGTTTAACGTTGGTTGATAGTGAATGGGTGGAGTGTGGCTTTGTACTGGGTTTATACGAGATTCATAGAGTGGAAGCATGGTTTGCCCAAGATGGCTCCAACTCTTTAGAAATGTCTGAACTCCATTGCTGGTCCCTCTTTTTCCATCTTGCCTCCACAGGAATGGGTGTCCCATTCCTGTAGGCATGGGCATTGGAAGAAGCAGAACTCTGTCTAGAACCTAGGTACTTGAAGCATAATCCTCCAACCAGCAGCATGGGCACCACCGGGGAGCCTGTTCGATGTAGAACTCCAACCCCGCCCAGAGGCATAGCGACTCAGTGACAGGGTTGGGAGGGGAATTCCCAGGATCCCTCCGCAGGGGAGCCCTGCCCAACTGGCCAGGCTCTGAGGCTCTGGCATTCTACATCCTGAGGCCTGTCTGTCCAGAAGGCCAACTTGTCTCTGTTCTTGCCCCCAGGGAAGGATCTCAGCCACCCCCATGTGCAGGTTACAGAAGTTTGCCCACTGAGGTGGGTGTCACCATGTCAGGGACCCTGATCATTGGGTTACAGGGAGGCCCTGTCCAGAGCTGGAAGGCCATGGCCACGACTGAGCACTCCAGGTCCCTTCCTGCTAAGGAAGCACTCACTTGGACATCTTCCTGCGTTTTTTCTCCTCAGCCTTGGCCTTCTGGGCAGAAGTCAGGCTCTCCGCCTCGGCCAGGTTGTCCACGGCAATGGCCAGGAAGACATTGAGCAGGATGTCTGAGCGGGTTTAGCTAAGGAGCCTTTGGTTGTAGGTGGAAGGGAGCCTGCAGGGCAGGAGTTCTGTCTGCCTGCATGTGGGCAGGACCTAACCCCACTCTCCCAGAGCTACCCATGGGAAGGTGTGGATCCAGGGACATAGTGGAAGGCCCTCAGGGAAGCCTGCCTGCTGAGAGTACCCAGG
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Task1_train_2448
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This sequence variant lies in CACNA1S (calcium voltage-gated channel subunit alpha1 S) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Congenital myopathy 18
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ATCCATAGGCTGGGGGATGGAGTGGGAAACGCTGCTTCAGAAGAAGAGACCTGGGTCCTAGTCCCAGGTCTGCGTCTAACTTGCTGTGCAGTGCTGGGAAGGTCTGTGCCCTTCCTTAGCGTCAGTTTCCAATTTGTGAAACCGACAAGGGGCAGGAGGGTTGTTGAAATAAAAGGACCCTGTGATCCTCTCCTGGGCTAGGATTTTAAAAATAGTAACTTCACAGAGAAGCTTCTTCCAGCATGGAAAAAAGCAATCAGAATTTCTTGAGCTTCACCCAGTCCCCAGGATGCAGGCAGGGGATAGGGGATGAAGAGACGGACATTCCAAGCACATTCACTGAGTCTCATGACCTCAAGAGGAAGCTGAGTACCCGAAATCCTCAGCTCCCAGGGTGGGAGAATCCCGTGATCAGACGGTGGGGGCACTATTCAAAGCTGGGGTTTCTCTTGGTTCCCTCCCCTGACAGCTACCTCCTCCCTAACCCTCCTGGCCCCTGGCAGAGGCCTTGAGGGAAGCCAAGAGCTACTGGATTCTACTGTCTCCATCATGGCCACCTGTAGGGGTTCTCAAATCCACCAAGTCACATTCCAATTTTTCTGTTCCCCCGAGAAGCTAGAACTCTTATTCCTTGGAATGAGTGTCCTAACGTGACACTTTCTGTCTTGCCCAGCCTGCCACAGACCCCAGAGACACATTTCACGCTTAATCGCAGAGACCATTAATTCTTCGAGTTAGCATATTTGCATCTTTCCCCCGCCTTCTTACTTCCTCCACCTATGCCCAGTTTGTTAATTTCATTGCACATATCTTTTGCTGTAAGCCATTTCAAACTATTTTTAGAAAGAAGCAGGATATAAACACATTCAGTCCCCTTGGTAAGACTCTCTTCCTGCTGTCCAGCCCACACCCCCTCTACCCCTCCTCTCCTTACTTCTTTCCAGCCCCTTCCTTGTCCCTGACCTCAGATTTCCTGTCAGCCACCATCTCACCTGCACACAAGTCACTGCCATCTAAGAGGTGATAACTGTTAGATGAAACAACTCAAAATGAGTTATTCTAAAACACAAATATTCATTGCTGGTAGATATTTGAAGAAATTTCATTATTCTTATTTGTACCAGCTCCATTCTCCCCATACTTCACTTTGCAAAATTCTTTCATGCATTCATTCATTCAATTTATTGAGTGCCTCCTCTGAGCCAAACACTGTGCTGTGTGGAACACAAAAGTCCCCCTGGAGCTTAGAGTCACTGGGGCAAACAGATGCTAATCAGCTGATTCCATAAGTAGACATACAAGTAGCTGATCAGCTGATGGGACAAGTAGATCTAAAATTGCCCCACTGACCCGGTGATCCGAAGGACCCAGGACCCAGAGAGTTCTTGGGCCCCAGGGCTCTGTCAGGTGGCCTGGTAAGATTAATTCAGCCTGGTTCTGCTTGTCCTCTTCTTGGTCCAGATAAATGGGATTTCTGCAGCAGTCACTGGCTATTTGCATTTATGAGATGTTTGTGGTTTATCCACGGTTGTTTCTTATCCATGCTCCCCCTACCCCACCATTGTTTCCTCCTCTTGGACTTTCCCACATTGCCTGCCATGGTTCTATCCATCCCTGTATCCTTCCGGCCCCCAGCCCTACCAGACACTGGATAGTGAGTAATCTGCCTCATCACGACATATATGGGCGTGTCCTCATTTATGATCCATTCTGCATGACTGGCAGGGAAGACTTGTATACCCACGTGTCCCTGTGCTTCTTGAAAACTGAGTCCTTGGCAGTGAGGCACATAGCTGGCACTCAATAAATACTTGCTGAGTTACATGAAAGTAAAATGTATGGGTTTTTCTGTTGTGTGCATTGTTGAGAGAGACAAGCTGGCAGATGGCTTATTTGCACAGAAGGGATGTCTCCGGTGTTCTGATCTCCACATGGAGGGGTACAGGTAGGGACACACAAGAGACTGCCCATGGGGAGAATTCAGGACCGGCACACCCCTACTTCACCCCAGCACCCTGCTCCAGTCCAGTCTCCAGCATCCTCACCTGGGAAGTCGGCTGAGGGGTAGGGATCCTTCACCTCATTGACATTAGATTCAAACTCATCGATTTTCAGCTGTAGGAAGGAACACAATGACTATAACAATGAAAAAGAAGTTGCGGTTTCCCCTCAATGAGCATATACTGGAGAGCCTGTTAGCGTTCAGCTCACTTAATCATCCCTACAGCCTAAGGAACAGGGAATATTATGATCATCCCCATTTTACAAATGAGAGGCCAGGCCCAGCAAGGCCAGACAACTTGCAAAAGCTCCCACGGGGCAAGGCCTGAGCCCGCCCTAGCCTGTCTGACTCTATCTTCACATACCCACTGCTTGGTTCTCCAGAAGGGAGTTGAGCTTCCCCAGGCCAGGACCTCGAGCCTCTCTGGGCCCAGTTCCCTGACTTTTTGAACTCCACTTCCTCAGTTTTCAGGAATGGTGAGCAGAGTCAGATGGGAATGAGCAGGGCAGGGCTAGCAATGGTGGAAGCCGGTCTGGGCCTCTCAGTGGAACAGCGGGTGTCAGGGAGAGGAAATACCTCCTTGGTCTGGAGTGGGAAGCTGCTACGCTGGAGAAGTCTGGTTCCCAGATTGGGAGGTCTGCTGTGCCTCTCAGTGCAGGAGTCCCTGGAGATGGATTCGCTGGCTCTCCCTCCAGTCGTACGCAGGGAGATGCCCTCACCTGGCTGATAACTCTCCTACCTCCCCACCCTACCCCACCTGTACCCTGTGGTATGAAGGGAACCATGGATTGGAAGAGCCCCTAGACTGCCTCTAACATCCCCACCTGAGGTGCTCACCTTGGCAGTGGTGGGGATGCCCTCACCCTTGGGTTTCTGCTCCAGCTTCTTGGCCATCGTTGACTTCTCCTCTTCTGACTTGTCTGGGAGACCCCTGAGTTAGAAAACCCAAAGTGGAAGCCAAACCAGAAAGTTCTCAGGGATCTGCTGAACCTGACAACACCTTCAGGAGGATCCCACACCAAGGGCTCCAGGGGATCTGTAGGAGGAGTGGCATCAGCCCCCAAATGGGAAGGGCAGTGGGCTCAGGCAAGTCCCTTCTCTGTGGTGAGAGGGCCCGACACACAGCATGGGCCCATGGCTACCGGTGGCTCACTGGTCAGCCATGTTTAACGTTGGTTGATAGTGAATGGGTGGAGTGTGGCTTTGTACTGGGTTTATACGAGATTCATAGAGTGGAAGCATGGTTTGCCCAAGATGGCTCCAACTCTTTAGAAATGTCTGAACTCCATTGCTGGTCCCTCTTTTTCCATCTTGCCTCCACAGGAATGGGTGTCCCATTCCTGTAGGCATGGGCATTGGAAGAAGCAGAACTCTGTCTAGAACCTAGGTACTTGAAGCATAATCCTCCAACCAGCAGCATGGGCACCACCGGGGAGCCTGTTCGATGTAGAACTCCAACCCCGCCCAGAGGCATAGCGACTCAGTGACAGGGTTGGGAGGGGAATTCCCAGGATCCCTCCGCAGGGGAGCCCTGCCCAACTGGCCAGGCTCTGAGGCTCTGGCATTCTACATCCTGAGGCCTGTCTGTCCAGAAGGCCAACTTGTCTCTGTTCTTGCCCCCAGGGAAGGATCTCAGCCACCCCCATGTGCAGGTTACAGAAGTTTGCCCACTGAGGTGGGTGTCACCATGTCAGGGACCCTGATCATTGGGTTACAGGGAGGCCCTGTCCAGAGCTGGAAGGCCATGGCCACGACTGAGCACTCCAGGTCCCTTCCTGCTAAGGAAGCACTCACTTGGACATCTTCCTGCGTTTTTTCTCCTCAGCCTTGGCCTTCTGGGCAGAAGTCAGGCTCTCCGCCTCGGCCAGGTTGTCCACGGCAATGGCCAGGAAGACATTGAGCAGGATGTCTGAGCGGGTTTAGCTAAGGAGCCTTTGGTTGTAGGTGGAAGGGAGCCTGCAGGGCAGGAGTTCTGTCTGCCTGCATGTGGGCAGGACCTAACCCCACTCTCCCAGAGCTACCCATGGGAAGGTGTGGATCCAGGGACATAGTGGAAGGCCCTCAGGGAAGCCTGCCTGCTGAGAGTACCCAGGA
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ATCCATAGGCTGGGGGATGGAGTGGGAAACGCTGCTTCAGAAGAAGAGACCTGGGTCCTAGTCCCAGGTCTGCGTCTAACTTGCTGTGCAGTGCTGGGAAGGTCTGTGCCCTTCCTTAGCGTCAGTTTCCAATTTGTGAAACCGACAAGGGGCAGGAGGGTTGTTGAAATAAAAGGACCCTGTGATCCTCTCCTGGGCTAGGATTTTAAAAATAGTAACTTCACAGAGAAGCTTCTTCCAGCATGGAAAAAAGCAATCAGAATTTCTTGAGCTTCACCCAGTCCCCAGGATGCAGGCAGGGGATAGGGGATGAAGAGACGGACATTCCAAGCACATTCACTGAGTCTCATGACCTCAAGAGGAAGCTGAGTACCCGAAATCCTCAGCTCCCAGGGTGGGAGAATCCCGTGATCAGACGGTGGGGGCACTATTCAAAGCTGGGGTTTCTCTTGGTTCCCTCCCCTGACAGCTACCTCCTCCCTAACCCTCCTGGCCCCTGGCAGAGGCCTTGAGGGAAGCCAAGAGCTACTGGATTCTACTGTCTCCATCATGGCCACCTGTAGGGGTTCTCAAATCCACCAAGTCACATTCCAATTTTTCTGTTCCCCCGAGAAGCTAGAACTCTTATTCCTTGGAATGAGTGTCCTAACGTGACACTTTCTGTCTTGCCCAGCCTGCCACAGACCCCAGAGACACATTTCACGCTTAATCGCAGAGACCATTAATTCTTCGAGTTAGCATATTTGCATCTTTCCCCCGCCTTCTTACTTCCTCCACCTATGCCCAGTTTGTTAATTTCATTGCACATATCTTTTGCTGTAAGCCATTTCAAACTATTTTTAGAAAGAAGCAGGATATAAACACATTCAGTCCCCTTGGTAAGACTCTCTTCCTGCTGTCCAGCCCACACCCCCTCTACCCCTCCTCTCCTTACTTCTTTCCAGCCCCTTCCTTGTCCCTGACCTCAGATTTCCTGTCAGCCACCATCTCACCTGCACACAAGTCACTGCCATCTAAGAGGTGATAACTGTTAGATGAAACAACTCAAAATGAGTTATTCTAAAACACAAATATTCATTGCTGGTAGATATTTGAAGAAATTTCATTATTCTTATTTGTACCAGCTCCATTCTCCCCATACTTCACTTTGCAAAATTCTTTCATGCATTCATTCATTCAATTTATTGAGTGCCTCCTCTGAGCCAAACACTGTGCTGTGTGGAACACAAAAGTCCCCCTGGAGCTTAGAGTCACTGGGGCAAACAGATGCTAATCAGCTGATTCCATAAGTAGACATACAAGTAGCTGATCAGCTGATGGGACAAGTAGATCTAAAATTGCCCCACTGACCCGGTGATCCGAAGGACCCAGGACCCAGAGAGTTCTTGGGCCCCAGGGCTCTGTCAGGTGGCCTGGTAAGATTAATTCAGCCTGGTTCTGCTTGTCCTCTTCTTGGTCCAGATAAATGGGATTTCTGCAGCAGTCACTGGCTATTTGCATTTATGAGATGTTTGTGGTTTATCCACGGTTGTTTCTTATCCATGCTCCCCCTACCCCACCATTGTTTCCTCCTCTTGGACTTTCCCACATTGCCTGCCATGGTTCTATCCATCCCTGTATCCTTCCGGCCCCCAGCCCTACCAGACACTGGATAGTGAGTAATCTGCCTCATCACGACATATATGGGCGTGTCCTCATTTATGATCCATTCTGCATGACTGGCAGGGAAGACTTGTATACCCACGTGTCCCTGTGCTTCTTGAAAACTGAGTCCTTGGCAGTGAGGCACATAGCTGGCACTCAATAAATACTTGCTGAGTTACATGAAAGTAAAATGTATGGGTTTTTCTGTTGTGTGCATTGTTGAGAGAGACAAGCTGGCAGATGGCTTATTTGCACAGAAGGGATGTCTCCGGTGTTCTGATCTCCACATGGAGGGGTACAGGTAGGGACACACAAGAGACTGCCCATGGGGAGAATTCAGGACCGGCACACCCCTACTTCACCCCAGCACCCTGCTCCAGTCCAGTCTCCAGCATCCTCACCTGAGAAGTCGGCTGAGGGGTAGGGATCCTTCACCTCATTGACATTAGATTCAAACTCATCGATTTTCAGCTGTAGGAAGGAACACAATGACTATAACAATGAAAAAGAAGTTGCGGTTTCCCCTCAATGAGCATATACTGGAGAGCCTGTTAGCGTTCAGCTCACTTAATCATCCCTACAGCCTAAGGAACAGGGAATATTATGATCATCCCCATTTTACAAATGAGAGGCCAGGCCCAGCAAGGCCAGACAACTTGCAAAAGCTCCCACGGGGCAAGGCCTGAGCCCGCCCTAGCCTGTCTGACTCTATCTTCACATACCCACTGCTTGGTTCTCCAGAAGGGAGTTGAGCTTCCCCAGGCCAGGACCTCGAGCCTCTCTGGGCCCAGTTCCCTGACTTTTTGAACTCCACTTCCTCAGTTTTCAGGAATGGTGAGCAGAGTCAGATGGGAATGAGCAGGGCAGGGCTAGCAATGGTGGAAGCCGGTCTGGGCCTCTCAGTGGAACAGCGGGTGTCAGGGAGAGGAAATACCTCCTTGGTCTGGAGTGGGAAGCTGCTACGCTGGAGAAGTCTGGTTCCCAGATTGGGAGGTCTGCTGTGCCTCTCAGTGCAGGAGTCCCTGGAGATGGATTCGCTGGCTCTCCCTCCAGTCGTACGCAGGGAGATGCCCTCACCTGGCTGATAACTCTCCTACCTCCCCACCCTACCCCACCTGTACCCTGTGGTATGAAGGGAACCATGGATTGGAAGAGCCCCTAGACTGCCTCTAACATCCCCACCTGAGGTGCTCACCTTGGCAGTGGTGGGGATGCCCTCACCCTTGGGTTTCTGCTCCAGCTTCTTGGCCATCGTTGACTTCTCCTCTTCTGACTTGTCTGGGAGACCCCTGAGTTAGAAAACCCAAAGTGGAAGCCAAACCAGAAAGTTCTCAGGGATCTGCTGAACCTGACAACACCTTCAGGAGGATCCCACACCAAGGGCTCCAGGGGATCTGTAGGAGGAGTGGCATCAGCCCCCAAATGGGAAGGGCAGTGGGCTCAGGCAAGTCCCTTCTCTGTGGTGAGAGGGCCCGACACACAGCATGGGCCCATGGCTACCGGTGGCTCACTGGTCAGCCATGTTTAACGTTGGTTGATAGTGAATGGGTGGAGTGTGGCTTTGTACTGGGTTTATACGAGATTCATAGAGTGGAAGCATGGTTTGCCCAAGATGGCTCCAACTCTTTAGAAATGTCTGAACTCCATTGCTGGTCCCTCTTTTTCCATCTTGCCTCCACAGGAATGGGTGTCCCATTCCTGTAGGCATGGGCATTGGAAGAAGCAGAACTCTGTCTAGAACCTAGGTACTTGAAGCATAATCCTCCAACCAGCAGCATGGGCACCACCGGGGAGCCTGTTCGATGTAGAACTCCAACCCCGCCCAGAGGCATAGCGACTCAGTGACAGGGTTGGGAGGGGAATTCCCAGGATCCCTCCGCAGGGGAGCCCTGCCCAACTGGCCAGGCTCTGAGGCTCTGGCATTCTACATCCTGAGGCCTGTCTGTCCAGAAGGCCAACTTGTCTCTGTTCTTGCCCCCAGGGAAGGATCTCAGCCACCCCCATGTGCAGGTTACAGAAGTTTGCCCACTGAGGTGGGTGTCACCATGTCAGGGACCCTGATCATTGGGTTACAGGGAGGCCCTGTCCAGAGCTGGAAGGCCATGGCCACGACTGAGCACTCCAGGTCCCTTCCTGCTAAGGAAGCACTCACTTGGACATCTTCCTGCGTTTTTTCTCCTCAGCCTTGGCCTTCTGGGCAGAAGTCAGGCTCTCCGCCTCGGCCAGGTTGTCCACGGCAATGGCCAGGAAGACATTGAGCAGGATGTCTGAGCGGGTTTAGCTAAGGAGCCTTTGGTTGTAGGTGGAAGGGAGCCTGCAGGGCAGGAGTTCTGTCTGCCTGCATGTGGGCAGGACCTAACCCCACTCTCCCAGAGCTACCCATGGGAAGGTGTGGATCCAGGGACATAGTGGAAGGCCCTCAGGGAAGCCTGCCTGCTGAGAGTACCCAGGA
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Task1_train_2449
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A variant was discovered on Chromosome 1, affecting CACNA1S (calcium voltage-gated channel subunit alpha1 S). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Hypokalemic periodic paralysis, type 1
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AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGCGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC
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AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGTGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC
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Task1_train_2450
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A mutation on Chromosome 1 affecting CACNA1S (calcium voltage-gated channel subunit alpha1 S) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Congenital myopathy 18
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AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGCGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC
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AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGTGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC
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Task1_train_2451
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Located on Chromosome 1, this mutation impacts CACNA1S (calcium voltage-gated channel subunit alpha1 S). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Malignant hyperthermia, susceptibility to, 5
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AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGCGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC
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AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGTGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC
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Task1_train_2452
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An alteration has been detected in CACNA1S (calcium voltage-gated channel subunit alpha1 S) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Thyrotoxic periodic paralysis, susceptibility to, 1
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AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGCGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC
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AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGTGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC
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Task1_train_2453
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Here is a variant affecting CACNA1S (calcium voltage-gated channel subunit alpha1 S) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Hypokalemic periodic paralysis, type 1
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AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGCGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC
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AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGTGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC
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Task1_train_2454
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This variant lies on Chromosome 1 and affects the gene CACNA1S (calcium voltage-gated channel subunit alpha1 S). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Malignant hyperthermia, susceptibility to, 5
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AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGCGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC
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AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGTGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC
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Task1_train_2455
|
An alteration has been detected in CACNA1S (calcium voltage-gated channel subunit alpha1 S) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Hypokalemic periodic paralysis, type 1
|
AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGCGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC
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AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGTGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC
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Task1_train_2456
|
Chromosome 1 houses a mutation in gene CACNA1S (calcium voltage-gated channel subunit alpha1 S). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Hypokalemic periodic paralysis, type 1
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GACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGCGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTCC
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GACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGCCGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTCC
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Task1_train_2457
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Assess the clinical impact of this variant on gene CACNA1S (calcium voltage-gated channel subunit alpha1 S), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Malignant hyperthermia, susceptibility to, 5
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AAGGCACAGAGAAGTTAGGTAATTAGGTAAAGCTCACACAGCCACCAAGCAGTAGTGCAGGGATTTAAATGTGGGCATTCTAGCTCCAGAGTCTGTGTGCTTAACCGAAAGCCCCACCGCCTCTTAGTGCTAAGGCTCCACTTAGGCACCCCCGGGGCCAGGAGGCTGGAGTTTCAGGGGCTTCACTGAGGAGTGTCAAAACAGAGGGACGGGAGGGGTGAGAATGGGGGAAGACTTGAGGAGGAGGAAAAAGGCAAATTAAAAATTGAAGGGCTCCTGTGTGCCTCTCCTCTCTTCCTGCTCACCAGGAAGGAAGCGCTCTTGGCCCAACTGAGATGACAGGGAACCCAGGGATGAGCCGAGGGCCTGACTCACAGCCCCCTGCCCTGCTCCACTCCTTCCTCCTCCTCCCTTCTCTCCTCCTCCTCTCCACTCGCCCCCCACCCCTCCTGTTTCTTTTCCCTCCGTTCCTTTTCCTTCCTCCTCCTTCTCCCCTCCTCCTCTTTCTCTTTTCTCCCCTGGCTACCTTTGAATTTCTTACCCACTCAGGACACCCAGCACCAGGTTGAGGATGAAGAAGGATCCCAGCAAAATGAGGGTGACAAAATAGATCCAGGGCCACTCATTCCCGATGGCATCATTGACCTGGTCAGGACAGAAGTGTGATCCTCTGAGTTGAGGGCTTGGTTCCTCTTCCCCAAGTCTGCTCATTAAGACTCCACCCAACCCTGGGGGACAAGGAGAGAAGCCACGCTGGGATATTGAGGGGACATTTTTCCTAACCTGAGGACTAGTCTGGAAGAACTTTTCCAGCCTGAGGACTAGGATCTGGTCTGGAAGGATCTCCCTAGGGAGACCTTGCTGACTGCCTACCTGGCCCGGGCAAGACTGACCTAATTTCCCTCCAACCAAGAGTGTCTCCTATCTGCCTCCCTCACTTGATCTCCCTCATAGACTCTATCTCCAGTTGATTTATTTAAAGCCAAGATTTTTCAAATGAACAACGTCTGTGACCCCGGACAAGTCACCTAACATCTCTGAGCATTATTCCCAACCATCTAATGGCGATAATGACATGGGCTGTCTCTCCTCACAGGCTTGATACAGAGGTGAAATCATACATGTGACAGTCCTTTGACATTTTAAATAATTTGCTCTCCTAATACACACTTACAATAAATATTTGTACTAATCCTTGGTATTTGCAAAGCATTTGACAGTTTTACAATCCCCCCACCCCCACAATAGGCGGCGTCATATTGTGGTTAATTCTGGATTGGAGCCAGGGGGATCAGAGTTCGATTCTTGGCTCTGTTGCTCACTAAGTTCTTAACCATGGGCAAGTTACTTTAATCTCTCTGAGCCTCAGTTTCTTTATCTGTAAAATGGGAGCAATGCCTTCCATCATTGAAGGATGAAATAAGAAATCTAGCTCTTAACAAACACCAAATAAATAATATACTCCAACAAAGAAACTCTTACTGGAGTGTTGACTGTGTGCCGGGCACTGTTGTAATTCTCCCACTAACTCTGATATAGACAGTATTATTATCCTTATTTTATAGGTGAGGAAACTAATATCTAATAATAGTTATATGGGAAAGCAGTCTTGCAGAGGCAAGGAAAAAGACTCAAAGGGCCCTTCGTTCCTCAAAAAGTGTGAAATTCTAAGCCATCAGAATTGAGTCACTCACAGCCAGGTTTTTCCTGGTTTCCATTCTTCACCCGCCCCTTGGATCCTGCACAGACATATTGTATCATGGGGATTTCCCCATAGGATGCTGGGGCACATACCTGGGAACCAGAAAGGGACACACATCCTGTATAGATTCCCCAGGGAGGAGCAAGAGGGAGCTGTGGTCACGCAAGTCAGAGACTGGCCTCCTGTGTGGACTGGCAAGCCCTCCCTCCCCACTCCCTTGCAAGCCTGTGGATGAAGGGAGATGGTTCTGCAGGCGCGGGCCCAGACCCACCCAGTAAAGGACGTCAGTCCATCCCTCCATGGTAATGCACTGGTACACGGTGAGCATGGAGAAGCCGAAGTTGTCGAAGTGGGTGATGCCATGGTTGGGCCCTGGCCAGCCGCCCCGGCACTCACTGCCATTGATGGTGCACCGGCGCCCTGAGCCCGTCCTGGCGCAGGGCGATGGCTCTTCATTCTCCACCGTGGCCACGATATCTGGAGGCAGAAGGCAAAGGGAACATCAGACAACAGTAGTAGGTGGACAACGACAGGAGGAAAGGTGTATAAGAGCAATTTAAGAGAATTGAGCAGTAAGTCTAAAGACACTCTGCTGAAAATGCAAAAGACAGCTTCACATGGAGCAGACGGTGACAGTGAAGAGGAATGCCTTGGGCTGAGGATGGCTACAGGCAGCGGGAATTATGTCTTGGGCCCCTGGGCCTCATGGCAGGGTCGGCTTCTAGGATTAATTGTCCTAAGCAGTGCAACCCATGAAAGAGGAGTAATCTGAGTGTCATTTGTCCCCACAGAACTTTAAAAAAGAAGGCAGCTGCCTGGCTGGAGCAGGGCTGGAGGTGGAGGGCTCACATGTTCTGACTTGAGAGTTCTGTCTGGGAGGTGAAATTGGAGAAGCTCCAAAAGCACTGGGCTGAGCTTTACAAGATACCCAGCTGACGGGGCAGGGGTCTGCACTCAGGGGAAGTTCCCACCAGGCCCGAGCCTGCACTCTCCTTTGTTCCCCTGGATGATGCTTTCTTGTCTCTAAAATCCTGTACTTCTGATGACATCCTGCATCTCCTTTTATCTTAGGATGTTTTACAGTCTCCTTTTGTGTTCAGAGATTAGATTGGCTCATCAGAACTGGAACACCCTGCCTTACCCATATTTATCTATTTACCATGTAGGCTCAATGCTCTGAAGATGGAAAGGAGAGGACATTGATGGGTCTGTAGGGGCCCTGACCCCATGAAGTCAGAAGCCCCGATCCGAGAGGGGCTTTTGAGCACTGCTGCTCAGCATTCCTCAAGATCTCATGAGAACACCAGTGAGACCTCCAAATTTGGGTTGAAGGTGTGATCAAAGGTCACCTCCTATCCATCCTGATAATGCTTATGATAGGATGTAGATTGTGGTGGTGATGGGAGGAGGCTGAAATGGGAGGGGTCTAGGAATATAATCCCTGAAAGCTGGACCAGAGTTTACTCTTGTGAGTTGGGTTTAGGACTGGTGTTGACTGTCCCTTTGTTGTCAGCGGTCATGAGGAGGTGAGTAGAGTCTTCTGAGACACTGAAGGCCTAGAACAGTTATTCTGGTGAGTTCAATGCCAGGGCTTATGGAGGAGGCTAAGTCCCAGTGAGCTGCTGGCAGGGTAGAGCAGCCAGTCTCAGAGTGGGACCCGAGATTCTTTCAGAGTGTCGGCCTGACCAAAATGATTTTCACAATACTGCTGAGACGTTAGTTGCCCATCTGTCTCTCATTCTCTCAACAATGTAGACTGGAATTTTCCAGAGGCTACATGAGTTGTGATTTGGCAGCACACACACACAGAAGTTGATGTGAGAGTCCAGCAGCCTCTATCAAGCCAGGCAGTGAAGAGATTTACAAAAAGTGTAAAATAGCGTCACCACTCTTCTCACCAAATATTACTGGTTTTGGAAAAATCTAGTTATTTTTTATTAGAAATATACTATTTATGTTCTCATGTCATGGGTTTCTTACTGTTCTTTAAAAGTGAATTAATAAATTAATATTGTGACATGTTCCTCGGTTTTCATTTCTCATACCATGAATATCAACAGATCAAAACCTATATAAACAAAAGCTCTCTGAGGTCCTCAGTAATTTATATGAGAGAAAAGGGGTCCTGAGGCCAAAAAGTTTGAGAACTGCTGCTTCAGCTCAAATATATCTGGGCTTCAATGTAGGTTATTTCTGGAAACTCAAAAAATGACTCCATTTGGCTCTTGGGTGTTTTTTCTGAGGTCCCATTCAGACCCTATTCTGGGTGCCTGCTCTGAGGGTCAGCTCAGACTAAAGCTAAAACTATGCGACAGGAAATGTACACATAGAAATTCAAGCTTATCCCATGCCTATGTCTCCATCTACCACAGGTCCAGAGAGCCTGGAACATAC
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AAGGCACAGAGAAGTTAGGTAATTAGGTAAAGCTCACACAGCCACCAAGCAGTAGTGCAGGGATTTAAATGTGGGCATTCTAGCTCCAGAGTCTGTGTGCTTAACCGAAAGCCCCACCGCCTCTTAGTGCTAAGGCTCCACTTAGGCACCCCCGGGGCCAGGAGGCTGGAGTTTCAGGGGCTTCACTGAGGAGTGTCAAAACAGAGGGACGGGAGGGGTGAGAATGGGGGAAGACTTGAGGAGGAGGAAAAAGGCAAATTAAAAATTGAAGGGCTCCTGTGTGCCTCTCCTCTCTTCCTGCTCACCAGGAAGGAAGCGCTCTTGGCCCAACTGAGATGACAGGGAACCCAGGGATGAGCCGAGGGCCTGACTCACAGCCCCCTGCCCTGCTCCACTCCTTCCTCCTCCTCCCTTCTCTCCTCCTCCTCTCCACTCGCCCCCCACCCCTCCTGTTTCTTTTCCCTCCGTTCCTTTTCCTTCCTCCTCCTTCTCCCCTCCTCCTCTTTCTCTTTTCTCCCCTGGCTACCTTTGAATTTCTTACCCACTCAGGACACCCAGCACCAGGTTGAGGATGAAGAAGGATCCCAGCAAAATGAGGGTGACAAAATAGATCCAGGGCCACTCATTCCCGATGGCATCATTGACCTGGTCAGGACAGAAGTGTGATCCTCTGAGTTGAGGGCTTGGTTCCTCTTCCCCAAGTCTGCTCATTAAGACTCCACCCAACCCTGGGGGACAAGGAGAGAAGCCACGCTGGGATATTGAGGGGACATTTTTCCTAACCTGAGGACTAGTCTGGAAGAACTTTTCCAGCCTGAGGACTAGGATCTGGTCTGGAAGGATCTCCCTAGGGAGACCTTGCTGACTGCCTACCTGGCCCGGGCAAGACTGACCTAATTTCCCTCCAACCAAGAGTGTCTCCTATCTGCCTCCCTCACTTGATCTCCCTCATAGACTCTATCTCCAGTTGATTTATTTAAAGCCAAGATTTTTCAAATGAACAACGTCTGTGACCCCGGACAAGTCACCTAACATCTCTGAGCATTATTCCCAACCATCTAATGGCGATAATGACATGGGCTGTCTCTCCTCACAGGCTTGATACAGAGGTGAAATCATACATGTGACAGTCCTTTGACATTTTAAATAATTTGCTCTCCTAATACACACTTACAATAAATATTTGTACTAATCCTTGGTATTTGCAAAGCATTTGACAGTTTTACAATCCCCCCACCCCCACAATAGGCGGCGTCATATTGTGGTTAATTCTGGATTGGAGCCAGGGGGATCAGAGTTCGATTCTTGGCTCTGTTGCTCACTAAGTTCTTAACCATGGGCAAGTTACTTTAATCTCTCTGAGCCTCAGTTTCTTTATCTGTAAAATGGGAGCAATGCCTTCCATCATTGAAGGATGAAATAAGAAATCTAGCTCTTAACAAACACCAAATAAATAATATACTCCAACAAAGAAACTCTTACTGGAGTGTTGACTGTGTGCCGGGCACTGTTGTAATTCTCCCACTAACTCTGATATAGACAGTATTATTATCCTTATTTTATAGGTGAGGAAACTAATATCTAATAATAGTTATATGGGAAAGCAGTCTTGCAGAGGCAAGGAAAAAGACTCAAAGGGCCCTTCGTTCCTCAAAAAGTGTGAAATTCTAAGCCATCAGAATTGAGTCACTCACAGCCAGGTTTTTCCTGGTTTCCATTCTTCACCCGCCCCTTGGATCCTGCACAGACATATTGTATCATGGGGATTTCCCCATAGGATGCTGGGGCACATACCTGGGAACCAGAAAGGGACACACATCCTGTATAGATTCCCCAGGGAGGAGCAAGAGGGAGCTGTGGTCACGCAAGTCAGAGACTGGCCTCCTGTGTGGACTGGCAAGCCCTCCCTCCCCACTCCCTTGCAAGCCTGTGGATGAAGGGAGATGGTTCTGCAGGCGCGGGCCCAGACCCACCCAGTAAAGGACGTCAGTCCATCCCTCCATGGTAATGCACTGGTACACGGTGAGCATGGAGAAGCCGAAGTTGTCTAAGTGGGTGATGCCATGGTTGGGCCCTGGCCAGCCGCCCCGGCACTCACTGCCATTGATGGTGCACCGGCGCCCTGAGCCCGTCCTGGCGCAGGGCGATGGCTCTTCATTCTCCACCGTGGCCACGATATCTGGAGGCAGAAGGCAAAGGGAACATCAGACAACAGTAGTAGGTGGACAACGACAGGAGGAAAGGTGTATAAGAGCAATTTAAGAGAATTGAGCAGTAAGTCTAAAGACACTCTGCTGAAAATGCAAAAGACAGCTTCACATGGAGCAGACGGTGACAGTGAAGAGGAATGCCTTGGGCTGAGGATGGCTACAGGCAGCGGGAATTATGTCTTGGGCCCCTGGGCCTCATGGCAGGGTCGGCTTCTAGGATTAATTGTCCTAAGCAGTGCAACCCATGAAAGAGGAGTAATCTGAGTGTCATTTGTCCCCACAGAACTTTAAAAAAGAAGGCAGCTGCCTGGCTGGAGCAGGGCTGGAGGTGGAGGGCTCACATGTTCTGACTTGAGAGTTCTGTCTGGGAGGTGAAATTGGAGAAGCTCCAAAAGCACTGGGCTGAGCTTTACAAGATACCCAGCTGACGGGGCAGGGGTCTGCACTCAGGGGAAGTTCCCACCAGGCCCGAGCCTGCACTCTCCTTTGTTCCCCTGGATGATGCTTTCTTGTCTCTAAAATCCTGTACTTCTGATGACATCCTGCATCTCCTTTTATCTTAGGATGTTTTACAGTCTCCTTTTGTGTTCAGAGATTAGATTGGCTCATCAGAACTGGAACACCCTGCCTTACCCATATTTATCTATTTACCATGTAGGCTCAATGCTCTGAAGATGGAAAGGAGAGGACATTGATGGGTCTGTAGGGGCCCTGACCCCATGAAGTCAGAAGCCCCGATCCGAGAGGGGCTTTTGAGCACTGCTGCTCAGCATTCCTCAAGATCTCATGAGAACACCAGTGAGACCTCCAAATTTGGGTTGAAGGTGTGATCAAAGGTCACCTCCTATCCATCCTGATAATGCTTATGATAGGATGTAGATTGTGGTGGTGATGGGAGGAGGCTGAAATGGGAGGGGTCTAGGAATATAATCCCTGAAAGCTGGACCAGAGTTTACTCTTGTGAGTTGGGTTTAGGACTGGTGTTGACTGTCCCTTTGTTGTCAGCGGTCATGAGGAGGTGAGTAGAGTCTTCTGAGACACTGAAGGCCTAGAACAGTTATTCTGGTGAGTTCAATGCCAGGGCTTATGGAGGAGGCTAAGTCCCAGTGAGCTGCTGGCAGGGTAGAGCAGCCAGTCTCAGAGTGGGACCCGAGATTCTTTCAGAGTGTCGGCCTGACCAAAATGATTTTCACAATACTGCTGAGACGTTAGTTGCCCATCTGTCTCTCATTCTCTCAACAATGTAGACTGGAATTTTCCAGAGGCTACATGAGTTGTGATTTGGCAGCACACACACACAGAAGTTGATGTGAGAGTCCAGCAGCCTCTATCAAGCCAGGCAGTGAAGAGATTTACAAAAAGTGTAAAATAGCGTCACCACTCTTCTCACCAAATATTACTGGTTTTGGAAAAATCTAGTTATTTTTTATTAGAAATATACTATTTATGTTCTCATGTCATGGGTTTCTTACTGTTCTTTAAAAGTGAATTAATAAATTAATATTGTGACATGTTCCTCGGTTTTCATTTCTCATACCATGAATATCAACAGATCAAAACCTATATAAACAAAAGCTCTCTGAGGTCCTCAGTAATTTATATGAGAGAAAAGGGGTCCTGAGGCCAAAAAGTTTGAGAACTGCTGCTTCAGCTCAAATATATCTGGGCTTCAATGTAGGTTATTTCTGGAAACTCAAAAAATGACTCCATTTGGCTCTTGGGTGTTTTTTCTGAGGTCCCATTCAGACCCTATTCTGGGTGCCTGCTCTGAGGGTCAGCTCAGACTAAAGCTAAAACTATGCGACAGGAAATGTACACATAGAAATTCAAGCTTATCCCATGCCTATGTCTCCATCTACCACAGGTCCAGAGAGCCTGGAACATAC
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Task1_train_2458
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The gene TNNT2 (troponin T2, cardiac type) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; not provided
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GCATTTATGATGGAGCCTTCTTGTCCCCACCAGAAGATGCTTGGATTCTGCTAATAACTATATCTCTTCAAACACACCATGCTGGCTCTTGCTTCTCAAACTTTCTATGTGCCGTTCCCAGCCCCACCCCCAACCTCTTCCCCTTGACTTCCCCCTCCTCACCCTCTGGTACTCGGCCTAGACACTCTTTCCTCCAGAAAGCCTTCCCACCTGCCAGGGCCAGGTGTGGTGCGTGGCTATGCCTCTCCCCAGCATCGCACCCCCCACCCGCCCCTGTCACCCAGGGCTGGGACCTCTGCTTGCTGTCTCCCTGCTGCTGGATGTGAGCTCTGTGAGCTCCATGAGCGATGTGCTGGCTTAAATCACAGCACCCCACACCCAACACAGTGTCTAGCACATAGTTGGTGCTCAGGAGGTATTTGAATGACTGAACGAATGAATGAATAAGAAATGAGGCCGAGACCCCAGGCTAAGCCCCTCCCTGTGGCCCAAGGACCATTTCCTCTTCATCTCTCACTACATGGATCCCAGTGCTTGGCATACAGCACAGGATAACATGTCTGCATTGTCTCCTGGGAGCATGAGAGCCACGCCTGCAGGAAGAGACCCGTCTAACAGAGTGTGGCATTGGATGGCATAGCTGTGACAGCACATGCTCTAGCAAGCAGAAATGGATTTGCTCTGGCTGGGAGACCACAGGAAGCCTTTCCAGACACAGCTCATGAGGCACTTGCTGATGGATGGCAAGTGGGGAGCCAAGGGAAGGAATCAGGAATTGGGGGAAATTCCACGCCTGACAAAGGAATGGAGGGTCAAGAGAATGTGTCGTCTCAGGCTCTCCTCTGGAGAGGAGGATGGTGCCCTCTCATCGTTTCCTTGTCTTTCTGCCAACTGAAATCCATGCCACCAAGCTGTCCTCTTCAGCTCAGGACCCTGTGACTTAAGCCCTCGAGGATGTGCAGATCATGGGAGGGGGAAACTGAGGCACCCAGACTAACCCACACCTCTCAACAACTCAGGCCTGAATAGCTGCCCAATAAAACTGGCCTTCCTTCCTTCCTCAAGAGCTCCCTGTCCCTCAGACACCTGGTTCCTAGGGCCCTGGCTAGGAGGAGAAAGAGAACGGGAACCATCCGAAGAGTCCTGCATTGTTCTCCAGTGAGTGACTCATGCAGGGAACACTCTGTCCCCCTCAACAGCACTTTTCCCATGTGCTGTTTTGGTGACTCCCAGGAGCAATGATCTGAAGCCCTTTCCACTGCTCCTGCCTCCTGGGCTGCACCCTGGGCCCTCCACCCTCTCCCCAGCTAGAGGCAAGCAGGGAGACCAGACAGGGGAAAGCTCCTTAGAGCTTGGCAGACACCGGGGACCTGTGAGAGCAGGGTCTCGCCTCAGTTTCTCTCTCTCTCTGAAGGGGACGTGACAGAAATGCCAGTCAGTGTGTGGTGGCTTTTTATTACTGGTGTGGAGTGGGTGTGGGGGCAGGCAGGAGTGGTGGCTCCCACCTAGGCCAGCTCCCCATTTCCAAACAGGAGCTGCCTGGGGTGCCCAGGAGGGCCCGGGAACTGGGGGAGTGCAGGCCGGAGGCAGGTGCGAGCGAGGAGCAGATCTTTGGTGAAGGAGGCCAGGCTCTATTTCCAGCGCCCGGTGACTTTAGCCTTCCCGCGGGTCTTGGAGCTGCAGGGGAAGCAGGACGCAGTGACATGGAGACACAGGCAGGGTAGTAGGTCACCATGCGGCTGGGGTAGGACTGGGGTGCCAAAGGGGAGAGGAGCAGGCTGGAGCTGCCTCCAGGGGCAGAATAGGACAGCAGCCTGAGGCTGGAGGGAAGCTTCTCCGCCCCACATTTCACCCCCACCAGCAAGCAGAGGCCACAGGGAGAGAAGCACGAGGCCCCGGAGGAGCCAGAGAAGGAAACCTGTGGGCTGAAGCAGAGGAGGAAGGGCTGGGAGCCTGGGGCCCTCCAAGGAGGAATGGGATAGCTGGAAGGTAGGGAAGGAGGGGGCAGGGGGAGGGCTAGGCGAGAATGACCTCAGACACTTACACTTTCTGGTTATCGTTGATCCTGTTTCGGAGAACATTGATCTGCAAGAAAAGTGGGAAGGACAAAGAGCAACGCTGGAGCTGACTGGCTCAGGTCCCAGGTGGCCTGGGGATGGGGAGAAGGGGGCTGAGTGCAGCAGTGCAGGAGGAGAAGGAGGAGCATGGAAGAGTAGGAGGGGTTAGGATAGTTAAGGGTCAGGAGGGGCCCGTGTACCACAGGCAGAAGCCAAGGAGAAGCTTCCAGGATGCCTCATGGGCCTCCCACTGTGGGGTCCCAGGGCCATAATAGGTTCAGGATATGAGAGTCCCATAAGAAGGGCCTCTGAGAGCTGGGCACAAAGCTGGAGGCTGTGTCATGGAGCCCTCCTAGCAGCCCAGCCCCAGACCCCTCTGGGGCACCCCTGCCCAGCTGCCCACCATCCCGGAAGCTGTGCCCTTTGAGCAGTAGCATCCCCATGCACCACCCCTGCAGGGTGCTGCCCCAAAGTTTGGCAAATCTGTGTCCTGTTGGCCGGTGCAGAGTTCAGTGTGGAACCAAAAAAAGAGAAAAAAGTGGAAGGCACAGGACTAGAGAGGCCATAACAATGGCTGACACCTGCTGAGCATTTAGTGGGTGCCAGGCTCTGTCCTGAGCACCTTCCCAGATATGAACCCATAGGGCTGCTATGAGGGCATAGTAAGTTAATACATGGGACATGCTTGGAACAGTGGTTGGAACACTATAGCAATAATAACAATTAGTATTATCTCTGTAACCCTCACAATCACCCTCTGAAGTATATTGTAGTGTTACCTGTGGAAATGGAGGCAAGGAACAGTGGACTAACTCACCCAATGTCACACAGCCAGTGAGGGGCACAGGTAGAAATTCAACCCAGGCATTATGGCTCCAAAGTCCATGCCACTGTCACCAGGCAATACAGCCTCTCTCCGTATTGGGAGGTGGGAGTACCCTGTAGCCACTGCAGCCTGAGCCTGCCCAGCGAGGGGCTTCTTGCCCAGGGAGGAGTGGTTTGGCAGGAGCAGCAAAGGAGACCTTCCAGGGGAAGCTGAATTCTTCCCTTAGGTAGCAAAGAGGCCCTGGGACCGGGGCTCGGGGGTGGTGGGTAAGGAAGGACTGGCGCCCAGGTCTAAGCTCCGGTATGCAGCATCAGTGTCCTCTAAGCCATTTCCTTGCCTGGTGTCTGTTCACCTAAGACCCTCATTAGTGCACATAGGACTCCGAAAGACTGTGAGCTTGAGGCTCAGCCTAATTGTGCCCACACCAGGACCTTGGGTGTATGTGGGGAGAAGCACCTCTCTGTTGGCAGCACTCCCCTTCCACTGGGGGTCCTGGCTTGGTGCATCCTGGTCCTTGTAACCAGCTCAGATCACTGAGCTGCTGCCTCAACGTGTTGGAGACCCCCAGGGTTGGAACACCAGGAAAGTGTCTCTGCTCAGCCCCAGCGAGCTCTCAGACACTTCCAGCAAGCAGTCGTCAATGCGGTGGACATGGAACACTGCTGAAGGCCAGGCAGCAGGGGCAGATGCAGGAGCTGAAGGGGGCTGTTGGGGAATAGGGACAGGGACCCAGGGACCTGCAGCAGTATTACCGGACCCAGTGAACCAGGAGGAGTGTGAGATGGAGATGCTGGGCGGGGACAGCATGGCGGCCCACCTCATATTTCTGCTGCTTGAACTTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGT
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GCATTTATGATGGAGCCTTCTTGTCCCCACCAGAAGATGCTTGGATTCTGCTAATAACTATATCTCTTCAAACACACCATGCTGGCTCTTGCTTCTCAAACTTTCTATGTGCCGTTCCCAGCCCCACCCCCAACCTCTTCCCCTTGACTTCCCCCTCCTCACCCTCTGGTACTCGGCCTAGACACTCTTTCCTCCAGAAAGCCTTCCCACCTGCCAGGGCCAGGTGTGGTGCGTGGCTATGCCTCTCCCCAGCATCGCACCCCCCACCCGCCCCTGTCACCCAGGGCTGGGACCTCTGCTTGCTGTCTCCCTGCTGCTGGATGTGAGCTCTGTGAGCTCCATGAGCGATGTGCTGGCTTAAATCACAGCACCCCACACCCAACACAGTGTCTAGCACATAGTTGGTGCTCAGGAGGTATTTGAATGACTGAACGAATGAATGAATAAGAAATGAGGCCGAGACCCCAGGCTAAGCCCCTCCCTGTGGCCCAAGGACCATTTCCTCTTCATCTCTCACTACATGGATCCCAGTGCTTGGCATACAGCACAGGATAACATGTCTGCATTGTCTCCTGGGAGCATGAGAGCCACGCCTGCAGGAAGAGACCCGTCTAACAGAGTGTGGCATTGGATGGCATAGCTGTGACAGCACATGCTCTAGCAAGCAGAAATGGATTTGCTCTGGCTGGGAGACCACAGGAAGCCTTTCCAGACACAGCTCATGAGGCACTTGCTGATGGATGGCAAGTGGGGAGCCAAGGGAAGGAATCAGGAATTGGGGGAAATTCCACGCCTGACAAAGGAATGGAGGGTCAAGAGAATGTGTCGTCTCAGGCTCTCCTCTGGAGAGGAGGATGGTGCCCTCTCATCGTTTCCTTGTCTTTCTGCCAACTGAAATCCATGCCACCAAGCTGTCCTCTTCAGCTCAGGACCCTGTGACTTAAGCCCTCGAGGATGTGCAGATCATGGGAGGGGGAAACTGAGGCACCCAGACTAACCCACACCTCTCAACAACTCAGGCCTGAATAGCTGCCCAATAAAACTGGCCTTCCTTCCTTCCTCAAGAGCTCCCTGTCCCTCAGACACCTGGTTCCTAGGGCCCTGGCTAGGAGGAGAAAGAGAACGGGAACCATCCGAAGAGTCCTGCATTGTTCTCCAGTGAGTGACTCATGCAGGGAACACTCTGTCCCCCTCAACAGCACTTTTCCCATGTGCTGTTTTGGTGACTCCCAGGAGCAATGATCTGAAGCCCTTTCCACTGCTCCTGCCTCCTGGGCTGCACCCTGGGCCCTCCACCCTCTCCCCAGCTAGAGGCAAGCAGGGAGACCAGACAGGGGAAAGCTCCTTAGAGCTTGGCAGACACCGGGGACCTGTGAGAGCAGGGTCTCGCCTCAGTTTCTCTCTCTCTCTGAAGGGGACGTGACAGAAATGCCAGTCAGTGTGTGGTGGCTTTTTATTACTGGTGTGGAGTGGGTGTGGGGGCAGGCAGGAGTGGTGGCTCCCACCTAGGCCAGCTCCCCATTTCCAAACAGGAGCTGCCTGGGGTGCCCAGGAGGGCCCGGGAACTGGGGGAGTGCAGGCCGGAGGCAGGTGCGAGCGAGGAGCAGATCTTTGGTGAAGGAGGCCAGGCTCTATTTCCAGCGCCCGGTGACTTTAGCCTTCCCGCGGGTCTTGGAGCTGCAGGGGAAGCAGGACGCAGTGACATGGAGACACAGGCAGGGTAGTAGGTCACCATGCGGCTGGGGTAGGACTGGGGTGCCAAAGGGGAGAGGAGCAGGCTGGAGCTGCCTCCAGGGGCAGAATAGGACAGCAGCCTGAGGCTGGAGGGAAGCTTCTCCGCCCCACATTTCACCCCCACCAGCAAGCAGAGGCCACAGGGAGAGAAGCACGAGGCCCCGGAGGAGCCAGAGAAGGAAACCTGTGGGCTGAAGCAGAGGAGGAAGGGCTGGGAGCCTGGGGCCCTCCAAGGAGGAATGGGATAGCTGGAAGGTAGGGAAGGAGGGGGCAGGGGGAGGGCTAGGCGAGAATGACCTCAGACACTTACACTTCCTGGTTATCGTTGATCCTGTTTCGGAGAACATTGATCTGCAAGAAAAGTGGGAAGGACAAAGAGCAACGCTGGAGCTGACTGGCTCAGGTCCCAGGTGGCCTGGGGATGGGGAGAAGGGGGCTGAGTGCAGCAGTGCAGGAGGAGAAGGAGGAGCATGGAAGAGTAGGAGGGGTTAGGATAGTTAAGGGTCAGGAGGGGCCCGTGTACCACAGGCAGAAGCCAAGGAGAAGCTTCCAGGATGCCTCATGGGCCTCCCACTGTGGGGTCCCAGGGCCATAATAGGTTCAGGATATGAGAGTCCCATAAGAAGGGCCTCTGAGAGCTGGGCACAAAGCTGGAGGCTGTGTCATGGAGCCCTCCTAGCAGCCCAGCCCCAGACCCCTCTGGGGCACCCCTGCCCAGCTGCCCACCATCCCGGAAGCTGTGCCCTTTGAGCAGTAGCATCCCCATGCACCACCCCTGCAGGGTGCTGCCCCAAAGTTTGGCAAATCTGTGTCCTGTTGGCCGGTGCAGAGTTCAGTGTGGAACCAAAAAAAGAGAAAAAAGTGGAAGGCACAGGACTAGAGAGGCCATAACAATGGCTGACACCTGCTGAGCATTTAGTGGGTGCCAGGCTCTGTCCTGAGCACCTTCCCAGATATGAACCCATAGGGCTGCTATGAGGGCATAGTAAGTTAATACATGGGACATGCTTGGAACAGTGGTTGGAACACTATAGCAATAATAACAATTAGTATTATCTCTGTAACCCTCACAATCACCCTCTGAAGTATATTGTAGTGTTACCTGTGGAAATGGAGGCAAGGAACAGTGGACTAACTCACCCAATGTCACACAGCCAGTGAGGGGCACAGGTAGAAATTCAACCCAGGCATTATGGCTCCAAAGTCCATGCCACTGTCACCAGGCAATACAGCCTCTCTCCGTATTGGGAGGTGGGAGTACCCTGTAGCCACTGCAGCCTGAGCCTGCCCAGCGAGGGGCTTCTTGCCCAGGGAGGAGTGGTTTGGCAGGAGCAGCAAAGGAGACCTTCCAGGGGAAGCTGAATTCTTCCCTTAGGTAGCAAAGAGGCCCTGGGACCGGGGCTCGGGGGTGGTGGGTAAGGAAGGACTGGCGCCCAGGTCTAAGCTCCGGTATGCAGCATCAGTGTCCTCTAAGCCATTTCCTTGCCTGGTGTCTGTTCACCTAAGACCCTCATTAGTGCACATAGGACTCCGAAAGACTGTGAGCTTGAGGCTCAGCCTAATTGTGCCCACACCAGGACCTTGGGTGTATGTGGGGAGAAGCACCTCTCTGTTGGCAGCACTCCCCTTCCACTGGGGGTCCTGGCTTGGTGCATCCTGGTCCTTGTAACCAGCTCAGATCACTGAGCTGCTGCCTCAACGTGTTGGAGACCCCCAGGGTTGGAACACCAGGAAAGTGTCTCTGCTCAGCCCCAGCGAGCTCTCAGACACTTCCAGCAAGCAGTCGTCAATGCGGTGGACATGGAACACTGCTGAAGGCCAGGCAGCAGGGGCAGATGCAGGAGCTGAAGGGGGCTGTTGGGGAATAGGGACAGGGACCCAGGGACCTGCAGCAGTATTACCGGACCCAGTGAACCAGGAGGAGTGTGAGATGGAGATGCTGGGCGGGGACAGCATGGCGGCCCACCTCATATTTCTGCTGCTTGAACTTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGT
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Task1_train_2459
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Here is a variant affecting TNNT2 (troponin T2, cardiac type) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Dilated cardiomyopathy 1D
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GCCTCTGAGAGCTGGGCACAAAGCTGGAGGCTGTGTCATGGAGCCCTCCTAGCAGCCCAGCCCCAGACCCCTCTGGGGCACCCCTGCCCAGCTGCCCACCATCCCGGAAGCTGTGCCCTTTGAGCAGTAGCATCCCCATGCACCACCCCTGCAGGGTGCTGCCCCAAAGTTTGGCAAATCTGTGTCCTGTTGGCCGGTGCAGAGTTCAGTGTGGAACCAAAAAAAGAGAAAAAAGTGGAAGGCACAGGACTAGAGAGGCCATAACAATGGCTGACACCTGCTGAGCATTTAGTGGGTGCCAGGCTCTGTCCTGAGCACCTTCCCAGATATGAACCCATAGGGCTGCTATGAGGGCATAGTAAGTTAATACATGGGACATGCTTGGAACAGTGGTTGGAACACTATAGCAATAATAACAATTAGTATTATCTCTGTAACCCTCACAATCACCCTCTGAAGTATATTGTAGTGTTACCTGTGGAAATGGAGGCAAGGAACAGTGGACTAACTCACCCAATGTCACACAGCCAGTGAGGGGCACAGGTAGAAATTCAACCCAGGCATTATGGCTCCAAAGTCCATGCCACTGTCACCAGGCAATACAGCCTCTCTCCGTATTGGGAGGTGGGAGTACCCTGTAGCCACTGCAGCCTGAGCCTGCCCAGCGAGGGGCTTCTTGCCCAGGGAGGAGTGGTTTGGCAGGAGCAGCAAAGGAGACCTTCCAGGGGAAGCTGAATTCTTCCCTTAGGTAGCAAAGAGGCCCTGGGACCGGGGCTCGGGGGTGGTGGGTAAGGAAGGACTGGCGCCCAGGTCTAAGCTCCGGTATGCAGCATCAGTGTCCTCTAAGCCATTTCCTTGCCTGGTGTCTGTTCACCTAAGACCCTCATTAGTGCACATAGGACTCCGAAAGACTGTGAGCTTGAGGCTCAGCCTAATTGTGCCCACACCAGGACCTTGGGTGTATGTGGGGAGAAGCACCTCTCTGTTGGCAGCACTCCCCTTCCACTGGGGGTCCTGGCTTGGTGCATCCTGGTCCTTGTAACCAGCTCAGATCACTGAGCTGCTGCCTCAACGTGTTGGAGACCCCCAGGGTTGGAACACCAGGAAAGTGTCTCTGCTCAGCCCCAGCGAGCTCTCAGACACTTCCAGCAAGCAGTCGTCAATGCGGTGGACATGGAACACTGCTGAAGGCCAGGCAGCAGGGGCAGATGCAGGAGCTGAAGGGGGCTGTTGGGGAATAGGGACAGGGACCCAGGGACCTGCAGCAGTATTACCGGACCCAGTGAACCAGGAGGAGTGTGAGATGGAGATGCTGGGCGGGGACAGCATGGCGGCCCACCTCATATTTCTGCTGCTTGAACTTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGT
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GCCTCTGAGAGCTGGGCACAAAGCTGGAGGCTGTGTCATGGAGCCCTCCTAGCAGCCCAGCCCCAGACCCCTCTGGGGCACCCCTGCCCAGCTGCCCACCATCCCGGAAGCTGTGCCCTTTGAGCAGTAGCATCCCCATGCACCACCCCTGCAGGGTGCTGCCCCAAAGTTTGGCAAATCTGTGTCCTGTTGGCCGGTGCAGAGTTCAGTGTGGAACCAAAAAAAGAGAAAAAAGTGGAAGGCACAGGACTAGAGAGGCCATAACAATGGCTGACACCTGCTGAGCATTTAGTGGGTGCCAGGCTCTGTCCTGAGCACCTTCCCAGATATGAACCCATAGGGCTGCTATGAGGGCATAGTAAGTTAATACATGGGACATGCTTGGAACAGTGGTTGGAACACTATAGCAATAATAACAATTAGTATTATCTCTGTAACCCTCACAATCACCCTCTGAAGTATATTGTAGTGTTACCTGTGGAAATGGAGGCAAGGAACAGTGGACTAACTCACCCAATGTCACACAGCCAGTGAGGGGCACAGGTAGAAATTCAACCCAGGCATTATGGCTCCAAAGTCCATGCCACTGTCACCAGGCAATACAGCCTCTCTCCGTATTGGGAGGTGGGAGTACCCTGTAGCCACTGCAGCCTGAGCCTGCCCAGCGAGGGGCTTCTTGCCCAGGGAGGAGTGGTTTGGCAGGAGCAGCAAAGGAGACCTTCCAGGGGAAGCTGAATTCTTCCCTTAGGTAGCAAAGAGGCCCTGGGACCGGGGCTCGGGGGTGGTGGGTAAGGAAGGACTGGCGCCCAGGTCTAAGCTCCGGTATGCAGCATCAGTGTCCTCTAAGCCATTTCCTTGCCTGGTGTCTGTTCACCTAAGACCCTCATTAGTGCACATAGGACTCCGAAAGACTGTGAGCTTGAGGCTCAGCCTAATTGTGCCCACACCAGGACCTTGGGTGTATGTGGGGAGAAGCACCTCTCTGTTGGCAGCACTCCCCTTCCACTGGGGGTCCTGGCTTGGTGCATCCTGGTCCTTGTAACCAGCTCAGATCACTGAGCTGCTGCCTCAACGTGTTGGAGACCCCCAGGGTTGGAACACCAGGAAAGTGTCTCTGCTCAGCCCCAGCGAGCTCTCAGACACTTCCAGCAAGCAGTCGTCAATGCGGTGGACATGGAACACTGCTGAAGGCCAGGCAGCAGGGGCAGATGCAGGAGCTGAAGGGGGCTGTTGGGGAATAGGGACAGGGACCCAGGGACCTGCAGCAGTATTACCGGACCCAGTGAACCAGGAGGAGTGTGAGATGGAGATGCTGGGCGGGGACAGCATGGCGGCCCACCTCATATTTCTGCTGCTTGAACTTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCAGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGT
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Task1_train_2460
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Located on Chromosome 1, this mutation impacts TNNT2 (troponin T2, cardiac type). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Dilated cardiomyopathy 1D
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CTTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGC
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CTTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCAGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGC
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Task1_train_2461
|
This alteration in TNNT2 (troponin T2, cardiac type) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Dilated cardiomyopathy 1D
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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA
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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCAGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA
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Task1_train_2462
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This gene mutation involves TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Cardiomyopathy, familial restrictive, 3
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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA
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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCAGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA
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Task1_train_2463
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Consider this mutation in TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Hypertrophic cardiomyopathy 2
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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA
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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCAGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA
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Task1_train_2464
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A mutation in TNNT2 (troponin T2, cardiac type), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Cardiovascular phenotype
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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA
|
TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCAGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA
|
Task1_train_2465
|
Given this context: Chromosome 1, gene TNNT2 (troponin T2, cardiac type) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Cardiomyopathy, familial restrictive, 3
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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA
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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCAGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA
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Task1_train_2466
|
This variant impacts the gene TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Hypertrophic cardiomyopathy 2
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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA
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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCAGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA
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Task1_train_2467
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Chromosome 1 houses a mutation in gene TNNT2 (troponin T2, cardiac type). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Dilated cardiomyopathy 1D
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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA
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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCAGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA
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Task1_train_2468
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This genomic variant is located on Chromosome 1, within the TNNT2 (troponin T2, cardiac type) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Primary dilated cardiomyopathy
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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA
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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCAGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA
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Task1_train_2469
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A genomic change on Chromosome 1 affects TNNT2 (troponin T2, cardiac type). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Dilated cardiomyopathy 1D
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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Task1_train_2470
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A genetic alteration is present in TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Cardiomyopathy, familial restrictive, 3
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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Task1_train_2471
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The gene TNNT2 (troponin T2, cardiac type) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Hypertrophic cardiomyopathy
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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Task1_train_2472
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A variant on Chromosome 1 in gene TNNT2 (troponin T2, cardiac type) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Primary dilated cardiomyopathy
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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Task1_train_2473
|
The gene TNNT2 (troponin T2, cardiac type) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Dilated cardiomyopathy 1D
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
|
Task1_train_2474
|
The gene TNNT2 (troponin T2, cardiac type) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Cardiomyopathy, familial restrictive, 3
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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Task1_train_2475
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A mutation found in TNNT2 (troponin T2, cardiac type) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Hypertrophic cardiomyopathy 2
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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Task1_train_2476
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Located on Chromosome 1, this mutation impacts TNNT2 (troponin T2, cardiac type). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Hypertrophic cardiomyopathy 2
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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Task1_train_2477
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Assess the clinical impact of this variant on gene TNNT2 (troponin T2, cardiac type), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Cardiomyopathy
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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Task1_train_2478
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A mutation in TNNT2 (troponin T2, cardiac type), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Familial isolated dilated cardiomyopathy
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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Task1_train_2479
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A mutation on Chromosome 1 affecting TNNT2 (troponin T2, cardiac type) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Cardiovascular phenotype
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC
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Task1_train_2480
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Here’s a variant in TNNT2 (troponin T2, cardiac type) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Dilated cardiomyopathy 1D
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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC
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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCTGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC
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Task1_train_2481
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A mutation on Chromosome 1 affecting TNNT2 (troponin T2, cardiac type) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Hypertrophic cardiomyopathy 2
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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC
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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCTGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC
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Task1_train_2482
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This variant affects gene TNNT2 (troponin T2, cardiac type) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Cardiomyopathy, familial restrictive, 3
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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC
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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCTGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC
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Task1_train_2483
|
Given this context: Chromosome 1, gene TNNT2 (troponin T2, cardiac type) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Primary dilated cardiomyopathy
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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC
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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCTGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC
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Task1_train_2484
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This alteration occurs within gene TNNT2 (troponin T2, cardiac type) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Hypertrophic cardiomyopathy 2
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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC
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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCTGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC
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Task1_train_2485
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This mutation occurs in TNNT2 (troponin T2, cardiac type) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Dilated cardiomyopathy 1D
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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC
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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCTGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC
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Task1_train_2486
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Gene TNNT2 (troponin T2, cardiac type) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Cardiomyopathy, familial restrictive, 3
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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC
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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCTGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC
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Task1_train_2487
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A mutation in TNNT2 (troponin T2, cardiac type), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Hypertrophic cardiomyopathy 2
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CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA
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CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAATGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA
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Task1_train_2488
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Gene TNNT2 (troponin T2, cardiac type), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Hypertrophic cardiomyopathy
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CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA
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CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAATGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA
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Task1_train_2489
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The gene TNNT2 (troponin T2, cardiac type), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Cardiomyopathy
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CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA
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CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAATGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA
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Task1_train_2490
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A genetic alteration is present in TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Dilated cardiomyopathy 1D
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CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA
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CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAATGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA
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Task1_train_2491
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A change on Chromosome 1 affects gene TNNT2 (troponin T2, cardiac type). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Cardiomyopathy, familial restrictive, 3
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CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA
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CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAATGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA
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Task1_train_2492
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A variant affecting Chromosome 1, within the gene TNNT2 (troponin T2, cardiac type), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Hypertrophic cardiomyopathy 2
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GGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCC
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GGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCGTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCC
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Task1_train_2493
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Here is a variant affecting TNNT2 (troponin T2, cardiac type) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Dilated cardiomyopathy 1D
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GGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCC
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GGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCGTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCC
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Task1_train_2494
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This mutation is located in gene TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Cardiomyopathy, familial restrictive, 3
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GGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCC
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GGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCGTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCC
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Task1_train_2495
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An alteration has been detected in TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Hypertrophic cardiomyopathy
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TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA
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TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGTGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA
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Task1_train_2496
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A variant has been detected on Chromosome 1 in TNNT2 (troponin T2, cardiac type). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Hypertrophic cardiomyopathy 2
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TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA
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TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGTGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA
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Task1_train_2497
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This variant affects gene TNNT2 (troponin T2, cardiac type) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Cardiomyopathy, familial restrictive, 3
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TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA
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TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGTGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA
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Task1_train_2498
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The variant affects gene TNNT2 (troponin T2, cardiac type), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Cardiovascular phenotype
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TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA
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TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGTGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA
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Task1_train_2499
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The gene TNNT2 (troponin T2, cardiac type), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Dilated cardiomyopathy 1D
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TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA
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TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGTGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA
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Subsets and Splits
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